Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
2 | g.43875292G>A | CA346670493 | ABCG8 | c.1635G>A (p.Met545Ile) c.1632G>A (p.Met544Ile) c.1647G>A (p.Met549Ile) c.1644G>A (p.Met548Ile) c.1419G>A (p.Met473Ile) n.2137G>A n.2151G>A | dbSNP gnomAD v4 |
2 | g.43875292G>C | CA346670495 | ABCG8 | c.1635G>C (p.Met545Ile) c.1632G>C (p.Met544Ile) c.1647G>C (p.Met549Ile) c.1644G>C (p.Met548Ile) c.1419G>C (p.Met473Ile) n.2137G>C n.2151G>C | |
2 | g.43875292G= | CA2493963665 | ABCG8 | c.1635G= (p.Met545=) c.1632G= (p.Met544=) c.1647G= (p.Met549=) c.1644G= (p.Met548=) c.1419G= (p.Met473=) n.2137G= n.2151G= | |
2 | g.43875292G>T | CA346670494 | ABCG8 | c.1635G>T (p.Met545Ile) c.1632G>T (p.Met544Ile) c.1647G>T (p.Met549Ile) c.1644G>T (p.Met548Ile) c.1419G>T (p.Met473Ile) n.2137G>T n.2151G>T | |
2 | g.43875293G>A | CA46471176 | ABCG8 | c.1636G>A (p.Ala546Thr) c.1633G>A (p.Ala545Thr) c.1648G>A (p.Ala550Thr) c.1645G>A (p.Ala549Thr) c.1420G>A (p.Ala474Thr) n.2138G>A n.2152G>A | dbSNP gnomAD v4 |
2 | g.43875293G>C | CA346670496 | ABCG8 | c.1636G>C (p.Ala546Pro) c.1633G>C (p.Ala545Pro) c.1648G>C (p.Ala550Pro) c.1645G>C (p.Ala549Pro) c.1420G>C (p.Ala474Pro) n.2138G>C n.2152G>C | |
2 | g.43875293G= | CA2493963666 | ABCG8 | c.1636G= (p.Ala546=) c.1633G= (p.Ala545=) c.1648G= (p.Ala550=) c.1645G= (p.Ala549=) c.1420G= (p.Ala474=) n.2138G= n.2152G= | |
2 | g.43875293G>T | CA346670497 | ABCG8 | c.1636G>T (p.Ala546Ser) c.1633G>T (p.Ala545Ser) c.1648G>T (p.Ala550Ser) c.1645G>T (p.Ala549Ser) c.1420G>T (p.Ala474Ser) n.2138G>T n.2152G>T | COSMIC |
2 | g.43875294C>A | CA346670498 | ABCG8 | c.1637C>A (p.Ala546Asp) c.1634C>A (p.Ala545Asp) c.1649C>A (p.Ala550Asp) c.1646C>A (p.Ala549Asp) c.1421C>A (p.Ala474Asp) n.2139C>A n.2153C>A | |
2 | g.43875294C= | CA2493963667 | ABCG8 | c.1637C= (p.Ala546=) c.1634C= (p.Ala545=) c.1649C= (p.Ala550=) c.1646C= (p.Ala549=) c.1421C= (p.Ala474=) n.2139C= n.2153C= | |
2 | g.43875294C>G | CA346670499 | ABCG8 | c.1637C>G (p.Ala546Gly) c.1634C>G (p.Ala545Gly) c.1649C>G (p.Ala550Gly) c.1646C>G (p.Ala549Gly) c.1421C>G (p.Ala474Gly) n.2139C>G n.2153C>G | |
2 | g.43875294C>T | CA46471181 | ABCG8 | c.1637C>T (p.Ala546Val) c.1634C>T (p.Ala545Val) c.1649C>T (p.Ala550Val) c.1646C>T (p.Ala549Val) c.1421C>T (p.Ala474Val) n.2139C>T n.2153C>T | ClinVar dbSNP gnomAD v4 |
2 | g.43875295C>A | CA426116404 | ABCG8 | c.1638C>A (p.Ala546=) c.1635C>A (p.Ala545=) c.1650C>A (p.Ala550=) c.1647C>A (p.Ala549=) c.1422C>A (p.Ala474=) n.2140C>A n.2154C>A | gnomAD v4 |
2 | g.43875295C= | CA2493963668 | ABCG8 | c.1638C= (p.Ala546=) c.1635C= (p.Ala545=) c.1650C= (p.Ala550=) c.1647C= (p.Ala549=) c.1422C= (p.Ala474=) n.2140C= n.2154C= | |
2 | g.43875295C>G | CA426116405 | ABCG8 | c.1638C>G (p.Ala546=) c.1635C>G (p.Ala545=) c.1650C>G (p.Ala550=) c.1647C>G (p.Ala549=) c.1422C>G (p.Ala474=) n.2140C>G n.2154C>G | COSMIC |
2 | g.43875295C>T | CA1637568 | ABCG8 | c.1638C>T (p.Ala546=) c.1635C>T (p.Ala545=) c.1650C>T (p.Ala550=) c.1647C>T (p.Ala549=) c.1422C>T (p.Ala474=) n.2140C>T n.2154C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875296C>A | CA346670500 | ABCG8 | c.1639C>A (p.Leu547Met) c.1636C>A (p.Leu546Met) c.1651C>A (p.Leu551Met) c.1648C>A (p.Leu550Met) c.1423C>A (p.Leu475Met) n.2141C>A n.2155C>A | |
2 | g.43875296C>G | CA346670501 | ABCG8 | c.1639C>G (p.Leu547Val) c.1636C>G (p.Leu546Val) c.1651C>G (p.Leu551Val) c.1648C>G (p.Leu550Val) c.1423C>G (p.Leu475Val) n.2141C>G n.2155C>G | |
2 | g.43875296C>T | CA426116406 | ABCG8 | c.1639C>T (p.Leu547=) c.1636C>T (p.Leu546=) c.1651C>T (p.Leu551=) c.1648C>T (p.Leu550=) c.1423C>T (p.Leu475=) n.2141C>T n.2155C>T | |
2 | g.43875297T>A | CA346670502 | ABCG8 | c.1640T>A (p.Leu547Gln) c.1637T>A (p.Leu546Gln) c.1652T>A (p.Leu551Gln) c.1649T>A (p.Leu550Gln) c.1424T>A (p.Leu475Gln) n.2142T>A n.2156T>A | |
2 | g.43875297T>C | CA346670503 | ABCG8 | c.1640T>C (p.Leu547Pro) c.1637T>C (p.Leu546Pro) c.1652T>C (p.Leu551Pro) c.1649T>C (p.Leu550Pro) c.1424T>C (p.Leu475Pro) n.2142T>C n.2156T>C | gnomAD v4 |
2 | g.43875297T>G | CA346670504 | ABCG8 | c.1640T>G (p.Leu547Arg) c.1637T>G (p.Leu546Arg) c.1652T>G (p.Leu551Arg) c.1649T>G (p.Leu550Arg) c.1424T>G (p.Leu475Arg) n.2142T>G n.2156T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875297T= | CA2493963669 | ABCG8 | c.1640T= (p.Leu547=) c.1637T= (p.Leu546=) c.1652T= (p.Leu551=) c.1649T= (p.Leu550=) c.1424T= (p.Leu475=) n.2142T= n.2156T= | |
2 | g.43875298G>A | CA426116407 | ABCG8 | c.1641G>A (p.Leu547=) c.1638G>A (p.Leu546=) c.1653G>A (p.Leu551=) c.1650G>A (p.Leu550=) c.1425G>A (p.Leu475=) n.2143G>A n.2157G>A | |
2 | g.43875298G>C | CA426116408 | ABCG8 | c.1641G>C (p.Leu547=) c.1638G>C (p.Leu546=) c.1653G>C (p.Leu551=) c.1650G>C (p.Leu550=) c.1425G>C (p.Leu475=) n.2143G>C n.2157G>C | |
2 | g.43875298G>T | CA426116409 | ABCG8 | c.1641G>T (p.Leu547=) c.1638G>T (p.Leu546=) c.1653G>T (p.Leu551=) c.1650G>T (p.Leu550=) c.1425G>T (p.Leu475=) n.2143G>T n.2157G>T | |
2 | g.43875299G>A | CA1637570 | ABCG8 | c.1642G>A (p.Ala548Thr) c.1639G>A (p.Ala547Thr) c.1654G>A (p.Ala552Thr) c.1651G>A (p.Ala551Thr) c.1426G>A (p.Ala476Thr) n.2144G>A n.2158G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875299G>C | CA346670505 | ABCG8 | c.1642G>C (p.Ala548Pro) c.1639G>C (p.Ala547Pro) c.1654G>C (p.Ala552Pro) c.1651G>C (p.Ala551Pro) c.1426G>C (p.Ala476Pro) n.2144G>C n.2158G>C | |
2 | g.43875299G= | CA2493963670 | ABCG8 | c.1642G= (p.Ala548=) c.1639G= (p.Ala547=) c.1654G= (p.Ala552=) c.1651G= (p.Ala551=) c.1426G= (p.Ala476=) n.2144G= n.2158G= | |
2 | g.43875299G>T | CA1637569 | ABCG8 | c.1642G>T (p.Ala548Ser) c.1639G>T (p.Ala547Ser) c.1654G>T (p.Ala552Ser) c.1651G>T (p.Ala551Ser) c.1426G>T (p.Ala476Ser) n.2144G>T n.2158G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875300C>A | CA1637571 | ABCG8 | c.1643C>A (p.Ala548Asp) c.1640C>A (p.Ala547Asp) c.1655C>A (p.Ala552Asp) c.1652C>A (p.Ala551Asp) c.1427C>A (p.Ala476Asp) n.2145C>A n.2159C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875300C= | CA2493963671 | ABCG8 | c.1643C= (p.Ala548=) c.1640C= (p.Ala547=) c.1655C= (p.Ala552=) c.1652C= (p.Ala551=) c.1427C= (p.Ala476=) n.2145C= n.2159C= | |
2 | g.43875300C>G | CA346670506 | ABCG8 | c.1643C>G (p.Ala548Gly) c.1640C>G (p.Ala547Gly) c.1655C>G (p.Ala552Gly) c.1652C>G (p.Ala551Gly) c.1427C>G (p.Ala476Gly) n.2145C>G n.2159C>G | |
2 | g.43875300C>T | CA1637572 | ABCG8 | c.1643C>T (p.Ala548Val) c.1640C>T (p.Ala547Val) c.1655C>T (p.Ala552Val) c.1652C>T (p.Ala551Val) c.1427C>T (p.Ala476Val) n.2145C>T n.2159C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875301C>A | CA426116410 | ABCG8 | c.1644C>A (p.Ala548=) c.1641C>A (p.Ala547=) c.1656C>A (p.Ala552=) c.1653C>A (p.Ala551=) c.1428C>A (p.Ala476=) n.2146C>A n.2160C>A | |
2 | g.43875301C= | CA2493963672 | ABCG8 | c.1644C= (p.Ala548=) c.1641C= (p.Ala547=) c.1656C= (p.Ala552=) c.1653C= (p.Ala551=) c.1428C= (p.Ala476=) n.2146C= n.2160C= | |
2 | g.43875301C>G | CA426116411 | ABCG8 | c.1644C>G (p.Ala548=) c.1641C>G (p.Ala547=) c.1656C>G (p.Ala552=) c.1653C>G (p.Ala551=) c.1428C>G (p.Ala476=) n.2146C>G n.2160C>G | |
2 | g.43875301C>T | CA1637573 | ABCG8 | c.1644C>T (p.Ala548=) c.1641C>T (p.Ala547=) c.1656C>T (p.Ala552=) c.1653C>T (p.Ala551=) c.1428C>T (p.Ala476=) n.2146C>T n.2160C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875302G>A | CA1637574 | ABCG8 | c.1645G>A (p.Ala549Thr) c.1642G>A (p.Ala548Thr) c.1657G>A (p.Ala553Thr) c.1654G>A (p.Ala552Thr) c.1429G>A (p.Ala477Thr) n.2147G>A n.2161G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875302G>C | CA1637575 | ABCG8 | c.1645G>C (p.Ala549Pro) c.1642G>C (p.Ala548Pro) c.1657G>C (p.Ala553Pro) c.1654G>C (p.Ala552Pro) c.1429G>C (p.Ala477Pro) n.2147G>C n.2161G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875302G= | CA2493963673 | ABCG8 | c.1645G= (p.Ala549=) c.1642G= (p.Ala548=) c.1657G= (p.Ala553=) c.1654G= (p.Ala552=) c.1429G= (p.Ala477=) n.2147G= n.2161G= | |
2 | g.43875302G>T | CA346670507 | ABCG8 | c.1645G>T (p.Ala549Ser) c.1642G>T (p.Ala548Ser) c.1657G>T (p.Ala553Ser) c.1654G>T (p.Ala552Ser) c.1429G>T (p.Ala477Ser) n.2147G>T n.2161G>T | gnomAD v4 |
2 | g.43875303C>A | CA346670508 | ABCG8 | c.1646C>A (p.Ala549Asp) c.1643C>A (p.Ala548Asp) c.1658C>A (p.Ala553Asp) c.1655C>A (p.Ala552Asp) c.1430C>A (p.Ala477Asp) n.2148C>A n.2162C>A | |
2 | g.43875303C= | CA2493963674 | ABCG8 | c.1646C= (p.Ala549=) c.1643C= (p.Ala548=) c.1658C= (p.Ala553=) c.1655C= (p.Ala552=) c.1430C= (p.Ala477=) n.2148C= n.2162C= | |
2 | g.43875303C>G | CA346670509 | ABCG8 | c.1646C>G (p.Ala549Gly) c.1643C>G (p.Ala548Gly) c.1658C>G (p.Ala553Gly) c.1655C>G (p.Ala552Gly) c.1430C>G (p.Ala477Gly) n.2148C>G n.2162C>G | |
2 | g.43875303C>T | CA46471277 | ABCG8 | c.1646C>T (p.Ala549Val) c.1643C>T (p.Ala548Val) c.1658C>T (p.Ala553Val) c.1655C>T (p.Ala552Val) c.1430C>T (p.Ala477Val) n.2148C>T n.2162C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875304C>A | CA426116412 | ABCG8 | c.1647C>A (p.Ala549=) c.1644C>A (p.Ala548=) c.1659C>A (p.Ala553=) c.1656C>A (p.Ala552=) c.1431C>A (p.Ala477=) n.2149C>A n.2163C>A | |
2 | g.43875304C= | CA2493963675 | ABCG8 | c.1647C= (p.Ala549=) c.1644C= (p.Ala548=) c.1659C= (p.Ala553=) c.1656C= (p.Ala552=) c.1431C= (p.Ala477=) n.2149C= n.2163C= | |
2 | g.43875304C>G | CA426116413 | ABCG8 | c.1647C>G (p.Ala549=) c.1644C>G (p.Ala548=) c.1659C>G (p.Ala553=) c.1656C>G (p.Ala552=) c.1431C>G (p.Ala477=) n.2149C>G n.2163C>G | |
2 | g.43875304C>T | CA1637576 | ABCG8 | c.1647C>T (p.Ala549=) c.1644C>T (p.Ala548=) c.1659C>T (p.Ala553=) c.1656C>T (p.Ala552=) c.1431C>T (p.Ala477=) n.2149C>T n.2163C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875305G>A | CA1637577 | ABCG8 | c.1648G>A (p.Ala550Thr) c.1645G>A (p.Ala549Thr) c.1660G>A (p.Ala554Thr) c.1657G>A (p.Ala553Thr) c.1432G>A (p.Ala478Thr) n.2150G>A n.2164G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.43875305G>C | CA346670511 | ABCG8 | c.1648G>C (p.Ala550Pro) c.1645G>C (p.Ala549Pro) c.1660G>C (p.Ala554Pro) c.1657G>C (p.Ala553Pro) c.1432G>C (p.Ala478Pro) n.2150G>C n.2164G>C | |
2 | g.43875305G= | CA2493963676 | ABCG8 | c.1648G= (p.Ala550=) c.1645G= (p.Ala549=) c.1660G= (p.Ala554=) c.1657G= (p.Ala553=) c.1432G= (p.Ala478=) n.2150G= n.2164G= | |
2 | g.43875305G>T | CA346670510 | ABCG8 | c.1648G>T (p.Ala550Ser) c.1645G>T (p.Ala549Ser) c.1660G>T (p.Ala554Ser) c.1657G>T (p.Ala553Ser) c.1432G>T (p.Ala478Ser) n.2150G>T n.2164G>T | dbSNP gnomAD v4 |
2 | g.43875306C>A | CA1637579 | ABCG8 | c.1649C>A (p.Ala550Glu) c.1646C>A (p.Ala549Glu) c.1661C>A (p.Ala554Glu) c.1658C>A (p.Ala553Glu) c.1433C>A (p.Ala478Glu) n.2151C>A n.2165C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875306C= | CA2493963677 | ABCG8 | c.1649C= (p.Ala550=) c.1646C= (p.Ala549=) c.1661C= (p.Ala554=) c.1658C= (p.Ala553=) c.1433C= (p.Ala478=) n.2151C= n.2165C= | |
2 | g.43875306C>G | CA346670512 | ABCG8 | c.1649C>G (p.Ala550Gly) c.1646C>G (p.Ala549Gly) c.1661C>G (p.Ala554Gly) c.1658C>G (p.Ala553Gly) c.1433C>G (p.Ala478Gly) n.2151C>G n.2165C>G | |
2 | g.43875306C>T | CA1637578 | ABCG8 | c.1649C>T (p.Ala550Val) c.1646C>T (p.Ala549Val) c.1661C>T (p.Ala554Val) c.1658C>T (p.Ala553Val) c.1433C>T (p.Ala478Val) n.2151C>T n.2165C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875307G>A | CA1637580 | ABCG8 | c.1650G>A (p.Ala550=) c.1647G>A (p.Ala549=) c.1662G>A (p.Ala554=) c.1659G>A (p.Ala553=) c.1434G>A (p.Ala478=) n.2152G>A n.2166G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875307G>C | CA426116415 | ABCG8 | c.1650G>C (p.Ala550=) c.1647G>C (p.Ala549=) c.1662G>C (p.Ala554=) c.1659G>C (p.Ala553=) c.1434G>C (p.Ala478=) n.2152G>C n.2166G>C | |
2 | g.43875307G= | CA2493963678 | ABCG8 | c.1650G= (p.Ala550=) c.1647G= (p.Ala549=) c.1662G= (p.Ala554=) c.1659G= (p.Ala553=) c.1434G= (p.Ala478=) n.2152G= n.2166G= | |
2 | g.43875307G>T | CA426116414 | ABCG8 | c.1650G>T (p.Ala550=) c.1647G>T (p.Ala549=) c.1662G>T (p.Ala554=) c.1659G>T (p.Ala553=) c.1434G>T (p.Ala478=) n.2152G>T n.2166G>T | |
2 | g.43875308G>A | CA346670514 | ABCG8 | c.1651G>A (p.Ala551Thr) c.1648G>A (p.Ala550Thr) c.1663G>A (p.Ala555Thr) c.1660G>A (p.Ala554Thr) c.1435G>A (p.Ala479Thr) n.2153G>A n.2167G>A | gnomAD v4 |
2 | g.43875308G>C | CA346670513 | ABCG8 | c.1651G>C (p.Ala551Pro) c.1648G>C (p.Ala550Pro) c.1663G>C (p.Ala555Pro) c.1660G>C (p.Ala554Pro) c.1435G>C (p.Ala479Pro) n.2153G>C n.2167G>C | |
2 | g.43875308G>T | CA346670515 | ABCG8 | c.1651G>T (p.Ala551Ser) c.1648G>T (p.Ala550Ser) c.1663G>T (p.Ala555Ser) c.1660G>T (p.Ala554Ser) c.1435G>T (p.Ala479Ser) n.2153G>T n.2167G>T | |
2 | g.43875309C>A | CA346670516 | ABCG8 | c.1652C>A (p.Ala551Asp) c.1649C>A (p.Ala550Asp) c.1664C>A (p.Ala555Asp) c.1661C>A (p.Ala554Asp) c.1436C>A (p.Ala479Asp) n.2154C>A n.2168C>A | |
2 | g.43875309C>G | CA346670517 | ABCG8 | c.1652C>G (p.Ala551Gly) c.1649C>G (p.Ala550Gly) c.1664C>G (p.Ala555Gly) c.1661C>G (p.Ala554Gly) c.1436C>G (p.Ala479Gly) n.2154C>G n.2168C>G | |
2 | g.43875309C>T | CA346670518 | ABCG8 | c.1652C>T (p.Ala551Val) c.1649C>T (p.Ala550Val) c.1664C>T (p.Ala555Val) c.1661C>T (p.Ala554Val) c.1436C>T (p.Ala479Val) n.2154C>T n.2168C>T | |
2 | g.43875310C>A | CA426116418 | ABCG8 | c.1653C>A (p.Ala551=) c.1650C>A (p.Ala550=) c.1665C>A (p.Ala555=) c.1662C>A (p.Ala554=) c.1437C>A (p.Ala479=) n.2155C>A n.2169C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875310C= | CA2493963679 | ABCG8 | c.1653C= (p.Ala551=) c.1650C= (p.Ala550=) c.1665C= (p.Ala555=) c.1662C= (p.Ala554=) c.1437C= (p.Ala479=) n.2155C= n.2169C= | |
2 | g.43875310C>G | CA426116417 | ABCG8 | c.1653C>G (p.Ala551=) c.1650C>G (p.Ala550=) c.1665C>G (p.Ala555=) c.1662C>G (p.Ala554=) c.1437C>G (p.Ala479=) n.2155C>G n.2169C>G | |
2 | g.43875310C>T | CA426116416 | ABCG8 | c.1653C>T (p.Ala551=) c.1650C>T (p.Ala550=) c.1665C>T (p.Ala555=) c.1662C>T (p.Ala554=) c.1437C>T (p.Ala479=) n.2155C>T n.2169C>T | gnomAD v4 |
2 | g.43875311C>A | CA346670519 | ABCG8 | c.1654C>A (p.Leu552Met) c.1651C>A (p.Leu551Met) c.1666C>A (p.Leu556Met) c.1663C>A (p.Leu555Met) c.1438C>A (p.Leu480Met) n.2156C>A n.2170C>A | |
2 | g.43875311C= | CA2493963680 | ABCG8 | c.1654C= (p.Leu552=) c.1651C= (p.Leu551=) c.1666C= (p.Leu556=) c.1663C= (p.Leu555=) c.1438C= (p.Leu480=) n.2156C= n.2170C= | |
2 | g.43875311C>G | CA346670520 | ABCG8 | c.1654C>G (p.Leu552Val) c.1651C>G (p.Leu551Val) c.1666C>G (p.Leu556Val) c.1663C>G (p.Leu555Val) c.1438C>G (p.Leu480Val) n.2156C>G n.2170C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875311C>T | CA426116419 | ABCG8 | c.1654C>T (p.Leu552=) c.1651C>T (p.Leu551=) c.1666C>T (p.Leu556=) c.1663C>T (p.Leu555=) c.1438C>T (p.Leu480=) n.2156C>T n.2170C>T | |
2 | g.43875312T>A | CA346670521 | ABCG8 | c.1655T>A (p.Leu552Gln) c.1652T>A (p.Leu551Gln) c.1667T>A (p.Leu556Gln) c.1664T>A (p.Leu555Gln) c.1439T>A (p.Leu480Gln) n.2157T>A n.2171T>A | |
2 | g.43875312T>C | CA346670522 | ABCG8 | c.1655T>C (p.Leu552Pro) c.1652T>C (p.Leu551Pro) c.1667T>C (p.Leu556Pro) c.1664T>C (p.Leu555Pro) c.1439T>C (p.Leu480Pro) n.2157T>C n.2171T>C | |
2 | g.43875312T>G | CA346670523 | ABCG8 | c.1655T>G (p.Leu552Arg) c.1652T>G (p.Leu551Arg) c.1667T>G (p.Leu556Arg) c.1664T>G (p.Leu555Arg) c.1439T>G (p.Leu480Arg) n.2157T>G n.2171T>G | |
2 | g.43875313G>A | CA1637581 | ABCG8 | c.1656G>A (p.Leu552=) c.1653G>A (p.Leu551=) c.1668G>A (p.Leu556=) c.1665G>A (p.Leu555=) c.1440G>A (p.Leu480=) n.2158G>A n.2172G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875313G>C | CA426116420 | ABCG8 | c.1656G>C (p.Leu552=) c.1653G>C (p.Leu551=) c.1668G>C (p.Leu556=) c.1665G>C (p.Leu555=) c.1440G>C (p.Leu480=) n.2158G>C n.2172G>C | |
2 | g.43875313G= | CA2493963681 | ABCG8 | c.1656G= (p.Leu552=) c.1653G= (p.Leu551=) c.1668G= (p.Leu556=) c.1665G= (p.Leu555=) c.1440G= (p.Leu480=) n.2158G= n.2172G= | |
2 | g.43875313G>T | CA1637582 | ABCG8 | c.1656G>T (p.Leu552=) c.1653G>T (p.Leu551=) c.1668G>T (p.Leu556=) c.1665G>T (p.Leu555=) c.1440G>T (p.Leu480=) n.2158G>T n.2172G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875314C>A | CA346670524 | ABCG8 | c.1657C>A (p.Leu553Ile) c.1654C>A (p.Leu552Ile) c.1669C>A (p.Leu557Ile) c.1666C>A (p.Leu556Ile) c.1441C>A (p.Leu481Ile) n.2159C>A n.2173C>A | dbSNP |
2 | g.43875314C= | CA2493963682 | ABCG8 | c.1657C= (p.Leu553=) c.1654C= (p.Leu552=) c.1669C= (p.Leu557=) c.1666C= (p.Leu556=) c.1441C= (p.Leu481=) n.2159C= n.2173C= | |
2 | g.43875314C>G | CA346670525 | ABCG8 | c.1657C>G (p.Leu553Val) c.1654C>G (p.Leu552Val) c.1669C>G (p.Leu557Val) c.1666C>G (p.Leu556Val) c.1441C>G (p.Leu481Val) n.2159C>G n.2173C>G | |
2 | g.43875314C>T | CA346670526 | ABCG8 | c.1657C>T (p.Leu553Phe) c.1654C>T (p.Leu552Phe) c.1669C>T (p.Leu557Phe) c.1666C>T (p.Leu556Phe) c.1441C>T (p.Leu481Phe) n.2159C>T n.2173C>T | ClinVar dbSNP gnomAD v4 |
2 | g.43875315T>A | CA346670527 | ABCG8 | c.1658T>A (p.Leu553His) c.1655T>A (p.Leu552His) c.1670T>A (p.Leu557His) c.1667T>A (p.Leu556His) c.1442T>A (p.Leu481His) n.2160T>A n.2174T>A | |
2 | g.43875315T>C | CA346670529 | ABCG8 | c.1658T>C (p.Leu553Pro) c.1655T>C (p.Leu552Pro) c.1670T>C (p.Leu557Pro) c.1667T>C (p.Leu556Pro) c.1442T>C (p.Leu481Pro) n.2160T>C n.2174T>C | |
2 | g.43875315T>G | CA346670528 | ABCG8 | c.1658T>G (p.Leu553Arg) c.1655T>G (p.Leu552Arg) c.1670T>G (p.Leu557Arg) c.1667T>G (p.Leu556Arg) c.1442T>G (p.Leu481Arg) n.2160T>G n.2174T>G | |
2 | g.43875316C>A | CA426116421 | ABCG8 | c.1659C>A (p.Leu553=) c.1656C>A (p.Leu552=) c.1671C>A (p.Leu557=) c.1668C>A (p.Leu556=) c.1443C>A (p.Leu481=) n.2161C>A n.2175C>A | |
2 | g.43875316C= | CA2493963683 | ABCG8 | c.1659C= (p.Leu553=) c.1656C= (p.Leu552=) c.1671C= (p.Leu557=) c.1668C= (p.Leu556=) c.1443C= (p.Leu481=) n.2161C= n.2175C= | |
2 | g.43875316C>G | CA426116422 | ABCG8 | c.1659C>G (p.Leu553=) c.1656C>G (p.Leu552=) c.1671C>G (p.Leu557=) c.1668C>G (p.Leu556=) c.1443C>G (p.Leu481=) n.2161C>G n.2175C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875316C>T | CA426116423 | ABCG8 | c.1659C>T (p.Leu553=) c.1656C>T (p.Leu552=) c.1671C>T (p.Leu557=) c.1668C>T (p.Leu556=) c.1443C>T (p.Leu481=) n.2161C>T n.2175C>T | |
2 | g.43875317C>A | CA346670530 | ABCG8 | c.1660C>A (p.Pro554Thr) c.1657C>A (p.Pro553Thr) c.1672C>A (p.Pro558Thr) c.1669C>A (p.Pro557Thr) c.1444C>A (p.Pro482Thr) n.2162C>A n.2176C>A | |
2 | g.43875317C= | CA2493963684 | ABCG8 | c.1660C= (p.Pro554=) c.1657C= (p.Pro553=) c.1672C= (p.Pro558=) c.1669C= (p.Pro557=) c.1444C= (p.Pro482=) n.2162C= n.2176C= | |
2 | g.43875317C>G | CA46471310 | ABCG8 | c.1660C>G (p.Pro554Ala) c.1657C>G (p.Pro553Ala) c.1672C>G (p.Pro558Ala) c.1669C>G (p.Pro557Ala) c.1444C>G (p.Pro482Ala) n.2162C>G n.2176C>G | dbSNP |
2 | g.43875317C>T | CA346670531 | ABCG8 | c.1660C>T (p.Pro554Ser) c.1657C>T (p.Pro553Ser) c.1672C>T (p.Pro558Ser) c.1669C>T (p.Pro557Ser) c.1444C>T (p.Pro482Ser) n.2162C>T n.2176C>T | gnomAD v4 |
2 | g.43875318C>A | CA346670532 | ABCG8 | c.1661C>A (p.Pro554His) c.1658C>A (p.Pro553His) c.1673C>A (p.Pro558His) c.1670C>A (p.Pro557His) c.1445C>A (p.Pro482His) n.2163C>A n.2177C>A | |
2 | g.43875318C= | CA2493963685 | ABCG8 | c.1661C= (p.Pro554=) c.1658C= (p.Pro553=) c.1673C= (p.Pro558=) c.1670C= (p.Pro557=) c.1445C= (p.Pro482=) n.2163C= n.2177C= | |
2 | g.43875318C>G | CA346670533 | ABCG8 | c.1661C>G (p.Pro554Arg) c.1658C>G (p.Pro553Arg) c.1673C>G (p.Pro558Arg) c.1670C>G (p.Pro557Arg) c.1445C>G (p.Pro482Arg) n.2163C>G n.2177C>G | dbSNP |
2 | g.43875318C>T | CA346670534 | ABCG8 | c.1661C>T (p.Pro554Leu) c.1658C>T (p.Pro553Leu) c.1673C>T (p.Pro558Leu) c.1670C>T (p.Pro557Leu) c.1445C>T (p.Pro482Leu) n.2163C>T n.2177C>T | |
2 | g.43875319C>A | CA426116424 | ABCG8 | c.1662C>A (p.Pro554=) c.1659C>A (p.Pro553=) c.1674C>A (p.Pro558=) c.1671C>A (p.Pro557=) c.1446C>A (p.Pro482=) n.2164C>A n.2178C>A | |
2 | g.43875319C= | CA2493963686 | ABCG8 | c.1662C= (p.Pro554=) c.1659C= (p.Pro553=) c.1674C= (p.Pro558=) c.1671C= (p.Pro557=) c.1446C= (p.Pro482=) n.2164C= n.2178C= | |
2 | g.43875319C>G | CA426116425 | ABCG8 | c.1662C>G (p.Pro554=) c.1659C>G (p.Pro553=) c.1674C>G (p.Pro558=) c.1671C>G (p.Pro557=) c.1446C>G (p.Pro482=) n.2164C>G n.2178C>G | |
2 | g.43875319C>T | CA1637583 | ABCG8 | c.1662C>T (p.Pro554=) c.1659C>T (p.Pro553=) c.1674C>T (p.Pro558=) c.1671C>T (p.Pro557=) c.1446C>T (p.Pro482=) n.2164C>T n.2178C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875320A>C | CA346670535 | ABCG8 | c.1663A>C (p.Thr555Pro) c.1660A>C (p.Thr554Pro) c.1675A>C (p.Thr559Pro) c.1672A>C (p.Thr558Pro) c.1447A>C (p.Thr483Pro) n.2165A>C n.2179A>C | |
2 | g.43875320A>G | CA346670536 | ABCG8 | c.1663A>G (p.Thr555Ala) c.1660A>G (p.Thr554Ala) c.1675A>G (p.Thr559Ala) c.1672A>G (p.Thr558Ala) c.1447A>G (p.Thr483Ala) n.2165A>G n.2179A>G | |
2 | g.43875320A>T | CA346670537 | ABCG8 | c.1663A>T (p.Thr555Ser) c.1660A>T (p.Thr554Ser) c.1675A>T (p.Thr559Ser) c.1672A>T (p.Thr558Ser) c.1447A>T (p.Thr483Ser) n.2165A>T n.2179A>T | |
2 | g.43875321C>A | CA346670540 | ABCG8 | c.1664C>A (p.Thr555Asn) c.1661C>A (p.Thr554Asn) c.1676C>A (p.Thr559Asn) c.1673C>A (p.Thr558Asn) c.1448C>A (p.Thr483Asn) n.2166C>A n.2180C>A | |
2 | g.43875321C= | CA2493963687 | ABCG8 | c.1664C= (p.Thr555=) c.1661C= (p.Thr554=) c.1676C= (p.Thr559=) c.1673C= (p.Thr558=) c.1448C= (p.Thr483=) n.2166C= n.2180C= | |
2 | g.43875321C>G | CA346670539 | ABCG8 | c.1664C>G (p.Thr555Ser) c.1661C>G (p.Thr554Ser) c.1676C>G (p.Thr559Ser) c.1673C>G (p.Thr558Ser) c.1448C>G (p.Thr483Ser) n.2166C>G n.2180C>G | |
2 | g.43875321C>T | CA346670538 | ABCG8 | c.1664C>T (p.Thr555Ile) c.1661C>T (p.Thr554Ile) c.1676C>T (p.Thr559Ile) c.1673C>T (p.Thr558Ile) c.1448C>T (p.Thr483Ile) n.2166C>T n.2180C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875322C>A | CA426116426 | ABCG8 | c.1665C>A (p.Thr555=) c.1662C>A (p.Thr554=) c.1677C>A (p.Thr559=) c.1674C>A (p.Thr558=) c.1449C>A (p.Thr483=) n.2167C>A n.2181C>A | |
2 | g.43875322C= | CA2493963688 | ABCG8 | c.1665C= (p.Thr555=) c.1662C= (p.Thr554=) c.1677C= (p.Thr559=) c.1674C= (p.Thr558=) c.1449C= (p.Thr483=) n.2167C= n.2181C= | |
2 | g.43875322C>G | CA1637584 | ABCG8 | c.1665C>G (p.Thr555=) c.1662C>G (p.Thr554=) c.1677C>G (p.Thr559=) c.1674C>G (p.Thr558=) c.1449C>G (p.Thr483=) n.2167C>G n.2181C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.43875322C>T | CA426116427 | ABCG8 | c.1665C>T (p.Thr555=) c.1662C>T (p.Thr554=) c.1677C>T (p.Thr559=) c.1674C>T (p.Thr558=) c.1449C>T (p.Thr483=) n.2167C>T n.2181C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875323T>A | CA346670541 | ABCG8 | c.1666T>A (p.Phe556Ile) c.1663T>A (p.Phe555Ile) c.1678T>A (p.Phe560Ile) c.1675T>A (p.Phe559Ile) c.1450T>A (p.Phe484Ile) n.2168T>A n.2182T>A | |
2 | g.43875323T>C | CA346670542 | ABCG8 | c.1666T>C (p.Phe556Leu) c.1663T>C (p.Phe555Leu) c.1678T>C (p.Phe560Leu) c.1675T>C (p.Phe559Leu) c.1450T>C (p.Phe484Leu) n.2168T>C n.2182T>C | |
2 | g.43875323T>G | CA346670543 | ABCG8 | c.1666T>G (p.Phe556Val) c.1663T>G (p.Phe555Val) c.1678T>G (p.Phe560Val) c.1675T>G (p.Phe559Val) c.1450T>G (p.Phe484Val) n.2168T>G n.2182T>G | |
2 | g.43875324T>A | CA346670544 | ABCG8 | c.1667T>A (p.Phe556Tyr) c.1664T>A (p.Phe555Tyr) c.1679T>A (p.Phe560Tyr) c.1676T>A (p.Phe559Tyr) c.1451T>A (p.Phe484Tyr) n.2169T>A n.2183T>A | |
2 | g.43875324T>C | CA1637585 | ABCG8 | c.1667T>C (p.Phe556Ser) c.1664T>C (p.Phe555Ser) c.1679T>C (p.Phe560Ser) c.1676T>C (p.Phe559Ser) c.1451T>C (p.Phe484Ser) n.2169T>C n.2183T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875324T>G | CA346670545 | ABCG8 | c.1667T>G (p.Phe556Cys) c.1664T>G (p.Phe555Cys) c.1679T>G (p.Phe560Cys) c.1676T>G (p.Phe559Cys) c.1451T>G (p.Phe484Cys) n.2169T>G n.2183T>G | |
2 | g.43875324T= | CA2493963689 | ABCG8 | c.1667T= (p.Phe556=) c.1664T= (p.Phe555=) c.1679T= (p.Phe560=) c.1676T= (p.Phe559=) c.1451T= (p.Phe484=) n.2169T= n.2183T= | |
2 | g.43875325C>A | CA346670546 | ABCG8 | c.1668C>A (p.Phe556Leu) c.1665C>A (p.Phe555Leu) c.1680C>A (p.Phe560Leu) c.1677C>A (p.Phe559Leu) c.1452C>A (p.Phe484Leu) n.2170C>A n.2184C>A | gnomAD v4 |
2 | g.43875325C>G | CA346670547 | ABCG8 | c.1668C>G (p.Phe556Leu) c.1665C>G (p.Phe555Leu) c.1680C>G (p.Phe560Leu) c.1677C>G (p.Phe559Leu) c.1452C>G (p.Phe484Leu) n.2170C>G n.2184C>G | gnomAD v4 |
2 | g.43875325C>T | CA426116428 | ABCG8 | c.1668C>T (p.Phe556=) c.1665C>T (p.Phe555=) c.1680C>T (p.Phe560=) c.1677C>T (p.Phe559=) c.1452C>T (p.Phe484=) n.2170C>T n.2184C>T | |
2 | g.43875326C>A | CA346670548 | ABCG8 | c.1669C>A (p.His557Asn) c.1666C>A (p.His556Asn) c.1681C>A (p.His561Asn) c.1678C>A (p.His560Asn) c.1453C>A (p.His485Asn) n.2171C>A n.2185C>A | |
2 | g.43875326C= | CA2493963690 | ABCG8 | c.1669C= (p.His557=) c.1666C= (p.His556=) c.1681C= (p.His561=) c.1678C= (p.His560=) c.1453C= (p.His485=) n.2171C= n.2185C= | |
2 | g.43875326C>G | CA346670549 | ABCG8 | c.1669C>G (p.His557Asp) c.1666C>G (p.His556Asp) c.1681C>G (p.His561Asp) c.1678C>G (p.His560Asp) c.1453C>G (p.His485Asp) n.2171C>G n.2185C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875326C>T | CA346670550 | ABCG8 | c.1669C>T (p.His557Tyr) c.1666C>T (p.His556Tyr) c.1681C>T (p.His561Tyr) c.1678C>T (p.His560Tyr) c.1453C>T (p.His485Tyr) n.2171C>T n.2185C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875327A>C | CA346670553 | ABCG8 | c.1670A>C (p.His557Pro) c.1667A>C (p.His556Pro) c.1682A>C (p.His561Pro) c.1679A>C (p.His560Pro) c.1454A>C (p.His485Pro) n.2172A>C n.2186A>C | |
2 | g.43875327A>G | CA346670551 | ABCG8 | c.1670A>G (p.His557Arg) c.1667A>G (p.His556Arg) c.1682A>G (p.His561Arg) c.1679A>G (p.His560Arg) c.1454A>G (p.His485Arg) n.2172A>G n.2186A>G | |
2 | g.43875327A>T | CA346670552 | ABCG8 | c.1670A>T (p.His557Leu) c.1667A>T (p.His556Leu) c.1682A>T (p.His561Leu) c.1679A>T (p.His560Leu) c.1454A>T (p.His485Leu) n.2172A>T n.2186A>T | |
2 | g.43875328C>A | CA346670554 | ABCG8 | c.1671C>A (p.His557Gln) c.1668C>A (p.His556Gln) c.1683C>A (p.His561Gln) c.1680C>A (p.His560Gln) c.1455C>A (p.His485Gln) n.2173C>A n.2187C>A | |
2 | g.43875328C>G | CA346670555 | ABCG8 | c.1671C>G (p.His557Gln) c.1668C>G (p.His556Gln) c.1683C>G (p.His561Gln) c.1680C>G (p.His560Gln) c.1455C>G (p.His485Gln) n.2173C>G n.2187C>G | gnomAD v4 |
2 | g.43875328C>T | CA426116429 | ABCG8 | c.1671C>T (p.His557=) c.1668C>T (p.His556=) c.1683C>T (p.His561=) c.1680C>T (p.His560=) c.1455C>T (p.His485=) n.2173C>T n.2187C>T | gnomAD v4 |
2 | g.43875329A= | CA2493963691 | ABCG8 | c.1672A= (p.Met558=) c.1669A= (p.Met557=) c.1684A= (p.Met562=) c.1681A= (p.Met561=) c.1456A= (p.Met486=) n.2174A= n.2188A= | |
2 | g.43875329A>C | CA346670556 | ABCG8 | c.1672A>C (p.Met558Leu) c.1669A>C (p.Met557Leu) c.1684A>C (p.Met562Leu) c.1681A>C (p.Met561Leu) c.1456A>C (p.Met486Leu) n.2174A>C n.2188A>C | |
2 | g.43875329A>G | CA1637586 | ABCG8 | c.1672A>G (p.Met558Val) c.1669A>G (p.Met557Val) c.1684A>G (p.Met562Val) c.1681A>G (p.Met561Val) c.1456A>G (p.Met486Val) n.2174A>G n.2188A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875329A>T | CA346670557 | ABCG8 | c.1672A>T (p.Met558Leu) c.1669A>T (p.Met557Leu) c.1684A>T (p.Met562Leu) c.1681A>T (p.Met561Leu) c.1456A>T (p.Met486Leu) n.2174A>T n.2188A>T | |
2 | g.43875330T>A | CA1637587 | ABCG8 | c.1673T>A (p.Met558Lys) c.1670T>A (p.Met557Lys) c.1685T>A (p.Met562Lys) c.1682T>A (p.Met561Lys) c.1457T>A (p.Met486Lys) n.2175T>A n.2189T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875330T>C | CA346670558 | ABCG8 | c.1673T>C (p.Met558Thr) c.1670T>C (p.Met557Thr) c.1685T>C (p.Met562Thr) c.1682T>C (p.Met561Thr) c.1457T>C (p.Met486Thr) n.2175T>C n.2189T>C | |
2 | g.43875330T>G | CA346670559 | ABCG8 | c.1673T>G (p.Met558Arg) c.1670T>G (p.Met557Arg) c.1685T>G (p.Met562Arg) c.1682T>G (p.Met561Arg) c.1457T>G (p.Met486Arg) n.2175T>G n.2189T>G | |
2 | g.43875330T= | CA2493963692 | ABCG8 | c.1673T= (p.Met558=) c.1670T= (p.Met557=) c.1685T= (p.Met562=) c.1682T= (p.Met561=) c.1457T= (p.Met486=) n.2175T= n.2189T= | |
2 | g.43875331G>A | CA346670560 | ABCG8 | c.1674G>A (p.Met558Ile) c.1671G>A (p.Met557Ile) c.1686G>A (p.Met562Ile) c.1683G>A (p.Met561Ile) c.1458G>A (p.Met486Ile) n.2176G>A n.2190G>A | |
2 | g.43875331G>C | CA346670561 | ABCG8 | c.1674G>C (p.Met558Ile) c.1671G>C (p.Met557Ile) c.1686G>C (p.Met562Ile) c.1683G>C (p.Met561Ile) c.1458G>C (p.Met486Ile) n.2176G>C n.2190G>C | |
2 | g.43875331G>T | CA346670562 | ABCG8 | c.1674G>T (p.Met558Ile) c.1671G>T (p.Met557Ile) c.1686G>T (p.Met562Ile) c.1683G>T (p.Met561Ile) c.1458G>T (p.Met486Ile) n.2176G>T n.2190G>T | gnomAD v4 |
2 | g.43875332G>A | CA346670564 | ABCG8 | c.1675G>A (p.Ala559Thr) c.1672G>A (p.Ala558Thr) c.1687G>A (p.Ala563Thr) c.1684G>A (p.Ala562Thr) c.1459G>A (p.Ala487Thr) n.2177G>A n.2191G>A | |
2 | g.43875332G>C | CA346670563 | ABCG8 | c.1675G>C (p.Ala559Pro) c.1672G>C (p.Ala558Pro) c.1687G>C (p.Ala563Pro) c.1684G>C (p.Ala562Pro) c.1459G>C (p.Ala487Pro) n.2177G>C n.2191G>C | ClinVar |
2 | g.43875332G= | CA2493963693 | ABCG8 | c.1675G= (p.Ala559=) c.1672G= (p.Ala558=) c.1687G= (p.Ala563=) c.1684G= (p.Ala562=) c.1459G= (p.Ala487=) n.2177G= n.2191G= | |
2 | g.43875332G>T | CA10615481 | ABCG8 | c.1675G>T (p.Ala559Ser) c.1672G>T (p.Ala558Ser) c.1687G>T (p.Ala563Ser) c.1684G>T (p.Ala562Ser) c.1459G>T (p.Ala487Ser) n.2177G>T n.2191G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875333C>A | CA346670565 | ABCG8 | c.1676C>A (p.Ala559Asp) c.1673C>A (p.Ala558Asp) c.1688C>A (p.Ala563Asp) c.1685C>A (p.Ala562Asp) c.1460C>A (p.Ala487Asp) n.2178C>A n.2192C>A | |
2 | g.43875333C>G | CA346670566 | ABCG8 | c.1676C>G (p.Ala559Gly) c.1673C>G (p.Ala558Gly) c.1688C>G (p.Ala563Gly) c.1685C>G (p.Ala562Gly) c.1460C>G (p.Ala487Gly) n.2178C>G n.2192C>G | |
2 | g.43875333C>T | CA346670567 | ABCG8 | c.1676C>T (p.Ala559Val) c.1673C>T (p.Ala558Val) c.1688C>T (p.Ala563Val) c.1685C>T (p.Ala562Val) c.1460C>T (p.Ala487Val) n.2178C>T n.2192C>T | |
2 | g.43875334C>A | CA426116432 | ABCG8 | c.1677C>A (p.Ala559=) c.1674C>A (p.Ala558=) c.1689C>A (p.Ala563=) c.1686C>A (p.Ala562=) c.1461C>A (p.Ala487=) n.2179C>A n.2193C>A | |
2 | g.43875334C= | CA2493963694 | ABCG8 | c.1677C= (p.Ala559=) c.1674C= (p.Ala558=) c.1689C= (p.Ala563=) c.1686C= (p.Ala562=) c.1461C= (p.Ala487=) n.2179C= n.2193C= | |
2 | g.43875334C>G | CA426116431 | ABCG8 | c.1677C>G (p.Ala559=) c.1674C>G (p.Ala558=) c.1689C>G (p.Ala563=) c.1686C>G (p.Ala562=) c.1461C>G (p.Ala487=) n.2179C>G n.2193C>G | dbSNP gnomAD v4 |
2 | g.43875334C>T | CA426116430 | ABCG8 | c.1677C>T (p.Ala559=) c.1674C>T (p.Ala558=) c.1689C>T (p.Ala563=) c.1686C>T (p.Ala562=) c.1461C>T (p.Ala487=) n.2179C>T n.2193C>T | gnomAD v4 |
2 | g.43875335T>A | CA346670568 | ABCG8 | c.1678T>A (p.Ser560Thr) c.1675T>A (p.Ser559Thr) c.1690T>A (p.Ser564Thr) c.1687T>A (p.Ser563Thr) c.1462T>A (p.Ser488Thr) n.2180T>A n.2194T>A | |
2 | g.43875335T>C | CA346670569 | ABCG8 | c.1678T>C (p.Ser560Pro) c.1675T>C (p.Ser559Pro) c.1690T>C (p.Ser564Pro) c.1687T>C (p.Ser563Pro) c.1462T>C (p.Ser488Pro) n.2180T>C n.2194T>C | |
2 | g.43875335T>G | CA346670570 | ABCG8 | c.1678T>G (p.Ser560Ala) c.1675T>G (p.Ser559Ala) c.1690T>G (p.Ser564Ala) c.1687T>G (p.Ser563Ala) c.1462T>G (p.Ser488Ala) n.2180T>G n.2194T>G | ClinVar gnomAD v4 |
2 | g.43875335_43875336delinsTC | CA2493963695 | ABCG8 | c.1678_1679delinsTC (p.Ser560=) c.1675_1676delinsTC (p.Ser559=) c.1690_1691delinsTC (p.Ser564=) c.1687_1688delinsTC (p.Ser563=) c.1462_1463delinsTC (p.Ser488=) n.2180_2181delinsTC n.2194_2195delinsTC | |
2 | g.43875336C>A | CA346670571 | ABCG8 | c.1679C>A (p.Ser560Tyr) c.1676C>A (p.Ser559Tyr) c.1691C>A (p.Ser564Tyr) c.1688C>A (p.Ser563Tyr) c.1463C>A (p.Ser488Tyr) n.2181C>A n.2195C>A | |
2 | g.43875336C>G | CA346670572 | ABCG8 | c.1679C>G (p.Ser560Cys) c.1676C>G (p.Ser559Cys) c.1691C>G (p.Ser564Cys) c.1688C>G (p.Ser563Cys) c.1463C>G (p.Ser488Cys) n.2181C>G n.2195C>G | |
2 | g.43875336C>T | CA346670573 | ABCG8 | c.1679C>T (p.Ser560Phe) c.1676C>T (p.Ser559Phe) c.1691C>T (p.Ser564Phe) c.1688C>T (p.Ser563Phe) c.1463C>T (p.Ser488Phe) n.2181C>T n.2195C>T | ClinVar |
2 | g.43875337del | CA1637588 | ABCG8 | c.1680del (p.Phe561SerfsTer17) c.1677del (p.Phe560SerfsTer17) c.1692del (p.Phe565SerfsTer17) c.1689del (p.Phe564SerfsTer17) c.1464del (p.Phe489SerfsTer17) n.2182del n.2196del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875337C>A | CA426116433 | ABCG8 | c.1680C>A (p.Ser560=) c.1677C>A (p.Ser559=) c.1692C>A (p.Ser564=) c.1689C>A (p.Ser563=) c.1464C>A (p.Ser488=) n.2182C>A n.2196C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875337C= | CA2493963696 | ABCG8 | c.1680C= (p.Ser560=) c.1677C= (p.Ser559=) c.1692C= (p.Ser564=) c.1689C= (p.Ser563=) c.1464C= (p.Ser488=) n.2182C= n.2196C= | |
2 | g.43875337C>G | CA426116434 | ABCG8 | c.1680C>G (p.Ser560=) c.1677C>G (p.Ser559=) c.1692C>G (p.Ser564=) c.1689C>G (p.Ser563=) c.1464C>G (p.Ser488=) n.2182C>G n.2196C>G | |
2 | g.43875337C>T | CA426116435 | ABCG8 | c.1680C>T (p.Ser560=) c.1677C>T (p.Ser559=) c.1692C>T (p.Ser564=) c.1689C>T (p.Ser563=) c.1464C>T (p.Ser488=) n.2182C>T n.2196C>T | dbSNP gnomAD v4 |
2 | g.43875341_43875343del | CA2658831271 | ABCG8 | c.1684_1686del (p.Phe562del) c.1681_1683del (p.Phe561del) c.1696_1698del (p.Phe566del) c.1693_1695del (p.Phe565del) c.1468_1470del (p.Phe490del) n.2186_2188del n.2200_2202del | gnomAD v4 |
2 | g.43875338T>A | CA346670574 | ABCG8 | c.1681T>A (p.Phe561Ile) c.1678T>A (p.Phe560Ile) c.1693T>A (p.Phe565Ile) c.1690T>A (p.Phe564Ile) c.1465T>A (p.Phe489Ile) n.2183T>A n.2197T>A | |
2 | g.43875338T>C | CA346670575 | ABCG8 | c.1681T>C (p.Phe561Leu) c.1678T>C (p.Phe560Leu) c.1693T>C (p.Phe565Leu) c.1690T>C (p.Phe564Leu) c.1465T>C (p.Phe489Leu) n.2183T>C n.2197T>C | dbSNP gnomAD v4 |
2 | g.43875338T>G | CA346670576 | ABCG8 | c.1681T>G (p.Phe561Val) c.1678T>G (p.Phe560Val) c.1693T>G (p.Phe565Val) c.1690T>G (p.Phe564Val) c.1465T>G (p.Phe489Val) n.2183T>G n.2197T>G | |
2 | g.43875338T= | CA2493963697 | ABCG8 | c.1681T= (p.Phe561=) c.1678T= (p.Phe560=) c.1693T= (p.Phe565=) c.1690T= (p.Phe564=) c.1465T= (p.Phe489=) n.2183T= n.2197T= | |
2 | g.43875339T>A | CA346670579 | ABCG8 | c.1682T>A (p.Phe561Tyr) c.1679T>A (p.Phe560Tyr) c.1694T>A (p.Phe565Tyr) c.1691T>A (p.Phe564Tyr) c.1466T>A (p.Phe489Tyr) n.2184T>A n.2198T>A | |
2 | g.43875339T>C | CA346670578 | ABCG8 | c.1682T>C (p.Phe561Ser) c.1679T>C (p.Phe560Ser) c.1694T>C (p.Phe565Ser) c.1691T>C (p.Phe564Ser) c.1466T>C (p.Phe489Ser) n.2184T>C n.2198T>C | |
2 | g.43875339T>G | CA346670577 | ABCG8 | c.1682T>G (p.Phe561Cys) c.1679T>G (p.Phe560Cys) c.1694T>G (p.Phe565Cys) c.1691T>G (p.Phe564Cys) c.1466T>G (p.Phe489Cys) n.2184T>G n.2198T>G | |
2 | g.43875340C>A | CA346670580 | ABCG8 | c.1683C>A (p.Phe561Leu) c.1680C>A (p.Phe560Leu) c.1695C>A (p.Phe565Leu) c.1692C>A (p.Phe564Leu) c.1467C>A (p.Phe489Leu) n.2185C>A n.2199C>A | |
2 | g.43875340C>G | CA346670581 | ABCG8 | c.1683C>G (p.Phe561Leu) c.1680C>G (p.Phe560Leu) c.1695C>G (p.Phe565Leu) c.1692C>G (p.Phe564Leu) c.1467C>G (p.Phe489Leu) n.2185C>G n.2199C>G | |
2 | g.43875340C>T | CA426116436 | ABCG8 | c.1683C>T (p.Phe561=) c.1680C>T (p.Phe560=) c.1695C>T (p.Phe565=) c.1692C>T (p.Phe564=) c.1467C>T (p.Phe489=) n.2185C>T n.2199C>T | |
2 | g.43875341T>A | CA346670582 | ABCG8 | c.1684T>A (p.Phe562Ile) c.1681T>A (p.Phe561Ile) c.1696T>A (p.Phe566Ile) c.1693T>A (p.Phe565Ile) c.1468T>A (p.Phe490Ile) n.2186T>A n.2200T>A | |
2 | g.43875341T>C | CA346670583 | ABCG8 | c.1684T>C (p.Phe562Leu) c.1681T>C (p.Phe561Leu) c.1696T>C (p.Phe566Leu) c.1693T>C (p.Phe565Leu) c.1468T>C (p.Phe490Leu) n.2186T>C n.2200T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875341T>G | CA346670584 | ABCG8 | c.1684T>G (p.Phe562Val) c.1681T>G (p.Phe561Val) c.1696T>G (p.Phe566Val) c.1693T>G (p.Phe565Val) c.1468T>G (p.Phe490Val) n.2186T>G n.2200T>G | |
2 | g.43875341T= | CA2493963698 | ABCG8 | c.1684T= (p.Phe562=) c.1681T= (p.Phe561=) c.1696T= (p.Phe566=) c.1693T= (p.Phe565=) c.1468T= (p.Phe490=) n.2186T= n.2200T= | |
2 | g.43875342T>A | CA346670585 | ABCG8 | c.1685T>A (p.Phe562Tyr) c.1682T>A (p.Phe561Tyr) c.1697T>A (p.Phe566Tyr) c.1694T>A (p.Phe565Tyr) c.1469T>A (p.Phe490Tyr) n.2187T>A n.2201T>A | |
2 | g.43875342T>C | CA346670586 | ABCG8 | c.1685T>C (p.Phe562Ser) c.1682T>C (p.Phe561Ser) c.1697T>C (p.Phe566Ser) c.1694T>C (p.Phe565Ser) c.1469T>C (p.Phe490Ser) n.2187T>C n.2201T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875342T>G | CA346670587 | ABCG8 | c.1685T>G (p.Phe562Cys) c.1682T>G (p.Phe561Cys) c.1697T>G (p.Phe566Cys) c.1694T>G (p.Phe565Cys) c.1469T>G (p.Phe490Cys) n.2187T>G n.2201T>G | gnomAD v4 |
2 | g.43875342T= | CA2493963699 | ABCG8 | c.1685T= (p.Phe562=) c.1682T= (p.Phe561=) c.1697T= (p.Phe566=) c.1694T= (p.Phe565=) c.1469T= (p.Phe490=) n.2187T= n.2201T= | |
2 | g.43875343C>A | CA346670588 | ABCG8 | c.1686C>A (p.Phe562Leu) c.1683C>A (p.Phe561Leu) c.1698C>A (p.Phe566Leu) c.1695C>A (p.Phe565Leu) c.1470C>A (p.Phe490Leu) n.2188C>A n.2202C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875343C= | CA2493963700 | ABCG8 | c.1686C= (p.Phe562=) c.1683C= (p.Phe561=) c.1698C= (p.Phe566=) c.1695C= (p.Phe565=) c.1470C= (p.Phe490=) n.2188C= n.2202C= | |
2 | g.43875343C>G | CA346670589 | ABCG8 | c.1686C>G (p.Phe562Leu) c.1683C>G (p.Phe561Leu) c.1698C>G (p.Phe566Leu) c.1695C>G (p.Phe565Leu) c.1470C>G (p.Phe490Leu) n.2188C>G n.2202C>G | |
2 | g.43875343C>T | CA426116437 | ABCG8 | c.1686C>T (p.Phe562=) c.1683C>T (p.Phe561=) c.1698C>T (p.Phe566=) c.1695C>T (p.Phe565=) c.1470C>T (p.Phe490=) n.2188C>T n.2202C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875344A>C | CA346670590 | ABCG8 | c.1687A>C (p.Ser563Arg) c.1684A>C (p.Ser562Arg) c.1699A>C (p.Ser567Arg) c.1696A>C (p.Ser566Arg) c.1471A>C (p.Ser491Arg) n.2189A>C n.2203A>C | |
2 | g.43875344A>G | CA346670591 | ABCG8 | c.1687A>G (p.Ser563Gly) c.1684A>G (p.Ser562Gly) c.1699A>G (p.Ser567Gly) c.1696A>G (p.Ser566Gly) c.1471A>G (p.Ser491Gly) n.2189A>G n.2203A>G | |
2 | g.43875344A>T | CA346670592 | ABCG8 | c.1687A>T (p.Ser563Cys) c.1684A>T (p.Ser562Cys) c.1699A>T (p.Ser567Cys) c.1696A>T (p.Ser566Cys) c.1471A>T (p.Ser491Cys) n.2189A>T n.2203A>T | |
2 | g.43875345G>A | CA346670594 | ABCG8 | c.1688G>A (p.Ser563Asn) c.1685G>A (p.Ser562Asn) c.1700G>A (p.Ser567Asn) c.1697G>A (p.Ser566Asn) c.1472G>A (p.Ser491Asn) n.2190G>A n.2204G>A | gnomAD v4 |
2 | g.43875345G>C | CA346670595 | ABCG8 | c.1688G>C (p.Ser563Thr) c.1685G>C (p.Ser562Thr) c.1700G>C (p.Ser567Thr) c.1697G>C (p.Ser566Thr) c.1472G>C (p.Ser491Thr) n.2190G>C n.2204G>C | gnomAD v4 |
2 | g.43875345G= | CA2493963702 | ABCG8 | c.1688G= (p.Ser563=) c.1685G= (p.Ser562=) c.1700G= (p.Ser567=) c.1697G= (p.Ser566=) c.1472G= (p.Ser491=) n.2190G= n.2204G= | |
2 | g.43875345G>T | CA346670593 | ABCG8 | c.1688G>T (p.Ser563Ile) c.1685G>T (p.Ser562Ile) c.1700G>T (p.Ser567Ile) c.1697G>T (p.Ser566Ile) c.1472G>T (p.Ser491Ile) n.2190G>T n.2204G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875345_43875346delinsGC | CA2493963701 | ABCG8 | c.1688_1689delinsGC (p.Ser563=) c.1685_1686delinsGC (p.Ser562=) c.1700_1701delinsGC (p.Ser567=) c.1697_1698delinsGC (p.Ser566=) c.1472_1473delinsGC (p.Ser491=) n.2190_2191delinsGC n.2204_2205delinsGC | |
2 | g.43875346del | CA1637589 | ABCG8 | c.1689del (p.Ser563ArgfsTer15) c.1686del (p.Ser562ArgfsTer15) c.1701del (p.Ser567ArgfsTer15) c.1698del (p.Ser566ArgfsTer15) c.1473del (p.Ser491ArgfsTer15) n.2191del n.2205del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875346C>A | CA346670596 | ABCG8 | c.1689C>A (p.Ser563Arg) c.1686C>A (p.Ser562Arg) c.1701C>A (p.Ser567Arg) c.1698C>A (p.Ser566Arg) c.1473C>A (p.Ser491Arg) n.2191C>A n.2205C>A | |
2 | g.43875346C= | CA2493963703 | ABCG8 | c.1689C= (p.Ser563=) c.1686C= (p.Ser562=) c.1701C= (p.Ser567=) c.1698C= (p.Ser566=) c.1473C= (p.Ser491=) n.2191C= n.2205C= | |
2 | g.43875346C>G | CA346670597 | ABCG8 | c.1689C>G (p.Ser563Arg) c.1686C>G (p.Ser562Arg) c.1701C>G (p.Ser567Arg) c.1698C>G (p.Ser566Arg) c.1473C>G (p.Ser491Arg) n.2191C>G n.2205C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875346C>T | CA426116438 | ABCG8 | c.1689C>T (p.Ser563=) c.1686C>T (p.Ser562=) c.1701C>T (p.Ser567=) c.1698C>T (p.Ser566=) c.1473C>T (p.Ser491=) n.2191C>T n.2205C>T | |
2 | g.43875347A= | CA2493963704 | ABCG8 | c.1690A= (p.Asn564=) c.1687A= (p.Asn563=) c.1702A= (p.Asn568=) c.1699A= (p.Asn567=) c.1474A= (p.Asn492=) n.2192A= n.2206A= | |
2 | g.43875347A>C | CA346670598 | ABCG8 | c.1690A>C (p.Asn564His) c.1687A>C (p.Asn563His) c.1702A>C (p.Asn568His) c.1699A>C (p.Asn567His) c.1474A>C (p.Asn492His) n.2192A>C n.2206A>C | |
2 | g.43875347A>G | CA346670599 | ABCG8 | c.1690A>G (p.Asn564Asp) c.1687A>G (p.Asn563Asp) c.1702A>G (p.Asn568Asp) c.1699A>G (p.Asn567Asp) c.1474A>G (p.Asn492Asp) n.2192A>G n.2206A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875347A>T | CA346670600 | ABCG8 | c.1690A>T (p.Asn564Tyr) c.1687A>T (p.Asn563Tyr) c.1702A>T (p.Asn568Tyr) c.1699A>T (p.Asn567Tyr) c.1474A>T (p.Asn492Tyr) n.2192A>T n.2206A>T | |
2 | g.43875348A= | CA2493963705 | ABCG8 | c.1691A= (p.Asn564=) c.1688A= (p.Asn563=) c.1703A= (p.Asn568=) c.1700A= (p.Asn567=) c.1475A= (p.Asn492=) n.2193A= n.2207A= | |
2 | g.43875348A>C | CA1637590 | ABCG8 | c.1691A>C (p.Asn564Thr) c.1688A>C (p.Asn563Thr) c.1703A>C (p.Asn568Thr) c.1700A>C (p.Asn567Thr) c.1475A>C (p.Asn492Thr) n.2193A>C n.2207A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875348A>G | CA1637591 | ABCG8 | c.1691A>G (p.Asn564Ser) c.1688A>G (p.Asn563Ser) c.1703A>G (p.Asn568Ser) c.1700A>G (p.Asn567Ser) c.1475A>G (p.Asn492Ser) n.2193A>G n.2207A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875348A>T | CA346670601 | ABCG8 | c.1691A>T (p.Asn564Ile) c.1688A>T (p.Asn563Ile) c.1703A>T (p.Asn568Ile) c.1700A>T (p.Asn567Ile) c.1475A>T (p.Asn492Ile) n.2193A>T n.2207A>T | ClinVar |
2 | g.43875349T>A | CA346670602 | ABCG8 | c.1692T>A (p.Asn564Lys) c.1689T>A (p.Asn563Lys) c.1704T>A (p.Asn568Lys) c.1701T>A (p.Asn567Lys) c.1476T>A (p.Asn492Lys) n.2194T>A n.2208T>A | |
2 | g.43875349T>C | CA426116439 | ABCG8 | c.1692T>C (p.Asn564=) c.1689T>C (p.Asn563=) c.1704T>C (p.Asn568=) c.1701T>C (p.Asn567=) c.1476T>C (p.Asn492=) n.2194T>C n.2208T>C | gnomAD v4 |
2 | g.43875349T>G | CA346670603 | ABCG8 | c.1692T>G (p.Asn564Lys) c.1689T>G (p.Asn563Lys) c.1704T>G (p.Asn568Lys) c.1701T>G (p.Asn567Lys) c.1476T>G (p.Asn492Lys) n.2194T>G n.2208T>G | |
2 | g.43875350G>A | CA346670606 | ABCG8 | c.1693G>A (p.Ala565Thr) c.1690G>A (p.Ala564Thr) c.1705G>A (p.Ala569Thr) c.1702G>A (p.Ala568Thr) c.1477G>A (p.Ala493Thr) n.2195G>A n.2209G>A | |
2 | g.43875350G>C | CA346670605 | ABCG8 | c.1693G>C (p.Ala565Pro) c.1690G>C (p.Ala564Pro) c.1705G>C (p.Ala569Pro) c.1702G>C (p.Ala568Pro) c.1477G>C (p.Ala493Pro) n.2195G>C n.2209G>C | |
2 | g.43875350G>T | CA346670604 | ABCG8 | c.1693G>T (p.Ala565Ser) c.1690G>T (p.Ala564Ser) c.1705G>T (p.Ala569Ser) c.1702G>T (p.Ala568Ser) c.1477G>T (p.Ala493Ser) n.2195G>T n.2209G>T | |
2 | g.43875351C>A | CA46471369 | ABCG8 | c.1694C>A (p.Ala565Asp) c.1691C>A (p.Ala564Asp) c.1706C>A (p.Ala569Asp) c.1703C>A (p.Ala568Asp) c.1478C>A (p.Ala493Asp) n.2196C>A n.2210C>A | dbSNP gnomAD v4 |
2 | g.43875351C= | CA2493963706 | ABCG8 | c.1694C= (p.Ala565=) c.1691C= (p.Ala564=) c.1706C= (p.Ala569=) c.1703C= (p.Ala568=) c.1478C= (p.Ala493=) n.2196C= n.2210C= | |
2 | g.43875351C>G | CA346670607 | ABCG8 | c.1694C>G (p.Ala565Gly) c.1691C>G (p.Ala564Gly) c.1706C>G (p.Ala569Gly) c.1703C>G (p.Ala568Gly) c.1478C>G (p.Ala493Gly) n.2196C>G n.2210C>G | |
2 | g.43875351C>T | CA346670608 | ABCG8 | c.1694C>T (p.Ala565Val) c.1691C>T (p.Ala564Val) c.1706C>T (p.Ala569Val) c.1703C>T (p.Ala568Val) c.1478C>T (p.Ala493Val) n.2196C>T n.2210C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875352C>A | CA426116440 | ABCG8 | c.1695C>A (p.Ala565=) c.1692C>A (p.Ala564=) c.1707C>A (p.Ala569=) c.1704C>A (p.Ala568=) c.1479C>A (p.Ala493=) n.2197C>A n.2211C>A | dbSNP gnomAD v2 |
2 | g.43875352C= | CA1630834320 | ABCG8 | c.1695C= (p.Ala565=) c.1692C= (p.Ala564=) c.1707C= (p.Ala569=) c.1704C= (p.Ala568=) c.1479C= (p.Ala493=) n.2197C= n.2211C= | |
2 | g.43875352C>G | CA426116441 | ABCG8 | c.1695C>G (p.Ala565=) c.1692C>G (p.Ala564=) c.1707C>G (p.Ala569=) c.1704C>G (p.Ala568=) c.1479C>G (p.Ala493=) n.2197C>G n.2211C>G | |
2 | g.43875352C>T | CA1637592 | ABCG8 | c.1695C>T (p.Ala565=) c.1692C>T (p.Ala564=) c.1707C>T (p.Ala569=) c.1704C>T (p.Ala568=) c.1479C>T (p.Ala493=) n.2197C>T n.2211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875353C>A | CA346670609 | ABCG8 | c.1696C>A (p.Leu566Ile) c.1693C>A (p.Leu565Ile) c.1708C>A (p.Leu570Ile) c.1705C>A (p.Leu569Ile) c.1480C>A (p.Leu494Ile) n.2198C>A n.2212C>A | |
2 | g.43875353C= | CA2493963707 | ABCG8 | c.1696C= (p.Leu566=) c.1693C= (p.Leu565=) c.1708C= (p.Leu570=) c.1705C= (p.Leu569=) c.1480C= (p.Leu494=) n.2198C= n.2212C= | |
2 | g.43875353C>G | CA346670610 | ABCG8 | c.1696C>G (p.Leu566Val) c.1693C>G (p.Leu565Val) c.1708C>G (p.Leu570Val) c.1705C>G (p.Leu569Val) c.1480C>G (p.Leu494Val) n.2198C>G n.2212C>G | dbSNP gnomAD v4 |
2 | g.43875353C>T | CA346670611 | ABCG8 | c.1696C>T (p.Leu566Phe) c.1693C>T (p.Leu565Phe) c.1708C>T (p.Leu570Phe) c.1705C>T (p.Leu569Phe) c.1480C>T (p.Leu494Phe) n.2198C>T n.2212C>T | |
2 | g.43875355_43875356del | CA2658831285 | ABCG8 | c.1698_1699del (p.Tyr567GlnfsTer?) c.1695_1696del (p.Tyr566GlnfsTer?) c.1710_1711del (p.Tyr571GlnfsTer?) c.1707_1708del (p.Tyr570GlnfsTer?) c.1482_1483del (p.Tyr495GlnfsTer?) n.2200_2201del n.2214_2215del | gnomAD v4 |
2 | g.43875354T>A | CA346670612 | ABCG8 | c.1697T>A (p.Leu566His) c.1694T>A (p.Leu565His) c.1709T>A (p.Leu570His) c.1706T>A (p.Leu569His) c.1481T>A (p.Leu494His) n.2199T>A n.2213T>A | |
2 | g.43875354T>C | CA346670613 | ABCG8 | c.1697T>C (p.Leu566Pro) c.1694T>C (p.Leu565Pro) c.1709T>C (p.Leu570Pro) c.1706T>C (p.Leu569Pro) c.1481T>C (p.Leu494Pro) n.2199T>C n.2213T>C | |
2 | g.43875354T>G | CA346670614 | ABCG8 | c.1697T>G (p.Leu566Arg) c.1694T>G (p.Leu565Arg) c.1709T>G (p.Leu570Arg) c.1706T>G (p.Leu569Arg) c.1481T>G (p.Leu494Arg) n.2199T>G n.2213T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875354T= | CA2493963708 | ABCG8 | c.1697T= (p.Leu566=) c.1694T= (p.Leu565=) c.1709T= (p.Leu570=) c.1706T= (p.Leu569=) c.1481T= (p.Leu494=) n.2199T= n.2213T= | |
2 | g.43875355C>A | CA426116444 | ABCG8 | c.1698C>A (p.Leu566=) c.1695C>A (p.Leu565=) c.1710C>A (p.Leu570=) c.1707C>A (p.Leu569=) c.1482C>A (p.Leu494=) n.2200C>A n.2214C>A | |
2 | g.43875355C= | CA2493963709 | ABCG8 | c.1698C= (p.Leu566=) c.1695C= (p.Leu565=) c.1710C= (p.Leu570=) c.1707C= (p.Leu569=) c.1482C= (p.Leu494=) n.2200C= n.2214C= | |
2 | g.43875355C>G | CA426116443 | ABCG8 | c.1698C>G (p.Leu566=) c.1695C>G (p.Leu565=) c.1710C>G (p.Leu570=) c.1707C>G (p.Leu569=) c.1482C>G (p.Leu494=) n.2200C>G n.2214C>G | ClinVar gnomAD v4 |
2 | g.43875355C>T | CA426116442 | ABCG8 | c.1698C>T (p.Leu566=) c.1695C>T (p.Leu565=) c.1710C>T (p.Leu570=) c.1707C>T (p.Leu569=) c.1482C>T (p.Leu494=) n.2200C>T n.2214C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875356T>A | CA346670615 | ABCG8 | c.1699T>A (p.Tyr567Asn) c.1696T>A (p.Tyr566Asn) c.1711T>A (p.Tyr571Asn) c.1708T>A (p.Tyr570Asn) c.1483T>A (p.Tyr495Asn) n.2201T>A n.2215T>A | |
2 | g.43875356T>C | CA346670616 | ABCG8 | c.1699T>C (p.Tyr567His) c.1696T>C (p.Tyr566His) c.1711T>C (p.Tyr571His) c.1708T>C (p.Tyr570His) c.1483T>C (p.Tyr495His) n.2201T>C n.2215T>C | |
2 | g.43875356T>G | CA346670617 | ABCG8 | c.1699T>G (p.Tyr567Asp) c.1696T>G (p.Tyr566Asp) c.1711T>G (p.Tyr571Asp) c.1708T>G (p.Tyr570Asp) c.1483T>G (p.Tyr495Asp) n.2201T>G n.2215T>G | |
2 | g.43875357A= | CA2493963710 | ABCG8 | c.1700A= (p.Tyr567=) c.1697A= (p.Tyr566=) c.1712A= (p.Tyr571=) c.1709A= (p.Tyr570=) c.1484A= (p.Tyr495=) n.2202A= n.2216A= | |
2 | g.43875357A>C | CA46471394 | ABCG8 | c.1700A>C (p.Tyr567Ser) c.1697A>C (p.Tyr566Ser) c.1712A>C (p.Tyr571Ser) c.1709A>C (p.Tyr570Ser) c.1484A>C (p.Tyr495Ser) n.2202A>C n.2216A>C | ClinVar dbSNP gnomAD v4 |
2 | g.43875357A>G | CA1637593 | ABCG8 | c.1700A>G (p.Tyr567Cys) c.1697A>G (p.Tyr566Cys) c.1712A>G (p.Tyr571Cys) c.1709A>G (p.Tyr570Cys) c.1484A>G (p.Tyr495Cys) n.2202A>G n.2216A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875357A>T | CA346670618 | ABCG8 | c.1700A>T (p.Tyr567Phe) c.1697A>T (p.Tyr566Phe) c.1712A>T (p.Tyr571Phe) c.1709A>T (p.Tyr570Phe) c.1484A>T (p.Tyr495Phe) n.2202A>T n.2216A>T | |
2 | g.43875358C>A | CA1637594 | ABCG8 | c.1701C>A (p.Tyr567Ter) c.1698C>A (p.Tyr566Ter) c.1713C>A (p.Tyr571Ter) c.1710C>A (p.Tyr570Ter) c.1485C>A (p.Tyr495Ter) n.2203C>A n.2217C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875358C= | CA2493963711 | ABCG8 | c.1701C= (p.Tyr567=) c.1698C= (p.Tyr566=) c.1713C= (p.Tyr571=) c.1710C= (p.Tyr570=) c.1485C= (p.Tyr495=) n.2203C= n.2217C= | |
2 | g.43875358C>G | CA346670619 | ABCG8 | c.1701C>G (p.Tyr567Ter) c.1698C>G (p.Tyr566Ter) c.1713C>G (p.Tyr571Ter) c.1710C>G (p.Tyr570Ter) c.1485C>G (p.Tyr495Ter) n.2203C>G n.2217C>G | |
2 | g.43875358C>T | CA426116445 | ABCG8 | c.1701C>T (p.Tyr567=) c.1698C>T (p.Tyr566=) c.1713C>T (p.Tyr571=) c.1710C>T (p.Tyr570=) c.1485C>T (p.Tyr495=) n.2203C>T n.2217C>T | |
2 | g.43875359A>C | CA346670620 | ABCG8 | c.1702A>C (p.Asn568His) c.1699A>C (p.Asn567His) c.1714A>C (p.Asn572His) c.1711A>C (p.Asn571His) c.1486A>C (p.Asn496His) n.2204A>C n.2218A>C | gnomAD v4 |
2 | g.43875359A>G | CA346670621 | ABCG8 | c.1702A>G (p.Asn568Asp) c.1699A>G (p.Asn567Asp) c.1714A>G (p.Asn572Asp) c.1711A>G (p.Asn571Asp) c.1486A>G (p.Asn496Asp) n.2204A>G n.2218A>G | gnomAD v4 |
2 | g.43875359A>T | CA346670622 | ABCG8 | c.1702A>T (p.Asn568Tyr) c.1699A>T (p.Asn567Tyr) c.1714A>T (p.Asn572Tyr) c.1711A>T (p.Asn571Tyr) c.1486A>T (p.Asn496Tyr) n.2204A>T n.2218A>T | |
2 | g.43875360A= | CA2493963713 | ABCG8 | c.1703A= (p.Asn568=) c.1700A= (p.Asn567=) c.1715A= (p.Asn572=) c.1712A= (p.Asn571=) c.1487A= (p.Asn496=) n.2205A= n.2219A= | |
2 | g.43875360A>C | CA346670623 | ABCG8 | c.1703A>C (p.Asn568Thr) c.1700A>C (p.Asn567Thr) c.1715A>C (p.Asn572Thr) c.1712A>C (p.Asn571Thr) c.1487A>C (p.Asn496Thr) n.2205A>C n.2219A>C | ClinVar dbSNP |
2 | g.43875360A>G | CA1637595 | ABCG8 | c.1703A>G (p.Asn568Ser) c.1700A>G (p.Asn567Ser) c.1715A>G (p.Asn572Ser) c.1712A>G (p.Asn571Ser) c.1487A>G (p.Asn496Ser) n.2205A>G n.2219A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875360A>T | CA346670624 | ABCG8 | c.1703A>T (p.Asn568Ile) c.1700A>T (p.Asn567Ile) c.1715A>T (p.Asn572Ile) c.1712A>T (p.Asn571Ile) c.1487A>T (p.Asn496Ile) n.2205A>T n.2219A>T | |
2 | g.43875360_43875363delinsACTC | CA2493963712 | ABCG8 | c.1703_1706delinsACTC (p.Asn568=) c.1700_1703delinsACTC (p.Asn567=) c.1715_1718delinsACTC (p.Asn572=) c.1712_1715delinsACTC (p.Asn571=) c.1487_1490delinsACTC (p.Asn496=) n.2205_2208delinsACTC n.2219_2222delinsACTC | |
2 | g.43875361C>A | CA346670625 | ABCG8 | c.1704C>A (p.Asn568Lys) c.1701C>A (p.Asn567Lys) c.1716C>A (p.Asn572Lys) c.1713C>A (p.Asn571Lys) c.1488C>A (p.Asn496Lys) n.2206C>A n.2220C>A | |
2 | g.43875361C= | CA2493963715 | ABCG8 | c.1704C= (p.Asn568=) c.1701C= (p.Asn567=) c.1716C= (p.Asn572=) c.1713C= (p.Asn571=) c.1488C= (p.Asn496=) n.2206C= n.2220C= | |
2 | g.43875361C>G | CA346670626 | ABCG8 | c.1704C>G (p.Asn568Lys) c.1701C>G (p.Asn567Lys) c.1716C>G (p.Asn572Lys) c.1713C>G (p.Asn571Lys) c.1488C>G (p.Asn496Lys) n.2206C>G n.2220C>G | |
2 | g.43875361C>T | CA426116446 | ABCG8 | c.1704C>T (p.Asn568=) c.1701C>T (p.Asn567=) c.1716C>T (p.Asn572=) c.1713C>T (p.Asn571=) c.1488C>T (p.Asn496=) n.2206C>T n.2220C>T | dbSNP |
2 | g.43875361_43875362delinsCT | CA2493963714 | ABCG8 | c.1704_1705delinsCT (p.Asn568=) c.1701_1702delinsCT (p.Asn567=) c.1716_1717delinsCT (p.Asn572=) c.1713_1714delinsCT (p.Asn571=) c.1488_1489delinsCT (p.Asn496=) n.2206_2207delinsCT n.2220_2221delinsCT | |
2 | g.43875363_43875365del | CA1637596 | ABCG8 | c.1706_1708del (p.Ser569del) c.1703_1705del (p.Ser568del) c.1718_1720del (p.Ser573del) c.1715_1717del (p.Ser572del) c.1490_1492del (p.Ser497del) n.2208_2210del n.2222_2224del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875362del | CA1637597 | ABCG8 | c.1705del (p.Ser569ProfsTer9) c.1702del (p.Ser568ProfsTer9) c.1717del (p.Ser573ProfsTer9) c.1714del (p.Ser572ProfsTer9) c.1489del (p.Ser497ProfsTer9) n.2207del n.2221del | dbSNP ExAC gnomAD v2 |
2 | g.43875362T>A | CA346670627 | ABCG8 | c.1705T>A (p.Ser569Thr) c.1702T>A (p.Ser568Thr) c.1717T>A (p.Ser573Thr) c.1714T>A (p.Ser572Thr) c.1489T>A (p.Ser497Thr) n.2207T>A n.2221T>A | |
2 | g.43875362T>C | CA1637598 | ABCG8 | c.1705T>C (p.Ser569Pro) c.1702T>C (p.Ser568Pro) c.1717T>C (p.Ser573Pro) c.1714T>C (p.Ser572Pro) c.1489T>C (p.Ser497Pro) n.2207T>C n.2221T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875362T>G | CA346670628 | ABCG8 | c.1705T>G (p.Ser569Ala) c.1702T>G (p.Ser568Ala) c.1717T>G (p.Ser573Ala) c.1714T>G (p.Ser572Ala) c.1489T>G (p.Ser497Ala) n.2207T>G n.2221T>G | |
2 | g.43875362T= | CA2493963716 | ABCG8 | c.1705T= (p.Ser569=) c.1702T= (p.Ser568=) c.1717T= (p.Ser573=) c.1714T= (p.Ser572=) c.1489T= (p.Ser497=) n.2207T= n.2221T= | |
2 | g.43875363C>A | CA346670631 | ABCG8 | c.1706C>A (p.Ser569Tyr) c.1703C>A (p.Ser568Tyr) c.1718C>A (p.Ser573Tyr) c.1715C>A (p.Ser572Tyr) c.1490C>A (p.Ser497Tyr) n.2208C>A n.2222C>A | |
2 | g.43875363C>G | CA346670629 | ABCG8 | c.1706C>G (p.Ser569Cys) c.1703C>G (p.Ser568Cys) c.1718C>G (p.Ser573Cys) c.1715C>G (p.Ser572Cys) c.1490C>G (p.Ser497Cys) n.2208C>G n.2222C>G | |
2 | g.43875363C>T | CA346670630 | ABCG8 | c.1706C>T (p.Ser569Phe) c.1703C>T (p.Ser568Phe) c.1718C>T (p.Ser573Phe) c.1715C>T (p.Ser572Phe) c.1490C>T (p.Ser497Phe) n.2208C>T n.2222C>T | |
2 | g.43875363_43875366delinsCCTT | CA2493963717 | ABCG8 | c.1706_1709delinsCCTT (p.Ser569=) c.1703_1706delinsCCTT (p.Ser568=) c.1718_1721delinsCCTT (p.Ser573=) c.1715_1718delinsCCTT (p.Ser572=) c.1490_1493delinsCCTT (p.Ser497=) n.2208_2211delinsCCTT n.2222_2225delinsCCTT | |
2 | g.43875364C>A | CA426116450 | ABCG8 | c.1707C>A (p.Ser569=) c.1704C>A (p.Ser568=) c.1719C>A (p.Ser573=) c.1716C>A (p.Ser572=) c.1491C>A (p.Ser497=) n.2209C>A n.2223C>A | gnomAD v4 |
2 | g.43875364C= | CA2493963718 | ABCG8 | c.1707C= (p.Ser569=) c.1704C= (p.Ser568=) c.1719C= (p.Ser573=) c.1716C= (p.Ser572=) c.1491C= (p.Ser497=) n.2209C= n.2223C= | |
2 | g.43875364C>G | CA426116449 | ABCG8 | c.1707C>G (p.Ser569=) c.1704C>G (p.Ser568=) c.1719C>G (p.Ser573=) c.1716C>G (p.Ser572=) c.1491C>G (p.Ser497=) n.2209C>G n.2223C>G | |
2 | g.43875364C>T | CA426116448 | ABCG8 | c.1707C>T (p.Ser569=) c.1704C>T (p.Ser568=) c.1719C>T (p.Ser573=) c.1716C>T (p.Ser572=) c.1491C>T (p.Ser497=) n.2209C>T n.2223C>T | dbSNP gnomAD v4 |
2 | g.43875366_43875368del | CA1637599 | ABCG8 | c.1709_1711del (p.Phe570del) c.1706_1708del (p.Phe569del) c.1721_1723del (p.Phe574del) c.1718_1720del (p.Phe573del) c.1493_1495del (p.Phe498del) n.2211_2213del n.2225_2227del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.43875365T>A | CA346670632 | ABCG8 | c.1708T>A (p.Phe570Ile) c.1705T>A (p.Phe569Ile) c.1720T>A (p.Phe574Ile) c.1717T>A (p.Phe573Ile) c.1492T>A (p.Phe498Ile) n.2210T>A n.2224T>A | |
2 | g.43875365T>C | CA346670633 | ABCG8 | c.1708T>C (p.Phe570Leu) c.1705T>C (p.Phe569Leu) c.1720T>C (p.Phe574Leu) c.1717T>C (p.Phe573Leu) c.1492T>C (p.Phe498Leu) n.2210T>C n.2224T>C | |
2 | g.43875365T>G | CA346670634 | ABCG8 | c.1708T>G (p.Phe570Val) c.1705T>G (p.Phe569Val) c.1720T>G (p.Phe574Val) c.1717T>G (p.Phe573Val) c.1492T>G (p.Phe498Val) n.2210T>G n.2224T>G | |
2 | g.43875366T>A | CA346670635 | ABCG8 | c.1709T>A (p.Phe570Tyr) c.1706T>A (p.Phe569Tyr) c.1721T>A (p.Phe574Tyr) c.1718T>A (p.Phe573Tyr) c.1493T>A (p.Phe498Tyr) n.2211T>A n.2225T>A | |
2 | g.43875366T>C | CA346670636 | ABCG8 | c.1709T>C (p.Phe570Ser) c.1706T>C (p.Phe569Ser) c.1721T>C (p.Phe574Ser) c.1718T>C (p.Phe573Ser) c.1493T>C (p.Phe498Ser) n.2211T>C n.2225T>C | |
2 | g.43875366T>G | CA346670637 | ABCG8 | c.1709T>G (p.Phe570Cys) c.1706T>G (p.Phe569Cys) c.1721T>G (p.Phe574Cys) c.1718T>G (p.Phe573Cys) c.1493T>G (p.Phe498Cys) n.2211T>G n.2225T>G | gnomAD v4 |
2 | g.43875367C>A | CA346670638 | ABCG8 | c.1710C>A (p.Phe570Leu) c.1707C>A (p.Phe569Leu) c.1722C>A (p.Phe574Leu) c.1719C>A (p.Phe573Leu) c.1494C>A (p.Phe498Leu) n.2212C>A n.2226C>A | |
2 | g.43875367C= | CA2493963719 | ABCG8 | c.1710C= (p.Phe570=) c.1707C= (p.Phe569=) c.1722C= (p.Phe574=) c.1719C= (p.Phe573=) c.1494C= (p.Phe498=) n.2212C= n.2226C= | |
2 | g.43875367C>G | CA346670639 | ABCG8 | c.1710C>G (p.Phe570Leu) c.1707C>G (p.Phe569Leu) c.1722C>G (p.Phe574Leu) c.1719C>G (p.Phe573Leu) c.1494C>G (p.Phe498Leu) n.2212C>G n.2226C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875367C>T | CA426116451 | ABCG8 | c.1710C>T (p.Phe570=) c.1707C>T (p.Phe569=) c.1722C>T (p.Phe574=) c.1719C>T (p.Phe573=) c.1494C>T (p.Phe498=) n.2212C>T n.2226C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875368T>A | CA346670640 | ABCG8 | c.1711T>A (p.Tyr571Asn) c.1708T>A (p.Tyr570Asn) c.1723T>A (p.Tyr575Asn) c.1720T>A (p.Tyr574Asn) c.1495T>A (p.Tyr499Asn) n.2213T>A n.2227T>A | |
2 | g.43875368T>C | CA346670641 | ABCG8 | c.1711T>C (p.Tyr571His) c.1708T>C (p.Tyr570His) c.1723T>C (p.Tyr575His) c.1720T>C (p.Tyr574His) c.1495T>C (p.Tyr499His) n.2213T>C n.2227T>C | |
2 | g.43875368T>G | CA346670642 | ABCG8 | c.1711T>G (p.Tyr571Asp) c.1708T>G (p.Tyr570Asp) c.1723T>G (p.Tyr575Asp) c.1720T>G (p.Tyr574Asp) c.1495T>G (p.Tyr499Asp) n.2213T>G n.2227T>G | |
2 | g.43875369A= | CA2493963720 | ABCG8 | c.1712A= (p.Tyr571=) c.1709A= (p.Tyr570=) c.1724A= (p.Tyr575=) c.1721A= (p.Tyr574=) c.1496A= (p.Tyr499=) n.2214A= n.2228A= | |
2 | g.43875369A>C | CA346670643 | ABCG8 | c.1712A>C (p.Tyr571Ser) c.1709A>C (p.Tyr570Ser) c.1724A>C (p.Tyr575Ser) c.1721A>C (p.Tyr574Ser) c.1496A>C (p.Tyr499Ser) n.2214A>C n.2228A>C | dbSNP |
2 | g.43875369A>G | CA346670645 | ABCG8 | c.1712A>G (p.Tyr571Cys) c.1709A>G (p.Tyr570Cys) c.1724A>G (p.Tyr575Cys) c.1721A>G (p.Tyr574Cys) c.1496A>G (p.Tyr499Cys) n.2214A>G n.2228A>G | |
2 | g.43875369A>T | CA346670644 | ABCG8 | c.1712A>T (p.Tyr571Phe) c.1709A>T (p.Tyr570Phe) c.1724A>T (p.Tyr575Phe) c.1721A>T (p.Tyr574Phe) c.1496A>T (p.Tyr499Phe) n.2214A>T n.2228A>T | |
2 | g.43875370C>A | CA346670646 | ABCG8 | c.1713C>A (p.Tyr571Ter) c.1710C>A (p.Tyr570Ter) c.1725C>A (p.Tyr575Ter) c.1722C>A (p.Tyr574Ter) c.1497C>A (p.Tyr499Ter) n.2215C>A n.2229C>A | |
2 | g.43875370C= | CA2493963721 | ABCG8 | c.1713C= (p.Tyr571=) c.1710C= (p.Tyr570=) c.1725C= (p.Tyr575=) c.1722C= (p.Tyr574=) c.1497C= (p.Tyr499=) n.2215C= n.2229C= | |
2 | g.43875370C>G | CA346670647 | ABCG8 | c.1713C>G (p.Tyr571Ter) c.1710C>G (p.Tyr570Ter) c.1725C>G (p.Tyr575Ter) c.1722C>G (p.Tyr574Ter) c.1497C>G (p.Tyr499Ter) n.2215C>G n.2229C>G | |
2 | g.43875370C>T | CA1637600 | ABCG8 | c.1713C>T (p.Tyr571=) c.1710C>T (p.Tyr570=) c.1725C>T (p.Tyr575=) c.1722C>T (p.Tyr574=) c.1497C>T (p.Tyr499=) n.2215C>T n.2229C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875371C>A | CA346670648 | ABCG8 | c.1714C>A (p.Leu572Ile) c.1711C>A (p.Leu571Ile) c.1726C>A (p.Leu576Ile) c.1723C>A (p.Leu575Ile) c.1498C>A (p.Leu500Ile) n.2216C>A n.2230C>A | |
2 | g.43875371C>G | CA346670649 | ABCG8 | c.1714C>G (p.Leu572Val) c.1711C>G (p.Leu571Val) c.1726C>G (p.Leu576Val) c.1723C>G (p.Leu575Val) c.1498C>G (p.Leu500Val) n.2216C>G n.2230C>G | |
2 | g.43875371C>T | CA346670650 | ABCG8 | c.1714C>T (p.Leu572Phe) c.1711C>T (p.Leu571Phe) c.1726C>T (p.Leu576Phe) c.1723C>T (p.Leu575Phe) c.1498C>T (p.Leu500Phe) n.2216C>T n.2230C>T | |
2 | g.43875372T>A | CA346670651 | ABCG8 | c.1715T>A (p.Leu572His) c.1712T>A (p.Leu571His) c.1727T>A (p.Leu576His) c.1724T>A (p.Leu575His) c.1499T>A (p.Leu500His) n.2217T>A n.2231T>A | |
2 | g.43875372T>C | CA1637601 | ABCG8 | c.1715T>C (p.Leu572Pro) c.1712T>C (p.Leu571Pro) c.1727T>C (p.Leu576Pro) c.1724T>C (p.Leu575Pro) c.1499T>C (p.Leu500Pro) n.2217T>C n.2231T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875372T>G | CA346670652 | ABCG8 | c.1715T>G (p.Leu572Arg) c.1712T>G (p.Leu571Arg) c.1727T>G (p.Leu576Arg) c.1724T>G (p.Leu575Arg) c.1499T>G (p.Leu500Arg) n.2217T>G n.2231T>G | |
2 | g.43875372T= | CA2493963722 | ABCG8 | c.1715T= (p.Leu572=) c.1712T= (p.Leu571=) c.1727T= (p.Leu576=) c.1724T= (p.Leu575=) c.1499T= (p.Leu500=) n.2217T= n.2231T= | |
2 | g.43875373C>A | CA426116453 | ABCG8 | c.1716C>A (p.Leu572=) c.1713C>A (p.Leu571=) c.1728C>A (p.Leu576=) c.1725C>A (p.Leu575=) c.1500C>A (p.Leu500=) n.2218C>A n.2232C>A | gnomAD v4 |
2 | g.43875373C= | CA2493963723 | ABCG8 | c.1716C= (p.Leu572=) c.1713C= (p.Leu571=) c.1728C= (p.Leu576=) c.1725C= (p.Leu575=) c.1500C= (p.Leu500=) n.2218C= n.2232C= | |
2 | g.43875373C>G | CA426116454 | ABCG8 | c.1716C>G (p.Leu572=) c.1713C>G (p.Leu571=) c.1728C>G (p.Leu576=) c.1725C>G (p.Leu575=) c.1500C>G (p.Leu500=) n.2218C>G n.2232C>G | |
2 | g.43875373C>T | CA1637602 | ABCG8 | c.1716C>T (p.Leu572=) c.1713C>T (p.Leu571=) c.1728C>T (p.Leu576=) c.1725C>T (p.Leu575=) c.1500C>T (p.Leu500=) n.2218C>T n.2232C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875374G>A | CA1637603 | ABCG8 | c.1717G>A (p.Ala573Thr) c.1714G>A (p.Ala572Thr) c.1729G>A (p.Ala577Thr) c.1726G>A (p.Ala576Thr) c.1501G>A (p.Ala501Thr) n.2219G>A n.2233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875374G>C | CA346670653 | ABCG8 | c.1717G>C (p.Ala573Pro) c.1714G>C (p.Ala572Pro) c.1729G>C (p.Ala577Pro) c.1726G>C (p.Ala576Pro) c.1501G>C (p.Ala501Pro) n.2219G>C n.2233G>C | |
2 | g.43875374G= | CA2493963724 | ABCG8 | c.1717G= (p.Ala573=) c.1714G= (p.Ala572=) c.1729G= (p.Ala577=) c.1726G= (p.Ala576=) c.1501G= (p.Ala501=) n.2219G= n.2233G= | |
2 | g.43875374G>T | CA346670654 | ABCG8 | c.1717G>T (p.Ala573Ser) c.1714G>T (p.Ala572Ser) c.1729G>T (p.Ala577Ser) c.1726G>T (p.Ala576Ser) c.1501G>T (p.Ala501Ser) n.2219G>T n.2233G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875375C>A | CA346670655 | ABCG8 | c.1718C>A (p.Ala573Asp) c.1715C>A (p.Ala572Asp) c.1730C>A (p.Ala577Asp) c.1727C>A (p.Ala576Asp) c.1502C>A (p.Ala501Asp) n.2220C>A n.2234C>A | |
2 | g.43875375C= | CA2493963725 | ABCG8 | c.1718C= (p.Ala573=) c.1715C= (p.Ala572=) c.1730C= (p.Ala577=) c.1727C= (p.Ala576=) c.1502C= (p.Ala501=) n.2220C= n.2234C= | |
2 | g.43875375C>G | CA346670657 | ABCG8 | c.1718C>G (p.Ala573Gly) c.1715C>G (p.Ala572Gly) c.1730C>G (p.Ala577Gly) c.1727C>G (p.Ala576Gly) c.1502C>G (p.Ala501Gly) n.2220C>G n.2234C>G | |
2 | g.43875375C>T | CA346670656 | ABCG8 | c.1718C>T (p.Ala573Val) c.1715C>T (p.Ala572Val) c.1730C>T (p.Ala577Val) c.1727C>T (p.Ala576Val) c.1502C>T (p.Ala501Val) n.2220C>T n.2234C>T | dbSNP gnomAD v4 |
2 | g.43875376C>A | CA46471475 | ABCG8 | c.1719C>A (p.Ala573=) c.1716C>A (p.Ala572=) c.1731C>A (p.Ala577=) c.1728C>A (p.Ala576=) c.1503C>A (p.Ala501=) n.2221C>A n.2235C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43875376C= | CA2493963726 | ABCG8 | c.1719C= (p.Ala573=) c.1716C= (p.Ala572=) c.1731C= (p.Ala577=) c.1728C= (p.Ala576=) c.1503C= (p.Ala501=) n.2221C= n.2235C= | |
2 | g.43875376C>G | CA426116455 | ABCG8 | c.1719C>G (p.Ala573=) c.1716C>G (p.Ala572=) c.1731C>G (p.Ala577=) c.1728C>G (p.Ala576=) c.1503C>G (p.Ala501=) n.2221C>G n.2235C>G | |
2 | g.43875376C>T | CA1637604 | ABCG8 | c.1719C>T (p.Ala573=) c.1716C>T (p.Ala572=) c.1731C>T (p.Ala577=) c.1728C>T (p.Ala576=) c.1503C>T (p.Ala501=) n.2221C>T n.2235C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875376_43875377delinsCG | CA2493963727 | ABCG8 | c.1719_1720delinsCG (p.Ala573=) c.1716_1717delinsCG (p.Ala572=) c.1731_1732delinsCG (p.Ala577=) c.1728_1729delinsCG (p.Ala576=) c.1503_1504delinsCG (p.Ala501=) n.2221_2222delinsCG n.2235_2236delinsCG | |
2 | g.43875377G>A | CA253361 | ABCG8 | c.1720G>A (p.Gly574Arg) c.1717G>A (p.Gly573Arg) c.1732G>A (p.Gly578Arg) c.1729G>A (p.Gly577Arg) c.1504G>A (p.Gly502Arg) n.2222G>A n.2236G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875377G>C | CA346670658 | ABCG8 | c.1720G>C (p.Gly574Arg) c.1717G>C (p.Gly573Arg) c.1732G>C (p.Gly578Arg) c.1729G>C (p.Gly577Arg) c.1504G>C (p.Gly502Arg) n.2222G>C n.2236G>C | |
2 | g.43875377G= | CA2493963728 | ABCG8 | c.1720G= (p.Gly574=) c.1717G= (p.Gly573=) c.1732G= (p.Gly578=) c.1729G= (p.Gly577=) c.1504G= (p.Gly502=) n.2222G= n.2236G= | |
2 | g.43875377G>T | CA346670659 | ABCG8 | c.1720G>T (p.Gly574Trp) c.1717G>T (p.Gly573Trp) c.1732G>T (p.Gly578Trp) c.1729G>T (p.Gly577Trp) c.1504G>T (p.Gly502Trp) n.2222G>T n.2236G>T | gnomAD v4 |
2 | g.43875381del | CA1637605 | ABCG8 | c.1724del (p.Gly575AlafsTer3) c.1721del (p.Gly574AlafsTer3) c.1736del (p.Gly579AlafsTer3) c.1733del (p.Gly578AlafsTer3) c.1508del (p.Gly503AlafsTer3) n.2226del n.2240del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43875378G>A | CA346670660 | ABCG8 | c.1721G>A (p.Gly574Glu) c.1718G>A (p.Gly573Glu) c.1733G>A (p.Gly578Glu) c.1730G>A (p.Gly577Glu) c.1505G>A (p.Gly502Glu) n.2223G>A n.2237G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.43875378G>C | CA346670661 | ABCG8 | c.1721G>C (p.Gly574Ala) c.1718G>C (p.Gly573Ala) c.1733G>C (p.Gly578Ala) c.1730G>C (p.Gly577Ala) c.1505G>C (p.Gly502Ala) n.2223G>C n.2237G>C | |
2 | g.43875378G= | CA2493963729 | ABCG8 | c.1721G= (p.Gly574=) c.1718G= (p.Gly573=) c.1733G= (p.Gly578=) c.1730G= (p.Gly577=) c.1505G= (p.Gly502=) n.2223G= n.2237G= | |
2 | g.43875378G>T | CA346670662 | ABCG8 | c.1721G>T (p.Gly574Val) c.1718G>T (p.Gly573Val) c.1733G>T (p.Gly578Val) c.1730G>T (p.Gly577Val) c.1505G>T (p.Gly502Val) n.2223G>T n.2237G>T | |
2 | g.43875379G>A | CA426116458 | ABCG8 | c.1722G>A (p.Gly574=) c.1719G>A (p.Gly573=) c.1734G>A (p.Gly578=) c.1731G>A (p.Gly577=) c.1506G>A (p.Gly502=) n.2224G>A n.2238G>A | dbSNP COSMIC |
2 | g.43875379G>C | CA426116457 | ABCG8 | c.1722G>C (p.Gly574=) c.1719G>C (p.Gly573=) c.1734G>C (p.Gly578=) c.1731G>C (p.Gly577=) c.1506G>C (p.Gly502=) n.2224G>C n.2238G>C | |
2 | g.43875379G= | CA2493963730 | ABCG8 | c.1722G= (p.Gly574=) c.1719G= (p.Gly573=) c.1734G= (p.Gly578=) c.1731G= (p.Gly577=) c.1506G= (p.Gly502=) n.2224G= n.2238G= | |
2 | g.43875379G>T | CA426116456 | ABCG8 | c.1722G>T (p.Gly574=) c.1719G>T (p.Gly573=) c.1734G>T (p.Gly578=) c.1731G>T (p.Gly577=) c.1506G>T (p.Gly502=) n.2224G>T n.2238G>T | dbSNP |
2 | g.43875380G>A | CA346670663 | ABCG8 | c.1723G>A (p.Gly575Ser) c.1720G>A (p.Gly574Ser) c.1735G>A (p.Gly579Ser) c.1732G>A (p.Gly578Ser) c.1507G>A (p.Gly503Ser) n.2225G>A n.2239G>A | gnomAD v4 |
2 | g.43875380G>C | CA346670664 | ABCG8 | c.1723G>C (p.Gly575Arg) c.1720G>C (p.Gly574Arg) c.1735G>C (p.Gly579Arg) c.1732G>C (p.Gly578Arg) c.1507G>C (p.Gly503Arg) n.2225G>C n.2239G>C | gnomAD v4 |
2 | g.43875380G= | CA2493963731 | ABCG8 | c.1723G= (p.Gly575=) c.1720G= (p.Gly574=) c.1735G= (p.Gly579=) c.1732G= (p.Gly578=) c.1507G= (p.Gly503=) n.2225G= n.2239G= | |
2 | g.43875380G>T | CA346670665 | ABCG8 | c.1723G>T (p.Gly575Cys) c.1720G>T (p.Gly574Cys) c.1735G>T (p.Gly579Cys) c.1732G>T (p.Gly578Cys) c.1507G>T (p.Gly503Cys) n.2225G>T n.2239G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875381G>A | CA1637606 | ABCG8 | c.1724G>A (p.Gly575Asp) c.1721G>A (p.Gly574Asp) c.1736G>A (p.Gly579Asp) c.1733G>A (p.Gly578Asp) c.1508G>A (p.Gly503Asp) n.2226G>A n.2240G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875381G>C | CA346670667 | ABCG8 | c.1724G>C (p.Gly575Ala) c.1721G>C (p.Gly574Ala) c.1736G>C (p.Gly579Ala) c.1733G>C (p.Gly578Ala) c.1508G>C (p.Gly503Ala) n.2226G>C n.2240G>C | |
2 | g.43875381G= | CA2493963732 | ABCG8 | c.1724G= (p.Gly575=) c.1721G= (p.Gly574=) c.1736G= (p.Gly579=) c.1733G= (p.Gly578=) c.1508G= (p.Gly503=) n.2226G= n.2240G= | |
2 | g.43875381G>T | CA346670666 | ABCG8 | c.1724G>T (p.Gly575Val) c.1721G>T (p.Gly574Val) c.1736G>T (p.Gly579Val) c.1733G>T (p.Gly578Val) c.1508G>T (p.Gly503Val) n.2226G>T n.2240G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875382del | CA2576953902 | ABCG8 | c.1725del (p.Phe576SerfsTer2) c.1722del (p.Phe575SerfsTer2) c.1737del (p.Phe580SerfsTer2) c.1734del (p.Phe579SerfsTer2) c.1509del (p.Phe504SerfsTer2) n.2227del n.2241del | gnomAD v4 |
2 | g.43875382C>A | CA426116459 | ABCG8 | c.1725C>A (p.Gly575=) c.1722C>A (p.Gly574=) c.1737C>A (p.Gly579=) c.1734C>A (p.Gly578=) c.1509C>A (p.Gly503=) n.2227C>A n.2241C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875382C= | CA2493963733 | ABCG8 | c.1725C= (p.Gly575=) c.1722C= (p.Gly574=) c.1737C= (p.Gly579=) c.1734C= (p.Gly578=) c.1509C= (p.Gly503=) n.2227C= n.2241C= | |
2 | g.43875382C>G | CA426116461 | ABCG8 | c.1725C>G (p.Gly575=) c.1722C>G (p.Gly574=) c.1737C>G (p.Gly579=) c.1734C>G (p.Gly578=) c.1509C>G (p.Gly503=) n.2227C>G n.2241C>G | |
2 | g.43875382C>T | CA426116460 | ABCG8 | c.1725C>T (p.Gly575=) c.1722C>T (p.Gly574=) c.1737C>T (p.Gly579=) c.1734C>T (p.Gly578=) c.1509C>T (p.Gly503=) n.2227C>T n.2241C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875383T>A | CA346670670 | ABCG8 | c.1726T>A (p.Phe576Ile) c.1723T>A (p.Phe575Ile) c.1738T>A (p.Phe580Ile) c.1735T>A (p.Phe579Ile) c.1510T>A (p.Phe504Ile) n.2228T>A n.2242T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875383T>C | CA346670668 | ABCG8 | c.1726T>C (p.Phe576Leu) c.1723T>C (p.Phe575Leu) c.1738T>C (p.Phe580Leu) c.1735T>C (p.Phe579Leu) c.1510T>C (p.Phe504Leu) n.2228T>C n.2242T>C | dbSNP |
2 | g.43875383T>G | CA346670669 | ABCG8 | c.1726T>G (p.Phe576Val) c.1723T>G (p.Phe575Val) c.1738T>G (p.Phe580Val) c.1735T>G (p.Phe579Val) c.1510T>G (p.Phe504Val) n.2228T>G n.2242T>G | |
2 | g.43875383T= | CA2493963734 | ABCG8 | c.1726T= (p.Phe576=) c.1723T= (p.Phe575=) c.1738T= (p.Phe580=) c.1735T= (p.Phe579=) c.1510T= (p.Phe504=) n.2228T= n.2242T= | |
2 | g.43875384T>A | CA346670671 | ABCG8 | c.1727T>A (p.Phe576Tyr) c.1724T>A (p.Phe575Tyr) c.1739T>A (p.Phe580Tyr) c.1736T>A (p.Phe579Tyr) c.1511T>A (p.Phe504Tyr) n.2229T>A n.2243T>A | |
2 | g.43875384T>C | CA346670672 | ABCG8 | c.1727T>C (p.Phe576Ser) c.1724T>C (p.Phe575Ser) c.1739T>C (p.Phe580Ser) c.1736T>C (p.Phe579Ser) c.1511T>C (p.Phe504Ser) n.2229T>C n.2243T>C | |
2 | g.43875384T>G | CA346670673 | ABCG8 | c.1727T>G (p.Phe576Cys) c.1724T>G (p.Phe575Cys) c.1739T>G (p.Phe580Cys) c.1736T>G (p.Phe579Cys) c.1511T>G (p.Phe504Cys) n.2229T>G n.2243T>G | |
2 | g.43875384_43875385insGCT | CA916523622 | ABCG8 | c.1727_1728insGCT (p.Phe576delinsLeuLeu) c.1724_1725insGCT (p.Phe575delinsLeuLeu) c.1739_1740insGCT (p.Phe580delinsLeuLeu) c.1736_1737insGCT (p.Phe579delinsLeuLeu) c.1511_1512insGCT (p.Phe504delinsLeuLeu) n.2229_2230insGCT n.2243_2244insGCT | dbSNP |
2 | g.43875385C>A | CA346670674 | ABCG8 | c.1728C>A (p.Phe576Leu) c.1725C>A (p.Phe575Leu) c.1740C>A (p.Phe580Leu) c.1737C>A (p.Phe579Leu) c.1512C>A (p.Phe504Leu) n.2230C>A n.2244C>A | |
2 | g.43875385C= | CA2493963735 | ABCG8 | c.1728C= (p.Phe576=) c.1725C= (p.Phe575=) c.1740C= (p.Phe580=) c.1737C= (p.Phe579=) c.1512C= (p.Phe504=) n.2230C= n.2244C= | |
2 | g.43875385C>G | CA346670675 | ABCG8 | c.1728C>G (p.Phe576Leu) c.1725C>G (p.Phe575Leu) c.1740C>G (p.Phe580Leu) c.1737C>G (p.Phe579Leu) c.1512C>G (p.Phe504Leu) n.2230C>G n.2244C>G | |
2 | g.43875385C>T | CA426116462 | ABCG8 | c.1728C>T (p.Phe576=) c.1725C>T (p.Phe575=) c.1740C>T (p.Phe580=) c.1737C>T (p.Phe579=) c.1512C>T (p.Phe504=) n.2230C>T n.2244C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43875386A= | CA2493963736 | ABCG8 | c.1729A= (p.Met577=) c.1726A= (p.Met576=) c.1741A= (p.Met581=) c.1738A= (p.Met580=) c.1513A= (p.Met505=) n.2231A= n.2245A= | |
2 | g.43875386A>C | CA346670676 | ABCG8 | c.1729A>C (p.Met577Leu) c.1726A>C (p.Met576Leu) c.1741A>C (p.Met581Leu) c.1738A>C (p.Met580Leu) c.1513A>C (p.Met505Leu) n.2231A>C n.2245A>C | |
2 | g.43875386A>G | CA1637607 | ABCG8 | c.1729A>G (p.Met577Val) c.1726A>G (p.Met576Val) c.1741A>G (p.Met581Val) c.1738A>G (p.Met580Val) c.1513A>G (p.Met505Val) n.2231A>G n.2245A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43875386A>T | CA346670677 | ABCG8 | c.1729A>T (p.Met577Leu) c.1726A>T (p.Met576Leu) c.1741A>T (p.Met581Leu) c.1738A>T (p.Met580Leu) c.1513A>T (p.Met505Leu) n.2231A>T n.2245A>T | |
2 | g.43875387T>A | CA346670678 | ABCG8 | c.1730T>A (p.Met577Lys) c.1727T>A (p.Met576Lys) c.1742T>A (p.Met581Lys) c.1739T>A (p.Met580Lys) c.1514T>A (p.Met505Lys) n.2232T>A n.2246T>A | dbSNP |
2 | g.43875387T>C | CA346670679 | ABCG8 | c.1730T>C (p.Met577Thr) c.1727T>C (p.Met576Thr) c.1742T>C (p.Met581Thr) c.1739T>C (p.Met580Thr) c.1514T>C (p.Met505Thr) n.2232T>C n.2246T>C | gnomAD v4 |
2 | g.43875387T>G | CA346670680 | ABCG8 | c.1730T>G (p.Met577Arg) c.1727T>G (p.Met576Arg) c.1742T>G (p.Met581Arg) c.1739T>G (p.Met580Arg) c.1514T>G (p.Met505Arg) n.2232T>G n.2246T>G | |
2 | g.43875387T= | CA2493963737 | ABCG8 | c.1730T= (p.Met577=) c.1727T= (p.Met576=) c.1742T= (p.Met581=) c.1739T= (p.Met580=) c.1514T= (p.Met505=) n.2232T= n.2246T= | |
2 | g.43875388G>A | CA346670683 | ABCG8 | c.1731G>A (p.Met577Ile) c.1728G>A (p.Met576Ile) c.1743G>A (p.Met581Ile) c.1740G>A (p.Met580Ile) c.1515G>A (p.Met505Ile) n.2233G>A n.2247G>A | gnomAD v4 |
2 | g.43875388G>C | CA346670681 | ABCG8 | c.1731G>C (p.Met577Ile) c.1728G>C (p.Met576Ile) c.1743G>C (p.Met581Ile) c.1740G>C (p.Met580Ile) c.1515G>C (p.Met505Ile) n.2233G>C n.2247G>C | |
2 | g.43875388G>T | CA346670682 | ABCG8 | c.1731G>T (p.Met577Ile) c.1728G>T (p.Met576Ile) c.1743G>T (p.Met581Ile) c.1740G>T (p.Met580Ile) c.1515G>T (p.Met505Ile) n.2233G>T n.2247G>T | |
2 | g.43875389A>C | CA346670684 | ABCG8 | c.1732A>C (p.Ile578Leu) c.1729A>C (p.Ile577Leu) c.1744A>C (p.Ile582Leu) c.1741A>C (p.Ile581Leu) c.1516A>C (p.Ile506Leu) n.2234A>C n.2248A>C | |
2 | g.43875389A>G | CA346670685 | ABCG8 | c.1732A>G (p.Ile578Val) c.1729A>G (p.Ile577Val) c.1744A>G (p.Ile582Val) c.1741A>G (p.Ile581Val) c.1516A>G (p.Ile506Val) n.2234A>G n.2248A>G | |
2 | g.43875389A>T | CA346670686 | ABCG8 | c.1732A>T (p.Ile578Leu) c.1729A>T (p.Ile577Leu) c.1744A>T (p.Ile582Leu) c.1741A>T (p.Ile581Leu) c.1516A>T (p.Ile506Leu) n.2234A>T n.2248A>T | |
2 | g.43875390T>A | CA346670687 | ABCG8 | c.1733T>A (p.Ile578Lys) c.1730T>A (p.Ile577Lys) c.1745T>A (p.Ile582Lys) c.1742T>A (p.Ile581Lys) c.1517T>A (p.Ile506Lys) n.2235T>A n.2249T>A | |
2 | g.43875390T>C | CA346670688 | ABCG8 | c.1733T>C (p.Ile578Thr) c.1730T>C (p.Ile577Thr) c.1745T>C (p.Ile582Thr) c.1742T>C (p.Ile581Thr) c.1517T>C (p.Ile506Thr) n.2235T>C n.2249T>C | |
2 | g.43875390T>G | CA346670689 | ABCG8 | c.1733T>G (p.Ile578Arg) c.1730T>G (p.Ile577Arg) c.1745T>G (p.Ile582Arg) c.1742T>G (p.Ile581Arg) c.1517T>G (p.Ile506Arg) n.2235T>G n.2249T>G |