Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43877875T>A | CA346671496 | ABCG8 | c.1984T>A (p.Leu662Ile) c.1981T>A (p.Leu661Ile) c.1996T>A (p.Leu666Ile) c.1993T>A (p.Leu665Ile) c.1768T>A (p.Leu590Ile) n.2486T>A n.2500T>A | |
2 | g.43877875T>C | CA425908345 | ABCG8 | c.1984T>C (p.Leu662=) c.1981T>C (p.Leu661=) c.1996T>C (p.Leu666=) c.1993T>C (p.Leu665=) c.1768T>C (p.Leu590=) n.2486T>C n.2500T>C | |
2 | g.43877875T>G | CA346671495 | ABCG8 | c.1984T>G (p.Leu662Val) c.1981T>G (p.Leu661Val) c.1996T>G (p.Leu666Val) c.1993T>G (p.Leu665Val) c.1768T>G (p.Leu590Val) n.2486T>G n.2500T>G | |
2 | g.43877876T>A | CA346671497 | ABCG8 | c.1985T>A (p.Leu662Ter) c.1982T>A (p.Leu661Ter) c.1997T>A (p.Leu666Ter) c.1994T>A (p.Leu665Ter) c.1769T>A (p.Leu590Ter) n.2487T>A n.2501T>A | |
2 | g.43877876T>C | CA346671498 | ABCG8 | c.1985T>C (p.Leu662Ser) c.1982T>C (p.Leu661Ser) c.1997T>C (p.Leu666Ser) c.1994T>C (p.Leu665Ser) c.1769T>C (p.Leu590Ser) n.2487T>C n.2501T>C | |
2 | g.43877876T>G | CA346671499 | ABCG8 | c.1985T>G (p.Leu662Ter) c.1982T>G (p.Leu661Ter) c.1997T>G (p.Leu666Ter) c.1994T>G (p.Leu665Ter) c.1769T>G (p.Leu590Ter) n.2487T>G n.2501T>G | |
2 | g.43877877A>C | CA346671500 | ABCG8 | c.1986A>C (p.Leu662Phe) c.1983A>C (p.Leu661Phe) c.1998A>C (p.Leu666Phe) c.1995A>C (p.Leu665Phe) c.1770A>C (p.Leu590Phe) n.2488A>C n.2502A>C | |
2 | g.43877877A>G | CA425908346 | ABCG8 | c.1986A>G (p.Leu662=) c.1983A>G (p.Leu661=) c.1998A>G (p.Leu666=) c.1995A>G (p.Leu665=) c.1770A>G (p.Leu590=) n.2488A>G n.2502A>G | |
2 | g.43877877A>T | CA346671501 | ABCG8 | c.1986A>T (p.Leu662Phe) c.1983A>T (p.Leu661Phe) c.1998A>T (p.Leu666Phe) c.1995A>T (p.Leu665Phe) c.1770A>T (p.Leu590Phe) n.2488A>T n.2502A>T | |
2 | g.43877878A= | CA2493965171 | ABCG8 | c.1987A= (p.Arg663=) c.1984A= (p.Arg662=) c.1999A= (p.Arg667=) c.1996A= (p.Arg666=) c.1771A= (p.Arg591=) n.2489A= n.2503A= | |
2 | g.43877878A>C | CA425908347 | ABCG8 | c.1987A>C (p.Arg663=) c.1984A>C (p.Arg662=) c.1999A>C (p.Arg667=) c.1996A>C (p.Arg666=) c.1771A>C (p.Arg591=) n.2489A>C n.2503A>C | |
2 | g.43877878A>G | CA1637733 | ABCG8 | c.1987A>G (p.Arg663Gly) c.1984A>G (p.Arg662Gly) c.1999A>G (p.Arg667Gly) c.1996A>G (p.Arg666Gly) c.1771A>G (p.Arg591Gly) n.2489A>G n.2503A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877878A>T | CA346671502 | ABCG8 | c.1987A>T (p.Arg663Trp) c.1984A>T (p.Arg662Trp) c.1999A>T (p.Arg667Trp) c.1996A>T (p.Arg666Trp) c.1771A>T (p.Arg591Trp) n.2489A>T n.2503A>T | |
2 | g.43877879G>A | CA346671503 | ABCG8 | c.1988G>A (p.Arg663Lys) c.1985G>A (p.Arg662Lys) c.2000G>A (p.Arg667Lys) c.1997G>A (p.Arg666Lys) c.1772G>A (p.Arg591Lys) n.2490G>A n.2504G>A | |
2 | g.43877879G>C | CA346671504 | ABCG8 | c.1988G>C (p.Arg663Thr) c.1985G>C (p.Arg662Thr) c.2000G>C (p.Arg667Thr) c.1997G>C (p.Arg666Thr) c.1772G>C (p.Arg591Thr) n.2490G>C n.2504G>C | |
2 | g.43877879G>T | CA346671505 | ABCG8 | c.1988G>T (p.Arg663Met) c.1985G>T (p.Arg662Met) c.2000G>T (p.Arg667Met) c.1997G>T (p.Arg666Met) c.1772G>T (p.Arg591Met) n.2490G>T n.2504G>T | |
2 | g.43877880G>A | CA425908348 | ABCG8 | c.1989G>A (p.Arg663=) c.1986G>A (p.Arg662=) c.2001G>A (p.Arg667=) c.1998G>A (p.Arg666=) c.1773G>A (p.Arg591=) n.2491G>A n.2505G>A | |
2 | g.43877880G>C | CA346671506 | ABCG8 | c.1989G>C (p.Arg663Ser) c.1986G>C (p.Arg662Ser) c.2001G>C (p.Arg667Ser) c.1998G>C (p.Arg666Ser) c.1773G>C (p.Arg591Ser) n.2491G>C n.2505G>C | |
2 | g.43877880G= | CA2493965172 | ABCG8 | c.1989G= (p.Arg663=) c.1986G= (p.Arg662=) c.2001G= (p.Arg667=) c.1998G= (p.Arg666=) c.1773G= (p.Arg591=) n.2491G= n.2505G= | |
2 | g.43877880G>T | CA346671507 | ABCG8 | c.1989G>T (p.Arg663Ser) c.1986G>T (p.Arg662Ser) c.2001G>T (p.Arg667Ser) c.1998G>T (p.Arg666Ser) c.1773G>T (p.Arg591Ser) n.2491G>T n.2505G>T | dbSNP |
2 | g.43877881T>A | CA346671508 | ABCG8 | c.1990T>A (p.Phe664Ile) c.1987T>A (p.Phe663Ile) c.2002T>A (p.Phe668Ile) c.1999T>A (p.Phe667Ile) c.1774T>A (p.Phe592Ile) n.2492T>A n.2506T>A | |
2 | g.43877881T>C | CA346671510 | ABCG8 | c.1990T>C (p.Phe664Leu) c.1987T>C (p.Phe663Leu) c.2002T>C (p.Phe668Leu) c.1999T>C (p.Phe667Leu) c.1774T>C (p.Phe592Leu) n.2492T>C n.2506T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877881T>G | CA346671509 | ABCG8 | c.1990T>G (p.Phe664Val) c.1987T>G (p.Phe663Val) c.2002T>G (p.Phe668Val) c.1999T>G (p.Phe667Val) c.1774T>G (p.Phe592Val) n.2492T>G n.2506T>G | |
2 | g.43877881T= | CA2493965173 | ABCG8 | c.1990T= (p.Phe664=) c.1987T= (p.Phe663=) c.2002T= (p.Phe668=) c.1999T= (p.Phe667=) c.1774T= (p.Phe592=) n.2492T= n.2506T= | |
2 | g.43877882T>A | CA346671511 | ABCG8 | c.1991T>A (p.Phe664Tyr) c.1988T>A (p.Phe663Tyr) c.2003T>A (p.Phe668Tyr) c.2000T>A (p.Phe667Tyr) c.1775T>A (p.Phe592Tyr) n.2493T>A n.2507T>A | |
2 | g.43877882T>C | CA346671512 | ABCG8 | c.1991T>C (p.Phe664Ser) c.1988T>C (p.Phe663Ser) c.2003T>C (p.Phe668Ser) c.2000T>C (p.Phe667Ser) c.1775T>C (p.Phe592Ser) n.2493T>C n.2507T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877882T>G | CA346671514 | ABCG8 | c.1991T>G (p.Phe664Cys) c.1988T>G (p.Phe663Cys) c.2003T>G (p.Phe668Cys) c.2000T>G (p.Phe667Cys) c.1775T>G (p.Phe592Cys) n.2493T>G n.2507T>G | gnomAD v4 |
2 | g.43877882T= | CA2493965174 | ABCG8 | c.1991T= (p.Phe664=) c.1988T= (p.Phe663=) c.2003T= (p.Phe668=) c.2000T= (p.Phe667=) c.1775T= (p.Phe592=) n.2493T= n.2507T= | |
2 | g.43877883C>A | CA346671516 | ABCG8 | c.1992C>A (p.Phe664Leu) c.1989C>A (p.Phe663Leu) c.2004C>A (p.Phe668Leu) c.2001C>A (p.Phe667Leu) c.1776C>A (p.Phe592Leu) n.2494C>A n.2508C>A | |
2 | g.43877883C>G | CA346671518 | ABCG8 | c.1992C>G (p.Phe664Leu) c.1989C>G (p.Phe663Leu) c.2004C>G (p.Phe668Leu) c.2001C>G (p.Phe667Leu) c.1776C>G (p.Phe592Leu) n.2494C>G n.2508C>G | |
2 | g.43877883C>T | CA425908350 | ABCG8 | c.1992C>T (p.Phe664=) c.1989C>T (p.Phe663=) c.2004C>T (p.Phe668=) c.2001C>T (p.Phe667=) c.1776C>T (p.Phe592=) n.2494C>T n.2508C>T | gnomAD v4 |
2 | g.43877884A= | CA2493965175 | ABCG8 | c.1993A= (p.Ile665=) c.1990A= (p.Ile664=) c.2005A= (p.Ile669=) c.2002A= (p.Ile668=) c.1777A= (p.Ile593=) n.2495A= n.2509A= | |
2 | g.43877884A>C | CA346671520 | ABCG8 | c.1993A>C (p.Ile665Leu) c.1990A>C (p.Ile664Leu) c.2005A>C (p.Ile669Leu) c.2002A>C (p.Ile668Leu) c.1777A>C (p.Ile593Leu) n.2495A>C n.2509A>C | dbSNP |
2 | g.43877884A>G | CA346671522 | ABCG8 | c.1993A>G (p.Ile665Val) c.1990A>G (p.Ile664Val) c.2005A>G (p.Ile669Val) c.2002A>G (p.Ile668Val) c.1777A>G (p.Ile593Val) n.2495A>G n.2509A>G | |
2 | g.43877884A>T | CA346671524 | ABCG8 | c.1993A>T (p.Ile665Phe) c.1990A>T (p.Ile664Phe) c.2005A>T (p.Ile669Phe) c.2002A>T (p.Ile668Phe) c.1777A>T (p.Ile593Phe) n.2495A>T n.2509A>T | |
2 | g.43877885T>A | CA346671526 | ABCG8 | c.1994T>A (p.Ile665Asn) c.1991T>A (p.Ile664Asn) c.2006T>A (p.Ile669Asn) c.2003T>A (p.Ile668Asn) c.1778T>A (p.Ile593Asn) n.2496T>A n.2510T>A | |
2 | g.43877885T>C | CA346671528 | ABCG8 | c.1994T>C (p.Ile665Thr) c.1991T>C (p.Ile664Thr) c.2006T>C (p.Ile669Thr) c.2003T>C (p.Ile668Thr) c.1778T>C (p.Ile593Thr) n.2496T>C n.2510T>C | gnomAD v4 |
2 | g.43877885T>G | CA46474804 | ABCG8 | c.1994T>G (p.Ile665Ser) c.1991T>G (p.Ile664Ser) c.2006T>G (p.Ile669Ser) c.2003T>G (p.Ile668Ser) c.1778T>G (p.Ile593Ser) n.2496T>G n.2510T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877885T= | CA2493965176 | ABCG8 | c.1994T= (p.Ile665=) c.1991T= (p.Ile664=) c.2006T= (p.Ile669=) c.2003T= (p.Ile668=) c.1778T= (p.Ile593=) n.2496T= n.2510T= | |
2 | g.43877886C>A | CA425908351 | ABCG8 | c.1995C>A (p.Ile665=) c.1992C>A (p.Ile664=) c.2007C>A (p.Ile669=) c.2004C>A (p.Ile668=) c.1779C>A (p.Ile593=) n.2497C>A n.2511C>A | |
2 | g.43877886C>G | CA346671530 | ABCG8 | c.1995C>G (p.Ile665Met) c.1992C>G (p.Ile664Met) c.2007C>G (p.Ile669Met) c.2004C>G (p.Ile668Met) c.1779C>G (p.Ile593Met) n.2497C>G n.2511C>G | gnomAD v4 |
2 | g.43877886C>T | CA425908352 | ABCG8 | c.1995C>T (p.Ile665=) c.1992C>T (p.Ile664=) c.2007C>T (p.Ile669=) c.2004C>T (p.Ile668=) c.1779C>T (p.Ile593=) n.2497C>T n.2511C>T | |
2 | g.43877887A>C | CA346671536 | ABCG8 | c.1996A>C (p.Lys666Gln) c.1993A>C (p.Lys665Gln) c.2008A>C (p.Lys670Gln) c.2005A>C (p.Lys669Gln) c.1780A>C (p.Lys594Gln) n.2498A>C n.2512A>C | gnomAD v4 |
2 | g.43877887A>G | CA346671533 | ABCG8 | c.1996A>G (p.Lys666Glu) c.1993A>G (p.Lys665Glu) c.2008A>G (p.Lys670Glu) c.2005A>G (p.Lys669Glu) c.1780A>G (p.Lys594Glu) n.2498A>G n.2512A>G | |
2 | g.43877887A>T | CA346671534 | ABCG8 | c.1996A>T (p.Lys666Ter) c.1993A>T (p.Lys665Ter) c.2008A>T (p.Lys670Ter) c.2005A>T (p.Lys669Ter) c.1780A>T (p.Lys594Ter) n.2498A>T n.2512A>T | |
2 | g.43877888A>C | CA346671538 | ABCG8 | c.1997A>C (p.Lys666Thr) c.1994A>C (p.Lys665Thr) c.2009A>C (p.Lys670Thr) c.2006A>C (p.Lys669Thr) c.1781A>C (p.Lys594Thr) n.2499A>C n.2513A>C | |
2 | g.43877888A>G | CA346671540 | ABCG8 | c.1997A>G (p.Lys666Arg) c.1994A>G (p.Lys665Arg) c.2009A>G (p.Lys670Arg) c.2006A>G (p.Lys669Arg) c.1781A>G (p.Lys594Arg) n.2499A>G n.2513A>G | |
2 | g.43877888A>T | CA346671541 | ABCG8 | c.1997A>T (p.Lys666Ile) c.1994A>T (p.Lys665Ile) c.2009A>T (p.Lys670Ile) c.2006A>T (p.Lys669Ile) c.1781A>T (p.Lys594Ile) n.2499A>T n.2513A>T | |
2 | g.43877889A>C | CA346671543 | ABCG8 | c.1998A>C (p.Lys666Asn) c.1995A>C (p.Lys665Asn) c.2010A>C (p.Lys670Asn) c.2007A>C (p.Lys669Asn) c.1782A>C (p.Lys594Asn) n.2500A>C n.2514A>C | |
2 | g.43877889A>G | CA425908353 | ABCG8 | c.1998A>G (p.Lys666=) c.1995A>G (p.Lys665=) c.2010A>G (p.Lys670=) c.2007A>G (p.Lys669=) c.1782A>G (p.Lys594=) n.2500A>G n.2514A>G | |
2 | g.43877889A>T | CA346671545 | ABCG8 | c.1998A>T (p.Lys666Asn) c.1995A>T (p.Lys665Asn) c.2010A>T (p.Lys670Asn) c.2007A>T (p.Lys669Asn) c.1782A>T (p.Lys594Asn) n.2500A>T n.2514A>T | |
2 | g.43877890C>A | CA346671547 | ABCG8 | c.1999C>A (p.Gln667Lys) c.1996C>A (p.Gln666Lys) c.2011C>A (p.Gln671Lys) c.2008C>A (p.Gln670Lys) c.1783C>A (p.Gln595Lys) n.2501C>A n.2515C>A | |
2 | g.43877890C>G | CA346671549 | ABCG8 | c.1999C>G (p.Gln667Glu) c.1996C>G (p.Gln666Glu) c.2011C>G (p.Gln671Glu) c.2008C>G (p.Gln670Glu) c.1783C>G (p.Gln595Glu) n.2501C>G n.2515C>G | |
2 | g.43877890C>T | CA346671551 | ABCG8 | c.1999C>T (p.Gln667Ter) c.1996C>T (p.Gln666Ter) c.2011C>T (p.Gln671Ter) c.2008C>T (p.Gln670Ter) c.1783C>T (p.Gln595Ter) n.2501C>T n.2515C>T | |
2 | g.43877891A>C | CA346671553 | ABCG8 | c.2000A>C (p.Gln667Pro) c.1997A>C (p.Gln666Pro) c.2012A>C (p.Gln671Pro) c.2009A>C (p.Gln670Pro) c.1784A>C (p.Gln595Pro) n.2502A>C n.2516A>C | |
2 | g.43877891A>G | CA346671554 | ABCG8 | c.2000A>G (p.Gln667Arg) c.1997A>G (p.Gln666Arg) c.2012A>G (p.Gln671Arg) c.2009A>G (p.Gln670Arg) c.1784A>G (p.Gln595Arg) n.2502A>G n.2516A>G | |
2 | g.43877891A>T | CA346671556 | ABCG8 | c.2000A>T (p.Gln667Leu) c.1997A>T (p.Gln666Leu) c.2012A>T (p.Gln671Leu) c.2009A>T (p.Gln670Leu) c.1784A>T (p.Gln595Leu) n.2502A>T n.2516A>T | |
2 | g.43877892G>A | CA425908354 | ABCG8 | c.2001G>A (p.Gln667=) c.1998G>A (p.Gln666=) c.2013G>A (p.Gln671=) c.2010G>A (p.Gln670=) c.1785G>A (p.Gln595=) n.2503G>A n.2517G>A | |
2 | g.43877892G>C | CA346671558 | ABCG8 | c.2001G>C (p.Gln667His) c.1998G>C (p.Gln666His) c.2013G>C (p.Gln671His) c.2010G>C (p.Gln670His) c.1785G>C (p.Gln595His) n.2503G>C n.2517G>C | |
2 | g.43877892G>T | CA346671560 | ABCG8 | c.2001G>T (p.Gln667His) c.1998G>T (p.Gln666His) c.2013G>T (p.Gln671His) c.2010G>T (p.Gln670His) c.1785G>T (p.Gln595His) n.2503G>T n.2517G>T | COSMIC |
2 | g.43877893A>C | CA346671562 | ABCG8 | c.2002A>C (p.Lys668Gln) c.1999A>C (p.Lys667Gln) c.2014A>C (p.Lys672Gln) c.2011A>C (p.Lys671Gln) c.1786A>C (p.Lys596Gln) n.2504A>C n.2518A>C | |
2 | g.43877893A>G | CA346671564 | ABCG8 | c.2002A>G (p.Lys668Glu) c.1999A>G (p.Lys667Glu) c.2014A>G (p.Lys672Glu) c.2011A>G (p.Lys671Glu) c.1786A>G (p.Lys596Glu) n.2504A>G n.2518A>G | |
2 | g.43877893A>T | CA346671565 | ABCG8 | c.2002A>T (p.Lys668Ter) c.1999A>T (p.Lys667Ter) c.2014A>T (p.Lys672Ter) c.2011A>T (p.Lys671Ter) c.1786A>T (p.Lys596Ter) n.2504A>T n.2518A>T | |
2 | g.43877894A>C | CA346671566 | ABCG8 | c.2003A>C (p.Lys668Thr) c.2000A>C (p.Lys667Thr) c.2015A>C (p.Lys672Thr) c.2012A>C (p.Lys671Thr) c.1787A>C (p.Lys596Thr) n.2505A>C n.2519A>C | |
2 | g.43877894A>G | CA346671568 | ABCG8 | c.2003A>G (p.Lys668Arg) c.2000A>G (p.Lys667Arg) c.2015A>G (p.Lys672Arg) c.2012A>G (p.Lys671Arg) c.1787A>G (p.Lys596Arg) n.2505A>G n.2519A>G | |
2 | g.43877894A>T | CA346671570 | ABCG8 | c.2003A>T (p.Lys668Ile) c.2000A>T (p.Lys667Ile) c.2015A>T (p.Lys672Ile) c.2012A>T (p.Lys671Ile) c.1787A>T (p.Lys596Ile) n.2505A>T n.2519A>T | |
2 | g.43877895A= | CA2493965177 | ABCG8 | c.2004A= (p.Lys668=) c.2001A= (p.Lys667=) c.2016A= (p.Lys672=) c.2013A= (p.Lys671=) c.1788A= (p.Lys596=) n.2506A= n.2520A= | |
2 | g.43877895A>C | CA346671572 | ABCG8 | c.2004A>C (p.Lys668Asn) c.2001A>C (p.Lys667Asn) c.2016A>C (p.Lys672Asn) c.2013A>C (p.Lys671Asn) c.1788A>C (p.Lys596Asn) n.2506A>C n.2520A>C | |
2 | g.43877895A>G | CA425908355 | ABCG8 | c.2004A>G (p.Lys668=) c.2001A>G (p.Lys667=) c.2016A>G (p.Lys672=) c.2013A>G (p.Lys671=) c.1788A>G (p.Lys596=) n.2506A>G n.2520A>G | dbSNP |
2 | g.43877895A>T | CA346671573 | ABCG8 | c.2004A>T (p.Lys668Asn) c.2001A>T (p.Lys667Asn) c.2016A>T (p.Lys672Asn) c.2013A>T (p.Lys671Asn) c.1788A>T (p.Lys596Asn) n.2506A>T n.2520A>T | |
2 | g.43877896C>A | CA346671576 | ABCG8 | c.2005C>A (p.Pro669Thr) c.2002C>A (p.Pro668Thr) c.2017C>A (p.Pro673Thr) c.2014C>A (p.Pro672Thr) c.1789C>A (p.Pro597Thr) n.2507C>A n.2521C>A | |
2 | g.43877896C= | CA2493965178 | ABCG8 | c.2005C= (p.Pro669=) c.2002C= (p.Pro668=) c.2017C= (p.Pro673=) c.2014C= (p.Pro672=) c.1789C= (p.Pro597=) n.2507C= n.2521C= | |
2 | g.43877896C>G | CA346671578 | ABCG8 | c.2005C>G (p.Pro669Ala) c.2002C>G (p.Pro668Ala) c.2017C>G (p.Pro673Ala) c.2014C>G (p.Pro672Ala) c.1789C>G (p.Pro597Ala) n.2507C>G n.2521C>G | dbSNP |
2 | g.43877896C>T | CA346671579 | ABCG8 | c.2005C>T (p.Pro669Ser) c.2002C>T (p.Pro668Ser) c.2017C>T (p.Pro673Ser) c.2014C>T (p.Pro672Ser) c.1789C>T (p.Pro597Ser) n.2507C>T n.2521C>T | |
2 | g.43877897C>A | CA346671585 | ABCG8 | c.2006C>A (p.Pro669Gln) c.2003C>A (p.Pro668Gln) c.2018C>A (p.Pro673Gln) c.2015C>A (p.Pro672Gln) c.1790C>A (p.Pro597Gln) n.2508C>A n.2522C>A | |
2 | g.43877897C>G | CA346671583 | ABCG8 | c.2006C>G (p.Pro669Arg) c.2003C>G (p.Pro668Arg) c.2018C>G (p.Pro673Arg) c.2015C>G (p.Pro672Arg) c.1790C>G (p.Pro597Arg) n.2508C>G n.2522C>G | |
2 | g.43877897C>T | CA346671581 | ABCG8 | c.2006C>T (p.Pro669Leu) c.2003C>T (p.Pro668Leu) c.2018C>T (p.Pro673Leu) c.2015C>T (p.Pro672Leu) c.1790C>T (p.Pro597Leu) n.2508C>T n.2522C>T | |
2 | g.43877901_43877905del | CA2576953932 | ABCG8 | c.2010_2014del (p.Ser670ArgfsTer?) c.2007_2011del (p.Ser669ArgfsTer?) c.2022_2026del (p.Ser674ArgfsTer?) c.2019_2023del (p.Ser673ArgfsTer?) c.1794_1798del (p.Ser598ArgfsTer?) n.2512_2516del n.2526_2530del | gnomAD v4 |
2 | g.43877898A>C | CA425908357 | ABCG8 | c.2007A>C (p.Pro669=) c.2004A>C (p.Pro668=) c.2019A>C (p.Pro673=) c.2016A>C (p.Pro672=) c.1791A>C (p.Pro597=) n.2509A>C n.2523A>C | |
2 | g.43877898A>G | CA425908358 | ABCG8 | c.2007A>G (p.Pro669=) c.2004A>G (p.Pro668=) c.2019A>G (p.Pro673=) c.2016A>G (p.Pro672=) c.1791A>G (p.Pro597=) n.2509A>G n.2523A>G | gnomAD v4 |
2 | g.43877898A>T | CA425908359 | ABCG8 | c.2007A>T (p.Pro669=) c.2004A>T (p.Pro668=) c.2019A>T (p.Pro673=) c.2016A>T (p.Pro672=) c.1791A>T (p.Pro597=) n.2509A>T n.2523A>T | |
2 | g.43877899del | CA2658838104 | ABCG8 | c.2008del (p.Ser670ValfsTer17) c.2005del (p.Ser669ValfsTer17) c.2020del (p.Ser674ValfsTer17) c.2017del (p.Ser673ValfsTer17) c.1792del (p.Ser598ValfsTer17) n.2510del n.2524del | gnomAD v4 |
2 | g.43877899A>C | CA346671586 | ABCG8 | c.2008A>C (p.Ser670Arg) c.2005A>C (p.Ser669Arg) c.2020A>C (p.Ser674Arg) c.2017A>C (p.Ser673Arg) c.1792A>C (p.Ser598Arg) n.2510A>C n.2524A>C | |
2 | g.43877899A>G | CA346671589 | ABCG8 | c.2008A>G (p.Ser670Gly) c.2005A>G (p.Ser669Gly) c.2020A>G (p.Ser674Gly) c.2017A>G (p.Ser673Gly) c.1792A>G (p.Ser598Gly) n.2510A>G n.2524A>G | |
2 | g.43877899A>T | CA346671587 | ABCG8 | c.2008A>T (p.Ser670Cys) c.2005A>T (p.Ser669Cys) c.2020A>T (p.Ser674Cys) c.2017A>T (p.Ser673Cys) c.1792A>T (p.Ser598Cys) n.2510A>T n.2524A>T | |
2 | g.43877899_43877900insACACACCCAACACA | CA2749705971 | ABCG8 | c.2008_2009insACACACCCAACACA (p.Ser670AsnfsTer22) c.2005_2006insACACACCCAACACA (p.Ser669AsnfsTer22) c.2020_2021insACACACCCAACACA (p.Ser674AsnfsTer22) c.2017_2018insACACACCCAACACA (p.Ser673AsnfsTer22) c.1792_1793insACACACCCAACACA (p.Ser598AsnfsTer22) n.2510_2511insACACACCCAACACA n.2524_2525insACACACCCAACACA | |
2 | g.43877900G>A | CA346671591 | ABCG8 | c.2009G>A (p.Ser670Asn) c.2006G>A (p.Ser669Asn) c.2021G>A (p.Ser674Asn) c.2018G>A (p.Ser673Asn) c.1793G>A (p.Ser598Asn) n.2511G>A n.2525G>A | |
2 | g.43877900G>C | CA346671593 | ABCG8 | c.2009G>C (p.Ser670Thr) c.2006G>C (p.Ser669Thr) c.2021G>C (p.Ser674Thr) c.2018G>C (p.Ser673Thr) c.1793G>C (p.Ser598Thr) n.2511G>C n.2525G>C | |
2 | g.43877900G>T | CA346671594 | ABCG8 | c.2009G>T (p.Ser670Ile) c.2006G>T (p.Ser669Ile) c.2021G>T (p.Ser674Ile) c.2018G>T (p.Ser673Ile) c.1793G>T (p.Ser598Ile) n.2511G>T n.2525G>T | |
2 | g.43877901del | CA2749705972 | ABCG8 | c.2010del (p.Gln671LysfsTer16) c.2007del (p.Gln670LysfsTer16) c.2022del (p.Gln675LysfsTer16) c.2019del (p.Gln674LysfsTer16) c.1794del (p.Gln599LysfsTer16) n.2512del n.2526del | |
2 | g.43877901T>A | CA346671595 | ABCG8 | c.2010T>A (p.Ser670Arg) c.2007T>A (p.Ser669Arg) c.2022T>A (p.Ser674Arg) c.2019T>A (p.Ser673Arg) c.1794T>A (p.Ser598Arg) n.2512T>A n.2526T>A | |
2 | g.43877901T>C | CA425908360 | ABCG8 | c.2010T>C (p.Ser670=) c.2007T>C (p.Ser669=) c.2022T>C (p.Ser674=) c.2019T>C (p.Ser673=) c.1794T>C (p.Ser598=) n.2512T>C n.2526T>C | |
2 | g.43877901T>G | CA346671597 | ABCG8 | c.2010T>G (p.Ser670Arg) c.2007T>G (p.Ser669Arg) c.2022T>G (p.Ser674Arg) c.2019T>G (p.Ser673Arg) c.1794T>G (p.Ser598Arg) n.2512T>G n.2526T>G | |
2 | g.43877901_43877902insGATT | CA2658838105 | ABCG8 | c.2010_2011insGATT (p.Gln671AspfsTer?) c.2007_2008insGATT (p.Gln670AspfsTer?) c.2022_2023insGATT (p.Gln675AspfsTer?) c.2019_2020insGATT (p.Gln674AspfsTer?) c.1794_1795insGATT (p.Gln599AspfsTer?) n.2512_2513insGATT n.2526_2527insGATT | gnomAD v4 |
2 | g.43877901_43877916del | CA2658838106 | ABCG8 | c.2010_*3del (n.[c.2010_*3del;Ser670ArgfsTer12]) c.2007_*3del (n.[c.2007_*3del;Ser669ArgfsTer12]) c.2022_*3del (n.[c.2022_*3del;Ser674ArgfsTer12]) c.2019_*3del (n.[c.2019_*3del;Ser673ArgfsTer12]) c.1794_*3del (n.[c.1794_*3del;Ser598ArgfsTer12]) n.2512_2527del n.2526_2541del | gnomAD v4 |
2 | g.43877902C>A | CA346671598 | ABCG8 | c.2011C>A (p.Gln671Lys) c.2008C>A (p.Gln670Lys) c.2023C>A (p.Gln675Lys) c.2020C>A (p.Gln674Lys) c.1795C>A (p.Gln599Lys) n.2513C>A n.2527C>A | |
2 | g.43877902C>G | CA346671600 | ABCG8 | c.2011C>G (p.Gln671Glu) c.2008C>G (p.Gln670Glu) c.2023C>G (p.Gln675Glu) c.2020C>G (p.Gln674Glu) c.1795C>G (p.Gln599Glu) n.2513C>G n.2527C>G | gnomAD v4 |
2 | g.43877902C>T | CA346671601 | ABCG8 | c.2011C>T (p.Gln671Ter) c.2008C>T (p.Gln670Ter) c.2023C>T (p.Gln675Ter) c.2020C>T (p.Gln674Ter) c.1795C>T (p.Gln599Ter) n.2513C>T n.2527C>T | |
2 | g.43877903A>C | CA346671604 | ABCG8 | c.2012A>C (p.Gln671Pro) c.2009A>C (p.Gln670Pro) c.2024A>C (p.Gln675Pro) c.2021A>C (p.Gln674Pro) c.1796A>C (p.Gln599Pro) n.2514A>C n.2528A>C | |
2 | g.43877903A>G | CA346671606 | ABCG8 | c.2012A>G (p.Gln671Arg) c.2009A>G (p.Gln670Arg) c.2024A>G (p.Gln675Arg) c.2021A>G (p.Gln674Arg) c.1796A>G (p.Gln599Arg) n.2514A>G n.2528A>G | |
2 | g.43877903A>T | CA346671607 | ABCG8 | c.2012A>T (p.Gln671Leu) c.2009A>T (p.Gln670Leu) c.2024A>T (p.Gln675Leu) c.2021A>T (p.Gln674Leu) c.1796A>T (p.Gln599Leu) n.2514A>T n.2528A>T | |
2 | g.43877904A= | CA2493965179 | ABCG8 | c.2013A= (p.Gln671=) c.2010A= (p.Gln670=) c.2025A= (p.Gln675=) c.2022A= (p.Gln674=) c.1797A= (p.Gln599=) n.2515A= n.2529A= | |
2 | g.43877904A>C | CA346671611 | ABCG8 | c.2013A>C (p.Gln671His) c.2010A>C (p.Gln670His) c.2025A>C (p.Gln675His) c.2022A>C (p.Gln674His) c.1797A>C (p.Gln599His) n.2515A>C n.2529A>C | |
2 | g.43877904A>G | CA46474808 | ABCG8 | c.2013A>G (p.Gln671=) c.2010A>G (p.Gln670=) c.2025A>G (p.Gln675=) c.2022A>G (p.Gln674=) c.1797A>G (p.Gln599=) n.2515A>G n.2529A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877904A>T | CA346671608 | ABCG8 | c.2013A>T (p.Gln671His) c.2010A>T (p.Gln670His) c.2025A>T (p.Gln675His) c.2022A>T (p.Gln674His) c.1797A>T (p.Gln599His) n.2515A>T n.2529A>T | |
2 | g.43877905G>A | CA1637734 | ABCG8 | c.2014G>A (p.Asp672Asn) c.2011G>A (p.Asp671Asn) c.2026G>A (p.Asp676Asn) c.2023G>A (p.Asp675Asn) c.1798G>A (p.Asp600Asn) n.2516G>A n.2530G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877905G>C | CA346671614 | ABCG8 | c.2014G>C (p.Asp672His) c.2011G>C (p.Asp671His) c.2026G>C (p.Asp676His) c.2023G>C (p.Asp675His) c.1798G>C (p.Asp600His) n.2516G>C n.2530G>C | |
2 | g.43877905G= | CA2493965180 | ABCG8 | c.2014G= (p.Asp672=) c.2011G= (p.Asp671=) c.2026G= (p.Asp676=) c.2023G= (p.Asp675=) c.1798G= (p.Asp600=) n.2516G= n.2530G= | |
2 | g.43877905G>T | CA346671615 | ABCG8 | c.2014G>T (p.Asp672Tyr) c.2011G>T (p.Asp671Tyr) c.2026G>T (p.Asp676Tyr) c.2023G>T (p.Asp675Tyr) c.1798G>T (p.Asp600Tyr) n.2516G>T n.2530G>T | |
2 | g.43877906A= | CA2493965181 | ABCG8 | c.2015A= (p.Asp672=) c.2012A= (p.Asp671=) c.2027A= (p.Asp676=) c.2024A= (p.Asp675=) c.1799A= (p.Asp600=) n.2517A= n.2531A= | |
2 | g.43877906A>C | CA346671617 | ABCG8 | c.2015A>C (p.Asp672Ala) c.2012A>C (p.Asp671Ala) c.2027A>C (p.Asp676Ala) c.2024A>C (p.Asp675Ala) c.1799A>C (p.Asp600Ala) n.2517A>C n.2531A>C | |
2 | g.43877906A>G | CA346671619 | ABCG8 | c.2015A>G (p.Asp672Gly) c.2012A>G (p.Asp671Gly) c.2027A>G (p.Asp676Gly) c.2024A>G (p.Asp675Gly) c.1799A>G (p.Asp600Gly) n.2517A>G n.2531A>G | |
2 | g.43877906A>T | CA46474829 | ABCG8 | c.2015A>T (p.Asp672Val) c.2012A>T (p.Asp671Val) c.2027A>T (p.Asp676Val) c.2024A>T (p.Asp675Val) c.1799A>T (p.Asp600Val) n.2517A>T n.2531A>T | dbSNP gnomAD v4 |
2 | g.43877907C>A | CA346671620 | ABCG8 | c.2016C>A (p.Asp672Glu) c.2013C>A (p.Asp671Glu) c.2028C>A (p.Asp676Glu) c.2025C>A (p.Asp675Glu) c.1800C>A (p.Asp600Glu) n.2518C>A n.2532C>A | gnomAD v4 |
2 | g.43877907C>G | CA346671622 | ABCG8 | c.2016C>G (p.Asp672Glu) c.2013C>G (p.Asp671Glu) c.2028C>G (p.Asp676Glu) c.2025C>G (p.Asp675Glu) c.1800C>G (p.Asp600Glu) n.2518C>G n.2532C>G | gnomAD v4 |
2 | g.43877907C>T | CA425908361 | ABCG8 | c.2016C>T (p.Asp672=) c.2013C>T (p.Asp671=) c.2028C>T (p.Asp676=) c.2025C>T (p.Asp675=) c.1800C>T (p.Asp600=) n.2518C>T n.2532C>T | |
2 | g.43877908T>A | CA346671625 | ABCG8 | c.2017T>A (p.Trp673Arg) c.2014T>A (p.Trp672Arg) c.2029T>A (p.Trp677Arg) c.2026T>A (p.Trp676Arg) c.1801T>A (p.Trp601Arg) n.2519T>A n.2533T>A | |
2 | g.43877908T>C | CA1637735 | ABCG8 | c.2017T>C (p.Trp673Arg) c.2014T>C (p.Trp672Arg) c.2029T>C (p.Trp677Arg) c.2026T>C (p.Trp676Arg) c.1801T>C (p.Trp601Arg) n.2519T>C n.2533T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877908T>G | CA346671627 | ABCG8 | c.2017T>G (p.Trp673Gly) c.2014T>G (p.Trp672Gly) c.2029T>G (p.Trp677Gly) c.2026T>G (p.Trp676Gly) c.1801T>G (p.Trp601Gly) n.2519T>G n.2533T>G | |
2 | g.43877908T= | CA2493965182 | ABCG8 | c.2017T= (p.Trp673=) c.2014T= (p.Trp672=) c.2029T= (p.Trp677=) c.2026T= (p.Trp676=) c.1801T= (p.Trp601=) n.2519T= n.2533T= | |
2 | g.43877909G>A | CA346671631 | ABCG8 | c.2018G>A (p.Trp673Ter) c.2015G>A (p.Trp672Ter) c.2030G>A (p.Trp677Ter) c.2027G>A (p.Trp676Ter) c.1802G>A (p.Trp601Ter) n.2520G>A n.2534G>A | gnomAD v4 |
2 | g.43877909G>C | CA346671630 | ABCG8 | c.2018G>C (p.Trp673Ser) c.2015G>C (p.Trp672Ser) c.2030G>C (p.Trp677Ser) c.2027G>C (p.Trp676Ser) c.1802G>C (p.Trp601Ser) n.2520G>C n.2534G>C | |
2 | g.43877909G>T | CA346671629 | ABCG8 | c.2018G>T (p.Trp673Leu) c.2015G>T (p.Trp672Leu) c.2030G>T (p.Trp677Leu) c.2027G>T (p.Trp676Leu) c.1802G>T (p.Trp601Leu) n.2520G>T n.2534G>T | gnomAD v4 |
2 | g.43877910G>A | CA346671632 | ABCG8 | c.2019G>A (p.Trp673Ter) c.2016G>A (p.Trp672Ter) c.2031G>A (p.Trp677Ter) c.2028G>A (p.Trp676Ter) c.1803G>A (p.Trp601Ter) n.2521G>A n.2535G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877910G>C | CA1637736 | ABCG8 | c.2019G>C (p.Trp673Cys) c.2016G>C (p.Trp672Cys) c.2031G>C (p.Trp677Cys) c.2028G>C (p.Trp676Cys) c.1803G>C (p.Trp601Cys) n.2521G>C n.2535G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877910G= | CA2493965183 | ABCG8 | c.2019G= (p.Trp673=) c.2016G= (p.Trp672=) c.2031G= (p.Trp677=) c.2028G= (p.Trp676=) c.1803G= (p.Trp601=) n.2521G= n.2535G= | |
2 | g.43877910G>T | CA346671634 | ABCG8 | c.2019G>T (p.Trp673Cys) c.2016G>T (p.Trp672Cys) c.2031G>T (p.Trp677Cys) c.2028G>T (p.Trp676Cys) c.1803G>T (p.Trp601Cys) n.2521G>T n.2535G>T | |
2 | g.43877911T>A | CA346671636 | ABCG8 | c.2020T>A (p.Ter674Arg) c.2017T>A (p.Ter673Arg) c.2032T>A (p.Ter678Arg) c.2029T>A (p.Ter677Arg) c.1804T>A (p.Ter602Arg) n.2522T>A n.2536T>A | |
2 | g.43877911T>C | CA346671638 | ABCG8 | c.2020T>C (p.Ter674Arg) c.2017T>C (p.Ter673Arg) c.2032T>C (p.Ter678Arg) c.2029T>C (p.Ter677Arg) c.1804T>C (p.Ter602Arg) n.2522T>C n.2536T>C | |
2 | g.43877911T>G | CA346671640 | ABCG8 | c.2020T>G (p.Ter674Gly) c.2017T>G (p.Ter673Gly) c.2032T>G (p.Ter678Gly) c.2029T>G (p.Ter677Gly) c.1804T>G (p.Ter602Gly) n.2522T>G n.2536T>G | |
2 | g.43877912G>A | CA1637737 | ABCG8 | c.2021G>A (p.Ter674=) c.2018G>A (p.Ter673=) c.2033G>A (p.Ter678=) c.2030G>A (p.Ter677=) c.1805G>A (p.Ter602=) n.2523G>A n.2537G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877912G>C | CA346671643 | ABCG8 | c.2021G>C (p.Ter674Ser) c.2018G>C (p.Ter673Ser) c.2033G>C (p.Ter678Ser) c.2030G>C (p.Ter677Ser) c.1805G>C (p.Ter602Ser) n.2523G>C n.2537G>C | |
2 | g.43877912G= | CA2493965184 | ABCG8 | c.2021G= (p.Ter674=) c.2018G= (p.Ter673=) c.2033G= (p.Ter678=) c.2030G= (p.Ter677=) c.1805G= (p.Ter602=) n.2523G= n.2537G= | |
2 | g.43877912G>T | CA346671644 | ABCG8 | c.2021G>T (p.Ter674Leu) c.2018G>T (p.Ter673Leu) c.2033G>T (p.Ter678Leu) c.2030G>T (p.Ter677Leu) c.1805G>T (p.Ter602Leu) n.2523G>T n.2537G>T | |
2 | g.43877913A= | CA2493965185 | ABCG8 | c.2022A= (p.Ter674=) c.2019A= (p.Ter673=) c.2034A= (p.Ter678=) c.2031A= (p.Ter677=) c.1806A= (p.Ter602=) n.2524A= n.2538A= | |
2 | g.43877913A>C | CA346671647 | ABCG8 | c.2022A>C (p.Ter674Cys) c.2019A>C (p.Ter673Cys) c.2034A>C (p.Ter678Cys) c.2031A>C (p.Ter677Cys) c.1806A>C (p.Ter602Cys) n.2524A>C n.2538A>C | |
2 | g.43877913A>G | CA346671648 | ABCG8 | c.2022A>G (p.Ter674Trp) c.2019A>G (p.Ter673Trp) c.2034A>G (p.Ter678Trp) c.2031A>G (p.Ter677Trp) c.1806A>G (p.Ter602Trp) n.2524A>G n.2538A>G | dbSNP gnomAD v4 |
2 | g.43877913A>T | CA346671649 | ABCG8 | c.2022A>T (p.Ter674Cys) c.2019A>T (p.Ter673Cys) c.2034A>T (p.Ter678Cys) c.2031A>T (p.Ter677Cys) c.1806A>T (p.Ter602Cys) n.2524A>T n.2538A>T | gnomAD v4 |
2 | g.43877916C>A | CA2658838107 | ABCG8 | c.*3C>A (n.*3C>A) n.2527C>A n.2541C>A | gnomAD v4 |
2 | g.43877916C= | CA2493965186 | ABCG8 | c.*3C= (n.*3C=) n.2527C= n.2541C= | |
2 | g.43877916C>G | CA46474845 | ABCG8 | c.*3C>G (n.*3C>G) n.2527C>G n.2541C>G | dbSNP |
2 | g.43877918C= | CA2493965187 | ABCG8 | c.*5C= (n.*5C=) n.2529C= n.2543C= | |
2 | g.43877918C>G | CA2596915143 | ABCG8 | c.*5C>G (n.*5C>G) n.2529C>G n.2543C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877918C>T | CA1637738 | ABCG8 | c.*5C>T (n.*5C>T) n.2529C>T n.2543C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877919G>A | CA532288652 | ABCG8 | c.*6G>A (n.*6G>A) n.2530G>A n.2544G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877919G>C | CA2658838108 | ABCG8 | c.*6G>C (n.*6G>C) n.2530G>C n.2544G>C | gnomAD v4 |
2 | g.43877919G= | CA2493965189 | ABCG8 | c.*6G= (n.*6G=) n.2530G= n.2544G= | |
2 | g.43877919G>T | CA2658838109 | ABCG8 | c.*6G>T (n.*6G>T) n.2530G>T n.2544G>T | gnomAD v4 |
2 | g.43877919_43877920delinsGC | CA2493965188 | ABCG8 | c.*6_*7delinsGC (n.*6_*7delinsGC) n.2530_2531delinsGC n.2544_2545delinsGC | |
2 | g.43877920C>G | CA2658838110 | ABCG8 | c.*7C>G (n.*7C>G) n.2531C>G n.2545C>G | gnomAD v4 |
2 | g.43877921del | CA1637739 | ABCG8 | c.*8del (n.*8del) n.2532del n.2546del | dbSNP ExAC gnomAD v2 |
2 | g.43877925C>A | CA46474865 | ABCG8 | c.*12C>A (n.*12C>A) n.2536C>A n.2550C>A | dbSNP gnomAD v4 |
2 | g.43877925C= | CA2493965190 | ABCG8 | c.*12C= (n.*12C=) n.2536C= n.2550C= | |
2 | g.43877925C>G | CA1637740 | ABCG8 | c.*12C>G (n.*12C>G) n.2536C>G n.2550C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877925C>T | CA1637741 | ABCG8 | c.*12C>T (n.*12C>T) n.2536C>T n.2550C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877926G>A | CA1637742 | ABCG8 | c.*13G>A (n.*13G>A) n.2537G>A n.2551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877926G= | CA2493965191 | ABCG8 | c.*13G= (n.*13G=) n.2537G= n.2551G= | |
2 | g.43877926G>T | CA2493965192 | ABCG8 | c.*13G>T (n.*13G>T) n.2537G>T n.2551G>T | dbSNP |
2 | g.43877927T>A | CA532288659 | ABCG8 | c.*14T>A (n.*14T>A) n.2538T>A n.2552T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877927T= | CA2493965193 | ABCG8 | c.*14T= (n.*14T=) n.2538T= n.2552T= | |
2 | g.43877928C= | CA2493965194 | ABCG8 | c.*15C= (n.*15C=) n.2539C= n.2553C= | |
2 | g.43877928C>T | CA532288660 | ABCG8 | c.*15C>T (n.*15C>T) n.2539C>T n.2553C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877929T>G | CA2493965196 | ABCG8 | c.*16T>G (n.*16T>G) n.2540T>G n.2554T>G | dbSNP gnomAD v4 |
2 | g.43877929T= | CA2493965195 | ABCG8 | c.*16T= (n.*16T=) n.2540T= n.2554T= | |
2 | g.43877930G= | CA2493965197 | ABCG8 | c.*17G= (n.*17G=) n.2541G= n.2555G= | |
2 | g.43877930G>T | CA1637743 | ABCG8 | c.*17G>T (n.*17G>T) n.2541G>T n.2555G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877931C>T | CA2658838111 | ABCG8 | c.*18C>T (n.*18C>T) n.2542C>T n.2556C>T | gnomAD v4 |
2 | g.43877933C>A | CA2576953933 | ABCG8 | c.*20C>A (n.*20C>A) n.2544C>A n.2558C>A | |
2 | g.43877933C= | CA2493965198 | ABCG8 | c.*20C= (n.*20C=) n.2544C= n.2558C= | |
2 | g.43877933C>G | CA2658838112 | ABCG8 | c.*20C>G (n.*20C>G) n.2544C>G n.2558C>G | gnomAD v4 |
2 | g.43877933C>T | CA1637744 | ABCG8 | c.*20C>T (n.*20C>T) n.2544C>T n.2558C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877934G>A | CA1637745 | ABCG8 | c.*21G>A (n.*21G>A) n.2545G>A n.2559G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877934G= | CA2493965199 | ABCG8 | c.*21G= (n.*21G=) n.2545G= n.2559G= | |
2 | g.43877934G>T | CA2658838113 | ABCG8 | c.*21G>T (n.*21G>T) n.2545G>T n.2559G>T | gnomAD v4 |
2 | g.43877935C>T | CA2658838114 | ABCG8 | c.*22C>T (n.*22C>T) n.2546C>T n.2560C>T | gnomAD v4 |
2 | g.43877935_43877951delinsCTGGTGGGGGACCTGAG | CA2493965200 | ABCG8 | c.*22_*38delinsCTGGTGGGGGACCTGAG (n.*22_*38delinsCTGGTGGGGGACCTGAG) n.2546_2562delinsCTGGTGGGGGACCTGAG n.2560_2576delinsCTGGTGGGGGACCTGAG | |
2 | g.43877936T>C | CA769091982 | ABCG8 | c.*23T>C (n.*23T>C) n.2547T>C n.2561T>C | dbSNP gnomAD v4 |
2 | g.43877936T= | CA2493965201 | ABCG8 | c.*23T= (n.*23T=) n.2547T= n.2561T= | |
2 | g.43877936_43877951del | CA1637746 | ABCG8 | c.*23_*38del (n.*23_*38del) n.2547_2562del n.2561_2576del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877937G>C | CA1637747 | ABCG8 | c.*24G>C (n.*24G>C) n.2548G>C n.2562G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877937G= | CA2493965202 | ABCG8 | c.*24G= (n.*24G=) n.2548G= n.2562G= | |
2 | g.43877939T>C | CA2493965204 | ABCG8 | c.*26T>C (n.*26T>C) n.2550T>C n.2564T>C | dbSNP gnomAD v4 |
2 | g.43877939T>G | CA1637748 | ABCG8 | c.*26T>G (n.*26T>G) n.2550T>G n.2564T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877939T= | CA2493965203 | ABCG8 | c.*26T= (n.*26T=) n.2550T= n.2564T= | |
2 | g.43877940G>A | CA532288664 | ABCG8 | c.*27G>A (n.*27G>A) n.2551G>A n.2565G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877940G= | CA2493965206 | ABCG8 | c.*27G= (n.*27G=) n.2551G= n.2565G= | |
2 | g.43877940G>T | CA2493965205 | ABCG8 | c.*27G>T (n.*27G>T) n.2551G>T n.2565G>T | dbSNP gnomAD v4 |
2 | g.43877941G>T | CA2749705973 | ABCG8 | c.*28G>T (n.*28G>T) n.2552G>T n.2566G>T | |
2 | g.43877942G>A | CA2749705974 | ABCG8 | c.*29G>A (n.*29G>A) n.2553G>A n.2567G>A | |
2 | g.43877943G= | CA2493965207 | ABCG8 | c.*30G= (n.*30G=) n.2554G= n.2568G= | |
2 | g.43877943G>T | CA769091993 | ABCG8 | c.*30G>T (n.*30G>T) n.2554G>T n.2568G>T | dbSNP gnomAD v4 |
2 | g.43877944G>C | CA2493965209 | ABCG8 | c.*31G>C (n.*31G>C) n.2555G>C n.2569G>C | dbSNP gnomAD v4 |
2 | g.43877944G= | CA2493965208 | ABCG8 | c.*31G= (n.*31G=) n.2555G= n.2569G= | |
2 | g.43877945A>G | CA2658838115 | ABCG8 | c.*32A>G (n.*32A>G) n.2556A>G n.2570A>G | gnomAD v4 |
2 | g.43877946C= | CA2493965210 | ABCG8 | c.*33C= (n.*33C=) n.2557C= n.2571C= | |
2 | g.43877946C>G | CA532288665 | ABCG8 | c.*33C>G (n.*33C>G) n.2557C>G n.2571C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877947C>A | CA2493965212 | ABCG8 | c.*34C>A (n.*34C>A) n.2558C>A n.2572C>A | dbSNP gnomAD v4 |
2 | g.43877947C= | CA2493965211 | ABCG8 | c.*34C= (n.*34C=) n.2558C= n.2572C= | |
2 | g.43877948T>A | CA46474934 | ABCG8 | c.*35T>A (n.*35T>A) n.2559T>A n.2573T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877948T= | CA2493965213 | ABCG8 | c.*35T= (n.*35T=) n.2559T= n.2573T= | |
2 | g.43877949G>A | CA2658838116 | ABCG8 | c.*36G>A (n.*36G>A) n.2560G>A n.2574G>A | gnomAD v4 |
2 | g.43877949G>C | CA2658838117 | ABCG8 | c.*36G>C (n.*36G>C) n.2560G>C n.2574G>C | gnomAD v4 |
2 | g.43877951G>C | CA1637749 | ABCG8 | c.*38G>C (n.*38G>C) n.2562G>C n.2576G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877951G= | CA2493965214 | ABCG8 | c.*38G= (n.*38G=) n.2562G= n.2576G= | |
2 | g.43877952C>G | CA2658838118 | ABCG8 | c.*39C>G (n.*39C>G) n.2563C>G n.2577C>G | gnomAD v4 |
2 | g.43877954G>A | CA2658838119 | ABCG8 | c.*41G>A (n.*41G>A) n.2565G>A n.2579G>A | gnomAD v4 |
2 | g.43877955A= | CA2493965215 | ABCG8 | c.*42A= (n.*42A=) n.2566A= n.2580A= | |
2 | g.43877955A>G | CA532288667 | ABCG8 | c.*42A>G (n.*42A>G) n.2566A>G n.2580A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877955A>T | CA532288668 | ABCG8 | c.*42A>T (n.*42A>T) n.2566A>T n.2580A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877956C= | CA2493965216 | ABCG8 | c.*43C= (n.*43C=) n.2567C= n.2581C= | |
2 | g.43877956C>G | CA2749705975 | ABCG8 | c.*43C>G (n.*43C>G) n.2567C>G n.2581C>G | |
2 | g.43877956C>T | CA532288669 | ABCG8 | c.*43C>T (n.*43C>T) n.2567C>T n.2581C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877957C>A | CA2568656536 | ABCG8 | c.*44C>A (n.*44C>A) n.2568C>A n.2582C>A | gnomAD v4 |
2 | g.43877957C>T | CA2658838120 | ABCG8 | c.*44C>T (n.*44C>T) n.2568C>T n.2582C>T | gnomAD v4 |
2 | g.43877958C>A | CA1029989408 | ABCG8 | c.*45C>A (n.*45C>A) n.2569C>A n.2583C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877958C= | CA2493965217 | ABCG8 | c.*45C= (n.*45C=) n.2569C= n.2583C= | |
2 | g.43877958C>G | CA46474956 | ABCG8 | c.*45C>G (n.*45C>G) n.2569C>G n.2583C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877960T>C | CA46474970 | ABCG8 | c.*47T>C (n.*47T>C) n.2571T>C n.2585T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877960T= | CA2493965218 | ABCG8 | c.*47T= (n.*47T=) n.2571T= n.2585T= | |
2 | g.43877961C>A | CA1637750 | ABCG8 | c.*48C>A (n.*48C>A) n.2572C>A n.2586C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877961C= | CA2493965219 | ABCG8 | c.*48C= (n.*48C=) n.2572C= n.2586C= | |
2 | g.43877961C>T | CA2493965220 | ABCG8 | c.*48C>T (n.*48C>T) n.2572C>T n.2586C>T | dbSNP |
2 | g.43877962A= | CA2493965221 | ABCG8 | c.*49A= (n.*49A=) n.2573A= n.2587A= | |
2 | g.43877962A>C | CA2658838121 | ABCG8 | c.*49A>C (n.*49A>C) n.2573A>C n.2587A>C | gnomAD v4 |
2 | g.43877962A>G | CA1637751 | ABCG8 | c.*49A>G (n.*49A>G) n.2573A>G n.2587A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877962_43877963insCACCCAAC | CA2749705976 | ABCG8 | c.*49_*50insCACCCAAC (n.*49_*50insCACCCAAC) n.2573_2574insCACCCAAC n.2587_2588insCACCCAAC | |
2 | g.43877964C= | CA2493965222 | ABCG8 | c.*51C= (n.*51C=) n.2575C= n.2589C= | |
2 | g.43877964C>G | CA1637752 | ABCG8 | c.*51C>G (n.*51C>G) n.2575C>G n.2589C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877966G>A | CA769083229 | ABCG8 | c.*53G>A (n.*53G>A) n.2577G>A n.2591G>A | dbSNP gnomAD v4 |
2 | g.43877966G>C | CA2493965224 | ABCG8 | c.*53G>C (n.*53G>C) n.2577G>C n.2591G>C | dbSNP |
2 | g.43877966G= | CA2493965223 | ABCG8 | c.*53G= (n.*53G=) n.2577G= n.2591G= | |
2 | g.43877966G>T | CA2658838122 | ABCG8 | c.*53G>T (n.*53G>T) n.2577G>T n.2591G>T | gnomAD v4 |
2 | g.43877967C>T | CA2658838123 | ABCG8 | c.*54C>T (n.*54C>T) n.2578C>T n.2592C>T | gnomAD v4 |
2 | g.43877968A>T | CA2576953934 | ABCG8 | c.*55A>T (n.*55A>T) n.2579A>T n.2593A>T | gnomAD v4 |
2 | g.43877968_43877972delinsACTCC | CA2493965225 | ABCG8 | c.*55_*59delinsACTCC (n.*55_*59delinsACTCC) n.2579_2583delinsACTCC n.2593_2597delinsACTCC | |
2 | g.43877973_43877976del | CA2493965226 | ABCG8 | c.*60_*63del (n.*60_*63del) n.2584_2587del n.2598_2601del | dbSNP |
2 | g.43877971C>A | CA2658838124 | ABCG8 | c.*58C>A (n.*58C>A) n.2582C>A n.2596C>A | gnomAD v4 |
2 | g.43877971C= | CA2493965228 | ABCG8 | c.*58C= (n.*58C=) n.2582C= n.2596C= | |
2 | g.43877971C>G | CA769083233 | ABCG8 | c.*58C>G (n.*58C>G) n.2582C>G n.2596C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877971_43877974delinsCCCT | CA2493965227 | ABCG8 | c.*58_*61delinsCCCT (n.*58_*61delinsCCCT) n.2582_2585delinsCCCT n.2596_2599delinsCCCT | |
2 | g.43877972C>T | CA2658838125 | ABCG8 | c.*59C>T (n.*59C>T) n.2583C>T n.2597C>T | gnomAD v4 |
2 | g.43877976_43877978del | CA769083235 | ABCG8 | c.*63_*65del (n.*63_*65del) n.2587_2589del n.2601_2603del | dbSNP gnomAD v4 |
2 | g.43877973C>A | CA769083236 | ABCG8 | c.*60C>A (n.*60C>A) n.2584C>A n.2598C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877973C= | CA2493965229 | ABCG8 | c.*60C= (n.*60C=) n.2584C= n.2598C= | |
2 | g.43877973C>T | CA2658838126 | ABCG8 | c.*60C>T (n.*60C>T) n.2584C>T n.2598C>T | gnomAD v4 |
2 | g.43877975C>A | CA2658838127 | ABCG8 | c.*62C>A (n.*62C>A) n.2586C>A n.2600C>A | gnomAD v4 |
2 | g.43877975C= | CA2493965230 | ABCG8 | c.*62C= (n.*62C=) n.2586C= n.2600C= | |
2 | g.43877975C>T | CA769083239 | ABCG8 | c.*62C>T (n.*62C>T) n.2586C>T n.2600C>T | dbSNP gnomAD v4 |