Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92718609A>CCA374034157BICD2c.2036T>G (p.Leu679Arg)
c.2117T>G (p.Leu706Arg)
ClinVar dbSNP
9g.92718609A>GCA374034158BICD2c.2036T>C (p.Leu679Pro)
c.2117T>C (p.Leu706Pro)
9g.92718609A>TCA374034160BICD2c.2036T>A (p.Leu679Gln)
c.2117T>A (p.Leu706Gln)
9g.92718610G>ACA466342729BICD2c.2035C>T (p.Leu679=)
c.2116C>T (p.Leu706=)
gnomAD v4
9g.92718610G>CCA374034162BICD2c.2035C>G (p.Leu679Val)
c.2116C>G (p.Leu706Val)
9g.92718610G>TCA374034163BICD2c.2035C>A (p.Leu679Met)
c.2116C>A (p.Leu706Met)
9g.92718611C>ACA374034172BICD2c.2034G>T (p.Lys678Asn)
c.2115G>T (p.Lys705Asn)
9g.92718611C>GCA374034173BICD2c.2034G>C (p.Lys678Asn)
c.2115G>C (p.Lys705Asn)
9g.92718611C>TCA466342732BICD2c.2034G>A (p.Lys678=)
c.2115G>A (p.Lys705=)
9g.92718612T>ACA374034175BICD2c.2033A>T (p.Lys678Met)
c.2114A>T (p.Lys705Met)
9g.92718612T>CCA374034186BICD2c.2033A>G (p.Lys678Arg)
c.2114A>G (p.Lys705Arg)
9g.92718612T>GCA374034187BICD2c.2033A>C (p.Lys678Thr)
c.2114A>C (p.Lys705Thr)
9g.92718613T>ACA374034192BICD2c.2032A>T (p.Lys678Ter)
c.2113A>T (p.Lys705Ter)
9g.92718613T>CCA374034195BICD2c.2032A>G (p.Lys678Glu)
c.2113A>G (p.Lys705Glu)
9g.92718613T>GCA374034206BICD2c.2032A>C (p.Lys678Gln)
c.2113A>C (p.Lys705Gln)
9g.92718614G>ACA466342738BICD2c.2031C>T (p.Leu677=)
c.2112C>T (p.Leu704=)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92718614G>CCA466342737BICD2c.2031C>G (p.Leu677=)
c.2112C>G (p.Leu704=)
9g.92718614G=CA1864360536BICD2c.2031C= (p.Leu677=)
c.2112C= (p.Leu704=)
9g.92718614G>TCA466342736BICD2c.2031C>A (p.Leu677=)
c.2112C>A (p.Leu704=)
9g.92718615A>CCA374034213BICD2c.2030T>G (p.Leu677Arg)
c.2111T>G (p.Leu704Arg)
9g.92718615A>GCA374034210BICD2c.2030T>C (p.Leu677Pro)
c.2111T>C (p.Leu704Pro)
9g.92718615A>TCA374034212BICD2c.2030T>A (p.Leu677His)
c.2111T>A (p.Leu704His)
9g.92718616G>ACA374034216BICD2c.2029C>T (p.Leu677Phe)
c.2110C>T (p.Leu704Phe)
9g.92718616G>CCA374034217BICD2c.2029C>G (p.Leu677Val)
c.2110C>G (p.Leu704Val)
9g.92718616G>TCA374034219BICD2c.2029C>A (p.Leu677Ile)
c.2110C>A (p.Leu704Ile)
9g.92718617G>ACA5126425BICD2c.2028C>T (p.Ile676=)
c.2109C>T (p.Ile703=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92718617G>CCA374034228BICD2c.2028C>G (p.Ile676Met)
c.2109C>G (p.Ile703Met)
dbSNP gnomAD v4
9g.92718617G=CA1864360541BICD2c.2028C= (p.Ile676=)
c.2109C= (p.Ile703=)
9g.92718617G>TCA466342743BICD2c.2028C>A (p.Ile676=)
c.2109C>A (p.Ile703=)
9g.92718618A>CCA374034231BICD2c.2027T>G (p.Ile676Ser)
c.2108T>G (p.Ile703Ser)
9g.92718618A>GCA374034233BICD2c.2027T>C (p.Ile676Thr)
c.2108T>C (p.Ile703Thr)
9g.92718618A>TCA374034236BICD2c.2027T>A (p.Ile676Asn)
c.2108T>A (p.Ile703Asn)
9g.92718619T>ACA374034239BICD2c.2026A>T (p.Ile676Phe)
c.2107A>T (p.Ile703Phe)
9g.92718619T>CCA374034245BICD2c.2026A>G (p.Ile676Val)
c.2107A>G (p.Ile703Val)
9g.92718619T>GCA374034248BICD2c.2026A>C (p.Ile676Leu)
c.2107A>C (p.Ile703Leu)
9g.92718620C>ACA374034250BICD2c.2025G>T (p.Glu675Asp)
c.2106G>T (p.Glu702Asp)
9g.92718620C>GCA374034265BICD2c.2025G>C (p.Glu675Asp)
c.2106G>C (p.Glu702Asp)
9g.92718620C>TCA466342747BICD2c.2025G>A (p.Glu675=)
c.2106G>A (p.Glu702=)
9g.92718621T>ACA374034272BICD2c.2024A>T (p.Glu675Val)
c.2105A>T (p.Glu702Val)
9g.92718621T>CCA374034275BICD2c.2024A>G (p.Glu675Gly)
c.2105A>G (p.Glu702Gly)
9g.92718621T>GCA374034267BICD2c.2024A>C (p.Glu675Ala)
c.2105A>C (p.Glu702Ala)
9g.92718622C>ACA374034282BICD2c.2023G>T (p.Glu675Ter)
c.2104G>T (p.Glu702Ter)
9g.92718622C>GCA374034278BICD2c.2023G>C (p.Glu675Gln)
c.2104G>C (p.Glu702Gln)
9g.92718622C>TCA374034285BICD2c.2023G>A (p.Glu675Lys)
c.2104G>A (p.Glu702Lys)
9g.92718623C>ACA374034289BICD2c.2022G>T (p.Glu674Asp)
c.2103G>T (p.Glu701Asp)
9g.92718623C=CA1864360548BICD2c.2022G= (p.Glu674=)
c.2103G= (p.Glu701=)
9g.92718623C>GCA374034294BICD2c.2022G>C (p.Glu674Asp)
c.2103G>C (p.Glu701Asp)
9g.92718623C>TCA196339757BICD2c.2022G>A (p.Glu674=)
c.2103G>A (p.Glu701=)
dbSNP gnomAD v3 gnomAD v4
9g.92718624T>ACA374034297BICD2c.2021A>T (p.Glu674Val)
c.2102A>T (p.Glu701Val)
9g.92718624T>CCA5126426BICD2c.2021A>G (p.Glu674Gly)
c.2102A>G (p.Glu701Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718624T>GCA374034298BICD2c.2021A>C (p.Glu674Ala)
c.2102A>C (p.Glu701Ala)
9g.92718624T=CA1864360550BICD2c.2021A= (p.Glu674=)
c.2102A= (p.Glu701=)
9g.92718625C>ACA374034299BICD2c.2020G>T (p.Glu674Ter)
c.2101G>T (p.Glu701Ter)
9g.92718625C>GCA374034300BICD2c.2020G>C (p.Glu674Gln)
c.2101G>C (p.Glu701Gln)
9g.92718625C>TCA374034301BICD2c.2020G>A (p.Glu674Lys)
c.2101G>A (p.Glu701Lys)
9g.92718626C>ACA374034303BICD2c.2019G>T (p.Met673Ile)
c.2100G>T (p.Met700Ile)
9g.92718626C>GCA374034305BICD2c.2019G>C (p.Met673Ile)
c.2100G>C (p.Met700Ile)
9g.92718626C>TCA374034324BICD2c.2019G>A (p.Met673Ile)
c.2100G>A (p.Met700Ile)
9g.92718627A>CCA374034325BICD2c.2018T>G (p.Met673Arg)
c.2099T>G (p.Met700Arg)
9g.92718627A>GCA374034326BICD2c.2018T>C (p.Met673Thr)
c.2099T>C (p.Met700Thr)
gnomAD v4
9g.92718627A>TCA374034327BICD2c.2018T>A (p.Met673Lys)
c.2099T>A (p.Met700Lys)
9g.92718628T>ACA374034338BICD2c.2017A>T (p.Met673Leu)
c.2098A>T (p.Met700Leu)
9g.92718628T>CCA374034330BICD2c.2017A>G (p.Met673Val)
c.2098A>G (p.Met700Val)
ClinVar
9g.92718628T>GCA374034332BICD2c.2017A>C (p.Met673Leu)
c.2098A>C (p.Met700Leu)
9g.92718629A>CCA466342752BICD2c.2016T>G (p.Leu672=)
c.2097T>G (p.Leu699=)
9g.92718629A>GCA466342753BICD2c.2016T>C (p.Leu672=)
c.2097T>C (p.Leu699=)
9g.92718629A>TCA466342754BICD2c.2016T>A (p.Leu672=)
c.2097T>A (p.Leu699=)
9g.92718630A=CA1864360554BICD2c.2015T= (p.Leu672=)
c.2096T= (p.Leu699=)
9g.92718630A>CCA374034339BICD2c.2015T>G (p.Leu672Arg)
c.2096T>G (p.Leu699Arg)
9g.92718630A>GCA5126427BICD2c.2015T>C (p.Leu672Pro)
c.2096T>C (p.Leu699Pro)
dbSNP ExAC gnomAD v2
9g.92718630A>TCA374034345BICD2c.2015T>A (p.Leu672His)
c.2096T>A (p.Leu699His)
9g.92718631G>ACA374034347BICD2c.2014C>T (p.Leu672Phe)
c.2095C>T (p.Leu699Phe)
9g.92718631G>CCA374034352BICD2c.2014C>G (p.Leu672Val)
c.2095C>G (p.Leu699Val)
9g.92718631G>TCA374034353BICD2c.2014C>A (p.Leu672Ile)
c.2095C>A (p.Leu699Ile)
9g.92718632C>ACA466342756BICD2c.2013G>T (p.Ala671=)
c.2094G>T (p.Ala698=)
9g.92718632C=CA1864360559BICD2c.2013G= (p.Ala671=)
c.2094G= (p.Ala698=)
9g.92718632C>GCA466342757BICD2c.2013G>C (p.Ala671=)
c.2094G>C (p.Ala698=)
9g.92718632C>TCA5126428BICD2c.2013G>A (p.Ala671=)
c.2094G>A (p.Ala698=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718633G>ACA5126429BICD2c.2012C>T (p.Ala671Val)
c.2093C>T (p.Ala698Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718633G>CCA374034357BICD2c.2012C>G (p.Ala671Gly)
c.2093C>G (p.Ala698Gly)
dbSNP
9g.92718633G=CA1864360569BICD2c.2012C= (p.Ala671=)
c.2093C= (p.Ala698=)
9g.92718633G>TCA374034368BICD2c.2012C>A (p.Ala671Glu)
c.2093C>A (p.Ala698Glu)
9g.92718634C>ACA374034374BICD2c.2011G>T (p.Ala671Ser)
c.2092G>T (p.Ala698Ser)
9g.92718634C=CA1864360573BICD2c.2011G= (p.Ala671=)
c.2092G= (p.Ala698=)
9g.92718634C>GCA374034372BICD2c.2011G>C (p.Ala671Pro)
c.2092G>C (p.Ala698Pro)
9g.92718634C>TCA374034370BICD2c.2011G>A (p.Ala671Thr)
c.2092G>A (p.Ala698Thr)
dbSNP
9g.92718635T>ACA374034375BICD2c.2010A>T (p.Glu670Asp)
c.2091A>T (p.Glu697Asp)
dbSNP gnomAD v2 gnomAD v4
9g.92718635T>CCA466342762BICD2c.2010A>G (p.Glu670=)
c.2091A>G (p.Glu697=)
9g.92718635T>GCA374034390BICD2c.2010A>C (p.Glu670Asp)
c.2091A>C (p.Glu697Asp)
dbSNP gnomAD v4
9g.92718635T=CA1864360582BICD2c.2010A= (p.Glu670=)
c.2091A= (p.Glu697=)
9g.92718636T>ACA374034392BICD2c.2009A>T (p.Glu670Val)
c.2090A>T (p.Glu697Val)
9g.92718636T>CCA374034398BICD2c.2009A>G (p.Glu670Gly)
c.2090A>G (p.Glu697Gly)
9g.92718636T>GCA374034400BICD2c.2009A>C (p.Glu670Ala)
c.2090A>C (p.Glu697Ala)
9g.92718637C>ACA374034403BICD2c.2008G>T (p.Glu670Ter)
c.2089G>T (p.Glu697Ter)
9g.92718637C=CA1864360587BICD2c.2008G= (p.Glu670=)
c.2089G= (p.Glu697=)
9g.92718637C>GCA374034409BICD2c.2008G>C (p.Glu670Gln)
c.2089G>C (p.Glu697Gln)
9g.92718637C>TCA196339794BICD2c.2008G>A (p.Glu670Lys)
c.2089G>A (p.Glu697Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92718638C>ACA374034414BICD2c.2007G>T (p.Lys669Asn)
c.2088G>T (p.Lys696Asn)
9g.92718638C>GCA374034417BICD2c.2007G>C (p.Lys669Asn)
c.2088G>C (p.Lys696Asn)
9g.92718638C>TCA466342763BICD2c.2007G>A (p.Lys669=)
c.2088G>A (p.Lys696=)
gnomAD v4
9g.92718639T>ACA374034420BICD2c.2006A>T (p.Lys669Met)
c.2087A>T (p.Lys696Met)
9g.92718639T>CCA374034432BICD2c.2006A>G (p.Lys669Arg)
c.2087A>G (p.Lys696Arg)
9g.92718639T>GCA374034444BICD2c.2006A>C (p.Lys669Thr)
c.2087A>C (p.Lys696Thr)
9g.92718640T>ACA374034446BICD2c.2005A>T (p.Lys669Ter)
c.2086A>T (p.Lys696Ter)
9g.92718640T>CCA374034448BICD2c.2005A>G (p.Lys669Glu)
c.2086A>G (p.Lys696Glu)
gnomAD v4
9g.92718640T>GCA5126430BICD2c.2005A>C (p.Lys669Gln)
c.2086A>C (p.Lys696Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718640T=CA1864360590BICD2c.2005A= (p.Lys669=)
c.2086A= (p.Lys696=)
9g.92718641G>ACA5126431BICD2c.2004C>T (p.Asp668=)
c.2085C>T (p.Asp695=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718641G>CCA374034450BICD2c.2004C>G (p.Asp668Glu)
c.2085C>G (p.Asp695Glu)
9g.92718641G=CA1864360594BICD2c.2004C= (p.Asp668=)
c.2085C= (p.Asp695=)
9g.92718641G>TCA374034453BICD2c.2004C>A (p.Asp668Glu)
c.2085C>A (p.Asp695Glu)
9g.92718642T>ACA374034457BICD2c.2003A>T (p.Asp668Val)
c.2084A>T (p.Asp695Val)
9g.92718642T>CCA374034460BICD2c.2003A>G (p.Asp668Gly)
c.2084A>G (p.Asp695Gly)
9g.92718642T>GCA374034463BICD2c.2003A>C (p.Asp668Ala)
c.2084A>C (p.Asp695Ala)
9g.92718643C>ACA374034467BICD2c.2002G>T (p.Asp668Tyr)
c.2083G>T (p.Asp695Tyr)
9g.92718643C>GCA374034474BICD2c.2002G>C (p.Asp668His)
c.2083G>C (p.Asp695His)
9g.92718643C>TCA374034479BICD2c.2002G>A (p.Asp668Asn)
c.2083G>A (p.Asp695Asn)
gnomAD v4
9g.92718644C>ACA374034483BICD2c.2001G>T (p.Lys667Asn)
c.2082G>T (p.Lys694Asn)
COSMIC COSMIC
9g.92718644C=CA1864360597BICD2c.2001G= (p.Lys667=)
c.2082G= (p.Lys694=)
9g.92718644C>GCA374034488BICD2c.2001G>C (p.Lys667Asn)
c.2082G>C (p.Lys694Asn)
9g.92718644C>TCA466342769BICD2c.2001G>A (p.Lys667=)
c.2082G>A (p.Lys694=)
dbSNP gnomAD v2 gnomAD v4
9g.92718645T>ACA374034496BICD2c.2000A>T (p.Lys667Met)
c.2081A>T (p.Lys694Met)
9g.92718645T>CCA374034501BICD2c.2000A>G (p.Lys667Arg)
c.2081A>G (p.Lys694Arg)
9g.92718645T>GCA374034491BICD2c.2000A>C (p.Lys667Thr)
c.2081A>C (p.Lys694Thr)
9g.92718646T>ACA374034510BICD2c.1999A>T (p.Lys667Ter)
c.2080A>T (p.Lys694Ter)
9g.92718646T>CCA374034504BICD2c.1999A>G (p.Lys667Glu)
c.2080A>G (p.Lys694Glu)
gnomAD v4
9g.92718646T>GCA374034507BICD2c.1999A>C (p.Lys667Gln)
c.2080A>C (p.Lys694Gln)
9g.92718647G>ACA466342774BICD2c.1998C>T (p.Asp666=)
c.2079C>T (p.Asp693=)
9g.92718647G>CCA374034514BICD2c.1998C>G (p.Asp666Glu)
c.2079C>G (p.Asp693Glu)
9g.92718647G=CA1864360602BICD2c.1998C= (p.Asp666=)
c.2079C= (p.Asp693=)
9g.92718647G>TCA374034517BICD2c.1998C>A (p.Asp666Glu)
c.2079C>A (p.Asp693Glu)
gnomAD v4
9g.92718648_92718653dupCA2832528950BICD2c.1993_1998dup (p.Asp666_Lys667insValAsp)
c.2074_2079dup (p.Asp693_Lys694insValAsp)
9g.92718656_92718715delCA2695201604BICD2c.1939_1998del (p.Arg647_Asp666del)
c.2020_2079del (p.Arg674_Asp693del)
ClinVar
9g.92718648T>ACA374034521BICD2c.1997A>T (p.Asp666Val)
c.2078A>T (p.Asp693Val)
9g.92718648T>CCA374034524BICD2c.1997A>G (p.Asp666Gly)
c.2078A>G (p.Asp693Gly)
gnomAD v4
9g.92718648T>GCA374034525BICD2c.1997A>C (p.Asp666Ala)
c.2078A>C (p.Asp693Ala)
ClinVar dbSNP gnomAD v4
9g.92718648T=CA1864360606BICD2c.1997A= (p.Asp666=)
c.2078A= (p.Asp693=)
9g.92718650_92718651insTTCTCCCA1864360607BICD2c.1997_1998insGAAGGA (p.Val665_Asp666insGluLys)
c.2078_2079insGAAGGA (p.Val692_Asp693insGluLys)
dbSNP
9g.92718649C>ACA374034526BICD2c.1996G>T (p.Asp666Tyr)
c.2077G>T (p.Asp693Tyr)
9g.92718649C>GCA374034527BICD2c.1996G>C (p.Asp666His)
c.2077G>C (p.Asp693His)
9g.92718649C>TCA374034528BICD2c.1996G>A (p.Asp666Asn)
c.2077G>A (p.Asp693Asn)
9g.92718650C>ACA466342779BICD2c.1995G>T (p.Val665=)
c.2076G>T (p.Val692=)
9g.92718650C=CA1864360611BICD2c.1995G= (p.Val665=)
c.2076G= (p.Val692=)
9g.92718650C>GCA466342780BICD2c.1995G>C (p.Val665=)
c.2076G>C (p.Val692=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718650C>TCA466342781BICD2c.1995G>A (p.Val665=)
c.2076G>A (p.Val692=)
9g.92718651A>CCA374034532BICD2c.1994T>G (p.Val665Gly)
c.2075T>G (p.Val692Gly)
9g.92718651A>GCA374034534BICD2c.1994T>C (p.Val665Ala)
c.2075T>C (p.Val692Ala)
9g.92718651A>TCA374034537BICD2c.1994T>A (p.Val665Glu)
c.2075T>A (p.Val692Glu)
9g.92718652C>ACA233053BICD2c.1993G>T (p.Val665Leu)
c.2074G>T (p.Val692Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718652C=CA1864360615BICD2c.1993G= (p.Val665=)
c.2074G= (p.Val692=)
9g.92718652C>GCA374034539BICD2c.1993G>C (p.Val665Leu)
c.2074G>C (p.Val692Leu)
9g.92718652C>TCA5126432BICD2c.1993G>A (p.Val665Met)
c.2074G>A (p.Val692Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718653G>ACA5126433BICD2c.1992C>T (p.Ala664=)
c.2073C>T (p.Ala691=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718653G>CCA466342785BICD2c.1992C>G (p.Ala664=)
c.2073C>G (p.Ala691=)
9g.92718653G=CA1864360619BICD2c.1992C= (p.Ala664=)
c.2073C= (p.Ala691=)
9g.92718653G>TCA466342786BICD2c.1992C>A (p.Ala664=)
c.2073C>A (p.Ala691=)
9g.92718654G>ACA374034542BICD2c.1991C>T (p.Ala664Val)
c.2072C>T (p.Ala691Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718654G>CCA374034543BICD2c.1991C>G (p.Ala664Gly)
c.2072C>G (p.Ala691Gly)
9g.92718654G=CA1864360620BICD2c.1991C= (p.Ala664=)
c.2072C= (p.Ala691=)
9g.92718654G>TCA374034546BICD2c.1991C>A (p.Ala664Asp)
c.2072C>A (p.Ala691Asp)
9g.92718655C>ACA374034553BICD2c.1990G>T (p.Ala664Ser)
c.2071G>T (p.Ala691Ser)
9g.92718655C=CA1864360621BICD2c.1990G= (p.Ala664=)
c.2071G= (p.Ala691=)
9g.92718655C>GCA374034562BICD2c.1990G>C (p.Ala664Pro)
c.2071G>C (p.Ala691Pro)
9g.92718655C>TCA5126434BICD2c.1990G>A (p.Ala664Thr)
c.2071G>A (p.Ala691Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92718656G>ACA5126435BICD2c.1989C>T (p.Pro663=)
c.2070C>T (p.Pro690=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718656G>CCA466342791BICD2c.1989C>G (p.Pro663=)
c.2070C>G (p.Pro690=)
9g.92718656G=CA1864360623BICD2c.1989C= (p.Pro663=)
c.2070C= (p.Pro690=)
9g.92718656G>TCA466342792BICD2c.1989C>A (p.Pro663=)
c.2070C>A (p.Pro690=)
9g.92718657G>ACA374034566BICD2c.1988C>T (p.Pro663Leu)
c.2069C>T (p.Pro690Leu)
dbSNP gnomAD v2 gnomAD v4
9g.92718657G>CCA374034573BICD2c.1988C>G (p.Pro663Arg)
c.2069C>G (p.Pro690Arg)
9g.92718657G=CA1864360629BICD2c.1988C= (p.Pro663=)
c.2069C= (p.Pro690=)
9g.92718657G>TCA374034576BICD2c.1988C>A (p.Pro663His)
c.2069C>A (p.Pro690His)
COSMIC COSMIC
9g.92718658G>ACA5126436BICD2c.1987C>T (p.Pro663Ser)
c.2068C>T (p.Pro690Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718658G>CCA374034590BICD2c.1987C>G (p.Pro663Ala)
c.2068C>G (p.Pro690Ala)
9g.92718658G=CA1864360633BICD2c.1987C= (p.Pro663=)
c.2068C= (p.Pro690=)
9g.92718658G>TCA374034580BICD2c.1987C>A (p.Pro663Thr)
c.2068C>A (p.Pro690Thr)
9g.92718659G>ACA466342793BICD2c.1986C>T (p.Gly662=)
c.2067C>T (p.Gly689=)
dbSNP gnomAD v4
9g.92718659G>CCA466342794BICD2c.1986C>G (p.Gly662=)
c.2067C>G (p.Gly689=)
9g.92718659G=CA1864360636BICD2c.1986C= (p.Gly662=)
c.2067C= (p.Gly689=)
9g.92718659G>TCA466342795BICD2c.1986C>A (p.Gly662=)
c.2067C>A (p.Gly689=)
9g.92718660C>ACA374034593BICD2c.1985G>T (p.Gly662Val)
c.2066G>T (p.Gly689Val)
dbSNP gnomAD v2 gnomAD v4
9g.92718660C=CA1864360638BICD2c.1985G= (p.Gly662=)
c.2066G= (p.Gly689=)
9g.92718660C>GCA374034595BICD2c.1985G>C (p.Gly662Ala)
c.2066G>C (p.Gly689Ala)
9g.92718660C>TCA374034605BICD2c.1985G>A (p.Gly662Asp)
c.2066G>A (p.Gly689Asp)
9g.92718661C>ACA374034609BICD2c.1984G>T (p.Gly662Cys)
c.2065G>T (p.Gly689Cys)
9g.92718661C>GCA374034611BICD2c.1984G>C (p.Gly662Arg)
c.2065G>C (p.Gly689Arg)
9g.92718661C>TCA374034612BICD2c.1984G>A (p.Gly662Ser)
c.2065G>A (p.Gly689Ser)
9g.92718662C>ACA466342798BICD2c.1983G>T (p.Leu661=)
c.2064G>T (p.Leu688=)
9g.92718662C=CA1864360640BICD2c.1983G= (p.Leu661=)
c.2064G= (p.Leu688=)
9g.92718662C>GCA466342799BICD2c.1983G>C (p.Leu661=)
c.2064G>C (p.Leu688=)
9g.92718662C>TCA466342800BICD2c.1983G>A (p.Leu661=)
c.2064G>A (p.Leu688=)
dbSNP gnomAD v2 gnomAD v4
9g.92718663A>CCA374034617BICD2c.1982T>G (p.Leu661Arg)
c.2063T>G (p.Leu688Arg)
9g.92718663A>GCA374034618BICD2c.1982T>C (p.Leu661Pro)
c.2063T>C (p.Leu688Pro)
9g.92718663A>TCA374034621BICD2c.1982T>A (p.Leu661Gln)
c.2063T>A (p.Leu688Gln)
9g.92718664G>ACA466342801BICD2c.1981C>T (p.Leu661=)
c.2062C>T (p.Leu688=)
gnomAD v4
9g.92718664G>CCA374034623BICD2c.1981C>G (p.Leu661Val)
c.2062C>G (p.Leu688Val)
9g.92718664G>TCA374034625BICD2c.1981C>A (p.Leu661Met)
c.2062C>A (p.Leu688Met)
9g.92718665C>ACA374034626BICD2c.1980G>T (p.Glu660Asp)
c.2061G>T (p.Glu687Asp)
gnomAD v4
9g.92718665C>GCA374034627BICD2c.1980G>C (p.Glu660Asp)
c.2061G>C (p.Glu687Asp)
9g.92718665C>TCA466342803BICD2c.1980G>A (p.Glu660=)
c.2061G>A (p.Glu687=)
gnomAD v4
9g.92718666T>ACA374034630BICD2c.1979A>T (p.Glu660Val)
c.2060A>T (p.Glu687Val)
9g.92718666T>CCA374034631BICD2c.1979A>G (p.Glu660Gly)
c.2060A>G (p.Glu687Gly)
9g.92718666T>GCA374034629BICD2c.1979A>C (p.Glu660Ala)
c.2060A>C (p.Glu687Ala)
dbSNP
9g.92718666T=CA1864360643BICD2c.1979A= (p.Glu660=)
c.2060A= (p.Glu687=)
9g.92718667C>ACA374034633BICD2c.1978G>T (p.Glu660Ter)
c.2059G>T (p.Glu687Ter)
9g.92718667C=CA1864360647BICD2c.1978G= (p.Glu660=)
c.2059G= (p.Glu687=)
9g.92718667C>GCA374034635BICD2c.1978G>C (p.Glu660Gln)
c.2059G>C (p.Glu687Gln)
9g.92718667C>TCA374034636BICD2c.1978G>A (p.Glu660Lys)
c.2059G>A (p.Glu687Lys)
ClinVar dbSNP
9g.92718668C>ACA374034638BICD2c.1977G>T (p.Gln659His)
c.2058G>T (p.Gln686His)
9g.92718668C=CA1864360650BICD2c.1977G= (p.Gln659=)
c.2058G= (p.Gln686=)
9g.92718668C>GCA374034639BICD2c.1977G>C (p.Gln659His)
c.2058G>C (p.Gln686His)
9g.92718668C>TCA466342804BICD2c.1977G>A (p.Gln659=)
c.2058G>A (p.Gln686=)
dbSNP gnomAD v3 gnomAD v4
9g.92718669T>ACA374034644BICD2c.1976A>T (p.Gln659Leu)
c.2057A>T (p.Gln686Leu)
9g.92718669T>CCA374034643BICD2c.1976A>G (p.Gln659Arg)
c.2057A>G (p.Gln686Arg)
9g.92718669T>GCA374034640BICD2c.1976A>C (p.Gln659Pro)
c.2057A>C (p.Gln686Pro)
9g.92718670G>ACA374034647BICD2c.1975C>T (p.Gln659Ter)
c.2056C>T (p.Gln686Ter)
9g.92718670G>CCA5126437BICD2c.1975C>G (p.Gln659Glu)
c.2056C>G (p.Gln686Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718670G=CA1864360652BICD2c.1975C= (p.Gln659=)
c.2056C= (p.Gln686=)
9g.92718670G>TCA374034651BICD2c.1975C>A (p.Gln659Lys)
c.2056C>A (p.Gln686Lys)
9g.92718671A>CCA466342807BICD2c.1974T>G (p.Ser658=)
c.2055T>G (p.Ser685=)
dbSNP gnomAD v4
9g.92718671A>GCA466342808BICD2c.1974T>C (p.Ser658=)
c.2055T>C (p.Ser685=)
9g.92718671A>TCA466342809BICD2c.1974T>A (p.Ser658=)
c.2055T>A (p.Ser685=)
9g.92718672G>ACA374034652BICD2c.1973C>T (p.Ser658Phe)
c.2054C>T (p.Ser685Phe)
dbSNP gnomAD v3 gnomAD v4
9g.92718672G>CCA374034653BICD2c.1973C>G (p.Ser658Cys)
c.2054C>G (p.Ser685Cys)
9g.92718672G=CA1864360656BICD2c.1973C= (p.Ser658=)
c.2054C= (p.Ser685=)
9g.92718672G>TCA374034654BICD2c.1973C>A (p.Ser658Tyr)
c.2054C>A (p.Ser685Tyr)
9g.92718673A>CCA374034657BICD2c.1972T>G (p.Ser658Ala)
c.2053T>G (p.Ser685Ala)
9g.92718673A>GCA374034656BICD2c.1972T>C (p.Ser658Pro)
c.2053T>C (p.Ser685Pro)
9g.92718673A>TCA374034655BICD2c.1972T>A (p.Ser658Thr)
c.2053T>A (p.Ser685Thr)
9g.92718674G>ACA466342811BICD2c.1971C>T (p.Ala657=)
c.2052C>T (p.Ala684=)
gnomAD v4
9g.92718674G>CCA466342812BICD2c.1971C>G (p.Ala657=)
c.2052C>G (p.Ala684=)
9g.92718674G>TCA466342813BICD2c.1971C>A (p.Ala657=)
c.2052C>A (p.Ala684=)
9g.92718675G>ACA374034659BICD2c.1970C>T (p.Ala657Val)
c.2051C>T (p.Ala684Val)
gnomAD v4
9g.92718675G>CCA374034663BICD2c.1970C>G (p.Ala657Gly)
c.2051C>G (p.Ala684Gly)
9g.92718675G>TCA374034661BICD2c.1970C>A (p.Ala657Asp)
c.2051C>A (p.Ala684Asp)
9g.92718676C>ACA374034664BICD2c.1969G>T (p.Ala657Ser)
c.2050G>T (p.Ala684Ser)
9g.92718676C>GCA374034667BICD2c.1969G>C (p.Ala657Pro)
c.2050G>C (p.Ala684Pro)
gnomAD v4
9g.92718676C>TCA374034666BICD2c.1969G>A (p.Ala657Thr)
c.2050G>A (p.Ala684Thr)
gnomAD v4
9g.92718677A>CCA374034669BICD2c.1968T>G (p.Ile656Met)
c.2049T>G (p.Ile683Met)
9g.92718677A>GCA466342818BICD2c.1968T>C (p.Ile656=)
c.2049T>C (p.Ile683=)
9g.92718677A>TCA466342817BICD2c.1968T>A (p.Ile656=)
c.2049T>A (p.Ile683=)
9g.92718678A>CCA374034671BICD2c.1967T>G (p.Ile656Ser)
c.2048T>G (p.Ile683Ser)
9g.92718678A>GCA374034672BICD2c.1967T>C (p.Ile656Thr)
c.2048T>C (p.Ile683Thr)
gnomAD v4
9g.92718678A>TCA374034675BICD2c.1967T>A (p.Ile656Asn)
c.2048T>A (p.Ile683Asn)
9g.92718679T>ACA374034676BICD2c.1966A>T (p.Ile656Phe)
c.2047A>T (p.Ile683Phe)
9g.92718679T>CCA374034677BICD2c.1966A>G (p.Ile656Val)
c.2047A>G (p.Ile683Val)
gnomAD v4
9g.92718679T>GCA374034678BICD2c.1966A>C (p.Ile656Leu)
c.2047A>C (p.Ile683Leu)
9g.92718680G>ACA466342820BICD2c.1965C>T (p.Arg655=)
c.2046C>T (p.Arg682=)
9g.92718680G>CCA466342821BICD2c.1965C>G (p.Arg655=)
c.2046C>G (p.Arg682=)
9g.92718680G>TCA466342822BICD2c.1965C>A (p.Arg655=)
c.2046C>A (p.Arg682=)
9g.92718681C>ACA374034679BICD2c.1964G>T (p.Arg655Leu)
c.2045G>T (p.Arg682Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92718681C=CA1864360662BICD2c.1964G= (p.Arg655=)
c.2045G= (p.Arg682=)
9g.92718681C>GCA374034680BICD2c.1964G>C (p.Arg655Pro)
c.2045G>C (p.Arg682Pro)
9g.92718681C>TCA5126438BICD2c.1964G>A (p.Arg655His)
c.2045G>A (p.Arg682His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92718682G>ACA5126439BICD2c.1963C>T (p.Arg655Cys)
c.2044C>T (p.Arg682Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718682G>CCA374034682BICD2c.1963C>G (p.Arg655Gly)
c.2044C>G (p.Arg682Gly)
9g.92718682G=CA1864360672BICD2c.1963C= (p.Arg655=)
c.2044C= (p.Arg682=)
9g.92718682G>TCA374034681BICD2c.1963C>A (p.Arg655Ser)
c.2044C>A (p.Arg682Ser)
9g.92718683C>ACA374034683BICD2c.1962G>T (p.Gln654His)
c.2043G>T (p.Gln681His)
COSMIC COSMIC
9g.92718683C=CA1864360678BICD2c.1962G= (p.Gln654=)
c.2043G= (p.Gln681=)
9g.92718683C>GCA374034685BICD2c.1962G>C (p.Gln654His)
c.2043G>C (p.Gln681His)
9g.92718683C>TCA5126440BICD2c.1962G>A (p.Gln654=)
c.2043G>A (p.Gln681=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718684T>ACA374034687BICD2c.1961A>T (p.Gln654Leu)
c.2042A>T (p.Gln681Leu)
9g.92718684T>CCA374034689BICD2c.1961A>G (p.Gln654Arg)
c.2042A>G (p.Gln681Arg)
9g.92718684T>GCA374034690BICD2c.1961A>C (p.Gln654Pro)
c.2042A>C (p.Gln681Pro)
9g.92718685G>ACA374034691BICD2c.1960C>T (p.Gln654Ter)
c.2041C>T (p.Gln681Ter)
9g.92718685G>CCA374034692BICD2c.1960C>G (p.Gln654Glu)
c.2041C>G (p.Gln681Glu)
9g.92718685G>TCA374034693BICD2c.1960C>A (p.Gln654Lys)
c.2041C>A (p.Gln681Lys)
9g.92718686G>ACA466342827BICD2c.1959C>T (p.Arg653=)
c.2040C>T (p.Arg680=)
dbSNP
9g.92718686G>CCA466342829BICD2c.1959C>G (p.Arg653=)
c.2040C>G (p.Arg680=)
ClinVar dbSNP gnomAD v4
9g.92718686G=CA1864360687BICD2c.1959C= (p.Arg653=)
c.2040C= (p.Arg680=)
9g.92718686G>TCA466342826BICD2c.1959C>A (p.Arg653=)
c.2040C>A (p.Arg680=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718687C>ACA374034695BICD2c.1958G>T (p.Arg653Leu)
c.2039G>T (p.Arg680Leu)
9g.92718687C=CA1864360693BICD2c.1958G= (p.Arg653=)
c.2039G= (p.Arg680=)
9g.92718687C>GCA374034699BICD2c.1958G>C (p.Arg653Pro)
c.2039G>C (p.Arg680Pro)
9g.92718687C>TCA5126441BICD2c.1958G>A (p.Arg653His)
c.2039G>A (p.Arg680His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718688G>ACA5126442BICD2c.1957C>T (p.Arg653Cys)
c.2038C>T (p.Arg680Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718688G>CCA374034705BICD2c.1957C>G (p.Arg653Gly)
c.2038C>G (p.Arg680Gly)
gnomAD v4
9g.92718688G=CA1864360695BICD2c.1957C= (p.Arg653=)
c.2038C= (p.Arg680=)
9g.92718688G>TCA374034702BICD2c.1957C>A (p.Arg653Ser)
c.2038C>A (p.Arg680Ser)
9g.92718689T>ACA466342832BICD2c.1956A>T (p.Ser652=)
c.2037A>T (p.Ser679=)
9g.92718689T>CCA466342833BICD2c.1956A>G (p.Ser652=)
c.2037A>G (p.Ser679=)
dbSNP gnomAD v4
9g.92718689T>GCA466342834BICD2c.1956A>C (p.Ser652=)
c.2037A>C (p.Ser679=)
dbSNP
9g.92718689T=CA1864360698BICD2c.1956A= (p.Ser652=)
c.2037A= (p.Ser679=)
9g.92718690G>ACA374034709BICD2c.1955C>T (p.Ser652Leu)
c.2036C>T (p.Ser679Leu)
9g.92718690G>CCA374034720BICD2c.1955C>G (p.Ser652Ter)
c.2036C>G (p.Ser679Ter)
9g.92718690G>TCA374034721BICD2c.1955C>A (p.Ser652Ter)
c.2036C>A (p.Ser679Ter)
9g.92718691A>CCA374034722BICD2c.1954T>G (p.Ser652Ala)
c.2035T>G (p.Ser679Ala)
9g.92718691A>GCA374034723BICD2c.1954T>C (p.Ser652Pro)
c.2035T>C (p.Ser679Pro)
9g.92718691A>TCA374034725BICD2c.1954T>A (p.Ser652Thr)
c.2035T>A (p.Ser679Thr)
9g.92718692C>ACA5126444BICD2c.1953G>T (p.Leu651=)
c.2034G>T (p.Leu678=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718692C=CA1864360701BICD2c.1953G= (p.Leu651=)
c.2034G= (p.Leu678=)
9g.92718692C>GCA5126443BICD2c.1953G>C (p.Leu651=)
c.2034G>C (p.Leu678=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718692C>TCA466342839BICD2c.1953G>A (p.Leu651=)
c.2034G>A (p.Leu678=)
9g.92718693A>CCA374034727BICD2c.1952T>G (p.Leu651Arg)
c.2033T>G (p.Leu678Arg)
9g.92718693A>GCA374034728BICD2c.1952T>C (p.Leu651Pro)
c.2033T>C (p.Leu678Pro)
9g.92718693A>TCA374034729BICD2c.1952T>A (p.Leu651Gln)
c.2033T>A (p.Leu678Gln)
gnomAD v4
9g.92718694G>ACA466342843BICD2c.1951C>T (p.Leu651=)
c.2032C>T (p.Leu678=)
9g.92718694G>CCA374034732BICD2c.1951C>G (p.Leu651Val)
c.2032C>G (p.Leu678Val)
9g.92718694G>TCA374034738BICD2c.1951C>A (p.Leu651Met)
c.2032C>A (p.Leu678Met)
9g.92718695C>ACA374034753BICD2c.1950G>T (p.Glu650Asp)
c.2031G>T (p.Glu677Asp)
9g.92718695C=CA1864360705BICD2c.1950G= (p.Glu650=)
c.2031G= (p.Glu677=)
9g.92718695C>GCA374034741BICD2c.1950G>C (p.Glu650Asp)
c.2031G>C (p.Glu677Asp)
9g.92718695C>TCA466342844BICD2c.1950G>A (p.Glu650=)
c.2031G>A (p.Glu677=)
dbSNP
9g.92718696T>ACA374034756BICD2c.1949A>T (p.Glu650Val)
c.2030A>T (p.Glu677Val)
9g.92718696T>CCA5126445BICD2c.1949A>G (p.Glu650Gly)
c.2030A>G (p.Glu677Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718696T>GCA374034758BICD2c.1949A>C (p.Glu650Ala)
c.2030A>C (p.Glu677Ala)
9g.92718696T=CA1864360709BICD2c.1949A= (p.Glu650=)
c.2030A= (p.Glu677=)
9g.92718697C>ACA374034759BICD2c.1948G>T (p.Glu650Ter)
c.2029G>T (p.Glu677Ter)
9g.92718697C=CA1864360711BICD2c.1948G= (p.Glu650=)
c.2029G= (p.Glu677=)
9g.92718697C>GCA374034761BICD2c.1948G>C (p.Glu650Gln)
c.2029G>C (p.Glu677Gln)
9g.92718697C>TCA374034762BICD2c.1948G>A (p.Glu650Lys)
c.2029G>A (p.Glu677Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718698C>ACA466342846BICD2c.1947G>T (p.Thr649=)
c.2028G>T (p.Thr676=)
9g.92718698C=CA1864360715BICD2c.1947G= (p.Thr649=)
c.2028G= (p.Thr676=)
9g.92718698C>GCA466342847BICD2c.1947G>C (p.Thr649=)
c.2028G>C (p.Thr676=)
dbSNP
9g.92718698C>TCA5126446BICD2c.1947G>A (p.Thr649=)
c.2028G>A (p.Thr676=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718699G>ACA5126447BICD2c.1946C>T (p.Thr649Met)
c.2027C>T (p.Thr676Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718699G>CCA374034770BICD2c.1946C>G (p.Thr649Arg)
c.2027C>G (p.Thr676Arg)
9g.92718699G=CA1864360718BICD2c.1946C= (p.Thr649=)
c.2027C= (p.Thr676=)
9g.92718699G>TCA374034772BICD2c.1946C>A (p.Thr649Lys)
c.2027C>A (p.Thr676Lys)
9g.92718700T>ACA374034776BICD2c.1945A>T (p.Thr649Ser)
c.2026A>T (p.Thr676Ser)
9g.92718700T>CCA374034779BICD2c.1945A>G (p.Thr649Ala)
c.2026A>G (p.Thr676Ala)
9g.92718700T>GCA374034781BICD2c.1945A>C (p.Thr649Pro)
c.2026A>C (p.Thr676Pro)
9g.92718701G>ACA466342849BICD2c.1944C>T (p.Thr648=)
c.2025C>T (p.Thr675=)
gnomAD v4
9g.92718701G>CCA466342850BICD2c.1944C>G (p.Thr648=)
c.2025C>G (p.Thr675=)
9g.92718701G>TCA466342851BICD2c.1944C>A (p.Thr648=)
c.2025C>A (p.Thr675=)
dbSNP
9g.92718702G>ACA374034790BICD2c.1943C>T (p.Thr648Ile)
c.2024C>T (p.Thr675Ile)
dbSNP
9g.92718702G>CCA374034788BICD2c.1943C>G (p.Thr648Ser)
c.2024C>G (p.Thr675Ser)
9g.92718702G=CA1864360723BICD2c.1943C= (p.Thr648=)
c.2024C= (p.Thr675=)
9g.92718702G>TCA374034785BICD2c.1943C>A (p.Thr648Asn)
c.2024C>A (p.Thr675Asn)
9g.92718703T>ACA374034792BICD2c.1942A>T (p.Thr648Ser)
c.2023A>T (p.Thr675Ser)
9g.92718703T>CCA374034794BICD2c.1942A>G (p.Thr648Ala)
c.2023A>G (p.Thr675Ala)
9g.92718703T>GCA374034796BICD2c.1942A>C (p.Thr648Pro)
c.2023A>C (p.Thr675Pro)
9g.92718704G>ACA466342854BICD2c.1941C>T (p.Arg647=)
c.2022C>T (p.Arg674=)
9g.92718704G>CCA466342855BICD2c.1941C>G (p.Arg647=)
c.2022C>G (p.Arg674=)
9g.92718704G>TCA466342856BICD2c.1941C>A (p.Arg647=)
c.2022C>A (p.Arg674=)
9g.92718705C>ACA374034801BICD2c.1940G>T (p.Arg647Leu)
c.2021G>T (p.Arg674Leu)
9g.92718705C=CA1864360727BICD2c.1940G= (p.Arg647=)
c.2021G= (p.Arg674=)
9g.92718705C>GCA374034803BICD2c.1940G>C (p.Arg647Pro)
c.2021G>C (p.Arg674Pro)
9g.92718705C>TCA5126448BICD2c.1940G>A (p.Arg647His)
c.2021G>A (p.Arg674His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718706G>ACA374034812BICD2c.1939C>T (p.Arg647Cys)
c.2020C>T (p.Arg674Cys)
dbSNP gnomAD v2 gnomAD v4
9g.92718706G>CCA374034808BICD2c.1939C>G (p.Arg647Gly)
c.2020C>G (p.Arg674Gly)
9g.92718706G=CA1864360729BICD2c.1939C= (p.Arg647=)
c.2020C= (p.Arg674=)
9g.92718706G>TCA374034810BICD2c.1939C>A (p.Arg647Ser)
c.2020C>A (p.Arg674Ser)
9g.92718707G>ACA466342859BICD2c.1938C>T (p.Asp646=)
c.2019C>T (p.Asp673=)
9g.92718707G>CCA374034814BICD2c.1938C>G (p.Asp646Glu)
c.2019C>G (p.Asp673Glu)
9g.92718707G>TCA374034815BICD2c.1938C>A (p.Asp646Glu)
c.2019C>A (p.Asp673Glu)
9g.92718708T>ACA374034816BICD2c.1937A>T (p.Asp646Val)
c.2018A>T (p.Asp673Val)
9g.92718708T>CCA374034817BICD2c.1937A>G (p.Asp646Gly)
c.2018A>G (p.Asp673Gly)
9g.92718708T>GCA374034818BICD2c.1937A>C (p.Asp646Ala)
c.2018A>C (p.Asp673Ala)
9g.92718709C>ACA374034823BICD2c.1936G>T (p.Asp646Tyr)
c.2017G>T (p.Asp673Tyr)
9g.92718709C>GCA374034821BICD2c.1936G>C (p.Asp646His)
c.2017G>C (p.Asp673His)
9g.92718709C>TCA374034822BICD2c.1936G>A (p.Asp646Asn)
c.2017G>A (p.Asp673Asn)

Number of alleles fetched