Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.49457793G>ACA450608789MMUTc.651C>T (p.Ile217=)
dbSNP
6g.49457793G>CCA364404278MMUTc.651C>G (p.Ile217Met)
6g.49457793G=CA1627395162MMUTc.651C= (p.Ile217=)
6g.49457793G>TCA450608790MMUTc.651C>A (p.Ile217=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457794A=CA1627395169MMUTc.650T= (p.Ile217=)
6g.49457794A>CCA364404279MMUTc.650T>G (p.Ile217Ser)
6g.49457794A>GCA364404280MMUTc.650T>C (p.Ile217Thr)
dbSNP gnomAD v2 gnomAD v4
6g.49457794A>TCA364404281MMUTc.650T>A (p.Ile217Asn)
6g.49457795T>ACA364404282MMUTc.649A>T (p.Ile217Phe)
6g.49457795T>CCA364404283MMUTc.649A>G (p.Ile217Val)
6g.49457795T>GCA364404284MMUTc.649A>C (p.Ile217Leu)
6g.49457796G>ACA3847077MMUTc.648C>T (p.Thr216=)
ClinVar dbSNP ExAC gnomAD v2
6g.49457796G>CCA450608791MMUTc.648C>G (p.Thr216=)
6g.49457796G=CA1627395171MMUTc.648C= (p.Thr216=)
6g.49457796G>TCA450608792MMUTc.648C>A (p.Thr216=)
6g.49457797G>ACA364404285MMUTc.647C>T (p.Thr216Ile)
6g.49457797G>CCA364404286MMUTc.647C>G (p.Thr216Ser)
6g.49457797G=CA1627395174MMUTc.647C= (p.Thr216=)
6g.49457797G>TCA364404287MMUTc.647C>A (p.Thr216Asn)
ClinVar dbSNP
6g.49457798T>ACA364404288MMUTc.646A>T (p.Thr216Ser)
6g.49457798T>CCA364404289MMUTc.646A>G (p.Thr216Ala)
6g.49457798T>GCA364404290MMUTc.646A>C (p.Thr216Pro)
6g.49457799A>CCA450608795MMUTc.645T>G (p.Gly215=)
6g.49457799A>GCA450608794MMUTc.645T>C (p.Gly215=)
ClinVar
6g.49457799A>TCA450608793MMUTc.645T>A (p.Gly215=)
6g.49457800C>ACA364404292MMUTc.644G>T (p.Gly215Val)
6g.49457800C=CA1627395179MMUTc.644G= (p.Gly215=)
6g.49457800C>GCA364404291MMUTc.644G>C (p.Gly215Ala)
6g.49457800C>TCA3847078MMUTc.644G>A (p.Gly215Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457801C>ACA16618294MMUTc.643G>T (p.Gly215Cys)
ClinVar dbSNP gnomAD v4
6g.49457801C=CA1627395185MMUTc.643G= (p.Gly215=)
6g.49457801C>GCA364404293MMUTc.643G>C (p.Gly215Arg)
6g.49457801C>TCA249733MMUTc.643G>A (p.Gly215Ser)
ClinVar dbSNP gnomAD v4
6g.49457802A=CA1627395194MMUTc.642T= (p.Thr214=)
6g.49457802A>CCA450608796MMUTc.642T>G (p.Thr214=)
dbSNP gnomAD v3 gnomAD v4
6g.49457802A>GCA450608797MMUTc.642T>C (p.Thr214=)
gnomAD v4
6g.49457802A>TCA450608798MMUTc.642T>A (p.Thr214=)
ClinVar dbSNP
6g.49457803G>ACA364404294MMUTc.641C>T (p.Thr214Ile)
6g.49457803G>CCA364404295MMUTc.641C>G (p.Thr214Ser)
6g.49457803G>TCA364404296MMUTc.641C>A (p.Thr214Asn)
6g.49457804T>ACA364404297MMUTc.640A>T (p.Thr214Ser)
6g.49457804T>CCA138799637MMUTc.640A>G (p.Thr214Ala)
dbSNP
6g.49457804T>GCA364404298MMUTc.640A>C (p.Thr214Pro)
6g.49457804T=CA1627395198MMUTc.640A= (p.Thr214=)
6g.49457805A>CCA450608799MMUTc.639T>G (p.Leu213=)
6g.49457805A>GCA450608801MMUTc.639T>C (p.Leu213=)
6g.49457805A>TCA450608800MMUTc.639T>A (p.Leu213=)
6g.49457806A>CCA364404299MMUTc.638T>G (p.Leu213Arg)
6g.49457806A>GCA364404300MMUTc.638T>C (p.Leu213Pro)
6g.49457806A>TCA364404301MMUTc.638T>A (p.Leu213His)
6g.49457807G>ACA364404302MMUTc.637C>T (p.Leu213Phe)
6g.49457807G>CCA3847079MMUTc.637C>G (p.Leu213Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457807G=CA1627395202MMUTc.637C= (p.Leu213=)
6g.49457807G>TCA364404303MMUTc.637C>A (p.Leu213Ile)
6g.49457808C>ACA364404304MMUTc.636G>T (p.Lys212Asn)
6g.49457808C=CA347880MMUTc.636G= (p.Lys212=)
6g.49457808C>GCA364404305MMUTc.636G>C (p.Lys212Asn)
6g.49457808C>TCA285337MMUTc.636G>A (p.Lys212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457809T>ACA364404306MMUTc.635A>T (p.Lys212Met)
6g.49457809T>CCA138799653MMUTc.635A>G (p.Lys212Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457809T>GCA364404307MMUTc.635A>C (p.Lys212Thr)
6g.49457809T=CA1627395214MMUTc.635A= (p.Lys212=)
6g.49457810T>ACA364404308MMUTc.634A>T (p.Lys212Ter)
6g.49457810T>CCA364404309MMUTc.634A>G (p.Lys212Glu)
6g.49457810T>GCA364404310MMUTc.634A>C (p.Lys212Gln)
6g.49457811C>ACA364404311MMUTc.633G>T (p.Glu211Asp)
dbSNP gnomAD v3 gnomAD v4
6g.49457811C=CA1627395219MMUTc.633G= (p.Glu211=)
6g.49457811C>GCA3847080MMUTc.633G>C (p.Glu211Asp)
dbSNP ExAC gnomAD v2
6g.49457811C>TCA450608802MMUTc.633G>A (p.Glu211=)
6g.49457811_49457813delCA913187321MMUTc.631_633del (p.Glu211del)
6g.49457812T>ACA364404312MMUTc.632A>T (p.Glu211Val)
6g.49457812T>CCA3847081MMUTc.632A>G (p.Glu211Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457812T>GCA364404313MMUTc.632A>C (p.Glu211Ala)
6g.49457812T=CA1627395222MMUTc.632A= (p.Glu211=)
6g.49457813C>ACA364404315MMUTc.631G>T (p.Glu211Ter)
6g.49457813C>GCA364404316MMUTc.631G>C (p.Glu211Gln)
6g.49457813C>TCA364404314MMUTc.631G>A (p.Glu211Lys)
6g.49457813_49457814delinsCTCA1627395226MMUTc.630_631delinsAG (p.Lys210=)
6g.49457814T>ACA364404317MMUTc.630A>T (p.Lys210Asn)
6g.49457814T>CCA450608803MMUTc.630A>G (p.Lys210=)
6g.49457814T>GCA364404318MMUTc.630A>C (p.Lys210Asn)
6g.49457816delCA10575879MMUTc.630del (p.Glu211ArgfsTer12)
ClinVar dbSNP gnomAD v4
6g.49457815T>ACA364404319MMUTc.629A>T (p.Lys210Ile)
6g.49457815T>CCA364404320MMUTc.629A>G (p.Lys210Arg)
6g.49457815T>GCA364404321MMUTc.629A>C (p.Lys210Thr)
6g.49457816T>ACA364404322MMUTc.628A>T (p.Lys210Ter)
6g.49457816T>CCA138799678MMUTc.628A>G (p.Lys210Glu)
dbSNP gnomAD v3 gnomAD v4
6g.49457816T>GCA364404323MMUTc.628A>C (p.Lys210Gln)
6g.49457816T=CA1627395235MMUTc.628A= (p.Lys210=)
6g.49457817A=CA1627395239MMUTc.627T= (p.Pro209=)
6g.49457817A>CCA3847082MMUTc.627T>G (p.Pro209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457817A>GCA450608804MMUTc.627T>C (p.Pro209=)
ClinVar
6g.49457817A>TCA450608805MMUTc.627T>A (p.Pro209=)
6g.49457818G>ACA364404324MMUTc.626C>T (p.Pro209Leu)
6g.49457818G>CCA364404325MMUTc.626C>G (p.Pro209Arg)
6g.49457818G>TCA364404326MMUTc.626C>A (p.Pro209His)
6g.49457819dupCA825482501MMUTc.626dup (p.Lys210Ter)
ClinVar dbSNP
6g.49457819G>ACA3847083MMUTc.625C>T (p.Pro209Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457819G>CCA364404328MMUTc.625C>G (p.Pro209Ala)
6g.49457819G=CA1627395242MMUTc.625C= (p.Pro209=)
6g.49457819G>TCA364404327MMUTc.625C>A (p.Pro209Thr)
6g.49457820T>ACA450608806MMUTc.624A>T (p.Val208=)
6g.49457820T>CCA450608807MMUTc.624A>G (p.Val208=)
gnomAD v4
6g.49457820T>GCA450608808MMUTc.624A>C (p.Val208=)
6g.49457820_49457821delCA2578675208MMUTc.623_624del (p.Val208AlafsTer2)
gnomAD v4
6g.49457821A>CCA364404329MMUTc.623T>G (p.Val208Gly)
6g.49457821A>GCA364404331MMUTc.623T>C (p.Val208Ala)
COSMIC
6g.49457821A>TCA364404330MMUTc.623T>A (p.Val208Glu)
6g.49457821_49457822delinsACCA1627395246MMUTc.622_623delinsGT (p.Val208=)
6g.49457822delCA915944263MMUTc.622del (p.Val208TyrfsTer15)
ClinVar dbSNP gnomAD v4
6g.49457822C>ACA364404332MMUTc.622G>T (p.Val208Leu)
dbSNP gnomAD v2 gnomAD v4
6g.49457822C=CA1627395253MMUTc.622G= (p.Val208=)
6g.49457822C>GCA364404333MMUTc.622G>C (p.Val208Leu)
6g.49457822C>TCA364404334MMUTc.622G>A (p.Val208Ile)
6g.49457823A>CCA450608809MMUTc.621T>G (p.Gly207=)
ClinVar dbSNP
6g.49457823A>GCA450608810MMUTc.621T>C (p.Gly207=)
6g.49457823A>TCA450608811MMUTc.621T>A (p.Gly207=)
6g.49457824C>ACA3847084MMUTc.620G>T (p.Gly207Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457824C=CA1627395256MMUTc.620G= (p.Gly207=)
6g.49457824C>GCA364404335MMUTc.620G>C (p.Gly207Ala)
6g.49457824C>TCA364404336MMUTc.620G>A (p.Gly207Asp)
gnomAD v4
6g.49457825C>ACA364404337MMUTc.619G>T (p.Gly207Cys)
6g.49457825C=CA1627395257MMUTc.619G= (p.Gly207=)
6g.49457825C>GCA3847085MMUTc.619G>C (p.Gly207Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457825C>TCA364404338MMUTc.619G>A (p.Gly207Ser)
gnomAD v4
6g.49457826T>ACA364404339MMUTc.618A>T (p.Gln206His)
6g.49457826T>CCA450608812MMUTc.618A>G (p.Gln206=)
6g.49457826T>GCA364404340MMUTc.618A>C (p.Gln206His)
6g.49457827T>ACA364404343MMUTc.617A>T (p.Gln206Leu)
6g.49457827T>CCA364404342MMUTc.617A>G (p.Gln206Arg)
6g.49457827T>GCA364404341MMUTc.617A>C (p.Gln206Pro)
6g.49457828G>ACA364404344MMUTc.616C>T (p.Gln206Ter)
6g.49457828G>CCA364404345MMUTc.616C>G (p.Gln206Glu)
6g.49457828G>TCA364404346MMUTc.616C>A (p.Gln206Lys)
6g.49457828_49457831delinsGTTCCA1627395258MMUTc.613_616delinsGAAC (p.Glu205=)
6g.49457829T>ACA364404347MMUTc.615A>T (p.Glu205Asp)
6g.49457829T>CCA3847086MMUTc.615A>G (p.Glu205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457829T>GCA364404348MMUTc.615A>C (p.Glu205Asp)
6g.49457829T=CA1627395263MMUTc.615A= (p.Glu205=)
6g.49457833_49457835delCA10575880MMUTc.613_615del (p.Glu205del)
ClinVar dbSNP
6g.49457830T>ACA364404349MMUTc.614A>T (p.Glu205Val)
6g.49457830T>CCA364404350MMUTc.614A>G (p.Glu205Gly)
6g.49457830T>GCA364404351MMUTc.614A>C (p.Glu205Ala)
6g.49457831C>ACA364404352MMUTc.613G>T (p.Glu205Ter)
COSMIC
6g.49457831C>GCA364404353MMUTc.613G>C (p.Glu205Gln)
6g.49457831C>TCA364404354MMUTc.613G>A (p.Glu205Lys)
ClinVar gnomAD v4
6g.49457832T>ACA364404355MMUTc.612A>T (p.Glu204Asp)
6g.49457832T>CCA450608813MMUTc.612A>G (p.Glu204=)
6g.49457832T>GCA364404356MMUTc.612A>C (p.Glu204Asp)
6g.49457833T>ACA364404357MMUTc.611A>T (p.Glu204Val)
6g.49457833T>CCA364404358MMUTc.611A>G (p.Glu204Gly)
6g.49457833T>GCA364404359MMUTc.611A>C (p.Glu204Ala)
6g.49457834C>ACA364404360MMUTc.610G>T (p.Glu204Ter)
gnomAD v4
6g.49457834C=CA1627395264MMUTc.610G= (p.Glu204=)
6g.49457834C>GCA364404361MMUTc.610G>C (p.Glu204Gln)
6g.49457834C>TCA364404362MMUTc.610G>A (p.Glu204Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457835T>ACA450608816MMUTc.609A>T (p.Gly203=)
6g.49457835T>CCA450608814MMUTc.609A>G (p.Gly203=)
dbSNP
6g.49457835T>GCA450608815MMUTc.609A>C (p.Gly203=)
6g.49457835T=CA1627395265MMUTc.609A= (p.Gly203=)
6g.49457836C>ACA364404363MMUTc.608G>T (p.Gly203Val)
6g.49457836C>GCA364404364MMUTc.608G>C (p.Gly203Ala)
6g.49457836C>TCA364404365MMUTc.608G>A (p.Gly203Glu)
6g.49457837C>ACA364404366MMUTc.607G>T (p.Gly203Ter)
6g.49457837C=CA1627395266MMUTc.607G= (p.Gly203=)
6g.49457837C>GCA364404367MMUTc.607G>C (p.Gly203Arg)
6g.49457837C>TCA347872MMUTc.607G>A (p.Gly203Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457838A>CCA450608819MMUTc.606T>G (p.Thr202=)
6g.49457838A>GCA450608818MMUTc.606T>C (p.Thr202=)
6g.49457838A>TCA450608817MMUTc.606T>A (p.Thr202=)
6g.49457839G>ACA3847087MMUTc.605C>T (p.Thr202Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457839G>CCA364404369MMUTc.605C>G (p.Thr202Ser)
6g.49457839G=CA1627395267MMUTc.605C= (p.Thr202=)
6g.49457839G>TCA364404368MMUTc.605C>A (p.Thr202Asn)
6g.49457840T>ACA364404370MMUTc.604A>T (p.Thr202Ser)
6g.49457840T>CCA364404371MMUTc.604A>G (p.Thr202Ala)
6g.49457840T>GCA364404372MMUTc.604A>C (p.Thr202Pro)
6g.49457841delCA2578675209MMUTc.604del (p.Thr202LeufsTer21)
6g.49457841T>ACA450608820MMUTc.603A>T (p.Val201=)
6g.49457841T>CCA450608822MMUTc.603A>G (p.Val201=)
gnomAD v4
6g.49457841T>GCA450608821MMUTc.603A>C (p.Val201=)
6g.49457842A>CCA364404373MMUTc.602T>G (p.Val201Gly)
6g.49457842A>GCA364404374MMUTc.602T>C (p.Val201Ala)
6g.49457842A>TCA364404375MMUTc.602T>A (p.Val201Glu)
6g.49457843C>ACA364404376MMUTc.601G>T (p.Val201Leu)
dbSNP gnomAD v4
6g.49457843C=CA1627395268MMUTc.601G= (p.Val201=)
6g.49457843C>GCA364404378MMUTc.601G>C (p.Val201Leu)
6g.49457843C>TCA364404377MMUTc.601G>A (p.Val201Ile)
6g.49457844T>ACA450608823MMUTc.600A>T (p.Ile200=)
6g.49457844T>CCA364404379MMUTc.600A>G (p.Ile200Met)
dbSNP gnomAD v3 gnomAD v4
6g.49457844T>GCA450608824MMUTc.600A>C (p.Ile200=)
6g.49457844T=CA1627395269MMUTc.600A= (p.Ile200=)
6g.49457845A>CCA364404380MMUTc.599T>G (p.Ile200Arg)
6g.49457845A>GCA364404381MMUTc.599T>C (p.Ile200Thr)
ClinVar
6g.49457845A>TCA364404382MMUTc.599T>A (p.Ile200Lys)
6g.49457846T>ACA364404383MMUTc.598A>T (p.Ile200Leu)
6g.49457846T>CCA3847088MMUTc.598A>G (p.Ile200Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457846T>GCA364404384MMUTc.598A>C (p.Ile200Leu)
6g.49457846T=CA1627395270MMUTc.598A= (p.Ile200=)
6g.49457847A=CA1627395271MMUTc.597T= (p.Phe199=)
6g.49457847A>CCA364404385MMUTc.597T>G (p.Phe199Leu)
6g.49457847A>GCA450608825MMUTc.597T>C (p.Phe199=)
6g.49457847A>TCA364404386MMUTc.597T>A (p.Phe199Leu)
dbSNP
6g.49457848A>CCA364404387MMUTc.596T>G (p.Phe199Cys)
6g.49457848A>GCA364404389MMUTc.596T>C (p.Phe199Ser)
6g.49457848A>TCA364404388MMUTc.596T>A (p.Phe199Tyr)
6g.49457849A>CCA364404390MMUTc.595T>G (p.Phe199Val)
ClinVar dbSNP gnomAD v4
6g.49457849A>GCA364404391MMUTc.595T>C (p.Phe199Leu)
6g.49457849A>TCA364404392MMUTc.595T>A (p.Phe199Ile)
6g.49457850A>CCA364404393MMUTc.594T>G (p.Asn198Lys)
6g.49457850A>GCA450608826MMUTc.594T>C (p.Asn198=)
6g.49457850A>TCA364404394MMUTc.594T>A (p.Asn198Lys)
6g.49457851T>ACA364404395MMUTc.593A>T (p.Asn198Ile)
6g.49457851T>CCA364404396MMUTc.593A>G (p.Asn198Ser)
6g.49457851T>GCA364404397MMUTc.593A>C (p.Asn198Thr)
6g.49457853delCA2695206685MMUTc.593del (p.Asn198IlefsTer3)
6g.49457852T>ACA364404398MMUTc.592A>T (p.Asn198Tyr)
6g.49457852T>CCA364404399MMUTc.592A>G (p.Asn198Asp)
6g.49457852T>GCA364404400MMUTc.592A>C (p.Asn198His)
6g.49457853T>ACA450608827MMUTc.591A>T (p.Ala197=)
6g.49457853T>CCA450608828MMUTc.591A>G (p.Ala197=)
6g.49457853T>GCA450608829MMUTc.591A>C (p.Ala197=)
6g.49457854G>ACA364404401MMUTc.590C>T (p.Ala197Val)
dbSNP
6g.49457854G>CCA364404403MMUTc.590C>G (p.Ala197Gly)
6g.49457854G=CA1627395272MMUTc.590C= (p.Ala197=)
6g.49457854G>TCA364404402MMUTc.590C>A (p.Ala197Glu)
ClinVar
6g.49457855C>ACA364404404MMUTc.589G>T (p.Ala197Ser)
6g.49457855C>GCA364404405MMUTc.589G>C (p.Ala197Pro)
6g.49457855C>TCA364404406MMUTc.589G>A (p.Ala197Thr)
6g.49457856A=CA1627395273MMUTc.588T= (p.Leu196=)
6g.49457856A>CCA450608830MMUTc.588T>G (p.Leu196=)
6g.49457856A>GCA450608831MMUTc.588T>C (p.Leu196=)
dbSNP
6g.49457856A>TCA450608832MMUTc.588T>A (p.Leu196=)
6g.49457857A>CCA364404407MMUTc.587T>G (p.Leu196Arg)
6g.49457857A>GCA364404408MMUTc.587T>C (p.Leu196Pro)
6g.49457857A>TCA364404409MMUTc.587T>A (p.Leu196His)
6g.49457858G>ACA364404410MMUTc.586C>T (p.Leu196Phe)
6g.49457858G>CCA364404411MMUTc.586C>G (p.Leu196Val)
6g.49457858G=CA1627395274MMUTc.586C= (p.Leu196=)
6g.49457858G>TCA138799757MMUTc.586C>A (p.Leu196Ile)
dbSNP
6g.49457859A>CCA450608833MMUTc.585T>G (p.Val195=)
6g.49457859A>GCA450608834MMUTc.585T>C (p.Val195=)
6g.49457859A>TCA450608835MMUTc.585T>A (p.Val195=)
6g.49457860A>CCA364404413MMUTc.584T>G (p.Val195Gly)
6g.49457860A>GCA364404414MMUTc.584T>C (p.Val195Ala)
6g.49457860A>TCA364404412MMUTc.584T>A (p.Val195Asp)
6g.49457861C>ACA364404415MMUTc.583G>T (p.Val195Phe)
6g.49457861C>GCA364404416MMUTc.583G>C (p.Val195Leu)
gnomAD v4
6g.49457861C>TCA364404417MMUTc.583G>A (p.Val195Ile)
gnomAD v4
6g.49457862T>ACA450608838MMUTc.582A>T (p.Pro194=)
6g.49457862T>CCA450608837MMUTc.582A>G (p.Pro194=)
6g.49457862T>GCA450608836MMUTc.582A>C (p.Pro194=)
6g.49457863G>ACA364404418MMUTc.581C>T (p.Pro194Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457863G>CCA364404419MMUTc.581C>G (p.Pro194Arg)
6g.49457863G=CA1627395275MMUTc.581C= (p.Pro194=)
6g.49457863G>TCA364404420MMUTc.581C>A (p.Pro194Gln)
6g.49457864G>ACA364404421MMUTc.580C>T (p.Pro194Ser)
gnomAD v4
6g.49457864G>CCA3847089MMUTc.580C>G (p.Pro194Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457864G=CA1627395276MMUTc.580C= (p.Pro194=)
6g.49457864G>TCA364404422MMUTc.580C>A (p.Pro194Thr)
6g.49457865A>CCA364404423MMUTc.579T>G (p.Ile193Met)
6g.49457865A>GCA450608839MMUTc.579T>C (p.Ile193=)
6g.49457865A>TCA450608840MMUTc.579T>A (p.Ile193=)
6g.49457866A>CCA364404424MMUTc.578T>G (p.Ile193Ser)
6g.49457866A>GCA364404425MMUTc.578T>C (p.Ile193Thr)
6g.49457866A>TCA364404426MMUTc.578T>A (p.Ile193Asn)
6g.49457867T>ACA364404427MMUTc.577A>T (p.Ile193Phe)
6g.49457867T>CCA364404429MMUTc.577A>G (p.Ile193Val)
6g.49457867T>GCA364404428MMUTc.577A>C (p.Ile193Leu)
6g.49457868A>CCA450608583MMUTc.576T>G (p.Val192=)
6g.49457868A>GCA450608585MMUTc.576T>C (p.Val192=)
6g.49457868A>TCA450608584MMUTc.576T>A (p.Val192=)
6g.49457869A>CCA364404430MMUTc.575T>G (p.Val192Gly)
6g.49457869A>GCA364404431MMUTc.575T>C (p.Val192Ala)
6g.49457869A>TCA364404432MMUTc.575T>A (p.Val192Asp)
6g.49457870C>ACA364404433MMUTc.574G>T (p.Val192Phe)
6g.49457870C=CA1627395277MMUTc.574G= (p.Val192=)
6g.49457870C>GCA364404434MMUTc.574G>C (p.Val192Leu)
6g.49457870C>TCA364404435MMUTc.574G>A (p.Val192Ile)
dbSNP
6g.49457871T>ACA450608586MMUTc.573A>T (p.Ala191=)
6g.49457871T>CCA138799761MMUTc.573A>G (p.Ala191=)
ClinVar dbSNP
6g.49457871T>GCA450608587MMUTc.573A>C (p.Ala191=)
ClinVar dbSNP
6g.49457871T=CA1627395278MMUTc.573A= (p.Ala191=)
6g.49457872G>ACA364404436MMUTc.572C>T (p.Ala191Val)
ClinVar dbSNP
6g.49457872G>CCA364404437MMUTc.572C>G (p.Ala191Gly)
gnomAD v4
6g.49457872G=CA1627395279MMUTc.572C= (p.Ala191=)
6g.49457872G>TCA312777MMUTc.572C>A (p.Ala191Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457873C>ACA364404438MMUTc.571G>T (p.Ala191Ser)
ClinVar
6g.49457873C=CA1627395281MMUTc.571G= (p.Ala191=)
6g.49457873C>GCA364404439MMUTc.571G>C (p.Ala191Pro)
6g.49457873C>TCA364404440MMUTc.571G>A (p.Ala191Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457874T>ACA450608588MMUTc.570A>T (p.Gly190=)
6g.49457874T>CCA450608589MMUTc.570A>G (p.Gly190=)
dbSNP gnomAD v4
6g.49457874T>GCA450608590MMUTc.570A>C (p.Gly190=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.49457874T=CA1627395282MMUTc.570A= (p.Gly190=)
6g.49457875C>ACA364404442MMUTc.569G>T (p.Gly190Val)
6g.49457875C>GCA364404443MMUTc.569G>C (p.Gly190Ala)
6g.49457875C>TCA364404441MMUTc.569G>A (p.Gly190Glu)
6g.49457876C>ACA364404444MMUTc.568G>T (p.Gly190Ter)
6g.49457876C>GCA364404445MMUTc.568G>C (p.Gly190Arg)
6g.49457876C>TCA364404446MMUTc.568G>A (p.Gly190Arg)
6g.49457877A=CA1627395283MMUTc.567T= (p.Asn189=)
6g.49457877A>CCA364404447MMUTc.567T>G (p.Asn189Lys)
ClinVar dbSNP
6g.49457877A>GCA450608591MMUTc.567T>C (p.Asn189=)
dbSNP
6g.49457877A>TCA364404448MMUTc.567T>A (p.Asn189Lys)
6g.49457877dupCA2695206686MMUTc.567dup (p.Gly190TrpfsTer21)
6g.49457878T>ACA3847091MMUTc.566A>T (p.Asn189Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457878T>CCA3847090MMUTc.566A>G (p.Asn189Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457878T>GCA364404449MMUTc.566A>C (p.Asn189Thr)
6g.49457878T=CA1627395284MMUTc.566A= (p.Asn189=)
6g.49457879T>ACA364404450MMUTc.565A>T (p.Asn189Tyr)
6g.49457879T>CCA364404451MMUTc.565A>G (p.Asn189Asp)
6g.49457879T>GCA364404452MMUTc.565A>C (p.Asn189His)
6g.49457880C>ACA364404453MMUTc.564G>T (p.Met188Ile)
6g.49457880C>GCA364404454MMUTc.564G>C (p.Met188Ile)
gnomAD v4
6g.49457880C>TCA364404455MMUTc.564G>A (p.Met188Ile)
6g.49457881A>CCA364404458MMUTc.563T>G (p.Met188Arg)
gnomAD v4
6g.49457881A>GCA364404456MMUTc.563T>C (p.Met188Thr)
6g.49457881A>TCA364404457MMUTc.563T>A (p.Met188Lys)
6g.49457882T>ACA364404459MMUTc.562A>T (p.Met188Leu)
6g.49457882T>CCA364404460MMUTc.562A>G (p.Met188Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457882T>GCA364404461MMUTc.562A>C (p.Met188Leu)
dbSNP gnomAD v2 gnomAD v4
6g.49457882T=CA1627395285MMUTc.562A= (p.Met188=)
6g.49457883A=CA1627395286MMUTc.561T= (p.Thr187=)
6g.49457883A>CCA3847092MMUTc.561T>G (p.Thr187=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457883A>GCA450608592MMUTc.561T>C (p.Thr187=)
6g.49457883A>TCA450608593MMUTc.561T>A (p.Thr187=)
6g.49457884G>ACA364404462MMUTc.560C>T (p.Thr187Ile)
6g.49457884G>CCA10575881MMUTc.560C>G (p.Thr187Ser)
ClinVar dbSNP
6g.49457884G=CA1627395287MMUTc.560C= (p.Thr187=)
6g.49457884G>TCA364404463MMUTc.560C>A (p.Thr187Asn)
6g.49457885T>ACA364404464MMUTc.559A>T (p.Thr187Ser)
6g.49457885T>CCA364404465MMUTc.559A>G (p.Thr187Ala)
6g.49457885T>GCA364404466MMUTc.559A>C (p.Thr187Pro)
6g.49457886C>ACA364404467MMUTc.558G>T (p.Met186Ile)
6g.49457886C>GCA364404468MMUTc.558G>C (p.Met186Ile)
6g.49457886C>TCA364404469MMUTc.558G>A (p.Met186Ile)
6g.49457887A>CCA364404470MMUTc.557T>G (p.Met186Arg)
6g.49457887A>GCA364404472MMUTc.557T>C (p.Met186Thr)
COSMIC
6g.49457887A>TCA364404471MMUTc.557T>A (p.Met186Lys)
6g.49457888T>ACA364404473MMUTc.556A>T (p.Met186Leu)
gnomAD v4
6g.49457888T>CCA3847093MMUTc.556A>G (p.Met186Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457888T>GCA364404474MMUTc.556A>C (p.Met186Leu)
6g.49457888T=CA1627395292MMUTc.556A= (p.Met186=)
6g.49457889G>ACA450608595MMUTc.555C>T (p.Ser185=)
6g.49457889G>CCA450608596MMUTc.555C>G (p.Ser185=)
6g.49457889G>TCA450608594MMUTc.555C>A (p.Ser185=)
6g.49457890G>ACA364404475MMUTc.554C>T (p.Ser185Phe)
6g.49457890G>CCA364404476MMUTc.554C>G (p.Ser185Cys)
6g.49457890G>TCA364404477MMUTc.554C>A (p.Ser185Tyr)
6g.49457891A>CCA364404478MMUTc.553T>G (p.Ser185Ala)
6g.49457891A>GCA364404479MMUTc.553T>C (p.Ser185Pro)
6g.49457891A>TCA364404480MMUTc.553T>A (p.Ser185Thr)
6g.49457892_49457893dupCA2695206687MMUTc.552_553dup (p.Ser185PhefsTer3)
6g.49457892A>CCA450608599MMUTc.552T>G (p.Val184=)
6g.49457892A>GCA450608598MMUTc.552T>C (p.Val184=)
6g.49457892A>TCA450608597MMUTc.552T>A (p.Val184=)
6g.49457893A>CCA364404481MMUTc.551T>G (p.Val184Gly)
6g.49457893A>GCA364404482MMUTc.551T>C (p.Val184Ala)
6g.49457893A>TCA364404483MMUTc.551T>A (p.Val184Asp)

Number of alleles fetched