Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24290904_24290955delCA2677515139DCDC2c.682_704+29del
gnomAD v4
6g.24290947A>CCA363280163DCDC2c.689T>G (p.Met230Arg)
gnomAD v4
6g.24290947A>GCA363280166DCDC2c.689T>C (p.Met230Thr)
6g.24290947A>TCA363280194DCDC2c.689T>A (p.Met230Lys)
6g.24290948T>ACA363280197DCDC2c.688A>T (p.Met230Leu)
6g.24290948T>CCA363280199DCDC2c.688A>G (p.Met230Val)
gnomAD v4
6g.24290948T>GCA363280202DCDC2c.688A>C (p.Met230Leu)
6g.24290949C>ACA448951168DCDC2c.687G>T (p.Thr229=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24290949C=CA1616446753DCDC2c.687G= (p.Thr229=)
6g.24290949C>GCA448951169DCDC2c.687G>C (p.Thr229=)
dbSNP
6g.24290949C>TCA3654696DCDC2c.687G>A (p.Thr229=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.24290950G>ACA3654697DCDC2c.686C>T (p.Thr229Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290950G>CCA363280210DCDC2c.686C>G (p.Thr229Arg)
6g.24290950G=CA1616446758DCDC2c.686C= (p.Thr229=)
6g.24290950G>TCA363280214DCDC2c.686C>A (p.Thr229Lys)
6g.24290951T>ACA363280217DCDC2c.685A>T (p.Thr229Ser)
6g.24290951T>CCA136636018DCDC2c.685A>G (p.Thr229Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24290951T>GCA363280219DCDC2c.685A>C (p.Thr229Pro)
6g.24290951T=CA1616446762DCDC2c.685A= (p.Thr229=)
6g.24290952T>ACA448951170DCDC2c.684A>T (p.Ser228=)
6g.24290952T>CCA448951171DCDC2c.684A>G (p.Ser228=)
6g.24290952T>GCA448951172DCDC2c.684A>C (p.Ser228=)
6g.24290953G>ACA363280223DCDC2c.683C>T (p.Ser228Leu)
6g.24290953G>CCA363280226DCDC2c.683C>G (p.Ser228Ter)
6g.24290953G>TCA363280231DCDC2c.683C>A (p.Ser228Ter)
gnomAD v4
6g.24290954A>CCA363280232DCDC2c.682T>G (p.Ser228Ala)
6g.24290954A>GCA363280234DCDC2c.682T>C (p.Ser228Pro)
6g.24290954A>TCA363280236DCDC2c.682T>A (p.Ser228Thr)
6g.24290955C>ACA363280238DCDC2c.681G>T (p.Lys227Asn)
6g.24290955C=CA1616446769DCDC2c.681G= (p.Lys227=)
6g.24290955C>GCA136636019DCDC2c.681G>C (p.Lys227Asn)
dbSNP gnomAD v4
6g.24290955C>TCA448951173DCDC2c.681G>A (p.Lys227=)
6g.24290956T>ACA363280239DCDC2c.680A>T (p.Lys227Met)
dbSNP
6g.24290956T>CCA363280240DCDC2c.680A>G (p.Lys227Arg)
6g.24290956T>GCA363280241DCDC2c.680A>C (p.Lys227Thr)
gnomAD v4
6g.24290956T=CA1616446779DCDC2c.680A= (p.Lys227=)
6g.24290957T>ACA363280248DCDC2c.679A>T (p.Lys227Ter)
6g.24290957T>CCA363280247DCDC2c.679A>G (p.Lys227Glu)
6g.24290957T>GCA363280244DCDC2c.679A>C (p.Lys227Gln)
6g.24290958G>ACA448951174DCDC2c.678C>T (p.Asp226=)
gnomAD v4
6g.24290958G>CCA363280255DCDC2c.678C>G (p.Asp226Glu)
6g.24290958G=CA1616446785DCDC2c.678C= (p.Asp226=)
6g.24290958G>TCA363280257DCDC2c.678C>A (p.Asp226Glu)
dbSNP gnomAD v3 gnomAD v4
6g.24290959T>ACA363280260DCDC2c.677A>T (p.Asp226Val)
6g.24290959T>CCA363280262DCDC2c.677A>G (p.Asp226Gly)
dbSNP gnomAD v3 gnomAD v4
6g.24290959T>GCA363280264DCDC2c.677A>C (p.Asp226Ala)
6g.24290959T=CA1616446791DCDC2c.677A= (p.Asp226=)
6g.24290960C>ACA363280266DCDC2c.676G>T (p.Asp226Tyr)
6g.24290960C>GCA363280268DCDC2c.676G>C (p.Asp226His)
6g.24290960C>TCA363280270DCDC2c.676G>A (p.Asp226Asn)
6g.24290961A>CCA363280272DCDC2c.675T>G (p.Phe225Leu)
6g.24290961A>GCA448951175DCDC2c.675T>C (p.Phe225=)
gnomAD v4
6g.24290961A>TCA363280275DCDC2c.675T>A (p.Phe225Leu)
6g.24290962A>CCA363280276DCDC2c.674T>G (p.Phe225Cys)
6g.24290962A>GCA363280278DCDC2c.674T>C (p.Phe225Ser)
6g.24290962A>TCA363280279DCDC2c.674T>A (p.Phe225Tyr)
6g.24290963A>CCA363280284DCDC2c.673T>G (p.Phe225Val)
6g.24290963A>GCA363280286DCDC2c.673T>C (p.Phe225Leu)
6g.24290963A>TCA363280282DCDC2c.673T>A (p.Phe225Ile)
6g.24290964A>CCA448951178DCDC2c.672T>G (p.Leu224=)
6g.24290964A>GCA448951177DCDC2c.672T>C (p.Leu224=)
6g.24290964A>TCA448951176DCDC2c.672T>A (p.Leu224=)
6g.24290965A>CCA363280288DCDC2c.671T>G (p.Leu224Arg)
6g.24290965A>GCA363280293DCDC2c.671T>C (p.Leu224Pro)
6g.24290965A>TCA363280290DCDC2c.671T>A (p.Leu224His)
6g.24290966G>ACA363280295DCDC2c.670C>T (p.Leu224Phe)
6g.24290966G>CCA363280298DCDC2c.670C>G (p.Leu224Val)
6g.24290966G>TCA363280296DCDC2c.670C>A (p.Leu224Ile)
6g.24290967T>ACA363280300DCDC2c.669A>T (p.Leu223Phe)
6g.24290967T>CCA448951179DCDC2c.669A>G (p.Leu223=)
6g.24290967T>GCA363280302DCDC2c.669A>C (p.Leu223Phe)
6g.24290968A>CCA363280303DCDC2c.668T>G (p.Leu223Ter)
6g.24290968A>GCA363280305DCDC2c.668T>C (p.Leu223Ser)
COSMIC
6g.24290968A>TCA363280309DCDC2c.668T>A (p.Leu223Ter)
gnomAD v4
6g.24290969A>CCA363280312DCDC2c.667T>G (p.Leu223Val)
6g.24290969A>GCA448951180DCDC2c.667T>C (p.Leu223=)
6g.24290969A>TCA363280313DCDC2c.667T>A (p.Leu223Ile)
6g.24290970C>ACA363280315DCDC2c.666G>T (p.Glu222Asp)
6g.24290970C>GCA363280316DCDC2c.666G>C (p.Glu222Asp)
COSMIC
6g.24290970C>TCA448951181DCDC2c.666G>A (p.Glu222=)
gnomAD v4
6g.24290971T>ACA363280321DCDC2c.665A>T (p.Glu222Val)
6g.24290971T>CCA363280320DCDC2c.665A>G (p.Glu222Gly)
6g.24290971T>GCA363280317DCDC2c.665A>C (p.Glu222Ala)
6g.24290972C>ACA363280323DCDC2c.664G>T (p.Glu222Ter)
6g.24290972C>GCA363280324DCDC2c.664G>C (p.Glu222Gln)
6g.24290972C>TCA363280326DCDC2c.664G>A (p.Glu222Lys)
gnomAD v4
6g.24290973A>CCA363280328DCDC2c.663T>G (p.Ser221Arg)
6g.24290973A>GCA448951182DCDC2c.663T>C (p.Ser221=)
6g.24290973A>TCA363280330DCDC2c.663T>A (p.Ser221Arg)
6g.24290974C>ACA363280333DCDC2c.662G>T (p.Ser221Ile)
6g.24290974C=CA1616446799DCDC2c.662G= (p.Ser221=)
6g.24290974C>GCA363280335DCDC2c.662G>C (p.Ser221Thr)
6g.24290974C>TCA363280336DCDC2c.662G>A (p.Ser221Asn)
ClinVar dbSNP COSMIC
6g.24290975T>ACA363280337DCDC2c.661A>T (p.Ser221Cys)
dbSNP
6g.24290975T>CCA3654698DCDC2c.661A>G (p.Ser221Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290975T>GCA363280338DCDC2c.661A>C (p.Ser221Arg)
dbSNP gnomAD v4
6g.24290975T=CA1616446814DCDC2c.661A= (p.Ser221=)
6g.24290975_24290976delinsCACA2580074237DCDC2c.660_661delinsTG (p.Ser221Gly)
ClinVar
6g.24290976G>ACA3654699DCDC2c.660C>T (p.Tyr220=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290976G>CCA363280343DCDC2c.660C>G (p.Tyr220Ter)
gnomAD v4
6g.24290976G=CA1616446820DCDC2c.660C= (p.Tyr220=)
6g.24290976G>TCA363280340DCDC2c.660C>A (p.Tyr220Ter)
6g.24290977T>ACA363280346DCDC2c.659A>T (p.Tyr220Phe)
6g.24290977T>CCA363280348DCDC2c.659A>G (p.Tyr220Cys)
gnomAD v4
6g.24290977T>GCA363280350DCDC2c.659A>C (p.Tyr220Ser)
6g.24290978A>CCA363280353DCDC2c.658T>G (p.Tyr220Asp)
6g.24290978A>GCA363280354DCDC2c.658T>C (p.Tyr220His)
6g.24290978A>TCA363280355DCDC2c.658T>A (p.Tyr220Asn)
6g.24290979A>CCA448951183DCDC2c.657T>G (p.Pro219=)
6g.24290979A>GCA448951184DCDC2c.657T>C (p.Pro219=)
6g.24290979A>TCA448951185DCDC2c.657T>A (p.Pro219=)
6g.24290980G>ACA3654700DCDC2c.656C>T (p.Pro219Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290980G>CCA363280356DCDC2c.656C>G (p.Pro219Arg)
gnomAD v4
6g.24290980G=CA1616446823DCDC2c.656C= (p.Pro219=)
6g.24290980G>TCA363280357DCDC2c.656C>A (p.Pro219His)
6g.24290981G>ACA363280358DCDC2c.655C>T (p.Pro219Ser)
6g.24290981G>CCA363280359DCDC2c.655C>G (p.Pro219Ala)
6g.24290981G>TCA363280360DCDC2c.655C>A (p.Pro219Thr)
6g.24290982C>ACA448951186DCDC2c.654G>T (p.Leu218=)
6g.24290982C>GCA448951187DCDC2c.654G>C (p.Leu218=)
6g.24290982C>TCA448951188DCDC2c.654G>A (p.Leu218=)
gnomAD v4
6g.24290983A>CCA363280363DCDC2c.653T>G (p.Leu218Arg)
6g.24290983A>GCA363280361DCDC2c.653T>C (p.Leu218Pro)
gnomAD v4
6g.24290983A>TCA363280362DCDC2c.653T>A (p.Leu218Gln)
6g.24290984G>ACA448951189DCDC2c.652C>T (p.Leu218=)
6g.24290984G>CCA363280365DCDC2c.652C>G (p.Leu218Val)
6g.24290984G>TCA363280367DCDC2c.652C>A (p.Leu218Met)
6g.24290985T>ACA363280368DCDC2c.651A>T (p.Lys217Asn)
6g.24290985T>CCA448951190DCDC2c.651A>G (p.Lys217=)
6g.24290985T>GCA363280371DCDC2c.651A>C (p.Lys217Asn)
6g.24290986T>ACA363280373DCDC2c.650A>T (p.Lys217Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24290986T>CCA363280375DCDC2c.650A>G (p.Lys217Arg)
COSMIC
6g.24290986T>GCA363280377DCDC2c.650A>C (p.Lys217Thr)
6g.24290986T=CA1616446827DCDC2c.650A= (p.Lys217=)
6g.24290987T>ACA185948DCDC2c.649A>T (p.Lys217Ter)
ClinVar dbSNP
6g.24290987T>CCA363280381DCDC2c.649A>G (p.Lys217Glu)
6g.24290987T>GCA363280383DCDC2c.649A>C (p.Lys217Gln)
6g.24290987T=CA1616446833DCDC2c.649A= (p.Lys217=)
6g.24290988C>ACA363280385DCDC2c.648G>T (p.Lys216Asn)
COSMIC
6g.24290988C>GCA363280387DCDC2c.648G>C (p.Lys216Asn)
6g.24290988C>TCA448951191DCDC2c.648G>A (p.Lys216=)
6g.24290989T>ACA363280392DCDC2c.647A>T (p.Lys216Met)
6g.24290989T>CCA363280394DCDC2c.647A>G (p.Lys216Arg)
6g.24290989T>GCA363280389DCDC2c.647A>C (p.Lys216Thr)
6g.24290990T>ACA363280399DCDC2c.646A>T (p.Lys216Ter)
6g.24290990T>CCA3654701DCDC2c.646A>G (p.Lys216Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24290990T>GCA363280398DCDC2c.646A>C (p.Lys216Gln)
6g.24290990T=CA1616446840DCDC2c.646A= (p.Lys216=)
6g.24290991A>CCA363280401DCDC2c.645T>G (p.Phe215Leu)
6g.24290991A>GCA448951192DCDC2c.645T>C (p.Phe215=)
6g.24290991A>TCA363280403DCDC2c.645T>A (p.Phe215Leu)
6g.24290992A>CCA363280405DCDC2c.644T>G (p.Phe215Cys)
6g.24290992A>GCA363280407DCDC2c.644T>C (p.Phe215Ser)
6g.24290992A>TCA363280410DCDC2c.644T>A (p.Phe215Tyr)
6g.24290993A>CCA363280412DCDC2c.643T>G (p.Phe215Val)
6g.24290993A>GCA363280414DCDC2c.643T>C (p.Phe215Leu)
6g.24290993A>TCA363280416DCDC2c.643T>A (p.Phe215Ile)
6g.24290994C>ACA363280418DCDC2c.642G>T (p.Lys214Asn)
6g.24290994C=CA1616446848DCDC2c.642G= (p.Lys214=)
6g.24290994C>GCA363280420DCDC2c.642G>C (p.Lys214Asn)
6g.24290994C>TCA448951193DCDC2c.642G>A (p.Lys214=)
dbSNP gnomAD v4
6g.24290995T>ACA363280424DCDC2c.641A>T (p.Lys214Met)
COSMIC
6g.24290995T>CCA363280426DCDC2c.641A>G (p.Lys214Arg)
6g.24290995T>GCA363280422DCDC2c.641A>C (p.Lys214Thr)
COSMIC
6g.24290995T=CA1616446854DCDC2c.641A= (p.Lys214=)
6g.24290996T>ACA363280429DCDC2c.640A>T (p.Lys214Ter)
6g.24290996T>CCA363280431DCDC2c.640A>G (p.Lys214Glu)
6g.24290996T>GCA363280432DCDC2c.640A>C (p.Lys214Gln)
6g.24290997_24290998dupCA566223247DCDC2c.639_640dup (p.Lys214IlefsTer18)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24290997A=CA1616446860DCDC2c.639T= (p.Asp213=)
6g.24290997A>CCA363280434DCDC2c.639T>G (p.Asp213Glu)
dbSNP gnomAD v3 gnomAD v4
6g.24290997A>GCA448951194DCDC2c.639T>C (p.Asp213=)
6g.24290997A>TCA363280435DCDC2c.639T>A (p.Asp213Glu)
6g.24290998T>ACA363280440DCDC2c.638A>T (p.Asp213Val)
dbSNP gnomAD v3 gnomAD v4
6g.24290998T>CCA3654702DCDC2c.638A>G (p.Asp213Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290998T>GCA363280438DCDC2c.638A>C (p.Asp213Ala)
6g.24290998T=CA1616446868DCDC2c.638A= (p.Asp213=)
6g.24290999C>ACA363280442DCDC2c.637G>T (p.Asp213Tyr)
6g.24290999C>GCA363280444DCDC2c.637G>C (p.Asp213His)
6g.24290999C>TCA363280445DCDC2c.637G>A (p.Asp213Asn)
6g.24291000T>ACA363280448DCDC2c.636A>T (p.Arg212Ser)
6g.24291000T>CCA448951195DCDC2c.636A>G (p.Arg212=)
6g.24291000T>GCA363280450DCDC2c.636A>C (p.Arg212Ser)
6g.24291001C>ACA363280455DCDC2c.635G>T (p.Arg212Ile)
6g.24291001C>GCA363280453DCDC2c.635G>C (p.Arg212Thr)
6g.24291001C>TCA363280452DCDC2c.635G>A (p.Arg212Lys)
6g.24291002T>ACA363280457DCDC2c.634A>T (p.Arg212Ter)
6g.24291002T>CCA363280458DCDC2c.634A>G (p.Arg212Gly)
dbSNP gnomAD v4
6g.24291002T>GCA448951196DCDC2c.634A>C (p.Arg212=)
6g.24291002T=CA1616446872DCDC2c.634A= (p.Arg212=)
6g.24291003G>ACA448951197DCDC2c.633C>T (p.Gly211=)
gnomAD v4
6g.24291003G>CCA448951198DCDC2c.633C>G (p.Gly211=)
6g.24291003G=CA1616446875DCDC2c.633C= (p.Gly211=)
6g.24291003G>TCA3654703DCDC2c.633C>A (p.Gly211=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24291004C>ACA363280462DCDC2c.632G>T (p.Gly211Val)
6g.24291004C>GCA363280464DCDC2c.632G>C (p.Gly211Ala)
6g.24291004C>TCA363280466DCDC2c.632G>A (p.Gly211Asp)
6g.24291005C>ACA363280468DCDC2c.631G>T (p.Gly211Cys)
6g.24291005C>GCA363280470DCDC2c.631G>C (p.Gly211Arg)
6g.24291005C>TCA363280472DCDC2c.631G>A (p.Gly211Ser)
6g.24291006A>CCA448951199DCDC2c.630T>G (p.Val210=)
6g.24291006A>GCA448951200DCDC2c.630T>C (p.Val210=)
6g.24291006A>TCA448951201DCDC2c.630T>A (p.Val210=)
6g.24291007A=CA1616446882DCDC2c.629T= (p.Val210=)
6g.24291007A>CCA363280474DCDC2c.629T>G (p.Val210Gly)
gnomAD v4
6g.24291007A>GCA3654704DCDC2c.629T>C (p.Val210Ala)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.24291007A>TCA363280477DCDC2c.629T>A (p.Val210Asp)
6g.24291008C>ACA363280483DCDC2c.628G>T (p.Val210Phe)
6g.24291008C=CA1616446886DCDC2c.628G= (p.Val210=)
6g.24291008C>GCA363280485DCDC2c.628G>C (p.Val210Leu)
6g.24291008C>TCA363280481DCDC2c.628G>A (p.Val210Ile)
dbSNP gnomAD v2 gnomAD v4
6g.24291009A>CCA448951202DCDC2c.627T>G (p.Ala209=)
6g.24291009A>GCA448951203DCDC2c.627T>C (p.Ala209=)
6g.24291009A>TCA448951204DCDC2c.627T>A (p.Ala209=)
6g.24291010G>ACA363280488DCDC2c.626C>T (p.Ala209Val)
gnomAD v4
6g.24291010G>CCA363280490DCDC2c.626C>G (p.Ala209Gly)
6g.24291010G>TCA363280491DCDC2c.626C>A (p.Ala209Asp)
6g.24291011C>ACA363280494DCDC2c.625G>T (p.Ala209Ser)
6g.24291011C=CA1616446890DCDC2c.625G= (p.Ala209=)
6g.24291011C>GCA363280496DCDC2c.625G>C (p.Ala209Pro)
6g.24291011C>TCA3654705DCDC2c.625G>A (p.Ala209Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24291012C>ACA448951205DCDC2c.624G>T (p.Val208=)
6g.24291012C>GCA448951206DCDC2c.624G>C (p.Val208=)
6g.24291012C>TCA448951207DCDC2c.624G>A (p.Val208=)
6g.24291013A=CA1616446896DCDC2c.623T= (p.Val208=)
6g.24291013A>CCA363280500DCDC2c.623T>G (p.Val208Gly)
gnomAD v4
6g.24291013A>GCA136636020DCDC2c.623T>C (p.Val208Ala)
dbSNP gnomAD v2 gnomAD v4
6g.24291013A>TCA363280502DCDC2c.623T>A (p.Val208Glu)
dbSNP gnomAD v2 gnomAD v4
6g.24291014C>ACA363280505DCDC2c.622G>T (p.Val208Leu)
6g.24291014C=CA1616446898DCDC2c.622G= (p.Val208=)
6g.24291014C>GCA363280508DCDC2c.622G>C (p.Val208Leu)
6g.24291014C>TCA136636021DCDC2c.622G>A (p.Val208Met)
dbSNP gnomAD v3 gnomAD v4
6g.24291015A>CCA363280511DCDC2c.621T>G (p.Tyr207Ter)
6g.24291015A>GCA448951208DCDC2c.621T>C (p.Tyr207=)
6g.24291015A>TCA363280513DCDC2c.621T>A (p.Tyr207Ter)
6g.24291016T>ACA363280519DCDC2c.620A>T (p.Tyr207Phe)
gnomAD v4
6g.24291016T>CCA363280521DCDC2c.620A>G (p.Tyr207Cys)
gnomAD v4
6g.24291016T>GCA363280516DCDC2c.620A>C (p.Tyr207Ser)
6g.24291017A>CCA363280526DCDC2c.619T>G (p.Tyr207Asp)
6g.24291017A>GCA363280524DCDC2c.619T>C (p.Tyr207His)
6g.24291017A>TCA363280527DCDC2c.619T>A (p.Tyr207Asn)
6g.24291018A=CA1616446904DCDC2c.618T= (p.Phe206=)
6g.24291018A>CCA363280528DCDC2c.618T>G (p.Phe206Leu)
6g.24291018A>GCA3654706DCDC2c.618T>C (p.Phe206=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24291018A>TCA363280529DCDC2c.618T>A (p.Phe206Leu)
6g.24291019A>CCA363280530DCDC2c.617T>G (p.Phe206Cys)
6g.24291019A>GCA363280535DCDC2c.617T>C (p.Phe206Ser)
6g.24291019A>TCA363280533DCDC2c.617T>A (p.Phe206Tyr)
6g.24291020A>CCA363280543DCDC2c.616T>G (p.Phe206Val)
gnomAD v4
6g.24291020A>GCA363280545DCDC2c.616T>C (p.Phe206Leu)
6g.24291020A>TCA363280546DCDC2c.616T>A (p.Phe206Ile)
gnomAD v4
6g.24291021C>ACA363280549DCDC2c.615G>T (p.Gln205His)
6g.24291021C>GCA363280551DCDC2c.615G>C (p.Gln205His)
6g.24291021C>TCA448951209DCDC2c.615G>A (p.Gln205=)
6g.24291022T>ACA363280553DCDC2c.614A>T (p.Gln205Leu)
6g.24291022T>CCA363280556DCDC2c.614A>G (p.Gln205Arg)
6g.24291022T>GCA363280558DCDC2c.614A>C (p.Gln205Pro)
6g.24291023G>ACA363280561DCDC2c.613C>T (p.Gln205Ter)
gnomAD v4
6g.24291023G>CCA363280563DCDC2c.613C>G (p.Gln205Glu)
6g.24291023G>TCA363280565DCDC2c.613C>A (p.Gln205Lys)
6g.24291024C>ACA448951210DCDC2c.612G>T (p.Gly204=)
6g.24291024C=CA1616446906DCDC2c.612G= (p.Gly204=)
6g.24291024C>GCA448951211DCDC2c.612G>C (p.Gly204=)
6g.24291024C>TCA448951212DCDC2c.612G>A (p.Gly204=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24291026delCA2677515149DCDC2c.612del (p.Gln205SerfsTer26)
gnomAD v4
6g.24291025C>ACA363280569DCDC2c.611G>T (p.Gly204Val)
6g.24291025C>GCA363280567DCDC2c.611G>C (p.Gly204Ala)
6g.24291025C>TCA363280566DCDC2c.611G>A (p.Gly204Glu)
6g.24291026C>ACA363280571DCDC2c.610G>T (p.Gly204Trp)
6g.24291026C>GCA363280572DCDC2c.610G>C (p.Gly204Arg)
6g.24291026C>TCA363280574DCDC2c.610G>A (p.Gly204Arg)
6g.24291027A=CA1616446910DCDC2c.609T= (p.Asn203=)
6g.24291027A>CCA363280576DCDC2c.609T>G (p.Asn203Lys)
6g.24291027A>GCA448951213DCDC2c.609T>C (p.Asn203=)
dbSNP gnomAD v4
6g.24291027A>TCA363280577DCDC2c.609T>A (p.Asn203Lys)
dbSNP
6g.24291028T>ACA363280580DCDC2c.608A>T (p.Asn203Ile)
6g.24291028T>CCA363280581DCDC2c.608A>G (p.Asn203Ser)
6g.24291028T>GCA363280584DCDC2c.608A>C (p.Asn203Thr)
6g.24291029T>ACA363280586DCDC2c.607A>T (p.Asn203Tyr)
6g.24291029T>CCA363280588DCDC2c.607A>G (p.Asn203Asp)
6g.24291029T>GCA363280590DCDC2c.607A>C (p.Asn203His)
6g.24291030C>ACA363280596DCDC2c.606G>T (p.Glu202Asp)
6g.24291030C=CA1616446913DCDC2c.606G= (p.Glu202=)
6g.24291030C>GCA363280594DCDC2c.606G>C (p.Glu202Asp)
6g.24291030C>TCA3654707DCDC2c.606G>A (p.Glu202=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24291031T>ACA363280599DCDC2c.605A>T (p.Glu202Val)
6g.24291031T>CCA363280601DCDC2c.605A>G (p.Glu202Gly)
6g.24291031T>GCA363280603DCDC2c.605A>C (p.Glu202Ala)
dbSNP gnomAD v3 gnomAD v4
6g.24291031T=CA1616446915DCDC2c.605A= (p.Glu202=)
6g.24291032C>ACA363280605DCDC2c.604G>T (p.Glu202Ter)
dbSNP gnomAD v3 gnomAD v4
6g.24291032C=CA1616446919DCDC2c.604G= (p.Glu202=)
6g.24291032C>GCA363280608DCDC2c.604G>C (p.Glu202Gln)
dbSNP gnomAD v2 gnomAD v4
6g.24291032C>TCA363280609DCDC2c.604G>A (p.Glu202Lys)
6g.24291033C>ACA363280612DCDC2c.603G>T (p.Leu201Phe)
6g.24291033C>GCA363280614DCDC2c.603G>C (p.Leu201Phe)
gnomAD v4
6g.24291033C>TCA448951214DCDC2c.603G>A (p.Leu201=)
6g.24291034A>CCA363280617DCDC2c.602T>G (p.Leu201Trp)
6g.24291034A>GCA363280619DCDC2c.602T>C (p.Leu201Ser)
6g.24291034A>TCA363280621DCDC2c.602T>A (p.Leu201Ter)
6g.24291035A=CA1616446926DCDC2c.601T= (p.Leu201=)
6g.24291035A>CCA363280623DCDC2c.601T>G (p.Leu201Val)
6g.24291035A>GCA448951215DCDC2c.601T>C (p.Leu201=)
6g.24291035A>TCA363280625DCDC2c.601T>A (p.Leu201Met)
dbSNP gnomAD v2 gnomAD v4
6g.24291036C>ACA363280629DCDC2c.600G>T (p.Glu200Asp)
6g.24291036C>GCA363280627DCDC2c.600G>C (p.Glu200Asp)
6g.24291036C>TCA448951216DCDC2c.600G>A (p.Glu200=)
gnomAD v4
6g.24291037T>ACA363280632DCDC2c.599A>T (p.Glu200Val)
6g.24291037T>CCA363280634DCDC2c.599A>G (p.Glu200Gly)
gnomAD v4
6g.24291037T>GCA363280637DCDC2c.599A>C (p.Glu200Ala)
gnomAD v4
6g.24291038C>ACA363280639DCDC2c.598G>T (p.Glu200Ter)
6g.24291038C>GCA363280642DCDC2c.598G>C (p.Glu200Gln)
gnomAD v4
6g.24291038C>TCA363280643DCDC2c.598G>A (p.Glu200Lys)
6g.24291039T>ACA448951218DCDC2c.597A>T (p.Ala199=)
6g.24291039T>CCA3654708DCDC2c.597A>G (p.Ala199=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24291039T>GCA448951217DCDC2c.597A>C (p.Ala199=)
6g.24291039T=CA1616446930DCDC2c.597A= (p.Ala199=)
6g.24291040G>ACA363280648DCDC2c.596C>T (p.Ala199Val)
gnomAD v4
6g.24291040G>CCA136636022DCDC2c.596C>G (p.Ala199Gly)
dbSNP gnomAD v4 COSMIC
6g.24291040G=CA1616446934DCDC2c.596C= (p.Ala199=)
6g.24291040G>TCA363280652DCDC2c.596C>A (p.Ala199Glu)
COSMIC
6g.24291041C>ACA363280654DCDC2c.595G>T (p.Ala199Ser)
6g.24291041C=CA1616446941DCDC2c.595G= (p.Ala199=)
6g.24291041C>GCA363280656DCDC2c.595G>C (p.Ala199Pro)
6g.24291041C>TCA363280659DCDC2c.595G>A (p.Ala199Thr)
dbSNP gnomAD v2 gnomAD v4
6g.24291042T>ACA448951219DCDC2c.594A>T (p.Gly198=)
6g.24291042T>CCA136636023DCDC2c.594A>G (p.Gly198=)
dbSNP gnomAD v2
6g.24291042T>GCA448951220DCDC2c.594A>C (p.Gly198=)
6g.24291042T=CA1616446950DCDC2c.594A= (p.Gly198=)
6g.24291043C>ACA363280667DCDC2c.593G>T (p.Gly198Val)
6g.24291043C>GCA363280663DCDC2c.593G>C (p.Gly198Ala)
6g.24291043C>TCA363280665DCDC2c.593G>A (p.Gly198Glu)
6g.24291044C>ACA363280669DCDC2c.592G>T (p.Gly198Ter)
6g.24291044C>GCA363280672DCDC2c.592G>C (p.Gly198Arg)
6g.24291044C>TCA363280674DCDC2c.592G>A (p.Gly198Arg)
6g.24291045A>CCA363280676DCDC2c.591T>G (p.Ser197Arg)
6g.24291045A>GCA448951221DCDC2c.591T>C (p.Ser197=)
6g.24291045A>TCA363280678DCDC2c.591T>A (p.Ser197Arg)
6g.24291046C>ACA363280686DCDC2c.590G>T (p.Ser197Ile)
6g.24291046C>GCA363280681DCDC2c.590G>C (p.Ser197Thr)
6g.24291046C>TCA363280683DCDC2c.590G>A (p.Ser197Asn)
6g.24291047T>ACA363280689DCDC2c.589A>T (p.Ser197Cys)
6g.24291047T>CCA3654709DCDC2c.589A>G (p.Ser197Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24291047T>GCA363280692DCDC2c.589A>C (p.Ser197Arg)
6g.24291047T=CA1616446955DCDC2c.589A= (p.Ser197=)

Number of alleles fetched