Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.45476489_45476490insCTCACCAGGTTCATGGGCAAGCCACGGGCGCA2665386315LARS2c.880_881insCTCACCAGGTTCATGGGCAAGCCACGGGCG
c.*748_*749insCTCACCAGGTTCATGGGCAAGCCACGGGCG
c.751_752insCTCACCAGGTTCATGGGCAAGCCACGGGCG
 gnomAD v4
3g.45476463A=CA1361691349LARS2c.859-5A= (n.859-5A=)
c.*727-5A= (n.*727-5A=)
c.730-5A= (n.730-5A=)
3g.45476463A>CCA1361691350LARS2c.859-5A>C (n.859-5A>C)
c.*727-5A>C (n.*727-5A>C)
c.730-5A>C (n.730-5A>C)
 dbSNP
3g.45476463A>GCA907481145LARS2c.859-5A>G (n.859-5A>G)
c.*727-5A>G (n.*727-5A>G)
c.730-5A>G (n.730-5A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.45476465C=CA1361691351LARS2c.859-3C= (n.859-3C=)
c.*727-3C= (n.*727-3C=)
c.730-3C= (n.730-3C=)
3g.45476465C>TCA1047458877LARS2c.859-3C>T (n.859-3C>T)
c.*727-3C>T (n.*727-3C>T)
c.730-3C>T (n.730-3C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.45476466A>CCA352423474LARS2c.859-2A>C (n.859-2A>C)
c.*727-2A>C (n.*727-2A>C)
c.730-2A>C (n.730-2A>C)
3g.45476466A>GCA352423476LARS2c.859-2A>G (n.859-2A>G)
c.*727-2A>G (n.*727-2A>G)
c.730-2A>G (n.730-2A>G)
 gnomAD v4
3g.45476466A>TCA352423478LARS2c.859-2A>T (n.859-2A>T)
c.*727-2A>T (n.*727-2A>T)
c.730-2A>T (n.730-2A>T)
3g.45476467G>ACA352423483LARS2c.859-1G>A (n.859-1G>A)
c.*727-1G>A (n.*727-1G>A)
c.730-1G>A (n.730-1G>A)
3g.45476467G>CCA352423481LARS2c.859-1G>C (n.859-1G>C)
c.*727-1G>C (n.*727-1G>C)
c.730-1G>C (n.730-1G>C)
3g.45476467G>TCA352423480LARS2c.859-1G>T (n.859-1G>T)
c.*727-1G>T (n.*727-1G>T)
c.730-1G>T (n.730-1G>T)
3g.45476468G>ACA73581250LARS2c.859G>A (p.Val287Ile)
c.*727G>A (n.*727G>A)
c.730G>A (p.Val244Ile)
 dbSNP gnomAD v4
3g.45476468G>CCA352423485LARS2c.859G>C (p.Val287Leu)
c.*727G>C (n.*727G>C)
c.730G>C (p.Val244Leu)
3g.45476468G=CA1361691352LARS2c.859G= (p.Val287=)
c.*727G= (n.*727G=)
c.730G= (p.Val244=)
3g.45476468G>TCA352423487LARS2c.859G>T (p.Val287Phe)
c.*727G>T (n.*727G>T)
c.730G>T (p.Val244Phe)
3g.45476469T>ACA352423489LARS2c.860T>A (p.Val287Asp)
c.*728T>A (n.*728T>A)
c.731T>A (p.Val244Asp)
3g.45476469T>CCA352423490LARS2c.860T>C (p.Val287Ala)
c.*728T>C (n.*728T>C)
c.731T>C (p.Val244Ala)
3g.45476469T>GCA352423491LARS2c.860T>G (p.Val287Gly)
c.*728T>G (n.*728T>G)
c.731T>G (p.Val244Gly)
3g.45476470T>ACA433432992LARS2c.861T>A (p.Val287=)
c.*729T>A (n.*729T>A)
c.732T>A (p.Val244=)
3g.45476470T>CCA433432993LARS2c.861T>C (p.Val287=)
c.*729T>C (n.*729T>C)
c.732T>C (p.Val244=)
3g.45476470T>GCA433432994LARS2c.861T>G (p.Val287=)
c.*729T>G (n.*729T>G)
c.732T>G (p.Val244=)
3g.45476471C>ACA352423493LARS2c.862C>A (p.His288Asn)
c.*730C>A (n.*730C>A)
c.733C>A (p.His245Asn)
3g.45476471C=CA1361691353LARS2c.862C= (p.His288=)
c.*730C= (n.*730C=)
c.733C= (p.His245=)
3g.45476471C>GCA2349437LARS2c.862C>G (p.His288Asp)
c.*730C>G (n.*730C>G)
c.733C>G (p.His245Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476471C>TCA352423496LARS2c.862C>T (p.His288Tyr)
c.*730C>T (n.*730C>T)
c.733C>T (p.His245Tyr)
3g.45476472A=CA1361691354LARS2c.863A= (p.His288=)
c.*731A= (n.*731A=)
c.734A= (p.His245=)
3g.45476472A>CCA352423497LARS2c.863A>C (p.His288Pro)
c.*731A>C (n.*731A>C)
c.734A>C (p.His245Pro)
3g.45476472A>GCA2349439LARS2c.863A>G (p.His288Arg)
c.*731A>G (n.*731A>G)
c.734A>G (p.His245Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476472A>TCA2349438LARS2c.863A>T (p.His288Leu)
c.*731A>T (n.*731A>T)
c.734A>T (p.His245Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476473T>ACA352423501LARS2c.864T>A (p.His288Gln)
c.*732T>A (n.*732T>A)
c.735T>A (p.His245Gln)
3g.45476473T>CCA2349440LARS2c.864T>C (p.His288=)
c.*732T>C (n.*732T>C)
c.735T>C (p.His245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476473T>GCA352423502LARS2c.864T>G (p.His288Gln)
c.*732T>G (n.*732T>G)
c.735T>G (p.His245Gln)
 dbSNP
3g.45476473T=CA1361691355LARS2c.864T= (p.His288=)
c.*732T= (n.*732T=)
c.735T= (p.His245=)
3g.45476474G>ACA352423504LARS2c.865G>A (p.Gly289Arg)
c.*733G>A (n.*733G>A)
c.736G>A (p.Gly246Arg)
3g.45476474G>CCA352423507LARS2c.865G>C (p.Gly289Arg)
c.*733G>C (n.*733G>C)
c.736G>C (p.Gly246Arg)
3g.45476474G>TCA352423505LARS2c.865G>T (p.Gly289Trp)
c.*733G>T (n.*733G>T)
c.736G>T (p.Gly246Trp)
3g.45476475G>ACA352423509LARS2c.866G>A (p.Gly289Glu)
c.*734G>A (n.*734G>A)
c.737G>A (p.Gly246Glu)
 dbSNP
3g.45476475G>CCA352423511LARS2c.866G>C (p.Gly289Ala)
c.*734G>C (n.*734G>C)
c.737G>C (p.Gly246Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.45476475G=CA1361691356LARS2c.866G= (p.Gly289=)
c.*734G= (n.*734G=)
c.737G= (p.Gly246=)
3g.45476475G>TCA352423512LARS2c.866G>T (p.Gly289Val)
c.*734G>T (n.*734G>T)
c.737G>T (p.Gly246Val)
3g.45476476G>ACA433432995LARS2c.867G>A (p.Gly289=)
c.*735G>A (n.*735G>A)
c.738G>A (p.Gly246=)
3g.45476476G>CCA433432996LARS2c.867G>C (p.Gly289=)
c.*735G>C (n.*735G>C)
c.738G>C (p.Gly246=)
3g.45476476G>TCA433432997LARS2c.867G>T (p.Gly289=)
c.*735G>T (n.*735G>T)
c.738G>T (p.Gly246=)
3g.45476477C>ACA352423514LARS2c.868C>A (p.Gln290Lys)
c.*736C>A (n.*736C>A)
c.739C>A (p.Gln247Lys)
3g.45476477C=CA1361691357LARS2c.868C= (p.Gln290=)
c.*736C= (n.*736C=)
c.739C= (p.Gln247=)
3g.45476477C>GCA352423516LARS2c.868C>G (p.Gln290Glu)
c.*736C>G (n.*736C>G)
c.739C>G (p.Gln247Glu)
3g.45476477C>TCA73581280LARS2c.868C>T (p.Gln290Ter)
c.*736C>T (n.*736C>T)
c.739C>T (p.Gln247Ter)
 dbSNP
3g.45476478A>CCA352423518LARS2c.869A>C (p.Gln290Pro)
c.*737A>C (n.*737A>C)
c.740A>C (p.Gln247Pro)
3g.45476478A>GCA352423520LARS2c.869A>G (p.Gln290Arg)
c.*737A>G (n.*737A>G)
c.740A>G (p.Gln247Arg)
3g.45476478A>TCA352423522LARS2c.869A>T (p.Gln290Leu)
c.*737A>T (n.*737A>T)
c.740A>T (p.Gln247Leu)
3g.45476479A>CCA352423523LARS2c.870A>C (p.Gln290His)
c.*738A>C (n.*738A>C)
c.741A>C (p.Gln247His)
3g.45476479A>GCA433432998LARS2c.870A>G (p.Gln290=)
c.*738A>G (n.*738A>G)
c.741A>G (p.Gln247=)
3g.45476479A>TCA352423525LARS2c.870A>T (p.Gln290His)
c.*738A>T (n.*738A>T)
c.741A>T (p.Gln247His)
3g.45476480G>ACA352423530LARS2c.871G>A (p.Ala291Thr)
c.*739G>A (n.*739G>A)
c.742G>A (p.Ala248Thr)
3g.45476480G>CCA352423527LARS2c.871G>C (p.Ala291Pro)
c.*739G>C (n.*739G>C)
c.742G>C (p.Ala248Pro)
3g.45476480G>TCA352423529LARS2c.871G>T (p.Ala291Ser)
c.*739G>T (n.*739G>T)
c.742G>T (p.Ala248Ser)
3g.45476481C>ACA352423532LARS2c.872C>A (p.Ala291Asp)
c.*740C>A (n.*740C>A)
c.743C>A (p.Ala248Asp)
3g.45476481C>GCA352423533LARS2c.872C>G (p.Ala291Gly)
c.*740C>G (n.*740C>G)
c.743C>G (p.Ala248Gly)
3g.45476481C>TCA352423535LARS2c.872C>T (p.Ala291Val)
c.*740C>T (n.*740C>T)
c.743C>T (p.Ala248Val)
3g.45476482C>ACA433432999LARS2c.873C>A (p.Ala291=)
c.*741C>A (n.*741C>A)
c.744C>A (p.Ala248=)
3g.45476482C>GCA433433000LARS2c.873C>G (p.Ala291=)
c.*741C>G (n.*741C>G)
c.744C>G (p.Ala248=)
3g.45476482C>TCA433433001LARS2c.873C>T (p.Ala291=)
c.*741C>T (n.*741C>T)
c.744C>T (p.Ala248=)
3g.45476483A>CCA352423537LARS2c.874A>C (p.Thr292Pro)
c.*742A>C (n.*742A>C)
c.745A>C (p.Thr249Pro)
3g.45476483A>GCA352423538LARS2c.874A>G (p.Thr292Ala)
c.*742A>G (n.*742A>G)
c.745A>G (p.Thr249Ala)
 gnomAD v4
3g.45476483A>TCA352423540LARS2c.874A>T (p.Thr292Ser)
c.*742A>T (n.*742A>T)
c.745A>T (p.Thr249Ser)
3g.45476484C>ACA352423542LARS2c.875C>A (p.Thr292Lys)
c.*743C>A (n.*743C>A)
c.746C>A (p.Thr249Lys)
3g.45476484C=CA1361691358LARS2c.875C= (p.Thr292=)
c.*743C= (n.*743C=)
c.746C= (p.Thr249=)
3g.45476484C>GCA352423544LARS2c.875C>G (p.Thr292Arg)
c.*743C>G (n.*743C>G)
c.746C>G (p.Thr249Arg)
3g.45476484C>TCA352423545LARS2c.875C>T (p.Thr292Met)
c.*743C>T (n.*743C>T)
c.746C>T (p.Thr249Met)
 dbSNP gnomAD v4
3g.45476485G>ACA2349441LARS2c.876G>A (p.Thr292=)
c.*744G>A (n.*744G>A)
c.747G>A (p.Thr249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476485G>CCA433433002LARS2c.876G>C (p.Thr292=)
c.*744G>C (n.*744G>C)
c.747G>C (p.Thr249=)
3g.45476485G=CA1361691359LARS2c.876G= (p.Thr292=)
c.*744G= (n.*744G=)
c.747G= (p.Thr249=)
3g.45476485G>TCA433433003LARS2c.876G>T (p.Thr292=)
c.*744G>T (n.*744G>T)
c.747G>T (p.Thr249=)
 COSMIC
3g.45476486G>ACA352423550LARS2c.877G>A (p.Gly293Ser)
c.*745G>A (n.*745G>A)
c.748G>A (p.Gly250Ser)
3g.45476486G>CCA352423551LARS2c.877G>C (p.Gly293Arg)
c.*745G>C (n.*745G>C)
c.748G>C (p.Gly250Arg)
3g.45476486G>TCA352423548LARS2c.877G>T (p.Gly293Cys)
c.*745G>T (n.*745G>T)
c.748G>T (p.Gly250Cys)
3g.45476487G>ACA352423552LARS2c.878G>A (p.Gly293Asp)
c.*746G>A (n.*746G>A)
c.749G>A (p.Gly250Asp)
3g.45476487G>CCA352423554LARS2c.878G>C (p.Gly293Ala)
c.*746G>C (n.*746G>C)
c.749G>C (p.Gly250Ala)
3g.45476487G>TCA352423555LARS2c.878G>T (p.Gly293Val)
c.*746G>T (n.*746G>T)
c.749G>T (p.Gly250Val)
3g.45476488C>ACA2349442LARS2c.879C>A (p.Gly293=)
c.*747C>A (n.*747C>A)
c.750C>A (p.Gly250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476488C=CA1361691360LARS2c.879C= (p.Gly293=)
c.*747C= (n.*747C=)
c.750C= (p.Gly250=)
3g.45476488C>GCA433433004LARS2c.879C>G (p.Gly293=)
c.*747C>G (n.*747C>G)
c.750C>G (p.Gly250=)
3g.45476488C>TCA2349443LARS2c.879C>T (p.Gly293=)
c.*747C>T (n.*747C>T)
c.750C>T (p.Gly250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476489G>ACA2349444LARS2c.880G>A (p.Glu294Lys)
c.*748G>A (n.*748G>A)
c.751G>A (p.Glu251Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476489G>CCA352423558LARS2c.880G>C (p.Glu294Gln)
c.*748G>C (n.*748G>C)
c.751G>C (p.Glu251Gln)
3g.45476489G=CA1361691361LARS2c.880G= (p.Glu294=)
c.*748G= (n.*748G=)
c.751G= (p.Glu251=)
3g.45476489G>TCA352423560LARS2c.880G>T (p.Glu294Ter)
c.*748G>T (n.*748G>T)
c.751G>T (p.Glu251Ter)
3g.45476490A>CCA352423561LARS2c.881A>C (p.Glu294Ala)
c.*749A>C (n.*749A>C)
c.752A>C (p.Glu251Ala)
3g.45476490A>GCA352423563LARS2c.881A>G (p.Glu294Gly)
c.*749A>G (n.*749A>G)
c.752A>G (p.Glu251Gly)
3g.45476490A>TCA352423564LARS2c.881A>T (p.Glu294Val)
c.*749A>T (n.*749A>T)
c.752A>T (p.Glu251Val)
3g.45476493delCA2665386316LARS2c.884del (p.Lys295SerfsTer2)
c.*752del (n.*752del)
c.755del (p.Lys252SerfsTer2)
 gnomAD v4
3g.45476491A>CCA352423566LARS2c.882A>C (p.Glu294Asp)
c.*750A>C (n.*750A>C)
c.753A>C (p.Glu251Asp)
3g.45476491A>GCA433433005LARS2c.882A>G (p.Glu294=)
c.*750A>G (n.*750A>G)
c.753A>G (p.Glu251=)
3g.45476491A>TCA352423568LARS2c.882A>T (p.Glu294Asp)
c.*750A>T (n.*750A>T)
c.753A>T (p.Glu251Asp)
3g.45476492A>CCA352423571LARS2c.883A>C (p.Lys295Gln)
c.*751A>C (n.*751A>C)
c.754A>C (p.Lys252Gln)
3g.45476492A>GCA352423570LARS2c.883A>G (p.Lys295Glu)
c.*751A>G (n.*751A>G)
c.754A>G (p.Lys252Glu)
3g.45476492A>TCA352423569LARS2c.883A>T (p.Lys295Ter)
c.*751A>T (n.*751A>T)
c.754A>T (p.Lys252Ter)
3g.45476493A>CCA352423573LARS2c.884A>C (p.Lys295Thr)
c.*752A>C (n.*752A>C)
c.755A>C (p.Lys252Thr)
 gnomAD v4
3g.45476493A>GCA352423574LARS2c.884A>G (p.Lys295Arg)
c.*752A>G (n.*752A>G)
c.755A>G (p.Lys252Arg)
3g.45476493A>TCA352423575LARS2c.884A>T (p.Lys295Met)
c.*752A>T (n.*752A>T)
c.755A>T (p.Lys252Met)
3g.45476494G>ACA433433006LARS2c.885G>A (p.Lys295=)
c.*753G>A (n.*753G>A)
c.756G>A (p.Lys252=)
3g.45476494G>CCA352423576LARS2c.885G>C (p.Lys295Asn)
c.*753G>C (n.*753G>C)
c.756G>C (p.Lys252Asn)
3g.45476494G>TCA352423578LARS2c.885G>T (p.Lys295Asn)
c.*753G>T (n.*753G>T)
c.756G>T (p.Lys252Asn)
3g.45476495C>ACA352423580LARS2c.886C>A (p.Leu296Met)
c.*754C>A (n.*754C>A)
c.757C>A (p.Leu253Met)
3g.45476495C>GCA352423582LARS2c.886C>G (p.Leu296Val)
c.*754C>G (n.*754C>G)
c.757C>G (p.Leu253Val)
 gnomAD v4
3g.45476495C>TCA433433007LARS2c.886C>T (p.Leu296=)
c.*754C>T (n.*754C>T)
c.757C>T (p.Leu253=)
3g.45476496T>ACA352423584LARS2c.887T>A (p.Leu296Gln)
c.*755T>A (n.*755T>A)
c.758T>A (p.Leu253Gln)
3g.45476496T>CCA352423585LARS2c.887T>C (p.Leu296Pro)
c.*755T>C (n.*755T>C)
c.758T>C (p.Leu253Pro)
3g.45476496T>GCA352423587LARS2c.887T>G (p.Leu296Arg)
c.*755T>G (n.*755T>G)
c.758T>G (p.Leu253Arg)
3g.45476497G>ACA433433008LARS2c.888G>A (p.Leu296=)
c.*756G>A (n.*756G>A)
c.759G>A (p.Leu253=)
3g.45476497G>CCA433433009LARS2c.888G>C (p.Leu296=)
c.*756G>C (n.*756G>C)
c.759G>C (p.Leu253=)
3g.45476497G>TCA433433010LARS2c.888G>T (p.Leu296=)
c.*756G>T (n.*756G>T)
c.759G>T (p.Leu253=)
3g.45476497_45476506delinsGACTGCCTATCA1361691362LARS2c.888_897delinsGACTGCCTAT (p.Leu296=)
c.*756_*765delinsGACTGCCTAT (n.*756_*765delinsGACTGCCTAT)
c.759_768delinsGACTGCCTAT (p.Leu253=)
3g.45476498A=CA1361691363LARS2c.889A= (p.Thr297=)
c.*757A= (n.*757A=)
c.760A= (p.Thr254=)
3g.45476498A>CCA352423589LARS2c.889A>C (p.Thr297Pro)
c.*757A>C (n.*757A>C)
c.760A>C (p.Thr254Pro)
3g.45476498A>GCA352423590LARS2c.889A>G (p.Thr297Ala)
c.*757A>G (n.*757A>G)
c.760A>G (p.Thr254Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.45476498A>TCA352423592LARS2c.889A>T (p.Thr297Ser)
c.*757A>T (n.*757A>T)
c.760A>T (p.Thr254Ser)
3g.45476500_45476508delCA1047458894LARS2c.891_899del (p.Ala298_Thr300del)
c.*759_*767del (n.*759_*767del)
c.762_770del (p.Ala255_Thr257del)
 dbSNP gnomAD v3 gnomAD v4
3g.45476499C>ACA352423595LARS2c.890C>A (p.Thr297Asn)
c.*758C>A (n.*758C>A)
c.761C>A (p.Thr254Asn)
3g.45476499C=CA1361691364LARS2c.890C= (p.Thr297=)
c.*758C= (n.*758C=)
c.761C= (p.Thr254=)
3g.45476499C>GCA352423596LARS2c.890C>G (p.Thr297Ser)
c.*758C>G (n.*758C>G)
c.761C>G (p.Thr254Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.45476499C>TCA352423593LARS2c.890C>T (p.Thr297Ile)
c.*758C>T (n.*758C>T)
c.761C>T (p.Thr254Ile)
3g.45476500T>ACA433433011LARS2c.891T>A (p.Thr297=)
c.*759T>A (n.*759T>A)
c.762T>A (p.Thr254=)
3g.45476500T>CCA433433012LARS2c.891T>C (p.Thr297=)
c.*759T>C (n.*759T>C)
c.762T>C (p.Thr254=)
3g.45476500T>GCA433433013LARS2c.891T>G (p.Thr297=)
c.*759T>G (n.*759T>G)
c.762T>G (p.Thr254=)
 dbSNP
3g.45476500T=CA1361691365LARS2c.891T= (p.Thr297=)
c.*759T= (n.*759T=)
c.762T= (p.Thr254=)
3g.45476501G>ACA352423598LARS2c.892G>A (p.Ala298Thr)
c.*760G>A (n.*760G>A)
c.763G>A (p.Ala255Thr)
3g.45476501G>CCA352423597LARS2c.892G>C (p.Ala298Pro)
c.*760G>C (n.*760G>C)
c.763G>C (p.Ala255Pro)
3g.45476501G>TCA352423600LARS2c.892G>T (p.Ala298Ser)
c.*760G>T (n.*760G>T)
c.763G>T (p.Ala255Ser)
3g.45476501_45476514delinsGCCTATACGGCCACCA1361691366LARS2c.892_905delinsGCCTATACGGCCAC (p.Ala298=)
c.*760_*773delinsGCCTATACGGCCAC (n.*760_*773delinsGCCTATACGGCCAC)
c.763_776delinsGCCTATACGGCCAC (p.Ala255=)
3g.45476502C>ACA352423601LARS2c.893C>A (p.Ala298Asp)
c.*761C>A (n.*761C>A)
c.764C>A (p.Ala255Asp)
3g.45476502C=CA1361691368LARS2c.893C= (p.Ala298=)
c.*761C= (n.*761C=)
c.764C= (p.Ala255=)
3g.45476502C>GCA352423605LARS2c.893C>G (p.Ala298Gly)
c.*761C>G (n.*761C>G)
c.764C>G (p.Ala255Gly)
3g.45476502C>TCA352423603LARS2c.893C>T (p.Ala298Val)
c.*761C>T (n.*761C>T)
c.764C>T (p.Ala255Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.45476504_45476516delCA1361691367LARS2c.895_907del (p.Tyr299LeufsTer25)
c.*763_*775del (n.*763_*775del)
c.766_778del (p.Tyr256LeufsTer25)
 dbSNP
3g.45476503C>ACA433433014LARS2c.894C>A (p.Ala298=)
c.*762C>A (n.*762C>A)
c.765C>A (p.Ala255=)
3g.45476503C>GCA433433015LARS2c.894C>G (p.Ala298=)
c.*762C>G (n.*762C>G)
c.765C>G (p.Ala255=)
3g.45476503C>TCA433433016LARS2c.894C>T (p.Ala298=)
c.*762C>T (n.*762C>T)
c.765C>T (p.Ala255=)
3g.45476504T>ACA352423606LARS2c.895T>A (p.Tyr299Asn)
c.*763T>A (n.*763T>A)
c.766T>A (p.Tyr256Asn)
3g.45476504T>CCA2349445LARS2c.895T>C (p.Tyr299His)
c.*763T>C (n.*763T>C)
c.766T>C (p.Tyr256His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476504T>GCA352423607LARS2c.895T>G (p.Tyr299Asp)
c.*763T>G (n.*763T>G)
c.766T>G (p.Tyr256Asp)
3g.45476504T=CA1361691369LARS2c.895T= (p.Tyr299=)
c.*763T= (n.*763T=)
c.766T= (p.Tyr256=)
3g.45476505A=CA1361691370LARS2c.896A= (p.Tyr299=)
c.*764A= (n.*764A=)
c.767A= (p.Tyr256=)
3g.45476505A>CCA352423609LARS2c.896A>C (p.Tyr299Ser)
c.*764A>C (n.*764A>C)
c.767A>C (p.Tyr256Ser)
3g.45476505A>GCA2349446LARS2c.896A>G (p.Tyr299Cys)
c.*764A>G (n.*764A>G)
c.767A>G (p.Tyr256Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476505A>TCA352423611LARS2c.896A>T (p.Tyr299Phe)
c.*764A>T (n.*764A>T)
c.767A>T (p.Tyr256Phe)
3g.45476506T>ACA352423613LARS2c.897T>A (p.Tyr299Ter)
c.*765T>A (n.*765T>A)
c.768T>A (p.Tyr256Ter)
3g.45476506T>CCA433433017LARS2c.897T>C (p.Tyr299=)
c.*765T>C (n.*765T>C)
c.768T>C (p.Tyr256=)
3g.45476506T>GCA352423615LARS2c.897T>G (p.Tyr299Ter)
c.*765T>G (n.*765T>G)
c.768T>G (p.Tyr256Ter)
3g.45476507A>CCA352423617LARS2c.898A>C (p.Thr300Pro)
c.*766A>C (n.*766A>C)
c.769A>C (p.Thr257Pro)
 gnomAD v4
3g.45476507A>GCA352423619LARS2c.898A>G (p.Thr300Ala)
c.*766A>G (n.*766A>G)
c.769A>G (p.Thr257Ala)
3g.45476507A>TCA352423620LARS2c.898A>T (p.Thr300Ser)
c.*766A>T (n.*766A>T)
c.769A>T (p.Thr257Ser)
3g.45476508C>ACA352423622LARS2c.899C>A (p.Thr300Lys)
c.*767C>A (n.*767C>A)
c.770C>A (p.Thr257Lys)
 gnomAD v4
3g.45476508C=CA1361691371LARS2c.899C= (p.Thr300=)
c.*767C= (n.*767C=)
c.770C= (p.Thr257=)
3g.45476508C>GCA352423624LARS2c.899C>G (p.Thr300Arg)
c.*767C>G (n.*767C>G)
c.770C>G (p.Thr257Arg)
 dbSNP
3g.45476508C>TCA278778LARS2c.899C>T (p.Thr300Met)
c.*767C>T (n.*767C>T)
c.770C>T (p.Thr257Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476509G>ACA73581327LARS2c.900G>A (p.Thr300=)
c.*768G>A (n.*768G>A)
c.771G>A (p.Thr257=)
 dbSNP gnomAD v2 gnomAD v4
3g.45476509G>CCA433433018LARS2c.900G>C (p.Thr300=)
c.*768G>C (n.*768G>C)
c.771G>C (p.Thr257=)
3g.45476509G=CA1361691372LARS2c.900G= (p.Thr300=)
c.*768G= (n.*768G=)
c.771G= (p.Thr257=)
3g.45476509G>TCA433433019LARS2c.900G>T (p.Thr300=)
c.*768G>T (n.*768G>T)
c.771G>T (p.Thr257=)
3g.45476510G>ACA352423627LARS2c.901G>A (p.Ala301Thr)
c.*769G>A (n.*769G>A)
c.772G>A (p.Ala258Thr)
 ClinVar gnomAD v4
3g.45476510G>CCA352423629LARS2c.901G>C (p.Ala301Pro)
c.*769G>C (n.*769G>C)
c.772G>C (p.Ala258Pro)
3g.45476510G>TCA352423630LARS2c.901G>T (p.Ala301Ser)
c.*769G>T (n.*769G>T)
c.772G>T (p.Ala258Ser)
 COSMIC
3g.45476510_45476514delinsGCCACCA1361691373LARS2c.901_905delinsGCCAC (p.Ala301=)
c.*769_*773delinsGCCAC (n.*769_*773delinsGCCAC)
c.772_776delinsGCCAC (p.Ala258=)
3g.45476511C>ACA352423632LARS2c.902C>A (p.Ala301Asp)
c.*770C>A (n.*770C>A)
c.773C>A (p.Ala258Asp)
3g.45476511C>GCA352423634LARS2c.902C>G (p.Ala301Gly)
c.*770C>G (n.*770C>G)
c.773C>G (p.Ala258Gly)
3g.45476511C>TCA352423636LARS2c.902C>T (p.Ala301Val)
c.*770C>T (n.*770C>T)
c.773C>T (p.Ala258Val)
3g.45476513_45476516delCA1047458916LARS2c.904_907del (p.Thr302LeufsTer25)
c.*772_*775del (n.*772_*775del)
c.775_778del (p.Thr259LeufsTer25)
 dbSNP gnomAD v3 gnomAD v4
3g.45476512C>ACA433433020LARS2c.903C>A (p.Ala301=)
c.*771C>A (n.*771C>A)
c.774C>A (p.Ala258=)
3g.45476512C=CA1361691374LARS2c.903C= (p.Ala301=)
c.*771C= (n.*771C=)
c.774C= (p.Ala258=)
3g.45476512C>GCA433433021LARS2c.903C>G (p.Ala301=)
c.*771C>G (n.*771C>G)
c.774C>G (p.Ala258=)
3g.45476512C>TCA2349447LARS2c.903C>T (p.Ala301=)
c.*771C>T (n.*771C>T)
c.774C>T (p.Ala258=)
 dbSNP ExAC gnomAD v2
3g.45476513A>CCA352423639LARS2c.904A>C (p.Thr302Pro)
c.*772A>C (n.*772A>C)
c.775A>C (p.Thr259Pro)
3g.45476513A>GCA352423640LARS2c.904A>G (p.Thr302Ala)
c.*772A>G (n.*772A>G)
c.775A>G (p.Thr259Ala)
3g.45476513A>TCA352423641LARS2c.904A>T (p.Thr302Ser)
c.*772A>T (n.*772A>T)
c.775A>T (p.Thr259Ser)
3g.45476513_45476514delinsACCA1361691375LARS2c.904_905delinsAC (p.Thr302=)
c.*772_*773delinsAC (n.*772_*773delinsAC)
c.775_776delinsAC (p.Thr259=)
3g.45476514C>ACA352423645LARS2c.905C>A (p.Thr302Asn)
c.*773C>A (n.*773C>A)
c.776C>A (p.Thr259Asn)
3g.45476514C=CA1361691376LARS2c.905C= (p.Thr302=)
c.*773C= (n.*773C=)
c.776C= (p.Thr259=)
3g.45476514C>GCA352423647LARS2c.905C>G (p.Thr302Ser)
c.*773C>G (n.*773C>G)
c.776C>G (p.Thr259Ser)
3g.45476514C>TCA2349449LARS2c.905C>T (p.Thr302Ile)
c.*773C>T (n.*773C>T)
c.776C>T (p.Thr259Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476517delCA2349448LARS2c.908del (p.Pro303LeufsTer25)
c.*776del (n.*776del)
c.779del (p.Pro260LeufsTer25)
 dbSNP ExAC gnomAD v2
3g.45476515C>ACA433433022LARS2c.906C>A (p.Thr302=)
c.*774C>A (n.*774C>A)
c.777C>A (p.Thr259=)
3g.45476515C=CA1361691377LARS2c.906C= (p.Thr302=)
c.*774C= (n.*774C=)
c.777C= (p.Thr259=)
3g.45476515C>GCA2349450LARS2c.906C>G (p.Thr302=)
c.*774C>G (n.*774C>G)
c.777C>G (p.Thr259=)
 dbSNP ExAC gnomAD v2
3g.45476515C>TCA433433023LARS2c.906C>T (p.Thr302=)
c.*774C>T (n.*774C>T)
c.777C>T (p.Thr259=)
 dbSNP gnomAD v3 gnomAD v4
3g.45476516C>ACA352423652LARS2c.907C>A (p.Pro303Thr)
c.*775C>A (n.*775C>A)
c.778C>A (p.Pro260Thr)
3g.45476516C>GCA352423654LARS2c.907C>G (p.Pro303Ala)
c.*775C>G (n.*775C>G)
c.778C>G (p.Pro260Ala)
3g.45476516C>TCA352423655LARS2c.907C>T (p.Pro303Ser)
c.*775C>T (n.*775C>T)
c.778C>T (p.Pro260Ser)
3g.45476517C>ACA352423658LARS2c.908C>A (p.Pro303His)
c.*776C>A (n.*776C>A)
c.779C>A (p.Pro260His)
3g.45476517C>GCA352423661LARS2c.908C>G (p.Pro303Arg)
c.*776C>G (n.*776C>G)
c.779C>G (p.Pro260Arg)
3g.45476517C>TCA352423659LARS2c.908C>T (p.Pro303Leu)
c.*776C>T (n.*776C>T)
c.779C>T (p.Pro260Leu)
 gnomAD v4
3g.45476517_45476518delinsCTCA1361691378LARS2c.908_909delinsCT (p.Pro303=)
c.*776_*777delinsCT (n.*776_*777delinsCT)
c.779_780delinsCT (p.Pro260=)
3g.45476518delCA543040663LARS2c.909del (p.Glu304LysfsTer24)
c.*777del (n.*777del)
c.780del (p.Glu261LysfsTer24)
 dbSNP gnomAD v2 gnomAD v4
3g.45476518T>ACA433433024LARS2c.909T>A (p.Pro303=)
c.*777T>A (n.*777T>A)
c.780T>A (p.Pro260=)
3g.45476518T>CCA433433025LARS2c.909T>C (p.Pro303=)
c.*777T>C (n.*777T>C)
c.780T>C (p.Pro260=)
3g.45476518T>GCA433433026LARS2c.909T>G (p.Pro303=)
c.*777T>G (n.*777T>G)
c.780T>G (p.Pro260=)
3g.45476519G>ACA352423663LARS2c.910G>A (p.Glu304Lys)
c.*778G>A (n.*778G>A)
c.781G>A (p.Glu261Lys)
3g.45476519G>CCA352423665LARS2c.910G>C (p.Glu304Gln)
c.*778G>C (n.*778G>C)
c.781G>C (p.Glu261Gln)
3g.45476519G>TCA352423666LARS2c.910G>T (p.Glu304Ter)
c.*778G>T (n.*778G>T)
c.781G>T (p.Glu261Ter)
3g.45476520A>CCA352423668LARS2c.911A>C (p.Glu304Ala)
c.*779A>C (n.*779A>C)
c.782A>C (p.Glu261Ala)
3g.45476520A>GCA352423669LARS2c.911A>G (p.Glu304Gly)
c.*779A>G (n.*779A>G)
c.782A>G (p.Glu261Gly)
3g.45476520A>TCA352423670LARS2c.911A>T (p.Glu304Val)
c.*779A>T (n.*779A>T)
c.782A>T (p.Glu261Val)
3g.45476521A>CCA352423672LARS2c.912A>C (p.Glu304Asp)
c.*780A>C (n.*780A>C)
c.783A>C (p.Glu261Asp)
3g.45476521A>GCA433433027LARS2c.912A>G (p.Glu304=)
c.*780A>G (n.*780A>G)
c.783A>G (p.Glu261=)
3g.45476521A>TCA352423673LARS2c.912A>T (p.Glu304Asp)
c.*780A>T (n.*780A>T)
c.783A>T (p.Glu261Asp)
3g.45476522G>ACA352423674LARS2c.913G>A (p.Ala305Thr)
c.*781G>A (n.*781G>A)
c.784G>A (p.Ala262Thr)
3g.45476522G>CCA352423675LARS2c.913G>C (p.Ala305Pro)
c.*781G>C (n.*781G>C)
c.784G>C (p.Ala262Pro)
3g.45476522G>TCA352423677LARS2c.913G>T (p.Ala305Ser)
c.*781G>T (n.*781G>T)
c.784G>T (p.Ala262Ser)
3g.45476523C>ACA352423682LARS2c.914C>A (p.Ala305Asp)
c.*782C>A (n.*782C>A)
c.785C>A (p.Ala262Asp)
3g.45476523C>GCA352423679LARS2c.914C>G (p.Ala305Gly)
c.*782C>G (n.*782C>G)
c.785C>G (p.Ala262Gly)
3g.45476523C>TCA352423681LARS2c.914C>T (p.Ala305Val)
c.*782C>T (n.*782C>T)
c.785C>T (p.Ala262Val)
 gnomAD v4
3g.45476524C>ACA433433028LARS2c.915C>A (p.Ala305=)
c.*783C>A (n.*783C>A)
c.786C>A (p.Ala262=)
3g.45476524C=CA1361691379LARS2c.915C= (p.Ala305=)
c.*783C= (n.*783C=)
c.786C= (p.Ala262=)
3g.45476524C>GCA433433029LARS2c.915C>G (p.Ala305=)
c.*783C>G (n.*783C>G)
c.786C>G (p.Ala262=)
3g.45476524C>TCA2349451LARS2c.915C>T (p.Ala305=)
c.*783C>T (n.*783C>T)
c.786C>T (p.Ala262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476528_45476529insTCATTTCA2665386317LARS2c.919_920insTCATTT (p.Ile306_Tyr307insPheIle)
c.*787_*788insTCATTT (n.*787_*788insTCATTT)
c.790_791insTCATTT (p.Ile263_Tyr264insPheIle)
 gnomAD v4
3g.45476524_45476525insTTATATCCTTGAAGAAACA2665386318LARS2c.915_916insTTATATCCTTGAAGAAA (p.Ile306LeufsTer4)
c.*783_*784insTTATATCCTTGAAGAAA (n.*783_*784insTTATATCCTTGAAGAAA)
c.786_787insTTATATCCTTGAAGAAA (p.Ile263LeufsTer4)
 gnomAD v4
3g.45476525A>CCA352423685LARS2c.916A>C (p.Ile306Leu)
c.*784A>C (n.*784A>C)
c.787A>C (p.Ile263Leu)
3g.45476525A>GCA352423686LARS2c.916A>G (p.Ile306Val)
c.*784A>G (n.*784A>G)
c.787A>G (p.Ile263Val)
3g.45476525A>TCA352423687LARS2c.916A>T (p.Ile306Phe)
c.*784A>T (n.*784A>T)
c.787A>T (p.Ile263Phe)
3g.45476526T>ACA352423689LARS2c.917T>A (p.Ile306Asn)
c.*785T>A (n.*785T>A)
c.788T>A (p.Ile263Asn)
3g.45476526T>CCA73581373LARS2c.917T>C (p.Ile306Thr)
c.*785T>C (n.*785T>C)
c.788T>C (p.Ile263Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.45476526T>GCA352423691LARS2c.917T>G (p.Ile306Ser)
c.*785T>G (n.*785T>G)
c.788T>G (p.Ile263Ser)
3g.45476526T=CA1361691380LARS2c.917T= (p.Ile306=)
c.*785T= (n.*785T=)
c.788T= (p.Ile263=)
3g.45476527T>ACA433433030LARS2c.918T>A (p.Ile306=)
c.*786T>A (n.*786T>A)
c.789T>A (p.Ile263=)
 gnomAD v4
3g.45476527T>CCA433433031LARS2c.918T>C (p.Ile306=)
c.*786T>C (n.*786T>C)
c.789T>C (p.Ile263=)
3g.45476527T>GCA2349452LARS2c.918T>G (p.Ile306Met)
c.*786T>G (n.*786T>G)
c.789T>G (p.Ile263Met)
 dbSNP ExAC gnomAD v2
3g.45476527T=CA1361691381LARS2c.918T= (p.Ile306=)
c.*786T= (n.*786T=)
c.789T= (p.Ile263=)
3g.45476528T>ACA352423694LARS2c.919T>A (p.Tyr307Asn)
c.*787T>A (n.*787T>A)
c.790T>A (p.Tyr264Asn)
 ClinVar dbSNP
3g.45476528T>CCA352423696LARS2c.919T>C (p.Tyr307His)
c.*787T>C (n.*787T>C)
c.790T>C (p.Tyr264His)
 gnomAD v4
3g.45476528T>GCA352423697LARS2c.919T>G (p.Tyr307Asp)
c.*787T>G (n.*787T>G)
c.790T>G (p.Tyr264Asp)
3g.45476529A=CA1361691382LARS2c.920A= (p.Tyr307=)
c.*788A= (n.*788A=)
c.791A= (p.Tyr264=)
3g.45476529A>CCA352423701LARS2c.920A>C (p.Tyr307Ser)
c.*788A>C (n.*788A>C)
c.791A>C (p.Tyr264Ser)
3g.45476529A>GCA352423702LARS2c.920A>G (p.Tyr307Cys)
c.*788A>G (n.*788A>G)
c.791A>G (p.Tyr264Cys)
 dbSNP gnomAD v4
3g.45476529A>TCA352423699LARS2c.920A>T (p.Tyr307Phe)
c.*788A>T (n.*788A>T)
c.791A>T (p.Tyr264Phe)
3g.45476529_45476530insGCTTCTTTCTCAGAACACAAACACTATAACACCA2665386319LARS2c.920_921insGCTTCTTTCTCAGAACACAAACACTATAACAC (p.Tyr307Ter)
c.*788_*789insGCTTCTTTCTCAGAACACAAACACTATAACAC (n.*788_*789insGCTTCTTTCTCAGAACACAAACACTATAACAC)
c.791_792insGCTTCTTTCTCAGAACACAAACACTATAACAC (p.Tyr264Ter)
 gnomAD v4
3g.45476530T>ACA2349453LARS2c.921T>A (p.Tyr307Ter)
c.*789T>A (n.*789T>A)
c.792T>A (p.Tyr264Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476530T>CCA433433032LARS2c.921T>C (p.Tyr307=)
c.*789T>C (n.*789T>C)
c.792T>C (p.Tyr264=)
3g.45476530T>GCA352423703LARS2c.921T>G (p.Tyr307Ter)
c.*789T>G (n.*789T>G)
c.792T>G (p.Tyr264Ter)
3g.45476530T=CA1361691383LARS2c.921T= (p.Tyr307=)
c.*789T= (n.*789T=)
c.792T= (p.Tyr264=)
3g.45476531G>ACA352423705LARS2c.922G>A (p.Gly308Ser)
c.*790G>A (n.*790G>A)
c.793G>A (p.Gly265Ser)
3g.45476531G>CCA352423707LARS2c.922G>C (p.Gly308Arg)
c.*790G>C (n.*790G>C)
c.793G>C (p.Gly265Arg)
3g.45476531G>TCA352423709LARS2c.922G>T (p.Gly308Cys)
c.*790G>T (n.*790G>T)
c.793G>T (p.Gly265Cys)
3g.45476532G>ACA352423713LARS2c.923G>A (p.Gly308Asp)
c.*791G>A (n.*791G>A)
c.794G>A (p.Gly265Asp)
 dbSNP
3g.45476532G>CCA352423711LARS2c.923G>C (p.Gly308Ala)
c.*791G>C (n.*791G>C)
c.794G>C (p.Gly265Ala)
3g.45476532G=CA1361691384LARS2c.923G= (p.Gly308=)
c.*791G= (n.*791G=)
c.794G= (p.Gly265=)
3g.45476532G>TCA352423710LARS2c.923G>T (p.Gly308Val)
c.*791G>T (n.*791G>T)
c.794G>T (p.Gly265Val)
3g.45476533C>ACA433433033LARS2c.924C>A (p.Gly308=)
c.*792C>A (n.*792C>A)
c.795C>A (p.Gly265=)
 dbSNP
3g.45476533C=CA1361691385LARS2c.924C= (p.Gly308=)
c.*792C= (n.*792C=)
c.795C= (p.Gly265=)
3g.45476533C>GCA433433034LARS2c.924C>G (p.Gly308=)
c.*792C>G (n.*792C>G)
c.795C>G (p.Gly265=)
3g.45476533C>TCA433433035LARS2c.924C>T (p.Gly308=)
c.*792C>T (n.*792C>T)
c.795C>T (p.Gly265=)
 gnomAD v4
3g.45476534A>CCA352423715LARS2c.925A>C (p.Thr309Pro)
c.*793A>C (n.*793A>C)
c.796A>C (p.Thr266Pro)
3g.45476534A>GCA352423717LARS2c.925A>G (p.Thr309Ala)
c.*793A>G (n.*793A>G)
c.796A>G (p.Thr266Ala)
3g.45476534A>TCA352423718LARS2c.925A>T (p.Thr309Ser)
c.*793A>T (n.*793A>T)
c.796A>T (p.Thr266Ser)
3g.45476535C>ACA352423720LARS2c.926C>A (p.Thr309Asn)
c.*794C>A (n.*794C>A)
c.797C>A (p.Thr266Asn)
3g.45476535C>GCA352423722LARS2c.926C>G (p.Thr309Ser)
c.*794C>G (n.*794C>G)
c.797C>G (p.Thr266Ser)
3g.45476535C>TCA352423724LARS2c.926C>T (p.Thr309Ile)
c.*794C>T (n.*794C>T)
c.797C>T (p.Thr266Ile)
 dbSNP
3g.45476536C>ACA433433036LARS2c.927C>A (p.Thr309=)
c.*795C>A (n.*795C>A)
c.798C>A (p.Thr266=)
3g.45476536C>GCA433433037LARS2c.927C>G (p.Thr309=)
c.*795C>G (n.*795C>G)
c.798C>G (p.Thr266=)
 gnomAD v4
3g.45476536C>TCA433433038LARS2c.927C>T (p.Thr309=)
c.*795C>T (n.*795C>T)
c.798C>T (p.Thr266=)
3g.45476537T>ACA352423726LARS2c.928T>A (p.Ser310Thr)
c.*796T>A (n.*796T>A)
c.799T>A (p.Ser267Thr)
3g.45476537T>CCA352423729LARS2c.928T>C (p.Ser310Pro)
c.*796T>C (n.*796T>C)
c.799T>C (p.Ser267Pro)
3g.45476537T>GCA352423727LARS2c.928T>G (p.Ser310Ala)
c.*796T>G (n.*796T>G)
c.799T>G (p.Ser267Ala)
3g.45476538C>ACA352423731LARS2c.929C>A (p.Ser310Tyr)
c.*797C>A (n.*797C>A)
c.800C>A (p.Ser267Tyr)
3g.45476538C=CA1361691386LARS2c.929C= (p.Ser310=)
c.*797C= (n.*797C=)
c.800C= (p.Ser267=)
3g.45476538C>GCA73581400LARS2c.929C>G (p.Ser310Cys)
c.*797C>G (n.*797C>G)
c.800C>G (p.Ser267Cys)
 dbSNP gnomAD v3 gnomAD v4
3g.45476538C>TCA352423733LARS2c.929C>T (p.Ser310Phe)
c.*797C>T (n.*797C>T)
c.800C>T (p.Ser267Phe)
 gnomAD v4
3g.45476539C>ACA433433039LARS2c.930C>A (p.Ser310=)
c.*798C>A (n.*798C>A)
c.801C>A (p.Ser267=)
3g.45476539C>GCA433433041LARS2c.930C>G (p.Ser310=)
c.*798C>G (n.*798C>G)
c.801C>G (p.Ser267=)
3g.45476539C>TCA433433040LARS2c.930C>T (p.Ser310=)
c.*798C>T (n.*798C>T)
c.801C>T (p.Ser267=)
3g.45476540C>ACA352423735LARS2c.931C>A (p.His311Asn)
c.*799C>A (n.*799C>A)
c.802C>A (p.His268Asn)
 gnomAD v4
3g.45476540C=CA1361691387LARS2c.931C= (p.His311=)
c.*799C= (n.*799C=)
c.802C= (p.His268=)
3g.45476540C>GCA352423737LARS2c.931C>G (p.His311Asp)
c.*799C>G (n.*799C>G)
c.802C>G (p.His268Asp)
3g.45476540C>TCA352423738LARS2c.931C>T (p.His311Tyr)
c.*799C>T (n.*799C>T)
c.802C>T (p.His268Tyr)
 dbSNP COSMIC
3g.45476541A>CCA352423740LARS2c.932A>C (p.His311Pro)
c.*800A>C (n.*800A>C)
c.803A>C (p.His268Pro)
3g.45476541A>GCA352423742LARS2c.932A>G (p.His311Arg)
c.*800A>G (n.*800A>G)
c.803A>G (p.His268Arg)
3g.45476541A>TCA352423743LARS2c.932A>T (p.His311Leu)
c.*800A>T (n.*800A>T)
c.803A>T (p.His268Leu)
 gnomAD v4
3g.45476542C>ACA352423744LARS2c.933C>A (p.His311Gln)
c.*801C>A (n.*801C>A)
c.804C>A (p.His268Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.45476542C=CA1361691388LARS2c.933C= (p.His311=)
c.*801C= (n.*801C=)
c.804C= (p.His268=)
3g.45476542C>GCA352423746LARS2c.933C>G (p.His311Gln)
c.*801C>G (n.*801C>G)
c.804C>G (p.His268Gln)
3g.45476542C>TCA2349454LARS2c.933C>T (p.His311=)
c.*801C>T (n.*801C>T)
c.804C>T (p.His268=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.45476543G>ACA2349455LARS2c.934G>A (p.Val312Met)
c.*802G>A (n.*802G>A)
c.805G>A (p.Val269Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476543G>CCA73581414LARS2c.934G>C (p.Val312Leu)
c.*802G>C (n.*802G>C)
c.805G>C (p.Val269Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.45476543G=CA1361691389LARS2c.934G= (p.Val312=)
c.*802G= (n.*802G=)
c.805G= (p.Val269=)
3g.45476543G>TCA352423749LARS2c.934G>T (p.Val312Leu)
c.*802G>T (n.*802G>T)
c.805G>T (p.Val269Leu)
 dbSNP gnomAD v2
3g.45476544T>ACA352423752LARS2c.935T>A (p.Val312Glu)
c.*803T>A (n.*803T>A)
c.806T>A (p.Val269Glu)
3g.45476544T>CCA352423753LARS2c.935T>C (p.Val312Ala)
c.*803T>C (n.*803T>C)
c.806T>C (p.Val269Ala)
3g.45476544T>GCA352423755LARS2c.935T>G (p.Val312Gly)
c.*803T>G (n.*803T>G)
c.806T>G (p.Val269Gly)
3g.45476545G>ACA433433042LARS2c.936G>A (p.Val312=)
c.*804G>A (n.*804G>A)
c.807G>A (p.Val269=)
3g.45476545G>CCA433433044LARS2c.936G>C (p.Val312=)
c.*804G>C (n.*804G>C)
c.807G>C (p.Val269=)
3g.45476545G>TCA433433043LARS2c.936G>T (p.Val312=)
c.*804G>T (n.*804G>T)
c.807G>T (p.Val269=)
3g.45476546G>ACA352423757LARS2c.937G>A (p.Ala313Thr)
c.*805G>A (n.*805G>A)
c.808G>A (p.Ala270Thr)
3g.45476546G>CCA352423758LARS2c.937G>C (p.Ala313Pro)
c.*805G>C (n.*805G>C)
c.808G>C (p.Ala270Pro)
3g.45476546G>TCA352423760LARS2c.937G>T (p.Ala313Ser)
c.*805G>T (n.*805G>T)
c.808G>T (p.Ala270Ser)
3g.45476547C>ACA352423762LARS2c.938C>A (p.Ala313Asp)
c.*806C>A (n.*806C>A)
c.809C>A (p.Ala270Asp)
3g.45476547C>GCA352423764LARS2c.938C>G (p.Ala313Gly)
c.*806C>G (n.*806C>G)
c.809C>G (p.Ala270Gly)
3g.45476547C>TCA352423765LARS2c.938C>T (p.Ala313Val)
c.*806C>T (n.*806C>T)
c.809C>T (p.Ala270Val)
3g.45476548C>ACA433433045LARS2c.939C>A (p.Ala313=)
c.*807C>A (n.*807C>A)
c.810C>A (p.Ala270=)
3g.45476548C>GCA433433046LARS2c.939C>G (p.Ala313=)
c.*807C>G (n.*807C>G)
c.810C>G (p.Ala270=)
3g.45476548C>TCA433433047LARS2c.939C>T (p.Ala313=)
c.*807C>T (n.*807C>T)
c.810C>T (p.Ala270=)
3g.45476549A>CCA352423767LARS2c.940A>C (p.Ile314Leu)
c.*808A>C (n.*808A>C)
c.811A>C (p.Ile271Leu)
 gnomAD v4
3g.45476549A>GCA352423768LARS2c.940A>G (p.Ile314Val)
c.*808A>G (n.*808A>G)
c.811A>G (p.Ile271Val)
3g.45476549A>TCA352423769LARS2c.940A>T (p.Ile314Phe)
c.*808A>T (n.*808A>T)
c.811A>T (p.Ile271Phe)
 gnomAD v4
3g.45476550T>ACA352423774LARS2c.941T>A (p.Ile314Asn)
c.*809T>A (n.*809T>A)
c.812T>A (p.Ile271Asn)
3g.45476550T>CCA352423772LARS2c.941T>C (p.Ile314Thr)
c.*809T>C (n.*809T>C)
c.812T>C (p.Ile271Thr)
3g.45476550T>GCA352423773LARS2c.941T>G (p.Ile314Ser)
c.*809T>G (n.*809T>G)
c.812T>G (p.Ile271Ser)
3g.45476551C>ACA433433048LARS2c.942C>A (p.Ile314=)
c.*810C>A (n.*810C>A)
c.813C>A (p.Ile271=)
3g.45476551C>GCA352423776LARS2c.942C>G (p.Ile314Met)
c.*810C>G (n.*810C>G)
c.813C>G (p.Ile271Met)
 gnomAD v4
3g.45476551C>TCA433433049LARS2c.942C>T (p.Ile314=)
c.*810C>T (n.*810C>T)
c.813C>T (p.Ile271=)
 COSMIC
3g.45476552T>ACA352423778LARS2c.943T>A (p.Ser315Thr)
c.*811T>A (n.*811T>A)
c.814T>A (p.Ser272Thr)
3g.45476552T>CCA2349456LARS2c.943T>C (p.Ser315Pro)
c.*811T>C (n.*811T>C)
c.814T>C (p.Ser272Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476552T>GCA352423779LARS2c.943T>G (p.Ser315Ala)
c.*811T>G (n.*811T>G)
c.814T>G (p.Ser272Ala)
3g.45476552T=CA1361691390LARS2c.943T= (p.Ser315=)
c.*811T= (n.*811T=)
c.814T= (p.Ser272=)
3g.45476553C>ACA352423781LARS2c.944C>A (p.Ser315Ter)
c.*812C>A (n.*812C>A)
c.815C>A (p.Ser272Ter)
3g.45476553C=CA1361691391LARS2c.944C= (p.Ser315=)
c.*812C= (n.*812C=)
c.815C= (p.Ser272=)
3g.45476553C>GCA352423783LARS2c.944C>G (p.Ser315Trp)
c.*812C>G (n.*812C>G)
c.815C>G (p.Ser272Trp)
3g.45476553C>TCA2349457LARS2c.944C>T (p.Ser315Leu)
c.*812C>T (n.*812C>T)
c.815C>T (p.Ser272Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476554G>ACA2349459LARS2c.945G>A (p.Ser315=)
c.*813G>A (n.*813G>A)
c.816G>A (p.Ser272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476554G>CCA2349458LARS2c.945G>C (p.Ser315=)
c.*813G>C (n.*813G>C)
c.816G>C (p.Ser272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476554G=CA1361691392LARS2c.945G= (p.Ser315=)
c.*813G= (n.*813G=)
c.816G= (p.Ser272=)
3g.45476554G>TCA433433050LARS2c.945G>T (p.Ser315=)
c.*813G>T (n.*813G>T)
c.816G>T (p.Ser272=)
 dbSNP gnomAD v2
3g.45476555C>ACA352423787LARS2c.946C>A (p.Pro316Thr)
c.*814C>A (n.*814C>A)
c.817C>A (p.Pro273Thr)
3g.45476555C>GCA352423788LARS2c.946C>G (p.Pro316Ala)
c.*814C>G (n.*814C>G)
c.817C>G (p.Pro273Ala)
3g.45476555C>TCA352423789LARS2c.946C>T (p.Pro316Ser)
c.*814C>T (n.*814C>T)
c.817C>T (p.Pro273Ser)
3g.45476556C>ACA352423791LARS2c.947C>A (p.Pro316His)
c.*815C>A (n.*815C>A)
c.818C>A (p.Pro273His)
3g.45476556C=CA1361691393LARS2c.947C= (p.Pro316=)
c.*815C= (n.*815C=)
c.818C= (p.Pro273=)
3g.45476556C>GCA352423793LARS2c.947C>G (p.Pro316Arg)
c.*815C>G (n.*815C>G)
c.818C>G (p.Pro273Arg)
3g.45476556C>TCA352423790LARS2c.947C>T (p.Pro316Leu)
c.*815C>T (n.*815C>T)
c.818C>T (p.Pro273Leu)
 dbSNP
3g.45476557C>ACA433433051LARS2c.948C>A (p.Pro316=)
c.*816C>A (n.*816C>A)
c.819C>A (p.Pro273=)
3g.45476557C=CA1361691394LARS2c.948C= (p.Pro316=)
c.*816C= (n.*816C=)
c.819C= (p.Pro273=)
3g.45476557C>GCA433433052LARS2c.948C>G (p.Pro316=)
c.*816C>G (n.*816C>G)
c.819C>G (p.Pro273=)
3g.45476557C>TCA433433053LARS2c.948C>T (p.Pro316=)
c.*816C>T (n.*816C>T)
c.819C>T (p.Pro273=)
 dbSNP gnomAD v4
3g.45476558A>CCA352423797LARS2c.949A>C (p.Ser317Arg)
c.*817A>C (n.*817A>C)
c.820A>C (p.Ser274Arg)
3g.45476558A>GCA352423795LARS2c.949A>G (p.Ser317Gly)
c.*817A>G (n.*817A>G)
c.820A>G (p.Ser274Gly)
3g.45476558A>TCA352423798LARS2c.949A>T (p.Ser317Cys)
c.*817A>T (n.*817A>T)
c.820A>T (p.Ser274Cys)
3g.45476559G>ACA352423800LARS2c.950G>A (p.Ser317Asn)
c.*818G>A (n.*818G>A)
c.821G>A (p.Ser274Asn)
 dbSNP
3g.45476559G>CCA352423801LARS2c.950G>C (p.Ser317Thr)
c.*818G>C (n.*818G>C)
c.821G>C (p.Ser274Thr)
3g.45476559G=CA1361691395LARS2c.950G= (p.Ser317=)
c.*818G= (n.*818G=)
c.821G= (p.Ser274=)
3g.45476559G>TCA352423803LARS2c.950G>T (p.Ser317Ile)
c.*818G>T (n.*818G>T)
c.821G>T (p.Ser274Ile)
3g.45476560C>ACA352423805LARS2c.951C>A (p.Ser317Arg)
c.*819C>A (n.*819C>A)
c.822C>A (p.Ser274Arg)
3g.45476560C>GCA352423806LARS2c.951C>G (p.Ser317Arg)
c.*819C>G (n.*819C>G)
c.822C>G (p.Ser274Arg)
3g.45476560C>TCA433433054LARS2c.951C>T (p.Ser317=)
c.*819C>T (n.*819C>T)
c.822C>T (p.Ser274=)
3g.45476561C>ACA352423808LARS2c.952C>A (p.His318Asn)
c.*820C>A (n.*820C>A)
c.823C>A (p.His275Asn)
3g.45476561C>GCA352423810LARS2c.952C>G (p.His318Asp)
c.*820C>G (n.*820C>G)
c.823C>G (p.His275Asp)
3g.45476561C>TCA352423812LARS2c.952C>T (p.His318Tyr)
c.*820C>T (n.*820C>T)
c.823C>T (p.His275Tyr)
3g.45476562A=CA1361691396LARS2c.953A= (p.His318=)
c.*821A= (n.*821A=)
c.824A= (p.His275=)
3g.45476562A>CCA352423813LARS2c.953A>C (p.His318Pro)
c.*821A>C (n.*821A>C)
c.824A>C (p.His275Pro)
3g.45476562A>GCA2349460LARS2c.953A>G (p.His318Arg)
c.*821A>G (n.*821A>G)
c.824A>G (p.His275Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476562A>TCA352423816LARS2c.953A>T (p.His318Leu)
c.*821A>T (n.*821A>T)
c.824A>T (p.His275Leu)
3g.45476563C>ACA352423817LARS2c.954C>A (p.His318Gln)
c.*822C>A (n.*822C>A)
c.825C>A (p.His275Gln)
3g.45476563C>GCA352423818LARS2c.954C>G (p.His318Gln)
c.*822C>G (n.*822C>G)
c.825C>G (p.His275Gln)
3g.45476563C>TCA433433055LARS2c.954C>T (p.His318=)
c.*822C>T (n.*822C>T)
c.825C>T (p.His275=)

Number of alleles fetched