Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.132327595A>CCA375327636SETXc.4003T>G (p.Ser1335Ala)
n.4187T>G
9g.132327595A>GCA375327639SETXc.4003T>C (p.Ser1335Pro)
n.4187T>C
9g.132327595A>TCA375327638SETXc.4003T>A (p.Ser1335Thr)
n.4187T>A
9g.132327596C>ACA467807352SETXc.4002G>T (p.Leu1334=)
n.4186G>T
9g.132327596C>GCA467807354SETXc.4002G>C (p.Leu1334=)
n.4186G>C
gnomAD v4
9g.132327596C>TCA467807355SETXc.4002G>A (p.Leu1334=)
n.4186G>A
9g.132327597A>CCA375327641SETXc.4001T>G (p.Leu1334Arg)
n.4185T>G
9g.132327597A>GCA375327642SETXc.4001T>C (p.Leu1334Pro)
n.4185T>C
9g.132327597A>TCA375327643SETXc.4001T>A (p.Leu1334Gln)
n.4185T>A
9g.132327598G>ACA467807359SETXc.4000C>T (p.Leu1334=)
n.4184C>T
dbSNP
9g.132327598G>CCA375327645SETXc.4000C>G (p.Leu1334Val)
n.4184C>G
9g.132327598G=CA1882147420SETXc.4000C= (p.Leu1334=)
n.4184C=
9g.132327598G>TCA375327647SETXc.4000C>A (p.Leu1334Met)
n.4184C>A
gnomAD v4
9g.132327599G>ACA467807361SETXc.3999C>T (p.Asn1333=)
n.4183C>T
dbSNP gnomAD v4
9g.132327599G>CCA375327649SETXc.3999C>G (p.Asn1333Lys)
n.4183C>G
9g.132327599G=CA1882147421SETXc.3999C= (p.Asn1333=)
n.4183C=
9g.132327599G>TCA375327651SETXc.3999C>A (p.Asn1333Lys)
n.4183C>A
9g.132327600T>ACA375327654SETXc.3998A>T (p.Asn1333Ile)
n.4182A>T
9g.132327600T>CCA375327655SETXc.3998A>G (p.Asn1333Ser)
n.4182A>G
9g.132327600T>GCA375327657SETXc.3998A>C (p.Asn1333Thr)
n.4182A>C
9g.132327601T>ACA375327660SETXc.3997A>T (p.Asn1333Tyr)
n.4181A>T
9g.132327601T>CCA375327661SETXc.3997A>G (p.Asn1333Asp)
n.4181A>G
9g.132327601T>GCA375327662SETXc.3997A>C (p.Asn1333His)
n.4181A>C
9g.132327602C>ACA375327665SETXc.3996G>T (p.Gln1332His)
n.4180G>T
9g.132327602C>GCA375327667SETXc.3996G>C (p.Gln1332His)
n.4180G>C
9g.132327602C>TCA467807371SETXc.3996G>A (p.Gln1332=)
n.4180G>A
9g.132327603T>ACA375327669SETXc.3995A>T (p.Gln1332Leu)
n.4179A>T
9g.132327603T>CCA375327671SETXc.3995A>G (p.Gln1332Arg)
n.4179A>G
9g.132327603T>GCA375327673SETXc.3995A>C (p.Gln1332Pro)
n.4179A>C
9g.132327603_132327606delinsTGAGCA1882147422SETXc.3992_3995delinsCTCA (p.Pro1331=)
n.4176_4179delinsCTCA
9g.132327604G>ACA375327675SETXc.3994C>T (p.Gln1332Ter)
n.4178C>T
9g.132327604G>CCA375327677SETXc.3994C>G (p.Gln1332Glu)
n.4178C>G
gnomAD v4
9g.132327604G>TCA375327679SETXc.3994C>A (p.Gln1332Lys)
n.4178C>A
9g.132327607_132327609delCA5297289SETXc.3992_3994del (p.Pro1331del)
n.4176_4178del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327605A>CCA467807380SETXc.3993T>G (p.Pro1331=)
n.4177T>G
9g.132327605A>GCA467807382SETXc.3993T>C (p.Pro1331=)
n.4177T>C
9g.132327605A>TCA467807383SETXc.3993T>A (p.Pro1331=)
n.4177T>A
9g.132327606G>ACA5297290SETXc.3992C>T (p.Pro1331Leu)
n.4176C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327606G>CCA375327683SETXc.3992C>G (p.Pro1331Arg)
n.4176C>G
9g.132327606G=CA1882147423SETXc.3992C= (p.Pro1331=)
n.4176C=
9g.132327606G>TCA375327685SETXc.3992C>A (p.Pro1331His)
n.4176C>A
9g.132327607G>ACA5297291SETXc.3991C>T (p.Pro1331Ser)
n.4175C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327607G>CCA375327689SETXc.3991C>G (p.Pro1331Ala)
n.4175C>G
9g.132327607G=CA1882147424SETXc.3991C= (p.Pro1331=)
n.4175C=
9g.132327607G>TCA375327690SETXc.3991C>A (p.Pro1331Thr)
n.4175C>A
9g.132327608A>CCA467807394SETXc.3990T>G (p.Ser1330=)
n.4174T>G
9g.132327608A>GCA467807398SETXc.3990T>C (p.Ser1330=)
n.4174T>C
9g.132327608A>TCA467807396SETXc.3990T>A (p.Ser1330=)
n.4174T>A
9g.132327609G>ACA200807584SETXc.3989C>T (p.Ser1330Phe)
n.4173C>T
ClinVar dbSNP gnomAD v4
9g.132327609G>CCA375327696SETXc.3989C>G (p.Ser1330Cys)
n.4173C>G
9g.132327609G=CA1882147425SETXc.3989C= (p.Ser1330=)
n.4173C=
9g.132327609G>TCA375327694SETXc.3989C>A (p.Ser1330Tyr)
n.4173C>A
9g.132327610A>CCA375327698SETXc.3988T>G (p.Ser1330Ala)
n.4172T>G
9g.132327610A>GCA375327700SETXc.3988T>C (p.Ser1330Pro)
n.4172T>C
9g.132327610A>TCA375327702SETXc.3988T>A (p.Ser1330Thr)
n.4172T>A
9g.132327611A>CCA375327704SETXc.3987T>G (p.Ile1329Met)
n.4171T>G
9g.132327611A>GCA467807408SETXc.3987T>C (p.Ile1329=)
n.4171T>C
9g.132327611A>TCA467807410SETXc.3987T>A (p.Ile1329=)
n.4171T>A
9g.132327612A>CCA375327706SETXc.3986T>G (p.Ile1329Ser)
n.4170T>G
9g.132327612A>GCA375327708SETXc.3986T>C (p.Ile1329Thr)
n.4170T>C
9g.132327612A>TCA375327710SETXc.3986T>A (p.Ile1329Asn)
n.4170T>A
9g.132327613T>ACA375327711SETXc.3985A>T (p.Ile1329Phe)
n.4169A>T
9g.132327613T>CCA375327713SETXc.3985A>G (p.Ile1329Val)
n.4169A>G
9g.132327613T>GCA375327716SETXc.3985A>C (p.Ile1329Leu)
n.4169A>C
9g.132327614T>ACA375327718SETXc.3984A>T (p.Leu1328Phe)
n.4168A>T
9g.132327614T>CCA467807418SETXc.3984A>G (p.Leu1328=)
n.4168A>G
9g.132327614T>GCA375327719SETXc.3984A>C (p.Leu1328Phe)
n.4168A>C
9g.132327615A>CCA375327723SETXc.3983T>G (p.Leu1328Ter)
n.4167T>G
9g.132327615A>GCA375327725SETXc.3983T>C (p.Leu1328Ser)
n.4167T>C
9g.132327615A>TCA375327721SETXc.3983T>A (p.Leu1328Ter)
n.4167T>A
9g.132327616A>CCA375327727SETXc.3982T>G (p.Leu1328Val)
n.4166T>G
9g.132327616A>GCA467807426SETXc.3982T>C (p.Leu1328=)
n.4166T>C
9g.132327616A>TCA375327729SETXc.3982T>A (p.Leu1328Ile)
n.4166T>A
9g.132327617T>ACA375327731SETXc.3981A>T (p.Lys1327Asn)
n.4165A>T
9g.132327617T>CCA467807431SETXc.3981A>G (p.Lys1327=)
n.4165A>G
ClinVar dbSNP gnomAD v4
9g.132327617T>GCA375327732SETXc.3981A>C (p.Lys1327Asn)
n.4165A>C
9g.132327617T=CA1882147426SETXc.3981A= (p.Lys1327=)
n.4165A=
9g.132327618T>ACA375327737SETXc.3980A>T (p.Lys1327Ile)
n.4164A>T
9g.132327618T>CCA375327736SETXc.3980A>G (p.Lys1327Arg)
n.4164A>G
9g.132327618T>GCA375327735SETXc.3980A>C (p.Lys1327Thr)
n.4164A>C
9g.132327619T>ACA375327740SETXc.3979A>T (p.Lys1327Ter)
n.4163A>T
9g.132327619T>CCA375327742SETXc.3979A>G (p.Lys1327Glu)
n.4163A>G
9g.132327619T>GCA375327744SETXc.3979A>C (p.Lys1327Gln)
n.4163A>C
gnomAD v4
9g.132327620A=CA1882147427SETXc.3978T= (p.Thr1326=)
n.4162T=
9g.132327620A>CCA467807439SETXc.3978T>G (p.Thr1326=)
n.4162T>G
dbSNP
9g.132327620A>GCA467807441SETXc.3978T>C (p.Thr1326=)
n.4162T>C
gnomAD v4
9g.132327620A>TCA467807443SETXc.3978T>A (p.Thr1326=)
n.4162T>A
gnomAD v4
9g.132327621G>ACA375327747SETXc.3977C>T (p.Thr1326Ile)
n.4161C>T
gnomAD v4
9g.132327621G>CCA375327749SETXc.3977C>G (p.Thr1326Ser)
n.4161C>G
dbSNP gnomAD v3 gnomAD v4
9g.132327621G=CA1882147428SETXc.3977C= (p.Thr1326=)
n.4161C=
9g.132327621G>TCA375327750SETXc.3977C>A (p.Thr1326Asn)
n.4161C>A
9g.132327622T>ACA375327753SETXc.3976A>T (p.Thr1326Ser)
n.4160A>T
9g.132327622T>CCA375327757SETXc.3976A>G (p.Thr1326Ala)
n.4160A>G
gnomAD v4
9g.132327622T>GCA375327755SETXc.3976A>C (p.Thr1326Pro)
n.4160A>C
9g.132327623C>ACA5297292SETXc.3975G>T (p.Lys1325Asn)
n.4159G>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327623C=CA1882147429SETXc.3975G= (p.Lys1325=)
n.4159G=
9g.132327623C>GCA375327760SETXc.3975G>C (p.Lys1325Asn)
n.4159G>C
9g.132327623C>TCA467807454SETXc.3975G>A (p.Lys1325=)
n.4159G>A
9g.132327624T>ACA375327763SETXc.3974A>T (p.Lys1325Met)
n.4158A>T
9g.132327624T>CCA375327766SETXc.3974A>G (p.Lys1325Arg)
n.4158A>G
ClinVar dbSNP gnomAD v4
9g.132327624T>GCA375327767SETXc.3974A>C (p.Lys1325Thr)
n.4158A>C
9g.132327624T=CA1882147430SETXc.3974A= (p.Lys1325=)
n.4158A=
9g.132327629dupCA2786136792SETXc.3974dup (p.Thr1326AspfsTer2)
n.4158dup
9g.132327625T>ACA375327770SETXc.3973A>T (p.Lys1325Ter)
n.4157A>T
9g.132327625T>CCA375327772SETXc.3973A>G (p.Lys1325Glu)
n.4157A>G
9g.132327625T>GCA375327774SETXc.3973A>C (p.Lys1325Gln)
n.4157A>C
9g.132327626T>ACA375327776SETXc.3972A>T (p.Lys1324Asn)
n.4156A>T
9g.132327626T>CCA5297293SETXc.3972A>G (p.Lys1324=)
n.4156A>G
dbSNP ExAC gnomAD v2
9g.132327626T>GCA375327779SETXc.3972A>C (p.Lys1324Asn)
n.4156A>C
9g.132327626T=CA1882147431SETXc.3972A= (p.Lys1324=)
n.4156A=
9g.132327627T>ACA375327781SETXc.3971A>T (p.Lys1324Ile)
n.4155A>T
9g.132327627T>CCA375327783SETXc.3971A>G (p.Lys1324Arg)
n.4155A>G
9g.132327627T>GCA375327784SETXc.3971A>C (p.Lys1324Thr)
n.4155A>C
9g.132327628T>ACA375327790SETXc.3970A>T (p.Lys1324Ter)
n.4154A>T
9g.132327628T>CCA375327789SETXc.3970A>G (p.Lys1324Glu)
n.4154A>G
dbSNP gnomAD v4
9g.132327628T>GCA375327787SETXc.3970A>C (p.Lys1324Gln)
n.4154A>C
ClinVar
9g.132327628T=CA1882147432SETXc.3970A= (p.Lys1324=)
n.4154A=
9g.132327629T>ACA467807478SETXc.3969A>T (p.Arg1323=)
n.4153A>T
9g.132327629T>CCA467807476SETXc.3969A>G (p.Arg1323=)
n.4153A>G
gnomAD v4
9g.132327629T>GCA467807474SETXc.3969A>C (p.Arg1323=)
n.4153A>C
gnomAD v4
9g.132327630C>ACA375327791SETXc.3968G>T (p.Arg1323Leu)
n.4152G>T
gnomAD v4
9g.132327630C=CA1882147433SETXc.3968G= (p.Arg1323=)
n.4152G=
9g.132327630C>GCA375327792SETXc.3968G>C (p.Arg1323Pro)
n.4152G>C
9g.132327630C>TCA233096SETXc.3968G>A (p.Arg1323Gln)
n.4152G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327631G>ACA200807604SETXc.3967C>T (p.Arg1323Ter)
n.4151C>T
dbSNP gnomAD v4
9g.132327631G>CCA375327793SETXc.3967C>G (p.Arg1323Gly)
n.4151C>G
9g.132327631G=CA1882147434SETXc.3967C= (p.Arg1323=)
n.4151C=
9g.132327631G>TCA467807487SETXc.3967C>A (p.Arg1323=)
n.4151C>A
9g.132327632G>ACA5297294SETXc.3966C>T (p.Thr1322=)
n.4150C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327632G>CCA467807492SETXc.3966C>G (p.Thr1322=)
n.4150C>G
9g.132327632G=CA1882147435SETXc.3966C= (p.Thr1322=)
n.4150C=
9g.132327632G>TCA5297295SETXc.3966C>A (p.Thr1322=)
n.4150C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327633G>ACA375327794SETXc.3965C>T (p.Thr1322Ile)
n.4149C>T
9g.132327633G>CCA375327795SETXc.3965C>G (p.Thr1322Ser)
n.4149C>G
gnomAD v4
9g.132327633G=CA1882147436SETXc.3965C= (p.Thr1322=)
n.4149C=
9g.132327633G>TCA5297296SETXc.3965C>A (p.Thr1322Asn)
n.4149C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327634T>ACA375327796SETXc.3964A>T (p.Thr1322Ser)
n.4148A>T
9g.132327634T>CCA375327797SETXc.3964A>G (p.Thr1322Ala)
n.4148A>G
dbSNP gnomAD v2 gnomAD v4
9g.132327634T>GCA375327798SETXc.3964A>C (p.Thr1322Pro)
n.4148A>C
9g.132327634T=CA1882147437SETXc.3964A= (p.Thr1322=)
n.4148A=
9g.132327635A>CCA375327799SETXc.3963T>G (p.Asp1321Glu)
n.4147T>G
9g.132327635A>GCA467807502SETXc.3963T>C (p.Asp1321=)
n.4147T>C
9g.132327635A>TCA375327800SETXc.3963T>A (p.Asp1321Glu)
n.4147T>A
9g.132327636T>ACA375327801SETXc.3962A>T (p.Asp1321Val)
n.4146A>T
9g.132327636T>CCA375327802SETXc.3962A>G (p.Asp1321Gly)
n.4146A>G
gnomAD v4
9g.132327636T>GCA375327805SETXc.3962A>C (p.Asp1321Ala)
n.4146A>C
9g.132327637C>ACA375327809SETXc.3961G>T (p.Asp1321Tyr)
n.4145G>T
9g.132327637C>GCA375327811SETXc.3961G>C (p.Asp1321His)
n.4145G>C
9g.132327637C>TCA375327812SETXc.3961G>A (p.Asp1321Asn)
n.4145G>A
COSMIC COSMIC
9g.132327638A=CA1882147438SETXc.3960T= (p.Val1320=)
n.4144T=
9g.132327638A>CCA467807514SETXc.3960T>G (p.Val1320=)
n.4144T>G
9g.132327638A>GCA467807516SETXc.3960T>C (p.Val1320=)
n.4144T>C
9g.132327638A>TCA467807512SETXc.3960T>A (p.Val1320=)
n.4144T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327639A>CCA375327815SETXc.3959T>G (p.Val1320Gly)
n.4143T>G
gnomAD v4
9g.132327639A>GCA375327817SETXc.3959T>C (p.Val1320Ala)
n.4143T>C
9g.132327639A>TCA375327819SETXc.3959T>A (p.Val1320Asp)
n.4143T>A
9g.132327640C>ACA375327821SETXc.3958G>T (p.Val1320Phe)
n.4142G>T
9g.132327640C=CA1882147439SETXc.3958G= (p.Val1320=)
n.4142G=
9g.132327640C>GCA375327823SETXc.3958G>C (p.Val1320Leu)
n.4142G>C
9g.132327640C>TCA375327825SETXc.3958G>A (p.Val1320Ile)
n.4142G>A
dbSNP gnomAD v3 gnomAD v4
9g.132327641T>ACA467807528SETXc.3957A>T (p.Val1319=)
n.4141A>T
9g.132327641T>CCA467807525SETXc.3957A>G (p.Val1319=)
n.4141A>G
gnomAD v4
9g.132327641T>GCA467807526SETXc.3957A>C (p.Val1319=)
n.4141A>C
9g.132327642A=CA1882147440SETXc.3956T= (p.Val1319=)
n.4140T=
9g.132327642A>CCA375327831SETXc.3956T>G (p.Val1319Gly)
n.4140T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327642A>GCA375327829SETXc.3956T>C (p.Val1319Ala)
n.4140T>C
9g.132327642A>TCA375327827SETXc.3956T>A (p.Val1319Glu)
n.4140T>A
9g.132327643C>ACA375327834SETXc.3955G>T (p.Val1319Leu)
n.4139G>T
9g.132327643C=CA1882147441SETXc.3955G= (p.Val1319=)
n.4139G=
9g.132327643C>GCA375327835SETXc.3955G>C (p.Val1319Leu)
n.4139G>C
9g.132327643C>TCA5297297SETXc.3955G>A (p.Val1319Ile)
n.4139G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327644T>ACA467807538SETXc.3954A>T (p.Gly1318=)
n.4138A>T
9g.132327644T>CCA467807542SETXc.3954A>G (p.Gly1318=)
n.4138A>G
9g.132327644T>GCA467807540SETXc.3954A>C (p.Gly1318=)
n.4138A>C
9g.132327645C>ACA375327836SETXc.3953G>T (p.Gly1318Val)
n.4137G>T
9g.132327645C=CA1882147442SETXc.3953G= (p.Gly1318=)
n.4137G=
9g.132327645C>GCA375327837SETXc.3953G>C (p.Gly1318Ala)
n.4137G>C
9g.132327645C>TCA5297298SETXc.3953G>A (p.Gly1318Glu)
n.4137G>A
dbSNP ExAC gnomAD v4
9g.132327646C>ACA375327840SETXc.3952G>T (p.Gly1318Ter)
n.4136G>T
9g.132327646C=CA1882147443SETXc.3952G= (p.Gly1318=)
n.4136G=
9g.132327646C>GCA200807628SETXc.3952G>C (p.Gly1318Arg)
n.4136G>C
dbSNP gnomAD v3 gnomAD v4
9g.132327646C>TCA375327843SETXc.3952G>A (p.Gly1318Arg)
n.4136G>A
9g.132327647A>CCA467807552SETXc.3951T>G (p.Val1317=)
n.4135T>G
9g.132327647A>GCA467807553SETXc.3951T>C (p.Val1317=)
n.4135T>C
9g.132327647A>TCA467807556SETXc.3951T>A (p.Val1317=)
n.4135T>A
9g.132327648A=CA1882147444SETXc.3950T= (p.Val1317=)
n.4134T=
9g.132327648A>CCA375327845SETXc.3950T>G (p.Val1317Gly)
n.4134T>G
9g.132327648A>GCA375327847SETXc.3950T>C (p.Val1317Ala)
n.4134T>C
ClinVar dbSNP gnomAD v4
9g.132327648A>TCA375327850SETXc.3950T>A (p.Val1317Asp)
n.4134T>A
gnomAD v4
9g.132327650_132327651insACCAAACACACCCAACACACA2786136806SETXc.3950_3951insGTTGGGTGTGTTTGGTTGT (p.Gly1318LeufsTer10)
n.4134_4135insGTTGGGTGTGTTTGGTTGT
9g.132327649C>ACA375327854SETXc.3949G>T (p.Val1317Phe)
n.4133G>T
9g.132327649C=CA1882147445SETXc.3949G= (p.Val1317=)
n.4133G=
9g.132327649C>GCA5297299SETXc.3949G>C (p.Val1317Leu)
n.4133G>C
dbSNP ExAC gnomAD v2
9g.132327649C>TCA5297300SETXc.3949G>A (p.Val1317Ile)
n.4133G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327650A=CA1882147446SETXc.3948T= (p.Thr1316=)
n.4132T=
9g.132327650A>CCA467807565SETXc.3948T>G (p.Thr1316=)
n.4132T>G
9g.132327650A>GCA467807567SETXc.3948T>C (p.Thr1316=)
n.4132T>C
9g.132327650A>TCA467807569SETXc.3948T>A (p.Thr1316=)
n.4132T>A
dbSNP gnomAD v3 gnomAD v4
9g.132327651G>ACA375327856SETXc.3947C>T (p.Thr1316Ile)
n.4131C>T
9g.132327651G>CCA375327860SETXc.3947C>G (p.Thr1316Ser)
n.4131C>G
9g.132327651G>TCA375327858SETXc.3947C>A (p.Thr1316Asn)
n.4131C>A
9g.132327652T>ACA375327862SETXc.3946A>T (p.Thr1316Ser)
n.4130A>T
9g.132327652T>CCA375327866SETXc.3946A>G (p.Thr1316Ala)
n.4130A>G
dbSNP gnomAD v2 gnomAD v4
9g.132327652T>GCA375327864SETXc.3946A>C (p.Thr1316Pro)
n.4130A>C
9g.132327652T=CA1882147447SETXc.3946A= (p.Thr1316=)
n.4130A=
9g.132327653T>ACA375327868SETXc.3945A>T (p.Lys1315Asn)
n.4129A>T
9g.132327653T>CCA467807579SETXc.3945A>G (p.Lys1315=)
n.4129A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.132327653T>GCA375327870SETXc.3945A>C (p.Lys1315Asn)
n.4129A>C
9g.132327653T=CA1882147448SETXc.3945A= (p.Lys1315=)
n.4129A=
9g.132327654T>ACA5297301SETXc.3944A>T (p.Lys1315Ile)
n.4128A>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327654T>CCA375327875SETXc.3944A>G (p.Lys1315Arg)
n.4128A>G
9g.132327654T>GCA375327873SETXc.3944A>C (p.Lys1315Thr)
n.4128A>C
9g.132327654T=CA1882147449SETXc.3944A= (p.Lys1315=)
n.4128A=
9g.132327655T>ACA375327877SETXc.3943A>T (p.Lys1315Ter)
n.4127A>T
9g.132327655T>CCA375327879SETXc.3943A>G (p.Lys1315Glu)
n.4127A>G
9g.132327655T>GCA375327881SETXc.3943A>C (p.Lys1315Gln)
n.4127A>C
9g.132327656G>ACA467807593SETXc.3942C>T (p.Gly1314=)
n.4126C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.132327656G>CCA467807595SETXc.3942C>G (p.Gly1314=)
n.4126C>G
9g.132327656G=CA1882147450SETXc.3942C= (p.Gly1314=)
n.4126C=
9g.132327656G>TCA467807597SETXc.3942C>A (p.Gly1314=)
n.4126C>A
9g.132327657C>ACA375327884SETXc.3941G>T (p.Gly1314Val)
n.4125G>T
dbSNP
9g.132327657C=CA1882147451SETXc.3941G= (p.Gly1314=)
n.4125G=
9g.132327657C>GCA375327886SETXc.3941G>C (p.Gly1314Ala)
n.4125G>C
9g.132327657C>TCA375327888SETXc.3941G>A (p.Gly1314Asp)
n.4125G>A
dbSNP gnomAD v3 gnomAD v4
9g.132327658C>ACA375327890SETXc.3940G>T (p.Gly1314Cys)
n.4124G>T
9g.132327658C>GCA375327892SETXc.3940G>C (p.Gly1314Arg)
n.4124G>C
9g.132327658C>TCA375327894SETXc.3940G>A (p.Gly1314Ser)
n.4124G>A
9g.132327659A>CCA375327896SETXc.3939T>G (p.His1313Gln)
n.4123T>G
9g.132327659A>GCA467807607SETXc.3939T>C (p.His1313=)
n.4123T>C
9g.132327659A>TCA375327898SETXc.3939T>A (p.His1313Gln)
n.4123T>A
9g.132327660T>ACA375327903SETXc.3938A>T (p.His1313Leu)
n.4122A>T
9g.132327660T>CCA375327901SETXc.3938A>G (p.His1313Arg)
n.4122A>G
gnomAD v4
9g.132327660T>GCA375327900SETXc.3938A>C (p.His1313Pro)
n.4122A>C
9g.132327661G>ACA375327906SETXc.3937C>T (p.His1313Tyr)
n.4121C>T
dbSNP
9g.132327661G>CCA5297302SETXc.3937C>G (p.His1313Asp)
n.4121C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327661G=CA1882147452SETXc.3937C= (p.His1313=)
n.4121C=
9g.132327661G>TCA375327908SETXc.3937C>A (p.His1313Asn)
n.4121C>A
gnomAD v4
9g.132327662A>CCA375327911SETXc.3936T>G (p.Asp1312Glu)
n.4120T>G
9g.132327662A>GCA467807618SETXc.3936T>C (p.Asp1312=)
n.4120T>C
9g.132327662A>TCA375327913SETXc.3936T>A (p.Asp1312Glu)
n.4120T>A
9g.132327663T>ACA375327915SETXc.3935A>T (p.Asp1312Val)
n.4119A>T
9g.132327663T>CCA375327917SETXc.3935A>G (p.Asp1312Gly)
n.4119A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327663T>GCA375327919SETXc.3935A>C (p.Asp1312Ala)
n.4119A>C
9g.132327663T=CA1882147453SETXc.3935A= (p.Asp1312=)
n.4119A=
9g.132327664C>ACA375327921SETXc.3934G>T (p.Asp1312Tyr)
n.4118G>T
9g.132327664C=CA1882147454SETXc.3934G= (p.Asp1312=)
n.4118G=
9g.132327664C>GCA375327923SETXc.3934G>C (p.Asp1312His)
n.4118G>C
9g.132327664C>TCA375327925SETXc.3934G>A (p.Asp1312Asn)
n.4118G>A
dbSNP
9g.132327665A>CCA467807766SETXc.3933T>G (p.Arg1311=)
n.4117T>G
9g.132327665A>GCA467807767SETXc.3933T>C (p.Arg1311=)
n.4117T>C
9g.132327665A>TCA467807768SETXc.3933T>A (p.Arg1311=)
n.4117T>A
9g.132327666C>ACA375327930SETXc.3932G>T (p.Arg1311Leu)
n.4116G>T
gnomAD v4
9g.132327666C=CA1882147455SETXc.3932G= (p.Arg1311=)
n.4116G=
9g.132327666C>GCA375327928SETXc.3932G>C (p.Arg1311Pro)
n.4116G>C
9g.132327666C>TCA5297303SETXc.3932G>A (p.Arg1311His)
n.4116G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327666_132327667insAAAAAAATAGACGAAGACTTTCTGATTCA1882147456SETXc.3931_3932insAATCAGAAAGTCTTCGTCTATTTTTTT (p.Arg1311delinsGlnSerGluSerLeuArgLeuPhePheCys)
n.4115_4116insAATCAGAAAGTCTTCGTCTATTTTTTT
dbSNP
9g.132327666_132327667insAAAAAAATAGACGAAGACTTTCTGATTGTGAAAGTACACA2546027584SETXc.3931_3932insTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTT (p.Arg1311LeufsTer22)
n.4115_4116insTGTACTTTCACAATCAGAAAGTCTTCGTCTATTTTTTT
9g.132327667G>ACA5297304SETXc.3931C>T (p.Arg1311Cys)
n.4115C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327667G>CCA375327934SETXc.3931C>G (p.Arg1311Gly)
n.4115C>G
9g.132327667G=CA1882147457SETXc.3931C= (p.Arg1311=)
n.4115C=
9g.132327667G>TCA375327936SETXc.3931C>A (p.Arg1311Ser)
n.4115C>A
9g.132327668T>ACA375327938SETXc.3930A>T (p.Leu1310Phe)
n.4114A>T
9g.132327668T>CCA467807769SETXc.3930A>G (p.Leu1310=)
n.4114A>G
gnomAD v4
9g.132327668T>GCA375327939SETXc.3930A>C (p.Leu1310Phe)
n.4114A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.132327668T=CA1882147458SETXc.3930A= (p.Leu1310=)
n.4114A=
9g.132327669A>CCA375327941SETXc.3929T>G (p.Leu1310Ter)
n.4113T>G
9g.132327669A>GCA375327943SETXc.3929T>C (p.Leu1310Ser)
n.4113T>C
9g.132327669A>TCA375327945SETXc.3929T>A (p.Leu1310Ter)
n.4113T>A
9g.132327670A>CCA375327947SETXc.3928T>G (p.Leu1310Val)
n.4112T>G
9g.132327670A>GCA467807770SETXc.3928T>C (p.Leu1310=)
n.4112T>C
9g.132327670A>TCA375327949SETXc.3928T>A (p.Leu1310Ile)
n.4112T>A
9g.132327671T>ACA375327951SETXc.3927A>T (p.Gln1309His)
n.4111A>T
gnomAD v4
9g.132327671T>CCA5297305SETXc.3927A>G (p.Gln1309=)
n.4111A>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327671T>GCA375327954SETXc.3927A>C (p.Gln1309His)
n.4111A>C
9g.132327671T=CA1882147459SETXc.3927A= (p.Gln1309=)
n.4111A=
9g.132327672T>ACA375327960SETXc.3926A>T (p.Gln1309Leu)
n.4110A>T
9g.132327672T>CCA375327956SETXc.3926A>G (p.Gln1309Arg)
n.4110A>G
9g.132327672T>GCA375327958SETXc.3926A>C (p.Gln1309Pro)
n.4110A>C
9g.132327673G>ACA375327962SETXc.3925C>T (p.Gln1309Ter)
n.4109C>T
9g.132327673G>CCA375327964SETXc.3925C>G (p.Gln1309Glu)
n.4109C>G
9g.132327673G>TCA375327966SETXc.3925C>A (p.Gln1309Lys)
n.4109C>A
9g.132327674A>CCA467807771SETXc.3924T>G (p.Ala1308=)
n.4108T>G
9g.132327674A>GCA467807772SETXc.3924T>C (p.Ala1308=)
n.4108T>C
gnomAD v4
9g.132327674A>TCA467807773SETXc.3924T>A (p.Ala1308=)
n.4108T>A
9g.132327675G>ACA375327968SETXc.3923C>T (p.Ala1308Val)
n.4107C>T
9g.132327675G>CCA375327970SETXc.3923C>G (p.Ala1308Gly)
n.4107C>G
9g.132327675G>TCA375327972SETXc.3923C>A (p.Ala1308Asp)
n.4107C>A
9g.132327676C>ACA375327974SETXc.3922G>T (p.Ala1308Ser)
n.4106G>T
9g.132327676C>GCA375327976SETXc.3922G>C (p.Ala1308Pro)
n.4106G>C
gnomAD v4
9g.132327676C>TCA375327978SETXc.3922G>A (p.Ala1308Thr)
n.4106G>A
gnomAD v4
9g.132327677T>ACA467807774SETXc.3921A>T (p.Val1307=)
n.4105A>T
gnomAD v4
9g.132327677T>CCA467807775SETXc.3921A>G (p.Val1307=)
n.4105A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327677T>GCA467807776SETXc.3921A>C (p.Val1307=)
n.4105A>C
9g.132327677T=CA1882147460SETXc.3921A= (p.Val1307=)
n.4105A=
9g.132327678A=CA1882147461SETXc.3920T= (p.Val1307=)
n.4104T=
9g.132327678A>CCA5297306SETXc.3920T>G (p.Val1307Gly)
n.4104T>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327678A>GCA375327981SETXc.3920T>C (p.Val1307Ala)
n.4104T>C
9g.132327678A>TCA375327982SETXc.3920T>A (p.Val1307Glu)
n.4104T>A
9g.132327679C>ACA375327988SETXc.3919G>T (p.Val1307Leu)
n.4103G>T
9g.132327679C>GCA375327986SETXc.3919G>C (p.Val1307Leu)
n.4103G>C
9g.132327679C>TCA375327985SETXc.3919G>A (p.Val1307Ile)
n.4103G>A
gnomAD v4
9g.132327680A>CCA375327991SETXc.3918T>G (p.Tyr1306Ter)
n.4102T>G
9g.132327680A>GCA467807777SETXc.3918T>C (p.Tyr1306=)
n.4102T>C
gnomAD v4
9g.132327680A>TCA375327989SETXc.3918T>A (p.Tyr1306Ter)
n.4102T>A
9g.132327681T>ACA375327997SETXc.3917A>T (p.Tyr1306Phe)
n.4101A>T
9g.132327681T>CCA375327993SETXc.3917A>G (p.Tyr1306Cys)
n.4101A>G
gnomAD v4
9g.132327681T>GCA375327995SETXc.3917A>C (p.Tyr1306Ser)
n.4101A>C
9g.132327682A>CCA375327999SETXc.3916T>G (p.Tyr1306Asp)
n.4100T>G
9g.132327682A>GCA375328001SETXc.3916T>C (p.Tyr1306His)
n.4100T>C
gnomAD v4
9g.132327682A>TCA375328003SETXc.3916T>A (p.Tyr1306Asn)
n.4100T>A
9g.132327683A>CCA375328005SETXc.3915T>G (p.Asp1305Glu)
n.4099T>G
9g.132327683A>GCA467807778SETXc.3915T>C (p.Asp1305=)
n.4099T>C
9g.132327683A>TCA375328007SETXc.3915T>A (p.Asp1305Glu)
n.4099T>A
9g.132327684T>ACA375328009SETXc.3914A>T (p.Asp1305Val)
n.4098A>T
gnomAD v4
9g.132327684T>CCA375328011SETXc.3914A>G (p.Asp1305Gly)
n.4098A>G
9g.132327684T>GCA375328012SETXc.3914A>C (p.Asp1305Ala)
n.4098A>C
9g.132327685C>ACA375328015SETXc.3913G>T (p.Asp1305Tyr)
n.4097G>T
9g.132327685C>GCA375328017SETXc.3913G>C (p.Asp1305His)
n.4097G>C
9g.132327685C>TCA375328019SETXc.3913G>A (p.Asp1305Asn)
n.4097G>A
9g.132327686C>ACA375328021SETXc.3912G>T (p.Leu1304Phe)
n.4096G>T
9g.132327686C>GCA375328023SETXc.3912G>C (p.Leu1304Phe)
n.4096G>C
9g.132327686C>TCA467807779SETXc.3912G>A (p.Leu1304=)
n.4096G>A
9g.132327687A>CCA375328025SETXc.3911T>G (p.Leu1304Trp)
n.4095T>G
9g.132327687A>GCA375328027SETXc.3911T>C (p.Leu1304Ser)
n.4095T>C
9g.132327687A>TCA375328029SETXc.3911T>A (p.Leu1304Ter)
n.4095T>A
9g.132327688A>CCA375328031SETXc.3910T>G (p.Leu1304Val)
n.4094T>G
9g.132327688A>GCA467807780SETXc.3910T>C (p.Leu1304=)
n.4094T>C
9g.132327688A>TCA375328033SETXc.3910T>A (p.Leu1304Met)
n.4094T>A
9g.132327689A>CCA467807781SETXc.3909T>G (p.Ser1303=)
n.4093T>G
9g.132327689A>GCA467807782SETXc.3909T>C (p.Ser1303=)
n.4093T>C
9g.132327689A>TCA467807783SETXc.3909T>A (p.Ser1303=)
n.4093T>A
9g.132327690G>ACA375328035SETXc.3908C>T (p.Ser1303Phe)
n.4092C>T
dbSNP
9g.132327690G>CCA5297307SETXc.3908C>G (p.Ser1303Cys)
n.4092C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327690G=CA1882147462SETXc.3908C= (p.Ser1303=)
n.4092C=
9g.132327690G>TCA375328038SETXc.3908C>A (p.Ser1303Tyr)
n.4092C>A
9g.132327691A>CCA375328040SETXc.3907T>G (p.Ser1303Ala)
n.4091T>G
9g.132327691A>GCA375328041SETXc.3907T>C (p.Ser1303Pro)
n.4091T>C
9g.132327691A>TCA375328043SETXc.3907T>A (p.Ser1303Thr)
n.4091T>A
gnomAD v4
9g.132327692C>ACA467807784SETXc.3906G>T (p.Arg1302=)
n.4090G>T
9g.132327692C>GCA467807785SETXc.3906G>C (p.Arg1302=)
n.4090G>C
9g.132327692C>TCA467807786SETXc.3906G>A (p.Arg1302=)
n.4090G>A
9g.132327693C>ACA375328048SETXc.3905G>T (p.Arg1302Leu)
n.4089G>T
ClinVar gnomAD v4
9g.132327693C=CA1882147463SETXc.3905G= (p.Arg1302=)
n.4089G=
9g.132327693C>GCA375328049SETXc.3905G>C (p.Arg1302Pro)
n.4089G>C
dbSNP gnomAD v2 gnomAD v4
9g.132327693C>TCA375328045SETXc.3905G>A (p.Arg1302Gln)
n.4089G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327693_132327699delCA2786136819SETXc.3899_3905del (p.Ser1300CysfsTer6)
n.4083_4089del
9g.132327694G>ACA5297308SETXc.3904C>T (p.Arg1302Trp)
n.4088C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327694G>CCA375328053SETXc.3904C>G (p.Arg1302Gly)
n.4088C>G
9g.132327694G=CA1882147464SETXc.3904C= (p.Arg1302=)
n.4088C=
9g.132327694G>TCA467807787SETXc.3904C>A (p.Arg1302=)
n.4088C>A
gnomAD v4
9g.132327695C>ACA375328055SETXc.3903G>T (p.Gln1301His)
n.4087G>T
9g.132327695C=CA1882147465SETXc.3903G= (p.Gln1301=)
n.4087G=
9g.132327695C>GCA375328057SETXc.3903G>C (p.Gln1301His)
n.4087G>C
9g.132327695C>TCA467807788SETXc.3903G>A (p.Gln1301=)
n.4087G>A
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched