Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.71398627C>ACA516730535TAF1c.2962C>A (p.Arg988=)
c.591C>A
c.3676C>A (p.Arg1226=)
c.270C>A
c.3613C>A (p.Arg1205=)
c.3736C>A (p.Arg1246=)
c.3673C>A (p.Arg1225=)
c.405C>A
n.3812C>A
c.3733C>A (p.Arg1245=)
c.3355C>A (p.Arg1119=)
n.3746C>A
n.3694C>A
Xg.71398627C=CA2436450092TAF1c.2962C= (p.Arg988=)
c.591C=
c.3676C= (p.Arg1226=)
c.270C=
c.3613C= (p.Arg1205=)
c.3736C= (p.Arg1246=)
c.3673C= (p.Arg1225=)
c.405C=
n.3812C=
c.3733C= (p.Arg1245=)
c.3355C= (p.Arg1119=)
n.3746C=
n.3694C=
Xg.71398627C>GCA413531728TAF1c.2962C>G (p.Arg988Gly)
c.591C>G
c.3676C>G (p.Arg1226Gly)
c.270C>G
c.3613C>G (p.Arg1205Gly)
c.3736C>G (p.Arg1246Gly)
c.3673C>G (p.Arg1225Gly)
c.405C>G
n.3812C>G
c.3733C>G (p.Arg1245Gly)
c.3355C>G (p.Arg1119Gly)
n.3746C>G
n.3694C>G
Xg.71398627C>TCA279920TAF1c.2962C>T (p.Arg988Trp)
c.591C>T
c.3676C>T (p.Arg1226Trp)
c.270C>T
c.3613C>T (p.Arg1205Trp)
c.3736C>T (p.Arg1246Trp)
c.3673C>T (p.Arg1225Trp)
c.405C>T
n.3812C>T
c.3733C>T (p.Arg1245Trp)
c.3355C>T (p.Arg1119Trp)
n.3746C>T
n.3694C>T
 ClinVar dbSNP gnomAD v4
Xg.71398628G>ACA413531736TAF1c.2963G>A (p.Arg988Gln)
c.592G>A
c.3677G>A (p.Arg1226Gln)
c.271G>A
c.3614G>A (p.Arg1205Gln)
c.3737G>A (p.Arg1246Gln)
c.3674G>A (p.Arg1225Gln)
c.406G>A
n.3813G>A
c.3734G>A (p.Arg1245Gln)
c.3356G>A (p.Arg1119Gln)
n.3747G>A
n.3695G>A
 dbSNP COSMIC COSMIC
Xg.71398628G>CCA413531738TAF1c.2963G>C (p.Arg988Pro)
c.592G>C
c.3677G>C (p.Arg1226Pro)
c.271G>C
c.3614G>C (p.Arg1205Pro)
c.3737G>C (p.Arg1246Pro)
c.3674G>C (p.Arg1225Pro)
c.406G>C
n.3813G>C
c.3734G>C (p.Arg1245Pro)
c.3356G>C (p.Arg1119Pro)
n.3747G>C
n.3695G>C
Xg.71398628G>TCA413531740TAF1c.2963G>T (p.Arg988Leu)
c.592G>T
c.3677G>T (p.Arg1226Leu)
c.271G>T
c.3614G>T (p.Arg1205Leu)
c.3737G>T (p.Arg1246Leu)
c.3674G>T (p.Arg1225Leu)
c.406G>T
n.3813G>T
c.3734G>T (p.Arg1245Leu)
c.3356G>T (p.Arg1119Leu)
n.3747G>T
n.3695G>T
Xg.71398629G>ACA516730536TAF1c.2964G>A (p.Arg988=)
c.593G>A
c.3678G>A (p.Arg1226=)
c.272G>A
c.3615G>A (p.Arg1205=)
c.3738G>A (p.Arg1246=)
c.3675G>A (p.Arg1225=)
c.407G>A
n.3814G>A
c.3735G>A (p.Arg1245=)
c.3357G>A (p.Arg1119=)
n.3748G>A
n.3696G>A
Xg.71398629G>CCA516730538TAF1c.2964G>C (p.Arg988=)
c.593G>C
c.3678G>C (p.Arg1226=)
c.272G>C
c.3615G>C (p.Arg1205=)
c.3738G>C (p.Arg1246=)
c.3675G>C (p.Arg1225=)
c.407G>C
n.3814G>C
c.3735G>C (p.Arg1245=)
c.3357G>C (p.Arg1119=)
n.3748G>C
n.3696G>C
Xg.71398629G>TCA516730539TAF1c.2964G>T (p.Arg988=)
c.593G>T
c.3678G>T (p.Arg1226=)
c.272G>T
c.3615G>T (p.Arg1205=)
c.3738G>T (p.Arg1246=)
c.3675G>T (p.Arg1225=)
c.407G>T
n.3814G>T
c.3735G>T (p.Arg1245=)
c.3357G>T (p.Arg1119=)
n.3748G>T
n.3696G>T
Xg.71398630A>CCA516730540TAF1c.2965A>C (p.Arg989=)
c.594A>C
c.3679A>C (p.Arg1227=)
c.273A>C
c.3616A>C (p.Arg1206=)
c.3739A>C (p.Arg1247=)
c.3676A>C (p.Arg1226=)
c.408A>C
n.3815A>C
c.3736A>C (p.Arg1246=)
c.3358A>C (p.Arg1120=)
n.3749A>C
n.3697A>C
Xg.71398630A>GCA413531744TAF1c.2965A>G (p.Arg989Gly)
c.594A>G
c.3679A>G (p.Arg1227Gly)
c.273A>G
c.3616A>G (p.Arg1206Gly)
c.3739A>G (p.Arg1247Gly)
c.3676A>G (p.Arg1226Gly)
c.408A>G
n.3815A>G
c.3736A>G (p.Arg1246Gly)
c.3358A>G (p.Arg1120Gly)
n.3749A>G
n.3697A>G
Xg.71398630A>TCA413531746TAF1c.2965A>T (p.Arg989Trp)
c.594A>T
c.3679A>T (p.Arg1227Trp)
c.273A>T
c.3616A>T (p.Arg1206Trp)
c.3739A>T (p.Arg1247Trp)
c.3676A>T (p.Arg1226Trp)
c.408A>T
n.3815A>T
c.3736A>T (p.Arg1246Trp)
c.3358A>T (p.Arg1120Trp)
n.3749A>T
n.3697A>T
Xg.71398631G>ACA413531749TAF1c.2966G>A (p.Arg989Lys)
c.595G>A
c.3680G>A (p.Arg1227Lys)
c.274G>A
c.3617G>A (p.Arg1206Lys)
c.3740G>A (p.Arg1247Lys)
c.3677G>A (p.Arg1226Lys)
c.409G>A
n.3816G>A
c.3737G>A (p.Arg1246Lys)
c.3359G>A (p.Arg1120Lys)
n.3750G>A
n.3698G>A
Xg.71398631G>CCA413531752TAF1c.2966G>C (p.Arg989Thr)
c.595G>C
c.3680G>C (p.Arg1227Thr)
c.274G>C
c.3617G>C (p.Arg1206Thr)
c.3740G>C (p.Arg1247Thr)
c.3677G>C (p.Arg1226Thr)
c.409G>C
n.3816G>C
c.3737G>C (p.Arg1246Thr)
c.3359G>C (p.Arg1120Thr)
n.3750G>C
n.3698G>C
Xg.71398631G>TCA413531755TAF1c.2966G>T (p.Arg989Met)
c.595G>T
c.3680G>T (p.Arg1227Met)
c.274G>T
c.3617G>T (p.Arg1206Met)
c.3740G>T (p.Arg1247Met)
c.3677G>T (p.Arg1226Met)
c.409G>T
n.3816G>T
c.3737G>T (p.Arg1246Met)
c.3359G>T (p.Arg1120Met)
n.3750G>T
n.3698G>T
Xg.71398632G>ACA516730543TAF1c.2967G>A (p.Arg989=)
c.596G>A
c.3681G>A (p.Arg1227=)
c.275G>A
c.3618G>A (p.Arg1206=)
c.3741G>A (p.Arg1247=)
c.3678G>A (p.Arg1226=)
c.410G>A
n.3817G>A
c.3738G>A (p.Arg1246=)
c.3360G>A (p.Arg1120=)
n.3751G>A
n.3699G>A
 dbSNP
Xg.71398632G>CCA413531758TAF1c.2967G>C (p.Arg989Ser)
c.596G>C
c.3681G>C (p.Arg1227Ser)
c.275G>C
c.3618G>C (p.Arg1206Ser)
c.3741G>C (p.Arg1247Ser)
c.3678G>C (p.Arg1226Ser)
c.410G>C
n.3817G>C
c.3738G>C (p.Arg1246Ser)
c.3360G>C (p.Arg1120Ser)
n.3751G>C
n.3699G>C
Xg.71398632G=CA2436450093TAF1c.2967G= (p.Arg989=)
c.596G=
c.3681G= (p.Arg1227=)
c.275G=
c.3618G= (p.Arg1206=)
c.3741G= (p.Arg1247=)
c.3678G= (p.Arg1226=)
c.410G=
n.3817G=
c.3738G= (p.Arg1246=)
c.3360G= (p.Arg1120=)
n.3751G=
n.3699G=
Xg.71398632G>TCA413531760TAF1c.2967G>T (p.Arg989Ser)
c.596G>T
c.3681G>T (p.Arg1227Ser)
c.275G>T
c.3618G>T (p.Arg1206Ser)
c.3741G>T (p.Arg1247Ser)
c.3678G>T (p.Arg1226Ser)
c.410G>T
n.3817G>T
c.3738G>T (p.Arg1246Ser)
c.3360G>T (p.Arg1120Ser)
n.3751G>T
n.3699G>T
 COSMIC COSMIC
Xg.71398633A>CCA413531765TAF1c.2968A>C (p.Ile990Leu)
c.597A>C
c.3682A>C (p.Ile1228Leu)
c.276A>C
c.3619A>C (p.Ile1207Leu)
c.3742A>C (p.Ile1248Leu)
c.3679A>C (p.Ile1227Leu)
c.411A>C
n.3818A>C
c.3739A>C (p.Ile1247Leu)
c.3361A>C (p.Ile1121Leu)
n.3752A>C
n.3700A>C
Xg.71398633A>GCA413531768TAF1c.2968A>G (p.Ile990Val)
c.597A>G
c.3682A>G (p.Ile1228Val)
c.276A>G
c.3619A>G (p.Ile1207Val)
c.3742A>G (p.Ile1248Val)
c.3679A>G (p.Ile1227Val)
c.411A>G
n.3818A>G
c.3739A>G (p.Ile1247Val)
c.3361A>G (p.Ile1121Val)
n.3752A>G
n.3700A>G
Xg.71398633A>TCA413531771TAF1c.2968A>T (p.Ile990Phe)
c.597A>T
c.3682A>T (p.Ile1228Phe)
c.276A>T
c.3619A>T (p.Ile1207Phe)
c.3742A>T (p.Ile1248Phe)
c.3679A>T (p.Ile1227Phe)
c.411A>T
n.3818A>T
c.3739A>T (p.Ile1247Phe)
c.3361A>T (p.Ile1121Phe)
n.3752A>T
n.3700A>T
Xg.71398634T>ACA413531775TAF1c.2969T>A (p.Ile990Asn)
c.598T>A
c.3683T>A (p.Ile1228Asn)
c.277T>A
c.3620T>A (p.Ile1207Asn)
c.3743T>A (p.Ile1248Asn)
c.3680T>A (p.Ile1227Asn)
c.412T>A
n.3819T>A
c.3740T>A (p.Ile1247Asn)
c.3362T>A (p.Ile1121Asn)
n.3753T>A
n.3701T>A
Xg.71398634T>CCA413531777TAF1c.2969T>C (p.Ile990Thr)
c.598T>C
c.3683T>C (p.Ile1228Thr)
c.277T>C
c.3620T>C (p.Ile1207Thr)
c.3743T>C (p.Ile1248Thr)
c.3680T>C (p.Ile1227Thr)
c.412T>C
n.3819T>C
c.3740T>C (p.Ile1247Thr)
c.3362T>C (p.Ile1121Thr)
n.3753T>C
n.3701T>C
Xg.71398634T>GCA413531780TAF1c.2969T>G (p.Ile990Ser)
c.598T>G
c.3683T>G (p.Ile1228Ser)
c.277T>G
c.3620T>G (p.Ile1207Ser)
c.3743T>G (p.Ile1248Ser)
c.3680T>G (p.Ile1227Ser)
c.412T>G
n.3819T>G
c.3740T>G (p.Ile1247Ser)
c.3362T>G (p.Ile1121Ser)
n.3753T>G
n.3701T>G
Xg.71398635T>ACA516730547TAF1c.2970T>A (p.Ile990=)
c.599T>A
c.3684T>A (p.Ile1228=)
c.278T>A
c.3621T>A (p.Ile1207=)
c.3744T>A (p.Ile1248=)
c.3681T>A (p.Ile1227=)
c.413T>A
n.3820T>A
c.3741T>A (p.Ile1247=)
c.3363T>A (p.Ile1121=)
n.3754T>A
n.3702T>A
Xg.71398635T>CCA516730545TAF1c.2970T>C (p.Ile990=)
c.599T>C
c.3684T>C (p.Ile1228=)
c.278T>C
c.3621T>C (p.Ile1207=)
c.3744T>C (p.Ile1248=)
c.3681T>C (p.Ile1227=)
c.413T>C
n.3820T>C
c.3741T>C (p.Ile1247=)
c.3363T>C (p.Ile1121=)
n.3754T>C
n.3702T>C
Xg.71398635T>GCA413531783TAF1c.2970T>G (p.Ile990Met)
c.599T>G
c.3684T>G (p.Ile1228Met)
c.278T>G
c.3621T>G (p.Ile1207Met)
c.3744T>G (p.Ile1248Met)
c.3681T>G (p.Ile1227Met)
c.413T>G
n.3820T>G
c.3741T>G (p.Ile1247Met)
c.3363T>G (p.Ile1121Met)
n.3754T>G
n.3702T>G
Xg.71398636C>ACA413531786TAF1c.2971C>A (p.Gln991Lys)
c.600C>A
c.3685C>A (p.Gln1229Lys)
c.279C>A
c.3622C>A (p.Gln1208Lys)
c.3745C>A (p.Gln1249Lys)
c.3682C>A (p.Gln1228Lys)
c.414C>A
n.3821C>A
c.3742C>A (p.Gln1248Lys)
c.3364C>A (p.Gln1122Lys)
n.3755C>A
n.3703C>A
Xg.71398636C>GCA413531793TAF1c.2971C>G (p.Gln991Glu)
c.600C>G
c.3685C>G (p.Gln1229Glu)
c.279C>G
c.3622C>G (p.Gln1208Glu)
c.3745C>G (p.Gln1249Glu)
c.3682C>G (p.Gln1228Glu)
c.414C>G
n.3821C>G
c.3742C>G (p.Gln1248Glu)
c.3364C>G (p.Gln1122Glu)
n.3755C>G
n.3703C>G
Xg.71398636C>TCA413531789TAF1c.2971C>T (p.Gln991Ter)
c.600C>T
c.3685C>T (p.Gln1229Ter)
c.279C>T
c.3622C>T (p.Gln1208Ter)
c.3745C>T (p.Gln1249Ter)
c.3682C>T (p.Gln1228Ter)
c.414C>T
n.3821C>T
c.3742C>T (p.Gln1248Ter)
c.3364C>T (p.Gln1122Ter)
n.3755C>T
n.3703C>T
Xg.71398637A>CCA413531796TAF1c.2972A>C (p.Gln991Pro)
c.601A>C
c.3686A>C (p.Gln1229Pro)
c.280A>C
c.3623A>C (p.Gln1208Pro)
c.3746A>C (p.Gln1249Pro)
c.3683A>C (p.Gln1228Pro)
c.415A>C
n.3822A>C
c.3743A>C (p.Gln1248Pro)
c.3365A>C (p.Gln1122Pro)
n.3756A>C
n.3704A>C
Xg.71398637A>GCA413531802TAF1c.2972A>G (p.Gln991Arg)
c.601A>G
c.3686A>G (p.Gln1229Arg)
c.280A>G
c.3623A>G (p.Gln1208Arg)
c.3746A>G (p.Gln1249Arg)
c.3683A>G (p.Gln1228Arg)
c.415A>G
n.3822A>G
c.3743A>G (p.Gln1248Arg)
c.3365A>G (p.Gln1122Arg)
n.3756A>G
n.3704A>G
Xg.71398637A>TCA413531799TAF1c.2972A>T (p.Gln991Leu)
c.601A>T
c.3686A>T (p.Gln1229Leu)
c.280A>T
c.3623A>T (p.Gln1208Leu)
c.3746A>T (p.Gln1249Leu)
c.3683A>T (p.Gln1228Leu)
c.415A>T
n.3822A>T
c.3743A>T (p.Gln1248Leu)
c.3365A>T (p.Gln1122Leu)
n.3756A>T
n.3704A>T
Xg.71398638A=CA2436450094TAF1c.2973A= (p.Gln991=)
c.602A=
c.3687A= (p.Gln1229=)
c.281A=
c.3624A= (p.Gln1208=)
c.3747A= (p.Gln1249=)
c.3684A= (p.Gln1228=)
c.416A=
n.3823A=
c.3744A= (p.Gln1248=)
c.3366A= (p.Gln1122=)
n.3757A=
n.3705A=
Xg.71398638A>CCA413531805TAF1c.2973A>C (p.Gln991His)
c.602A>C
c.3687A>C (p.Gln1229His)
c.281A>C
c.3624A>C (p.Gln1208His)
c.3747A>C (p.Gln1249His)
c.3684A>C (p.Gln1228His)
c.416A>C
n.3823A>C
c.3744A>C (p.Gln1248His)
c.3366A>C (p.Gln1122His)
n.3757A>C
n.3705A>C
Xg.71398638A>GCA10447065TAF1c.2973A>G (p.Gln991=)
c.602A>G
c.3687A>G (p.Gln1229=)
c.281A>G
c.3624A>G (p.Gln1208=)
c.3747A>G (p.Gln1249=)
c.3684A>G (p.Gln1228=)
c.416A>G
n.3823A>G
c.3744A>G (p.Gln1248=)
c.3366A>G (p.Gln1122=)
n.3757A>G
n.3705A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.71398638A>TCA413531810TAF1c.2973A>T (p.Gln991His)
c.602A>T
c.3687A>T (p.Gln1229His)
c.281A>T
c.3624A>T (p.Gln1208His)
c.3747A>T (p.Gln1249His)
c.3684A>T (p.Gln1228His)
c.416A>T
n.3823A>T
c.3744A>T (p.Gln1248His)
c.3366A>T (p.Gln1122His)
n.3757A>T
n.3705A>T
Xg.71398639G>ACA413531813TAF1c.2974G>A (p.Glu992Lys)
c.603G>A
c.3688G>A (p.Glu1230Lys)
c.282G>A
c.3625G>A (p.Glu1209Lys)
c.3748G>A (p.Glu1250Lys)
c.3685G>A (p.Glu1229Lys)
c.417G>A
n.3824G>A
c.3745G>A (p.Glu1249Lys)
c.3367G>A (p.Glu1123Lys)
n.3758G>A
n.3706G>A
Xg.71398639G>CCA413531815TAF1c.2974G>C (p.Glu992Gln)
c.603G>C
c.3688G>C (p.Glu1230Gln)
c.282G>C
c.3625G>C (p.Glu1209Gln)
c.3748G>C (p.Glu1250Gln)
c.3685G>C (p.Glu1229Gln)
c.417G>C
n.3824G>C
c.3745G>C (p.Glu1249Gln)
c.3367G>C (p.Glu1123Gln)
n.3758G>C
n.3706G>C
Xg.71398639G>TCA413531818TAF1c.2974G>T (p.Glu992Ter)
c.603G>T
c.3688G>T (p.Glu1230Ter)
c.282G>T
c.3625G>T (p.Glu1209Ter)
c.3748G>T (p.Glu1250Ter)
c.3685G>T (p.Glu1229Ter)
c.417G>T
n.3824G>T
c.3745G>T (p.Glu1249Ter)
c.3367G>T (p.Glu1123Ter)
n.3758G>T
n.3706G>T
Xg.71398640A>CCA413531821TAF1c.2975A>C (p.Glu992Ala)
c.604A>C
c.3689A>C (p.Glu1230Ala)
c.283A>C
c.3626A>C (p.Glu1209Ala)
c.3749A>C (p.Glu1250Ala)
c.3686A>C (p.Glu1229Ala)
c.418A>C
n.3825A>C
c.3746A>C (p.Glu1249Ala)
c.3368A>C (p.Glu1123Ala)
n.3759A>C
n.3707A>C
Xg.71398640A>GCA413531822TAF1c.2975A>G (p.Glu992Gly)
c.604A>G
c.3689A>G (p.Glu1230Gly)
c.283A>G
c.3626A>G (p.Glu1209Gly)
c.3749A>G (p.Glu1250Gly)
c.3686A>G (p.Glu1229Gly)
c.418A>G
n.3825A>G
c.3746A>G (p.Glu1249Gly)
c.3368A>G (p.Glu1123Gly)
n.3759A>G
n.3707A>G
Xg.71398640A>TCA413531824TAF1c.2975A>T (p.Glu992Val)
c.604A>T
c.3689A>T (p.Glu1230Val)
c.283A>T
c.3626A>T (p.Glu1209Val)
c.3749A>T (p.Glu1250Val)
c.3686A>T (p.Glu1229Val)
c.418A>T
n.3825A>T
c.3746A>T (p.Glu1249Val)
c.3368A>T (p.Glu1123Val)
n.3759A>T
n.3707A>T
Xg.71398641G>ACA516730549TAF1c.2976G>A (p.Glu992=)
c.605G>A
c.3690G>A (p.Glu1230=)
c.284G>A
c.3627G>A (p.Glu1209=)
c.3750G>A (p.Glu1250=)
c.3687G>A (p.Glu1229=)
c.419G>A
n.3826G>A
c.3747G>A (p.Glu1249=)
c.3369G>A (p.Glu1123=)
n.3760G>A
n.3708G>A
 dbSNP gnomAD v4
Xg.71398641G>CCA413531827TAF1c.2976G>C (p.Glu992Asp)
c.605G>C
c.3690G>C (p.Glu1230Asp)
c.284G>C
c.3627G>C (p.Glu1209Asp)
c.3750G>C (p.Glu1250Asp)
c.3687G>C (p.Glu1229Asp)
c.419G>C
n.3826G>C
c.3747G>C (p.Glu1249Asp)
c.3369G>C (p.Glu1123Asp)
n.3760G>C
n.3708G>C
Xg.71398641G>TCA413531830TAF1c.2976G>T (p.Glu992Asp)
c.605G>T
c.3690G>T (p.Glu1230Asp)
c.284G>T
c.3627G>T (p.Glu1209Asp)
c.3750G>T (p.Glu1250Asp)
c.3687G>T (p.Glu1229Asp)
c.419G>T
n.3826G>T
c.3747G>T (p.Glu1249Asp)
c.3369G>T (p.Glu1123Asp)
n.3760G>T
n.3708G>T
Xg.71398642C>ACA413531838TAF1c.2977C>A (p.Gln993Lys)
c.606C>A
c.3691C>A (p.Gln1231Lys)
c.285C>A
c.3628C>A (p.Gln1210Lys)
c.3751C>A (p.Gln1251Lys)
c.3688C>A (p.Gln1230Lys)
c.420C>A
n.3827C>A
c.3748C>A (p.Gln1250Lys)
c.3370C>A (p.Gln1124Lys)
n.3761C>A
n.3709C>A
Xg.71398642C>GCA413531835TAF1c.2977C>G (p.Gln993Glu)
c.606C>G
c.3691C>G (p.Gln1231Glu)
c.285C>G
c.3628C>G (p.Gln1210Glu)
c.3751C>G (p.Gln1251Glu)
c.3688C>G (p.Gln1230Glu)
c.420C>G
n.3827C>G
c.3748C>G (p.Gln1250Glu)
c.3370C>G (p.Gln1124Glu)
n.3761C>G
n.3709C>G

Number of alleles fetched