Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40394913G>ACA9443857PRXc.3439C>T (p.Pro1147Ser)
c.3022C>T (p.Pro1008Ser)
c.3724C>T (p.Pro1242Ser)
c.3314C>T
c.3300C>T
c.3401C>T
c.3326C>T
c.*3644C>T (n.*3644C>T)
c.3337C>T (p.Pro1113Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40394913G>CCA405893679PRXc.3439C>G (p.Pro1147Ala)
c.3022C>G (p.Pro1008Ala)
c.3724C>G (p.Pro1242Ala)
c.3314C>G
c.3300C>G
c.3401C>G
c.3326C>G
c.*3644C>G (n.*3644C>G)
c.3337C>G (p.Pro1113Ala)
19g.40394913G=CA2335960905PRXc.3439C= (p.Pro1147=)
c.3022C= (p.Pro1008=)
c.3724C= (p.Pro1242=)
c.3314C=
c.3300C=
c.3401C=
c.3326C=
c.*3644C= (n.*3644C=)
c.3337C= (p.Pro1113=)
19g.40394913G>TCA405893680PRXc.3439C>A (p.Pro1147Thr)
c.3022C>A (p.Pro1008Thr)
c.3724C>A (p.Pro1242Thr)
c.3314C>A
c.3300C>A
c.3401C>A
c.3326C>A
c.*3644C>A (n.*3644C>A)
c.3337C>A (p.Pro1113Thr)
gnomAD v4
19g.40394914A>CCA507678403PRXc.3438T>G (p.Pro1146=)
c.3021T>G (p.Pro1007=)
c.3723T>G (p.Pro1241=)
c.3313T>G
c.3299T>G
c.3400T>G
c.3325T>G
c.*3643T>G (n.*3643T>G)
c.3336T>G (p.Pro1112=)
19g.40394914A>GCA507678404PRXc.3438T>C (p.Pro1146=)
c.3021T>C (p.Pro1007=)
c.3723T>C (p.Pro1241=)
c.3313T>C
c.3299T>C
c.3400T>C
c.3325T>C
c.*3643T>C (n.*3643T>C)
c.3336T>C (p.Pro1112=)
19g.40394914A>TCA507678405PRXc.3438T>A (p.Pro1146=)
c.3021T>A (p.Pro1007=)
c.3723T>A (p.Pro1241=)
c.3313T>A
c.3299T>A
c.3400T>A
c.3325T>A
c.*3643T>A (n.*3643T>A)
c.3336T>A (p.Pro1112=)
19g.40394915G>ACA405893683PRXc.3437C>T (p.Pro1146Leu)
c.3020C>T (p.Pro1007Leu)
c.3722C>T (p.Pro1241Leu)
c.3312C>T
c.3298C>T
c.3399C>T
c.3324C>T
c.*3642C>T (n.*3642C>T)
c.3335C>T (p.Pro1112Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40394915G>CCA405893685PRXc.3437C>G (p.Pro1146Arg)
c.3020C>G (p.Pro1007Arg)
c.3722C>G (p.Pro1241Arg)
c.3312C>G
c.3298C>G
c.3399C>G
c.3324C>G
c.*3642C>G (n.*3642C>G)
c.3335C>G (p.Pro1112Arg)
19g.40394915G=CA2335960906PRXc.3437C= (p.Pro1146=)
c.3020C= (p.Pro1007=)
c.3722C= (p.Pro1241=)
c.3312C=
c.3298C=
c.3399C=
c.3324C=
c.*3642C= (n.*3642C=)
c.3335C= (p.Pro1112=)
19g.40394915G>TCA405893686PRXc.3437C>A (p.Pro1146His)
c.3020C>A (p.Pro1007His)
c.3722C>A (p.Pro1241His)
c.3312C>A
c.3298C>A
c.3399C>A
c.3324C>A
c.*3642C>A (n.*3642C>A)
c.3335C>A (p.Pro1112His)
COSMIC
19g.40394916G>ACA405893688PRXc.3436C>T (p.Pro1146Ser)
c.3019C>T (p.Pro1007Ser)
c.3721C>T (p.Pro1241Ser)
c.3311C>T
c.3297C>T
c.3398C>T
c.3323C>T
c.*3641C>T (n.*3641C>T)
c.3334C>T (p.Pro1112Ser)
gnomAD v4
19g.40394916G>CCA405893690PRXc.3436C>G (p.Pro1146Ala)
c.3019C>G (p.Pro1007Ala)
c.3721C>G (p.Pro1241Ala)
c.3311C>G
c.3297C>G
c.3398C>G
c.3323C>G
c.*3641C>G (n.*3641C>G)
c.3334C>G (p.Pro1112Ala)
dbSNP gnomAD v2 gnomAD v4
19g.40394916G=CA2335960907PRXc.3436C= (p.Pro1146=)
c.3019C= (p.Pro1007=)
c.3721C= (p.Pro1241=)
c.3311C=
c.3297C=
c.3398C=
c.3323C=
c.*3641C= (n.*3641C=)
c.3334C= (p.Pro1112=)
19g.40394916G>TCA405893691PRXc.3436C>A (p.Pro1146Thr)
c.3019C>A (p.Pro1007Thr)
c.3721C>A (p.Pro1241Thr)
c.3311C>A
c.3297C>A
c.3398C>A
c.3323C>A
c.*3641C>A (n.*3641C>A)
c.3334C>A (p.Pro1112Thr)
gnomAD v4
19g.40394917C>ACA405893702PRXc.3435G>T (p.Met1145Ile)
c.3018G>T (p.Met1006Ile)
c.3720G>T (p.Met1240Ile)
c.3310G>T
c.3296G>T
c.3397G>T
c.3322G>T
c.*3640G>T (n.*3640G>T)
c.3333G>T (p.Met1111Ile)
gnomAD v4
19g.40394917C=CA2335960908PRXc.3435G= (p.Met1145=)
c.3018G= (p.Met1006=)
c.3720G= (p.Met1240=)
c.3310G=
c.3296G=
c.3397G=
c.3322G=
c.*3640G= (n.*3640G=)
c.3333G= (p.Met1111=)
19g.40394917C>GCA405893700PRXc.3435G>C (p.Met1145Ile)
c.3018G>C (p.Met1006Ile)
c.3720G>C (p.Met1240Ile)
c.3310G>C
c.3296G>C
c.3397G>C
c.3322G>C
c.*3640G>C (n.*3640G>C)
c.3333G>C (p.Met1111Ile)
19g.40394917C>TCA405893697PRXc.3435G>A (p.Met1145Ile)
c.3018G>A (p.Met1006Ile)
c.3720G>A (p.Met1240Ile)
c.3310G>A
c.3296G>A
c.3397G>A
c.3322G>A
c.*3640G>A (n.*3640G>A)
c.3333G>A (p.Met1111Ile)
ClinVar dbSNP gnomAD v4
19g.40394918A>CCA405893707PRXc.3434T>G (p.Met1145Arg)
c.3017T>G (p.Met1006Arg)
c.3719T>G (p.Met1240Arg)
c.3309T>G
c.3295T>G
c.3396T>G
c.3321T>G
c.*3639T>G (n.*3639T>G)
c.3332T>G (p.Met1111Arg)
19g.40394918A>GCA405893712PRXc.3434T>C (p.Met1145Thr)
c.3017T>C (p.Met1006Thr)
c.3719T>C (p.Met1240Thr)
c.3309T>C
c.3295T>C
c.3396T>C
c.3321T>C
c.*3639T>C (n.*3639T>C)
c.3332T>C (p.Met1111Thr)
19g.40394918A>TCA405893710PRXc.3434T>A (p.Met1145Lys)
c.3017T>A (p.Met1006Lys)
c.3719T>A (p.Met1240Lys)
c.3309T>A
c.3295T>A
c.3396T>A
c.3321T>A
c.*3639T>A (n.*3639T>A)
c.3332T>A (p.Met1111Lys)
19g.40394919T>ACA405893715PRXc.3433A>T (p.Met1145Leu)
c.3016A>T (p.Met1006Leu)
c.3718A>T (p.Met1240Leu)
c.3308A>T
c.3294A>T
c.3395A>T
c.3320A>T
c.*3638A>T (n.*3638A>T)
c.3331A>T (p.Met1111Leu)
19g.40394919T>CCA405893718PRXc.3433A>G (p.Met1145Val)
c.3016A>G (p.Met1006Val)
c.3718A>G (p.Met1240Val)
c.3308A>G
c.3294A>G
c.3395A>G
c.3320A>G
c.*3638A>G (n.*3638A>G)
c.3331A>G (p.Met1111Val)
dbSNP gnomAD v2 gnomAD v4
19g.40394919T>GCA405893721PRXc.3433A>C (p.Met1145Leu)
c.3016A>C (p.Met1006Leu)
c.3718A>C (p.Met1240Leu)
c.3308A>C
c.3294A>C
c.3395A>C
c.3320A>C
c.*3638A>C (n.*3638A>C)
c.3331A>C (p.Met1111Leu)
19g.40394919T=CA2335960909PRXc.3433A= (p.Met1145=)
c.3016A= (p.Met1006=)
c.3718A= (p.Met1240=)
c.3308A=
c.3294A=
c.3395A=
c.3320A=
c.*3638A= (n.*3638A=)
c.3331A= (p.Met1111=)
19g.40394920C>ACA405893724PRXc.3432G>T (p.Arg1144Ser)
c.3015G>T (p.Arg1005Ser)
c.3717G>T (p.Arg1239Ser)
c.3307G>T
c.3293G>T
c.3394G>T
c.3319G>T
c.*3637G>T (n.*3637G>T)
c.3330G>T (p.Arg1110Ser)
19g.40394920C=CA2335960910PRXc.3432G= (p.Arg1144=)
c.3015G= (p.Arg1005=)
c.3717G= (p.Arg1239=)
c.3307G=
c.3293G=
c.3394G=
c.3319G=
c.*3637G= (n.*3637G=)
c.3330G= (p.Arg1110=)
19g.40394920C>GCA405893728PRXc.3432G>C (p.Arg1144Ser)
c.3015G>C (p.Arg1005Ser)
c.3717G>C (p.Arg1239Ser)
c.3307G>C
c.3293G>C
c.3394G>C
c.3319G>C
c.*3637G>C (n.*3637G>C)
c.3330G>C (p.Arg1110Ser)
19g.40394920C>TCA507678417PRXc.3432G>A (p.Arg1144=)
c.3015G>A (p.Arg1005=)
c.3717G>A (p.Arg1239=)
c.3307G>A
c.3293G>A
c.3394G>A
c.3319G>A
c.*3637G>A (n.*3637G>A)
c.3330G>A (p.Arg1110=)
dbSNP gnomAD v3 gnomAD v4
19g.40394921C>ACA405893731PRXc.3431G>T (p.Arg1144Met)
c.3014G>T (p.Arg1005Met)
c.3716G>T (p.Arg1239Met)
c.3306G>T
c.3292G>T
c.3393G>T
c.3318G>T
c.*3636G>T (n.*3636G>T)
c.3329G>T (p.Arg1110Met)
19g.40394921C=CA2335960911PRXc.3431G= (p.Arg1144=)
c.3014G= (p.Arg1005=)
c.3716G= (p.Arg1239=)
c.3306G=
c.3292G=
c.3393G=
c.3318G=
c.*3636G= (n.*3636G=)
c.3329G= (p.Arg1110=)
19g.40394921C>GCA405893733PRXc.3431G>C (p.Arg1144Thr)
c.3014G>C (p.Arg1005Thr)
c.3716G>C (p.Arg1239Thr)
c.3306G>C
c.3292G>C
c.3393G>C
c.3318G>C
c.*3636G>C (n.*3636G>C)
c.3329G>C (p.Arg1110Thr)
19g.40394921C>TCA405893736PRXc.3431G>A (p.Arg1144Lys)
c.3014G>A (p.Arg1005Lys)
c.3716G>A (p.Arg1239Lys)
c.3306G>A
c.3292G>A
c.3393G>A
c.3318G>A
c.*3636G>A (n.*3636G>A)
c.3329G>A (p.Arg1110Lys)
dbSNP gnomAD v4
19g.40394922T>ACA405893739PRXc.3430A>T (p.Arg1144Trp)
c.3013A>T (p.Arg1005Trp)
c.3715A>T (p.Arg1239Trp)
c.3305A>T
c.3291A>T
c.3392A>T
c.3317A>T
c.*3635A>T (n.*3635A>T)
c.3328A>T (p.Arg1110Trp)
19g.40394922T>CCA405893743PRXc.3430A>G (p.Arg1144Gly)
c.3013A>G (p.Arg1005Gly)
c.3715A>G (p.Arg1239Gly)
c.3305A>G
c.3291A>G
c.3392A>G
c.3317A>G
c.*3635A>G (n.*3635A>G)
c.3328A>G (p.Arg1110Gly)
19g.40394922T>GCA507678420PRXc.3430A>C (p.Arg1144=)
c.3013A>C (p.Arg1005=)
c.3715A>C (p.Arg1239=)
c.3305A>C
c.3291A>C
c.3392A>C
c.3317A>C
c.*3635A>C (n.*3635A>C)
c.3328A>C (p.Arg1110=)
19g.40394923C>ACA507678424PRXc.3429G>T (p.Leu1143=)
c.3012G>T (p.Leu1004=)
c.3714G>T (p.Leu1238=)
c.3304G>T
c.3290G>T
c.3391G>T
c.3316G>T
c.*3634G>T (n.*3634G>T)
c.3327G>T (p.Leu1109=)
19g.40394923C>GCA507678430PRXc.3429G>C (p.Leu1143=)
c.3012G>C (p.Leu1004=)
c.3714G>C (p.Leu1238=)
c.3304G>C
c.3290G>C
c.3391G>C
c.3316G>C
c.*3634G>C (n.*3634G>C)
c.3327G>C (p.Leu1109=)
19g.40394923C>TCA507678429PRXc.3429G>A (p.Leu1143=)
c.3012G>A (p.Leu1004=)
c.3714G>A (p.Leu1238=)
c.3304G>A
c.3290G>A
c.3391G>A
c.3316G>A
c.*3634G>A (n.*3634G>A)
c.3327G>A (p.Leu1109=)
gnomAD v4
19g.40394924A>CCA405893746PRXc.3428T>G (p.Leu1143Arg)
c.3011T>G (p.Leu1004Arg)
c.3713T>G (p.Leu1238Arg)
c.3303T>G
c.3289T>G
c.3390T>G
c.3315T>G
c.*3633T>G (n.*3633T>G)
c.3326T>G (p.Leu1109Arg)
19g.40394924A>GCA405893749PRXc.3428T>C (p.Leu1143Pro)
c.3011T>C (p.Leu1004Pro)
c.3713T>C (p.Leu1238Pro)
c.3303T>C
c.3289T>C
c.3390T>C
c.3315T>C
c.*3633T>C (n.*3633T>C)
c.3326T>C (p.Leu1109Pro)
19g.40394924A>TCA405893752PRXc.3428T>A (p.Leu1143Gln)
c.3011T>A (p.Leu1004Gln)
c.3713T>A (p.Leu1238Gln)
c.3303T>A
c.3289T>A
c.3390T>A
c.3315T>A
c.*3633T>A (n.*3633T>A)
c.3326T>A (p.Leu1109Gln)
19g.40394925G>ACA507678432PRXc.3427C>T (p.Leu1143=)
c.3010C>T (p.Leu1004=)
c.3712C>T (p.Leu1238=)
c.3302C>T
c.3288C>T
c.3389C>T
c.3314C>T
c.*3632C>T (n.*3632C>T)
c.3325C>T (p.Leu1109=)
19g.40394925G>CCA405893755PRXc.3427C>G (p.Leu1143Val)
c.3010C>G (p.Leu1004Val)
c.3712C>G (p.Leu1238Val)
c.3302C>G
c.3288C>G
c.3389C>G
c.3314C>G
c.*3632C>G (n.*3632C>G)
c.3325C>G (p.Leu1109Val)
19g.40394925G>TCA405893757PRXc.3427C>A (p.Leu1143Met)
c.3010C>A (p.Leu1004Met)
c.3712C>A (p.Leu1238Met)
c.3302C>A
c.3288C>A
c.3389C>A
c.3314C>A
c.*3632C>A (n.*3632C>A)
c.3325C>A (p.Leu1109Met)
gnomAD v4
19g.40394926C>ACA507678436PRXc.3426G>T (p.Gly1142=)
c.3009G>T (p.Gly1003=)
c.3711G>T (p.Gly1237=)
c.3301G>T
c.3287G>T
c.3388G>T
c.3313G>T
c.*3631G>T (n.*3631G>T)
c.3324G>T (p.Gly1108=)
19g.40394926C=CA2335960912PRXc.3426G= (p.Gly1142=)
c.3009G= (p.Gly1003=)
c.3711G= (p.Gly1237=)
c.3301G=
c.3287G=
c.3388G=
c.3313G=
c.*3631G= (n.*3631G=)
c.3324G= (p.Gly1108=)
19g.40394926C>GCA507678439PRXc.3426G>C (p.Gly1142=)
c.3009G>C (p.Gly1003=)
c.3711G>C (p.Gly1237=)
c.3301G>C
c.3287G>C
c.3388G>C
c.3313G>C
c.*3631G>C (n.*3631G>C)
c.3324G>C (p.Gly1108=)
19g.40394926C>TCA507678440PRXc.3426G>A (p.Gly1142=)
c.3009G>A (p.Gly1003=)
c.3711G>A (p.Gly1237=)
c.3301G>A
c.3287G>A
c.3388G>A
c.3313G>A
c.*3631G>A (n.*3631G>A)
c.3324G>A (p.Gly1108=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched