UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40394922T>A | CA405893739 | PRX | c.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) | |
| 19 | g.40394922T>C | CA405893743 | PRX | c.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) | |
| 19 | g.40394922T>G | CA507678420 | PRX | c.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=) | |
| 19 | g.40394923C>A | CA507678424 | PRX | c.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=) | |
| 19 | g.40394923C>G | CA507678430 | PRX | c.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=) | |
| 19 | g.40394923C>T | CA507678429 | PRX | c.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 |
| 19 | g.40394924A>C | CA405893746 | PRX | c.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) | |
| 19 | g.40394924A>G | CA405893749 | PRX | c.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) | |
| 19 | g.40394924A>T | CA405893752 | PRX | c.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) | |
| 19 | g.40394925G>A | CA507678432 | PRX | c.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=) | |
| 19 | g.40394925G>C | CA405893755 | PRX | c.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) | |
| 19 | g.40394925G>T | CA405893757 | PRX | c.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 |
| 19 | g.40394926C>A | CA507678436 | PRX | c.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=) | |
| 19 | g.40394926C= | CA2335960912 | PRX | c.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=) | |
| 19 | g.40394926C>G | CA507678439 | PRX | c.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=) | |
| 19 | g.40394926C>T | CA507678440 | PRX | c.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 |
| 19 | g.40394927C>A | CA405893765 | PRX | c.3425G>T (p.Gly1142Val) c.3008G>T (p.Gly1003Val) c.3710G>T (p.Gly1237Val) c.3300G>T c.3286G>T c.3387G>T c.3312G>T c.*3630G>T (n.*3630G>T) c.3323G>T (p.Gly1108Val) | |
| 19 | g.40394927C= | CA2335960913 | PRX | c.3425G= (p.Gly1142=) c.3008G= (p.Gly1003=) c.3710G= (p.Gly1237=) c.3300G= c.3286G= c.3387G= c.3312G= c.*3630G= (n.*3630G=) c.3323G= (p.Gly1108=) | |
| 19 | g.40394927C>G | CA405893761 | PRX | c.3425G>C (p.Gly1142Ala) c.3008G>C (p.Gly1003Ala) c.3710G>C (p.Gly1237Ala) c.3300G>C c.3286G>C c.3387G>C c.3312G>C c.*3630G>C (n.*3630G>C) c.3323G>C (p.Gly1108Ala) | |
| 19 | g.40394927C>T | CA405893763 | PRX | c.3425G>A (p.Gly1142Glu) c.3008G>A (p.Gly1003Glu) c.3710G>A (p.Gly1237Glu) c.3300G>A c.3286G>A c.3387G>A c.3312G>A c.*3630G>A (n.*3630G>A) c.3323G>A (p.Gly1108Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394928C>A | CA405893771 | PRX | c.3424G>T (p.Gly1142Trp) c.3007G>T (p.Gly1003Trp) c.3709G>T (p.Gly1237Trp) c.3299G>T c.3285G>T c.3386G>T c.3311G>T c.*3629G>T (n.*3629G>T) c.3322G>T (p.Gly1108Trp) | dbSNP gnomAD v2 |
| 19 | g.40394928C= | CA2335960914 | PRX | c.3424G= (p.Gly1142=) c.3007G= (p.Gly1003=) c.3709G= (p.Gly1237=) c.3299G= c.3285G= c.3386G= c.3311G= c.*3629G= (n.*3629G=) c.3322G= (p.Gly1108=) | |
| 19 | g.40394928C>G | CA405893773 | PRX | c.3424G>C (p.Gly1142Arg) c.3007G>C (p.Gly1003Arg) c.3709G>C (p.Gly1237Arg) c.3299G>C c.3285G>C c.3386G>C c.3311G>C c.*3629G>C (n.*3629G>C) c.3322G>C (p.Gly1108Arg) | |
| 19 | g.40394928C>T | CA9443858 | PRX | c.3424G>A (p.Gly1142Arg) c.3007G>A (p.Gly1003Arg) c.3709G>A (p.Gly1237Arg) c.3299G>A c.3285G>A c.3386G>A c.3311G>A c.*3629G>A (n.*3629G>A) c.3322G>A (p.Gly1108Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394929C>A | CA507678448 | PRX | c.3423G>T (p.Ala1141=) c.3006G>T (p.Ala1002=) c.3708G>T (p.Ala1236=) c.3298G>T c.3284G>T c.3385G>T c.3310G>T c.*3628G>T (n.*3628G>T) c.3321G>T (p.Ala1107=) | |
| 19 | g.40394929C= | CA2335960915 | PRX | c.3423G= (p.Ala1141=) c.3006G= (p.Ala1002=) c.3708G= (p.Ala1236=) c.3298G= c.3284G= c.3385G= c.3310G= c.*3628G= (n.*3628G=) c.3321G= (p.Ala1107=) | |
| 19 | g.40394929C>G | CA507678447 | PRX | c.3423G>C (p.Ala1141=) c.3006G>C (p.Ala1002=) c.3708G>C (p.Ala1236=) c.3298G>C c.3284G>C c.3385G>C c.3310G>C c.*3628G>C (n.*3628G>C) c.3321G>C (p.Ala1107=) | |
| 19 | g.40394929C>T | CA9443859 | PRX | c.3423G>A (p.Ala1141=) c.3006G>A (p.Ala1002=) c.3708G>A (p.Ala1236=) c.3298G>A c.3284G>A c.3385G>A c.3310G>A c.*3628G>A (n.*3628G>A) c.3321G>A (p.Ala1107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394931_40394932del | CA2736043846 | PRX | c.3422_3423del (p.Ala1141GlyfsTer?) c.3005_3006del (p.Ala1002GlyfsTer?) c.3707_3708del (p.Ala1236GlyfsTer?) c.3297_3298del c.3283_3284del c.3384_3385del c.3309_3310del c.*3627_*3628del (n.*3627_*3628del) c.3320_3321del (p.Ala1107GlyfsTer?) | dbSNP |
| 19 | g.40394930G>A | CA9443860 | PRX | c.3422C>T (p.Ala1141Val) c.3005C>T (p.Ala1002Val) c.3707C>T (p.Ala1236Val) c.3297C>T c.3283C>T c.3384C>T c.3309C>T c.*3627C>T (n.*3627C>T) c.3320C>T (p.Ala1107Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40394930G>C | CA405893777 | PRX | c.3422C>G (p.Ala1141Gly) c.3005C>G (p.Ala1002Gly) c.3707C>G (p.Ala1236Gly) c.3297C>G c.3283C>G c.3384C>G c.3309C>G c.*3627C>G (n.*3627C>G) c.3320C>G (p.Ala1107Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394930G= | CA2335960916 | PRX | c.3422C= (p.Ala1141=) c.3005C= (p.Ala1002=) c.3707C= (p.Ala1236=) c.3297C= c.3283C= c.3384C= c.3309C= c.*3627C= (n.*3627C=) c.3320C= (p.Ala1107=) | |
| 19 | g.40394930G>T | CA405893779 | PRX | c.3422C>A (p.Ala1141Glu) c.3005C>A (p.Ala1002Glu) c.3707C>A (p.Ala1236Glu) c.3297C>A c.3283C>A c.3384C>A c.3309C>A c.*3627C>A (n.*3627C>A) c.3320C>A (p.Ala1107Glu) | gnomAD v4 |
| 19 | g.40394931C>A | CA405893782 | PRX | c.3421G>T (p.Ala1141Ser) c.3004G>T (p.Ala1002Ser) c.3706G>T (p.Ala1236Ser) c.3296G>T c.3282G>T c.3383G>T c.3308G>T c.*3626G>T (n.*3626G>T) c.3319G>T (p.Ala1107Ser) | |
| 19 | g.40394931C= | CA2335960917 | PRX | c.3421G= (p.Ala1141=) c.3004G= (p.Ala1002=) c.3706G= (p.Ala1236=) c.3296G= c.3282G= c.3383G= c.3308G= c.*3626G= (n.*3626G=) c.3319G= (p.Ala1107=) | |
| 19 | g.40394931C>G | CA405893784 | PRX | c.3421G>C (p.Ala1141Pro) c.3004G>C (p.Ala1002Pro) c.3706G>C (p.Ala1236Pro) c.3296G>C c.3282G>C c.3383G>C c.3308G>C c.*3626G>C (n.*3626G>C) c.3319G>C (p.Ala1107Pro) | |
| 19 | g.40394931C>T | CA9443861 | PRX | c.3421G>A (p.Ala1141Thr) c.3004G>A (p.Ala1002Thr) c.3706G>A (p.Ala1236Thr) c.3296G>A c.3282G>A c.3383G>A c.3308G>A c.*3626G>A (n.*3626G>A) c.3319G>A (p.Ala1107Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394932G>A | CA9443862 | PRX | c.3420C>T (p.Asp1140=) c.3003C>T (p.Asp1001=) c.3705C>T (p.Asp1235=) c.3295C>T c.3281C>T c.3382C>T c.3307C>T c.*3625C>T (n.*3625C>T) c.3318C>T (p.Asp1106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394932G>C | CA405893790 | PRX | c.3420C>G (p.Asp1140Glu) c.3003C>G (p.Asp1001Glu) c.3705C>G (p.Asp1235Glu) c.3295C>G c.3281C>G c.3382C>G c.3307C>G c.*3625C>G (n.*3625C>G) c.3318C>G (p.Asp1106Glu) | dbSNP |
| 19 | g.40394932G= | CA2335960918 | PRX | c.3420C= (p.Asp1140=) c.3003C= (p.Asp1001=) c.3705C= (p.Asp1235=) c.3295C= c.3281C= c.3382C= c.3307C= c.*3625C= (n.*3625C=) c.3318C= (p.Asp1106=) | |
| 19 | g.40394932G>T | CA308416965 | PRX | c.3420C>A (p.Asp1140Glu) c.3003C>A (p.Asp1001Glu) c.3705C>A (p.Asp1235Glu) c.3295C>A c.3281C>A c.3382C>A c.3307C>A c.*3625C>A (n.*3625C>A) c.3318C>A (p.Asp1106Glu) | dbSNP gnomAD v4 |
| 19 | g.40394933T>A | CA308416967 | PRX | c.3419A>T (p.Asp1140Val) c.3002A>T (p.Asp1001Val) c.3704A>T (p.Asp1235Val) c.3294A>T c.3280A>T c.3381A>T c.3306A>T c.*3624A>T (n.*3624A>T) c.3317A>T (p.Asp1106Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394933T>C | CA405893799 | PRX | c.3419A>G (p.Asp1140Gly) c.3002A>G (p.Asp1001Gly) c.3704A>G (p.Asp1235Gly) c.3294A>G c.3280A>G c.3381A>G c.3306A>G c.*3624A>G (n.*3624A>G) c.3317A>G (p.Asp1106Gly) | |
| 19 | g.40394933T>G | CA405893797 | PRX | c.3419A>C (p.Asp1140Ala) c.3002A>C (p.Asp1001Ala) c.3704A>C (p.Asp1235Ala) c.3294A>C c.3280A>C c.3381A>C c.3306A>C c.*3624A>C (n.*3624A>C) c.3317A>C (p.Asp1106Ala) | |
| 19 | g.40394933T= | CA2335960919 | PRX | c.3419A= (p.Asp1140=) c.3002A= (p.Asp1001=) c.3704A= (p.Asp1235=) c.3294A= c.3280A= c.3381A= c.3306A= c.*3624A= (n.*3624A=) c.3317A= (p.Asp1106=) | |
| 19 | g.40394934C>A | CA405893802 | PRX | c.3418G>T (p.Asp1140Tyr) c.3001G>T (p.Asp1001Tyr) c.3703G>T (p.Asp1235Tyr) c.3293G>T c.3279G>T c.3380G>T c.3305G>T c.*3623G>T (n.*3623G>T) c.3316G>T (p.Asp1106Tyr) | |
| 19 | g.40394934C= | CA2335960920 | PRX | c.3418G= (p.Asp1140=) c.3001G= (p.Asp1001=) c.3703G= (p.Asp1235=) c.3293G= c.3279G= c.3380G= c.3305G= c.*3623G= (n.*3623G=) c.3316G= (p.Asp1106=) | |
| 19 | g.40394934C>G | CA405893803 | PRX | c.3418G>C (p.Asp1140His) c.3001G>C (p.Asp1001His) c.3703G>C (p.Asp1235His) c.3293G>C c.3279G>C c.3380G>C c.3305G>C c.*3623G>C (n.*3623G>C) c.3316G>C (p.Asp1106His) | |
| 19 | g.40394934C>T | CA405893804 | PRX | c.3418G>A (p.Asp1140Asn) c.3001G>A (p.Asp1001Asn) c.3703G>A (p.Asp1235Asn) c.3293G>A c.3279G>A c.3380G>A c.3305G>A c.*3623G>A (n.*3623G>A) c.3316G>A (p.Asp1106Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394935A>C | CA405893807 | PRX | c.3417T>G (p.His1139Gln) c.3000T>G (p.His1000Gln) c.3702T>G (p.His1234Gln) c.3292T>G c.3278T>G c.3379T>G c.3304T>G c.*3622T>G (n.*3622T>G) c.3315T>G (p.His1105Gln) | |
| 19 | g.40394935A>G | CA507678467 | PRX | c.3417T>C (p.His1139=) c.3000T>C (p.His1000=) c.3702T>C (p.His1234=) c.3292T>C c.3278T>C c.3379T>C c.3304T>C c.*3622T>C (n.*3622T>C) c.3315T>C (p.His1105=) | |
| 19 | g.40394935A>T | CA405893809 | PRX | c.3417T>A (p.His1139Gln) c.3000T>A (p.His1000Gln) c.3702T>A (p.His1234Gln) c.3292T>A c.3278T>A c.3379T>A c.3304T>A c.*3622T>A (n.*3622T>A) c.3315T>A (p.His1105Gln) | |
| 19 | g.40394936T>A | CA405893816 | PRX | c.3416A>T (p.His1139Leu) c.2999A>T (p.His1000Leu) c.3701A>T (p.His1234Leu) c.3291A>T c.3277A>T c.3378A>T c.3303A>T c.*3621A>T (n.*3621A>T) c.3314A>T (p.His1105Leu) | |
| 19 | g.40394936T>C | CA405893814 | PRX | c.3416A>G (p.His1139Arg) c.2999A>G (p.His1000Arg) c.3701A>G (p.His1234Arg) c.3291A>G c.3277A>G c.3378A>G c.3303A>G c.*3621A>G (n.*3621A>G) c.3314A>G (p.His1105Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394936T>G | CA405893813 | PRX | c.3416A>C (p.His1139Pro) c.2999A>C (p.His1000Pro) c.3701A>C (p.His1234Pro) c.3291A>C c.3277A>C c.3378A>C c.3303A>C c.*3621A>C (n.*3621A>C) c.3314A>C (p.His1105Pro) | |
| 19 | g.40394936T= | CA2335960921 | PRX | c.3416A= (p.His1139=) c.2999A= (p.His1000=) c.3701A= (p.His1234=) c.3291A= c.3277A= c.3378A= c.3303A= c.*3621A= (n.*3621A=) c.3314A= (p.His1105=) | |
| 19 | g.40394937G>A | CA405893818 | PRX | c.3415C>T (p.His1139Tyr) c.2998C>T (p.His1000Tyr) c.3700C>T (p.His1234Tyr) c.3290C>T c.3276C>T c.3377C>T c.3302C>T c.*3620C>T (n.*3620C>T) c.3313C>T (p.His1105Tyr) | |
| 19 | g.40394937G>C | CA405893820 | PRX | c.3415C>G (p.His1139Asp) c.2998C>G (p.His1000Asp) c.3700C>G (p.His1234Asp) c.3290C>G c.3276C>G c.3377C>G c.3302C>G c.*3620C>G (n.*3620C>G) c.3313C>G (p.His1105Asp) | |
| 19 | g.40394937G>T | CA405893821 | PRX | c.3415C>A (p.His1139Asn) c.2998C>A (p.His1000Asn) c.3700C>A (p.His1234Asn) c.3290C>A c.3276C>A c.3377C>A c.3302C>A c.*3620C>A (n.*3620C>A) c.3313C>A (p.His1105Asn) | gnomAD v4 |
| 19 | g.40394938G>A | CA507678478 | PRX | c.3414C>T (p.Gly1138=) c.2997C>T (p.Gly999=) c.3699C>T (p.Gly1233=) c.3289C>T c.3275C>T c.3376C>T c.3301C>T c.*3619C>T (n.*3619C>T) c.3312C>T (p.Gly1104=) | dbSNP gnomAD v4 |
| 19 | g.40394938G>C | CA507678479 | PRX | c.3414C>G (p.Gly1138=) c.2997C>G (p.Gly999=) c.3699C>G (p.Gly1233=) c.3289C>G c.3275C>G c.3376C>G c.3301C>G c.*3619C>G (n.*3619C>G) c.3312C>G (p.Gly1104=) | |
| 19 | g.40394938G= | CA2335960922 | PRX | c.3414C= (p.Gly1138=) c.2997C= (p.Gly999=) c.3699C= (p.Gly1233=) c.3289C= c.3275C= c.3376C= c.3301C= c.*3619C= (n.*3619C=) c.3312C= (p.Gly1104=) | |
| 19 | g.40394938G>T | CA507678482 | PRX | c.3414C>A (p.Gly1138=) c.2997C>A (p.Gly999=) c.3699C>A (p.Gly1233=) c.3289C>A c.3275C>A c.3376C>A c.3301C>A c.*3619C>A (n.*3619C>A) c.3312C>A (p.Gly1104=) | gnomAD v4 |
| 19 | g.40394939C>A | CA9443863 | PRX | c.3413G>T (p.Gly1138Val) c.2996G>T (p.Gly999Val) c.3698G>T (p.Gly1233Val) c.3288G>T c.3274G>T c.3375G>T c.3300G>T c.*3618G>T (n.*3618G>T) c.3311G>T (p.Gly1104Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394939C= | CA2335960923 | PRX | c.3413G= (p.Gly1138=) c.2996G= (p.Gly999=) c.3698G= (p.Gly1233=) c.3288G= c.3274G= c.3375G= c.3300G= c.*3618G= (n.*3618G=) c.3311G= (p.Gly1104=) | |
| 19 | g.40394939C>G | CA405893826 | PRX | c.3413G>C (p.Gly1138Ala) c.2996G>C (p.Gly999Ala) c.3698G>C (p.Gly1233Ala) c.3288G>C c.3274G>C c.3375G>C c.3300G>C c.*3618G>C (n.*3618G>C) c.3311G>C (p.Gly1104Ala) | |
| 19 | g.40394939C>T | CA405893828 | PRX | c.3413G>A (p.Gly1138Asp) c.2996G>A (p.Gly999Asp) c.3698G>A (p.Gly1233Asp) c.3288G>A c.3274G>A c.3375G>A c.3300G>A c.*3618G>A (n.*3618G>A) c.3311G>A (p.Gly1104Asp) | gnomAD v4 |
| 19 | g.40394940C>A | CA405893832 | PRX | c.3412G>T (p.Gly1138Cys) c.2995G>T (p.Gly999Cys) c.3697G>T (p.Gly1233Cys) c.3287G>T c.3273G>T c.3374G>T c.3299G>T c.*3617G>T (n.*3617G>T) c.3310G>T (p.Gly1104Cys) | |
| 19 | g.40394940C= | CA2335960924 | PRX | c.3412G= (p.Gly1138=) c.2995G= (p.Gly999=) c.3697G= (p.Gly1233=) c.3287G= c.3273G= c.3374G= c.3299G= c.*3617G= (n.*3617G=) c.3310G= (p.Gly1104=) | |
| 19 | g.40394940C>G | CA405893835 | PRX | c.3412G>C (p.Gly1138Arg) c.2995G>C (p.Gly999Arg) c.3697G>C (p.Gly1233Arg) c.3287G>C c.3273G>C c.3374G>C c.3299G>C c.*3617G>C (n.*3617G>C) c.3310G>C (p.Gly1104Arg) | |
| 19 | g.40394940C>T | CA308416979 | PRX | c.3412G>A (p.Gly1138Ser) c.2995G>A (p.Gly999Ser) c.3697G>A (p.Gly1233Ser) c.3287G>A c.3273G>A c.3374G>A c.3299G>A c.*3617G>A (n.*3617G>A) c.3310G>A (p.Gly1104Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394941C>A | CA405893837 | PRX | c.3411G>T (p.Glu1137Asp) c.2994G>T (p.Glu998Asp) c.3696G>T (p.Glu1232Asp) c.3286G>T c.3272G>T c.3373G>T c.3298G>T c.*3616G>T (n.*3616G>T) c.3309G>T (p.Glu1103Asp) | |
| 19 | g.40394941C= | CA2335960925 | PRX | c.3411G= (p.Glu1137=) c.2994G= (p.Glu998=) c.3696G= (p.Glu1232=) c.3286G= c.3272G= c.3373G= c.3298G= c.*3616G= (n.*3616G=) c.3309G= (p.Glu1103=) | |
| 19 | g.40394941C>G | CA405893839 | PRX | c.3411G>C (p.Glu1137Asp) c.2994G>C (p.Glu998Asp) c.3696G>C (p.Glu1232Asp) c.3286G>C c.3272G>C c.3373G>C c.3298G>C c.*3616G>C (n.*3616G>C) c.3309G>C (p.Glu1103Asp) | |
| 19 | g.40394941C>T | CA507678492 | PRX | c.3411G>A (p.Glu1137=) c.2994G>A (p.Glu998=) c.3696G>A (p.Glu1232=) c.3286G>A c.3272G>A c.3373G>A c.3298G>A c.*3616G>A (n.*3616G>A) c.3309G>A (p.Glu1103=) | dbSNP gnomAD v2 |
| 19 | g.40394942T>A | CA405893842 | PRX | c.3410A>T (p.Glu1137Val) c.2993A>T (p.Glu998Val) c.3695A>T (p.Glu1232Val) c.3285A>T c.3271A>T c.3372A>T c.3297A>T c.*3615A>T (n.*3615A>T) c.3308A>T (p.Glu1103Val) | |
| 19 | g.40394942T>C | CA405893844 | PRX | c.3410A>G (p.Glu1137Gly) c.2993A>G (p.Glu998Gly) c.3695A>G (p.Glu1232Gly) c.3285A>G c.3271A>G c.3372A>G c.3297A>G c.*3615A>G (n.*3615A>G) c.3308A>G (p.Glu1103Gly) | gnomAD v4 |
| 19 | g.40394942T>G | CA405893846 | PRX | c.3410A>C (p.Glu1137Ala) c.2993A>C (p.Glu998Ala) c.3695A>C (p.Glu1232Ala) c.3285A>C c.3271A>C c.3372A>C c.3297A>C c.*3615A>C (n.*3615A>C) c.3308A>C (p.Glu1103Ala) | |
| 19 | g.40394943C>A | CA405893848 | PRX | c.3409G>T (p.Glu1137Ter) c.2992G>T (p.Glu998Ter) c.3694G>T (p.Glu1232Ter) c.3284G>T c.3270G>T c.3371G>T c.3296G>T c.*3614G>T (n.*3614G>T) c.3307G>T (p.Glu1103Ter) | |
| 19 | g.40394943C>G | CA405893850 | PRX | c.3409G>C (p.Glu1137Gln) c.2992G>C (p.Glu998Gln) c.3694G>C (p.Glu1232Gln) c.3284G>C c.3270G>C c.3371G>C c.3296G>C c.*3614G>C (n.*3614G>C) c.3307G>C (p.Glu1103Gln) | |
| 19 | g.40394943C>T | CA405893852 | PRX | c.3409G>A (p.Glu1137Lys) c.2992G>A (p.Glu998Lys) c.3694G>A (p.Glu1232Lys) c.3284G>A c.3270G>A c.3371G>A c.3296G>A c.*3614G>A (n.*3614G>A) c.3307G>A (p.Glu1103Lys) | COSMIC |
| 19 | g.40394944A>C | CA507678497 | PRX | c.3408T>G (p.Thr1136=) c.2991T>G (p.Thr997=) c.3693T>G (p.Thr1231=) c.3283T>G c.3269T>G c.3370T>G c.3295T>G c.*3613T>G (n.*3613T>G) c.3306T>G (p.Thr1102=) | |
| 19 | g.40394944A>G | CA507678500 | PRX | c.3408T>C (p.Thr1136=) c.2991T>C (p.Thr997=) c.3693T>C (p.Thr1231=) c.3283T>C c.3269T>C c.3370T>C c.3295T>C c.*3613T>C (n.*3613T>C) c.3306T>C (p.Thr1102=) | |
| 19 | g.40394944A>T | CA507678502 | PRX | c.3408T>A (p.Thr1136=) c.2991T>A (p.Thr997=) c.3693T>A (p.Thr1231=) c.3283T>A c.3269T>A c.3370T>A c.3295T>A c.*3613T>A (n.*3613T>A) c.3306T>A (p.Thr1102=) | |
| 19 | g.40394945G>A | CA405893856 | PRX | c.3407C>T (p.Thr1136Ile) c.2990C>T (p.Thr997Ile) c.3692C>T (p.Thr1231Ile) c.3282C>T c.3268C>T c.3369C>T c.3294C>T c.*3612C>T (n.*3612C>T) c.3305C>T (p.Thr1102Ile) | |
| 19 | g.40394945G>C | CA405893858 | PRX | c.3407C>G (p.Thr1136Ser) c.2990C>G (p.Thr997Ser) c.3692C>G (p.Thr1231Ser) c.3282C>G c.3268C>G c.3369C>G c.3294C>G c.*3612C>G (n.*3612C>G) c.3305C>G (p.Thr1102Ser) | |
| 19 | g.40394945G>T | CA405893860 | PRX | c.3407C>A (p.Thr1136Asn) c.2990C>A (p.Thr997Asn) c.3692C>A (p.Thr1231Asn) c.3282C>A c.3268C>A c.3369C>A c.3294C>A c.*3612C>A (n.*3612C>A) c.3305C>A (p.Thr1102Asn) | gnomAD v4 |
| 19 | g.40394946T>A | CA405893864 | PRX | c.3406A>T (p.Thr1136Ser) c.2989A>T (p.Thr997Ser) c.3691A>T (p.Thr1231Ser) c.3281A>T c.3267A>T c.3368A>T c.3293A>T c.*3611A>T (n.*3611A>T) c.3304A>T (p.Thr1102Ser) | |
| 19 | g.40394946T>C | CA405893868 | PRX | c.3406A>G (p.Thr1136Ala) c.2989A>G (p.Thr997Ala) c.3691A>G (p.Thr1231Ala) c.3281A>G c.3267A>G c.3368A>G c.3293A>G c.*3611A>G (n.*3611A>G) c.3304A>G (p.Thr1102Ala) | |
| 19 | g.40394946T>G | CA405893866 | PRX | c.3406A>C (p.Thr1136Pro) c.2989A>C (p.Thr997Pro) c.3691A>C (p.Thr1231Pro) c.3281A>C c.3267A>C c.3368A>C c.3293A>C c.*3611A>C (n.*3611A>C) c.3304A>C (p.Thr1102Pro) | gnomAD v4 |
| 19 | g.40394947G>A | CA507678507 | PRX | c.3405C>T (p.Val1135=) c.2988C>T (p.Val996=) c.3690C>T (p.Val1230=) c.3280C>T c.3266C>T c.3367C>T c.3292C>T c.*3610C>T (n.*3610C>T) c.3303C>T (p.Val1101=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394947G>C | CA507678509 | PRX | c.3405C>G (p.Val1135=) c.2988C>G (p.Val996=) c.3690C>G (p.Val1230=) c.3280C>G c.3266C>G c.3367C>G c.3292C>G c.*3610C>G (n.*3610C>G) c.3303C>G (p.Val1101=) | |
| 19 | g.40394947G= | CA2335960926 | PRX | c.3405C= (p.Val1135=) c.2988C= (p.Val996=) c.3690C= (p.Val1230=) c.3280C= c.3266C= c.3367C= c.3292C= c.*3610C= (n.*3610C=) c.3303C= (p.Val1101=) | |
| 19 | g.40394947G>T | CA507678510 | PRX | c.3405C>A (p.Val1135=) c.2988C>A (p.Val996=) c.3690C>A (p.Val1230=) c.3280C>A c.3266C>A c.3367C>A c.3292C>A c.*3610C>A (n.*3610C>A) c.3303C>A (p.Val1101=) | gnomAD v4 |
| 19 | g.40394948A>C | CA405893871 | PRX | c.3404T>G (p.Val1135Gly) c.2987T>G (p.Val996Gly) c.3689T>G (p.Val1230Gly) c.3279T>G c.3265T>G c.3366T>G c.3291T>G c.*3609T>G (n.*3609T>G) c.3302T>G (p.Val1101Gly) | |
| 19 | g.40394948A>G | CA405893874 | PRX | c.3404T>C (p.Val1135Ala) c.2987T>C (p.Val996Ala) c.3689T>C (p.Val1230Ala) c.3279T>C c.3265T>C c.3366T>C c.3291T>C c.*3609T>C (n.*3609T>C) c.3302T>C (p.Val1101Ala) | |
| 19 | g.40394948A>T | CA405893876 | PRX | c.3404T>A (p.Val1135Asp) c.2987T>A (p.Val996Asp) c.3689T>A (p.Val1230Asp) c.3279T>A c.3265T>A c.3366T>A c.3291T>A c.*3609T>A (n.*3609T>A) c.3302T>A (p.Val1101Asp) | |
| 19 | g.40394949C>A | CA405893879 | PRX | c.3403G>T (p.Val1135Phe) c.2986G>T (p.Val996Phe) c.3688G>T (p.Val1230Phe) c.3278G>T c.3264G>T c.3365G>T c.3290G>T c.*3608G>T (n.*3608G>T) c.3301G>T (p.Val1101Phe) | |
| 19 | g.40394949C= | CA2335960927 | PRX | c.3403G= (p.Val1135=) c.2986G= (p.Val996=) c.3688G= (p.Val1230=) c.3278G= c.3264G= c.3365G= c.3290G= c.*3608G= (n.*3608G=) c.3301G= (p.Val1101=) | |
| 19 | g.40394949C>G | CA405893881 | PRX | c.3403G>C (p.Val1135Leu) c.2986G>C (p.Val996Leu) c.3688G>C (p.Val1230Leu) c.3278G>C c.3264G>C c.3365G>C c.3290G>C c.*3608G>C (n.*3608G>C) c.3301G>C (p.Val1101Leu) | |
| 19 | g.40394949C>T | CA9443864 | PRX | c.3403G>A (p.Val1135Ile) c.2986G>A (p.Val996Ile) c.3688G>A (p.Val1230Ile) c.3278G>A c.3264G>A c.3365G>A c.3290G>A c.*3608G>A (n.*3608G>A) c.3301G>A (p.Val1101Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394950C>A | CA507678521 | PRX | c.3402G>T (p.Val1134=) c.2985G>T (p.Val995=) c.3687G>T (p.Val1229=) c.3277G>T c.3263G>T c.3364G>T c.3289G>T c.*3607G>T (n.*3607G>T) c.3300G>T (p.Val1100=) | |
| 19 | g.40394950C>G | CA507678523 | PRX | c.3402G>C (p.Val1134=) c.2985G>C (p.Val995=) c.3687G>C (p.Val1229=) c.3277G>C c.3263G>C c.3364G>C c.3289G>C c.*3607G>C (n.*3607G>C) c.3300G>C (p.Val1100=) | |
| 19 | g.40394950C>T | CA507678524 | PRX | c.3402G>A (p.Val1134=) c.2985G>A (p.Val995=) c.3687G>A (p.Val1229=) c.3277G>A c.3263G>A c.3364G>A c.3289G>A c.*3607G>A (n.*3607G>A) c.3300G>A (p.Val1100=) | |
| 19 | g.40394951A= | CA2335960928 | PRX | c.3401T= (p.Val1134=) c.2984T= (p.Val995=) c.3686T= (p.Val1229=) c.3276T= c.3262T= c.3363T= c.3288T= c.*3606T= (n.*3606T=) c.3299T= (p.Val1100=) | |
| 19 | g.40394951A>C | CA405893890 | PRX | c.3401T>G (p.Val1134Gly) c.2984T>G (p.Val995Gly) c.3686T>G (p.Val1229Gly) c.3276T>G c.3262T>G c.3363T>G c.3288T>G c.*3606T>G (n.*3606T>G) c.3299T>G (p.Val1100Gly) | |
| 19 | g.40394951A>G | CA9443865 | PRX | c.3401T>C (p.Val1134Ala) c.2984T>C (p.Val995Ala) c.3686T>C (p.Val1229Ala) c.3276T>C c.3262T>C c.3363T>C c.3288T>C c.*3606T>C (n.*3606T>C) c.3299T>C (p.Val1100Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394951A>T | CA405893886 | PRX | c.3401T>A (p.Val1134Glu) c.2984T>A (p.Val995Glu) c.3686T>A (p.Val1229Glu) c.3276T>A c.3262T>A c.3363T>A c.3288T>A c.*3606T>A (n.*3606T>A) c.3299T>A (p.Val1100Glu) | |
| 19 | g.40394952C>A | CA334561 | PRX | c.3400G>T (p.Val1134Leu) c.2983G>T (p.Val995Leu) c.3685G>T (p.Val1229Leu) c.3275G>T c.3261G>T c.3362G>T c.3287G>T c.*3605G>T (n.*3605G>T) c.3298G>T (p.Val1100Leu) | ClinVar dbSNP |
| 19 | g.40394952C= | CA2335960929 | PRX | c.3400G= (p.Val1134=) c.2983G= (p.Val995=) c.3685G= (p.Val1229=) c.3275G= c.3261G= c.3362G= c.3287G= c.*3605G= (n.*3605G=) c.3298G= (p.Val1100=) | |
| 19 | g.40394952C>G | CA405893896 | PRX | c.3400G>C (p.Val1134Leu) c.2983G>C (p.Val995Leu) c.3685G>C (p.Val1229Leu) c.3275G>C c.3261G>C c.3362G>C c.3287G>C c.*3605G>C (n.*3605G>C) c.3298G>C (p.Val1100Leu) | |
| 19 | g.40394952C>T | CA405893899 | PRX | c.3400G>A (p.Val1134Met) c.2983G>A (p.Val995Met) c.3685G>A (p.Val1229Met) c.3275G>A c.3261G>A c.3362G>A c.3287G>A c.*3605G>A (n.*3605G>A) c.3298G>A (p.Val1100Met) | |
| 19 | g.40394953dup | CA9443866 | PRX | c.3400dup (p.Val1134GlyfsTer4) c.2983dup (p.Val995GlyfsTer4) c.3685dup (p.Val1229GlyfsTer4) c.3275dup c.3261dup c.3362dup c.3287dup c.*3605dup (n.*3605dup) c.3298dup (p.Val1100GlyfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394953C>A | CA405893901 | PRX | c.3399G>T (p.Gln1133His) c.2982G>T (p.Gln994His) c.3684G>T (p.Gln1228His) c.3274G>T c.3260G>T c.3361G>T c.3286G>T c.*3604G>T (n.*3604G>T) c.3297G>T (p.Gln1099His) | |
| 19 | g.40394953C= | CA2335960930 | PRX | c.3399G= (p.Gln1133=) c.2982G= (p.Gln994=) c.3684G= (p.Gln1228=) c.3274G= c.3260G= c.3361G= c.3286G= c.*3604G= (n.*3604G=) c.3297G= (p.Gln1099=) | |
| 19 | g.40394953C>G | CA405893903 | PRX | c.3399G>C (p.Gln1133His) c.2982G>C (p.Gln994His) c.3684G>C (p.Gln1228His) c.3274G>C c.3260G>C c.3361G>C c.3286G>C c.*3604G>C (n.*3604G>C) c.3297G>C (p.Gln1099His) | |
| 19 | g.40394953C>T | CA507678528 | PRX | c.3399G>A (p.Gln1133=) c.2982G>A (p.Gln994=) c.3684G>A (p.Gln1228=) c.3274G>A c.3260G>A c.3361G>A c.3286G>A c.*3604G>A (n.*3604G>A) c.3297G>A (p.Gln1099=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40394954T>A | CA405893906 | PRX | c.3398A>T (p.Gln1133Leu) c.2981A>T (p.Gln994Leu) c.3683A>T (p.Gln1228Leu) c.3273A>T c.3259A>T c.3360A>T c.3285A>T c.*3603A>T (n.*3603A>T) c.3296A>T (p.Gln1099Leu) | |
| 19 | g.40394954T>C | CA405893910 | PRX | c.3398A>G (p.Gln1133Arg) c.2981A>G (p.Gln994Arg) c.3683A>G (p.Gln1228Arg) c.3273A>G c.3259A>G c.3360A>G c.3285A>G c.*3603A>G (n.*3603A>G) c.3296A>G (p.Gln1099Arg) | |
| 19 | g.40394954T>G | CA405893908 | PRX | c.3398A>C (p.Gln1133Pro) c.2981A>C (p.Gln994Pro) c.3683A>C (p.Gln1228Pro) c.3273A>C c.3259A>C c.3360A>C c.3285A>C c.*3603A>C (n.*3603A>C) c.3296A>C (p.Gln1099Pro) | |
| 19 | g.40394955G>A | CA405893913 | PRX | c.3397C>T (p.Gln1133Ter) c.2980C>T (p.Gln994Ter) c.3682C>T (p.Gln1228Ter) c.3272C>T c.3258C>T c.3359C>T c.3284C>T c.*3602C>T (n.*3602C>T) c.3295C>T (p.Gln1099Ter) | ClinVar |
| 19 | g.40394955G>C | CA405893915 | PRX | c.3397C>G (p.Gln1133Glu) c.2980C>G (p.Gln994Glu) c.3682C>G (p.Gln1228Glu) c.3272C>G c.3258C>G c.3359C>G c.3284C>G c.*3602C>G (n.*3602C>G) c.3295C>G (p.Gln1099Glu) | |
| 19 | g.40394955G>T | CA405893917 | PRX | c.3397C>A (p.Gln1133Lys) c.2980C>A (p.Gln994Lys) c.3682C>A (p.Gln1228Lys) c.3272C>A c.3258C>A c.3359C>A c.3284C>A c.*3602C>A (n.*3602C>A) c.3295C>A (p.Gln1099Lys) | |
| 19 | g.40394956C>A | CA507678539 | PRX | c.3396G>T (p.Gly1132=) c.2979G>T (p.Gly993=) c.3681G>T (p.Gly1227=) c.3271G>T c.3257G>T c.3358G>T c.3283G>T c.*3601G>T (n.*3601G>T) c.3294G>T (p.Gly1098=) | |
| 19 | g.40394956C>G | CA507678540 | PRX | c.3396G>C (p.Gly1132=) c.2979G>C (p.Gly993=) c.3681G>C (p.Gly1227=) c.3271G>C c.3257G>C c.3358G>C c.3283G>C c.*3601G>C (n.*3601G>C) c.3294G>C (p.Gly1098=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394956C>T | CA507678541 | PRX | c.3396G>A (p.Gly1132=) c.2979G>A (p.Gly993=) c.3681G>A (p.Gly1227=) c.3271G>A c.3257G>A c.3358G>A c.3283G>A c.*3601G>A (n.*3601G>A) c.3294G>A (p.Gly1098=) | gnomAD v4 |
| 19 | g.40394957C>A | CA405893920 | PRX | c.3395G>T (p.Gly1132Val) c.2978G>T (p.Gly993Val) c.3680G>T (p.Gly1227Val) c.3270G>T c.3256G>T c.3357G>T c.3282G>T c.*3600G>T (n.*3600G>T) c.3293G>T (p.Gly1098Val) | gnomAD v4 |
| 19 | g.40394957C>G | CA405893922 | PRX | c.3395G>C (p.Gly1132Ala) c.2978G>C (p.Gly993Ala) c.3680G>C (p.Gly1227Ala) c.3270G>C c.3256G>C c.3357G>C c.3282G>C c.*3600G>C (n.*3600G>C) c.3293G>C (p.Gly1098Ala) | |
| 19 | g.40394957C>T | CA405893925 | PRX | c.3395G>A (p.Gly1132Glu) c.2978G>A (p.Gly993Glu) c.3680G>A (p.Gly1227Glu) c.3270G>A c.3256G>A c.3357G>A c.3282G>A c.*3600G>A (n.*3600G>A) c.3293G>A (p.Gly1098Glu) | |
| 19 | g.40394958C>A | CA405893927 | PRX | c.3394G>T (p.Gly1132Trp) c.2977G>T (p.Gly993Trp) c.3679G>T (p.Gly1227Trp) c.3269G>T c.3255G>T c.3356G>T c.3281G>T c.*3599G>T (n.*3599G>T) c.3292G>T (p.Gly1098Trp) | dbSNP |
| 19 | g.40394958C= | CA2335960931 | PRX | c.3394G= (p.Gly1132=) c.2977G= (p.Gly993=) c.3679G= (p.Gly1227=) c.3269G= c.3255G= c.3356G= c.3281G= c.*3599G= (n.*3599G=) c.3292G= (p.Gly1098=) | |
| 19 | g.40394958C>G | CA405893929 | PRX | c.3394G>C (p.Gly1132Arg) c.2977G>C (p.Gly993Arg) c.3679G>C (p.Gly1227Arg) c.3269G>C c.3255G>C c.3356G>C c.3281G>C c.*3599G>C (n.*3599G>C) c.3292G>C (p.Gly1098Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394958C>T | CA154812 | PRX | c.3394G>A (p.Gly1132Arg) c.2977G>A (p.Gly993Arg) c.3679G>A (p.Gly1227Arg) c.3269G>A c.3255G>A c.3356G>A c.3281G>A c.*3599G>A (n.*3599G>A) c.3292G>A (p.Gly1098Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394959G>A | CA507678548 | PRX | c.3393C>T (p.Ala1131=) c.2976C>T (p.Ala992=) c.3678C>T (p.Ala1226=) c.3268C>T c.3254C>T c.3355C>T c.3280C>T c.*3598C>T (n.*3598C>T) c.3291C>T (p.Ala1097=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394959G>C | CA507678550 | PRX | c.3393C>G (p.Ala1131=) c.2976C>G (p.Ala992=) c.3678C>G (p.Ala1226=) c.3268C>G c.3254C>G c.3355C>G c.3280C>G c.*3598C>G (n.*3598C>G) c.3291C>G (p.Ala1097=) | |
| 19 | g.40394959G>T | CA507678552 | PRX | c.3393C>A (p.Ala1131=) c.2976C>A (p.Ala992=) c.3678C>A (p.Ala1226=) c.3268C>A c.3254C>A c.3355C>A c.3280C>A c.*3598C>A (n.*3598C>A) c.3291C>A (p.Ala1097=) | gnomAD v4 |
| 19 | g.40394960G>A | CA405893934 | PRX | c.3392C>T (p.Ala1131Val) c.2975C>T (p.Ala992Val) c.3677C>T (p.Ala1226Val) c.3267C>T c.3253C>T c.3354C>T c.3279C>T c.*3597C>T (n.*3597C>T) c.3290C>T (p.Ala1097Val) | gnomAD v4 |
| 19 | g.40394960G>C | CA308416991 | PRX | c.3392C>G (p.Ala1131Gly) c.2975C>G (p.Ala992Gly) c.3677C>G (p.Ala1226Gly) c.3267C>G c.3253C>G c.3354C>G c.3279C>G c.*3597C>G (n.*3597C>G) c.3290C>G (p.Ala1097Gly) | dbSNP |
| 19 | g.40394960G= | CA2335960932 | PRX | c.3392C= (p.Ala1131=) c.2975C= (p.Ala992=) c.3677C= (p.Ala1226=) c.3267C= c.3253C= c.3354C= c.3279C= c.*3597C= (n.*3597C=) c.3290C= (p.Ala1097=) | |
| 19 | g.40394960G>T | CA9443867 | PRX | c.3392C>A (p.Ala1131Asp) c.2975C>A (p.Ala992Asp) c.3677C>A (p.Ala1226Asp) c.3267C>A c.3253C>A c.3354C>A c.3279C>A c.*3597C>A (n.*3597C>A) c.3290C>A (p.Ala1097Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394961C>A | CA405893941 | PRX | c.3391G>T (p.Ala1131Ser) c.2974G>T (p.Ala992Ser) c.3676G>T (p.Ala1226Ser) c.3266G>T c.3252G>T c.3353G>T c.3278G>T c.*3596G>T (n.*3596G>T) c.3289G>T (p.Ala1097Ser) | |
| 19 | g.40394961C>G | CA405893945 | PRX | c.3391G>C (p.Ala1131Pro) c.2974G>C (p.Ala992Pro) c.3676G>C (p.Ala1226Pro) c.3266G>C c.3252G>C c.3353G>C c.3278G>C c.*3596G>C (n.*3596G>C) c.3289G>C (p.Ala1097Pro) | |
| 19 | g.40394961C>T | CA405893942 | PRX | c.3391G>A (p.Ala1131Thr) c.2974G>A (p.Ala992Thr) c.3676G>A (p.Ala1226Thr) c.3266G>A c.3252G>A c.3353G>A c.3278G>A c.*3596G>A (n.*3596G>A) c.3289G>A (p.Ala1097Thr) | |
| 19 | g.40394962T>A | CA507678561 | PRX | c.3390A>T (p.Thr1130=) c.2973A>T (p.Thr991=) c.3675A>T (p.Thr1225=) c.3265A>T c.3251A>T c.3352A>T c.3277A>T c.*3595A>T (n.*3595A>T) c.3288A>T (p.Thr1096=) | |
| 19 | g.40394962T>C | CA507678564 | PRX | c.3390A>G (p.Thr1130=) c.2973A>G (p.Thr991=) c.3675A>G (p.Thr1225=) c.3265A>G c.3251A>G c.3352A>G c.3277A>G c.*3595A>G (n.*3595A>G) c.3288A>G (p.Thr1096=) | |
| 19 | g.40394962T>G | CA507678562 | PRX | c.3390A>C (p.Thr1130=) c.2973A>C (p.Thr991=) c.3675A>C (p.Thr1225=) c.3265A>C c.3251A>C c.3352A>C c.3277A>C c.*3595A>C (n.*3595A>C) c.3288A>C (p.Thr1096=) | |
| 19 | g.40394963G>A | CA405893946 | PRX | c.3389C>T (p.Thr1130Ile) c.2972C>T (p.Thr991Ile) c.3674C>T (p.Thr1225Ile) c.3264C>T c.3250C>T c.3351C>T c.3276C>T c.*3594C>T (n.*3594C>T) c.3287C>T (p.Thr1096Ile) | |
| 19 | g.40394963G>C | CA405893948 | PRX | c.3389C>G (p.Thr1130Arg) c.2972C>G (p.Thr991Arg) c.3674C>G (p.Thr1225Arg) c.3264C>G c.3250C>G c.3351C>G c.3276C>G c.*3594C>G (n.*3594C>G) c.3287C>G (p.Thr1096Arg) | ClinVar dbSNP |
| 19 | g.40394963G= | CA2335960933 | PRX | c.3389C= (p.Thr1130=) c.2972C= (p.Thr991=) c.3674C= (p.Thr1225=) c.3264C= c.3250C= c.3351C= c.3276C= c.*3594C= (n.*3594C=) c.3287C= (p.Thr1096=) | |
| 19 | g.40394963G>T | CA405893950 | PRX | c.3389C>A (p.Thr1130Lys) c.2972C>A (p.Thr991Lys) c.3674C>A (p.Thr1225Lys) c.3264C>A c.3250C>A c.3351C>A c.3276C>A c.*3594C>A (n.*3594C>A) c.3287C>A (p.Thr1096Lys) | |
| 19 | g.40394964T>A | CA405893953 | PRX | c.3388A>T (p.Thr1130Ser) c.2971A>T (p.Thr991Ser) c.3673A>T (p.Thr1225Ser) c.3263A>T c.3249A>T c.3350A>T c.3275A>T c.*3593A>T (n.*3593A>T) c.3286A>T (p.Thr1096Ser) | |
| 19 | g.40394964T>C | CA405893955 | PRX | c.3388A>G (p.Thr1130Ala) c.2971A>G (p.Thr991Ala) c.3673A>G (p.Thr1225Ala) c.3263A>G c.3249A>G c.3350A>G c.3275A>G c.*3593A>G (n.*3593A>G) c.3286A>G (p.Thr1096Ala) | |
| 19 | g.40394964T>G | CA405893957 | PRX | c.3388A>C (p.Thr1130Pro) c.2971A>C (p.Thr991Pro) c.3673A>C (p.Thr1225Pro) c.3263A>C c.3249A>C c.3350A>C c.3275A>C c.*3593A>C (n.*3593A>C) c.3286A>C (p.Thr1096Pro) | |
| 19 | g.40394965G>A | CA507678572 | PRX | c.3387C>T (p.Ser1129=) c.2970C>T (p.Ser990=) c.3672C>T (p.Ser1224=) c.3262C>T c.3248C>T c.3349C>T c.3274C>T c.*3592C>T (n.*3592C>T) c.3285C>T (p.Ser1095=) | ClinVar dbSNP |
| 19 | g.40394965G>C | CA507678573 | PRX | c.3387C>G (p.Ser1129=) c.2970C>G (p.Ser990=) c.3672C>G (p.Ser1224=) c.3262C>G c.3248C>G c.3349C>G c.3274C>G c.*3592C>G (n.*3592C>G) c.3285C>G (p.Ser1095=) | |
| 19 | g.40394965G>T | CA507678574 | PRX | c.3387C>A (p.Ser1129=) c.2970C>A (p.Ser990=) c.3672C>A (p.Ser1224=) c.3262C>A c.3248C>A c.3349C>A c.3274C>A c.*3592C>A (n.*3592C>A) c.3285C>A (p.Ser1095=) | gnomAD v4 |
| 19 | g.40394966G>A | CA405893960 | PRX | c.3386C>T (p.Ser1129Phe) c.2969C>T (p.Ser990Phe) c.3671C>T (p.Ser1224Phe) c.3261C>T c.3247C>T c.3348C>T c.3273C>T c.*3591C>T (n.*3591C>T) c.3284C>T (p.Ser1095Phe) | |
| 19 | g.40394966G>C | CA405893962 | PRX | c.3386C>G (p.Ser1129Cys) c.2969C>G (p.Ser990Cys) c.3671C>G (p.Ser1224Cys) c.3261C>G c.3247C>G c.3348C>G c.3273C>G c.*3591C>G (n.*3591C>G) c.3284C>G (p.Ser1095Cys) | |
| 19 | g.40394966G>T | CA405893964 | PRX | c.3386C>A (p.Ser1129Tyr) c.2969C>A (p.Ser990Tyr) c.3671C>A (p.Ser1224Tyr) c.3261C>A c.3247C>A c.3348C>A c.3273C>A c.*3591C>A (n.*3591C>A) c.3284C>A (p.Ser1095Tyr) | gnomAD v4 |
| 19 | g.40394967A= | CA2335960934 | PRX | c.3385T= (p.Ser1129=) c.2968T= (p.Ser990=) c.3670T= (p.Ser1224=) c.3260T= c.3246T= c.3347T= c.3272T= c.*3590T= (n.*3590T=) c.3283T= (p.Ser1095=) | |
| 19 | g.40394967A>C | CA405893967 | PRX | c.3385T>G (p.Ser1129Ala) c.2968T>G (p.Ser990Ala) c.3670T>G (p.Ser1224Ala) c.3260T>G c.3246T>G c.3347T>G c.3272T>G c.*3590T>G (n.*3590T>G) c.3283T>G (p.Ser1095Ala) | |
| 19 | g.40394967A>G | CA9443868 | PRX | c.3385T>C (p.Ser1129Pro) c.2968T>C (p.Ser990Pro) c.3670T>C (p.Ser1224Pro) c.3260T>C c.3246T>C c.3347T>C c.3272T>C c.*3590T>C (n.*3590T>C) c.3283T>C (p.Ser1095Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394967A>T | CA405893971 | PRX | c.3385T>A (p.Ser1129Thr) c.2968T>A (p.Ser990Thr) c.3670T>A (p.Ser1224Thr) c.3260T>A c.3246T>A c.3347T>A c.3272T>A c.*3590T>A (n.*3590T>A) c.3283T>A (p.Ser1095Thr) | |
| 19 | g.40394968C>A | CA507678585 | PRX | c.3384G>T (p.Val1128=) c.2967G>T (p.Val989=) c.3669G>T (p.Val1223=) c.3259G>T c.3245G>T c.3346G>T c.3271G>T c.*3589G>T (n.*3589G>T) c.3282G>T (p.Val1094=) | |
| 19 | g.40394968C>G | CA507678586 | PRX | c.3384G>C (p.Val1128=) c.2967G>C (p.Val989=) c.3669G>C (p.Val1223=) c.3259G>C c.3245G>C c.3346G>C c.3271G>C c.*3589G>C (n.*3589G>C) c.3282G>C (p.Val1094=) | gnomAD v4 |
| 19 | g.40394968C>T | CA507678587 | PRX | c.3384G>A (p.Val1128=) c.2967G>A (p.Val989=) c.3669G>A (p.Val1223=) c.3259G>A c.3245G>A c.3346G>A c.3271G>A c.*3589G>A (n.*3589G>A) c.3282G>A (p.Val1094=) | |
| 19 | g.40394969A>C | CA405893979 | PRX | c.3383T>G (p.Val1128Gly) c.2966T>G (p.Val989Gly) c.3668T>G (p.Val1223Gly) c.3258T>G c.3244T>G c.3345T>G c.3270T>G c.*3588T>G (n.*3588T>G) c.3281T>G (p.Val1094Gly) | |
| 19 | g.40394969A>G | CA405893974 | PRX | c.3383T>C (p.Val1128Ala) c.2966T>C (p.Val989Ala) c.3668T>C (p.Val1223Ala) c.3258T>C c.3244T>C c.3345T>C c.3270T>C c.*3588T>C (n.*3588T>C) c.3281T>C (p.Val1094Ala) | |
| 19 | g.40394969A>T | CA405893976 | PRX | c.3383T>A (p.Val1128Glu) c.2966T>A (p.Val989Glu) c.3668T>A (p.Val1223Glu) c.3258T>A c.3244T>A c.3345T>A c.3270T>A c.*3588T>A (n.*3588T>A) c.3281T>A (p.Val1094Glu) | |
| 19 | g.40394970C>A | CA405893982 | PRX | c.3382G>T (p.Val1128Leu) c.2965G>T (p.Val989Leu) c.3667G>T (p.Val1223Leu) c.3257G>T c.3243G>T c.3344G>T c.3269G>T c.*3587G>T (n.*3587G>T) c.3280G>T (p.Val1094Leu) | |
| 19 | g.40394970C>G | CA405893983 | PRX | c.3382G>C (p.Val1128Leu) c.2965G>C (p.Val989Leu) c.3667G>C (p.Val1223Leu) c.3257G>C c.3243G>C c.3344G>C c.3269G>C c.*3587G>C (n.*3587G>C) c.3280G>C (p.Val1094Leu) | |
| 19 | g.40394970C>T | CA405893984 | PRX | c.3382G>A (p.Val1128Met) c.2965G>A (p.Val989Met) c.3667G>A (p.Val1223Met) c.3257G>A c.3243G>A c.3344G>A c.3269G>A c.*3587G>A (n.*3587G>A) c.3280G>A (p.Val1094Met) | COSMIC |
| 19 | g.40394971C>A | CA405893987 | PRX | c.3381G>T (p.Lys1127Asn) c.2964G>T (p.Lys988Asn) c.3666G>T (p.Lys1222Asn) c.3256G>T c.3242G>T c.3343G>T c.3268G>T c.*3586G>T (n.*3586G>T) c.3279G>T (p.Lys1093Asn) | |
| 19 | g.40394971C= | CA2335960935 | PRX | c.3381G= (p.Lys1127=) c.2964G= (p.Lys988=) c.3666G= (p.Lys1222=) c.3256G= c.3242G= c.3343G= c.3268G= c.*3586G= (n.*3586G=) c.3279G= (p.Lys1093=) | |
| 19 | g.40394971C>G | CA9443869 | PRX | c.3381G>C (p.Lys1127Asn) c.2964G>C (p.Lys988Asn) c.3666G>C (p.Lys1222Asn) c.3256G>C c.3242G>C c.3343G>C c.3268G>C c.*3586G>C (n.*3586G>C) c.3279G>C (p.Lys1093Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40394971C>T | CA507678600 | PRX | c.3381G>A (p.Lys1127=) c.2964G>A (p.Lys988=) c.3666G>A (p.Lys1222=) c.3256G>A c.3242G>A c.3343G>A c.3268G>A c.*3586G>A (n.*3586G>A) c.3279G>A (p.Lys1093=) | gnomAD v4 |
| 19 | g.40394972T>A | CA405893991 | PRX | c.3380A>T (p.Lys1127Met) c.2963A>T (p.Lys988Met) c.3665A>T (p.Lys1222Met) c.3255A>T c.3241A>T c.3342A>T c.3267A>T c.*3585A>T (n.*3585A>T) c.3278A>T (p.Lys1093Met) | gnomAD v4 |
| 19 | g.40394972T>C | CA405893994 | PRX | c.3380A>G (p.Lys1127Arg) c.2963A>G (p.Lys988Arg) c.3665A>G (p.Lys1222Arg) c.3255A>G c.3241A>G c.3342A>G c.3267A>G c.*3585A>G (n.*3585A>G) c.3278A>G (p.Lys1093Arg) | |
| 19 | g.40394972T>G | CA405893996 | PRX | c.3380A>C (p.Lys1127Thr) c.2963A>C (p.Lys988Thr) c.3665A>C (p.Lys1222Thr) c.3255A>C c.3241A>C c.3342A>C c.3267A>C c.*3585A>C (n.*3585A>C) c.3278A>C (p.Lys1093Thr) | |
| 19 | g.40394973T>A | CA308417012 | PRX | c.3379A>T (p.Lys1127Ter) c.2962A>T (p.Lys988Ter) c.3664A>T (p.Lys1222Ter) c.3254A>T c.3240A>T c.3341A>T c.3266A>T c.*3584A>T (n.*3584A>T) c.3277A>T (p.Lys1093Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394973T>C | CA405893998 | PRX | c.3379A>G (p.Lys1127Glu) c.2962A>G (p.Lys988Glu) c.3664A>G (p.Lys1222Glu) c.3254A>G c.3240A>G c.3341A>G c.3266A>G c.*3584A>G (n.*3584A>G) c.3277A>G (p.Lys1093Glu) | |
| 19 | g.40394973T>G | CA405894001 | PRX | c.3379A>C (p.Lys1127Gln) c.2962A>C (p.Lys988Gln) c.3664A>C (p.Lys1222Gln) c.3254A>C c.3240A>C c.3341A>C c.3266A>C c.*3584A>C (n.*3584A>C) c.3277A>C (p.Lys1093Gln) | |
| 19 | g.40394973T= | CA2335960936 | PRX | c.3379A= (p.Lys1127=) c.2962A= (p.Lys988=) c.3664A= (p.Lys1222=) c.3254A= c.3240A= c.3341A= c.3266A= c.*3584A= (n.*3584A=) c.3277A= (p.Lys1093=) | |
| 19 | g.40394974C>A | CA507678606 | PRX | c.3378G>T (p.Leu1126=) c.2961G>T (p.Leu987=) c.3663G>T (p.Leu1221=) c.3253G>T c.3239G>T c.3340G>T c.3265G>T c.*3583G>T (n.*3583G>T) c.3276G>T (p.Leu1092=) | gnomAD v4 |
| 19 | g.40394974C= | CA2335960937 | PRX | c.3378G= (p.Leu1126=) c.2961G= (p.Leu987=) c.3663G= (p.Leu1221=) c.3253G= c.3239G= c.3340G= c.3265G= c.*3583G= (n.*3583G=) c.3276G= (p.Leu1092=) | |
| 19 | g.40394974C>G | CA507678607 | PRX | c.3378G>C (p.Leu1126=) c.2961G>C (p.Leu987=) c.3663G>C (p.Leu1221=) c.3253G>C c.3239G>C c.3340G>C c.3265G>C c.*3583G>C (n.*3583G>C) c.3276G>C (p.Leu1092=) | |
| 19 | g.40394974C>T | CA507678608 | PRX | c.3378G>A (p.Leu1126=) c.2961G>A (p.Leu987=) c.3663G>A (p.Leu1221=) c.3253G>A c.3239G>A c.3340G>A c.3265G>A c.*3583G>A (n.*3583G>A) c.3276G>A (p.Leu1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394975A= | CA2335960938 | PRX | c.3377T= (p.Leu1126=) c.2960T= (p.Leu987=) c.3662T= (p.Leu1221=) c.3252T= c.3238T= c.3339T= c.3264T= c.*3582T= (n.*3582T=) c.3275T= (p.Leu1092=) | |
| 19 | g.40394975A>C | CA9443870 | PRX | c.3377T>G (p.Leu1126Arg) c.2960T>G (p.Leu987Arg) c.3662T>G (p.Leu1221Arg) c.3252T>G c.3238T>G c.3339T>G c.3264T>G c.*3582T>G (n.*3582T>G) c.3275T>G (p.Leu1092Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394975A>G | CA405894006 | PRX | c.3377T>C (p.Leu1126Pro) c.2960T>C (p.Leu987Pro) c.3662T>C (p.Leu1221Pro) c.3252T>C c.3238T>C c.3339T>C c.3264T>C c.*3582T>C (n.*3582T>C) c.3275T>C (p.Leu1092Pro) | |
| 19 | g.40394975A>T | CA405894004 | PRX | c.3377T>A (p.Leu1126Gln) c.2960T>A (p.Leu987Gln) c.3662T>A (p.Leu1221Gln) c.3252T>A c.3238T>A c.3339T>A c.3264T>A c.*3582T>A (n.*3582T>A) c.3275T>A (p.Leu1092Gln) | |
| 19 | g.40394976G>A | CA507678610 | PRX | c.3376C>T (p.Leu1126=) c.2959C>T (p.Leu987=) c.3661C>T (p.Leu1221=) c.3251C>T c.3237C>T c.3338C>T c.3263C>T c.*3581C>T (n.*3581C>T) c.3274C>T (p.Leu1092=) | |
| 19 | g.40394976G>C | CA405894009 | PRX | c.3376C>G (p.Leu1126Val) c.2959C>G (p.Leu987Val) c.3661C>G (p.Leu1221Val) c.3251C>G c.3237C>G c.3338C>G c.3263C>G c.*3581C>G (n.*3581C>G) c.3274C>G (p.Leu1092Val) | |
| 19 | g.40394976G= | CA2335960939 | PRX | c.3376C= (p.Leu1126=) c.2959C= (p.Leu987=) c.3661C= (p.Leu1221=) c.3251C= c.3237C= c.3338C= c.3263C= c.*3581C= (n.*3581C=) c.3274C= (p.Leu1092=) | |
| 19 | g.40394976G>T | CA405894010 | PRX | c.3376C>A (p.Leu1126Met) c.2959C>A (p.Leu987Met) c.3661C>A (p.Leu1221Met) c.3251C>A c.3237C>A c.3338C>A c.3263C>A c.*3581C>A (n.*3581C>A) c.3274C>A (p.Leu1092Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394977G>A | CA9443871 | PRX | c.3375C>T (p.Gly1125=) c.2958C>T (p.Gly986=) c.3660C>T (p.Gly1220=) c.3250C>T c.3236C>T c.3337C>T c.3262C>T c.*3580C>T (n.*3580C>T) c.3273C>T (p.Gly1091=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394977G>C | CA507678617 | PRX | c.3375C>G (p.Gly1125=) c.2958C>G (p.Gly986=) c.3660C>G (p.Gly1220=) c.3250C>G c.3236C>G c.3337C>G c.3262C>G c.*3580C>G (n.*3580C>G) c.3273C>G (p.Gly1091=) | |
| 19 | g.40394977G= | CA2335960940 | PRX | c.3375C= (p.Gly1125=) c.2958C= (p.Gly986=) c.3660C= (p.Gly1220=) c.3250C= c.3236C= c.3337C= c.3262C= c.*3580C= (n.*3580C=) c.3273C= (p.Gly1091=) | |
| 19 | g.40394977G>T | CA507678620 | PRX | c.3375C>A (p.Gly1125=) c.2958C>A (p.Gly986=) c.3660C>A (p.Gly1220=) c.3250C>A c.3236C>A c.3337C>A c.3262C>A c.*3580C>A (n.*3580C>A) c.3273C>A (p.Gly1091=) | gnomAD v4 |
| 19 | g.40394978C>A | CA405894020 | PRX | c.3374G>T (p.Gly1125Val) c.2957G>T (p.Gly986Val) c.3659G>T (p.Gly1220Val) c.3249G>T c.3235G>T c.3336G>T c.3261G>T c.*3579G>T (n.*3579G>T) c.3272G>T (p.Gly1091Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394978C= | CA2335960941 | PRX | c.3374G= (p.Gly1125=) c.2957G= (p.Gly986=) c.3659G= (p.Gly1220=) c.3249G= c.3235G= c.3336G= c.3261G= c.*3579G= (n.*3579G=) c.3272G= (p.Gly1091=) | |
| 19 | g.40394978C>G | CA405894016 | PRX | c.3374G>C (p.Gly1125Ala) c.2957G>C (p.Gly986Ala) c.3659G>C (p.Gly1220Ala) c.3249G>C c.3235G>C c.3336G>C c.3261G>C c.*3579G>C (n.*3579G>C) c.3272G>C (p.Gly1091Ala) | |
| 19 | g.40394978C>T | CA405894018 | PRX | c.3374G>A (p.Gly1125Asp) c.2957G>A (p.Gly986Asp) c.3659G>A (p.Gly1220Asp) c.3249G>A c.3235G>A c.3336G>A c.3261G>A c.*3579G>A (n.*3579G>A) c.3272G>A (p.Gly1091Asp) | gnomAD v4 |
| 19 | g.40394979C>A | CA405894021 | PRX | c.3373G>T (p.Gly1125Cys) c.2956G>T (p.Gly986Cys) c.3658G>T (p.Gly1220Cys) c.3248G>T c.3234G>T c.3335G>T c.3260G>T c.*3578G>T (n.*3578G>T) c.3271G>T (p.Gly1091Cys) | |
| 19 | g.40394979C= | CA2335960942 | PRX | c.3373G= (p.Gly1125=) c.2956G= (p.Gly986=) c.3658G= (p.Gly1220=) c.3248G= c.3234G= c.3335G= c.3260G= c.*3578G= (n.*3578G=) c.3271G= (p.Gly1091=) | |
| 19 | g.40394979C>G | CA405894024 | PRX | c.3373G>C (p.Gly1125Arg) c.2956G>C (p.Gly986Arg) c.3658G>C (p.Gly1220Arg) c.3248G>C c.3234G>C c.3335G>C c.3260G>C c.*3578G>C (n.*3578G>C) c.3271G>C (p.Gly1091Arg) | |
| 19 | g.40394979C>T | CA9443872 | PRX | c.3373G>A (p.Gly1125Ser) c.2956G>A (p.Gly986Ser) c.3658G>A (p.Gly1220Ser) c.3248G>A c.3234G>A c.3335G>A c.3260G>A c.*3578G>A (n.*3578G>A) c.3271G>A (p.Gly1091Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394980T>A | CA507678634 | PRX | c.3372A>T (p.Ser1124=) c.2955A>T (p.Ser985=) c.3657A>T (p.Ser1219=) c.3247A>T c.3233A>T c.3334A>T c.3259A>T c.*3577A>T (n.*3577A>T) c.3270A>T (p.Ser1090=) | |
| 19 | g.40394980T>C | CA9443873 | PRX | c.3372A>G (p.Ser1124=) c.2955A>G (p.Ser985=) c.3657A>G (p.Ser1219=) c.3247A>G c.3233A>G c.3334A>G c.3259A>G c.*3577A>G (n.*3577A>G) c.3270A>G (p.Ser1090=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394980T>G | CA507678640 | PRX | c.3372A>C (p.Ser1124=) c.2955A>C (p.Ser985=) c.3657A>C (p.Ser1219=) c.3247A>C c.3233A>C c.3334A>C c.3259A>C c.*3577A>C (n.*3577A>C) c.3270A>C (p.Ser1090=) | |
| 19 | g.40394980T= | CA2335960943 | PRX | c.3372A= (p.Ser1124=) c.2955A= (p.Ser985=) c.3657A= (p.Ser1219=) c.3247A= c.3233A= c.3334A= c.3259A= c.*3577A= (n.*3577A=) c.3270A= (p.Ser1090=) | |
| 19 | g.40394981G>A | CA405894029 | PRX | c.3371C>T (p.Ser1124Leu) c.2954C>T (p.Ser985Leu) c.3656C>T (p.Ser1219Leu) c.3246C>T c.3232C>T c.3333C>T c.3258C>T c.*3576C>T (n.*3576C>T) c.3269C>T (p.Ser1090Leu) | |
| 19 | g.40394981G>C | CA405894032 | PRX | c.3371C>G (p.Ser1124Ter) c.2954C>G (p.Ser985Ter) c.3656C>G (p.Ser1219Ter) c.3246C>G c.3232C>G c.3333C>G c.3258C>G c.*3576C>G (n.*3576C>G) c.3269C>G (p.Ser1090Ter) | ClinVar gnomAD v4 |
| 19 | g.40394981G>T | CA405894035 | PRX | c.3371C>A (p.Ser1124Ter) c.2954C>A (p.Ser985Ter) c.3656C>A (p.Ser1219Ter) c.3246C>A c.3232C>A c.3333C>A c.3258C>A c.*3576C>A (n.*3576C>A) c.3269C>A (p.Ser1090Ter) | gnomAD v4 |
| 19 | g.40394982A>C | CA405894037 | PRX | c.3370T>G (p.Ser1124Ala) c.2953T>G (p.Ser985Ala) c.3655T>G (p.Ser1219Ala) c.3245T>G c.3231T>G c.3332T>G c.3257T>G c.*3575T>G (n.*3575T>G) c.3268T>G (p.Ser1090Ala) | |
| 19 | g.40394982A>G | CA405894039 | PRX | c.3370T>C (p.Ser1124Pro) c.2953T>C (p.Ser985Pro) c.3655T>C (p.Ser1219Pro) c.3245T>C c.3231T>C c.3332T>C c.3257T>C c.*3575T>C (n.*3575T>C) c.3268T>C (p.Ser1090Pro) | |
| 19 | g.40394982A>T | CA405894040 | PRX | c.3370T>A (p.Ser1124Thr) c.2953T>A (p.Ser985Thr) c.3655T>A (p.Ser1219Thr) c.3245T>A c.3231T>A c.3332T>A c.3257T>A c.*3575T>A (n.*3575T>A) c.3268T>A (p.Ser1090Thr) | |
| 19 | g.40394983C>A | CA507678659 | PRX | c.3369G>T (p.Leu1123=) c.2952G>T (p.Leu984=) c.3654G>T (p.Leu1218=) c.3244G>T c.3230G>T c.3331G>T c.3256G>T c.*3574G>T (n.*3574G>T) c.3267G>T (p.Leu1089=) | |
| 19 | g.40394983C>G | CA507678663 | PRX | c.3369G>C (p.Leu1123=) c.2952G>C (p.Leu984=) c.3654G>C (p.Leu1218=) c.3244G>C c.3230G>C c.3331G>C c.3256G>C c.*3574G>C (n.*3574G>C) c.3267G>C (p.Leu1089=) | gnomAD v4 |
| 19 | g.40394983C>T | CA507678661 | PRX | c.3369G>A (p.Leu1123=) c.2952G>A (p.Leu984=) c.3654G>A (p.Leu1218=) c.3244G>A c.3230G>A c.3331G>A c.3256G>A c.*3574G>A (n.*3574G>A) c.3267G>A (p.Leu1089=) | dbSNP gnomAD v4 |
| 19 | g.40394984A>C | CA405894046 | PRX | c.3368T>G (p.Leu1123Arg) c.2951T>G (p.Leu984Arg) c.3653T>G (p.Leu1218Arg) c.3243T>G c.3229T>G c.3330T>G c.3255T>G c.*3573T>G (n.*3573T>G) c.3266T>G (p.Leu1089Arg) | |
| 19 | g.40394984A>G | CA405894043 | PRX | c.3368T>C (p.Leu1123Pro) c.2951T>C (p.Leu984Pro) c.3653T>C (p.Leu1218Pro) c.3243T>C c.3229T>C c.3330T>C c.3255T>C c.*3573T>C (n.*3573T>C) c.3266T>C (p.Leu1089Pro) | |
| 19 | g.40394984A>T | CA405894045 | PRX | c.3368T>A (p.Leu1123Gln) c.2951T>A (p.Leu984Gln) c.3653T>A (p.Leu1218Gln) c.3243T>A c.3229T>A c.3330T>A c.3255T>A c.*3573T>A (n.*3573T>A) c.3266T>A (p.Leu1089Gln) | |
| 19 | g.40394985G>A | CA507678667 | PRX | c.3367C>T (p.Leu1123=) c.2950C>T (p.Leu984=) c.3652C>T (p.Leu1218=) c.3242C>T c.3228C>T c.3329C>T c.3254C>T c.*3572C>T (n.*3572C>T) c.3265C>T (p.Leu1089=) | |
| 19 | g.40394985G>C | CA405894048 | PRX | c.3367C>G (p.Leu1123Val) c.2950C>G (p.Leu984Val) c.3652C>G (p.Leu1218Val) c.3242C>G c.3228C>G c.3329C>G c.3254C>G c.*3572C>G (n.*3572C>G) c.3265C>G (p.Leu1089Val) | |
| 19 | g.40394985G>T | CA405894050 | PRX | c.3367C>A (p.Leu1123Met) c.2950C>A (p.Leu984Met) c.3652C>A (p.Leu1218Met) c.3242C>A c.3228C>A c.3329C>A c.3254C>A c.*3572C>A (n.*3572C>A) c.3265C>A (p.Leu1089Met) | |
| 19 | g.40394986C>A | CA405894054 | PRX | c.3366G>T (p.Gln1122His) c.2949G>T (p.Gln983His) c.3651G>T (p.Gln1217His) c.3241G>T c.3227G>T c.3328G>T c.3253G>T c.*3571G>T (n.*3571G>T) c.3264G>T (p.Gln1088His) | |
| 19 | g.40394986C= | CA2335960944 | PRX | c.3366G= (p.Gln1122=) c.2949G= (p.Gln983=) c.3651G= (p.Gln1217=) c.3241G= c.3227G= c.3328G= c.3253G= c.*3571G= (n.*3571G=) c.3264G= (p.Gln1088=) | |
| 19 | g.40394986C>G | CA405894056 | PRX | c.3366G>C (p.Gln1122His) c.2949G>C (p.Gln983His) c.3651G>C (p.Gln1217His) c.3241G>C c.3227G>C c.3328G>C c.3253G>C c.*3571G>C (n.*3571G>C) c.3264G>C (p.Gln1088His) | |
| 19 | g.40394986C>T | CA16609002 | PRX | c.3366G>A (p.Gln1122=) c.2949G>A (p.Gln983=) c.3651G>A (p.Gln1217=) c.3241G>A c.3227G>A c.3328G>A c.3253G>A c.*3571G>A (n.*3571G>A) c.3264G>A (p.Gln1088=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394987T>A | CA405894059 | PRX | c.3365A>T (p.Gln1122Leu) c.2948A>T (p.Gln983Leu) c.3650A>T (p.Gln1217Leu) c.3240A>T c.3226A>T c.3327A>T c.3252A>T c.*3570A>T (n.*3570A>T) c.3263A>T (p.Gln1088Leu) | |
| 19 | g.40394987T>C | CA405894060 | PRX | c.3365A>G (p.Gln1122Arg) c.2948A>G (p.Gln983Arg) c.3650A>G (p.Gln1217Arg) c.3240A>G c.3226A>G c.3327A>G c.3252A>G c.*3570A>G (n.*3570A>G) c.3263A>G (p.Gln1088Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40394987T>G | CA405894062 | PRX | c.3365A>C (p.Gln1122Pro) c.2948A>C (p.Gln983Pro) c.3650A>C (p.Gln1217Pro) c.3240A>C c.3226A>C c.3327A>C c.3252A>C c.*3570A>C (n.*3570A>C) c.3263A>C (p.Gln1088Pro) | |
| 19 | g.40394987T= | CA2335960945 | PRX | c.3365A= (p.Gln1122=) c.2948A= (p.Gln983=) c.3650A= (p.Gln1217=) c.3240A= c.3226A= c.3327A= c.3252A= c.*3570A= (n.*3570A=) c.3263A= (p.Gln1088=) | |
| 19 | g.40394988G>A | CA405894065 | PRX | c.3364C>T (p.Gln1122Ter) c.2947C>T (p.Gln983Ter) c.3649C>T (p.Gln1217Ter) c.3239C>T c.3225C>T c.3326C>T c.3251C>T c.*3569C>T (n.*3569C>T) c.3262C>T (p.Gln1088Ter) | gnomAD v4 |
| 19 | g.40394988G>C | CA405894067 | PRX | c.3364C>G (p.Gln1122Glu) c.2947C>G (p.Gln983Glu) c.3649C>G (p.Gln1217Glu) c.3239C>G c.3225C>G c.3326C>G c.3251C>G c.*3569C>G (n.*3569C>G) c.3262C>G (p.Gln1088Glu) | |
| 19 | g.40394988G>T | CA405894069 | PRX | c.3364C>A (p.Gln1122Lys) c.2947C>A (p.Gln983Lys) c.3649C>A (p.Gln1217Lys) c.3239C>A c.3225C>A c.3326C>A c.3251C>A c.*3569C>A (n.*3569C>A) c.3262C>A (p.Gln1088Lys) | gnomAD v4 |
| 19 | g.40394989C>A | CA405894077 | PRX | c.3363G>T (p.Met1121Ile) c.2946G>T (p.Met982Ile) c.3648G>T (p.Met1216Ile) c.3238G>T c.3224G>T c.3325G>T c.3250G>T c.*3568G>T (n.*3568G>T) c.3261G>T (p.Met1087Ile) | gnomAD v4 |
| 19 | g.40394989C= | CA2335960946 | PRX | c.3363G= (p.Met1121=) c.2946G= (p.Met982=) c.3648G= (p.Met1216=) c.3238G= c.3224G= c.3325G= c.3250G= c.*3568G= (n.*3568G=) c.3261G= (p.Met1087=) | |
| 19 | g.40394989C>G | CA405894074 | PRX | c.3363G>C (p.Met1121Ile) c.2946G>C (p.Met982Ile) c.3648G>C (p.Met1216Ile) c.3238G>C c.3224G>C c.3325G>C c.3250G>C c.*3568G>C (n.*3568G>C) c.3261G>C (p.Met1087Ile) | |
| 19 | g.40394989C>T | CA405894073 | PRX | c.3363G>A (p.Met1121Ile) c.2946G>A (p.Met982Ile) c.3648G>A (p.Met1216Ile) c.3238G>A c.3224G>A c.3325G>A c.3250G>A c.*3568G>A (n.*3568G>A) c.3261G>A (p.Met1087Ile) | dbSNP gnomAD v2 |
| 19 | g.40394990A>C | CA405894081 | PRX | c.3362T>G (p.Met1121Arg) c.2945T>G (p.Met982Arg) c.3647T>G (p.Met1216Arg) c.3237T>G c.3223T>G c.3324T>G c.3249T>G c.*3567T>G (n.*3567T>G) c.3260T>G (p.Met1087Arg) | |
| 19 | g.40394990A>G | CA405894083 | PRX | c.3362T>C (p.Met1121Thr) c.2945T>C (p.Met982Thr) c.3647T>C (p.Met1216Thr) c.3237T>C c.3223T>C c.3324T>C c.3249T>C c.*3567T>C (n.*3567T>C) c.3260T>C (p.Met1087Thr) | |
| 19 | g.40394990A>T | CA405894085 | PRX | c.3362T>A (p.Met1121Lys) c.2945T>A (p.Met982Lys) c.3647T>A (p.Met1216Lys) c.3237T>A c.3223T>A c.3324T>A c.3249T>A c.*3567T>A (n.*3567T>A) c.3260T>A (p.Met1087Lys) | |
| 19 | g.40394991T>A | CA405894088 | PRX | c.3361A>T (p.Met1121Leu) c.2944A>T (p.Met982Leu) c.3646A>T (p.Met1216Leu) c.3236A>T c.3222A>T c.3323A>T c.3248A>T c.*3566A>T (n.*3566A>T) c.3259A>T (p.Met1087Leu) | |
| 19 | g.40394991T>C | CA405894089 | PRX | c.3361A>G (p.Met1121Val) c.2944A>G (p.Met982Val) c.3646A>G (p.Met1216Val) c.3236A>G c.3222A>G c.3323A>G c.3248A>G c.*3566A>G (n.*3566A>G) c.3259A>G (p.Met1087Val) | |
| 19 | g.40394991T>G | CA405894090 | PRX | c.3361A>C (p.Met1121Leu) c.2944A>C (p.Met982Leu) c.3646A>C (p.Met1216Leu) c.3236A>C c.3222A>C c.3323A>C c.3248A>C c.*3566A>C (n.*3566A>C) c.3259A>C (p.Met1087Leu) | |
| 19 | g.40394992T>A | CA507678686 | PRX | c.3360A>T (p.Gly1120=) c.2943A>T (p.Gly981=) c.3645A>T (p.Gly1215=) c.3235A>T c.3221A>T c.3322A>T c.3247A>T c.*3565A>T (n.*3565A>T) c.3258A>T (p.Gly1086=) | |
| 19 | g.40394992T>C | CA507678687 | PRX | c.3360A>G (p.Gly1120=) c.2943A>G (p.Gly981=) c.3645A>G (p.Gly1215=) c.3235A>G c.3221A>G c.3322A>G c.3247A>G c.*3565A>G (n.*3565A>G) c.3258A>G (p.Gly1086=) | |
| 19 | g.40394992T>G | CA507678689 | PRX | c.3360A>C (p.Gly1120=) c.2943A>C (p.Gly981=) c.3645A>C (p.Gly1215=) c.3235A>C c.3221A>C c.3322A>C c.3247A>C c.*3565A>C (n.*3565A>C) c.3258A>C (p.Gly1086=) | |
| 19 | g.40394993C>A | CA405894094 | PRX | c.3359G>T (p.Gly1120Val) c.2942G>T (p.Gly981Val) c.3644G>T (p.Gly1215Val) c.3234G>T c.3220G>T c.3321G>T c.3246G>T c.*3564G>T (n.*3564G>T) c.3257G>T (p.Gly1086Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394993C= | CA2335960947 | PRX | c.3359G= (p.Gly1120=) c.2942G= (p.Gly981=) c.3644G= (p.Gly1215=) c.3234G= c.3220G= c.3321G= c.3246G= c.*3564G= (n.*3564G=) c.3257G= (p.Gly1086=) | |
| 19 | g.40394993C>G | CA405894096 | PRX | c.3359G>C (p.Gly1120Ala) c.2942G>C (p.Gly981Ala) c.3644G>C (p.Gly1215Ala) c.3234G>C c.3220G>C c.3321G>C c.3246G>C c.*3564G>C (n.*3564G>C) c.3257G>C (p.Gly1086Ala) | |
| 19 | g.40394993C>T | CA405894098 | PRX | c.3359G>A (p.Gly1120Glu) c.2942G>A (p.Gly981Glu) c.3644G>A (p.Gly1215Glu) c.3234G>A c.3220G>A c.3321G>A c.3246G>A c.*3564G>A (n.*3564G>A) c.3257G>A (p.Gly1086Glu) | dbSNP COSMIC |
| 19 | g.40394994C>A | CA405894101 | PRX | c.3358G>T (p.Gly1120Ter) c.2941G>T (p.Gly981Ter) c.3643G>T (p.Gly1215Ter) c.3233G>T c.3219G>T c.3320G>T c.3245G>T c.*3563G>T (n.*3563G>T) c.3256G>T (p.Gly1086Ter) | |
| 19 | g.40394994C>G | CA405894103 | PRX | c.3358G>C (p.Gly1120Arg) c.2941G>C (p.Gly981Arg) c.3643G>C (p.Gly1215Arg) c.3233G>C c.3219G>C c.3320G>C c.3245G>C c.*3563G>C (n.*3563G>C) c.3256G>C (p.Gly1086Arg) | gnomAD v4 |
| 19 | g.40394994C>T | CA405894105 | PRX | c.3358G>A (p.Gly1120Arg) c.2941G>A (p.Gly981Arg) c.3643G>A (p.Gly1215Arg) c.3233G>A c.3219G>A c.3320G>A c.3245G>A c.*3563G>A (n.*3563G>A) c.3256G>A (p.Gly1086Arg) | |
| 19 | g.40394995A>C | CA405894109 | PRX | c.3357T>G (p.Ser1119Arg) c.2940T>G (p.Ser980Arg) c.3642T>G (p.Ser1214Arg) c.3232T>G c.3218T>G c.3319T>G c.3244T>G c.*3562T>G (n.*3562T>G) c.3255T>G (p.Ser1085Arg) | |
| 19 | g.40394995A>G | CA507678701 | PRX | c.3357T>C (p.Ser1119=) c.2940T>C (p.Ser980=) c.3642T>C (p.Ser1214=) c.3232T>C c.3218T>C c.3319T>C c.3244T>C c.*3562T>C (n.*3562T>C) c.3255T>C (p.Ser1085=) | |
| 19 | g.40394995A>T | CA405894108 | PRX | c.3357T>A (p.Ser1119Arg) c.2940T>A (p.Ser980Arg) c.3642T>A (p.Ser1214Arg) c.3232T>A c.3218T>A c.3319T>A c.3244T>A c.*3562T>A (n.*3562T>A) c.3255T>A (p.Ser1085Arg) | |
| 19 | g.40394995_40395066delinsACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT | CA2335960948 | PRX | c.3286_3357delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT (p.Ile1096=) c.2869_2940delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT (p.Ile957=) c.3571_3642delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT (p.Ile1191=) c.3161_3232delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT c.3147_3218delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT c.3248_3319delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT c.3173_3244delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT c.*3491_*3562delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT (n.*3491_*3562delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT) c.3184_3255delinsATCCCCGAGGTGGAGCTGGTCACGCTGGGCGCCCAGGAGGAAGGGAGGGCAGAGGGGGCTGTGGCCGTCAGT (p.Ile1062=) | |
| 19 | g.40394996C>A | CA405894112 | PRX | c.3356G>T (p.Ser1119Ile) c.2939G>T (p.Ser980Ile) c.3641G>T (p.Ser1214Ile) c.3231G>T c.3217G>T c.3318G>T c.3243G>T c.*3561G>T (n.*3561G>T) c.3254G>T (p.Ser1085Ile) | |
| 19 | g.40394996C>G | CA405894113 | PRX | c.3356G>C (p.Ser1119Thr) c.2939G>C (p.Ser980Thr) c.3641G>C (p.Ser1214Thr) c.3231G>C c.3217G>C c.3318G>C c.3243G>C c.*3561G>C (n.*3561G>C) c.3254G>C (p.Ser1085Thr) | dbSNP |
| 19 | g.40394996C>T | CA405894118 | PRX | c.3356G>A (p.Ser1119Asn) c.2939G>A (p.Ser980Asn) c.3641G>A (p.Ser1214Asn) c.3231G>A c.3217G>A c.3318G>A c.3243G>A c.*3561G>A (n.*3561G>A) c.3254G>A (p.Ser1085Asn) | |
| 19 | g.40394996_40394997del | CA2585127053 | PRX | c.3355_3356del (p.Ser1119TrpfsTer18) c.2938_2939del (p.Ser980TrpfsTer18) c.3640_3641del (p.Ser1214TrpfsTer18) c.3230_3231del c.3216_3217del c.3317_3318del c.3242_3243del c.*3560_*3561del (n.*3560_*3561del) c.3253_3254del (p.Ser1085TrpfsTer18) | gnomAD v4 |
| 19 | g.40394998_40395068del | CA507678707 | PRX | c.3286_3356del (p.Ile1096TrpfsTer18) c.2869_2939del (p.Ile957TrpfsTer18) c.3571_3641del (p.Ile1191TrpfsTer18) c.3161_3231del c.3147_3217del c.3248_3318del c.3173_3243del c.*3491_*3561del (n.*3491_*3561del) c.3184_3254del (p.Ile1062TrpfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40394997T>A | CA405894123 | PRX | c.3355A>T (p.Ser1119Cys) c.2938A>T (p.Ser980Cys) c.3640A>T (p.Ser1214Cys) c.3230A>T c.3216A>T c.3317A>T c.3242A>T c.*3560A>T (n.*3560A>T) c.3253A>T (p.Ser1085Cys) | gnomAD v4 |
| 19 | g.40394997T>C | CA405894125 | PRX | c.3355A>G (p.Ser1119Gly) c.2938A>G (p.Ser980Gly) c.3640A>G (p.Ser1214Gly) c.3230A>G c.3216A>G c.3317A>G c.3242A>G c.*3560A>G (n.*3560A>G) c.3253A>G (p.Ser1085Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40394997T>G | CA405894127 | PRX | c.3355A>C (p.Ser1119Arg) c.2938A>C (p.Ser980Arg) c.3640A>C (p.Ser1214Arg) c.3230A>C c.3216A>C c.3317A>C c.3242A>C c.*3560A>C (n.*3560A>C) c.3253A>C (p.Ser1085Arg) | gnomAD v4 |
| 19 | g.40394997T= | CA2335960949 | PRX | c.3355A= (p.Ser1119=) c.2938A= (p.Ser980=) c.3640A= (p.Ser1214=) c.3230A= c.3216A= c.3317A= c.3242A= c.*3560A= (n.*3560A=) c.3253A= (p.Ser1085=) | |
| 19 | g.40394998G>A | CA507678712 | PRX | c.3354C>T (p.Val1118=) c.2937C>T (p.Val979=) c.3639C>T (p.Val1213=) c.3229C>T c.3215C>T c.3316C>T c.3241C>T c.*3559C>T (n.*3559C>T) c.3252C>T (p.Val1084=) | |
| 19 | g.40394998G>C | CA507678715 | PRX | c.3354C>G (p.Val1118=) c.2937C>G (p.Val979=) c.3639C>G (p.Val1213=) c.3229C>G c.3215C>G c.3316C>G c.3241C>G c.*3559C>G (n.*3559C>G) c.3252C>G (p.Val1084=) | |
| 19 | g.40394998G>T | CA507678717 | PRX | c.3354C>A (p.Val1118=) c.2937C>A (p.Val979=) c.3639C>A (p.Val1213=) c.3229C>A c.3215C>A c.3316C>A c.3241C>A c.*3559C>A (n.*3559C>A) c.3252C>A (p.Val1084=) | |
| 19 | g.40394999A= | CA2335960950 | PRX | c.3353T= (p.Val1118=) c.2936T= (p.Val979=) c.3638T= (p.Val1213=) c.3228T= c.3214T= c.3315T= c.3240T= c.*3558T= (n.*3558T=) c.3251T= (p.Val1084=) | |
| 19 | g.40394999A>C | CA405894131 | PRX | c.3353T>G (p.Val1118Gly) c.2936T>G (p.Val979Gly) c.3638T>G (p.Val1213Gly) c.3228T>G c.3214T>G c.3315T>G c.3240T>G c.*3558T>G (n.*3558T>G) c.3251T>G (p.Val1084Gly) | dbSNP gnomAD v4 |
| 19 | g.40394999A>G | CA405894133 | PRX | c.3353T>C (p.Val1118Ala) c.2936T>C (p.Val979Ala) c.3638T>C (p.Val1213Ala) c.3228T>C c.3214T>C c.3315T>C c.3240T>C c.*3558T>C (n.*3558T>C) c.3251T>C (p.Val1084Ala) | |
| 19 | g.40394999A>T | CA405894135 | PRX | c.3353T>A (p.Val1118Asp) c.2936T>A (p.Val979Asp) c.3638T>A (p.Val1213Asp) c.3228T>A c.3214T>A c.3315T>A c.3240T>A c.*3558T>A (n.*3558T>A) c.3251T>A (p.Val1084Asp) | |
| 19 | g.40395000C>A | CA349458 | PRX | c.3352G>T (p.Val1118Phe) c.2935G>T (p.Val979Phe) c.3637G>T (p.Val1213Phe) c.3227G>T c.3213G>T c.3314G>T c.3239G>T c.*3557G>T (n.*3557G>T) c.3250G>T (p.Val1084Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40395000C= | CA2335960951 | PRX | c.3352G= (p.Val1118=) c.2935G= (p.Val979=) c.3637G= (p.Val1213=) c.3227G= c.3213G= c.3314G= c.3239G= c.*3557G= (n.*3557G=) c.3250G= (p.Val1084=) | |
| 19 | g.40395000C>G | CA405894141 | PRX | c.3352G>C (p.Val1118Leu) c.2935G>C (p.Val979Leu) c.3637G>C (p.Val1213Leu) c.3227G>C c.3213G>C c.3314G>C c.3239G>C c.*3557G>C (n.*3557G>C) c.3250G>C (p.Val1084Leu) | |
| 19 | g.40395000C>T | CA9443874 | PRX | c.3352G>A (p.Val1118Ile) c.2935G>A (p.Val979Ile) c.3637G>A (p.Val1213Ile) c.3227G>A c.3213G>A c.3314G>A c.3239G>A c.*3557G>A (n.*3557G>A) c.3250G>A (p.Val1084Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40395000_40395001delinsTA | CA2499225485 | PRX | c.3351_3352delinsTA (p.Val1118Ile) c.2934_2935delinsTA (p.Val979Ile) c.3636_3637delinsTA (p.Val1213Ile) c.3226_3227delinsTA c.3212_3213delinsTA c.3313_3314delinsTA c.3238_3239delinsTA c.*3556_*3557delinsTA (n.*3556_*3557delinsTA) c.3249_3250delinsTA (p.Val1084Ile) | ClinVar dbSNP |
| 19 | g.40395001G>A | CA9443875 | PRX | c.3351C>T (p.Ala1117=) c.2934C>T (p.Ala978=) c.3636C>T (p.Ala1212=) c.3226C>T c.3212C>T c.3313C>T c.3238C>T c.*3556C>T (n.*3556C>T) c.3249C>T (p.Ala1083=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40395001G>C | CA507678737 | PRX | c.3351C>G (p.Ala1117=) c.2934C>G (p.Ala978=) c.3636C>G (p.Ala1212=) c.3226C>G c.3212C>G c.3313C>G c.3238C>G c.*3556C>G (n.*3556C>G) c.3249C>G (p.Ala1083=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40395001G= | CA2335960952 | PRX | c.3351C= (p.Ala1117=) c.2934C= (p.Ala978=) c.3636C= (p.Ala1212=) c.3226C= c.3212C= c.3313C= c.3238C= c.*3556C= (n.*3556C=) c.3249C= (p.Ala1083=) | |
| 19 | g.40395001G>T | CA507678738 | PRX | c.3351C>A (p.Ala1117=) c.2934C>A (p.Ala978=) c.3636C>A (p.Ala1212=) c.3226C>A c.3212C>A c.3313C>A c.3238C>A c.*3556C>A (n.*3556C>A) c.3249C>A (p.Ala1083=) | gnomAD v4 |
| 19 | g.40395002G>A | CA405894149 | PRX | c.3350C>T (p.Ala1117Val) c.2933C>T (p.Ala978Val) c.3635C>T (p.Ala1212Val) c.3225C>T c.3211C>T c.3312C>T c.3237C>T c.*3555C>T (n.*3555C>T) c.3248C>T (p.Ala1083Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.40395002G>C | CA405894151 | PRX | c.3350C>G (p.Ala1117Gly) c.2933C>G (p.Ala978Gly) c.3635C>G (p.Ala1212Gly) c.3225C>G c.3211C>G c.3312C>G c.3237C>G c.*3555C>G (n.*3555C>G) c.3248C>G (p.Ala1083Gly) | |
| 19 | g.40395002G= | CA2335960953 | PRX | c.3350C= (p.Ala1117=) c.2933C= (p.Ala978=) c.3635C= (p.Ala1212=) c.3225C= c.3211C= c.3312C= c.3237C= c.*3555C= (n.*3555C=) c.3248C= (p.Ala1083=) | |
| 19 | g.40395002G>T | CA405894146 | PRX | c.3350C>A (p.Ala1117Asp) c.2933C>A (p.Ala978Asp) c.3635C>A (p.Ala1212Asp) c.3225C>A c.3211C>A c.3312C>A c.3237C>A c.*3555C>A (n.*3555C>A) c.3248C>A (p.Ala1083Asp) | gnomAD v4 |
| 19 | g.40395003C>A | CA405894158 | PRX | c.3349G>T (p.Ala1117Ser) c.2932G>T (p.Ala978Ser) c.3634G>T (p.Ala1212Ser) c.3224G>T c.3210G>T c.3311G>T c.3236G>T c.*3554G>T (n.*3554G>T) c.3247G>T (p.Ala1083Ser) | |
| 19 | g.40395003C= | CA2335960954 | PRX | c.3349G= (p.Ala1117=) c.2932G= (p.Ala978=) c.3634G= (p.Ala1212=) c.3224G= c.3210G= c.3311G= c.3236G= c.*3554G= (n.*3554G=) c.3247G= (p.Ala1083=) | |
| 19 | g.40395003C>G | CA405894154 | PRX | c.3349G>C (p.Ala1117Pro) c.2932G>C (p.Ala978Pro) c.3634G>C (p.Ala1212Pro) c.3224G>C c.3210G>C c.3311G>C c.3236G>C c.*3554G>C (n.*3554G>C) c.3247G>C (p.Ala1083Pro) | |
| 19 | g.40395003C>T | CA405894156 | PRX | c.3349G>A (p.Ala1117Thr) c.2932G>A (p.Ala978Thr) c.3634G>A (p.Ala1212Thr) c.3224G>A c.3210G>A c.3311G>A c.3236G>A c.*3554G>A (n.*3554G>A) c.3247G>A (p.Ala1083Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40395004C>A | CA507678746 | PRX | c.3348G>T (p.Val1116=) c.2931G>T (p.Val977=) c.3633G>T (p.Val1211=) c.3223G>T c.3209G>T c.3310G>T c.3235G>T c.*3553G>T (n.*3553G>T) c.3246G>T (p.Val1082=) | gnomAD v4 |
| 19 | g.40395004C= | CA2335960955 | PRX | c.3348G= (p.Val1116=) c.2931G= (p.Val977=) c.3633G= (p.Val1211=) c.3223G= c.3209G= c.3310G= c.3235G= c.*3553G= (n.*3553G=) c.3246G= (p.Val1082=) | |
| 19 | g.40395004C>G | CA507678747 | PRX | c.3348G>C (p.Val1116=) c.2931G>C (p.Val977=) c.3633G>C (p.Val1211=) c.3223G>C c.3209G>C c.3310G>C c.3235G>C c.*3553G>C (n.*3553G>C) c.3246G>C (p.Val1082=) | |
| 19 | g.40395004C>T | CA507678748 | PRX | c.3348G>A (p.Val1116=) c.2931G>A (p.Val977=) c.3633G>A (p.Val1211=) c.3223G>A c.3209G>A c.3310G>A c.3235G>A c.*3553G>A (n.*3553G>A) c.3246G>A (p.Val1082=) | dbSNP |
| 19 | g.40395005A>C | CA405894162 | PRX | c.3347T>G (p.Val1116Gly) c.2930T>G (p.Val977Gly) c.3632T>G (p.Val1211Gly) c.3222T>G c.3208T>G c.3309T>G c.3234T>G c.*3552T>G (n.*3552T>G) c.3245T>G (p.Val1082Gly) | |
| 19 | g.40395005A>G | CA405894163 | PRX | c.3347T>C (p.Val1116Ala) c.2930T>C (p.Val977Ala) c.3632T>C (p.Val1211Ala) c.3222T>C c.3208T>C c.3309T>C c.3234T>C c.*3552T>C (n.*3552T>C) c.3245T>C (p.Val1082Ala) | gnomAD v4 |
| 19 | g.40395005A>T | CA405894165 | PRX | c.3347T>A (p.Val1116Glu) c.2930T>A (p.Val977Glu) c.3632T>A (p.Val1211Glu) c.3222T>A c.3208T>A c.3309T>A c.3234T>A c.*3552T>A (n.*3552T>A) c.3245T>A (p.Val1082Glu) | |
| 19 | g.40395006C>A | CA9443876 | PRX | c.3346G>T (p.Val1116Leu) c.2929G>T (p.Val977Leu) c.3631G>T (p.Val1211Leu) c.3221G>T c.3207G>T c.3308G>T c.3233G>T c.*3551G>T (n.*3551G>T) c.3244G>T (p.Val1082Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40395006C= | CA2335960956 | PRX | c.3346G= (p.Val1116=) c.2929G= (p.Val977=) c.3631G= (p.Val1211=) c.3221G= c.3207G= c.3308G= c.3233G= c.*3551G= (n.*3551G=) c.3244G= (p.Val1082=) | |
| 19 | g.40395006C>G | CA405894170 | PRX | c.3346G>C (p.Val1116Leu) c.2929G>C (p.Val977Leu) c.3631G>C (p.Val1211Leu) c.3221G>C c.3207G>C c.3308G>C c.3233G>C c.*3551G>C (n.*3551G>C) c.3244G>C (p.Val1082Leu) | |
| 19 | g.40395006C>T | CA405894167 | PRX | c.3346G>A (p.Val1116Met) c.2929G>A (p.Val977Met) c.3631G>A (p.Val1211Met) c.3221G>A c.3207G>A c.3308G>A c.3233G>A c.*3551G>A (n.*3551G>A) c.3244G>A (p.Val1082Met) | gnomAD v4 |
| 19 | g.40395007A>C | CA507678762 | PRX | c.3345T>G (p.Ala1115=) c.2928T>G (p.Ala976=) c.3630T>G (p.Ala1210=) c.3220T>G c.3206T>G c.3307T>G c.3232T>G c.*3550T>G (n.*3550T>G) c.3243T>G (p.Ala1081=) | |
| 19 | g.40395007A>G | CA507678763 | PRX | c.3345T>C (p.Ala1115=) c.2928T>C (p.Ala976=) c.3630T>C (p.Ala1210=) c.3220T>C c.3206T>C c.3307T>C c.3232T>C c.*3550T>C (n.*3550T>C) c.3243T>C (p.Ala1081=) | |
| 19 | g.40395007A>T | CA507678765 | PRX | c.3345T>A (p.Ala1115=) c.2928T>A (p.Ala976=) c.3630T>A (p.Ala1210=) c.3220T>A c.3206T>A c.3307T>A c.3232T>A c.*3550T>A (n.*3550T>A) c.3243T>A (p.Ala1081=) | |
| 19 | g.40395008G>A | CA405894173 | PRX | c.3344C>T (p.Ala1115Val) c.2927C>T (p.Ala976Val) c.3629C>T (p.Ala1210Val) c.3219C>T c.3205C>T c.3306C>T c.3231C>T c.*3549C>T (n.*3549C>T) c.3242C>T (p.Ala1081Val) | gnomAD v4 |
| 19 | g.40395008G>C | CA405894175 | PRX | c.3344C>G (p.Ala1115Gly) c.2927C>G (p.Ala976Gly) c.3629C>G (p.Ala1210Gly) c.3219C>G c.3205C>G c.3306C>G c.3231C>G c.*3549C>G (n.*3549C>G) c.3242C>G (p.Ala1081Gly) | |
| 19 | g.40395008G>T | CA405894176 | PRX | c.3344C>A (p.Ala1115Asp) c.2927C>A (p.Ala976Asp) c.3629C>A (p.Ala1210Asp) c.3219C>A c.3205C>A c.3306C>A c.3231C>A c.*3549C>A (n.*3549C>A) c.3242C>A (p.Ala1081Asp) | ClinVar gnomAD v4 |
| 19 | g.40395008_40395009delinsGC | CA2335960957 | PRX | c.3343_3344delinsGC (p.Ala1115=) c.2926_2927delinsGC (p.Ala976=) c.3628_3629delinsGC (p.Ala1210=) c.3218_3219delinsGC c.3204_3205delinsGC c.3305_3306delinsGC c.3230_3231delinsGC c.*3548_*3549delinsGC (n.*3548_*3549delinsGC) c.3241_3242delinsGC (p.Ala1081=) | |
| 19 | g.40395009C>A | CA405894180 | PRX | c.3343G>T (p.Ala1115Ser) c.2926G>T (p.Ala976Ser) c.3628G>T (p.Ala1210Ser) c.3218G>T c.3204G>T c.3305G>T c.3230G>T c.*3548G>T (n.*3548G>T) c.3241G>T (p.Ala1081Ser) | |
| 19 | g.40395009C= | CA2335960958 | PRX | c.3343G= (p.Ala1115=) c.2926G= (p.Ala976=) c.3628G= (p.Ala1210=) c.3218G= c.3204G= c.3305G= c.3230G= c.*3548G= (n.*3548G=) c.3241G= (p.Ala1081=) | |
| 19 | g.40395009C>G | CA405894182 | PRX | c.3343G>C (p.Ala1115Pro) c.2926G>C (p.Ala976Pro) c.3628G>C (p.Ala1210Pro) c.3218G>C c.3204G>C c.3305G>C c.3230G>C c.*3548G>C (n.*3548G>C) c.3241G>C (p.Ala1081Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40395009C>T | CA405894184 | PRX | c.3343G>A (p.Ala1115Thr) c.2926G>A (p.Ala976Thr) c.3628G>A (p.Ala1210Thr) c.3218G>A c.3204G>A c.3305G>A c.3230G>A c.*3548G>A (n.*3548G>A) c.3241G>A (p.Ala1081Thr) | gnomAD v4 |
| 19 | g.40395013del | CA16621740 | PRX | c.3343del (p.Ala1115LeufsTer12) c.2926del (p.Ala976LeufsTer12) c.3628del (p.Ala1210LeufsTer12) c.3218del c.3204del c.3305del c.3230del c.*3548del (n.*3548del) c.3241del (p.Ala1081LeufsTer12) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.40395010C>A | CA507678772 | PRX | c.3342G>T (p.Gly1114=) c.2925G>T (p.Gly975=) c.3627G>T (p.Gly1209=) c.3217G>T c.3203G>T c.3304G>T c.3229G>T c.*3547G>T (n.*3547G>T) c.3240G>T (p.Gly1080=) | |
| 19 | g.40395010C>G | CA507678774 | PRX | c.3342G>C (p.Gly1114=) c.2925G>C (p.Gly975=) c.3627G>C (p.Gly1209=) c.3217G>C c.3203G>C c.3304G>C c.3229G>C c.*3547G>C (n.*3547G>C) c.3240G>C (p.Gly1080=) | |
| 19 | g.40395010C>T | CA507678775 | PRX | c.3342G>A (p.Gly1114=) c.2925G>A (p.Gly975=) c.3627G>A (p.Gly1209=) c.3217G>A c.3203G>A c.3304G>A c.3229G>A c.*3547G>A (n.*3547G>A) c.3240G>A (p.Gly1080=) | |
| 19 | g.40395011C>A | CA9443877 | PRX | c.3341G>T (p.Gly1114Val) c.2924G>T (p.Gly975Val) c.3626G>T (p.Gly1209Val) c.3216G>T c.3202G>T c.3303G>T c.3228G>T c.*3546G>T (n.*3546G>T) c.3239G>T (p.Gly1080Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.40395011C= | CA2335960959 | PRX | c.3341G= (p.Gly1114=) c.2924G= (p.Gly975=) c.3626G= (p.Gly1209=) c.3216G= c.3202G= c.3303G= c.3228G= c.*3546G= (n.*3546G=) c.3239G= (p.Gly1080=) | |
| 19 | g.40395011C>G | CA405894190 | PRX | c.3341G>C (p.Gly1114Ala) c.2924G>C (p.Gly975Ala) c.3626G>C (p.Gly1209Ala) c.3216G>C c.3202G>C c.3303G>C c.3228G>C c.*3546G>C (n.*3546G>C) c.3239G>C (p.Gly1080Ala) | |
| 19 | g.40395011C>T | CA405894187 | PRX | c.3341G>A (p.Gly1114Glu) c.2924G>A (p.Gly975Glu) c.3626G>A (p.Gly1209Glu) c.3216G>A c.3202G>A c.3303G>A c.3228G>A c.*3546G>A (n.*3546G>A) c.3239G>A (p.Gly1080Glu) | gnomAD v4 |
| 19 | g.40395012C>A | CA405894192 | PRX | c.3340G>T (p.Gly1114Trp) c.2923G>T (p.Gly975Trp) c.3625G>T (p.Gly1209Trp) c.3215G>T c.3201G>T c.3302G>T c.3227G>T c.*3545G>T (n.*3545G>T) c.3238G>T (p.Gly1080Trp) | COSMIC |
| 19 | g.40395012C= | CA2335960960 | PRX | c.3340G= (p.Gly1114=) c.2923G= (p.Gly975=) c.3625G= (p.Gly1209=) c.3215G= c.3201G= c.3302G= c.3227G= c.*3545G= (n.*3545G=) c.3238G= (p.Gly1080=) | |
| 19 | g.40395012C>G | CA405894194 | PRX | c.3340G>C (p.Gly1114Arg) c.2923G>C (p.Gly975Arg) c.3625G>C (p.Gly1209Arg) c.3215G>C c.3201G>C c.3302G>C c.3227G>C c.*3545G>C (n.*3545G>C) c.3238G>C (p.Gly1080Arg) | dbSNP gnomAD v4 |
| 19 | g.40395012C>T | CA405894197 | PRX | c.3340G>A (p.Gly1114Arg) c.2923G>A (p.Gly975Arg) c.3625G>A (p.Gly1209Arg) c.3215G>A c.3201G>A c.3302G>A c.3227G>A c.*3545G>A (n.*3545G>A) c.3238G>A (p.Gly1080Arg) | |
| 19 | g.40395013C>A | CA405894199 | PRX | c.3339G>T (p.Glu1113Asp) c.2922G>T (p.Glu974Asp) c.3624G>T (p.Glu1208Asp) c.3214G>T c.3200G>T c.3301G>T c.3226G>T c.*3544G>T (n.*3544G>T) c.3237G>T (p.Glu1079Asp) | |
| 19 | g.40395013C>G | CA405894201 | PRX | c.3339G>C (p.Glu1113Asp) c.2922G>C (p.Glu974Asp) c.3624G>C (p.Glu1208Asp) c.3214G>C c.3200G>C c.3301G>C c.3226G>C c.*3544G>C (n.*3544G>C) c.3237G>C (p.Glu1079Asp) | |
| 19 | g.40395013C>T | CA507678781 | PRX | c.3339G>A (p.Glu1113=) c.2922G>A (p.Glu974=) c.3624G>A (p.Glu1208=) c.3214G>A c.3200G>A c.3301G>A c.3226G>A c.*3544G>A (n.*3544G>A) c.3237G>A (p.Glu1079=) | |
| 19 | g.40395014T>A | CA405894204 | PRX | c.3338A>T (p.Glu1113Val) c.2921A>T (p.Glu974Val) c.3623A>T (p.Glu1208Val) c.3213A>T c.3199A>T c.3300A>T c.3225A>T c.*3543A>T (n.*3543A>T) c.3236A>T (p.Glu1079Val) | |
| 19 | g.40395014T>C | CA405894206 | PRX | c.3338A>G (p.Glu1113Gly) c.2921A>G (p.Glu974Gly) c.3623A>G (p.Glu1208Gly) c.3213A>G c.3199A>G c.3300A>G c.3225A>G c.*3543A>G (n.*3543A>G) c.3236A>G (p.Glu1079Gly) | |
| 19 | g.40395014T>G | CA405894208 | PRX | c.3338A>C (p.Glu1113Ala) c.2921A>C (p.Glu974Ala) c.3623A>C (p.Glu1208Ala) c.3213A>C c.3199A>C c.3300A>C c.3225A>C c.*3543A>C (n.*3543A>C) c.3236A>C (p.Glu1079Ala) | |
| 19 | g.40395015C>A | CA405894211 | PRX | c.3337G>T (p.Glu1113Ter) c.2920G>T (p.Glu974Ter) c.3622G>T (p.Glu1208Ter) c.3212G>T c.3198G>T c.3299G>T c.3224G>T c.*3542G>T (n.*3542G>T) c.3235G>T (p.Glu1079Ter) | gnomAD v4 |
| 19 | g.40395015C>G | CA405894213 | PRX | c.3337G>C (p.Glu1113Gln) c.2920G>C (p.Glu974Gln) c.3622G>C (p.Glu1208Gln) c.3212G>C c.3198G>C c.3299G>C c.3224G>C c.*3542G>C (n.*3542G>C) c.3235G>C (p.Glu1079Gln) | gnomAD v4 |
| 19 | g.40395015C>T | CA405894215 | PRX | c.3337G>A (p.Glu1113Lys) c.2920G>A (p.Glu974Lys) c.3622G>A (p.Glu1208Lys) c.3212G>A c.3198G>A c.3299G>A c.3224G>A c.*3542G>A (n.*3542G>A) c.3235G>A (p.Glu1079Lys) | COSMIC |
| 19 | g.40395016T>A | CA507678798 | PRX | c.3336A>T (p.Ala1112=) c.2919A>T (p.Ala973=) c.3621A>T (p.Ala1207=) c.3211A>T c.3197A>T c.3298A>T c.3223A>T c.*3541A>T (n.*3541A>T) c.3234A>T (p.Ala1078=) | |
| 19 | g.40395016T>C | CA9443878 | PRX | c.3336A>G (p.Ala1112=) c.2919A>G (p.Ala973=) c.3621A>G (p.Ala1207=) c.3211A>G c.3197A>G c.3298A>G c.3223A>G c.*3541A>G (n.*3541A>G) c.3234A>G (p.Ala1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40395016T>G | CA507678797 | PRX | c.3336A>C (p.Ala1112=) c.2919A>C (p.Ala973=) c.3621A>C (p.Ala1207=) c.3211A>C c.3197A>C c.3298A>C c.3223A>C c.*3541A>C (n.*3541A>C) c.3234A>C (p.Ala1078=) | |
| 19 | g.40395016T= | CA2335960961 | PRX | c.3336A= (p.Ala1112=) c.2919A= (p.Ala973=) c.3621A= (p.Ala1207=) c.3211A= c.3197A= c.3298A= c.3223A= c.*3541A= (n.*3541A=) c.3234A= (p.Ala1078=) | |
| 19 | g.40395017G>A | CA405894224 | PRX | c.3335C>T (p.Ala1112Val) c.2918C>T (p.Ala973Val) c.3620C>T (p.Ala1207Val) c.3210C>T c.3196C>T c.3297C>T c.3222C>T c.*3540C>T (n.*3540C>T) c.3233C>T (p.Ala1078Val) | |
| 19 | g.40395017G>C | CA405894219 | PRX | c.3335C>G (p.Ala1112Gly) c.2918C>G (p.Ala973Gly) c.3620C>G (p.Ala1207Gly) c.3210C>G c.3196C>G c.3297C>G c.3222C>G c.*3540C>G (n.*3540C>G) c.3233C>G (p.Ala1078Gly) | |
| 19 | g.40395017G>T | CA405894222 | PRX | c.3335C>A (p.Ala1112Glu) c.2918C>A (p.Ala973Glu) c.3620C>A (p.Ala1207Glu) c.3210C>A c.3196C>A c.3297C>A c.3222C>A c.*3540C>A (n.*3540C>A) c.3233C>A (p.Ala1078Glu) | gnomAD v4 |
| 19 | g.40395018C>A | CA405894228 | PRX | c.3334G>T (p.Ala1112Ser) c.2917G>T (p.Ala973Ser) c.3619G>T (p.Ala1207Ser) c.3209G>T c.3195G>T c.3296G>T c.3221G>T c.*3539G>T (n.*3539G>T) c.3232G>T (p.Ala1078Ser) | |
| 19 | g.40395018C>G | CA405894230 | PRX | c.3334G>C (p.Ala1112Pro) c.2917G>C (p.Ala973Pro) c.3619G>C (p.Ala1207Pro) c.3209G>C c.3195G>C c.3296G>C c.3221G>C c.*3539G>C (n.*3539G>C) c.3232G>C (p.Ala1078Pro) | |
| 19 | g.40395018C>T | CA405894232 | PRX | c.3334G>A (p.Ala1112Thr) c.2917G>A (p.Ala973Thr) c.3619G>A (p.Ala1207Thr) c.3209G>A c.3195G>A c.3296G>A c.3221G>A c.*3539G>A (n.*3539G>A) c.3232G>A (p.Ala1078Thr) | gnomAD v4 COSMIC |
| 19 | g.40395018_40395026delinsCCCTCCCTT | CA2335960962 | PRX | c.3326_3334delinsAAGGGAGGG (p.Glu1109=) c.2909_2917delinsAAGGGAGGG (p.Glu970=) c.3611_3619delinsAAGGGAGGG (p.Glu1204=) c.3201_3209delinsAAGGGAGGG c.3187_3195delinsAAGGGAGGG c.3288_3296delinsAAGGGAGGG c.3213_3221delinsAAGGGAGGG c.*3531_*3539delinsAAGGGAGGG (n.*3531_*3539delinsAAGGGAGGG) c.3224_3232delinsAAGGGAGGG (p.Glu1075=) | |
| 19 | g.40395019C>A | CA405894235 | PRX | c.3333G>T (p.Arg1111Ser) c.2916G>T (p.Arg972Ser) c.3618G>T (p.Arg1206Ser) c.3208G>T c.3194G>T c.3295G>T c.3220G>T c.*3538G>T (n.*3538G>T) c.3231G>T (p.Arg1077Ser) | |
| 19 | g.40395019C>G | CA405894237 | PRX | c.3333G>C (p.Arg1111Ser) c.2916G>C (p.Arg972Ser) c.3618G>C (p.Arg1206Ser) c.3208G>C c.3194G>C c.3295G>C c.3220G>C c.*3538G>C (n.*3538G>C) c.3231G>C (p.Arg1077Ser) | |
| 19 | g.40395019C>T | CA507678809 | PRX | c.3333G>A (p.Arg1111=) c.2916G>A (p.Arg972=) c.3618G>A (p.Arg1206=) c.3208G>A c.3194G>A c.3295G>A c.3220G>A c.*3538G>A (n.*3538G>A) c.3231G>A (p.Arg1077=) | gnomAD v4 |
| 19 | g.40395024_40395031del | CA633466283 | PRX | c.3326_3333del (p.Glu1109GlyfsTer26) c.2909_2916del (p.Glu970GlyfsTer26) c.3611_3618del (p.Glu1204GlyfsTer26) c.3201_3208del c.3187_3194del c.3288_3295del c.3213_3220del c.*3531_*3538del (n.*3531_*3538del) c.3224_3231del (p.Glu1075GlyfsTer26) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40395020C>A | CA405894240 | PRX | c.3332G>T (p.Arg1111Met) c.2915G>T (p.Arg972Met) c.3617G>T (p.Arg1206Met) c.3207G>T c.3193G>T c.3294G>T c.3219G>T c.*3537G>T (n.*3537G>T) c.3230G>T (p.Arg1077Met) | dbSNP |
| 19 | g.40395020C= | CA2335960963 | PRX | c.3332G= (p.Arg1111=) c.2915G= (p.Arg972=) c.3617G= (p.Arg1206=) c.3207G= c.3193G= c.3294G= c.3219G= c.*3537G= (n.*3537G=) c.3230G= (p.Arg1077=) | |
| 19 | g.40395020C>G | CA405894242 | PRX | c.3332G>C (p.Arg1111Thr) c.2915G>C (p.Arg972Thr) c.3617G>C (p.Arg1206Thr) c.3207G>C c.3193G>C c.3294G>C c.3219G>C c.*3537G>C (n.*3537G>C) c.3230G>C (p.Arg1077Thr) | |
| 19 | g.40395020C>T | CA405894244 | PRX | c.3332G>A (p.Arg1111Lys) c.2915G>A (p.Arg972Lys) c.3617G>A (p.Arg1206Lys) c.3207G>A c.3193G>A c.3294G>A c.3219G>A c.*3537G>A (n.*3537G>A) c.3230G>A (p.Arg1077Lys) | gnomAD v4 |
| 19 | g.40395021T>A | CA405894247 | PRX | c.3331A>T (p.Arg1111Trp) c.2914A>T (p.Arg972Trp) c.3616A>T (p.Arg1206Trp) c.3206A>T c.3192A>T c.3293A>T c.3218A>T c.*3536A>T (n.*3536A>T) c.3229A>T (p.Arg1077Trp) | |
| 19 | g.40395021T>C | CA405894249 | PRX | c.3331A>G (p.Arg1111Gly) c.2914A>G (p.Arg972Gly) c.3616A>G (p.Arg1206Gly) c.3206A>G c.3192A>G c.3293A>G c.3218A>G c.*3536A>G (n.*3536A>G) c.3229A>G (p.Arg1077Gly) | |
| 19 | g.40395021T>G | CA507678816 | PRX | c.3331A>C (p.Arg1111=) c.2914A>C (p.Arg972=) c.3616A>C (p.Arg1206=) c.3206A>C c.3192A>C c.3293A>C c.3218A>C c.*3536A>C (n.*3536A>C) c.3229A>C (p.Arg1077=) | |
| 19 | g.40395022C>A | CA507678817 | PRX | c.3330G>T (p.Gly1110=) c.2913G>T (p.Gly971=) c.3615G>T (p.Gly1205=) c.3205G>T c.3191G>T c.3292G>T c.3217G>T c.*3535G>T (n.*3535G>T) c.3228G>T (p.Gly1076=) | |
| 19 | g.40395022C>G | CA507678818 | PRX | c.3330G>C (p.Gly1110=) c.2913G>C (p.Gly971=) c.3615G>C (p.Gly1205=) c.3205G>C c.3191G>C c.3292G>C c.3217G>C c.*3535G>C (n.*3535G>C) c.3228G>C (p.Gly1076=) | |
| 19 | g.40395022C>T | CA507678819 | PRX | c.3330G>A (p.Gly1110=) c.2913G>A (p.Gly971=) c.3615G>A (p.Gly1205=) c.3205G>A c.3191G>A c.3292G>A c.3217G>A c.*3535G>A (n.*3535G>A) c.3228G>A (p.Gly1076=) | gnomAD v4 |