| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47848771G>A | CA352591980 | DHX30 | c.2723G>A (p.Arg908Gln) c.2639G>A (p.Arg880Gln) c.*2623G>A (n.*2623G>A) c.2807G>A (p.Arg936Gln) n.840G>A c.2606G>A (p.Arg869Gln) c.2627G>A (p.Arg876Gln) c.2936G>A (p.Arg979Gln) c.2825G>A (p.Arg942Gln) c.2855G>A (p.Arg952Gln) c.2612G>A (p.Arg871Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.47848771G>C | CA352591983 | DHX30 | c.2723G>C (p.Arg908Pro) c.2639G>C (p.Arg880Pro) c.*2623G>C (n.*2623G>C) c.2807G>C (p.Arg936Pro) n.840G>C c.2606G>C (p.Arg869Pro) c.2627G>C (p.Arg876Pro) c.2936G>C (p.Arg979Pro) c.2825G>C (p.Arg942Pro) c.2855G>C (p.Arg952Pro) c.2612G>C (p.Arg871Pro) | |
| 3 | g.47848771G= | CA1362750442 | DHX30 | c.2723G= (p.Arg908=) c.2639G= (p.Arg880=) c.*2623G= (n.*2623G=) c.2807G= (p.Arg936=) n.840G= c.2606G= (p.Arg869=) c.2627G= (p.Arg876=) c.2936G= (p.Arg979=) c.2825G= (p.Arg942=) c.2855G= (p.Arg952=) c.2612G= (p.Arg871=) | |
| 3 | g.47848771G>T | CA352591985 | DHX30 | c.2723G>T (p.Arg908Leu) c.2639G>T (p.Arg880Leu) c.*2623G>T (n.*2623G>T) c.2807G>T (p.Arg936Leu) n.840G>T c.2606G>T (p.Arg869Leu) c.2627G>T (p.Arg876Leu) c.2936G>T (p.Arg979Leu) c.2825G>T (p.Arg942Leu) c.2855G>T (p.Arg952Leu) c.2612G>T (p.Arg871Leu) | |
| 3 | g.47848772G>A | CA433609258 | DHX30 | c.2724G>A (p.Arg908=) c.2640G>A (p.Arg880=) c.*2624G>A (n.*2624G>A) c.2808G>A (p.Arg936=) n.841G>A c.2607G>A (p.Arg869=) c.2628G>A (p.Arg876=) c.2937G>A (p.Arg979=) c.2826G>A (p.Arg942=) c.2856G>A (p.Arg952=) c.2613G>A (p.Arg871=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848772G>C | CA433609260 | DHX30 | c.2724G>C (p.Arg908=) c.2640G>C (p.Arg880=) c.*2624G>C (n.*2624G>C) c.2808G>C (p.Arg936=) n.841G>C c.2607G>C (p.Arg869=) c.2628G>C (p.Arg876=) c.2937G>C (p.Arg979=) c.2826G>C (p.Arg942=) c.2856G>C (p.Arg952=) c.2613G>C (p.Arg871=) | |
| 3 | g.47848772G= | CA1362750443 | DHX30 | c.2724G= (p.Arg908=) c.2640G= (p.Arg880=) c.*2624G= (n.*2624G=) c.2808G= (p.Arg936=) n.841G= c.2607G= (p.Arg869=) c.2628G= (p.Arg876=) c.2937G= (p.Arg979=) c.2826G= (p.Arg942=) c.2856G= (p.Arg952=) c.2613G= (p.Arg871=) | |
| 3 | g.47848772G>T | CA433609263 | DHX30 | c.2724G>T (p.Arg908=) c.2640G>T (p.Arg880=) c.*2624G>T (n.*2624G>T) c.2808G>T (p.Arg936=) n.841G>T c.2607G>T (p.Arg869=) c.2628G>T (p.Arg876=) c.2937G>T (p.Arg979=) c.2826G>T (p.Arg942=) c.2856G>T (p.Arg952=) c.2613G>T (p.Arg871=) | |
| 3 | g.47848773G>A | CA352591991 | DHX30 | c.2725G>A (p.Asp909Asn) c.2641G>A (p.Asp881Asn) c.*2625G>A (n.*2625G>A) c.2809G>A (p.Asp937Asn) n.842G>A c.2608G>A (p.Asp870Asn) c.2629G>A (p.Asp877Asn) c.2938G>A (p.Asp980Asn) c.2827G>A (p.Asp943Asn) c.2857G>A (p.Asp953Asn) c.2614G>A (p.Asp872Asn) | dbSNP gnomAD v2 |
| 3 | g.47848773G>C | CA352591989 | DHX30 | c.2725G>C (p.Asp909His) c.2641G>C (p.Asp881His) c.*2625G>C (n.*2625G>C) c.2809G>C (p.Asp937His) n.842G>C c.2608G>C (p.Asp870His) c.2629G>C (p.Asp877His) c.2938G>C (p.Asp980His) c.2827G>C (p.Asp943His) c.2857G>C (p.Asp953His) c.2614G>C (p.Asp872His) | |
| 3 | g.47848773G= | CA1362750444 | DHX30 | c.2725G= (p.Asp909=) c.2641G= (p.Asp881=) c.*2625G= (n.*2625G=) c.2809G= (p.Asp937=) n.842G= c.2608G= (p.Asp870=) c.2629G= (p.Asp877=) c.2938G= (p.Asp980=) c.2827G= (p.Asp943=) c.2857G= (p.Asp953=) c.2614G= (p.Asp872=) | |
| 3 | g.47848773G>T | CA352591988 | DHX30 | c.2725G>T (p.Asp909Tyr) c.2641G>T (p.Asp881Tyr) c.*2625G>T (n.*2625G>T) c.2809G>T (p.Asp937Tyr) n.842G>T c.2608G>T (p.Asp870Tyr) c.2629G>T (p.Asp877Tyr) c.2938G>T (p.Asp980Tyr) c.2827G>T (p.Asp943Tyr) c.2857G>T (p.Asp953Tyr) c.2614G>T (p.Asp872Tyr) | |
| 3 | g.47848774A>C | CA352591995 | DHX30 | c.2726A>C (p.Asp909Ala) c.2642A>C (p.Asp881Ala) c.*2626A>C (n.*2626A>C) c.2810A>C (p.Asp937Ala) n.843A>C c.2609A>C (p.Asp870Ala) c.2630A>C (p.Asp877Ala) c.2939A>C (p.Asp980Ala) c.2828A>C (p.Asp943Ala) c.2858A>C (p.Asp953Ala) c.2615A>C (p.Asp872Ala) | |
| 3 | g.47848774A>G | CA352591993 | DHX30 | c.2726A>G (p.Asp909Gly) c.2642A>G (p.Asp881Gly) c.*2626A>G (n.*2626A>G) c.2810A>G (p.Asp937Gly) n.843A>G c.2609A>G (p.Asp870Gly) c.2630A>G (p.Asp877Gly) c.2939A>G (p.Asp980Gly) c.2828A>G (p.Asp943Gly) c.2858A>G (p.Asp953Gly) c.2615A>G (p.Asp872Gly) | |
| 3 | g.47848774A>T | CA352591997 | DHX30 | c.2726A>T (p.Asp909Val) c.2642A>T (p.Asp881Val) c.*2626A>T (n.*2626A>T) c.2810A>T (p.Asp937Val) n.843A>T c.2609A>T (p.Asp870Val) c.2630A>T (p.Asp877Val) c.2939A>T (p.Asp980Val) c.2828A>T (p.Asp943Val) c.2858A>T (p.Asp953Val) c.2615A>T (p.Asp872Val) | |
| 3 | g.47848775C>A | CA352591999 | DHX30 | c.2727C>A (p.Asp909Glu) c.2643C>A (p.Asp881Glu) c.*2627C>A (n.*2627C>A) c.2811C>A (p.Asp937Glu) n.844C>A c.2610C>A (p.Asp870Glu) c.2631C>A (p.Asp877Glu) c.2940C>A (p.Asp980Glu) c.2829C>A (p.Asp943Glu) c.2859C>A (p.Asp953Glu) c.2616C>A (p.Asp872Glu) | |
| 3 | g.47848775C>G | CA352592001 | DHX30 | c.2727C>G (p.Asp909Glu) c.2643C>G (p.Asp881Glu) c.*2627C>G (n.*2627C>G) c.2811C>G (p.Asp937Glu) n.844C>G c.2610C>G (p.Asp870Glu) c.2631C>G (p.Asp877Glu) c.2940C>G (p.Asp980Glu) c.2829C>G (p.Asp943Glu) c.2859C>G (p.Asp953Glu) c.2616C>G (p.Asp872Glu) | |
| 3 | g.47848775C>T | CA433609278 | DHX30 | c.2727C>T (p.Asp909=) c.2643C>T (p.Asp881=) c.*2627C>T (n.*2627C>T) c.2811C>T (p.Asp937=) n.844C>T c.2610C>T (p.Asp870=) c.2631C>T (p.Asp877=) c.2940C>T (p.Asp980=) c.2829C>T (p.Asp943=) c.2859C>T (p.Asp953=) c.2616C>T (p.Asp872=) | |
| 3 | g.47848776C>A | CA352592004 | DHX30 | c.2728C>A (p.Pro910Thr) c.2644C>A (p.Pro882Thr) c.*2628C>A (n.*2628C>A) c.2812C>A (p.Pro938Thr) n.845C>A c.2611C>A (p.Pro871Thr) c.2632C>A (p.Pro878Thr) c.2941C>A (p.Pro981Thr) c.2830C>A (p.Pro944Thr) c.2860C>A (p.Pro954Thr) c.2617C>A (p.Pro873Thr) | |
| 3 | g.47848776C>G | CA352592005 | DHX30 | c.2728C>G (p.Pro910Ala) c.2644C>G (p.Pro882Ala) c.*2628C>G (n.*2628C>G) c.2812C>G (p.Pro938Ala) n.845C>G c.2611C>G (p.Pro871Ala) c.2632C>G (p.Pro878Ala) c.2941C>G (p.Pro981Ala) c.2830C>G (p.Pro944Ala) c.2860C>G (p.Pro954Ala) c.2617C>G (p.Pro873Ala) | |
| 3 | g.47848776C>T | CA352592006 | DHX30 | c.2728C>T (p.Pro910Ser) c.2644C>T (p.Pro882Ser) c.*2628C>T (n.*2628C>T) c.2812C>T (p.Pro938Ser) n.845C>T c.2611C>T (p.Pro871Ser) c.2632C>T (p.Pro878Ser) c.2941C>T (p.Pro981Ser) c.2830C>T (p.Pro944Ser) c.2860C>T (p.Pro954Ser) c.2617C>T (p.Pro873Ser) | |
| 3 | g.47848777C>A | CA352592009 | DHX30 | c.2729C>A (p.Pro910His) c.2645C>A (p.Pro882His) c.*2629C>A (n.*2629C>A) c.2813C>A (p.Pro938His) n.846C>A c.2612C>A (p.Pro871His) c.2633C>A (p.Pro878His) c.2942C>A (p.Pro981His) c.2831C>A (p.Pro944His) c.2861C>A (p.Pro954His) c.2618C>A (p.Pro873His) | |
| 3 | g.47848777C>G | CA352592010 | DHX30 | c.2729C>G (p.Pro910Arg) c.2645C>G (p.Pro882Arg) c.*2629C>G (n.*2629C>G) c.2813C>G (p.Pro938Arg) n.846C>G c.2612C>G (p.Pro871Arg) c.2633C>G (p.Pro878Arg) c.2942C>G (p.Pro981Arg) c.2831C>G (p.Pro944Arg) c.2861C>G (p.Pro954Arg) c.2618C>G (p.Pro873Arg) | |
| 3 | g.47848777C>T | CA352592012 | DHX30 | c.2729C>T (p.Pro910Leu) c.2645C>T (p.Pro882Leu) c.*2629C>T (n.*2629C>T) c.2813C>T (p.Pro938Leu) n.846C>T c.2612C>T (p.Pro871Leu) c.2633C>T (p.Pro878Leu) c.2942C>T (p.Pro981Leu) c.2831C>T (p.Pro944Leu) c.2861C>T (p.Pro954Leu) c.2618C>T (p.Pro873Leu) | |
| 3 | g.47848778C>A | CA433609292 | DHX30 | c.2730C>A (p.Pro910=) c.2646C>A (p.Pro882=) c.*2630C>A (n.*2630C>A) c.2814C>A (p.Pro938=) n.847C>A c.2613C>A (p.Pro871=) c.2634C>A (p.Pro878=) c.2943C>A (p.Pro981=) c.2832C>A (p.Pro944=) c.2862C>A (p.Pro954=) c.2619C>A (p.Pro873=) | dbSNP |
| 3 | g.47848778C= | CA1362750445 | DHX30 | c.2730C= (p.Pro910=) c.2646C= (p.Pro882=) c.*2630C= (n.*2630C=) c.2814C= (p.Pro938=) n.847C= c.2613C= (p.Pro871=) c.2634C= (p.Pro878=) c.2943C= (p.Pro981=) c.2832C= (p.Pro944=) c.2862C= (p.Pro954=) c.2619C= (p.Pro873=) | |
| 3 | g.47848778C>G | CA2370199 | DHX30 | c.2730C>G (p.Pro910=) c.2646C>G (p.Pro882=) c.*2630C>G (n.*2630C>G) c.2814C>G (p.Pro938=) n.847C>G c.2613C>G (p.Pro871=) c.2634C>G (p.Pro878=) c.2943C>G (p.Pro981=) c.2832C>G (p.Pro944=) c.2862C>G (p.Pro954=) c.2619C>G (p.Pro873=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848778C>T | CA433609301 | DHX30 | c.2730C>T (p.Pro910=) c.2646C>T (p.Pro882=) c.*2630C>T (n.*2630C>T) c.2814C>T (p.Pro938=) n.847C>T c.2613C>T (p.Pro871=) c.2634C>T (p.Pro878=) c.2943C>T (p.Pro981=) c.2832C>T (p.Pro944=) c.2862C>T (p.Pro954=) c.2619C>T (p.Pro873=) | |
| 3 | g.47848779T>A | CA352592014 | DHX30 | c.2731T>A (p.Phe911Ile) c.2647T>A (p.Phe883Ile) c.*2631T>A (n.*2631T>A) c.2815T>A (p.Phe939Ile) n.848T>A c.2614T>A (p.Phe872Ile) c.2635T>A (p.Phe879Ile) c.2944T>A (p.Phe982Ile) c.2833T>A (p.Phe945Ile) c.2863T>A (p.Phe955Ile) c.2620T>A (p.Phe874Ile) | |
| 3 | g.47848779T>C | CA352592016 | DHX30 | c.2731T>C (p.Phe911Leu) c.2647T>C (p.Phe883Leu) c.*2631T>C (n.*2631T>C) c.2815T>C (p.Phe939Leu) n.848T>C c.2614T>C (p.Phe872Leu) c.2635T>C (p.Phe879Leu) c.2944T>C (p.Phe982Leu) c.2833T>C (p.Phe945Leu) c.2863T>C (p.Phe955Leu) c.2620T>C (p.Phe874Leu) | |
| 3 | g.47848779T>G | CA352592018 | DHX30 | c.2731T>G (p.Phe911Val) c.2647T>G (p.Phe883Val) c.*2631T>G (n.*2631T>G) c.2815T>G (p.Phe939Val) n.848T>G c.2614T>G (p.Phe872Val) c.2635T>G (p.Phe879Val) c.2944T>G (p.Phe982Val) c.2833T>G (p.Phe945Val) c.2863T>G (p.Phe955Val) c.2620T>G (p.Phe874Val) | |
| 3 | g.47848780T>A | CA352592023 | DHX30 | c.2732T>A (p.Phe911Tyr) c.2648T>A (p.Phe883Tyr) c.*2632T>A (n.*2632T>A) c.2816T>A (p.Phe939Tyr) n.849T>A c.2615T>A (p.Phe872Tyr) c.2636T>A (p.Phe879Tyr) c.2945T>A (p.Phe982Tyr) c.2834T>A (p.Phe945Tyr) c.2864T>A (p.Phe955Tyr) c.2621T>A (p.Phe874Tyr) | |
| 3 | g.47848780T>C | CA352592021 | DHX30 | c.2732T>C (p.Phe911Ser) c.2648T>C (p.Phe883Ser) c.*2632T>C (n.*2632T>C) c.2816T>C (p.Phe939Ser) n.849T>C c.2615T>C (p.Phe872Ser) c.2636T>C (p.Phe879Ser) c.2945T>C (p.Phe982Ser) c.2834T>C (p.Phe945Ser) c.2864T>C (p.Phe955Ser) c.2621T>C (p.Phe874Ser) | |
| 3 | g.47848780T>G | CA352592020 | DHX30 | c.2732T>G (p.Phe911Cys) c.2648T>G (p.Phe883Cys) c.*2632T>G (n.*2632T>G) c.2816T>G (p.Phe939Cys) n.849T>G c.2615T>G (p.Phe872Cys) c.2636T>G (p.Phe879Cys) c.2945T>G (p.Phe982Cys) c.2834T>G (p.Phe945Cys) c.2864T>G (p.Phe955Cys) c.2621T>G (p.Phe874Cys) | |
| 3 | g.47848781C>A | CA352592025 | DHX30 | c.2733C>A (p.Phe911Leu) c.2649C>A (p.Phe883Leu) c.*2633C>A (n.*2633C>A) c.2817C>A (p.Phe939Leu) n.850C>A c.2616C>A (p.Phe872Leu) c.2637C>A (p.Phe879Leu) c.2946C>A (p.Phe982Leu) c.2835C>A (p.Phe945Leu) c.2865C>A (p.Phe955Leu) c.2622C>A (p.Phe874Leu) | |
| 3 | g.47848781C= | CA1362750446 | DHX30 | c.2733C= (p.Phe911=) c.2649C= (p.Phe883=) c.*2633C= (n.*2633C=) c.2817C= (p.Phe939=) n.850C= c.2616C= (p.Phe872=) c.2637C= (p.Phe879=) c.2946C= (p.Phe982=) c.2835C= (p.Phe945=) c.2865C= (p.Phe955=) c.2622C= (p.Phe874=) | |
| 3 | g.47848781C>G | CA352592026 | DHX30 | c.2733C>G (p.Phe911Leu) c.2649C>G (p.Phe883Leu) c.*2633C>G (n.*2633C>G) c.2817C>G (p.Phe939Leu) n.850C>G c.2616C>G (p.Phe872Leu) c.2637C>G (p.Phe879Leu) c.2946C>G (p.Phe982Leu) c.2835C>G (p.Phe945Leu) c.2865C>G (p.Phe955Leu) c.2622C>G (p.Phe874Leu) | |
| 3 | g.47848781C>T | CA2370200 | DHX30 | c.2733C>T (p.Phe911=) c.2649C>T (p.Phe883=) c.*2633C>T (n.*2633C>T) c.2817C>T (p.Phe939=) n.850C>T c.2616C>T (p.Phe872=) c.2637C>T (p.Phe879=) c.2946C>T (p.Phe982=) c.2835C>T (p.Phe945=) c.2865C>T (p.Phe955=) c.2622C>T (p.Phe874=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848788_47848790del | CA2665559768 | DHX30 | c.2740_2742del (p.Ser914del) c.2656_2658del (p.Ser886del) c.*2640_*2642del (n.*2640_*2642del) c.2824_2826del (p.Ser942del) n.857_859del c.2623_2625del (p.Ser875del) c.2644_2646del (p.Ser882del) c.2953_2955del (p.Ser985del) c.2842_2844del (p.Ser948del) c.2872_2874del (p.Ser958del) c.2629_2631del (p.Ser877del) | gnomAD v4 |
| 3 | g.47848782A>C | CA352592029 | DHX30 | c.2734A>C (p.Ser912Arg) c.2650A>C (p.Ser884Arg) c.*2634A>C (n.*2634A>C) c.2818A>C (p.Ser940Arg) n.851A>C c.2617A>C (p.Ser873Arg) c.2638A>C (p.Ser880Arg) c.2947A>C (p.Ser983Arg) c.2836A>C (p.Ser946Arg) c.2866A>C (p.Ser956Arg) c.2623A>C (p.Ser875Arg) | |
| 3 | g.47848782A>G | CA352592030 | DHX30 | c.2734A>G (p.Ser912Gly) c.2650A>G (p.Ser884Gly) c.*2634A>G (n.*2634A>G) c.2818A>G (p.Ser940Gly) n.851A>G c.2617A>G (p.Ser873Gly) c.2638A>G (p.Ser880Gly) c.2947A>G (p.Ser983Gly) c.2836A>G (p.Ser946Gly) c.2866A>G (p.Ser956Gly) c.2623A>G (p.Ser875Gly) | |
| 3 | g.47848782A>T | CA352592032 | DHX30 | c.2734A>T (p.Ser912Cys) c.2650A>T (p.Ser884Cys) c.*2634A>T (n.*2634A>T) c.2818A>T (p.Ser940Cys) n.851A>T c.2617A>T (p.Ser873Cys) c.2638A>T (p.Ser880Cys) c.2947A>T (p.Ser983Cys) c.2836A>T (p.Ser946Cys) c.2866A>T (p.Ser956Cys) c.2623A>T (p.Ser875Cys) | |
| 3 | g.47848783G>A | CA352592035 | DHX30 | c.2735G>A (p.Ser912Asn) c.2651G>A (p.Ser884Asn) c.*2635G>A (n.*2635G>A) c.2819G>A (p.Ser940Asn) n.852G>A c.2618G>A (p.Ser873Asn) c.2639G>A (p.Ser880Asn) c.2948G>A (p.Ser983Asn) c.2837G>A (p.Ser946Asn) c.2867G>A (p.Ser956Asn) c.2624G>A (p.Ser875Asn) | |
| 3 | g.47848783G>C | CA352592036 | DHX30 | c.2735G>C (p.Ser912Thr) c.2651G>C (p.Ser884Thr) c.*2635G>C (n.*2635G>C) c.2819G>C (p.Ser940Thr) n.852G>C c.2618G>C (p.Ser873Thr) c.2639G>C (p.Ser880Thr) c.2948G>C (p.Ser983Thr) c.2837G>C (p.Ser946Thr) c.2867G>C (p.Ser956Thr) c.2624G>C (p.Ser875Thr) | dbSNP |
| 3 | g.47848783G= | CA1362750447 | DHX30 | c.2735G= (p.Ser912=) c.2651G= (p.Ser884=) c.*2635G= (n.*2635G=) c.2819G= (p.Ser940=) n.852G= c.2618G= (p.Ser873=) c.2639G= (p.Ser880=) c.2948G= (p.Ser983=) c.2837G= (p.Ser946=) c.2867G= (p.Ser956=) c.2624G= (p.Ser875=) | |
| 3 | g.47848783G>T | CA352592038 | DHX30 | c.2735G>T (p.Ser912Ile) c.2651G>T (p.Ser884Ile) c.*2635G>T (n.*2635G>T) c.2819G>T (p.Ser940Ile) n.852G>T c.2618G>T (p.Ser873Ile) c.2639G>T (p.Ser880Ile) c.2948G>T (p.Ser983Ile) c.2837G>T (p.Ser946Ile) c.2867G>T (p.Ser956Ile) c.2624G>T (p.Ser875Ile) | |
| 3 | g.47848784C>A | CA352592040 | DHX30 | c.2736C>A (p.Ser912Arg) c.2652C>A (p.Ser884Arg) c.*2636C>A (n.*2636C>A) c.2820C>A (p.Ser940Arg) n.853C>A c.2619C>A (p.Ser873Arg) c.2640C>A (p.Ser880Arg) c.2949C>A (p.Ser983Arg) c.2838C>A (p.Ser946Arg) c.2868C>A (p.Ser956Arg) c.2625C>A (p.Ser875Arg) | |
| 3 | g.47848784C= | CA1362750448 | DHX30 | c.2736C= (p.Ser912=) c.2652C= (p.Ser884=) c.*2636C= (n.*2636C=) c.2820C= (p.Ser940=) n.853C= c.2619C= (p.Ser873=) c.2640C= (p.Ser880=) c.2949C= (p.Ser983=) c.2838C= (p.Ser946=) c.2868C= (p.Ser956=) c.2625C= (p.Ser875=) | |
| 3 | g.47848784C>G | CA352592042 | DHX30 | c.2736C>G (p.Ser912Arg) c.2652C>G (p.Ser884Arg) c.*2636C>G (n.*2636C>G) c.2820C>G (p.Ser940Arg) n.853C>G c.2619C>G (p.Ser873Arg) c.2640C>G (p.Ser880Arg) c.2949C>G (p.Ser983Arg) c.2838C>G (p.Ser946Arg) c.2868C>G (p.Ser956Arg) c.2625C>G (p.Ser875Arg) | dbSNP gnomAD v4 |
| 3 | g.47848784C>T | CA2370201 | DHX30 | c.2736C>T (p.Ser912=) c.2652C>T (p.Ser884=) c.*2636C>T (n.*2636C>T) c.2820C>T (p.Ser940=) n.853C>T c.2619C>T (p.Ser873=) c.2640C>T (p.Ser880=) c.2949C>T (p.Ser983=) c.2838C>T (p.Ser946=) c.2868C>T (p.Ser956=) c.2625C>T (p.Ser875=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848785A= | CA1362750449 | DHX30 | c.2737A= (p.Ser913=) c.2653A= (p.Ser885=) c.*2637A= (n.*2637A=) c.2821A= (p.Ser941=) n.854A= c.2620A= (p.Ser874=) c.2641A= (p.Ser881=) c.2950A= (p.Ser984=) c.2839A= (p.Ser947=) c.2869A= (p.Ser957=) c.2626A= (p.Ser876=) | |
| 3 | g.47848785A>C | CA352592050 | DHX30 | c.2737A>C (p.Ser913Arg) c.2653A>C (p.Ser885Arg) c.*2637A>C (n.*2637A>C) c.2821A>C (p.Ser941Arg) n.854A>C c.2620A>C (p.Ser874Arg) c.2641A>C (p.Ser881Arg) c.2950A>C (p.Ser984Arg) c.2839A>C (p.Ser947Arg) c.2869A>C (p.Ser957Arg) c.2626A>C (p.Ser876Arg) | |
| 3 | g.47848785A>G | CA352592048 | DHX30 | c.2737A>G (p.Ser913Gly) c.2653A>G (p.Ser885Gly) c.*2637A>G (n.*2637A>G) c.2821A>G (p.Ser941Gly) n.854A>G c.2620A>G (p.Ser874Gly) c.2641A>G (p.Ser881Gly) c.2950A>G (p.Ser984Gly) c.2839A>G (p.Ser947Gly) c.2869A>G (p.Ser957Gly) c.2626A>G (p.Ser876Gly) | |
| 3 | g.47848785A>T | CA352592046 | DHX30 | c.2737A>T (p.Ser913Cys) c.2653A>T (p.Ser885Cys) c.*2637A>T (n.*2637A>T) c.2821A>T (p.Ser941Cys) n.854A>T c.2620A>T (p.Ser874Cys) c.2641A>T (p.Ser881Cys) c.2950A>T (p.Ser984Cys) c.2839A>T (p.Ser947Cys) c.2869A>T (p.Ser957Cys) c.2626A>T (p.Ser876Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848786G>A | CA352592053 | DHX30 | c.2738G>A (p.Ser913Asn) c.2654G>A (p.Ser885Asn) c.*2638G>A (n.*2638G>A) c.2822G>A (p.Ser941Asn) n.855G>A c.2621G>A (p.Ser874Asn) c.2642G>A (p.Ser881Asn) c.2951G>A (p.Ser984Asn) c.2840G>A (p.Ser947Asn) c.2870G>A (p.Ser957Asn) c.2627G>A (p.Ser876Asn) | |
| 3 | g.47848786G>C | CA352592054 | DHX30 | c.2738G>C (p.Ser913Thr) c.2654G>C (p.Ser885Thr) c.*2638G>C (n.*2638G>C) c.2822G>C (p.Ser941Thr) n.855G>C c.2621G>C (p.Ser874Thr) c.2642G>C (p.Ser881Thr) c.2951G>C (p.Ser984Thr) c.2840G>C (p.Ser947Thr) c.2870G>C (p.Ser957Thr) c.2627G>C (p.Ser876Thr) | gnomAD v4 |
| 3 | g.47848786G>T | CA352592055 | DHX30 | c.2738G>T (p.Ser913Ile) c.2654G>T (p.Ser885Ile) c.*2638G>T (n.*2638G>T) c.2822G>T (p.Ser941Ile) n.855G>T c.2621G>T (p.Ser874Ile) c.2642G>T (p.Ser881Ile) c.2951G>T (p.Ser984Ile) c.2840G>T (p.Ser947Ile) c.2870G>T (p.Ser957Ile) c.2627G>T (p.Ser876Ile) | |
| 3 | g.47848787C>A | CA352592057 | DHX30 | c.2739C>A (p.Ser913Arg) c.2655C>A (p.Ser885Arg) c.*2639C>A (n.*2639C>A) c.2823C>A (p.Ser941Arg) n.856C>A c.2622C>A (p.Ser874Arg) c.2643C>A (p.Ser881Arg) c.2952C>A (p.Ser984Arg) c.2841C>A (p.Ser947Arg) c.2871C>A (p.Ser957Arg) c.2628C>A (p.Ser876Arg) | |
| 3 | g.47848787C>G | CA352592059 | DHX30 | c.2739C>G (p.Ser913Arg) c.2655C>G (p.Ser885Arg) c.*2639C>G (n.*2639C>G) c.2823C>G (p.Ser941Arg) n.856C>G c.2622C>G (p.Ser874Arg) c.2643C>G (p.Ser881Arg) c.2952C>G (p.Ser984Arg) c.2841C>G (p.Ser947Arg) c.2871C>G (p.Ser957Arg) c.2628C>G (p.Ser876Arg) | |
| 3 | g.47848787C>T | CA433609328 | DHX30 | c.2739C>T (p.Ser913=) c.2655C>T (p.Ser885=) c.*2639C>T (n.*2639C>T) c.2823C>T (p.Ser941=) n.856C>T c.2622C>T (p.Ser874=) c.2643C>T (p.Ser881=) c.2952C>T (p.Ser984=) c.2841C>T (p.Ser947=) c.2871C>T (p.Ser957=) c.2628C>T (p.Ser876=) | |
| 3 | g.47848788A>C | CA352592061 | DHX30 | c.2740A>C (p.Ser914Arg) c.2656A>C (p.Ser886Arg) c.*2640A>C (n.*2640A>C) c.2824A>C (p.Ser942Arg) n.857A>C c.2623A>C (p.Ser875Arg) c.2644A>C (p.Ser882Arg) c.2953A>C (p.Ser985Arg) c.2842A>C (p.Ser948Arg) c.2872A>C (p.Ser958Arg) c.2629A>C (p.Ser877Arg) | |
| 3 | g.47848788A>G | CA352592063 | DHX30 | c.2740A>G (p.Ser914Gly) c.2656A>G (p.Ser886Gly) c.*2640A>G (n.*2640A>G) c.2824A>G (p.Ser942Gly) n.857A>G c.2623A>G (p.Ser875Gly) c.2644A>G (p.Ser882Gly) c.2953A>G (p.Ser985Gly) c.2842A>G (p.Ser948Gly) c.2872A>G (p.Ser958Gly) c.2629A>G (p.Ser877Gly) | |
| 3 | g.47848788A>T | CA352592064 | DHX30 | c.2740A>T (p.Ser914Cys) c.2656A>T (p.Ser886Cys) c.*2640A>T (n.*2640A>T) c.2824A>T (p.Ser942Cys) n.857A>T c.2623A>T (p.Ser875Cys) c.2644A>T (p.Ser882Cys) c.2953A>T (p.Ser985Cys) c.2842A>T (p.Ser948Cys) c.2872A>T (p.Ser958Cys) c.2629A>T (p.Ser877Cys) | |
| 3 | g.47848789G>A | CA352592067 | DHX30 | c.2741G>A (p.Ser914Asn) c.2657G>A (p.Ser886Asn) c.*2641G>A (n.*2641G>A) c.2825G>A (p.Ser942Asn) n.858G>A c.2624G>A (p.Ser875Asn) c.2645G>A (p.Ser882Asn) c.2954G>A (p.Ser985Asn) c.2843G>A (p.Ser948Asn) c.2873G>A (p.Ser958Asn) c.2630G>A (p.Ser877Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47848789G>C | CA352592069 | DHX30 | c.2741G>C (p.Ser914Thr) c.2657G>C (p.Ser886Thr) c.*2641G>C (n.*2641G>C) c.2825G>C (p.Ser942Thr) n.858G>C c.2624G>C (p.Ser875Thr) c.2645G>C (p.Ser882Thr) c.2954G>C (p.Ser985Thr) c.2843G>C (p.Ser948Thr) c.2873G>C (p.Ser958Thr) c.2630G>C (p.Ser877Thr) | |
| 3 | g.47848789G= | CA1362750450 | DHX30 | c.2741G= (p.Ser914=) c.2657G= (p.Ser886=) c.*2641G= (n.*2641G=) c.2825G= (p.Ser942=) n.858G= c.2624G= (p.Ser875=) c.2645G= (p.Ser882=) c.2954G= (p.Ser985=) c.2843G= (p.Ser948=) c.2873G= (p.Ser958=) c.2630G= (p.Ser877=) | |
| 3 | g.47848789G>T | CA352592071 | DHX30 | c.2741G>T (p.Ser914Ile) c.2657G>T (p.Ser886Ile) c.*2641G>T (n.*2641G>T) c.2825G>T (p.Ser942Ile) n.858G>T c.2624G>T (p.Ser875Ile) c.2645G>T (p.Ser882Ile) c.2954G>T (p.Ser985Ile) c.2843G>T (p.Ser948Ile) c.2873G>T (p.Ser958Ile) c.2630G>T (p.Ser877Ile) | |
| 3 | g.47848790C>A | CA352592074 | DHX30 | c.2742C>A (p.Ser914Arg) c.2658C>A (p.Ser886Arg) c.*2642C>A (n.*2642C>A) c.2826C>A (p.Ser942Arg) n.859C>A c.2625C>A (p.Ser875Arg) c.2646C>A (p.Ser882Arg) c.2955C>A (p.Ser985Arg) c.2844C>A (p.Ser948Arg) c.2874C>A (p.Ser958Arg) c.2631C>A (p.Ser877Arg) | |
| 3 | g.47848790C>G | CA352592076 | DHX30 | c.2742C>G (p.Ser914Arg) c.2658C>G (p.Ser886Arg) c.*2642C>G (n.*2642C>G) c.2826C>G (p.Ser942Arg) n.859C>G c.2625C>G (p.Ser875Arg) c.2646C>G (p.Ser882Arg) c.2955C>G (p.Ser985Arg) c.2844C>G (p.Ser948Arg) c.2874C>G (p.Ser958Arg) c.2631C>G (p.Ser877Arg) | |
| 3 | g.47848790C>T | CA433609329 | DHX30 | c.2742C>T (p.Ser914=) c.2658C>T (p.Ser886=) c.*2642C>T (n.*2642C>T) c.2826C>T (p.Ser942=) n.859C>T c.2625C>T (p.Ser875=) c.2646C>T (p.Ser882=) c.2955C>T (p.Ser985=) c.2844C>T (p.Ser948=) c.2874C>T (p.Ser958=) c.2631C>T (p.Ser877=) | |
| 3 | g.47848791C>A | CA352592080 | DHX30 | c.2743C>A (p.Leu915Ile) c.2659C>A (p.Leu887Ile) c.*2643C>A (n.*2643C>A) c.2827C>A (p.Leu943Ile) n.860C>A c.2626C>A (p.Leu876Ile) c.2647C>A (p.Leu883Ile) c.2956C>A (p.Leu986Ile) c.2845C>A (p.Leu949Ile) c.2875C>A (p.Leu959Ile) c.2632C>A (p.Leu878Ile) | |
| 3 | g.47848791C>G | CA352592078 | DHX30 | c.2743C>G (p.Leu915Val) c.2659C>G (p.Leu887Val) c.*2643C>G (n.*2643C>G) c.2827C>G (p.Leu943Val) n.860C>G c.2626C>G (p.Leu876Val) c.2647C>G (p.Leu883Val) c.2956C>G (p.Leu986Val) c.2845C>G (p.Leu949Val) c.2875C>G (p.Leu959Val) c.2632C>G (p.Leu878Val) | |
| 3 | g.47848791C>T | CA433609330 | DHX30 | c.2743C>T (p.Leu915=) c.2659C>T (p.Leu887=) c.*2643C>T (n.*2643C>T) c.2827C>T (p.Leu943=) n.860C>T c.2626C>T (p.Leu876=) c.2647C>T (p.Leu883=) c.2956C>T (p.Leu986=) c.2845C>T (p.Leu949=) c.2875C>T (p.Leu959=) c.2632C>T (p.Leu878=) | |
| 3 | g.47848792T>A | CA352592082 | DHX30 | c.2744T>A (p.Leu915Gln) c.2660T>A (p.Leu887Gln) c.*2644T>A (n.*2644T>A) c.2828T>A (p.Leu943Gln) n.861T>A c.2627T>A (p.Leu876Gln) c.2648T>A (p.Leu883Gln) c.2957T>A (p.Leu986Gln) c.2846T>A (p.Leu949Gln) c.2876T>A (p.Leu959Gln) c.2633T>A (p.Leu878Gln) | |
| 3 | g.47848792T>C | CA352592084 | DHX30 | c.2744T>C (p.Leu915Pro) c.2660T>C (p.Leu887Pro) c.*2644T>C (n.*2644T>C) c.2828T>C (p.Leu943Pro) n.861T>C c.2627T>C (p.Leu876Pro) c.2648T>C (p.Leu883Pro) c.2957T>C (p.Leu986Pro) c.2846T>C (p.Leu949Pro) c.2876T>C (p.Leu959Pro) c.2633T>C (p.Leu878Pro) | gnomAD v4 |
| 3 | g.47848792T>G | CA352592085 | DHX30 | c.2744T>G (p.Leu915Arg) c.2660T>G (p.Leu887Arg) c.*2644T>G (n.*2644T>G) c.2828T>G (p.Leu943Arg) n.861T>G c.2627T>G (p.Leu876Arg) c.2648T>G (p.Leu883Arg) c.2957T>G (p.Leu986Arg) c.2846T>G (p.Leu949Arg) c.2876T>G (p.Leu959Arg) c.2633T>G (p.Leu878Arg) | |
| 3 | g.47848793del | CA2577582613 | DHX30 | c.2745del (p.Gln916ArgfsTer9) c.2661del (p.Gln888ArgfsTer9) c.*2645del (n.*2645del) c.2829del (p.Gln944ArgfsTer9) n.862del c.2628del (p.Gln877ArgfsTer9) c.2649del (p.Gln884ArgfsTer9) c.2958del (p.Gln987ArgfsTer9) c.2847del (p.Gln950ArgfsTer9) c.2877del (p.Gln960ArgfsTer9) c.2634del (p.Gln879ArgfsTer9) | |
| 3 | g.47848793A= | CA1362750451 | DHX30 | c.2745A= (p.Leu915=) c.2661A= (p.Leu887=) c.*2645A= (n.*2645A=) c.2829A= (p.Leu943=) n.862A= c.2628A= (p.Leu876=) c.2649A= (p.Leu883=) c.2958A= (p.Leu986=) c.2847A= (p.Leu949=) c.2877A= (p.Leu959=) c.2634A= (p.Leu878=) | |
| 3 | g.47848793A>C | CA433609331 | DHX30 | c.2745A>C (p.Leu915=) c.2661A>C (p.Leu887=) c.*2645A>C (n.*2645A>C) c.2829A>C (p.Leu943=) n.862A>C c.2628A>C (p.Leu876=) c.2649A>C (p.Leu883=) c.2958A>C (p.Leu986=) c.2847A>C (p.Leu949=) c.2877A>C (p.Leu959=) c.2634A>C (p.Leu878=) | |
| 3 | g.47848793A>G | CA433609332 | DHX30 | c.2745A>G (p.Leu915=) c.2661A>G (p.Leu887=) c.*2645A>G (n.*2645A>G) c.2829A>G (p.Leu943=) n.862A>G c.2628A>G (p.Leu876=) c.2649A>G (p.Leu883=) c.2958A>G (p.Leu986=) c.2847A>G (p.Leu949=) c.2877A>G (p.Leu959=) c.2634A>G (p.Leu878=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848793A>T | CA433609333 | DHX30 | c.2745A>T (p.Leu915=) c.2661A>T (p.Leu887=) c.*2645A>T (n.*2645A>T) c.2829A>T (p.Leu943=) n.862A>T c.2628A>T (p.Leu876=) c.2649A>T (p.Leu883=) c.2958A>T (p.Leu986=) c.2847A>T (p.Leu949=) c.2877A>T (p.Leu959=) c.2634A>T (p.Leu878=) | |
| 3 | g.47848794C>A | CA352592087 | DHX30 | c.2746C>A (p.Gln916Lys) c.2662C>A (p.Gln888Lys) c.*2646C>A (n.*2646C>A) c.2830C>A (p.Gln944Lys) n.863C>A c.2629C>A (p.Gln877Lys) c.2650C>A (p.Gln884Lys) c.2959C>A (p.Gln987Lys) c.2848C>A (p.Gln950Lys) c.2878C>A (p.Gln960Lys) c.2635C>A (p.Gln879Lys) | |
| 3 | g.47848794C>G | CA352592089 | DHX30 | c.2746C>G (p.Gln916Glu) c.2662C>G (p.Gln888Glu) c.*2646C>G (n.*2646C>G) c.2830C>G (p.Gln944Glu) n.863C>G c.2629C>G (p.Gln877Glu) c.2650C>G (p.Gln884Glu) c.2959C>G (p.Gln987Glu) c.2848C>G (p.Gln950Glu) c.2878C>G (p.Gln960Glu) c.2635C>G (p.Gln879Glu) | |
| 3 | g.47848794C>T | CA352592090 | DHX30 | c.2746C>T (p.Gln916Ter) c.2662C>T (p.Gln888Ter) c.*2646C>T (n.*2646C>T) c.2830C>T (p.Gln944Ter) n.863C>T c.2629C>T (p.Gln877Ter) c.2650C>T (p.Gln884Ter) c.2959C>T (p.Gln987Ter) c.2848C>T (p.Gln950Ter) c.2878C>T (p.Gln960Ter) c.2635C>T (p.Gln879Ter) | |
| 3 | g.47848795A>C | CA352592091 | DHX30 | c.2747A>C (p.Gln916Pro) c.2663A>C (p.Gln888Pro) c.*2647A>C (n.*2647A>C) c.2831A>C (p.Gln944Pro) n.864A>C c.2630A>C (p.Gln877Pro) c.2651A>C (p.Gln884Pro) c.2960A>C (p.Gln987Pro) c.2849A>C (p.Gln950Pro) c.2879A>C (p.Gln960Pro) c.2636A>C (p.Gln879Pro) | |
| 3 | g.47848795A>G | CA352592092 | DHX30 | c.2747A>G (p.Gln916Arg) c.2663A>G (p.Gln888Arg) c.*2647A>G (n.*2647A>G) c.2831A>G (p.Gln944Arg) n.864A>G c.2630A>G (p.Gln877Arg) c.2651A>G (p.Gln884Arg) c.2960A>G (p.Gln987Arg) c.2849A>G (p.Gln950Arg) c.2879A>G (p.Gln960Arg) c.2636A>G (p.Gln879Arg) | |
| 3 | g.47848795A>T | CA352592093 | DHX30 | c.2747A>T (p.Gln916Leu) c.2663A>T (p.Gln888Leu) c.*2647A>T (n.*2647A>T) c.2831A>T (p.Gln944Leu) n.864A>T c.2630A>T (p.Gln877Leu) c.2651A>T (p.Gln884Leu) c.2960A>T (p.Gln987Leu) c.2849A>T (p.Gln950Leu) c.2879A>T (p.Gln960Leu) c.2636A>T (p.Gln879Leu) | |
| 3 | g.47848796G>A | CA433609334 | DHX30 | c.2748G>A (p.Gln916=) c.2664G>A (p.Gln888=) c.*2648G>A (n.*2648G>A) c.2832G>A (p.Gln944=) n.865G>A c.2631G>A (p.Gln877=) c.2652G>A (p.Gln884=) c.2961G>A (p.Gln987=) c.2850G>A (p.Gln950=) c.2880G>A (p.Gln960=) c.2637G>A (p.Gln879=) | |
| 3 | g.47848796G>C | CA352592094 | DHX30 | c.2748G>C (p.Gln916His) c.2664G>C (p.Gln888His) c.*2648G>C (n.*2648G>C) c.2832G>C (p.Gln944His) n.865G>C c.2631G>C (p.Gln877His) c.2652G>C (p.Gln884His) c.2961G>C (p.Gln987His) c.2850G>C (p.Gln950His) c.2880G>C (p.Gln960His) c.2637G>C (p.Gln879His) | |
| 3 | g.47848796G>T | CA352592095 | DHX30 | c.2748G>T (p.Gln916His) c.2664G>T (p.Gln888His) c.*2648G>T (n.*2648G>T) c.2832G>T (p.Gln944His) n.865G>T c.2631G>T (p.Gln877His) c.2652G>T (p.Gln884His) c.2961G>T (p.Gln987His) c.2850G>T (p.Gln950His) c.2880G>T (p.Gln960His) c.2637G>T (p.Gln879His) | dbSNP |
| 3 | g.47848797A>C | CA352592096 | DHX30 | c.2749A>C (p.Asn917His) c.2665A>C (p.Asn889His) c.*2649A>C (n.*2649A>C) c.2833A>C (p.Asn945His) n.866A>C c.2632A>C (p.Asn878His) c.2653A>C (p.Asn885His) c.2962A>C (p.Asn988His) c.2851A>C (p.Asn951His) c.2881A>C (p.Asn961His) c.2638A>C (p.Asn880His) | |
| 3 | g.47848797A>G | CA352592097 | DHX30 | c.2749A>G (p.Asn917Asp) c.2665A>G (p.Asn889Asp) c.*2649A>G (n.*2649A>G) c.2833A>G (p.Asn945Asp) n.866A>G c.2632A>G (p.Asn878Asp) c.2653A>G (p.Asn885Asp) c.2962A>G (p.Asn988Asp) c.2851A>G (p.Asn951Asp) c.2881A>G (p.Asn961Asp) c.2638A>G (p.Asn880Asp) | |
| 3 | g.47848797A>T | CA352592098 | DHX30 | c.2749A>T (p.Asn917Tyr) c.2665A>T (p.Asn889Tyr) c.*2649A>T (n.*2649A>T) c.2833A>T (p.Asn945Tyr) n.866A>T c.2632A>T (p.Asn878Tyr) c.2653A>T (p.Asn885Tyr) c.2962A>T (p.Asn988Tyr) c.2851A>T (p.Asn951Tyr) c.2881A>T (p.Asn961Tyr) c.2638A>T (p.Asn880Tyr) | |
| 3 | g.47848798A>C | CA352592101 | DHX30 | c.2750A>C (p.Asn917Thr) c.2666A>C (p.Asn889Thr) c.*2650A>C (n.*2650A>C) c.2834A>C (p.Asn945Thr) n.867A>C c.2633A>C (p.Asn878Thr) c.2654A>C (p.Asn885Thr) c.2963A>C (p.Asn988Thr) c.2852A>C (p.Asn951Thr) c.2882A>C (p.Asn961Thr) c.2639A>C (p.Asn880Thr) | dbSNP |
| 3 | g.47848798A>G | CA352592102 | DHX30 | c.2750A>G (p.Asn917Ser) c.2666A>G (p.Asn889Ser) c.*2650A>G (n.*2650A>G) c.2834A>G (p.Asn945Ser) n.867A>G c.2633A>G (p.Asn878Ser) c.2654A>G (p.Asn885Ser) c.2963A>G (p.Asn988Ser) c.2852A>G (p.Asn951Ser) c.2882A>G (p.Asn961Ser) c.2639A>G (p.Asn880Ser) | |
| 3 | g.47848798A>T | CA352592100 | DHX30 | c.2750A>T (p.Asn917Ile) c.2666A>T (p.Asn889Ile) c.*2650A>T (n.*2650A>T) c.2834A>T (p.Asn945Ile) n.867A>T c.2633A>T (p.Asn878Ile) c.2654A>T (p.Asn885Ile) c.2963A>T (p.Asn988Ile) c.2852A>T (p.Asn951Ile) c.2882A>T (p.Asn961Ile) c.2639A>T (p.Asn880Ile) | |
| 3 | g.47848799C>A | CA352592109 | DHX30 | c.2751C>A (p.Asn917Lys) c.2667C>A (p.Asn889Lys) c.*2651C>A (n.*2651C>A) c.2835C>A (p.Asn945Lys) n.868C>A c.2634C>A (p.Asn878Lys) c.2655C>A (p.Asn885Lys) c.2964C>A (p.Asn988Lys) c.2853C>A (p.Asn951Lys) c.2883C>A (p.Asn961Lys) c.2640C>A (p.Asn880Lys) | |
| 3 | g.47848799C>G | CA352592111 | DHX30 | c.2751C>G (p.Asn917Lys) c.2667C>G (p.Asn889Lys) c.*2651C>G (n.*2651C>G) c.2835C>G (p.Asn945Lys) n.868C>G c.2634C>G (p.Asn878Lys) c.2655C>G (p.Asn885Lys) c.2964C>G (p.Asn988Lys) c.2853C>G (p.Asn951Lys) c.2883C>G (p.Asn961Lys) c.2640C>G (p.Asn880Lys) | |
| 3 | g.47848799C>T | CA433609336 | DHX30 | c.2751C>T (p.Asn917=) c.2667C>T (p.Asn889=) c.*2651C>T (n.*2651C>T) c.2835C>T (p.Asn945=) n.868C>T c.2634C>T (p.Asn878=) c.2655C>T (p.Asn885=) c.2964C>T (p.Asn988=) c.2853C>T (p.Asn951=) c.2883C>T (p.Asn961=) c.2640C>T (p.Asn880=) | |
| 3 | g.47848800C>A | CA433609337 | DHX30 | c.2752C>A (p.Arg918=) c.2668C>A (p.Arg890=) c.*2652C>A (n.*2652C>A) c.2836C>A (p.Arg946=) n.869C>A c.2635C>A (p.Arg879=) c.2656C>A (p.Arg886=) c.2965C>A (p.Arg989=) c.2854C>A (p.Arg952=) c.2884C>A (p.Arg962=) c.2641C>A (p.Arg881=) | dbSNP gnomAD v4 |
| 3 | g.47848800C>G | CA352592114 | DHX30 | c.2752C>G (p.Arg918Gly) c.2668C>G (p.Arg890Gly) c.*2652C>G (n.*2652C>G) c.2836C>G (p.Arg946Gly) n.869C>G c.2635C>G (p.Arg879Gly) c.2656C>G (p.Arg886Gly) c.2965C>G (p.Arg989Gly) c.2854C>G (p.Arg952Gly) c.2884C>G (p.Arg962Gly) c.2641C>G (p.Arg881Gly) | |
| 3 | g.47848800C>T | CA352592115 | DHX30 | c.2752C>T (p.Arg918Trp) c.2668C>T (p.Arg890Trp) c.*2652C>T (n.*2652C>T) c.2836C>T (p.Arg946Trp) n.869C>T c.2635C>T (p.Arg879Trp) c.2656C>T (p.Arg886Trp) c.2965C>T (p.Arg989Trp) c.2854C>T (p.Arg952Trp) c.2884C>T (p.Arg962Trp) c.2641C>T (p.Arg881Trp) | gnomAD v4 |
| 3 | g.47848801G>A | CA352592116 | DHX30 | c.2753G>A (p.Arg918Gln) c.2669G>A (p.Arg890Gln) c.*2653G>A (n.*2653G>A) c.2837G>A (p.Arg946Gln) n.870G>A c.2636G>A (p.Arg879Gln) c.2657G>A (p.Arg886Gln) c.2966G>A (p.Arg989Gln) c.2855G>A (p.Arg952Gln) c.2885G>A (p.Arg962Gln) c.2642G>A (p.Arg881Gln) | dbSNP gnomAD v4 |
| 3 | g.47848801G>C | CA352592117 | DHX30 | c.2753G>C (p.Arg918Pro) c.2669G>C (p.Arg890Pro) c.*2653G>C (n.*2653G>C) c.2837G>C (p.Arg946Pro) n.870G>C c.2636G>C (p.Arg879Pro) c.2657G>C (p.Arg886Pro) c.2966G>C (p.Arg989Pro) c.2855G>C (p.Arg952Pro) c.2885G>C (p.Arg962Pro) c.2642G>C (p.Arg881Pro) | |
| 3 | g.47848801G>T | CA352592118 | DHX30 | c.2753G>T (p.Arg918Leu) c.2669G>T (p.Arg890Leu) c.*2653G>T (n.*2653G>T) c.2837G>T (p.Arg946Leu) n.870G>T c.2636G>T (p.Arg879Leu) c.2657G>T (p.Arg886Leu) c.2966G>T (p.Arg989Leu) c.2855G>T (p.Arg952Leu) c.2885G>T (p.Arg962Leu) c.2642G>T (p.Arg881Leu) | COSMIC |
| 3 | g.47848802G>A | CA433609338 | DHX30 | c.2754G>A (p.Arg918=) c.2670G>A (p.Arg890=) c.*2654G>A (n.*2654G>A) c.2838G>A (p.Arg946=) n.871G>A c.2637G>A (p.Arg879=) c.2658G>A (p.Arg886=) c.2967G>A (p.Arg989=) c.2856G>A (p.Arg952=) c.2886G>A (p.Arg962=) c.2643G>A (p.Arg881=) | gnomAD v4 |
| 3 | g.47848802G>C | CA433609339 | DHX30 | c.2754G>C (p.Arg918=) c.2670G>C (p.Arg890=) c.*2654G>C (n.*2654G>C) c.2838G>C (p.Arg946=) n.871G>C c.2637G>C (p.Arg879=) c.2658G>C (p.Arg886=) c.2967G>C (p.Arg989=) c.2856G>C (p.Arg952=) c.2886G>C (p.Arg962=) c.2643G>C (p.Arg881=) | |
| 3 | g.47848802G>T | CA433609340 | DHX30 | c.2754G>T (p.Arg918=) c.2670G>T (p.Arg890=) c.*2654G>T (n.*2654G>T) c.2838G>T (p.Arg946=) n.871G>T c.2637G>T (p.Arg879=) c.2658G>T (p.Arg886=) c.2967G>T (p.Arg989=) c.2856G>T (p.Arg952=) c.2886G>T (p.Arg962=) c.2643G>T (p.Arg881=) | |
| 3 | g.47848803G>A | CA352592119 | DHX30 | c.2755G>A (p.Ala919Thr) c.2671G>A (p.Ala891Thr) c.*2655G>A (n.*2655G>A) c.2839G>A (p.Ala947Thr) n.872G>A c.2638G>A (p.Ala880Thr) c.2659G>A (p.Ala887Thr) c.2968G>A (p.Ala990Thr) c.2857G>A (p.Ala953Thr) c.2887G>A (p.Ala963Thr) c.2644G>A (p.Ala882Thr) | |
| 3 | g.47848803G>C | CA352592121 | DHX30 | c.2755G>C (p.Ala919Pro) c.2671G>C (p.Ala891Pro) c.*2655G>C (n.*2655G>C) c.2839G>C (p.Ala947Pro) n.872G>C c.2638G>C (p.Ala880Pro) c.2659G>C (p.Ala887Pro) c.2968G>C (p.Ala990Pro) c.2857G>C (p.Ala953Pro) c.2887G>C (p.Ala963Pro) c.2644G>C (p.Ala882Pro) | |
| 3 | g.47848803G>T | CA352592122 | DHX30 | c.2755G>T (p.Ala919Ser) c.2671G>T (p.Ala891Ser) c.*2655G>T (n.*2655G>T) c.2839G>T (p.Ala947Ser) n.872G>T c.2638G>T (p.Ala880Ser) c.2659G>T (p.Ala887Ser) c.2968G>T (p.Ala990Ser) c.2857G>T (p.Ala953Ser) c.2887G>T (p.Ala963Ser) c.2644G>T (p.Ala882Ser) | |
| 3 | g.47848804C>A | CA352592124 | DHX30 | c.2756C>A (p.Ala919Glu) c.2672C>A (p.Ala891Glu) c.*2656C>A (n.*2656C>A) c.2840C>A (p.Ala947Glu) n.873C>A c.2639C>A (p.Ala880Glu) c.2660C>A (p.Ala887Glu) c.2969C>A (p.Ala990Glu) c.2858C>A (p.Ala953Glu) c.2888C>A (p.Ala963Glu) c.2645C>A (p.Ala882Glu) | COSMIC |
| 3 | g.47848804C>G | CA352592126 | DHX30 | c.2756C>G (p.Ala919Gly) c.2672C>G (p.Ala891Gly) c.*2656C>G (n.*2656C>G) c.2840C>G (p.Ala947Gly) n.873C>G c.2639C>G (p.Ala880Gly) c.2660C>G (p.Ala887Gly) c.2969C>G (p.Ala990Gly) c.2858C>G (p.Ala953Gly) c.2888C>G (p.Ala963Gly) c.2645C>G (p.Ala882Gly) | dbSNP |
| 3 | g.47848804C>T | CA352592127 | DHX30 | c.2756C>T (p.Ala919Val) c.2672C>T (p.Ala891Val) c.*2656C>T (n.*2656C>T) c.2840C>T (p.Ala947Val) n.873C>T c.2639C>T (p.Ala880Val) c.2660C>T (p.Ala887Val) c.2969C>T (p.Ala990Val) c.2858C>T (p.Ala953Val) c.2888C>T (p.Ala963Val) c.2645C>T (p.Ala882Val) | |
| 3 | g.47848805A= | CA1362750452 | DHX30 | c.2757A= (p.Ala919=) c.2673A= (p.Ala891=) c.*2657A= (n.*2657A=) c.2841A= (p.Ala947=) n.874A= c.2640A= (p.Ala880=) c.2661A= (p.Ala887=) c.2970A= (p.Ala990=) c.2859A= (p.Ala953=) c.2889A= (p.Ala963=) c.2646A= (p.Ala882=) | |
| 3 | g.47848805A>C | CA433609341 | DHX30 | c.2757A>C (p.Ala919=) c.2673A>C (p.Ala891=) c.*2657A>C (n.*2657A>C) c.2841A>C (p.Ala947=) n.874A>C c.2640A>C (p.Ala880=) c.2661A>C (p.Ala887=) c.2970A>C (p.Ala990=) c.2859A>C (p.Ala953=) c.2889A>C (p.Ala963=) c.2646A>C (p.Ala882=) | |
| 3 | g.47848805A>G | CA73899603 | DHX30 | c.2757A>G (p.Ala919=) c.2673A>G (p.Ala891=) c.*2657A>G (n.*2657A>G) c.2841A>G (p.Ala947=) n.874A>G c.2640A>G (p.Ala880=) c.2661A>G (p.Ala887=) c.2970A>G (p.Ala990=) c.2859A>G (p.Ala953=) c.2889A>G (p.Ala963=) c.2646A>G (p.Ala882=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848805A>T | CA433609342 | DHX30 | c.2757A>T (p.Ala919=) c.2673A>T (p.Ala891=) c.*2657A>T (n.*2657A>T) c.2841A>T (p.Ala947=) n.874A>T c.2640A>T (p.Ala880=) c.2661A>T (p.Ala887=) c.2970A>T (p.Ala990=) c.2859A>T (p.Ala953=) c.2889A>T (p.Ala963=) c.2646A>T (p.Ala882=) | |
| 3 | g.47848806G>A | CA352592130 | DHX30 | c.2758G>A (p.Glu920Lys) c.2674G>A (p.Glu892Lys) c.*2658G>A (n.*2658G>A) c.2842G>A (p.Glu948Lys) n.875G>A c.2641G>A (p.Glu881Lys) c.2662G>A (p.Glu888Lys) c.2971G>A (p.Glu991Lys) c.2860G>A (p.Glu954Lys) c.2890G>A (p.Glu964Lys) c.2647G>A (p.Glu883Lys) | |
| 3 | g.47848806G>C | CA73899604 | DHX30 | c.2758G>C (p.Glu920Gln) c.2674G>C (p.Glu892Gln) c.*2658G>C (n.*2658G>C) c.2842G>C (p.Glu948Gln) n.875G>C c.2641G>C (p.Glu881Gln) c.2662G>C (p.Glu888Gln) c.2971G>C (p.Glu991Gln) c.2860G>C (p.Glu954Gln) c.2890G>C (p.Glu964Gln) c.2647G>C (p.Glu883Gln) | dbSNP |
| 3 | g.47848806G= | CA1362750453 | DHX30 | c.2758G= (p.Glu920=) c.2674G= (p.Glu892=) c.*2658G= (n.*2658G=) c.2842G= (p.Glu948=) n.875G= c.2641G= (p.Glu881=) c.2662G= (p.Glu888=) c.2971G= (p.Glu991=) c.2860G= (p.Glu954=) c.2890G= (p.Glu964=) c.2647G= (p.Glu883=) | |
| 3 | g.47848806G>T | CA352592132 | DHX30 | c.2758G>T (p.Glu920Ter) c.2674G>T (p.Glu892Ter) c.*2658G>T (n.*2658G>T) c.2842G>T (p.Glu948Ter) n.875G>T c.2641G>T (p.Glu881Ter) c.2662G>T (p.Glu888Ter) c.2971G>T (p.Glu991Ter) c.2860G>T (p.Glu954Ter) c.2890G>T (p.Glu964Ter) c.2647G>T (p.Glu883Ter) | |
| 3 | g.47848807A>C | CA352592136 | DHX30 | c.2759A>C (p.Glu920Ala) c.2675A>C (p.Glu892Ala) c.*2659A>C (n.*2659A>C) c.2843A>C (p.Glu948Ala) n.876A>C c.2642A>C (p.Glu881Ala) c.2663A>C (p.Glu888Ala) c.2972A>C (p.Glu991Ala) c.2861A>C (p.Glu954Ala) c.2891A>C (p.Glu964Ala) c.2648A>C (p.Glu883Ala) | |
| 3 | g.47848807A>G | CA352592134 | DHX30 | c.2759A>G (p.Glu920Gly) c.2675A>G (p.Glu892Gly) c.*2659A>G (n.*2659A>G) c.2843A>G (p.Glu948Gly) n.876A>G c.2642A>G (p.Glu881Gly) c.2663A>G (p.Glu888Gly) c.2972A>G (p.Glu991Gly) c.2861A>G (p.Glu954Gly) c.2891A>G (p.Glu964Gly) c.2648A>G (p.Glu883Gly) | |
| 3 | g.47848807A>T | CA352592135 | DHX30 | c.2759A>T (p.Glu920Val) c.2675A>T (p.Glu892Val) c.*2659A>T (n.*2659A>T) c.2843A>T (p.Glu948Val) n.876A>T c.2642A>T (p.Glu881Val) c.2663A>T (p.Glu888Val) c.2972A>T (p.Glu991Val) c.2861A>T (p.Glu954Val) c.2891A>T (p.Glu964Val) c.2648A>T (p.Glu883Val) | |
| 3 | g.47848808G>A | CA73899605 | DHX30 | c.2760G>A (p.Glu920=) c.2676G>A (p.Glu892=) c.*2660G>A (n.*2660G>A) c.2844G>A (p.Glu948=) n.877G>A c.2643G>A (p.Glu881=) c.2664G>A (p.Glu888=) c.2973G>A (p.Glu991=) c.2862G>A (p.Glu954=) c.2892G>A (p.Glu964=) c.2649G>A (p.Glu883=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848808G>C | CA352592138 | DHX30 | c.2760G>C (p.Glu920Asp) c.2676G>C (p.Glu892Asp) c.*2660G>C (n.*2660G>C) c.2844G>C (p.Glu948Asp) n.877G>C c.2643G>C (p.Glu881Asp) c.2664G>C (p.Glu888Asp) c.2973G>C (p.Glu991Asp) c.2862G>C (p.Glu954Asp) c.2892G>C (p.Glu964Asp) c.2649G>C (p.Glu883Asp) | |
| 3 | g.47848808G= | CA1362750454 | DHX30 | c.2760G= (p.Glu920=) c.2676G= (p.Glu892=) c.*2660G= (n.*2660G=) c.2844G= (p.Glu948=) n.877G= c.2643G= (p.Glu881=) c.2664G= (p.Glu888=) c.2973G= (p.Glu991=) c.2862G= (p.Glu954=) c.2892G= (p.Glu964=) c.2649G= (p.Glu883=) | |
| 3 | g.47848808G>T | CA352592140 | DHX30 | c.2760G>T (p.Glu920Asp) c.2676G>T (p.Glu892Asp) c.*2660G>T (n.*2660G>T) c.2844G>T (p.Glu948Asp) n.877G>T c.2643G>T (p.Glu881Asp) c.2664G>T (p.Glu888Asp) c.2973G>T (p.Glu991Asp) c.2862G>T (p.Glu954Asp) c.2892G>T (p.Glu964Asp) c.2649G>T (p.Glu883Asp) | gnomAD v4 |
| 3 | g.47848809G>A | CA352592142 | DHX30 | c.2761G>A (p.Val921Met) c.2677G>A (p.Val893Met) c.*2661G>A (n.*2661G>A) c.2845G>A (p.Val949Met) n.878G>A c.2644G>A (p.Val882Met) c.2665G>A (p.Val889Met) c.2974G>A (p.Val992Met) c.2863G>A (p.Val955Met) c.2893G>A (p.Val965Met) c.2650G>A (p.Val884Met) | |
| 3 | g.47848809G>C | CA352592144 | DHX30 | c.2761G>C (p.Val921Leu) c.2677G>C (p.Val893Leu) c.*2661G>C (n.*2661G>C) c.2845G>C (p.Val949Leu) n.878G>C c.2644G>C (p.Val882Leu) c.2665G>C (p.Val889Leu) c.2974G>C (p.Val992Leu) c.2863G>C (p.Val955Leu) c.2893G>C (p.Val965Leu) c.2650G>C (p.Val884Leu) | |
| 3 | g.47848809G>T | CA352592145 | DHX30 | c.2761G>T (p.Val921Leu) c.2677G>T (p.Val893Leu) c.*2661G>T (n.*2661G>T) c.2845G>T (p.Val949Leu) n.878G>T c.2644G>T (p.Val882Leu) c.2665G>T (p.Val889Leu) c.2974G>T (p.Val992Leu) c.2863G>T (p.Val955Leu) c.2893G>T (p.Val965Leu) c.2650G>T (p.Val884Leu) | |
| 3 | g.47848810T>A | CA352592148 | DHX30 | c.2762T>A (p.Val921Glu) c.2678T>A (p.Val893Glu) c.*2662T>A (n.*2662T>A) c.2846T>A (p.Val949Glu) n.879T>A c.2645T>A (p.Val882Glu) c.2666T>A (p.Val889Glu) c.2975T>A (p.Val992Glu) c.2864T>A (p.Val955Glu) c.2894T>A (p.Val965Glu) c.2651T>A (p.Val884Glu) | |
| 3 | g.47848810T>C | CA352592151 | DHX30 | c.2762T>C (p.Val921Ala) c.2678T>C (p.Val893Ala) c.*2662T>C (n.*2662T>C) c.2846T>C (p.Val949Ala) n.879T>C c.2645T>C (p.Val882Ala) c.2666T>C (p.Val889Ala) c.2975T>C (p.Val992Ala) c.2864T>C (p.Val955Ala) c.2894T>C (p.Val965Ala) c.2651T>C (p.Val884Ala) | |
| 3 | g.47848810T>G | CA352592152 | DHX30 | c.2762T>G (p.Val921Gly) c.2678T>G (p.Val893Gly) c.*2662T>G (n.*2662T>G) c.2846T>G (p.Val949Gly) n.879T>G c.2645T>G (p.Val882Gly) c.2666T>G (p.Val889Gly) c.2975T>G (p.Val992Gly) c.2864T>G (p.Val955Gly) c.2894T>G (p.Val965Gly) c.2651T>G (p.Val884Gly) | dbSNP |
| 3 | g.47848810T= | CA1362750455 | DHX30 | c.2762T= (p.Val921=) c.2678T= (p.Val893=) c.*2662T= (n.*2662T=) c.2846T= (p.Val949=) n.879T= c.2645T= (p.Val882=) c.2666T= (p.Val889=) c.2975T= (p.Val992=) c.2864T= (p.Val955=) c.2894T= (p.Val965=) c.2651T= (p.Val884=) | |
| 3 | g.47848811G>A | CA433609361 | DHX30 | c.2763G>A (p.Val921=) c.2679G>A (p.Val893=) c.*2663G>A (n.*2663G>A) c.2847G>A (p.Val949=) n.880G>A c.2646G>A (p.Val882=) c.2667G>A (p.Val889=) c.2976G>A (p.Val992=) c.2865G>A (p.Val955=) c.2895G>A (p.Val965=) c.2652G>A (p.Val884=) | dbSNP gnomAD v4 |
| 3 | g.47848811G>C | CA433609360 | DHX30 | c.2763G>C (p.Val921=) c.2679G>C (p.Val893=) c.*2663G>C (n.*2663G>C) c.2847G>C (p.Val949=) n.880G>C c.2646G>C (p.Val882=) c.2667G>C (p.Val889=) c.2976G>C (p.Val992=) c.2865G>C (p.Val955=) c.2895G>C (p.Val965=) c.2652G>C (p.Val884=) | |
| 3 | g.47848811G>T | CA433609359 | DHX30 | c.2763G>T (p.Val921=) c.2679G>T (p.Val893=) c.*2663G>T (n.*2663G>T) c.2847G>T (p.Val949=) n.880G>T c.2646G>T (p.Val882=) c.2667G>T (p.Val889=) c.2976G>T (p.Val992=) c.2865G>T (p.Val955=) c.2895G>T (p.Val965=) c.2652G>T (p.Val884=) | |
| 3 | g.47848812G>A | CA2370202 | DHX30 | c.2764G>A (p.Asp922Asn) c.2680G>A (p.Asp894Asn) c.*2664G>A (n.*2664G>A) c.2848G>A (p.Asp950Asn) n.881G>A c.2647G>A (p.Asp883Asn) c.2668G>A (p.Asp890Asn) c.2977G>A (p.Asp993Asn) c.2866G>A (p.Asp956Asn) c.2896G>A (p.Asp966Asn) c.2653G>A (p.Asp885Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848812G>C | CA352592156 | DHX30 | c.2764G>C (p.Asp922His) c.2680G>C (p.Asp894His) c.*2664G>C (n.*2664G>C) c.2848G>C (p.Asp950His) n.881G>C c.2647G>C (p.Asp883His) c.2668G>C (p.Asp890His) c.2977G>C (p.Asp993His) c.2866G>C (p.Asp956His) c.2896G>C (p.Asp966His) c.2653G>C (p.Asp885His) | |
| 3 | g.47848812G= | CA1362750456 | DHX30 | c.2764G= (p.Asp922=) c.2680G= (p.Asp894=) c.*2664G= (n.*2664G=) c.2848G= (p.Asp950=) n.881G= c.2647G= (p.Asp883=) c.2668G= (p.Asp890=) c.2977G= (p.Asp993=) c.2866G= (p.Asp956=) c.2896G= (p.Asp966=) c.2653G= (p.Asp885=) | |
| 3 | g.47848812G>T | CA352592158 | DHX30 | c.2764G>T (p.Asp922Tyr) c.2680G>T (p.Asp894Tyr) c.*2664G>T (n.*2664G>T) c.2848G>T (p.Asp950Tyr) n.881G>T c.2647G>T (p.Asp883Tyr) c.2668G>T (p.Asp890Tyr) c.2977G>T (p.Asp993Tyr) c.2866G>T (p.Asp956Tyr) c.2896G>T (p.Asp966Tyr) c.2653G>T (p.Asp885Tyr) | |
| 3 | g.47848813A>C | CA352592167 | DHX30 | c.2765A>C (p.Asp922Ala) c.2681A>C (p.Asp894Ala) c.*2665A>C (n.*2665A>C) c.2849A>C (p.Asp950Ala) n.882A>C c.2648A>C (p.Asp883Ala) c.2669A>C (p.Asp890Ala) c.2978A>C (p.Asp993Ala) c.2867A>C (p.Asp956Ala) c.2897A>C (p.Asp966Ala) c.2654A>C (p.Asp885Ala) | |
| 3 | g.47848813A>G | CA352592168 | DHX30 | c.2765A>G (p.Asp922Gly) c.2681A>G (p.Asp894Gly) c.*2665A>G (n.*2665A>G) c.2849A>G (p.Asp950Gly) n.882A>G c.2648A>G (p.Asp883Gly) c.2669A>G (p.Asp890Gly) c.2978A>G (p.Asp993Gly) c.2867A>G (p.Asp956Gly) c.2897A>G (p.Asp966Gly) c.2654A>G (p.Asp885Gly) | |
| 3 | g.47848813A>T | CA352592165 | DHX30 | c.2765A>T (p.Asp922Val) c.2681A>T (p.Asp894Val) c.*2665A>T (n.*2665A>T) c.2849A>T (p.Asp950Val) n.882A>T c.2648A>T (p.Asp883Val) c.2669A>T (p.Asp890Val) c.2978A>T (p.Asp993Val) c.2867A>T (p.Asp956Val) c.2897A>T (p.Asp966Val) c.2654A>T (p.Asp885Val) | |
| 3 | g.47848814C>A | CA352592171 | DHX30 | c.2766C>A (p.Asp922Glu) c.2682C>A (p.Asp894Glu) c.*2666C>A (n.*2666C>A) c.2850C>A (p.Asp950Glu) n.883C>A c.2649C>A (p.Asp883Glu) c.2670C>A (p.Asp890Glu) c.2979C>A (p.Asp993Glu) c.2868C>A (p.Asp956Glu) c.2898C>A (p.Asp966Glu) c.2655C>A (p.Asp885Glu) | |
| 3 | g.47848814C>G | CA352592173 | DHX30 | c.2766C>G (p.Asp922Glu) c.2682C>G (p.Asp894Glu) c.*2666C>G (n.*2666C>G) c.2850C>G (p.Asp950Glu) n.883C>G c.2649C>G (p.Asp883Glu) c.2670C>G (p.Asp890Glu) c.2979C>G (p.Asp993Glu) c.2868C>G (p.Asp956Glu) c.2898C>G (p.Asp966Glu) c.2655C>G (p.Asp885Glu) | |
| 3 | g.47848814C>T | CA433609371 | DHX30 | c.2766C>T (p.Asp922=) c.2682C>T (p.Asp894=) c.*2666C>T (n.*2666C>T) c.2850C>T (p.Asp950=) n.883C>T c.2649C>T (p.Asp883=) c.2670C>T (p.Asp890=) c.2979C>T (p.Asp993=) c.2868C>T (p.Asp956=) c.2898C>T (p.Asp966=) c.2655C>T (p.Asp885=) | gnomAD v4 |
| 3 | g.47848815A= | CA1362750457 | DHX30 | c.2767A= (p.Lys923=) c.2683A= (p.Lys895=) c.*2667A= (n.*2667A=) c.2851A= (p.Lys951=) n.884A= c.2650A= (p.Lys884=) c.2671A= (p.Lys891=) c.2980A= (p.Lys994=) c.2869A= (p.Lys957=) c.2899A= (p.Lys967=) c.2656A= (p.Lys886=) | |
| 3 | g.47848815A>C | CA352592176 | DHX30 | c.2767A>C (p.Lys923Gln) c.2683A>C (p.Lys895Gln) c.*2667A>C (n.*2667A>C) c.2851A>C (p.Lys951Gln) n.884A>C c.2650A>C (p.Lys884Gln) c.2671A>C (p.Lys891Gln) c.2980A>C (p.Lys994Gln) c.2869A>C (p.Lys957Gln) c.2899A>C (p.Lys967Gln) c.2656A>C (p.Lys886Gln) | |
| 3 | g.47848815A>G | CA352592177 | DHX30 | c.2767A>G (p.Lys923Glu) c.2683A>G (p.Lys895Glu) c.*2667A>G (n.*2667A>G) c.2851A>G (p.Lys951Glu) n.884A>G c.2650A>G (p.Lys884Glu) c.2671A>G (p.Lys891Glu) c.2980A>G (p.Lys994Glu) c.2869A>G (p.Lys957Glu) c.2899A>G (p.Lys967Glu) c.2656A>G (p.Lys886Glu) | dbSNP |
| 3 | g.47848815A>T | CA352592179 | DHX30 | c.2767A>T (p.Lys923Ter) c.2683A>T (p.Lys895Ter) c.*2667A>T (n.*2667A>T) c.2851A>T (p.Lys951Ter) n.884A>T c.2650A>T (p.Lys884Ter) c.2671A>T (p.Lys891Ter) c.2980A>T (p.Lys994Ter) c.2869A>T (p.Lys957Ter) c.2899A>T (p.Lys967Ter) c.2656A>T (p.Lys886Ter) | |
| 3 | g.47848816A>C | CA352592181 | DHX30 | c.2768A>C (p.Lys923Thr) c.2684A>C (p.Lys895Thr) c.*2668A>C (n.*2668A>C) c.2852A>C (p.Lys951Thr) n.885A>C c.2651A>C (p.Lys884Thr) c.2672A>C (p.Lys891Thr) c.2981A>C (p.Lys994Thr) c.2870A>C (p.Lys957Thr) c.2900A>C (p.Lys967Thr) c.2657A>C (p.Lys886Thr) | |
| 3 | g.47848816A>G | CA352592183 | DHX30 | c.2768A>G (p.Lys923Arg) c.2684A>G (p.Lys895Arg) c.*2668A>G (n.*2668A>G) c.2852A>G (p.Lys951Arg) n.885A>G c.2651A>G (p.Lys884Arg) c.2672A>G (p.Lys891Arg) c.2981A>G (p.Lys994Arg) c.2870A>G (p.Lys957Arg) c.2900A>G (p.Lys967Arg) c.2657A>G (p.Lys886Arg) | |
| 3 | g.47848816A>T | CA352592185 | DHX30 | c.2768A>T (p.Lys923Met) c.2684A>T (p.Lys895Met) c.*2668A>T (n.*2668A>T) c.2852A>T (p.Lys951Met) n.885A>T c.2651A>T (p.Lys884Met) c.2672A>T (p.Lys891Met) c.2981A>T (p.Lys994Met) c.2870A>T (p.Lys957Met) c.2900A>T (p.Lys967Met) c.2657A>T (p.Lys886Met) | |
| 3 | g.47848817G>A | CA433609382 | DHX30 | c.2769G>A (p.Lys923=) c.2685G>A (p.Lys895=) c.*2669G>A (n.*2669G>A) c.2853G>A (p.Lys951=) n.886G>A c.2652G>A (p.Lys884=) c.2673G>A (p.Lys891=) c.2982G>A (p.Lys994=) c.2871G>A (p.Lys957=) c.2901G>A (p.Lys967=) c.2658G>A (p.Lys886=) | |
| 3 | g.47848817G>C | CA352592187 | DHX30 | c.2769G>C (p.Lys923Asn) c.2685G>C (p.Lys895Asn) c.*2669G>C (n.*2669G>C) c.2853G>C (p.Lys951Asn) n.886G>C c.2652G>C (p.Lys884Asn) c.2673G>C (p.Lys891Asn) c.2982G>C (p.Lys994Asn) c.2871G>C (p.Lys957Asn) c.2901G>C (p.Lys967Asn) c.2658G>C (p.Lys886Asn) | |
| 3 | g.47848817G>T | CA352592189 | DHX30 | c.2769G>T (p.Lys923Asn) c.2685G>T (p.Lys895Asn) c.*2669G>T (n.*2669G>T) c.2853G>T (p.Lys951Asn) n.886G>T c.2652G>T (p.Lys884Asn) c.2673G>T (p.Lys891Asn) c.2982G>T (p.Lys994Asn) c.2871G>T (p.Lys957Asn) c.2901G>T (p.Lys967Asn) c.2658G>T (p.Lys886Asn) | |
| 3 | g.47848818G>A | CA352592190 | DHX30 | c.2769+1G>A (n.2769+1G>A) c.2685+1G>A (n.2685+1G>A) c.*2669+1G>A (n.*2669+1G>A) c.2853+1G>A (n.2853+1G>A) n.886+1G>A c.2652+1G>A (n.2652+1G>A) c.2673+1G>A (n.2673+1G>A) c.2982+1G>A (n.2982+1G>A) c.2871+1G>A (n.2871+1G>A) c.2901+1G>A (n.2901+1G>A) c.2658+1G>A (n.2658+1G>A) | |
| 3 | g.47848818G>C | CA352592192 | DHX30 | c.2769+1G>C (n.2769+1G>C) c.2685+1G>C (n.2685+1G>C) c.*2669+1G>C (n.*2669+1G>C) c.2853+1G>C (n.2853+1G>C) n.886+1G>C c.2652+1G>C (n.2652+1G>C) c.2673+1G>C (n.2673+1G>C) c.2982+1G>C (n.2982+1G>C) c.2871+1G>C (n.2871+1G>C) c.2901+1G>C (n.2901+1G>C) c.2658+1G>C (n.2658+1G>C) | |
| 3 | g.47848818G>T | CA352592194 | DHX30 | c.2769+1G>T (n.2769+1G>T) c.2685+1G>T (n.2685+1G>T) c.*2669+1G>T (n.*2669+1G>T) c.2853+1G>T (n.2853+1G>T) n.886+1G>T c.2652+1G>T (n.2652+1G>T) c.2673+1G>T (n.2673+1G>T) c.2982+1G>T (n.2982+1G>T) c.2871+1G>T (n.2871+1G>T) c.2901+1G>T (n.2901+1G>T) c.2658+1G>T (n.2658+1G>T) | |
| 3 | g.47848819T>A | CA352592200 | DHX30 | c.2769+2T>A (n.2769+2T>A) c.2685+2T>A (n.2685+2T>A) c.*2669+2T>A (n.*2669+2T>A) c.2853+2T>A (n.2853+2T>A) n.886+2T>A c.2652+2T>A (n.2652+2T>A) c.2673+2T>A (n.2673+2T>A) c.2982+2T>A (n.2982+2T>A) c.2871+2T>A (n.2871+2T>A) c.2901+2T>A (n.2901+2T>A) c.2658+2T>A (n.2658+2T>A) | |
| 3 | g.47848819T>C | CA352592198 | DHX30 | c.2769+2T>C (n.2769+2T>C) c.2685+2T>C (n.2685+2T>C) c.*2669+2T>C (n.*2669+2T>C) c.2853+2T>C (n.2853+2T>C) n.886+2T>C c.2652+2T>C (n.2652+2T>C) c.2673+2T>C (n.2673+2T>C) c.2982+2T>C (n.2982+2T>C) c.2871+2T>C (n.2871+2T>C) c.2901+2T>C (n.2901+2T>C) c.2658+2T>C (n.2658+2T>C) | |
| 3 | g.47848819T>G | CA352592196 | DHX30 | c.2769+2T>G (n.2769+2T>G) c.2685+2T>G (n.2685+2T>G) c.*2669+2T>G (n.*2669+2T>G) c.2853+2T>G (n.2853+2T>G) n.886+2T>G c.2652+2T>G (n.2652+2T>G) c.2673+2T>G (n.2673+2T>G) c.2982+2T>G (n.2982+2T>G) c.2871+2T>G (n.2871+2T>G) c.2901+2T>G (n.2901+2T>G) c.2658+2T>G (n.2658+2T>G) | |
| 3 | g.47848820C>G | CA2665559769 | DHX30 | c.2769+3C>G (n.2769+3C>G) c.2685+3C>G (n.2685+3C>G) c.*2669+3C>G (n.*2669+3C>G) c.2853+3C>G (n.2853+3C>G) n.886+3C>G c.2652+3C>G (n.2652+3C>G) c.2673+3C>G (n.2673+3C>G) c.2982+3C>G (n.2982+3C>G) c.2871+3C>G (n.2871+3C>G) c.2901+3C>G (n.2901+3C>G) c.2658+3C>G (n.2658+3C>G) | gnomAD v4 |
| 3 | g.47848823T>C | CA2370203 | DHX30 | c.2769+6T>C (n.2769+6T>C) c.2685+6T>C (n.2685+6T>C) c.*2669+6T>C (n.*2669+6T>C) c.2853+6T>C (n.2853+6T>C) n.886+6T>C c.2652+6T>C (n.2652+6T>C) c.2673+6T>C (n.2673+6T>C) c.2982+6T>C (n.2982+6T>C) c.2871+6T>C (n.2871+6T>C) c.2901+6T>C (n.2901+6T>C) c.2658+6T>C (n.2658+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848823T= | CA1362750458 | DHX30 | c.2769+6T= (n.2769+6T=) c.2685+6T= (n.2685+6T=) c.*2669+6T= (n.*2669+6T=) c.2853+6T= (n.2853+6T=) n.886+6T= c.2652+6T= (n.2652+6T=) c.2673+6T= (n.2673+6T=) c.2982+6T= (n.2982+6T=) c.2871+6T= (n.2871+6T=) c.2901+6T= (n.2901+6T=) c.2658+6T= (n.2658+6T=) | |
| 3 | g.47848824C>A | CA1362750460 | DHX30 | c.2769+7C>A (n.2769+7C>A) c.2685+7C>A (n.2685+7C>A) c.*2669+7C>A (n.*2669+7C>A) c.2853+7C>A (n.2853+7C>A) n.886+7C>A c.2652+7C>A (n.2652+7C>A) c.2673+7C>A (n.2673+7C>A) c.2982+7C>A (n.2982+7C>A) c.2871+7C>A (n.2871+7C>A) c.2901+7C>A (n.2901+7C>A) c.2658+7C>A (n.2658+7C>A) | dbSNP |
| 3 | g.47848824C= | CA1362750459 | DHX30 | c.2769+7C= (n.2769+7C=) c.2685+7C= (n.2685+7C=) c.*2669+7C= (n.*2669+7C=) c.2853+7C= (n.2853+7C=) n.886+7C= c.2652+7C= (n.2652+7C=) c.2673+7C= (n.2673+7C=) c.2982+7C= (n.2982+7C=) c.2871+7C= (n.2871+7C=) c.2901+7C= (n.2901+7C=) c.2658+7C= (n.2658+7C=) | |
| 3 | g.47848825C>A | CA1362750462 | DHX30 | c.2769+8C>A (n.2769+8C>A) c.2685+8C>A (n.2685+8C>A) c.*2669+8C>A (n.*2669+8C>A) c.2853+8C>A (n.2853+8C>A) n.886+8C>A c.2652+8C>A (n.2652+8C>A) c.2673+8C>A (n.2673+8C>A) c.2982+8C>A (n.2982+8C>A) c.2871+8C>A (n.2871+8C>A) c.2901+8C>A (n.2901+8C>A) c.2658+8C>A (n.2658+8C>A) | dbSNP |
| 3 | g.47848825C= | CA1362750461 | DHX30 | c.2769+8C= (n.2769+8C=) c.2685+8C= (n.2685+8C=) c.*2669+8C= (n.*2669+8C=) c.2853+8C= (n.2853+8C=) n.886+8C= c.2652+8C= (n.2652+8C=) c.2673+8C= (n.2673+8C=) c.2982+8C= (n.2982+8C=) c.2871+8C= (n.2871+8C=) c.2901+8C= (n.2901+8C=) c.2658+8C= (n.2658+8C=) | |
| 3 | g.47848825C>T | CA2665559770 | DHX30 | c.2769+8C>T (n.2769+8C>T) c.2685+8C>T (n.2685+8C>T) c.*2669+8C>T (n.*2669+8C>T) c.2853+8C>T (n.2853+8C>T) n.886+8C>T c.2652+8C>T (n.2652+8C>T) c.2673+8C>T (n.2673+8C>T) c.2982+8C>T (n.2982+8C>T) c.2871+8C>T (n.2871+8C>T) c.2901+8C>T (n.2901+8C>T) c.2658+8C>T (n.2658+8C>T) | gnomAD v4 |
| 3 | g.47848829C= | CA1362750463 | DHX30 | c.2769+12C= (n.2769+12C=) c.2685+12C= (n.2685+12C=) c.*2669+12C= (n.*2669+12C=) c.2853+12C= (n.2853+12C=) n.886+12C= c.2652+12C= (n.2652+12C=) c.2673+12C= (n.2673+12C=) c.2982+12C= (n.2982+12C=) c.2871+12C= (n.2871+12C=) c.2901+12C= (n.2901+12C=) c.2658+12C= (n.2658+12C=) | |
| 3 | g.47848829C>T | CA2370204 | DHX30 | c.2769+12C>T (n.2769+12C>T) c.2685+12C>T (n.2685+12C>T) c.*2669+12C>T (n.*2669+12C>T) c.2853+12C>T (n.2853+12C>T) n.886+12C>T c.2652+12C>T (n.2652+12C>T) c.2673+12C>T (n.2673+12C>T) c.2982+12C>T (n.2982+12C>T) c.2871+12C>T (n.2871+12C>T) c.2901+12C>T (n.2901+12C>T) c.2658+12C>T (n.2658+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848831C>T | CA2665559771 | DHX30 | c.2769+14C>T (n.2769+14C>T) c.2685+14C>T (n.2685+14C>T) c.*2669+14C>T (n.*2669+14C>T) c.2853+14C>T (n.2853+14C>T) n.886+14C>T c.2652+14C>T (n.2652+14C>T) c.2673+14C>T (n.2673+14C>T) c.2982+14C>T (n.2982+14C>T) c.2871+14C>T (n.2871+14C>T) c.2901+14C>T (n.2901+14C>T) c.2658+14C>T (n.2658+14C>T) | gnomAD v4 |
| 3 | g.47848832C= | CA1362750464 | DHX30 | c.2769+15C= (n.2769+15C=) c.2685+15C= (n.2685+15C=) c.*2669+15C= (n.*2669+15C=) c.2853+15C= (n.2853+15C=) n.886+15C= c.2652+15C= (n.2652+15C=) c.2673+15C= (n.2673+15C=) c.2982+15C= (n.2982+15C=) c.2871+15C= (n.2871+15C=) c.2901+15C= (n.2901+15C=) c.2658+15C= (n.2658+15C=) | |
| 3 | g.47848832C>T | CA543043909 | DHX30 | c.2769+15C>T (n.2769+15C>T) c.2685+15C>T (n.2685+15C>T) c.*2669+15C>T (n.*2669+15C>T) c.2853+15C>T (n.2853+15C>T) n.886+15C>T c.2652+15C>T (n.2652+15C>T) c.2673+15C>T (n.2673+15C>T) c.2982+15C>T (n.2982+15C>T) c.2871+15C>T (n.2871+15C>T) c.2901+15C>T (n.2901+15C>T) c.2658+15C>T (n.2658+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848833T>C | CA907718286 | DHX30 | c.2769+16T>C (n.2769+16T>C) c.2685+16T>C (n.2685+16T>C) c.*2669+16T>C (n.*2669+16T>C) c.2853+16T>C (n.2853+16T>C) n.886+16T>C c.2652+16T>C (n.2652+16T>C) c.2673+16T>C (n.2673+16T>C) c.2982+16T>C (n.2982+16T>C) c.2871+16T>C (n.2871+16T>C) c.2901+16T>C (n.2901+16T>C) c.2658+16T>C (n.2658+16T>C) | dbSNP gnomAD v4 |
| 3 | g.47848833T= | CA1362750465 | DHX30 | c.2769+16T= (n.2769+16T=) c.2685+16T= (n.2685+16T=) c.*2669+16T= (n.*2669+16T=) c.2853+16T= (n.2853+16T=) n.886+16T= c.2652+16T= (n.2652+16T=) c.2673+16T= (n.2673+16T=) c.2982+16T= (n.2982+16T=) c.2871+16T= (n.2871+16T=) c.2901+16T= (n.2901+16T=) c.2658+16T= (n.2658+16T=) | |
| 3 | g.47848834_47848835delinsTC | CA1362750466 | DHX30 | c.2769+17_2769+18delinsTC (n.2769+17_2769+18delinsTC) c.2685+17_2685+18delinsTC (n.2685+17_2685+18delinsTC) c.*2669+17_*2669+18delinsTC (n.*2669+17_*2669+18delinsTC) c.2853+17_2853+18delinsTC (n.2853+17_2853+18delinsTC) n.886+17_886+18delinsTC c.2652+17_2652+18delinsTC (n.2652+17_2652+18delinsTC) c.2673+17_2673+18delinsTC (n.2673+17_2673+18delinsTC) c.2982+17_2982+18delinsTC (n.2982+17_2982+18delinsTC) c.2871+17_2871+18delinsTC (n.2871+17_2871+18delinsTC) c.2901+17_2901+18delinsTC (n.2901+17_2901+18delinsTC) c.2658+17_2658+18delinsTC (n.2658+17_2658+18delinsTC) | |
| 3 | g.47848835C>T | CA2577582614 | DHX30 | c.2769+18C>T (n.2769+18C>T) c.2685+18C>T (n.2685+18C>T) c.*2669+18C>T (n.*2669+18C>T) c.2853+18C>T (n.2853+18C>T) n.886+18C>T c.2652+18C>T (n.2652+18C>T) c.2673+18C>T (n.2673+18C>T) c.2982+18C>T (n.2982+18C>T) c.2871+18C>T (n.2871+18C>T) c.2901+18C>T (n.2901+18C>T) c.2658+18C>T (n.2658+18C>T) | |
| 3 | g.47848836del | CA1362750467 | DHX30 | c.2769+19del (n.2769+19del) c.2685+19del (n.2685+19del) c.*2669+19del (n.*2669+19del) c.2853+19del (n.2853+19del) n.886+19del c.2652+19del (n.2652+19del) c.2673+19del (n.2673+19del) c.2982+19del (n.2982+19del) c.2871+19del (n.2871+19del) c.2901+19del (n.2901+19del) c.2658+19del (n.2658+19del) | dbSNP gnomAD v4 |
| 3 | g.47848836C>A | CA543043970 | DHX30 | c.2769+19C>A (n.2769+19C>A) c.2685+19C>A (n.2685+19C>A) c.*2669+19C>A (n.*2669+19C>A) c.2853+19C>A (n.2853+19C>A) n.886+19C>A c.2652+19C>A (n.2652+19C>A) c.2673+19C>A (n.2673+19C>A) c.2982+19C>A (n.2982+19C>A) c.2871+19C>A (n.2871+19C>A) c.2901+19C>A (n.2901+19C>A) c.2658+19C>A (n.2658+19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47848836C= | CA1362750468 | DHX30 | c.2769+19C= (n.2769+19C=) c.2685+19C= (n.2685+19C=) c.*2669+19C= (n.*2669+19C=) c.2853+19C= (n.2853+19C=) n.886+19C= c.2652+19C= (n.2652+19C=) c.2673+19C= (n.2673+19C=) c.2982+19C= (n.2982+19C=) c.2871+19C= (n.2871+19C=) c.2901+19C= (n.2901+19C=) c.2658+19C= (n.2658+19C=) | |
| 3 | g.47848836C>T | CA73899622 | DHX30 | c.2769+19C>T (n.2769+19C>T) c.2685+19C>T (n.2685+19C>T) c.*2669+19C>T (n.*2669+19C>T) c.2853+19C>T (n.2853+19C>T) n.886+19C>T c.2652+19C>T (n.2652+19C>T) c.2673+19C>T (n.2673+19C>T) c.2982+19C>T (n.2982+19C>T) c.2871+19C>T (n.2871+19C>T) c.2901+19C>T (n.2901+19C>T) c.2658+19C>T (n.2658+19C>T) | dbSNP |
| 3 | g.47848839_47848858del | CA2665559772 | DHX30 | c.2769+22_2769+41del (n.2769+22_2769+41del) c.2685+22_2685+41del (n.2685+22_2685+41del) c.*2669+22_*2669+41del (n.*2669+22_*2669+41del) c.2853+22_2853+41del (n.2853+22_2853+41del) n.886+22_886+41del c.2652+22_2652+41del (n.2652+22_2652+41del) c.2673+22_2673+41del (n.2673+22_2673+41del) c.2982+22_2982+41del (n.2982+22_2982+41del) c.2871+22_2871+41del (n.2871+22_2871+41del) c.2901+22_2901+41del (n.2901+22_2901+41del) c.2658+22_2658+41del (n.2658+22_2658+41del) | gnomAD v4 |
| 3 | g.47848837T>G | CA1362750470 | DHX30 | c.2769+20T>G (n.2769+20T>G) c.2685+20T>G (n.2685+20T>G) c.*2669+20T>G (n.*2669+20T>G) c.2853+20T>G (n.2853+20T>G) n.886+20T>G c.2652+20T>G (n.2652+20T>G) c.2673+20T>G (n.2673+20T>G) c.2982+20T>G (n.2982+20T>G) c.2871+20T>G (n.2871+20T>G) c.2901+20T>G (n.2901+20T>G) c.2658+20T>G (n.2658+20T>G) | dbSNP gnomAD v4 |
| 3 | g.47848837T= | CA1362750469 | DHX30 | c.2769+20T= (n.2769+20T=) c.2685+20T= (n.2685+20T=) c.*2669+20T= (n.*2669+20T=) c.2853+20T= (n.2853+20T=) n.886+20T= c.2652+20T= (n.2652+20T=) c.2673+20T= (n.2673+20T=) c.2982+20T= (n.2982+20T=) c.2871+20T= (n.2871+20T=) c.2901+20T= (n.2901+20T=) c.2658+20T= (n.2658+20T=) | |
| 3 | g.47848842C= | CA1362750471 | DHX30 | c.2769+25C= (n.2769+25C=) c.2685+25C= (n.2685+25C=) c.*2669+25C= (n.*2669+25C=) c.2853+25C= (n.2853+25C=) n.886+25C= c.2652+25C= (n.2652+25C=) c.2673+25C= (n.2673+25C=) c.2982+25C= (n.2982+25C=) c.2871+25C= (n.2871+25C=) c.2901+25C= (n.2901+25C=) c.2658+25C= (n.2658+25C=) | |
| 3 | g.47848842C>T | CA543043971 | DHX30 | c.2769+25C>T (n.2769+25C>T) c.2685+25C>T (n.2685+25C>T) c.*2669+25C>T (n.*2669+25C>T) c.2853+25C>T (n.2853+25C>T) n.886+25C>T c.2652+25C>T (n.2652+25C>T) c.2673+25C>T (n.2673+25C>T) c.2982+25C>T (n.2982+25C>T) c.2871+25C>T (n.2871+25C>T) c.2901+25C>T (n.2901+25C>T) c.2658+25C>T (n.2658+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848843del | CA2665559773 | DHX30 | c.2769+26del (n.2769+26del) c.2685+26del (n.2685+26del) c.*2669+26del (n.*2669+26del) c.2853+26del (n.2853+26del) n.886+26del c.2652+26del (n.2652+26del) c.2673+26del (n.2673+26del) c.2982+26del (n.2982+26del) c.2871+26del (n.2871+26del) c.2901+26del (n.2901+26del) c.2658+26del (n.2658+26del) | gnomAD v4 |
| 3 | g.47848843C= | CA1362750472 | DHX30 | c.2769+26C= (n.2769+26C=) c.2685+26C= (n.2685+26C=) c.*2669+26C= (n.*2669+26C=) c.2853+26C= (n.2853+26C=) n.886+26C= c.2652+26C= (n.2652+26C=) c.2673+26C= (n.2673+26C=) c.2982+26C= (n.2982+26C=) c.2871+26C= (n.2871+26C=) c.2901+26C= (n.2901+26C=) c.2658+26C= (n.2658+26C=) | |
| 3 | g.47848843C>T | CA2370205 | DHX30 | c.2769+26C>T (n.2769+26C>T) c.2685+26C>T (n.2685+26C>T) c.*2669+26C>T (n.*2669+26C>T) c.2853+26C>T (n.2853+26C>T) n.886+26C>T c.2652+26C>T (n.2652+26C>T) c.2673+26C>T (n.2673+26C>T) c.2982+26C>T (n.2982+26C>T) c.2871+26C>T (n.2871+26C>T) c.2901+26C>T (n.2901+26C>T) c.2658+26C>T (n.2658+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848844G>A | CA2370206 | DHX30 | c.2769+27G>A (n.2769+27G>A) c.2685+27G>A (n.2685+27G>A) c.*2669+27G>A (n.*2669+27G>A) c.2853+27G>A (n.2853+27G>A) n.886+27G>A c.2652+27G>A (n.2652+27G>A) c.2673+27G>A (n.2673+27G>A) c.2982+27G>A (n.2982+27G>A) c.2871+27G>A (n.2871+27G>A) c.2901+27G>A (n.2901+27G>A) c.2658+27G>A (n.2658+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848844G= | CA1362750473 | DHX30 | c.2769+27G= (n.2769+27G=) c.2685+27G= (n.2685+27G=) c.*2669+27G= (n.*2669+27G=) c.2853+27G= (n.2853+27G=) n.886+27G= c.2652+27G= (n.2652+27G=) c.2673+27G= (n.2673+27G=) c.2982+27G= (n.2982+27G=) c.2871+27G= (n.2871+27G=) c.2901+27G= (n.2901+27G=) c.2658+27G= (n.2658+27G=) | |
| 3 | g.47848845T>A | CA2665559774 | DHX30 | c.2769+28T>A (n.2769+28T>A) c.2685+28T>A (n.2685+28T>A) c.*2669+28T>A (n.*2669+28T>A) c.2853+28T>A (n.2853+28T>A) n.886+28T>A c.2652+28T>A (n.2652+28T>A) c.2673+28T>A (n.2673+28T>A) c.2982+28T>A (n.2982+28T>A) c.2871+28T>A (n.2871+28T>A) c.2901+28T>A (n.2901+28T>A) c.2658+28T>A (n.2658+28T>A) | gnomAD v4 |
| 3 | g.47848846C= | CA1362750474 | DHX30 | c.2769+29C= (n.2769+29C=) c.2685+29C= (n.2685+29C=) c.*2669+29C= (n.*2669+29C=) c.2853+29C= (n.2853+29C=) n.886+29C= c.2652+29C= (n.2652+29C=) c.2673+29C= (n.2673+29C=) c.2982+29C= (n.2982+29C=) c.2871+29C= (n.2871+29C=) c.2901+29C= (n.2901+29C=) c.2658+29C= (n.2658+29C=) | |
| 3 | g.47848846C>G | CA2665559775 | DHX30 | c.2769+29C>G (n.2769+29C>G) c.2685+29C>G (n.2685+29C>G) c.*2669+29C>G (n.*2669+29C>G) c.2853+29C>G (n.2853+29C>G) n.886+29C>G c.2652+29C>G (n.2652+29C>G) c.2673+29C>G (n.2673+29C>G) c.2982+29C>G (n.2982+29C>G) c.2871+29C>G (n.2871+29C>G) c.2901+29C>G (n.2901+29C>G) c.2658+29C>G (n.2658+29C>G) | gnomAD v4 |
| 3 | g.47848846C>T | CA2370207 | DHX30 | c.2769+29C>T (n.2769+29C>T) c.2685+29C>T (n.2685+29C>T) c.*2669+29C>T (n.*2669+29C>T) c.2853+29C>T (n.2853+29C>T) n.886+29C>T c.2652+29C>T (n.2652+29C>T) c.2673+29C>T (n.2673+29C>T) c.2982+29C>T (n.2982+29C>T) c.2871+29C>T (n.2871+29C>T) c.2901+29C>T (n.2901+29C>T) c.2658+29C>T (n.2658+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848847C= | CA1362750475 | DHX30 | c.2769+30C= (n.2769+30C=) c.2685+30C= (n.2685+30C=) c.*2669+30C= (n.*2669+30C=) c.2853+30C= (n.2853+30C=) n.886+30C= c.2652+30C= (n.2652+30C=) c.2673+30C= (n.2673+30C=) c.2982+30C= (n.2982+30C=) c.2871+30C= (n.2871+30C=) c.2901+30C= (n.2901+30C=) c.2658+30C= (n.2658+30C=) | |
| 3 | g.47848847C>T | CA1362750476 | DHX30 | c.2769+30C>T (n.2769+30C>T) c.2685+30C>T (n.2685+30C>T) c.*2669+30C>T (n.*2669+30C>T) c.2853+30C>T (n.2853+30C>T) n.886+30C>T c.2652+30C>T (n.2652+30C>T) c.2673+30C>T (n.2673+30C>T) c.2982+30C>T (n.2982+30C>T) c.2871+30C>T (n.2871+30C>T) c.2901+30C>T (n.2901+30C>T) c.2658+30C>T (n.2658+30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848849C>A | CA2665559776 | DHX30 | c.2769+32C>A (n.2769+32C>A) c.2685+32C>A (n.2685+32C>A) c.*2669+32C>A (n.*2669+32C>A) c.2853+32C>A (n.2853+32C>A) n.886+32C>A c.2652+32C>A (n.2652+32C>A) c.2673+32C>A (n.2673+32C>A) c.2982+32C>A (n.2982+32C>A) c.2871+32C>A (n.2871+32C>A) c.2901+32C>A (n.2901+32C>A) c.2658+32C>A (n.2658+32C>A) | gnomAD v4 |
| 3 | g.47848849C>G | CA2665559777 | DHX30 | c.2769+32C>G (n.2769+32C>G) c.2685+32C>G (n.2685+32C>G) c.*2669+32C>G (n.*2669+32C>G) c.2853+32C>G (n.2853+32C>G) n.886+32C>G c.2652+32C>G (n.2652+32C>G) c.2673+32C>G (n.2673+32C>G) c.2982+32C>G (n.2982+32C>G) c.2871+32C>G (n.2871+32C>G) c.2901+32C>G (n.2901+32C>G) c.2658+32C>G (n.2658+32C>G) | gnomAD v4 |
| 3 | g.47848850C>A | CA2665559778 | DHX30 | c.2769+33C>A (n.2769+33C>A) c.2685+33C>A (n.2685+33C>A) c.*2669+33C>A (n.*2669+33C>A) c.2853+33C>A (n.2853+33C>A) n.886+33C>A c.2652+33C>A (n.2652+33C>A) c.2673+33C>A (n.2673+33C>A) c.2982+33C>A (n.2982+33C>A) c.2871+33C>A (n.2871+33C>A) c.2901+33C>A (n.2901+33C>A) c.2658+33C>A (n.2658+33C>A) | gnomAD v4 |
| 3 | g.47848850C>G | CA2756137552 | DHX30 | c.2769+33C>G (n.2769+33C>G) c.2685+33C>G (n.2685+33C>G) c.*2669+33C>G (n.*2669+33C>G) c.2853+33C>G (n.2853+33C>G) n.886+33C>G c.2652+33C>G (n.2652+33C>G) c.2673+33C>G (n.2673+33C>G) c.2982+33C>G (n.2982+33C>G) c.2871+33C>G (n.2871+33C>G) c.2901+33C>G (n.2901+33C>G) c.2658+33C>G (n.2658+33C>G) | |
| 3 | g.47848850C>T | CA2665559779 | DHX30 | c.2769+33C>T (n.2769+33C>T) c.2685+33C>T (n.2685+33C>T) c.*2669+33C>T (n.*2669+33C>T) c.2853+33C>T (n.2853+33C>T) n.886+33C>T c.2652+33C>T (n.2652+33C>T) c.2673+33C>T (n.2673+33C>T) c.2982+33C>T (n.2982+33C>T) c.2871+33C>T (n.2871+33C>T) c.2901+33C>T (n.2901+33C>T) c.2658+33C>T (n.2658+33C>T) | gnomAD v4 |
| 3 | g.47848852A= | CA1362750477 | DHX30 | c.2769+35A= (n.2769+35A=) c.2685+35A= (n.2685+35A=) c.*2669+35A= (n.*2669+35A=) c.2853+35A= (n.2853+35A=) n.886+35A= c.2652+35A= (n.2652+35A=) c.2673+35A= (n.2673+35A=) c.2982+35A= (n.2982+35A=) c.2871+35A= (n.2871+35A=) c.2901+35A= (n.2901+35A=) c.2658+35A= (n.2658+35A=) | |
| 3 | g.47848852A>C | CA543043972 | DHX30 | c.2769+35A>C (n.2769+35A>C) c.2685+35A>C (n.2685+35A>C) c.*2669+35A>C (n.*2669+35A>C) c.2853+35A>C (n.2853+35A>C) n.886+35A>C c.2652+35A>C (n.2652+35A>C) c.2673+35A>C (n.2673+35A>C) c.2982+35A>C (n.2982+35A>C) c.2871+35A>C (n.2871+35A>C) c.2901+35A>C (n.2901+35A>C) c.2658+35A>C (n.2658+35A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47848853C= | CA1362750478 | DHX30 | c.2769+36C= (n.2769+36C=) c.2685+36C= (n.2685+36C=) c.*2669+36C= (n.*2669+36C=) c.2853+36C= (n.2853+36C=) n.886+36C= c.2652+36C= (n.2652+36C=) c.2673+36C= (n.2673+36C=) c.2982+36C= (n.2982+36C=) c.2871+36C= (n.2871+36C=) c.2901+36C= (n.2901+36C=) c.2658+36C= (n.2658+36C=) | |
| 3 | g.47848853C>T | CA543043973 | DHX30 | c.2769+36C>T (n.2769+36C>T) c.2685+36C>T (n.2685+36C>T) c.*2669+36C>T (n.*2669+36C>T) c.2853+36C>T (n.2853+36C>T) n.886+36C>T c.2652+36C>T (n.2652+36C>T) c.2673+36C>T (n.2673+36C>T) c.2982+36C>T (n.2982+36C>T) c.2871+36C>T (n.2871+36C>T) c.2901+36C>T (n.2901+36C>T) c.2658+36C>T (n.2658+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47848854dup | CA2577582615 | DHX30 | c.2769+37dup (n.2769+37dup) c.2685+37dup (n.2685+37dup) c.*2669+37dup (n.*2669+37dup) c.2853+37dup (n.2853+37dup) n.886+37dup c.2652+37dup (n.2652+37dup) c.2673+37dup (n.2673+37dup) c.2982+37dup (n.2982+37dup) c.2871+37dup (n.2871+37dup) c.2901+37dup (n.2901+37dup) c.2658+37dup (n.2658+37dup) | |
| 3 | g.47848855G>A | CA73899643 | DHX30 | c.2769+38G>A (n.2769+38G>A) c.2685+38G>A (n.2685+38G>A) c.*2669+38G>A (n.*2669+38G>A) c.2853+38G>A (n.2853+38G>A) n.886+38G>A c.2652+38G>A (n.2652+38G>A) c.2673+38G>A (n.2673+38G>A) c.2982+38G>A (n.2982+38G>A) c.2871+38G>A (n.2871+38G>A) c.2901+38G>A (n.2901+38G>A) c.2658+38G>A (n.2658+38G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848855G= | CA1362750479 | DHX30 | c.2769+38G= (n.2769+38G=) c.2685+38G= (n.2685+38G=) c.*2669+38G= (n.*2669+38G=) c.2853+38G= (n.2853+38G=) n.886+38G= c.2652+38G= (n.2652+38G=) c.2673+38G= (n.2673+38G=) c.2982+38G= (n.2982+38G=) c.2871+38G= (n.2871+38G=) c.2901+38G= (n.2901+38G=) c.2658+38G= (n.2658+38G=) | |
| 3 | g.47848856C>A | CA2370208 | DHX30 | c.2769+39C>A (n.2769+39C>A) c.2685+39C>A (n.2685+39C>A) c.*2669+39C>A (n.*2669+39C>A) c.2853+39C>A (n.2853+39C>A) n.886+39C>A c.2652+39C>A (n.2652+39C>A) c.2673+39C>A (n.2673+39C>A) c.2982+39C>A (n.2982+39C>A) c.2871+39C>A (n.2871+39C>A) c.2901+39C>A (n.2901+39C>A) c.2658+39C>A (n.2658+39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848856C= | CA1362750480 | DHX30 | c.2769+39C= (n.2769+39C=) c.2685+39C= (n.2685+39C=) c.*2669+39C= (n.*2669+39C=) c.2853+39C= (n.2853+39C=) n.886+39C= c.2652+39C= (n.2652+39C=) c.2673+39C= (n.2673+39C=) c.2982+39C= (n.2982+39C=) c.2871+39C= (n.2871+39C=) c.2901+39C= (n.2901+39C=) c.2658+39C= (n.2658+39C=) | |
| 3 | g.47848857T>G | CA2577582616 | DHX30 | c.2769+40T>G (n.2769+40T>G) c.2685+40T>G (n.2685+40T>G) c.*2669+40T>G (n.*2669+40T>G) c.2853+40T>G (n.2853+40T>G) n.886+40T>G c.2652+40T>G (n.2652+40T>G) c.2673+40T>G (n.2673+40T>G) c.2982+40T>G (n.2982+40T>G) c.2871+40T>G (n.2871+40T>G) c.2901+40T>G (n.2901+40T>G) c.2658+40T>G (n.2658+40T>G) | |
| 3 | g.47848858G>A | CA2370209 | DHX30 | c.2769+41G>A (n.2769+41G>A) c.2685+41G>A (n.2685+41G>A) c.*2669+41G>A (n.*2669+41G>A) c.2853+41G>A (n.2853+41G>A) n.886+41G>A c.2652+41G>A (n.2652+41G>A) c.2673+41G>A (n.2673+41G>A) c.2982+41G>A (n.2982+41G>A) c.2871+41G>A (n.2871+41G>A) c.2901+41G>A (n.2901+41G>A) c.2658+41G>A (n.2658+41G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.47848858G>C | CA73899657 | DHX30 | c.2769+41G>C (n.2769+41G>C) c.2685+41G>C (n.2685+41G>C) c.*2669+41G>C (n.*2669+41G>C) c.2853+41G>C (n.2853+41G>C) n.886+41G>C c.2652+41G>C (n.2652+41G>C) c.2673+41G>C (n.2673+41G>C) c.2982+41G>C (n.2982+41G>C) c.2871+41G>C (n.2871+41G>C) c.2901+41G>C (n.2901+41G>C) c.2658+41G>C (n.2658+41G>C) | dbSNP gnomAD v4 |
| 3 | g.47848858G= | CA1362750481 | DHX30 | c.2769+41G= (n.2769+41G=) c.2685+41G= (n.2685+41G=) c.*2669+41G= (n.*2669+41G=) c.2853+41G= (n.2853+41G=) n.886+41G= c.2652+41G= (n.2652+41G=) c.2673+41G= (n.2673+41G=) c.2982+41G= (n.2982+41G=) c.2871+41G= (n.2871+41G=) c.2901+41G= (n.2901+41G=) c.2658+41G= (n.2658+41G=) | |
| 3 | g.47848859_47848861delinsTTC | CA1362750482 | DHX30 | c.2769+42_2769+44delinsTTC (n.2769+42_2769+44delinsTTC) c.2685+42_2685+44delinsTTC (n.2685+42_2685+44delinsTTC) c.*2669+42_*2669+44delinsTTC (n.*2669+42_*2669+44delinsTTC) c.2853+42_2853+44delinsTTC (n.2853+42_2853+44delinsTTC) n.886+42_886+44delinsTTC c.2652+42_2652+44delinsTTC (n.2652+42_2652+44delinsTTC) c.2673+42_2673+44delinsTTC (n.2673+42_2673+44delinsTTC) c.2982+42_2982+44delinsTTC (n.2982+42_2982+44delinsTTC) c.2871+42_2871+44delinsTTC (n.2871+42_2871+44delinsTTC) c.2901+42_2901+44delinsTTC (n.2901+42_2901+44delinsTTC) c.2658+42_2658+44delinsTTC (n.2658+42_2658+44delinsTTC) | |
| 3 | g.47848860T>A | CA2577582617 | DHX30 | c.2769+43T>A (n.2769+43T>A) c.2685+43T>A (n.2685+43T>A) c.*2669+43T>A (n.*2669+43T>A) c.2853+43T>A (n.2853+43T>A) n.886+43T>A c.2652+43T>A (n.2652+43T>A) c.2673+43T>A (n.2673+43T>A) c.2982+43T>A (n.2982+43T>A) c.2871+43T>A (n.2871+43T>A) c.2901+43T>A (n.2901+43T>A) c.2658+43T>A (n.2658+43T>A) | |
| 3 | g.47848861_47848862del | CA2370210 | DHX30 | c.2769+44_2769+45del (n.2769+44_2769+45del) c.2685+44_2685+45del (n.2685+44_2685+45del) c.*2669+44_*2669+45del (n.*2669+44_*2669+45del) c.2853+44_2853+45del (n.2853+44_2853+45del) n.886+44_886+45del c.2652+44_2652+45del (n.2652+44_2652+45del) c.2673+44_2673+45del (n.2673+44_2673+45del) c.2982+44_2982+45del (n.2982+44_2982+45del) c.2871+44_2871+45del (n.2871+44_2871+45del) c.2901+44_2901+45del (n.2901+44_2901+45del) c.2658+44_2658+45del (n.2658+44_2658+45del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848861C= | CA1362750483 | DHX30 | c.2769+44C= (n.2769+44C=) c.2685+44C= (n.2685+44C=) c.*2669+44C= (n.*2669+44C=) c.2853+44C= (n.2853+44C=) n.886+44C= c.2652+44C= (n.2652+44C=) c.2673+44C= (n.2673+44C=) c.2982+44C= (n.2982+44C=) c.2871+44C= (n.2871+44C=) c.2901+44C= (n.2901+44C=) c.2658+44C= (n.2658+44C=) | |
| 3 | g.47848861C>G | CA543043974 | DHX30 | c.2769+44C>G (n.2769+44C>G) c.2685+44C>G (n.2685+44C>G) c.*2669+44C>G (n.*2669+44C>G) c.2853+44C>G (n.2853+44C>G) n.886+44C>G c.2652+44C>G (n.2652+44C>G) c.2673+44C>G (n.2673+44C>G) c.2982+44C>G (n.2982+44C>G) c.2871+44C>G (n.2871+44C>G) c.2901+44C>G (n.2901+44C>G) c.2658+44C>G (n.2658+44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47848861C>T | CA1047622831 | DHX30 | c.2769+44C>T (n.2769+44C>T) c.2685+44C>T (n.2685+44C>T) c.*2669+44C>T (n.*2669+44C>T) c.2853+44C>T (n.2853+44C>T) n.886+44C>T c.2652+44C>T (n.2652+44C>T) c.2673+44C>T (n.2673+44C>T) c.2982+44C>T (n.2982+44C>T) c.2871+44C>T (n.2871+44C>T) c.2901+44C>T (n.2901+44C>T) c.2658+44C>T (n.2658+44C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848862T>C | CA907718305 | DHX30 | c.2769+45T>C (n.2769+45T>C) c.2685+45T>C (n.2685+45T>C) c.*2669+45T>C (n.*2669+45T>C) c.2853+45T>C (n.2853+45T>C) n.886+45T>C c.2652+45T>C (n.2652+45T>C) c.2673+45T>C (n.2673+45T>C) c.2982+45T>C (n.2982+45T>C) c.2871+45T>C (n.2871+45T>C) c.2901+45T>C (n.2901+45T>C) c.2658+45T>C (n.2658+45T>C) | dbSNP |
| 3 | g.47848862T>G | CA2370211 | DHX30 | c.2769+45T>G (n.2769+45T>G) c.2685+45T>G (n.2685+45T>G) c.*2669+45T>G (n.*2669+45T>G) c.2853+45T>G (n.2853+45T>G) n.886+45T>G c.2652+45T>G (n.2652+45T>G) c.2673+45T>G (n.2673+45T>G) c.2982+45T>G (n.2982+45T>G) c.2871+45T>G (n.2871+45T>G) c.2901+45T>G (n.2901+45T>G) c.2658+45T>G (n.2658+45T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47848862T= | CA1362750484 | DHX30 | c.2769+45T= (n.2769+45T=) c.2685+45T= (n.2685+45T=) c.*2669+45T= (n.*2669+45T=) c.2853+45T= (n.2853+45T=) n.886+45T= c.2652+45T= (n.2652+45T=) c.2673+45T= (n.2673+45T=) c.2982+45T= (n.2982+45T=) c.2871+45T= (n.2871+45T=) c.2901+45T= (n.2901+45T=) c.2658+45T= (n.2658+45T=) | |
| 3 | g.47848863G>A | CA2665559780 | DHX30 | c.2769+46G>A (n.2769+46G>A) c.2685+46G>A (n.2685+46G>A) c.*2669+46G>A (n.*2669+46G>A) c.2853+46G>A (n.2853+46G>A) n.886+46G>A c.2652+46G>A (n.2652+46G>A) c.2673+46G>A (n.2673+46G>A) c.2982+46G>A (n.2982+46G>A) c.2871+46G>A (n.2871+46G>A) c.2901+46G>A (n.2901+46G>A) c.2658+46G>A (n.2658+46G>A) | gnomAD v4 |
| 3 | g.47848865G= | CA1362750485 | DHX30 | c.2769+48G= (n.2769+48G=) c.2685+48G= (n.2685+48G=) c.*2669+48G= (n.*2669+48G=) c.2853+48G= (n.2853+48G=) n.886+48G= c.2652+48G= (n.2652+48G=) c.2673+48G= (n.2673+48G=) c.2982+48G= (n.2982+48G=) c.2871+48G= (n.2871+48G=) c.2901+48G= (n.2901+48G=) c.2658+48G= (n.2658+48G=) | |
| 3 | g.47848865G>T | CA73899665 | DHX30 | c.2769+48G>T (n.2769+48G>T) c.2685+48G>T (n.2685+48G>T) c.*2669+48G>T (n.*2669+48G>T) c.2853+48G>T (n.2853+48G>T) n.886+48G>T c.2652+48G>T (n.2652+48G>T) c.2673+48G>T (n.2673+48G>T) c.2982+48G>T (n.2982+48G>T) c.2871+48G>T (n.2871+48G>T) c.2901+48G>T (n.2901+48G>T) c.2658+48G>T (n.2658+48G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848869dup | CA2665559781 | DHX30 | c.2770-51dup (n.2770-51dup) c.2686-51dup (n.2686-51dup) c.*2670-51dup (n.*2670-51dup) c.2854-51dup (n.2854-51dup) n.887-51dup c.2653-51dup (n.2653-51dup) c.2674-51dup (n.2674-51dup) c.2983-51dup (n.2983-51dup) c.2872-51dup (n.2872-51dup) c.2902-51dup (n.2902-51dup) c.2659-51dup (n.2659-51dup) | gnomAD v4 |
| 3 | g.47848866G>A | CA2370212 | DHX30 | c.2769+49G>A (n.2769+49G>A) c.2685+49G>A (n.2685+49G>A) c.*2669+49G>A (n.*2669+49G>A) c.2853+49G>A (n.2853+49G>A) n.886+49G>A c.2652+49G>A (n.2652+49G>A) c.2673+49G>A (n.2673+49G>A) c.2982+49G>A (n.2982+49G>A) c.2871+49G>A (n.2871+49G>A) c.2901+49G>A (n.2901+49G>A) c.2658+49G>A (n.2658+49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848866G= | CA1362750487 | DHX30 | c.2769+49G= (n.2769+49G=) c.2685+49G= (n.2685+49G=) c.*2669+49G= (n.*2669+49G=) c.2853+49G= (n.2853+49G=) n.886+49G= c.2652+49G= (n.2652+49G=) c.2673+49G= (n.2673+49G=) c.2982+49G= (n.2982+49G=) c.2871+49G= (n.2871+49G=) c.2901+49G= (n.2901+49G=) c.2658+49G= (n.2658+49G=) | |
| 3 | g.47848866G>T | CA1362750486 | DHX30 | c.2769+49G>T (n.2769+49G>T) c.2685+49G>T (n.2685+49G>T) c.*2669+49G>T (n.*2669+49G>T) c.2853+49G>T (n.2853+49G>T) n.886+49G>T c.2652+49G>T (n.2652+49G>T) c.2673+49G>T (n.2673+49G>T) c.2982+49G>T (n.2982+49G>T) c.2871+49G>T (n.2871+49G>T) c.2901+49G>T (n.2901+49G>T) c.2658+49G>T (n.2658+49G>T) | dbSNP |
| 3 | g.47848867G>A | CA2370213 | DHX30 | c.2769+50G>A (n.2769+50G>A) c.2685+50G>A (n.2685+50G>A) c.*2669+50G>A (n.*2669+50G>A) c.2853+50G>A (n.2853+50G>A) n.886+50G>A c.2652+50G>A (n.2652+50G>A) c.2673+50G>A (n.2673+50G>A) c.2982+50G>A (n.2982+50G>A) c.2871+50G>A (n.2871+50G>A) c.2901+50G>A (n.2901+50G>A) c.2658+50G>A (n.2658+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848867G= | CA1362750488 | DHX30 | c.2769+50G= (n.2769+50G=) c.2685+50G= (n.2685+50G=) c.*2669+50G= (n.*2669+50G=) c.2853+50G= (n.2853+50G=) n.886+50G= c.2652+50G= (n.2652+50G=) c.2673+50G= (n.2673+50G=) c.2982+50G= (n.2982+50G=) c.2871+50G= (n.2871+50G=) c.2901+50G= (n.2901+50G=) c.2658+50G= (n.2658+50G=) | |
| 3 | g.47848868G>T | CA2665559782 | DHX30 | c.2770-52G>T (n.2770-52G>T) c.2686-52G>T (n.2686-52G>T) c.*2670-52G>T (n.*2670-52G>T) c.2854-52G>T (n.2854-52G>T) n.887-52G>T c.2653-52G>T (n.2653-52G>T) c.2674-52G>T (n.2674-52G>T) c.2983-52G>T (n.2983-52G>T) c.2872-52G>T (n.2872-52G>T) c.2902-52G>T (n.2902-52G>T) c.2659-52G>T (n.2659-52G>T) | gnomAD v4 |
| 3 | g.47848869G>T | CA2665559783 | DHX30 | c.2770-51G>T (n.2770-51G>T) c.2686-51G>T (n.2686-51G>T) c.*2670-51G>T (n.*2670-51G>T) c.2854-51G>T (n.2854-51G>T) n.887-51G>T c.2653-51G>T (n.2653-51G>T) c.2674-51G>T (n.2674-51G>T) c.2983-51G>T (n.2983-51G>T) c.2872-51G>T (n.2872-51G>T) c.2902-51G>T (n.2902-51G>T) c.2659-51G>T (n.2659-51G>T) | gnomAD v4 |
| 3 | g.47848870C>A | CA2577582618 | DHX30 | c.2770-50C>A (n.2770-50C>A) c.2686-50C>A (n.2686-50C>A) c.*2670-50C>A (n.*2670-50C>A) c.2854-50C>A (n.2854-50C>A) n.887-50C>A c.2653-50C>A (n.2653-50C>A) c.2674-50C>A (n.2674-50C>A) c.2983-50C>A (n.2983-50C>A) c.2872-50C>A (n.2872-50C>A) c.2902-50C>A (n.2902-50C>A) c.2659-50C>A (n.2659-50C>A) | gnomAD v4 |
| 3 | g.47848870C= | CA1362750489 | DHX30 | c.2770-50C= (n.2770-50C=) c.2686-50C= (n.2686-50C=) c.*2670-50C= (n.*2670-50C=) c.2854-50C= (n.2854-50C=) n.887-50C= c.2653-50C= (n.2653-50C=) c.2674-50C= (n.2674-50C=) c.2983-50C= (n.2983-50C=) c.2872-50C= (n.2872-50C=) c.2902-50C= (n.2902-50C=) c.2659-50C= (n.2659-50C=) | |
| 3 | g.47848870C>T | CA2370214 | DHX30 | c.2770-50C>T (n.2770-50C>T) c.2686-50C>T (n.2686-50C>T) c.*2670-50C>T (n.*2670-50C>T) c.2854-50C>T (n.2854-50C>T) n.887-50C>T c.2653-50C>T (n.2653-50C>T) c.2674-50C>T (n.2674-50C>T) c.2983-50C>T (n.2983-50C>T) c.2872-50C>T (n.2872-50C>T) c.2902-50C>T (n.2902-50C>T) c.2659-50C>T (n.2659-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848871G>A | CA2370215 | DHX30 | c.2770-49G>A (n.2770-49G>A) c.2686-49G>A (n.2686-49G>A) c.*2670-49G>A (n.*2670-49G>A) c.2854-49G>A (n.2854-49G>A) n.887-49G>A c.2653-49G>A (n.2653-49G>A) c.2674-49G>A (n.2674-49G>A) c.2983-49G>A (n.2983-49G>A) c.2872-49G>A (n.2872-49G>A) c.2902-49G>A (n.2902-49G>A) c.2659-49G>A (n.2659-49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47848871G>C | CA73899669 | DHX30 | c.2770-49G>C (n.2770-49G>C) c.2686-49G>C (n.2686-49G>C) c.*2670-49G>C (n.*2670-49G>C) c.2854-49G>C (n.2854-49G>C) n.887-49G>C c.2653-49G>C (n.2653-49G>C) c.2674-49G>C (n.2674-49G>C) c.2983-49G>C (n.2983-49G>C) c.2872-49G>C (n.2872-49G>C) c.2902-49G>C (n.2902-49G>C) c.2659-49G>C (n.2659-49G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47848871G= | CA1362750490 | DHX30 | c.2770-49G= (n.2770-49G=) c.2686-49G= (n.2686-49G=) c.*2670-49G= (n.*2670-49G=) c.2854-49G= (n.2854-49G=) n.887-49G= c.2653-49G= (n.2653-49G=) c.2674-49G= (n.2674-49G=) c.2983-49G= (n.2983-49G=) c.2872-49G= (n.2872-49G=) c.2902-49G= (n.2902-49G=) c.2659-49G= (n.2659-49G=) |