WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6592444A= | CA2014148515 | CHD4 | c.2858T= (p.Met953=) n.123T= c.2897T= (p.Met966=) c.2888T= (p.Met963=) c.2823T= c.2837T= (p.Met946=) c.2876T= (p.Met959=) c.1614T= c.2864T= (p.Met955=) c.755T= (p.Met252=) n.852T= n.2477T= c.1825T= c.898T= n.22T= n.164T= | |
| 12 | g.6592444A>C | CA383587759 | CHD4 | c.2858T>G (p.Met953Arg) n.123T>G c.2897T>G (p.Met966Arg) c.2888T>G (p.Met963Arg) c.2823T>G c.2837T>G (p.Met946Arg) c.2876T>G (p.Met959Arg) c.1614T>G c.2864T>G (p.Met955Arg) c.755T>G (p.Met252Arg) n.852T>G n.2477T>G c.1825T>G c.898T>G n.22T>G n.164T>G | |
| 12 | g.6592444A>G | CA383587766 | CHD4 | c.2858T>C (p.Met953Thr) n.123T>C c.2897T>C (p.Met966Thr) c.2888T>C (p.Met963Thr) c.2823T>C c.2837T>C (p.Met946Thr) c.2876T>C (p.Met959Thr) c.1614T>C c.2864T>C (p.Met955Thr) c.755T>C (p.Met252Thr) n.852T>C n.2477T>C c.1825T>C c.898T>C n.22T>C n.164T>C | |
| 12 | g.6592444A>T | CA16606376 | CHD4 | c.2858T>A (p.Met953Lys) n.123T>A c.2897T>A (p.Met966Lys) c.2888T>A (p.Met963Lys) c.2823T>A c.2837T>A (p.Met946Lys) c.2876T>A (p.Met959Lys) c.1614T>A c.2864T>A (p.Met955Lys) c.755T>A (p.Met252Lys) n.852T>A n.2477T>A c.1825T>A c.898T>A n.22T>A n.164T>A | ClinVar dbSNP |
| 12 | g.6592445T>A | CA383587775 | CHD4 | c.2857A>T (p.Met953Leu) n.122A>T c.2896A>T (p.Met966Leu) c.2887A>T (p.Met963Leu) c.2822A>T c.2836A>T (p.Met946Leu) c.2875A>T (p.Met959Leu) c.1613A>T c.2863A>T (p.Met955Leu) c.754A>T (p.Met252Leu) n.851A>T n.2476A>T c.1824A>T c.897A>T n.21A>T n.163A>T | |
| 12 | g.6592445T>C | CA383587770 | CHD4 | c.2857A>G (p.Met953Val) n.122A>G c.2896A>G (p.Met966Val) c.2887A>G (p.Met963Val) c.2822A>G c.2836A>G (p.Met946Val) c.2875A>G (p.Met959Val) c.1613A>G c.2863A>G (p.Met955Val) c.754A>G (p.Met252Val) n.851A>G n.2476A>G c.1824A>G c.897A>G n.21A>G n.163A>G | |
| 12 | g.6592445T>G | CA383587772 | CHD4 | c.2857A>C (p.Met953Leu) n.122A>C c.2896A>C (p.Met966Leu) c.2887A>C (p.Met963Leu) c.2822A>C c.2836A>C (p.Met946Leu) c.2875A>C (p.Met959Leu) c.1613A>C c.2863A>C (p.Met955Leu) c.754A>C (p.Met252Leu) n.851A>C n.2476A>C c.1824A>C c.897A>C n.21A>C n.163A>C | |
| 12 | g.6592446G>A | CA478511189 | CHD4 | c.2856C>T (p.Asn952=) n.121C>T c.2895C>T (p.Asn965=) c.2886C>T (p.Asn962=) c.2821C>T c.2835C>T (p.Asn945=) c.2874C>T (p.Asn958=) c.1612C>T c.2862C>T (p.Asn954=) c.753C>T (p.Asn251=) n.850C>T n.2475C>T c.1823C>T c.896C>T n.20C>T n.162C>T | |
| 12 | g.6592446G>C | CA383587777 | CHD4 | c.2856C>G (p.Asn952Lys) n.121C>G c.2895C>G (p.Asn965Lys) c.2886C>G (p.Asn962Lys) c.2821C>G c.2835C>G (p.Asn945Lys) c.2874C>G (p.Asn958Lys) c.1612C>G c.2862C>G (p.Asn954Lys) c.753C>G (p.Asn251Lys) n.850C>G n.2475C>G c.1823C>G c.896C>G n.20C>G n.162C>G | |
| 12 | g.6592446G>T | CA383587779 | CHD4 | c.2856C>A (p.Asn952Lys) n.121C>A c.2895C>A (p.Asn965Lys) c.2886C>A (p.Asn962Lys) c.2821C>A c.2835C>A (p.Asn945Lys) c.2874C>A (p.Asn958Lys) c.1612C>A c.2862C>A (p.Asn954Lys) c.753C>A (p.Asn251Lys) n.850C>A n.2475C>A c.1823C>A c.896C>A n.20C>A n.162C>A | |
| 12 | g.6592447T>A | CA383587781 | CHD4 | c.2855A>T (p.Asn952Ile) n.120A>T c.2894A>T (p.Asn965Ile) c.2885A>T (p.Asn962Ile) c.2820A>T c.2834A>T (p.Asn945Ile) c.2873A>T (p.Asn958Ile) c.1611A>T c.2861A>T (p.Asn954Ile) c.752A>T (p.Asn251Ile) n.849A>T n.2474A>T c.1822A>T c.895A>T n.19A>T n.161A>T | |
| 12 | g.6592447T>C | CA383587784 | CHD4 | c.2855A>G (p.Asn952Ser) n.120A>G c.2894A>G (p.Asn965Ser) c.2885A>G (p.Asn962Ser) c.2820A>G c.2834A>G (p.Asn945Ser) c.2873A>G (p.Asn958Ser) c.1611A>G c.2861A>G (p.Asn954Ser) c.752A>G (p.Asn251Ser) n.849A>G n.2474A>G c.1822A>G c.895A>G n.19A>G n.161A>G | |
| 12 | g.6592447T>G | CA383587786 | CHD4 | c.2855A>C (p.Asn952Thr) n.120A>C c.2894A>C (p.Asn965Thr) c.2885A>C (p.Asn962Thr) c.2820A>C c.2834A>C (p.Asn945Thr) c.2873A>C (p.Asn958Thr) c.1611A>C c.2861A>C (p.Asn954Thr) c.752A>C (p.Asn251Thr) n.849A>C n.2474A>C c.1822A>C c.895A>C n.19A>C n.161A>C | |
| 12 | g.6592448T>A | CA383587790 | CHD4 | c.2854A>T (p.Asn952Tyr) n.119A>T c.2893A>T (p.Asn965Tyr) c.2884A>T (p.Asn962Tyr) c.2819A>T c.2833A>T (p.Asn945Tyr) c.2872A>T (p.Asn958Tyr) c.1610A>T c.2860A>T (p.Asn954Tyr) c.751A>T (p.Asn251Tyr) n.848A>T n.2473A>T c.1821A>T c.894A>T n.18A>T n.160A>T | |
| 12 | g.6592448T>C | CA383587794 | CHD4 | c.2854A>G (p.Asn952Asp) n.119A>G c.2893A>G (p.Asn965Asp) c.2884A>G (p.Asn962Asp) c.2819A>G c.2833A>G (p.Asn945Asp) c.2872A>G (p.Asn958Asp) c.1610A>G c.2860A>G (p.Asn954Asp) c.751A>G (p.Asn251Asp) n.848A>G n.2473A>G c.1821A>G c.894A>G n.18A>G n.160A>G | |
| 12 | g.6592448T>G | CA383587804 | CHD4 | c.2854A>C (p.Asn952His) n.119A>C c.2893A>C (p.Asn965His) c.2884A>C (p.Asn962His) c.2819A>C c.2833A>C (p.Asn945His) c.2872A>C (p.Asn958His) c.1610A>C c.2860A>C (p.Asn954His) c.751A>C (p.Asn251His) n.848A>C n.2473A>C c.1821A>C c.894A>C n.18A>C n.160A>C | |
| 12 | g.6592449C>A | CA383587805 | CHD4 | c.2853G>T (p.Lys951Asn) n.118G>T c.2892G>T (p.Lys964Asn) c.2883G>T (p.Lys961Asn) c.2818G>T c.2832G>T (p.Lys944Asn) c.2871G>T (p.Lys957Asn) c.1609G>T c.2859G>T (p.Lys953Asn) c.750G>T (p.Lys250Asn) n.847G>T n.2472G>T c.1820G>T c.893G>T n.17G>T n.159G>T | ClinVar dbSNP |
| 12 | g.6592449C>G | CA383587806 | CHD4 | c.2853G>C (p.Lys951Asn) n.118G>C c.2892G>C (p.Lys964Asn) c.2883G>C (p.Lys961Asn) c.2818G>C c.2832G>C (p.Lys944Asn) c.2871G>C (p.Lys957Asn) c.1609G>C c.2859G>C (p.Lys953Asn) c.750G>C (p.Lys250Asn) n.847G>C n.2472G>C c.1820G>C c.893G>C n.17G>C n.159G>C | gnomAD v4 |
| 12 | g.6592449C>T | CA478511190 | CHD4 | c.2853G>A (p.Lys951=) n.118G>A c.2892G>A (p.Lys964=) c.2883G>A (p.Lys961=) c.2818G>A c.2832G>A (p.Lys944=) c.2871G>A (p.Lys957=) c.1609G>A c.2859G>A (p.Lys953=) c.750G>A (p.Lys250=) n.847G>A n.2472G>A c.1820G>A c.893G>A n.17G>A n.159G>A | |
| 12 | g.6592450T>A | CA383587809 | CHD4 | c.2852A>T (p.Lys951Met) n.117A>T c.2891A>T (p.Lys964Met) c.2882A>T (p.Lys961Met) c.2817A>T c.2831A>T (p.Lys944Met) c.2870A>T (p.Lys957Met) c.1608A>T c.2858A>T (p.Lys953Met) c.749A>T (p.Lys250Met) n.846A>T n.2471A>T c.1819A>T c.892A>T n.16A>T n.158A>T | |
| 12 | g.6592450T>C | CA383587810 | CHD4 | c.2852A>G (p.Lys951Arg) n.117A>G c.2891A>G (p.Lys964Arg) c.2882A>G (p.Lys961Arg) c.2817A>G c.2831A>G (p.Lys944Arg) c.2870A>G (p.Lys957Arg) c.1608A>G c.2858A>G (p.Lys953Arg) c.749A>G (p.Lys250Arg) n.846A>G n.2471A>G c.1819A>G c.892A>G n.16A>G n.158A>G | |
| 12 | g.6592450T>G | CA383587812 | CHD4 | c.2852A>C (p.Lys951Thr) n.117A>C c.2891A>C (p.Lys964Thr) c.2882A>C (p.Lys961Thr) c.2817A>C c.2831A>C (p.Lys944Thr) c.2870A>C (p.Lys957Thr) c.1608A>C c.2858A>C (p.Lys953Thr) c.749A>C (p.Lys250Thr) n.846A>C n.2471A>C c.1819A>C c.892A>C n.16A>C n.158A>C | |
| 12 | g.6592451T>A | CA383587814 | CHD4 | c.2851A>T (p.Lys951Ter) n.116A>T c.2890A>T (p.Lys964Ter) c.2881A>T (p.Lys961Ter) c.2816A>T c.2830A>T (p.Lys944Ter) c.2869A>T (p.Lys957Ter) c.1607A>T c.2857A>T (p.Lys953Ter) c.748A>T (p.Lys250Ter) n.845A>T n.2470A>T c.1818A>T c.891A>T n.15A>T n.157A>T | |
| 12 | g.6592451T>C | CA383587818 | CHD4 | c.2851A>G (p.Lys951Glu) n.116A>G c.2890A>G (p.Lys964Glu) c.2881A>G (p.Lys961Glu) c.2816A>G c.2830A>G (p.Lys944Glu) c.2869A>G (p.Lys957Glu) c.1607A>G c.2857A>G (p.Lys953Glu) c.748A>G (p.Lys250Glu) n.845A>G n.2470A>G c.1818A>G c.891A>G n.15A>G n.157A>G | |
| 12 | g.6592451T>G | CA383587816 | CHD4 | c.2851A>C (p.Lys951Gln) n.116A>C c.2890A>C (p.Lys964Gln) c.2881A>C (p.Lys961Gln) c.2816A>C c.2830A>C (p.Lys944Gln) c.2869A>C (p.Lys957Gln) c.1607A>C c.2857A>C (p.Lys953Gln) c.748A>C (p.Lys250Gln) n.845A>C n.2470A>C c.1818A>C c.891A>C n.15A>C n.157A>C | |
| 12 | g.6592452G>A | CA478511191 | CHD4 | c.2850C>T (p.Phe950=) n.115C>T c.2889C>T (p.Phe963=) c.2880C>T (p.Phe960=) c.2815C>T c.2829C>T (p.Phe943=) c.2868C>T (p.Phe956=) c.1606C>T c.2856C>T (p.Phe952=) c.747C>T (p.Phe249=) n.844C>T n.2469C>T c.1817C>T c.890C>T n.14C>T n.156C>T | gnomAD v4 |
| 12 | g.6592452G>C | CA383587821 | CHD4 | c.2850C>G (p.Phe950Leu) n.115C>G c.2889C>G (p.Phe963Leu) c.2880C>G (p.Phe960Leu) c.2815C>G c.2829C>G (p.Phe943Leu) c.2868C>G (p.Phe956Leu) c.1606C>G c.2856C>G (p.Phe952Leu) c.747C>G (p.Phe249Leu) n.844C>G n.2469C>G c.1817C>G c.890C>G n.14C>G n.156C>G | |
| 12 | g.6592452G>T | CA383587824 | CHD4 | c.2850C>A (p.Phe950Leu) n.115C>A c.2889C>A (p.Phe963Leu) c.2880C>A (p.Phe960Leu) c.2815C>A c.2829C>A (p.Phe943Leu) c.2868C>A (p.Phe956Leu) c.1606C>A c.2856C>A (p.Phe952Leu) c.747C>A (p.Phe249Leu) n.844C>A n.2469C>A c.1817C>A c.890C>A n.14C>A n.156C>A | |
| 12 | g.6592453A>C | CA383587826 | CHD4 | c.2849T>G (p.Phe950Cys) n.114T>G c.2888T>G (p.Phe963Cys) c.2879T>G (p.Phe960Cys) c.2814T>G c.2828T>G (p.Phe943Cys) c.2867T>G (p.Phe956Cys) c.1605T>G c.2855T>G (p.Phe952Cys) c.746T>G (p.Phe249Cys) n.843T>G n.2468T>G c.1816T>G c.889T>G n.13T>G n.155T>G | |
| 12 | g.6592453A>G | CA383587828 | CHD4 | c.2849T>C (p.Phe950Ser) n.114T>C c.2888T>C (p.Phe963Ser) c.2879T>C (p.Phe960Ser) c.2814T>C c.2828T>C (p.Phe943Ser) c.2867T>C (p.Phe956Ser) c.1605T>C c.2855T>C (p.Phe952Ser) c.746T>C (p.Phe249Ser) n.843T>C n.2468T>C c.1816T>C c.889T>C n.13T>C n.155T>C | |
| 12 | g.6592453A>T | CA383587830 | CHD4 | c.2849T>A (p.Phe950Tyr) n.114T>A c.2888T>A (p.Phe963Tyr) c.2879T>A (p.Phe960Tyr) c.2814T>A c.2828T>A (p.Phe943Tyr) c.2867T>A (p.Phe956Tyr) c.1605T>A c.2855T>A (p.Phe952Tyr) c.746T>A (p.Phe249Tyr) n.843T>A n.2468T>A c.1816T>A c.889T>A n.13T>A n.155T>A | |
| 12 | g.6592454A>C | CA383587837 | CHD4 | c.2848T>G (p.Phe950Val) n.113T>G c.2887T>G (p.Phe963Val) c.2878T>G (p.Phe960Val) c.2813T>G c.2827T>G (p.Phe943Val) c.2866T>G (p.Phe956Val) c.1604T>G c.2854T>G (p.Phe952Val) c.745T>G (p.Phe249Val) n.842T>G n.2467T>G c.1815T>G c.888T>G n.12T>G n.154T>G | |
| 12 | g.6592454A>G | CA383587834 | CHD4 | c.2848T>C (p.Phe950Leu) n.113T>C c.2887T>C (p.Phe963Leu) c.2878T>C (p.Phe960Leu) c.2813T>C c.2827T>C (p.Phe943Leu) c.2866T>C (p.Phe956Leu) c.1604T>C c.2854T>C (p.Phe952Leu) c.745T>C (p.Phe249Leu) n.842T>C n.2467T>C c.1815T>C c.888T>C n.12T>C n.154T>C | |
| 12 | g.6592454A>T | CA383587833 | CHD4 | c.2848T>A (p.Phe950Ile) n.113T>A c.2887T>A (p.Phe963Ile) c.2878T>A (p.Phe960Ile) c.2813T>A c.2827T>A (p.Phe943Ile) c.2866T>A (p.Phe956Ile) c.1604T>A c.2854T>A (p.Phe952Ile) c.745T>A (p.Phe249Ile) n.842T>A n.2467T>A c.1815T>A c.888T>A n.12T>A n.154T>A | |
| 12 | g.6592455C>A | CA478511192 | CHD4 | c.2847G>T (p.Val949=) n.112G>T c.2886G>T (p.Val962=) c.2877G>T (p.Val959=) c.2812G>T c.2826G>T (p.Val942=) c.2865G>T (p.Val955=) c.1603G>T c.2853G>T (p.Val951=) c.744G>T (p.Val248=) n.841G>T n.2466G>T c.1814G>T c.887G>T n.11G>T n.153G>T | |
| 12 | g.6592455C= | CA2014148520 | CHD4 | c.2847G= (p.Val949=) n.112G= c.2886G= (p.Val962=) c.2877G= (p.Val959=) c.2812G= c.2826G= (p.Val942=) c.2865G= (p.Val955=) c.1603G= c.2853G= (p.Val951=) c.744G= (p.Val248=) n.841G= n.2466G= c.1814G= c.887G= n.11G= n.153G= | |
| 12 | g.6592455C>G | CA478511193 | CHD4 | c.2847G>C (p.Val949=) n.112G>C c.2886G>C (p.Val962=) c.2877G>C (p.Val959=) c.2812G>C c.2826G>C (p.Val942=) c.2865G>C (p.Val955=) c.1603G>C c.2853G>C (p.Val951=) c.744G>C (p.Val248=) n.841G>C n.2466G>C c.1814G>C c.887G>C n.11G>C n.153G>C | |
| 12 | g.6592455C>T | CA478511194 | CHD4 | c.2847G>A (p.Val949=) n.112G>A c.2886G>A (p.Val962=) c.2877G>A (p.Val959=) c.2812G>A c.2826G>A (p.Val942=) c.2865G>A (p.Val955=) c.1603G>A c.2853G>A (p.Val951=) c.744G>A (p.Val248=) n.841G>A n.2466G>A c.1814G>A c.887G>A n.11G>A n.153G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6592455_6592456insGTAGAAGGGCGTCTTCTTGAAGCATGAAGAGGGTGTATTGTGTTCGAAGGGAGCGAAATTCCTTGACATTAAG | CA2522675251 | CHD4 | c.2846_2847insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe950LeufsTer?) n.111_112insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC c.2885_2886insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe963LeufsTer?) c.2876_2877insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe960LeufsTer?) c.2811_2812insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC c.2825_2826insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe943LeufsTer?) c.2864_2865insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe956LeufsTer?) c.1602_1603insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC c.2852_2853insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe952LeufsTer?) c.743_744insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC (p.Phe249LeufsTer?) n.840_841insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC n.2465_2466insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC c.1813_1814insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC c.886_887insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC n.10_11insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC n.152_153insCTTAATGTCAAGGAATTTCGCTCCCTTCGAACACAATACACCCTCTTCATGCTTCAAGAAGACGCCCTTCTAC | |
| 12 | g.6592456A>C | CA383587840 | CHD4 | c.2846T>G (p.Val949Gly) n.111T>G c.2885T>G (p.Val962Gly) c.2876T>G (p.Val959Gly) c.2811T>G c.2825T>G (p.Val942Gly) c.2864T>G (p.Val955Gly) c.1602T>G c.2852T>G (p.Val951Gly) c.743T>G (p.Val248Gly) n.840T>G n.2465T>G c.1813T>G c.886T>G n.10T>G n.152T>G | |
| 12 | g.6592456A>G | CA383587843 | CHD4 | c.2846T>C (p.Val949Ala) n.111T>C c.2885T>C (p.Val962Ala) c.2876T>C (p.Val959Ala) c.2811T>C c.2825T>C (p.Val942Ala) c.2864T>C (p.Val955Ala) c.1602T>C c.2852T>C (p.Val951Ala) c.743T>C (p.Val248Ala) n.840T>C n.2465T>C c.1813T>C c.886T>C n.10T>C n.152T>C | |
| 12 | g.6592456A>T | CA383587844 | CHD4 | c.2846T>A (p.Val949Glu) n.111T>A c.2885T>A (p.Val962Glu) c.2876T>A (p.Val959Glu) c.2811T>A c.2825T>A (p.Val942Glu) c.2864T>A (p.Val955Glu) c.1602T>A c.2852T>A (p.Val951Glu) c.743T>A (p.Val248Glu) n.840T>A n.2465T>A c.1813T>A c.886T>A n.10T>A n.152T>A | |
| 12 | g.6592457C>A | CA383587850 | CHD4 | c.2845G>T (p.Val949Leu) n.110G>T c.2884G>T (p.Val962Leu) c.2875G>T (p.Val959Leu) c.2810G>T c.2824G>T (p.Val942Leu) c.2863G>T (p.Val955Leu) c.1601G>T c.2851G>T (p.Val951Leu) c.742G>T (p.Val248Leu) n.839G>T n.2464G>T c.1812G>T c.885G>T n.9G>T n.151G>T | COSMIC COSMIC COSMIC |
| 12 | g.6592457C>G | CA383587852 | CHD4 | c.2845G>C (p.Val949Leu) n.110G>C c.2884G>C (p.Val962Leu) c.2875G>C (p.Val959Leu) c.2810G>C c.2824G>C (p.Val942Leu) c.2863G>C (p.Val955Leu) c.1601G>C c.2851G>C (p.Val951Leu) c.742G>C (p.Val248Leu) n.839G>C n.2464G>C c.1812G>C c.885G>C n.9G>C n.151G>C | |
| 12 | g.6592457C>T | CA383587854 | CHD4 | c.2845G>A (p.Val949Met) n.110G>A c.2884G>A (p.Val962Met) c.2875G>A (p.Val959Met) c.2810G>A c.2824G>A (p.Val942Met) c.2863G>A (p.Val955Met) c.1601G>A c.2851G>A (p.Val951Met) c.742G>A (p.Val248Met) n.839G>A n.2464G>A c.1812G>A c.885G>A n.9G>A n.151G>A | |
| 12 | g.6592458A= | CA2014148525 | CHD4 | c.2844T= (p.Asp948=) n.109T= c.2883T= (p.Asp961=) c.2874T= (p.Asp958=) c.2809T= c.2823T= (p.Asp941=) c.2862T= (p.Asp954=) c.1600T= c.2850T= (p.Asp950=) c.741T= (p.Asp247=) n.838T= n.2463T= c.1811T= c.884T= n.8T= n.150T= | |
| 12 | g.6592458A>C | CA383587859 | CHD4 | c.2844T>G (p.Asp948Glu) n.109T>G c.2883T>G (p.Asp961Glu) c.2874T>G (p.Asp958Glu) c.2809T>G c.2823T>G (p.Asp941Glu) c.2862T>G (p.Asp954Glu) c.1600T>G c.2850T>G (p.Asp950Glu) c.741T>G (p.Asp247Glu) n.838T>G n.2463T>G c.1811T>G c.884T>G n.8T>G n.150T>G | |
| 12 | g.6592458A>G | CA6411884 | CHD4 | c.2844T>C (p.Asp948=) n.109T>C c.2883T>C (p.Asp961=) c.2874T>C (p.Asp958=) c.2809T>C c.2823T>C (p.Asp941=) c.2862T>C (p.Asp954=) c.1600T>C c.2850T>C (p.Asp950=) c.741T>C (p.Asp247=) n.838T>C n.2463T>C c.1811T>C c.884T>C n.8T>C n.150T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6592458A>T | CA383587867 | CHD4 | c.2844T>A (p.Asp948Glu) n.109T>A c.2883T>A (p.Asp961Glu) c.2874T>A (p.Asp958Glu) c.2809T>A c.2823T>A (p.Asp941Glu) c.2862T>A (p.Asp954Glu) c.1600T>A c.2850T>A (p.Asp950Glu) c.741T>A (p.Asp247Glu) n.838T>A n.2463T>A c.1811T>A c.884T>A n.8T>A n.150T>A | |
| 12 | g.6592459T>A | CA383587876 | CHD4 | c.2843A>T (p.Asp948Val) n.108A>T c.2882A>T (p.Asp961Val) c.2873A>T (p.Asp958Val) c.2808A>T c.2822A>T (p.Asp941Val) c.2861A>T (p.Asp954Val) c.1599A>T c.2849A>T (p.Asp950Val) c.740A>T (p.Asp247Val) n.837A>T n.2462A>T c.1810A>T c.883A>T n.7A>T n.149A>T |