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 |
|---|---|---|---|---|---|
| 3 | g.38894747G>A | CA352174741 | SCN11A | c.2621C>T (p.Ala874Val) c.2441C>T (p.Ala814Val) c.2665C>T (n.2665C>T) c.2240C>T (p.Ala747Val) c.1958C>T (p.Ala653Val) c.1169C>T (p.Ala390Val) c.2996C>T (p.Ala999Val) c.2423C>T (p.Ala808Val) c.2348C>T (p.Ala783Val) c.1025C>T (p.Ala342Val) | |
| 3 | g.38894747G>C | CA352174739 | SCN11A | c.2621C>G (p.Ala874Gly) c.2441C>G (p.Ala814Gly) c.2665C>G (n.2665C>G) c.2240C>G (p.Ala747Gly) c.1958C>G (p.Ala653Gly) c.1169C>G (p.Ala390Gly) c.2996C>G (p.Ala999Gly) c.2423C>G (p.Ala808Gly) c.2348C>G (p.Ala783Gly) c.1025C>G (p.Ala342Gly) | |
| 3 | g.38894747G>T | CA352174740 | SCN11A | c.2621C>A (p.Ala874Asp) c.2441C>A (p.Ala814Asp) c.2665C>A (n.2665C>A) c.2240C>A (p.Ala747Asp) c.1958C>A (p.Ala653Asp) c.1169C>A (p.Ala390Asp) c.2996C>A (p.Ala999Asp) c.2423C>A (p.Ala808Asp) c.2348C>A (p.Ala783Asp) c.1025C>A (p.Ala342Asp) | |
| 3 | g.38894748C>A | CA352174742 | SCN11A | c.2620G>T (p.Ala874Ser) c.2440G>T (p.Ala814Ser) c.2664G>T (n.2664G>T) c.2239G>T (p.Ala747Ser) c.1957G>T (p.Ala653Ser) c.1168G>T (p.Ala390Ser) c.2995G>T (p.Ala999Ser) c.2422G>T (p.Ala808Ser) c.2347G>T (p.Ala783Ser) c.1024G>T (p.Ala342Ser) | |
| 3 | g.38894748C= | CA1358718199 | SCN11A | c.2620G= (p.Ala874=) c.2440G= (p.Ala814=) c.2664G= (n.2664G=) c.2239G= (p.Ala747=) c.1957G= (p.Ala653=) c.1168G= (p.Ala390=) c.2995G= (p.Ala999=) c.2422G= (p.Ala808=) c.2347G= (p.Ala783=) c.1024G= (p.Ala342=) | |
| 3 | g.38894748C>G | CA352174743 | SCN11A | c.2620G>C (p.Ala874Pro) c.2440G>C (p.Ala814Pro) c.2664G>C (n.2664G>C) c.2239G>C (p.Ala747Pro) c.1957G>C (p.Ala653Pro) c.1168G>C (p.Ala390Pro) c.2995G>C (p.Ala999Pro) c.2422G>C (p.Ala808Pro) c.2347G>C (p.Ala783Pro) c.1024G>C (p.Ala342Pro) | |
| 3 | g.38894748C>T | CA352174744 | SCN11A | c.2620G>A (p.Ala874Thr) c.2440G>A (p.Ala814Thr) c.2664G>A (n.2664G>A) c.2239G>A (p.Ala747Thr) c.1957G>A (p.Ala653Thr) c.1168G>A (p.Ala390Thr) c.2995G>A (p.Ala999Thr) c.2422G>A (p.Ala808Thr) c.2347G>A (p.Ala783Thr) c.1024G>A (p.Ala342Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38894749A= | CA1358718200 | SCN11A | c.2619T= (p.Cys873=) c.2439T= (p.Cys813=) c.2663T= (n.2663T=) c.2238T= (p.Cys746=) c.1956T= (p.Cys652=) c.1167T= (p.Cys389=) c.2994T= (p.Cys998=) c.2421T= (p.Cys807=) c.2346T= (p.Cys782=) c.1023T= (p.Cys341=) | |
| 3 | g.38894749A>C | CA352174745 | SCN11A | c.2619T>G (p.Cys873Trp) c.2439T>G (p.Cys813Trp) c.2663T>G (n.2663T>G) c.2238T>G (p.Cys746Trp) c.1956T>G (p.Cys652Trp) c.1167T>G (p.Cys389Trp) c.2994T>G (p.Cys998Trp) c.2421T>G (p.Cys807Trp) c.2346T>G (p.Cys782Trp) c.1023T>G (p.Cys341Trp) | |
| 3 | g.38894749A>G | CA433336095 | SCN11A | c.2619T>C (p.Cys873=) c.2439T>C (p.Cys813=) c.2663T>C (n.2663T>C) c.2238T>C (p.Cys746=) c.1956T>C (p.Cys652=) c.1167T>C (p.Cys389=) c.2994T>C (p.Cys998=) c.2421T>C (p.Cys807=) c.2346T>C (p.Cys782=) c.1023T>C (p.Cys341=) | |
| 3 | g.38894749A>T | CA352174746 | SCN11A | c.2619T>A (p.Cys873Ter) c.2439T>A (p.Cys813Ter) c.2663T>A (n.2663T>A) c.2238T>A (p.Cys746Ter) c.1956T>A (p.Cys652Ter) c.1167T>A (p.Cys389Ter) c.2994T>A (p.Cys998Ter) c.2421T>A (p.Cys807Ter) c.2346T>A (p.Cys782Ter) c.1023T>A (p.Cys341Ter) | dbSNP |
| 3 | g.38894750C>A | CA352174747 | SCN11A | c.2618G>T (p.Cys873Phe) c.2438G>T (p.Cys813Phe) c.2662G>T (n.2662G>T) c.2237G>T (p.Cys746Phe) c.1955G>T (p.Cys652Phe) c.1166G>T (p.Cys389Phe) c.2993G>T (p.Cys998Phe) c.2420G>T (p.Cys807Phe) c.2345G>T (p.Cys782Phe) c.1022G>T (p.Cys341Phe) | |
| 3 | g.38894750C= | CA1358718201 | SCN11A | c.2618G= (p.Cys873=) c.2438G= (p.Cys813=) c.2662G= (n.2662G=) c.2237G= (p.Cys746=) c.1955G= (p.Cys652=) c.1166G= (p.Cys389=) c.2993G= (p.Cys998=) c.2420G= (p.Cys807=) c.2345G= (p.Cys782=) c.1022G= (p.Cys341=) | |
| 3 | g.38894750C>G | CA2322006 | SCN11A | c.2618G>C (p.Cys873Ser) c.2438G>C (p.Cys813Ser) c.2662G>C (n.2662G>C) c.2237G>C (p.Cys746Ser) c.1955G>C (p.Cys652Ser) c.1166G>C (p.Cys389Ser) c.2993G>C (p.Cys998Ser) c.2420G>C (p.Cys807Ser) c.2345G>C (p.Cys782Ser) c.1022G>C (p.Cys341Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894750C>T | CA2322005 | SCN11A | c.2618G>A (p.Cys873Tyr) c.2438G>A (p.Cys813Tyr) c.2662G>A (n.2662G>A) c.2237G>A (p.Cys746Tyr) c.1955G>A (p.Cys652Tyr) c.1166G>A (p.Cys389Tyr) c.2993G>A (p.Cys998Tyr) c.2420G>A (p.Cys807Tyr) c.2345G>A (p.Cys782Tyr) c.1022G>A (p.Cys341Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894751A= | CA1358718202 | SCN11A | c.2617T= (p.Cys873=) c.2437T= (p.Cys813=) c.2661T= (n.2661T=) c.2236T= (p.Cys746=) c.1954T= (p.Cys652=) c.1165T= (p.Cys389=) c.2992T= (p.Cys998=) c.2419T= (p.Cys807=) c.2344T= (p.Cys782=) c.1021T= (p.Cys341=) | |
| 3 | g.38894751A>C | CA2322007 | SCN11A | c.2617T>G (p.Cys873Gly) c.2437T>G (p.Cys813Gly) c.2661T>G (n.2661T>G) c.2236T>G (p.Cys746Gly) c.1954T>G (p.Cys652Gly) c.1165T>G (p.Cys389Gly) c.2992T>G (p.Cys998Gly) c.2419T>G (p.Cys807Gly) c.2344T>G (p.Cys782Gly) c.1021T>G (p.Cys341Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894751A>G | CA352174748 | SCN11A | c.2617T>C (p.Cys873Arg) c.2437T>C (p.Cys813Arg) c.2661T>C (n.2661T>C) c.2236T>C (p.Cys746Arg) c.1954T>C (p.Cys652Arg) c.1165T>C (p.Cys389Arg) c.2992T>C (p.Cys998Arg) c.2419T>C (p.Cys807Arg) c.2344T>C (p.Cys782Arg) c.1021T>C (p.Cys341Arg) | |
| 3 | g.38894751A>T | CA352174749 | SCN11A | c.2617T>A (p.Cys873Ser) c.2437T>A (p.Cys813Ser) c.2661T>A (n.2661T>A) c.2236T>A (p.Cys746Ser) c.1954T>A (p.Cys652Ser) c.1165T>A (p.Cys389Ser) c.2992T>A (p.Cys998Ser) c.2419T>A (p.Cys807Ser) c.2344T>A (p.Cys782Ser) c.1021T>A (p.Cys341Ser) | |
| 3 | g.38894752G>A | CA433336100 | SCN11A | c.2616C>T (p.Gly872=) c.2436C>T (p.Gly812=) c.2660C>T (n.2660C>T) c.2235C>T (p.Gly745=) c.1953C>T (p.Gly651=) c.1164C>T (p.Gly388=) c.2991C>T (p.Gly997=) c.2418C>T (p.Gly806=) c.2343C>T (p.Gly781=) c.1020C>T (p.Gly340=) | gnomAD v4 |
| 3 | g.38894752G>C | CA433336102 | SCN11A | c.2616C>G (p.Gly872=) c.2436C>G (p.Gly812=) c.2660C>G (n.2660C>G) c.2235C>G (p.Gly745=) c.1953C>G (p.Gly651=) c.1164C>G (p.Gly388=) c.2991C>G (p.Gly997=) c.2418C>G (p.Gly806=) c.2343C>G (p.Gly781=) c.1020C>G (p.Gly340=) | dbSNP gnomAD v4 |
| 3 | g.38894752G= | CA1358718203 | SCN11A | c.2616C= (p.Gly872=) c.2436C= (p.Gly812=) c.2660C= (n.2660C=) c.2235C= (p.Gly745=) c.1953C= (p.Gly651=) c.1164C= (p.Gly388=) c.2991C= (p.Gly997=) c.2418C= (p.Gly806=) c.2343C= (p.Gly781=) c.1020C= (p.Gly340=) | |
| 3 | g.38894752G>T | CA433336101 | SCN11A | c.2616C>A (p.Gly872=) c.2436C>A (p.Gly812=) c.2660C>A (n.2660C>A) c.2235C>A (p.Gly745=) c.1953C>A (p.Gly651=) c.1164C>A (p.Gly388=) c.2991C>A (p.Gly997=) c.2418C>A (p.Gly806=) c.2343C>A (p.Gly781=) c.1020C>A (p.Gly340=) | |
| 3 | g.38894753C>A | CA2322008 | SCN11A | c.2615G>T (p.Gly872Val) c.2435G>T (p.Gly812Val) c.2659G>T (n.2659G>T) c.2234G>T (p.Gly745Val) c.1952G>T (p.Gly651Val) c.1163G>T (p.Gly388Val) c.2990G>T (p.Gly997Val) c.2417G>T (p.Gly806Val) c.2342G>T (p.Gly781Val) c.1019G>T (p.Gly340Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894753C= | CA1358718204 | SCN11A | c.2615G= (p.Gly872=) c.2435G= (p.Gly812=) c.2659G= (n.2659G=) c.2234G= (p.Gly745=) c.1952G= (p.Gly651=) c.1163G= (p.Gly388=) c.2990G= (p.Gly997=) c.2417G= (p.Gly806=) c.2342G= (p.Gly781=) c.1019G= (p.Gly340=) | |
| 3 | g.38894753C>G | CA352174751 | SCN11A | c.2615G>C (p.Gly872Ala) c.2435G>C (p.Gly812Ala) c.2659G>C (n.2659G>C) c.2234G>C (p.Gly745Ala) c.1952G>C (p.Gly651Ala) c.1163G>C (p.Gly388Ala) c.2990G>C (p.Gly997Ala) c.2417G>C (p.Gly806Ala) c.2342G>C (p.Gly781Ala) c.1019G>C (p.Gly340Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894753C>T | CA352174750 | SCN11A | c.2615G>A (p.Gly872Asp) c.2435G>A (p.Gly812Asp) c.2659G>A (n.2659G>A) c.2234G>A (p.Gly745Asp) c.1952G>A (p.Gly651Asp) c.1163G>A (p.Gly388Asp) c.2990G>A (p.Gly997Asp) c.2417G>A (p.Gly806Asp) c.2342G>A (p.Gly781Asp) c.1019G>A (p.Gly340Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894754C>A | CA352174752 | SCN11A | c.2614G>T (p.Gly872Cys) c.2434G>T (p.Gly812Cys) c.2658G>T (n.2658G>T) c.2233G>T (p.Gly745Cys) c.1951G>T (p.Gly651Cys) c.1162G>T (p.Gly388Cys) c.2989G>T (p.Gly997Cys) c.2416G>T (p.Gly806Cys) c.2341G>T (p.Gly781Cys) c.1018G>T (p.Gly340Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894754C= | CA1358718205 | SCN11A | c.2614G= (p.Gly872=) c.2434G= (p.Gly812=) c.2658G= (n.2658G=) c.2233G= (p.Gly745=) c.1951G= (p.Gly651=) c.1162G= (p.Gly388=) c.2989G= (p.Gly997=) c.2416G= (p.Gly806=) c.2341G= (p.Gly781=) c.1018G= (p.Gly340=) | |
| 3 | g.38894754C>G | CA352174753 | SCN11A | c.2614G>C (p.Gly872Arg) c.2434G>C (p.Gly812Arg) c.2658G>C (n.2658G>C) c.2233G>C (p.Gly745Arg) c.1951G>C (p.Gly651Arg) c.1162G>C (p.Gly388Arg) c.2989G>C (p.Gly997Arg) c.2416G>C (p.Gly806Arg) c.2341G>C (p.Gly781Arg) c.1018G>C (p.Gly340Arg) | |
| 3 | g.38894754C>T | CA352174754 | SCN11A | c.2614G>A (p.Gly872Ser) c.2434G>A (p.Gly812Ser) c.2658G>A (n.2658G>A) c.2233G>A (p.Gly745Ser) c.1951G>A (p.Gly651Ser) c.1162G>A (p.Gly388Ser) c.2989G>A (p.Gly997Ser) c.2416G>A (p.Gly806Ser) c.2341G>A (p.Gly781Ser) c.1018G>A (p.Gly340Ser) | |
| 3 | g.38894755T>A | CA433336103 | SCN11A | c.2613A>T (p.Gly871=) c.2433A>T (p.Gly811=) c.2657A>T (n.2657A>T) c.2232A>T (p.Gly744=) c.1950A>T (p.Gly650=) c.1161A>T (p.Gly387=) c.2988A>T (p.Gly996=) c.2415A>T (p.Gly805=) c.2340A>T (p.Gly780=) c.1017A>T (p.Gly339=) | |
| 3 | g.38894755T>C | CA433336104 | SCN11A | c.2613A>G (p.Gly871=) c.2433A>G (p.Gly811=) c.2657A>G (n.2657A>G) c.2232A>G (p.Gly744=) c.1950A>G (p.Gly650=) c.1161A>G (p.Gly387=) c.2988A>G (p.Gly996=) c.2415A>G (p.Gly805=) c.2340A>G (p.Gly780=) c.1017A>G (p.Gly339=) | |
| 3 | g.38894755T>G | CA433336105 | SCN11A | c.2613A>C (p.Gly871=) c.2433A>C (p.Gly811=) c.2657A>C (n.2657A>C) c.2232A>C (p.Gly744=) c.1950A>C (p.Gly650=) c.1161A>C (p.Gly387=) c.2988A>C (p.Gly996=) c.2415A>C (p.Gly805=) c.2340A>C (p.Gly780=) c.1017A>C (p.Gly339=) | |
| 3 | g.38894756C>A | CA352174755 | SCN11A | c.2612G>T (p.Gly871Val) c.2432G>T (p.Gly811Val) c.2656G>T (n.2656G>T) c.2231G>T (p.Gly744Val) c.1949G>T (p.Gly650Val) c.1160G>T (p.Gly387Val) c.2987G>T (p.Gly996Val) c.2414G>T (p.Gly805Val) c.2339G>T (p.Gly780Val) c.1016G>T (p.Gly339Val) | |
| 3 | g.38894756C= | CA1358718206 | SCN11A | c.2612G= (p.Gly871=) c.2432G= (p.Gly811=) c.2656G= (n.2656G=) c.2231G= (p.Gly744=) c.1949G= (p.Gly650=) c.1160G= (p.Gly387=) c.2987G= (p.Gly996=) c.2414G= (p.Gly805=) c.2339G= (p.Gly780=) c.1016G= (p.Gly339=) | |
| 3 | g.38894756C>G | CA352174756 | SCN11A | c.2612G>C (p.Gly871Ala) c.2432G>C (p.Gly811Ala) c.2656G>C (n.2656G>C) c.2231G>C (p.Gly744Ala) c.1949G>C (p.Gly650Ala) c.1160G>C (p.Gly387Ala) c.2987G>C (p.Gly996Ala) c.2414G>C (p.Gly805Ala) c.2339G>C (p.Gly780Ala) c.1016G>C (p.Gly339Ala) | |
| 3 | g.38894756C>T | CA352174757 | SCN11A | c.2612G>A (p.Gly871Glu) c.2432G>A (p.Gly811Glu) c.2656G>A (n.2656G>A) c.2231G>A (p.Gly744Glu) c.1949G>A (p.Gly650Glu) c.1160G>A (p.Gly387Glu) c.2987G>A (p.Gly996Glu) c.2414G>A (p.Gly805Glu) c.2339G>A (p.Gly780Glu) c.1016G>A (p.Gly339Glu) | dbSNP gnomAD v4 |
| 3 | g.38894757C>A | CA352174758 | SCN11A | c.2611G>T (p.Gly871Ter) c.2431G>T (p.Gly811Ter) c.2655G>T (n.2655G>T) c.2230G>T (p.Gly744Ter) c.1948G>T (p.Gly650Ter) c.1159G>T (p.Gly387Ter) c.2986G>T (p.Gly996Ter) c.2413G>T (p.Gly805Ter) c.2338G>T (p.Gly780Ter) c.1015G>T (p.Gly339Ter) | dbSNP |
| 3 | g.38894757C= | CA1358718207 | SCN11A | c.2611G= (p.Gly871=) c.2431G= (p.Gly811=) c.2655G= (n.2655G=) c.2230G= (p.Gly744=) c.1948G= (p.Gly650=) c.1159G= (p.Gly387=) c.2986G= (p.Gly996=) c.2413G= (p.Gly805=) c.2338G= (p.Gly780=) c.1015G= (p.Gly339=) | |
| 3 | g.38894757C>G | CA352174759 | SCN11A | c.2611G>C (p.Gly871Arg) c.2431G>C (p.Gly811Arg) c.2655G>C (n.2655G>C) c.2230G>C (p.Gly744Arg) c.1948G>C (p.Gly650Arg) c.1159G>C (p.Gly387Arg) c.2986G>C (p.Gly996Arg) c.2413G>C (p.Gly805Arg) c.2338G>C (p.Gly780Arg) c.1015G>C (p.Gly339Arg) | |
| 3 | g.38894757C>T | CA352174760 | SCN11A | c.2611G>A (p.Gly871Arg) c.2431G>A (p.Gly811Arg) c.2655G>A (n.2655G>A) c.2230G>A (p.Gly744Arg) c.1948G>A (p.Gly650Arg) c.1159G>A (p.Gly387Arg) c.2986G>A (p.Gly996Arg) c.2413G>A (p.Gly805Arg) c.2338G>A (p.Gly780Arg) c.1015G>A (p.Gly339Arg) | dbSNP gnomAD v4 |
| 3 | g.38894758T>A | CA433336106 | SCN11A | c.2610A>T (p.Ala870=) c.2430A>T (p.Ala810=) c.2654A>T (n.2654A>T) c.2229A>T (p.Ala743=) c.1947A>T (p.Ala649=) c.1158A>T (p.Ala386=) c.2985A>T (p.Ala995=) c.2412A>T (p.Ala804=) c.2337A>T (p.Ala779=) c.1014A>T (p.Ala338=) | |
| 3 | g.38894758T>C | CA433336107 | SCN11A | c.2610A>G (p.Ala870=) c.2430A>G (p.Ala810=) c.2654A>G (n.2654A>G) c.2229A>G (p.Ala743=) c.1947A>G (p.Ala649=) c.1158A>G (p.Ala386=) c.2985A>G (p.Ala995=) c.2412A>G (p.Ala804=) c.2337A>G (p.Ala779=) c.1014A>G (p.Ala338=) | gnomAD v4 |
| 3 | g.38894758T>G | CA433336108 | SCN11A | c.2610A>C (p.Ala870=) c.2430A>C (p.Ala810=) c.2654A>C (n.2654A>C) c.2229A>C (p.Ala743=) c.1947A>C (p.Ala649=) c.1158A>C (p.Ala386=) c.2985A>C (p.Ala995=) c.2412A>C (p.Ala804=) c.2337A>C (p.Ala779=) c.1014A>C (p.Ala338=) | |
| 3 | g.38894759G>A | CA352174761 | SCN11A | c.2609C>T (p.Ala870Val) c.2429C>T (p.Ala810Val) c.2653C>T (n.2653C>T) c.2228C>T (p.Ala743Val) c.1946C>T (p.Ala649Val) c.1157C>T (p.Ala386Val) c.2984C>T (p.Ala995Val) c.2411C>T (p.Ala804Val) c.2336C>T (p.Ala779Val) c.1013C>T (p.Ala338Val) | dbSNP |
| 3 | g.38894759G>C | CA352174762 | SCN11A | c.2609C>G (p.Ala870Gly) c.2429C>G (p.Ala810Gly) c.2653C>G (n.2653C>G) c.2228C>G (p.Ala743Gly) c.1946C>G (p.Ala649Gly) c.1157C>G (p.Ala386Gly) c.2984C>G (p.Ala995Gly) c.2411C>G (p.Ala804Gly) c.2336C>G (p.Ala779Gly) c.1013C>G (p.Ala338Gly) | |
| 3 | g.38894759G= | CA1358718208 | SCN11A | c.2609C= (p.Ala870=) c.2429C= (p.Ala810=) c.2653C= (n.2653C=) c.2228C= (p.Ala743=) c.1946C= (p.Ala649=) c.1157C= (p.Ala386=) c.2984C= (p.Ala995=) c.2411C= (p.Ala804=) c.2336C= (p.Ala779=) c.1013C= (p.Ala338=) | |
| 3 | g.38894759G>T | CA352174763 | SCN11A | c.2609C>A (p.Ala870Glu) c.2429C>A (p.Ala810Glu) c.2653C>A (n.2653C>A) c.2228C>A (p.Ala743Glu) c.1946C>A (p.Ala649Glu) c.1157C>A (p.Ala386Glu) c.2984C>A (p.Ala995Glu) c.2411C>A (p.Ala804Glu) c.2336C>A (p.Ala779Glu) c.1013C>A (p.Ala338Glu) | |
| 3 | g.38894760C>A | CA352174765 | SCN11A | c.2608G>T (p.Ala870Ser) c.2428G>T (p.Ala810Ser) c.2652G>T (n.2652G>T) c.2227G>T (p.Ala743Ser) c.1945G>T (p.Ala649Ser) c.1156G>T (p.Ala386Ser) c.2983G>T (p.Ala995Ser) c.2410G>T (p.Ala804Ser) c.2335G>T (p.Ala779Ser) c.1012G>T (p.Ala338Ser) |