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.38894738_38894742del | CA2665127321 | SCN11A | c.2631_2635del (p.Ser877ArgfsTer?) c.2451_2455del (p.Ser817ArgfsTer?) c.2675_2679del (n.2675_2679del) c.2250_2254del (p.Ser750ArgfsTer?) c.1968_1972del (p.Ser656ArgfsTer?) c.1179_1183del (p.Ser393ArgfsTer?) c.3006_3010del (p.Ser1002ArgfsTer?) c.2433_2437del (p.Ser811ArgfsTer?) c.2358_2362del (p.Ser786ArgfsTer?) c.1035_1039del (p.Ser345ArgfsTer?) | gnomAD v4 |
| 3 | g.38894741T>A | CA352174727 | SCN11A | c.2627A>T (p.Gln876Leu) c.2447A>T (p.Gln816Leu) c.2671A>T (n.2671A>T) c.2246A>T (p.Gln749Leu) c.1964A>T (p.Gln655Leu) c.1175A>T (p.Gln392Leu) c.3002A>T (p.Gln1001Leu) c.2429A>T (p.Gln810Leu) c.2354A>T (p.Gln785Leu) c.1031A>T (p.Gln344Leu) | |
| 3 | g.38894741T>C | CA352174728 | SCN11A | c.2627A>G (p.Gln876Arg) c.2447A>G (p.Gln816Arg) c.2671A>G (n.2671A>G) c.2246A>G (p.Gln749Arg) c.1964A>G (p.Gln655Arg) c.1175A>G (p.Gln392Arg) c.3002A>G (p.Gln1001Arg) c.2429A>G (p.Gln810Arg) c.2354A>G (p.Gln785Arg) c.1031A>G (p.Gln344Arg) | |
| 3 | g.38894741T>G | CA352174729 | SCN11A | c.2627A>C (p.Gln876Pro) c.2447A>C (p.Gln816Pro) c.2671A>C (n.2671A>C) c.2246A>C (p.Gln749Pro) c.1964A>C (p.Gln655Pro) c.1175A>C (p.Gln392Pro) c.3002A>C (p.Gln1001Pro) c.2429A>C (p.Gln810Pro) c.2354A>C (p.Gln785Pro) c.1031A>C (p.Gln344Pro) | |
| 3 | g.38894742G>A | CA352174730 | SCN11A | c.2626C>T (p.Gln876Ter) c.2446C>T (p.Gln816Ter) c.2670C>T (n.2670C>T) c.2245C>T (p.Gln749Ter) c.1963C>T (p.Gln655Ter) c.1174C>T (p.Gln392Ter) c.3001C>T (p.Gln1001Ter) c.2428C>T (p.Gln810Ter) c.2353C>T (p.Gln785Ter) c.1030C>T (p.Gln344Ter) | dbSNP |
| 3 | g.38894742G>C | CA352174731 | SCN11A | c.2626C>G (p.Gln876Glu) c.2446C>G (p.Gln816Glu) c.2670C>G (n.2670C>G) c.2245C>G (p.Gln749Glu) c.1963C>G (p.Gln655Glu) c.1174C>G (p.Gln392Glu) c.3001C>G (p.Gln1001Glu) c.2428C>G (p.Gln810Glu) c.2353C>G (p.Gln785Glu) c.1030C>G (p.Gln344Glu) | |
| 3 | g.38894742G= | CA1358718197 | SCN11A | c.2626C= (p.Gln876=) c.2446C= (p.Gln816=) c.2670C= (n.2670C=) c.2245C= (p.Gln749=) c.1963C= (p.Gln655=) c.1174C= (p.Gln392=) c.3001C= (p.Gln1001=) c.2428C= (p.Gln810=) c.2353C= (p.Gln785=) c.1030C= (p.Gln344=) | |
| 3 | g.38894742G>T | CA352174732 | SCN11A | c.2626C>A (p.Gln876Lys) c.2446C>A (p.Gln816Lys) c.2670C>A (n.2670C>A) c.2245C>A (p.Gln749Lys) c.1963C>A (p.Gln655Lys) c.1174C>A (p.Gln392Lys) c.3001C>A (p.Gln1001Lys) c.2428C>A (p.Gln810Lys) c.2353C>A (p.Gln785Lys) c.1030C>A (p.Gln344Lys) | |
| 3 | g.38894743T>A | CA433336086 | SCN11A | c.2625A>T (p.Ala875=) c.2445A>T (p.Ala815=) c.2669A>T (n.2669A>T) c.2244A>T (p.Ala748=) c.1962A>T (p.Ala654=) c.1173A>T (p.Ala391=) c.3000A>T (p.Ala1000=) c.2427A>T (p.Ala809=) c.2352A>T (p.Ala784=) c.1029A>T (p.Ala343=) | |
| 3 | g.38894743T>C | CA433336087 | SCN11A | c.2625A>G (p.Ala875=) c.2445A>G (p.Ala815=) c.2669A>G (n.2669A>G) c.2244A>G (p.Ala748=) c.1962A>G (p.Ala654=) c.1173A>G (p.Ala391=) c.3000A>G (p.Ala1000=) c.2427A>G (p.Ala809=) c.2352A>G (p.Ala784=) c.1029A>G (p.Ala343=) | dbSNP |
| 3 | g.38894743T>G | CA433336088 | SCN11A | c.2625A>C (p.Ala875=) c.2445A>C (p.Ala815=) c.2669A>C (n.2669A>C) c.2244A>C (p.Ala748=) c.1962A>C (p.Ala654=) c.1173A>C (p.Ala391=) c.3000A>C (p.Ala1000=) c.2427A>C (p.Ala809=) c.2352A>C (p.Ala784=) c.1029A>C (p.Ala343=) | |
| 3 | g.38894743T= | CA1358718198 | SCN11A | c.2625A= (p.Ala875=) c.2445A= (p.Ala815=) c.2669A= (n.2669A=) c.2244A= (p.Ala748=) c.1962A= (p.Ala654=) c.1173A= (p.Ala391=) c.3000A= (p.Ala1000=) c.2427A= (p.Ala809=) c.2352A= (p.Ala784=) c.1029A= (p.Ala343=) | |
| 3 | g.38894744G>A | CA352174733 | SCN11A | c.2624C>T (p.Ala875Val) c.2444C>T (p.Ala815Val) c.2668C>T (n.2668C>T) c.2243C>T (p.Ala748Val) c.1961C>T (p.Ala654Val) c.1172C>T (p.Ala391Val) c.2999C>T (p.Ala1000Val) c.2426C>T (p.Ala809Val) c.2351C>T (p.Ala784Val) c.1028C>T (p.Ala343Val) | |
| 3 | g.38894744G>C | CA352174734 | SCN11A | c.2624C>G (p.Ala875Gly) c.2444C>G (p.Ala815Gly) c.2668C>G (n.2668C>G) c.2243C>G (p.Ala748Gly) c.1961C>G (p.Ala654Gly) c.1172C>G (p.Ala391Gly) c.2999C>G (p.Ala1000Gly) c.2426C>G (p.Ala809Gly) c.2351C>G (p.Ala784Gly) c.1028C>G (p.Ala343Gly) | |
| 3 | g.38894744G>T | CA352174735 | SCN11A | c.2624C>A (p.Ala875Glu) c.2444C>A (p.Ala815Glu) c.2668C>A (n.2668C>A) c.2243C>A (p.Ala748Glu) c.1961C>A (p.Ala654Glu) c.1172C>A (p.Ala391Glu) c.2999C>A (p.Ala1000Glu) c.2426C>A (p.Ala809Glu) c.2351C>A (p.Ala784Glu) c.1028C>A (p.Ala343Glu) | |
| 3 | g.38894745C>A | CA352174736 | SCN11A | c.2623G>T (p.Ala875Ser) c.2443G>T (p.Ala815Ser) c.2667G>T (n.2667G>T) c.2242G>T (p.Ala748Ser) c.1960G>T (p.Ala654Ser) c.1171G>T (p.Ala391Ser) c.2998G>T (p.Ala1000Ser) c.2425G>T (p.Ala809Ser) c.2350G>T (p.Ala784Ser) c.1027G>T (p.Ala343Ser) | |
| 3 | g.38894745C>G | CA352174737 | SCN11A | c.2623G>C (p.Ala875Pro) c.2443G>C (p.Ala815Pro) c.2667G>C (n.2667G>C) c.2242G>C (p.Ala748Pro) c.1960G>C (p.Ala654Pro) c.1171G>C (p.Ala391Pro) c.2998G>C (p.Ala1000Pro) c.2425G>C (p.Ala809Pro) c.2350G>C (p.Ala784Pro) c.1027G>C (p.Ala343Pro) | |
| 3 | g.38894745C>T | CA352174738 | SCN11A | c.2623G>A (p.Ala875Thr) c.2443G>A (p.Ala815Thr) c.2667G>A (n.2667G>A) c.2242G>A (p.Ala748Thr) c.1960G>A (p.Ala654Thr) c.1171G>A (p.Ala391Thr) c.2998G>A (p.Ala1000Thr) c.2425G>A (p.Ala809Thr) c.2350G>A (p.Ala784Thr) c.1027G>A (p.Ala343Thr) | |
| 3 | g.38894746A>C | CA433336089 | SCN11A | c.2622T>G (p.Ala874=) c.2442T>G (p.Ala814=) c.2666T>G (n.2666T>G) c.2241T>G (p.Ala747=) c.1959T>G (p.Ala653=) c.1170T>G (p.Ala390=) c.2997T>G (p.Ala999=) c.2424T>G (p.Ala808=) c.2349T>G (p.Ala783=) c.1026T>G (p.Ala342=) | |
| 3 | g.38894746A>G | CA433336090 | SCN11A | c.2622T>C (p.Ala874=) c.2442T>C (p.Ala814=) c.2666T>C (n.2666T>C) c.2241T>C (p.Ala747=) c.1959T>C (p.Ala653=) c.1170T>C (p.Ala390=) c.2997T>C (p.Ala999=) c.2424T>C (p.Ala808=) c.2349T>C (p.Ala783=) c.1026T>C (p.Ala342=) | |
| 3 | g.38894746A>T | CA433336091 | SCN11A | c.2622T>A (p.Ala874=) c.2442T>A (p.Ala814=) c.2666T>A (n.2666T>A) c.2241T>A (p.Ala747=) c.1959T>A (p.Ala653=) c.1170T>A (p.Ala390=) c.2997T>A (p.Ala999=) c.2424T>A (p.Ala808=) c.2349T>A (p.Ala783=) c.1026T>A (p.Ala342=) | |
| 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=) |