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.38894736T>A | CA352174714 | SCN11A | c.2632A>T (p.Lys878Ter) c.2452A>T (p.Lys818Ter) c.2676A>T (n.2676A>T) c.2251A>T (p.Lys751Ter) c.1969A>T (p.Lys657Ter) c.1180A>T (p.Lys394Ter) c.3007A>T (p.Lys1003Ter) c.2434A>T (p.Lys812Ter) c.2359A>T (p.Lys787Ter) c.1036A>T (p.Lys346Ter) | dbSNP |
| 3 | g.38894736T>C | CA352174715 | SCN11A | c.2632A>G (p.Lys878Glu) c.2452A>G (p.Lys818Glu) c.2676A>G (n.2676A>G) c.2251A>G (p.Lys751Glu) c.1969A>G (p.Lys657Glu) c.1180A>G (p.Lys394Glu) c.3007A>G (p.Lys1003Glu) c.2434A>G (p.Lys812Glu) c.2359A>G (p.Lys787Glu) c.1036A>G (p.Lys346Glu) | |
| 3 | g.38894736T>G | CA352174716 | SCN11A | c.2632A>C (p.Lys878Gln) c.2452A>C (p.Lys818Gln) c.2676A>C (n.2676A>C) c.2251A>C (p.Lys751Gln) c.1969A>C (p.Lys657Gln) c.1180A>C (p.Lys394Gln) c.3007A>C (p.Lys1003Gln) c.2434A>C (p.Lys812Gln) c.2359A>C (p.Lys787Gln) c.1036A>C (p.Lys346Gln) | |
| 3 | g.38894736T= | CA1358718195 | SCN11A | c.2632A= (p.Lys878=) c.2452A= (p.Lys818=) c.2676A= (n.2676A=) c.2251A= (p.Lys751=) c.1969A= (p.Lys657=) c.1180A= (p.Lys394=) c.3007A= (p.Lys1003=) c.2434A= (p.Lys812=) c.2359A= (p.Lys787=) c.1036A= (p.Lys346=) | |
| 3 | g.38894737G>A | CA433336081 | SCN11A | c.2631C>T (p.Ser877=) c.2451C>T (p.Ser817=) c.2675C>T (n.2675C>T) c.2250C>T (p.Ser750=) c.1968C>T (p.Ser656=) c.1179C>T (p.Ser393=) c.3006C>T (p.Ser1002=) c.2433C>T (p.Ser811=) c.2358C>T (p.Ser786=) c.1035C>T (p.Ser345=) | |
| 3 | g.38894737G>C | CA352174717 | SCN11A | c.2631C>G (p.Ser877Arg) c.2451C>G (p.Ser817Arg) c.2675C>G (n.2675C>G) c.2250C>G (p.Ser750Arg) c.1968C>G (p.Ser656Arg) c.1179C>G (p.Ser393Arg) c.3006C>G (p.Ser1002Arg) c.2433C>G (p.Ser811Arg) c.2358C>G (p.Ser786Arg) c.1035C>G (p.Ser345Arg) | gnomAD v4 |
| 3 | g.38894737G>T | CA352174718 | SCN11A | c.2631C>A (p.Ser877Arg) c.2451C>A (p.Ser817Arg) c.2675C>A (n.2675C>A) c.2250C>A (p.Ser750Arg) c.1968C>A (p.Ser656Arg) c.1179C>A (p.Ser393Arg) c.3006C>A (p.Ser1002Arg) c.2433C>A (p.Ser811Arg) c.2358C>A (p.Ser786Arg) c.1035C>A (p.Ser345Arg) | |
| 3 | g.38894738C>A | CA352174719 | SCN11A | c.2630G>T (p.Ser877Ile) c.2450G>T (p.Ser817Ile) c.2674G>T (n.2674G>T) c.2249G>T (p.Ser750Ile) c.1967G>T (p.Ser656Ile) c.1178G>T (p.Ser393Ile) c.3005G>T (p.Ser1002Ile) c.2432G>T (p.Ser811Ile) c.2357G>T (p.Ser786Ile) c.1034G>T (p.Ser345Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894738C= | CA1358718196 | SCN11A | c.2630G= (p.Ser877=) c.2450G= (p.Ser817=) c.2674G= (n.2674G=) c.2249G= (p.Ser750=) c.1967G= (p.Ser656=) c.1178G= (p.Ser393=) c.3005G= (p.Ser1002=) c.2432G= (p.Ser811=) c.2357G= (p.Ser786=) c.1034G= (p.Ser345=) | |
| 3 | g.38894738C>G | CA352174720 | SCN11A | c.2630G>C (p.Ser877Thr) c.2450G>C (p.Ser817Thr) c.2674G>C (n.2674G>C) c.2249G>C (p.Ser750Thr) c.1967G>C (p.Ser656Thr) c.1178G>C (p.Ser393Thr) c.3005G>C (p.Ser1002Thr) c.2432G>C (p.Ser811Thr) c.2357G>C (p.Ser786Thr) c.1034G>C (p.Ser345Thr) | |
| 3 | g.38894738C>T | CA352174721 | SCN11A | c.2630G>A (p.Ser877Asn) c.2450G>A (p.Ser817Asn) c.2674G>A (n.2674G>A) c.2249G>A (p.Ser750Asn) c.1967G>A (p.Ser656Asn) c.1178G>A (p.Ser393Asn) c.3005G>A (p.Ser1002Asn) c.2432G>A (p.Ser811Asn) c.2357G>A (p.Ser786Asn) c.1034G>A (p.Ser345Asn) | gnomAD v4 |
| 3 | g.38894739T>A | CA352174723 | SCN11A | c.2629A>T (p.Ser877Cys) c.2449A>T (p.Ser817Cys) c.2673A>T (n.2673A>T) c.2248A>T (p.Ser750Cys) c.1966A>T (p.Ser656Cys) c.1177A>T (p.Ser393Cys) c.3004A>T (p.Ser1002Cys) c.2431A>T (p.Ser811Cys) c.2356A>T (p.Ser786Cys) c.1033A>T (p.Ser345Cys) | |
| 3 | g.38894739T>C | CA352174724 | SCN11A | c.2629A>G (p.Ser877Gly) c.2449A>G (p.Ser817Gly) c.2673A>G (n.2673A>G) c.2248A>G (p.Ser750Gly) c.1966A>G (p.Ser656Gly) c.1177A>G (p.Ser393Gly) c.3004A>G (p.Ser1002Gly) c.2431A>G (p.Ser811Gly) c.2356A>G (p.Ser786Gly) c.1033A>G (p.Ser345Gly) | gnomAD v4 |
| 3 | g.38894739T>G | CA352174722 | SCN11A | c.2629A>C (p.Ser877Arg) c.2449A>C (p.Ser817Arg) c.2673A>C (n.2673A>C) c.2248A>C (p.Ser750Arg) c.1966A>C (p.Ser656Arg) c.1177A>C (p.Ser393Arg) c.3004A>C (p.Ser1002Arg) c.2431A>C (p.Ser811Arg) c.2356A>C (p.Ser786Arg) c.1033A>C (p.Ser345Arg) | |
| 3 | g.38894740T>A | CA352174726 | SCN11A | c.2628A>T (p.Gln876His) c.2448A>T (p.Gln816His) c.2672A>T (n.2672A>T) c.2247A>T (p.Gln749His) c.1965A>T (p.Gln655His) c.1176A>T (p.Gln392His) c.3003A>T (p.Gln1001His) c.2430A>T (p.Gln810His) c.2355A>T (p.Gln785His) c.1032A>T (p.Gln344His) | |
| 3 | g.38894740T>C | CA433336084 | SCN11A | c.2628A>G (p.Gln876=) c.2448A>G (p.Gln816=) c.2672A>G (n.2672A>G) c.2247A>G (p.Gln749=) c.1965A>G (p.Gln655=) c.1176A>G (p.Gln392=) c.3003A>G (p.Gln1001=) c.2430A>G (p.Gln810=) c.2355A>G (p.Gln785=) c.1032A>G (p.Gln344=) | |
| 3 | g.38894740T>G | CA352174725 | SCN11A | c.2628A>C (p.Gln876His) c.2448A>C (p.Gln816His) c.2672A>C (n.2672A>C) c.2247A>C (p.Gln749His) c.1965A>C (p.Gln655His) c.1176A>C (p.Gln392His) c.3003A>C (p.Gln1001His) c.2430A>C (p.Gln810His) c.2355A>C (p.Gln785His) c.1032A>C (p.Gln344His) | |
| 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) |