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.38894859C>A | CA352174987 | SCN11A | c.2509G>T (p.Asp837Tyr) c.2329G>T (p.Asp777Tyr) c.2553G>T (n.2553G>T) c.2128G>T (p.Asp710Tyr) c.1846G>T (p.Asp616Tyr) c.1057G>T (p.Asp353Tyr) c.2884G>T (p.Asp962Tyr) c.2311G>T (p.Asp771Tyr) c.2236G>T (p.Asp746Tyr) c.913G>T (p.Asp305Tyr) | |
| 3 | g.38894859C= | CA1358718263 | SCN11A | c.2509G= (p.Asp837=) c.2329G= (p.Asp777=) c.2553G= (n.2553G=) c.2128G= (p.Asp710=) c.1846G= (p.Asp616=) c.1057G= (p.Asp353=) c.2884G= (p.Asp962=) c.2311G= (p.Asp771=) c.2236G= (p.Asp746=) c.913G= (p.Asp305=) | |
| 3 | g.38894859C>G | CA352174988 | SCN11A | c.2509G>C (p.Asp837His) c.2329G>C (p.Asp777His) c.2553G>C (n.2553G>C) c.2128G>C (p.Asp710His) c.1846G>C (p.Asp616His) c.1057G>C (p.Asp353His) c.2884G>C (p.Asp962His) c.2311G>C (p.Asp771His) c.2236G>C (p.Asp746His) c.913G>C (p.Asp305His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894859C>T | CA352174989 | SCN11A | c.2509G>A (p.Asp837Asn) c.2329G>A (p.Asp777Asn) c.2553G>A (n.2553G>A) c.2128G>A (p.Asp710Asn) c.1846G>A (p.Asp616Asn) c.1057G>A (p.Asp353Asn) c.2884G>A (p.Asp962Asn) c.2311G>A (p.Asp771Asn) c.2236G>A (p.Asp746Asn) c.913G>A (p.Asp305Asn) | |
| 3 | g.38894860_38894869del | CA2577554818 | SCN11A | c.2500_2509del (p.Leu834IlefsTer10) c.2320_2329del (p.Leu774IlefsTer10) c.2544_2553del (n.2544_2553del) c.2119_2128del (p.Leu707IlefsTer10) c.1837_1846del (p.Leu613IlefsTer10) c.1048_1057del (p.Leu350IlefsTer10) c.2875_2884del (p.Leu959IlefsTer10) c.2302_2311del (p.Leu768IlefsTer10) c.2227_2236del (p.Leu743IlefsTer10) c.904_913del (p.Leu302IlefsTer10) | |
| 3 | g.38894860C>A | CA72997821 | SCN11A | c.2508G>T (p.Leu836=) c.2328G>T (p.Leu776=) c.2552G>T (n.2552G>T) c.2127G>T (p.Leu709=) c.1845G>T (p.Leu615=) c.1056G>T (p.Leu352=) c.2883G>T (p.Leu961=) c.2310G>T (p.Leu770=) c.2235G>T (p.Leu745=) c.912G>T (p.Leu304=) | dbSNP |
| 3 | g.38894860C= | CA1358718264 | SCN11A | c.2508G= (p.Leu836=) c.2328G= (p.Leu776=) c.2552G= (n.2552G=) c.2127G= (p.Leu709=) c.1845G= (p.Leu615=) c.1056G= (p.Leu352=) c.2883G= (p.Leu961=) c.2310G= (p.Leu770=) c.2235G= (p.Leu745=) c.912G= (p.Leu304=) | |
| 3 | g.38894860C>G | CA433336178 | SCN11A | c.2508G>C (p.Leu836=) c.2328G>C (p.Leu776=) c.2552G>C (n.2552G>C) c.2127G>C (p.Leu709=) c.1845G>C (p.Leu615=) c.1056G>C (p.Leu352=) c.2883G>C (p.Leu961=) c.2310G>C (p.Leu770=) c.2235G>C (p.Leu745=) c.912G>C (p.Leu304=) | |
| 3 | g.38894860C>T | CA433336179 | SCN11A | c.2508G>A (p.Leu836=) c.2328G>A (p.Leu776=) c.2552G>A (n.2552G>A) c.2127G>A (p.Leu709=) c.1845G>A (p.Leu615=) c.1056G>A (p.Leu352=) c.2883G>A (p.Leu961=) c.2310G>A (p.Leu770=) c.2235G>A (p.Leu745=) c.912G>A (p.Leu304=) | |
| 3 | g.38894861A>C | CA352174990 | SCN11A | c.2507T>G (p.Leu836Arg) c.2327T>G (p.Leu776Arg) c.2551T>G (n.2551T>G) c.2126T>G (p.Leu709Arg) c.1844T>G (p.Leu615Arg) c.1055T>G (p.Leu352Arg) c.2882T>G (p.Leu961Arg) c.2309T>G (p.Leu770Arg) c.2234T>G (p.Leu745Arg) c.911T>G (p.Leu304Arg) | |
| 3 | g.38894861A>G | CA352174991 | SCN11A | c.2507T>C (p.Leu836Pro) c.2327T>C (p.Leu776Pro) c.2551T>C (n.2551T>C) c.2126T>C (p.Leu709Pro) c.1844T>C (p.Leu615Pro) c.1055T>C (p.Leu352Pro) c.2882T>C (p.Leu961Pro) c.2309T>C (p.Leu770Pro) c.2234T>C (p.Leu745Pro) c.911T>C (p.Leu304Pro) | |
| 3 | g.38894861A>T | CA352174992 | SCN11A | c.2507T>A (p.Leu836Gln) c.2327T>A (p.Leu776Gln) c.2551T>A (n.2551T>A) c.2126T>A (p.Leu709Gln) c.1844T>A (p.Leu615Gln) c.1055T>A (p.Leu352Gln) c.2882T>A (p.Leu961Gln) c.2309T>A (p.Leu770Gln) c.2234T>A (p.Leu745Gln) c.911T>A (p.Leu304Gln) | |
| 3 | g.38894862G>A | CA433336180 | SCN11A | c.2506C>T (p.Leu836=) c.2326C>T (p.Leu776=) c.2550C>T (n.2550C>T) c.2125C>T (p.Leu709=) c.1843C>T (p.Leu615=) c.1054C>T (p.Leu352=) c.2881C>T (p.Leu961=) c.2308C>T (p.Leu770=) c.2233C>T (p.Leu745=) c.910C>T (p.Leu304=) | gnomAD v4 |
| 3 | g.38894862G>C | CA352174993 | SCN11A | c.2506C>G (p.Leu836Val) c.2326C>G (p.Leu776Val) c.2550C>G (n.2550C>G) c.2125C>G (p.Leu709Val) c.1843C>G (p.Leu615Val) c.1054C>G (p.Leu352Val) c.2881C>G (p.Leu961Val) c.2308C>G (p.Leu770Val) c.2233C>G (p.Leu745Val) c.910C>G (p.Leu304Val) | |
| 3 | g.38894862G= | CA1358718265 | SCN11A | c.2506C= (p.Leu836=) c.2326C= (p.Leu776=) c.2550C= (n.2550C=) c.2125C= (p.Leu709=) c.1843C= (p.Leu615=) c.1054C= (p.Leu352=) c.2881C= (p.Leu961=) c.2308C= (p.Leu770=) c.2233C= (p.Leu745=) c.910C= (p.Leu304=) | |
| 3 | g.38894862G>T | CA2322029 | SCN11A | c.2506C>A (p.Leu836Met) c.2326C>A (p.Leu776Met) c.2550C>A (n.2550C>A) c.2125C>A (p.Leu709Met) c.1843C>A (p.Leu615Met) c.1054C>A (p.Leu352Met) c.2881C>A (p.Leu961Met) c.2308C>A (p.Leu770Met) c.2233C>A (p.Leu745Met) c.910C>A (p.Leu304Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894863del | CA2665127322 | SCN11A | c.2505del (p.Leu836TrpfsTer11) c.2325del (p.Leu776TrpfsTer11) c.2549del (n.2549del) c.2124del (p.Leu709TrpfsTer11) c.1842del (p.Leu615TrpfsTer11) c.1053del (p.Leu352TrpfsTer11) c.2880del (p.Leu961TrpfsTer11) c.2307del (p.Leu770TrpfsTer11) c.2232del (p.Leu745TrpfsTer11) c.909del (p.Leu304TrpfsTer11) | gnomAD v4 |
| 3 | g.38894863T>A | CA433336181 | SCN11A | c.2505A>T (p.Ala835=) c.2325A>T (p.Ala775=) c.2549A>T (n.2549A>T) c.2124A>T (p.Ala708=) c.1842A>T (p.Ala614=) c.1053A>T (p.Ala351=) c.2880A>T (p.Ala960=) c.2307A>T (p.Ala769=) c.2232A>T (p.Ala744=) c.909A>T (p.Ala303=) | |
| 3 | g.38894863T>C | CA433336182 | SCN11A | c.2505A>G (p.Ala835=) c.2325A>G (p.Ala775=) c.2549A>G (n.2549A>G) c.2124A>G (p.Ala708=) c.1842A>G (p.Ala614=) c.1053A>G (p.Ala351=) c.2880A>G (p.Ala960=) c.2307A>G (p.Ala769=) c.2232A>G (p.Ala744=) c.909A>G (p.Ala303=) | |
| 3 | g.38894863T>G | CA433336183 | SCN11A | c.2505A>C (p.Ala835=) c.2325A>C (p.Ala775=) c.2549A>C (n.2549A>C) c.2124A>C (p.Ala708=) c.1842A>C (p.Ala614=) c.1053A>C (p.Ala351=) c.2880A>C (p.Ala960=) c.2307A>C (p.Ala769=) c.2232A>C (p.Ala744=) c.909A>C (p.Ala303=) | ClinVar |
| 3 | g.38894863_38894864insTAGCACTGGATC | CA2665127323 | SCN11A | c.2504_2505insGATCCAGTGCTA (p.Ala836IlefsTer4) c.2324_2325insGATCCAGTGCTA (p.Ala776IlefsTer4) c.2548_2549insGATCCAGTGCTA (n.2548_2549insGATCCAGTGCTA) c.2123_2124insGATCCAGTGCTA (p.Ala709IlefsTer4) c.1841_1842insGATCCAGTGCTA (p.Ala615IlefsTer4) c.1052_1053insGATCCAGTGCTA (p.Ala352IlefsTer4) c.2879_2880insGATCCAGTGCTA (p.Ala961IlefsTer4) c.2306_2307insGATCCAGTGCTA (p.Ala770IlefsTer4) c.2231_2232insGATCCAGTGCTA (p.Ala745IlefsTer4) c.908_909insGATCCAGTGCTA (p.Ala304IlefsTer4) | gnomAD v4 |
| 3 | g.38894864G>A | CA352174994 | SCN11A | c.2504C>T (p.Ala835Val) c.2324C>T (p.Ala775Val) c.2548C>T (n.2548C>T) c.2123C>T (p.Ala708Val) c.1841C>T (p.Ala614Val) c.1052C>T (p.Ala351Val) c.2879C>T (p.Ala960Val) c.2306C>T (p.Ala769Val) c.2231C>T (p.Ala744Val) c.908C>T (p.Ala303Val) | gnomAD v4 |
| 3 | g.38894864G>C | CA352174995 | SCN11A | c.2504C>G (p.Ala835Gly) c.2324C>G (p.Ala775Gly) c.2548C>G (n.2548C>G) c.2123C>G (p.Ala708Gly) c.1841C>G (p.Ala614Gly) c.1052C>G (p.Ala351Gly) c.2879C>G (p.Ala960Gly) c.2306C>G (p.Ala769Gly) c.2231C>G (p.Ala744Gly) c.908C>G (p.Ala303Gly) | |
| 3 | g.38894864G>T | CA352174996 | SCN11A | c.2504C>A (p.Ala835Glu) c.2324C>A (p.Ala775Glu) c.2548C>A (n.2548C>A) c.2123C>A (p.Ala708Glu) c.1841C>A (p.Ala614Glu) c.1052C>A (p.Ala351Glu) c.2879C>A (p.Ala960Glu) c.2306C>A (p.Ala769Glu) c.2231C>A (p.Ala744Glu) c.908C>A (p.Ala303Glu) | |
| 3 | g.38894865C>A | CA352174999 | SCN11A | c.2503G>T (p.Ala835Ser) c.2323G>T (p.Ala775Ser) c.2547G>T (n.2547G>T) c.2122G>T (p.Ala708Ser) c.1840G>T (p.Ala614Ser) c.1051G>T (p.Ala351Ser) c.2878G>T (p.Ala960Ser) c.2305G>T (p.Ala769Ser) c.2230G>T (p.Ala744Ser) c.907G>T (p.Ala303Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894865C= | CA1358718266 | SCN11A | c.2503G= (p.Ala835=) c.2323G= (p.Ala775=) c.2547G= (n.2547G=) c.2122G= (p.Ala708=) c.1840G= (p.Ala614=) c.1051G= (p.Ala351=) c.2878G= (p.Ala960=) c.2305G= (p.Ala769=) c.2230G= (p.Ala744=) c.907G= (p.Ala303=) | |
| 3 | g.38894865C>G | CA352174998 | SCN11A | c.2503G>C (p.Ala835Pro) c.2323G>C (p.Ala775Pro) c.2547G>C (n.2547G>C) c.2122G>C (p.Ala708Pro) c.1840G>C (p.Ala614Pro) c.1051G>C (p.Ala351Pro) c.2878G>C (p.Ala960Pro) c.2305G>C (p.Ala769Pro) c.2230G>C (p.Ala744Pro) c.907G>C (p.Ala303Pro) | |
| 3 | g.38894865C>T | CA352174997 | SCN11A | c.2503G>A (p.Ala835Thr) c.2323G>A (p.Ala775Thr) c.2547G>A (n.2547G>A) c.2122G>A (p.Ala708Thr) c.1840G>A (p.Ala614Thr) c.1051G>A (p.Ala351Thr) c.2878G>A (p.Ala960Thr) c.2305G>A (p.Ala769Thr) c.2230G>A (p.Ala744Thr) c.907G>A (p.Ala303Thr) | dbSNP |
| 3 | g.38894866T>A | CA352175000 | SCN11A | c.2502A>T (p.Leu834Phe) c.2322A>T (p.Leu774Phe) c.2546A>T (n.2546A>T) c.2121A>T (p.Leu707Phe) c.1839A>T (p.Leu613Phe) c.1050A>T (p.Leu350Phe) c.2877A>T (p.Leu959Phe) c.2304A>T (p.Leu768Phe) c.2229A>T (p.Leu743Phe) c.906A>T (p.Leu302Phe) | |
| 3 | g.38894866T>C | CA433336184 | SCN11A | c.2502A>G (p.Leu834=) c.2322A>G (p.Leu774=) c.2546A>G (n.2546A>G) c.2121A>G (p.Leu707=) c.1839A>G (p.Leu613=) c.1050A>G (p.Leu350=) c.2877A>G (p.Leu959=) c.2304A>G (p.Leu768=) c.2229A>G (p.Leu743=) c.906A>G (p.Leu302=) | |
| 3 | g.38894866T>G | CA352175001 | SCN11A | c.2502A>C (p.Leu834Phe) c.2322A>C (p.Leu774Phe) c.2546A>C (n.2546A>C) c.2121A>C (p.Leu707Phe) c.1839A>C (p.Leu613Phe) c.1050A>C (p.Leu350Phe) c.2877A>C (p.Leu959Phe) c.2304A>C (p.Leu768Phe) c.2229A>C (p.Leu743Phe) c.906A>C (p.Leu302Phe) | gnomAD v4 |
| 3 | g.38894867A= | CA1358718267 | SCN11A | c.2501T= (p.Leu834=) c.2321T= (p.Leu774=) c.2545T= (n.2545T=) c.2120T= (p.Leu707=) c.1838T= (p.Leu613=) c.1049T= (p.Leu350=) c.2876T= (p.Leu959=) c.2303T= (p.Leu768=) c.2228T= (p.Leu743=) c.905T= (p.Leu302=) | |
| 3 | g.38894867A>C | CA352175002 | SCN11A | c.2501T>G (p.Leu834Ter) c.2321T>G (p.Leu774Ter) c.2545T>G (n.2545T>G) c.2120T>G (p.Leu707Ter) c.1838T>G (p.Leu613Ter) c.1049T>G (p.Leu350Ter) c.2876T>G (p.Leu959Ter) c.2303T>G (p.Leu768Ter) c.2228T>G (p.Leu743Ter) c.905T>G (p.Leu302Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38894867A>G | CA352175003 | SCN11A | c.2501T>C (p.Leu834Ser) c.2321T>C (p.Leu774Ser) c.2545T>C (n.2545T>C) c.2120T>C (p.Leu707Ser) c.1838T>C (p.Leu613Ser) c.1049T>C (p.Leu350Ser) c.2876T>C (p.Leu959Ser) c.2303T>C (p.Leu768Ser) c.2228T>C (p.Leu743Ser) c.905T>C (p.Leu302Ser) | |
| 3 | g.38894867A>T | CA352175004 | SCN11A | c.2501T>A (p.Leu834Ter) c.2321T>A (p.Leu774Ter) c.2545T>A (n.2545T>A) c.2120T>A (p.Leu707Ter) c.1838T>A (p.Leu613Ter) c.1049T>A (p.Leu350Ter) c.2876T>A (p.Leu959Ter) c.2303T>A (p.Leu768Ter) c.2228T>A (p.Leu743Ter) c.905T>A (p.Leu302Ter) | |
| 3 | g.38894868A>C | CA352175005 | SCN11A | c.2500T>G (p.Leu834Val) c.2320T>G (p.Leu774Val) c.2544T>G (n.2544T>G) c.2119T>G (p.Leu707Val) c.1837T>G (p.Leu613Val) c.1048T>G (p.Leu350Val) c.2875T>G (p.Leu959Val) c.2302T>G (p.Leu768Val) c.2227T>G (p.Leu743Val) c.904T>G (p.Leu302Val) | |
| 3 | g.38894868A>G | CA433336185 | SCN11A | c.2500T>C (p.Leu834=) c.2320T>C (p.Leu774=) c.2544T>C (n.2544T>C) c.2119T>C (p.Leu707=) c.1837T>C (p.Leu613=) c.1048T>C (p.Leu350=) c.2875T>C (p.Leu959=) c.2302T>C (p.Leu768=) c.2227T>C (p.Leu743=) c.904T>C (p.Leu302=) | |
| 3 | g.38894868A>T | CA352175006 | SCN11A | c.2500T>A (p.Leu834Ile) c.2320T>A (p.Leu774Ile) c.2544T>A (n.2544T>A) c.2119T>A (p.Leu707Ile) c.1837T>A (p.Leu613Ile) c.1048T>A (p.Leu350Ile) c.2875T>A (p.Leu959Ile) c.2302T>A (p.Leu768Ile) c.2227T>A (p.Leu743Ile) c.904T>A (p.Leu302Ile) | |
| 3 | g.38894869C>A | CA352175007 | SCN11A | c.2499G>T (p.Gln833His) c.2319G>T (p.Gln773His) c.2543G>T (n.2543G>T) c.2118G>T (p.Gln706His) c.1836G>T (p.Gln612His) c.1047G>T (p.Gln349His) c.2874G>T (p.Gln958His) c.2301G>T (p.Gln767His) c.2226G>T (p.Gln742His) c.903G>T (p.Gln301His) | |
| 3 | g.38894869C>G | CA352175008 | SCN11A | c.2499G>C (p.Gln833His) c.2319G>C (p.Gln773His) c.2543G>C (n.2543G>C) c.2118G>C (p.Gln706His) c.1836G>C (p.Gln612His) c.1047G>C (p.Gln349His) c.2874G>C (p.Gln958His) c.2301G>C (p.Gln767His) c.2226G>C (p.Gln742His) c.903G>C (p.Gln301His) | |
| 3 | g.38894869C>T | CA433336189 | SCN11A | c.2499G>A (p.Gln833=) c.2319G>A (p.Gln773=) c.2543G>A (n.2543G>A) c.2118G>A (p.Gln706=) c.1836G>A (p.Gln612=) c.1047G>A (p.Gln349=) c.2874G>A (p.Gln958=) c.2301G>A (p.Gln767=) c.2226G>A (p.Gln742=) c.903G>A (p.Gln301=) | |
| 3 | g.38894870T>A | CA352175009 | SCN11A | c.2498A>T (p.Gln833Leu) c.2318A>T (p.Gln773Leu) c.2542A>T (n.2542A>T) c.2117A>T (p.Gln706Leu) c.1835A>T (p.Gln612Leu) c.1046A>T (p.Gln349Leu) c.2873A>T (p.Gln958Leu) c.2300A>T (p.Gln767Leu) c.2225A>T (p.Gln742Leu) c.902A>T (p.Gln301Leu) | gnomAD v4 |
| 3 | g.38894870T>C | CA352175010 | SCN11A | c.2498A>G (p.Gln833Arg) c.2318A>G (p.Gln773Arg) c.2542A>G (n.2542A>G) c.2117A>G (p.Gln706Arg) c.1835A>G (p.Gln612Arg) c.1046A>G (p.Gln349Arg) c.2873A>G (p.Gln958Arg) c.2300A>G (p.Gln767Arg) c.2225A>G (p.Gln742Arg) c.902A>G (p.Gln301Arg) | |
| 3 | g.38894870T>G | CA352175011 | SCN11A | c.2498A>C (p.Gln833Pro) c.2318A>C (p.Gln773Pro) c.2542A>C (n.2542A>C) c.2117A>C (p.Gln706Pro) c.1835A>C (p.Gln612Pro) c.1046A>C (p.Gln349Pro) c.2873A>C (p.Gln958Pro) c.2300A>C (p.Gln767Pro) c.2225A>C (p.Gln742Pro) c.902A>C (p.Gln301Pro) | |
| 3 | g.38894871G>A | CA352175014 | SCN11A | c.2497C>T (p.Gln833Ter) c.2317C>T (p.Gln773Ter) c.2541C>T (n.2541C>T) c.2116C>T (p.Gln706Ter) c.1834C>T (p.Gln612Ter) c.1045C>T (p.Gln349Ter) c.2872C>T (p.Gln958Ter) c.2299C>T (p.Gln767Ter) c.2224C>T (p.Gln742Ter) c.901C>T (p.Gln301Ter) | COSMIC |
| 3 | g.38894871G>C | CA352175013 | SCN11A | c.2497C>G (p.Gln833Glu) c.2317C>G (p.Gln773Glu) c.2541C>G (n.2541C>G) c.2116C>G (p.Gln706Glu) c.1834C>G (p.Gln612Glu) c.1045C>G (p.Gln349Glu) c.2872C>G (p.Gln958Glu) c.2299C>G (p.Gln767Glu) c.2224C>G (p.Gln742Glu) c.901C>G (p.Gln301Glu) | |
| 3 | g.38894871G>T | CA352175012 | SCN11A | c.2497C>A (p.Gln833Lys) c.2317C>A (p.Gln773Lys) c.2541C>A (n.2541C>A) c.2116C>A (p.Gln706Lys) c.1834C>A (p.Gln612Lys) c.1045C>A (p.Gln349Lys) c.2872C>A (p.Gln958Lys) c.2299C>A (p.Gln767Lys) c.2224C>A (p.Gln742Lys) c.901C>A (p.Gln301Lys) | |
| 3 | g.38894872G>A | CA433336191 | SCN11A | c.2496C>T (p.Val832=) c.2316C>T (p.Val772=) c.2540C>T (n.2540C>T) c.2115C>T (p.Val705=) c.1833C>T (p.Val611=) c.1044C>T (p.Val348=) c.2871C>T (p.Val957=) c.2298C>T (p.Val766=) c.2223C>T (p.Val741=) c.900C>T (p.Val300=) | |
| 3 | g.38894872G>C | CA72997830 | SCN11A | c.2496C>G (p.Val832=) c.2316C>G (p.Val772=) c.2540C>G (n.2540C>G) c.2115C>G (p.Val705=) c.1833C>G (p.Val611=) c.1044C>G (p.Val348=) c.2871C>G (p.Val957=) c.2298C>G (p.Val766=) c.2223C>G (p.Val741=) c.900C>G (p.Val300=) | dbSNP |
| 3 | g.38894872G= | CA1358718268 | SCN11A | c.2496C= (p.Val832=) c.2316C= (p.Val772=) c.2540C= (n.2540C=) c.2115C= (p.Val705=) c.1833C= (p.Val611=) c.1044C= (p.Val348=) c.2871C= (p.Val957=) c.2298C= (p.Val766=) c.2223C= (p.Val741=) c.900C= (p.Val300=) |