Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38894762A>C | CA352174767 | SCN11A | c.2606T>G (p.Val869Gly) c.2426T>G (p.Val809Gly) c.2650T>G (n.2650T>G) c.2225T>G (p.Val742Gly) c.1943T>G (p.Val648Gly) c.1154T>G (p.Val385Gly) c.2981T>G (p.Val994Gly) c.2408T>G (p.Val803Gly) c.2333T>G (p.Val778Gly) c.1010T>G (p.Val337Gly) | |
3 | g.38894762A>G | CA352174768 | SCN11A | c.2606T>C (p.Val869Ala) c.2426T>C (p.Val809Ala) c.2650T>C (n.2650T>C) c.2225T>C (p.Val742Ala) c.1943T>C (p.Val648Ala) c.1154T>C (p.Val385Ala) c.2981T>C (p.Val994Ala) c.2408T>C (p.Val803Ala) c.2333T>C (p.Val778Ala) c.1010T>C (p.Val337Ala) | |
3 | g.38894762A>T | CA352174769 | SCN11A | c.2606T>A (p.Val869Glu) c.2426T>A (p.Val809Glu) c.2650T>A (n.2650T>A) c.2225T>A (p.Val742Glu) c.1943T>A (p.Val648Glu) c.1154T>A (p.Val385Glu) c.2981T>A (p.Val994Glu) c.2408T>A (p.Val803Glu) c.2333T>A (p.Val778Glu) c.1010T>A (p.Val337Glu) | |
3 | g.38894763C>A | CA352174770 | SCN11A | c.2605G>T (p.Val869Leu) c.2425G>T (p.Val809Leu) c.2649G>T (n.2649G>T) c.2224G>T (p.Val742Leu) c.1942G>T (p.Val648Leu) c.1153G>T (p.Val385Leu) c.2980G>T (p.Val994Leu) c.2407G>T (p.Val803Leu) c.2332G>T (p.Val778Leu) c.1009G>T (p.Val337Leu) | |
3 | g.38894763C>G | CA352174771 | SCN11A | c.2605G>C (p.Val869Leu) c.2425G>C (p.Val809Leu) c.2649G>C (n.2649G>C) c.2224G>C (p.Val742Leu) c.1942G>C (p.Val648Leu) c.1153G>C (p.Val385Leu) c.2980G>C (p.Val994Leu) c.2407G>C (p.Val803Leu) c.2332G>C (p.Val778Leu) c.1009G>C (p.Val337Leu) | |
3 | g.38894763C>T | CA352174772 | SCN11A | c.2605G>A (p.Val869Met) c.2425G>A (p.Val809Met) c.2649G>A (n.2649G>A) c.2224G>A (p.Val742Met) c.1942G>A (p.Val648Met) c.1153G>A (p.Val385Met) c.2980G>A (p.Val994Met) c.2407G>A (p.Val803Met) c.2332G>A (p.Val778Met) c.1009G>A (p.Val337Met) | |
3 | g.38894764C>A | CA352174773 | SCN11A | c.2604G>T (p.Glu868Asp) c.2424G>T (p.Glu808Asp) c.2648G>T (n.2648G>T) c.2223G>T (p.Glu741Asp) c.1941G>T (p.Glu647Asp) c.1152G>T (p.Glu384Asp) c.2979G>T (p.Glu993Asp) c.2406G>T (p.Glu802Asp) c.2331G>T (p.Glu777Asp) c.1008G>T (p.Glu336Asp) | |
3 | g.38894764C>G | CA352174774 | SCN11A | c.2604G>C (p.Glu868Asp) c.2424G>C (p.Glu808Asp) c.2648G>C (n.2648G>C) c.2223G>C (p.Glu741Asp) c.1941G>C (p.Glu647Asp) c.1152G>C (p.Glu384Asp) c.2979G>C (p.Glu993Asp) c.2406G>C (p.Glu802Asp) c.2331G>C (p.Glu777Asp) c.1008G>C (p.Glu336Asp) | |
3 | g.38894764C>T | CA433336112 | SCN11A | c.2604G>A (p.Glu868=) c.2424G>A (p.Glu808=) c.2648G>A (n.2648G>A) c.2223G>A (p.Glu741=) c.1941G>A (p.Glu647=) c.1152G>A (p.Glu384=) c.2979G>A (p.Glu993=) c.2406G>A (p.Glu802=) c.2331G>A (p.Glu777=) c.1008G>A (p.Glu336=) | |
3 | g.38894765T>A | CA352174775 | SCN11A | c.2603A>T (p.Glu868Val) c.2423A>T (p.Glu808Val) c.2647A>T (n.2647A>T) c.2222A>T (p.Glu741Val) c.1940A>T (p.Glu647Val) c.1151A>T (p.Glu384Val) c.2978A>T (p.Glu993Val) c.2405A>T (p.Glu802Val) c.2330A>T (p.Glu777Val) c.1007A>T (p.Glu336Val) | |
3 | g.38894765T>C | CA352174776 | SCN11A | c.2603A>G (p.Glu868Gly) c.2423A>G (p.Glu808Gly) c.2647A>G (n.2647A>G) c.2222A>G (p.Glu741Gly) c.1940A>G (p.Glu647Gly) c.1151A>G (p.Glu384Gly) c.2978A>G (p.Glu993Gly) c.2405A>G (p.Glu802Gly) c.2330A>G (p.Glu777Gly) c.1007A>G (p.Glu336Gly) | ClinVar gnomAD v4 |
3 | g.38894765T>G | CA352174777 | SCN11A | c.2603A>C (p.Glu868Ala) c.2423A>C (p.Glu808Ala) c.2647A>C (n.2647A>C) c.2222A>C (p.Glu741Ala) c.1940A>C (p.Glu647Ala) c.1151A>C (p.Glu384Ala) c.2978A>C (p.Glu993Ala) c.2405A>C (p.Glu802Ala) c.2330A>C (p.Glu777Ala) c.1007A>C (p.Glu336Ala) | |
3 | g.38894766C>A | CA352174778 | SCN11A | c.2602G>T (p.Glu868Ter) c.2422G>T (p.Glu808Ter) c.2646G>T (n.2646G>T) c.2221G>T (p.Glu741Ter) c.1939G>T (p.Glu647Ter) c.1150G>T (p.Glu384Ter) c.2977G>T (p.Glu993Ter) c.2404G>T (p.Glu802Ter) c.2329G>T (p.Glu777Ter) c.1006G>T (p.Glu336Ter) | dbSNP |
3 | g.38894766C= | CA1358718209 | SCN11A | c.2602G= (p.Glu868=) c.2422G= (p.Glu808=) c.2646G= (n.2646G=) c.2221G= (p.Glu741=) c.1939G= (p.Glu647=) c.1150G= (p.Glu384=) c.2977G= (p.Glu993=) c.2404G= (p.Glu802=) c.2329G= (p.Glu777=) c.1006G= (p.Glu336=) | |
3 | g.38894766C>G | CA352174779 | SCN11A | c.2602G>C (p.Glu868Gln) c.2422G>C (p.Glu808Gln) c.2646G>C (n.2646G>C) c.2221G>C (p.Glu741Gln) c.1939G>C (p.Glu647Gln) c.1150G>C (p.Glu384Gln) c.2977G>C (p.Glu993Gln) c.2404G>C (p.Glu802Gln) c.2329G>C (p.Glu777Gln) c.1006G>C (p.Glu336Gln) | dbSNP gnomAD v4 |
3 | g.38894766C>T | CA352174780 | SCN11A | c.2602G>A (p.Glu868Lys) c.2422G>A (p.Glu808Lys) c.2646G>A (n.2646G>A) c.2221G>A (p.Glu741Lys) c.1939G>A (p.Glu647Lys) c.1150G>A (p.Glu384Lys) c.2977G>A (p.Glu993Lys) c.2404G>A (p.Glu802Lys) c.2329G>A (p.Glu777Lys) c.1006G>A (p.Glu336Lys) | |
3 | g.38894767T>A | CA352174782 | SCN11A | c.2601A>T (p.Lys867Asn) c.2421A>T (p.Lys807Asn) c.2645A>T (n.2645A>T) c.2220A>T (p.Lys740Asn) c.1938A>T (p.Lys646Asn) c.1149A>T (p.Lys383Asn) c.2976A>T (p.Lys992Asn) c.2403A>T (p.Lys801Asn) c.2328A>T (p.Lys776Asn) c.1005A>T (p.Lys335Asn) | |
3 | g.38894767T>C | CA433336113 | SCN11A | c.2601A>G (p.Lys867=) c.2421A>G (p.Lys807=) c.2645A>G (n.2645A>G) c.2220A>G (p.Lys740=) c.1938A>G (p.Lys646=) c.1149A>G (p.Lys383=) c.2976A>G (p.Lys992=) c.2403A>G (p.Lys801=) c.2328A>G (p.Lys776=) c.1005A>G (p.Lys335=) | |
3 | g.38894767T>G | CA352174781 | SCN11A | c.2601A>C (p.Lys867Asn) c.2421A>C (p.Lys807Asn) c.2645A>C (n.2645A>C) c.2220A>C (p.Lys740Asn) c.1938A>C (p.Lys646Asn) c.1149A>C (p.Lys383Asn) c.2976A>C (p.Lys992Asn) c.2403A>C (p.Lys801Asn) c.2328A>C (p.Lys776Asn) c.1005A>C (p.Lys335Asn) | |
3 | g.38894771dup | CA2839748582 | SCN11A | c.2601dup (p.Glu868ArgfsTer?) c.2421dup (p.Glu808ArgfsTer?) c.2645dup (n.2645dup) c.2220dup (p.Glu741ArgfsTer?) c.1938dup (p.Glu647ArgfsTer?) c.1149dup (p.Glu384ArgfsTer?) c.2976dup (p.Glu993ArgfsTer?) c.2403dup (p.Glu802ArgfsTer?) c.2328dup (p.Glu777ArgfsTer?) c.1005dup (p.Glu336ArgfsTer?) | |
3 | g.38894768T>A | CA352174783 | SCN11A | c.2600A>T (p.Lys867Ile) c.2420A>T (p.Lys807Ile) c.2644A>T (n.2644A>T) c.2219A>T (p.Lys740Ile) c.1937A>T (p.Lys646Ile) c.1148A>T (p.Lys383Ile) c.2975A>T (p.Lys992Ile) c.2402A>T (p.Lys801Ile) c.2327A>T (p.Lys776Ile) c.1004A>T (p.Lys335Ile) | |
3 | g.38894768T>C | CA352174784 | SCN11A | c.2600A>G (p.Lys867Arg) c.2420A>G (p.Lys807Arg) c.2644A>G (n.2644A>G) c.2219A>G (p.Lys740Arg) c.1937A>G (p.Lys646Arg) c.1148A>G (p.Lys383Arg) c.2975A>G (p.Lys992Arg) c.2402A>G (p.Lys801Arg) c.2327A>G (p.Lys776Arg) c.1004A>G (p.Lys335Arg) | |
3 | g.38894768T>G | CA352174785 | SCN11A | c.2600A>C (p.Lys867Thr) c.2420A>C (p.Lys807Thr) c.2644A>C (n.2644A>C) c.2219A>C (p.Lys740Thr) c.1937A>C (p.Lys646Thr) c.1148A>C (p.Lys383Thr) c.2975A>C (p.Lys992Thr) c.2402A>C (p.Lys801Thr) c.2327A>C (p.Lys776Thr) c.1004A>C (p.Lys335Thr) | |
3 | g.38894769T>A | CA352174786 | SCN11A | c.2599A>T (p.Lys867Ter) c.2419A>T (p.Lys807Ter) c.2643A>T (n.2643A>T) c.2218A>T (p.Lys740Ter) c.1936A>T (p.Lys646Ter) c.1147A>T (p.Lys383Ter) c.2974A>T (p.Lys992Ter) c.2401A>T (p.Lys801Ter) c.2326A>T (p.Lys776Ter) c.1003A>T (p.Lys335Ter) | dbSNP |
3 | g.38894769T>C | CA352174787 | SCN11A | c.2599A>G (p.Lys867Glu) c.2419A>G (p.Lys807Glu) c.2643A>G (n.2643A>G) c.2218A>G (p.Lys740Glu) c.1936A>G (p.Lys646Glu) c.1147A>G (p.Lys383Glu) c.2974A>G (p.Lys992Glu) c.2401A>G (p.Lys801Glu) c.2326A>G (p.Lys776Glu) c.1003A>G (p.Lys335Glu) | |
3 | g.38894769T>G | CA352174788 | SCN11A | c.2599A>C (p.Lys867Gln) c.2419A>C (p.Lys807Gln) c.2643A>C (n.2643A>C) c.2218A>C (p.Lys740Gln) c.1936A>C (p.Lys646Gln) c.1147A>C (p.Lys383Gln) c.2974A>C (p.Lys992Gln) c.2401A>C (p.Lys801Gln) c.2326A>C (p.Lys776Gln) c.1003A>C (p.Lys335Gln) | COSMIC |
3 | g.38894769T= | CA1358718210 | SCN11A | c.2599A= (p.Lys867=) c.2419A= (p.Lys807=) c.2643A= (n.2643A=) c.2218A= (p.Lys740=) c.1936A= (p.Lys646=) c.1147A= (p.Lys383=) c.2974A= (p.Lys992=) c.2401A= (p.Lys801=) c.2326A= (p.Lys776=) c.1003A= (p.Lys335=) | |
3 | g.38894770T>A | CA352174789 | SCN11A | c.2598A>T (p.Gln866His) c.2418A>T (p.Gln806His) c.2642A>T (n.2642A>T) c.2217A>T (p.Gln739His) c.1935A>T (p.Gln645His) c.1146A>T (p.Gln382His) c.2973A>T (p.Gln991His) c.2400A>T (p.Gln800His) c.2325A>T (p.Gln775His) c.1002A>T (p.Gln334His) | |
3 | g.38894770T>C | CA433336114 | SCN11A | c.2598A>G (p.Gln866=) c.2418A>G (p.Gln806=) c.2642A>G (n.2642A>G) c.2217A>G (p.Gln739=) c.1935A>G (p.Gln645=) c.1146A>G (p.Gln382=) c.2973A>G (p.Gln991=) c.2400A>G (p.Gln800=) c.2325A>G (p.Gln775=) c.1002A>G (p.Gln334=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894770T>G | CA352174790 | SCN11A | c.2598A>C (p.Gln866His) c.2418A>C (p.Gln806His) c.2642A>C (n.2642A>C) c.2217A>C (p.Gln739His) c.1935A>C (p.Gln645His) c.1146A>C (p.Gln382His) c.2973A>C (p.Gln991His) c.2400A>C (p.Gln800His) c.2325A>C (p.Gln775His) c.1002A>C (p.Gln334His) | COSMIC |
3 | g.38894770T= | CA1358718211 | SCN11A | c.2598A= (p.Gln866=) c.2418A= (p.Gln806=) c.2642A= (n.2642A=) c.2217A= (p.Gln739=) c.1935A= (p.Gln645=) c.1146A= (p.Gln382=) c.2973A= (p.Gln991=) c.2400A= (p.Gln800=) c.2325A= (p.Gln775=) c.1002A= (p.Gln334=) | |
3 | g.38894771T>A | CA352174791 | SCN11A | c.2597A>T (p.Gln866Leu) c.2417A>T (p.Gln806Leu) c.2641A>T (n.2641A>T) c.2216A>T (p.Gln739Leu) c.1934A>T (p.Gln645Leu) c.1145A>T (p.Gln382Leu) c.2972A>T (p.Gln991Leu) c.2399A>T (p.Gln800Leu) c.2324A>T (p.Gln775Leu) c.1001A>T (p.Gln334Leu) | |
3 | g.38894771T>C | CA352174792 | SCN11A | c.2597A>G (p.Gln866Arg) c.2417A>G (p.Gln806Arg) c.2641A>G (n.2641A>G) c.2216A>G (p.Gln739Arg) c.1934A>G (p.Gln645Arg) c.1145A>G (p.Gln382Arg) c.2972A>G (p.Gln991Arg) c.2399A>G (p.Gln800Arg) c.2324A>G (p.Gln775Arg) c.1001A>G (p.Gln334Arg) | |
3 | g.38894771T>G | CA352174793 | SCN11A | c.2597A>C (p.Gln866Pro) c.2417A>C (p.Gln806Pro) c.2641A>C (n.2641A>C) c.2216A>C (p.Gln739Pro) c.1934A>C (p.Gln645Pro) c.1145A>C (p.Gln382Pro) c.2972A>C (p.Gln991Pro) c.2399A>C (p.Gln800Pro) c.2324A>C (p.Gln775Pro) c.1001A>C (p.Gln334Pro) | |
3 | g.38894772G>A | CA352174794 | SCN11A | c.2596C>T (p.Gln866Ter) c.2416C>T (p.Gln806Ter) c.2640C>T (n.2640C>T) c.2215C>T (p.Gln739Ter) c.1933C>T (p.Gln645Ter) c.1144C>T (p.Gln382Ter) c.2971C>T (p.Gln991Ter) c.2398C>T (p.Gln800Ter) c.2323C>T (p.Gln775Ter) c.1000C>T (p.Gln334Ter) | ClinVar dbSNP |
3 | g.38894772G>C | CA2322009 | SCN11A | c.2596C>G (p.Gln866Glu) c.2416C>G (p.Gln806Glu) c.2640C>G (n.2640C>G) c.2215C>G (p.Gln739Glu) c.1933C>G (p.Gln645Glu) c.1144C>G (p.Gln382Glu) c.2971C>G (p.Gln991Glu) c.2398C>G (p.Gln800Glu) c.2323C>G (p.Gln775Glu) c.1000C>G (p.Gln334Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894772G= | CA1358718212 | SCN11A | c.2596C= (p.Gln866=) c.2416C= (p.Gln806=) c.2640C= (n.2640C=) c.2215C= (p.Gln739=) c.1933C= (p.Gln645=) c.1144C= (p.Gln382=) c.2971C= (p.Gln991=) c.2398C= (p.Gln800=) c.2323C= (p.Gln775=) c.1000C= (p.Gln334=) | |
3 | g.38894772G>T | CA352174795 | SCN11A | c.2596C>A (p.Gln866Lys) c.2416C>A (p.Gln806Lys) c.2640C>A (n.2640C>A) c.2215C>A (p.Gln739Lys) c.1933C>A (p.Gln645Lys) c.1144C>A (p.Gln382Lys) c.2971C>A (p.Gln991Lys) c.2398C>A (p.Gln800Lys) c.2323C>A (p.Gln775Lys) c.1000C>A (p.Gln334Lys) | gnomAD v4 |
3 | g.38894773C>A | CA352174797 | SCN11A | c.2595G>T (p.Gln865His) c.2415G>T (p.Gln805His) c.2639G>T (n.2639G>T) c.2214G>T (p.Gln738His) c.1932G>T (p.Gln644His) c.1143G>T (p.Gln381His) c.2970G>T (p.Gln990His) c.2397G>T (p.Gln799His) c.2322G>T (p.Gln774His) c.999G>T (p.Gln333His) | |
3 | g.38894773C= | CA1358718213 | SCN11A | c.2595G= (p.Gln865=) c.2415G= (p.Gln805=) c.2639G= (n.2639G=) c.2214G= (p.Gln738=) c.1932G= (p.Gln644=) c.1143G= (p.Gln381=) c.2970G= (p.Gln990=) c.2397G= (p.Gln799=) c.2322G= (p.Gln774=) c.999G= (p.Gln333=) | |
3 | g.38894773C>G | CA352174796 | SCN11A | c.2595G>C (p.Gln865His) c.2415G>C (p.Gln805His) c.2639G>C (n.2639G>C) c.2214G>C (p.Gln738His) c.1932G>C (p.Gln644His) c.1143G>C (p.Gln381His) c.2970G>C (p.Gln990His) c.2397G>C (p.Gln799His) c.2322G>C (p.Gln774His) c.999G>C (p.Gln333His) | |
3 | g.38894773C>T | CA2322010 | SCN11A | c.2595G>A (p.Gln865=) c.2415G>A (p.Gln805=) c.2639G>A (n.2639G>A) c.2214G>A (p.Gln738=) c.1932G>A (p.Gln644=) c.1143G>A (p.Gln381=) c.2970G>A (p.Gln990=) c.2397G>A (p.Gln799=) c.2322G>A (p.Gln774=) c.999G>A (p.Gln333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894774T>A | CA352174798 | SCN11A | c.2594A>T (p.Gln865Leu) c.2414A>T (p.Gln805Leu) c.2638A>T (n.2638A>T) c.2213A>T (p.Gln738Leu) c.1931A>T (p.Gln644Leu) c.1142A>T (p.Gln381Leu) c.2969A>T (p.Gln990Leu) c.2396A>T (p.Gln799Leu) c.2321A>T (p.Gln774Leu) c.998A>T (p.Gln333Leu) | |
3 | g.38894774T>C | CA352174799 | SCN11A | c.2594A>G (p.Gln865Arg) c.2414A>G (p.Gln805Arg) c.2638A>G (n.2638A>G) c.2213A>G (p.Gln738Arg) c.1931A>G (p.Gln644Arg) c.1142A>G (p.Gln381Arg) c.2969A>G (p.Gln990Arg) c.2396A>G (p.Gln799Arg) c.2321A>G (p.Gln774Arg) c.998A>G (p.Gln333Arg) | dbSNP gnomAD v4 |
3 | g.38894774T>G | CA352174800 | SCN11A | c.2594A>C (p.Gln865Pro) c.2414A>C (p.Gln805Pro) c.2638A>C (n.2638A>C) c.2213A>C (p.Gln738Pro) c.1931A>C (p.Gln644Pro) c.1142A>C (p.Gln381Pro) c.2969A>C (p.Gln990Pro) c.2396A>C (p.Gln799Pro) c.2321A>C (p.Gln774Pro) c.998A>C (p.Gln333Pro) | dbSNP |
3 | g.38894774T= | CA1358718214 | SCN11A | c.2594A= (p.Gln865=) c.2414A= (p.Gln805=) c.2638A= (n.2638A=) c.2213A= (p.Gln738=) c.1931A= (p.Gln644=) c.1142A= (p.Gln381=) c.2969A= (p.Gln990=) c.2396A= (p.Gln799=) c.2321A= (p.Gln774=) c.998A= (p.Gln333=) | |
3 | g.38894775G>A | CA352174801 | SCN11A | c.2593C>T (p.Gln865Ter) c.2413C>T (p.Gln805Ter) c.2637C>T (n.2637C>T) c.2212C>T (p.Gln738Ter) c.1930C>T (p.Gln644Ter) c.1141C>T (p.Gln381Ter) c.2968C>T (p.Gln990Ter) c.2395C>T (p.Gln799Ter) c.2320C>T (p.Gln774Ter) c.997C>T (p.Gln333Ter) | dbSNP |
3 | g.38894775G>C | CA352174802 | SCN11A | c.2593C>G (p.Gln865Glu) c.2413C>G (p.Gln805Glu) c.2637C>G (n.2637C>G) c.2212C>G (p.Gln738Glu) c.1930C>G (p.Gln644Glu) c.1141C>G (p.Gln381Glu) c.2968C>G (p.Gln990Glu) c.2395C>G (p.Gln799Glu) c.2320C>G (p.Gln774Glu) c.997C>G (p.Gln333Glu) | |
3 | g.38894775G= | CA1358718215 | SCN11A | c.2593C= (p.Gln865=) c.2413C= (p.Gln805=) c.2637C= (n.2637C=) c.2212C= (p.Gln738=) c.1930C= (p.Gln644=) c.1141C= (p.Gln381=) c.2968C= (p.Gln990=) c.2395C= (p.Gln799=) c.2320C= (p.Gln774=) c.997C= (p.Gln333=) | |
3 | g.38894775G>T | CA352174803 | SCN11A | c.2593C>A (p.Gln865Lys) c.2413C>A (p.Gln805Lys) c.2637C>A (n.2637C>A) c.2212C>A (p.Gln738Lys) c.1930C>A (p.Gln644Lys) c.1141C>A (p.Gln381Lys) c.2968C>A (p.Gln990Lys) c.2395C>A (p.Gln799Lys) c.2320C>A (p.Gln774Lys) c.997C>A (p.Gln333Lys) | |
3 | g.38894776T>A | CA433336117 | SCN11A | c.2592A>T (p.Pro864=) c.2412A>T (p.Pro804=) c.2636A>T (n.2636A>T) c.2211A>T (p.Pro737=) c.1929A>T (p.Pro643=) c.1140A>T (p.Pro380=) c.2967A>T (p.Pro989=) c.2394A>T (p.Pro798=) c.2319A>T (p.Pro773=) c.996A>T (p.Pro332=) | gnomAD v4 |
3 | g.38894776T>C | CA433336115 | SCN11A | c.2592A>G (p.Pro864=) c.2412A>G (p.Pro804=) c.2636A>G (n.2636A>G) c.2211A>G (p.Pro737=) c.1929A>G (p.Pro643=) c.1140A>G (p.Pro380=) c.2967A>G (p.Pro989=) c.2394A>G (p.Pro798=) c.2319A>G (p.Pro773=) c.996A>G (p.Pro332=) | |
3 | g.38894776T>G | CA433336116 | SCN11A | c.2592A>C (p.Pro864=) c.2412A>C (p.Pro804=) c.2636A>C (n.2636A>C) c.2211A>C (p.Pro737=) c.1929A>C (p.Pro643=) c.1140A>C (p.Pro380=) c.2967A>C (p.Pro989=) c.2394A>C (p.Pro798=) c.2319A>C (p.Pro773=) c.996A>C (p.Pro332=) | |
3 | g.38894777G>A | CA352174804 | SCN11A | c.2591C>T (p.Pro864Leu) c.2411C>T (p.Pro804Leu) c.2635C>T (n.2635C>T) c.2210C>T (p.Pro737Leu) c.1928C>T (p.Pro643Leu) c.1139C>T (p.Pro380Leu) c.2966C>T (p.Pro989Leu) c.2393C>T (p.Pro798Leu) c.2318C>T (p.Pro773Leu) c.995C>T (p.Pro332Leu) | gnomAD v4 |
3 | g.38894777G>C | CA352174805 | SCN11A | c.2591C>G (p.Pro864Arg) c.2411C>G (p.Pro804Arg) c.2635C>G (n.2635C>G) c.2210C>G (p.Pro737Arg) c.1928C>G (p.Pro643Arg) c.1139C>G (p.Pro380Arg) c.2966C>G (p.Pro989Arg) c.2393C>G (p.Pro798Arg) c.2318C>G (p.Pro773Arg) c.995C>G (p.Pro332Arg) | |
3 | g.38894777G>T | CA352174806 | SCN11A | c.2591C>A (p.Pro864Gln) c.2411C>A (p.Pro804Gln) c.2635C>A (n.2635C>A) c.2210C>A (p.Pro737Gln) c.1928C>A (p.Pro643Gln) c.1139C>A (p.Pro380Gln) c.2966C>A (p.Pro989Gln) c.2393C>A (p.Pro798Gln) c.2318C>A (p.Pro773Gln) c.995C>A (p.Pro332Gln) | |
3 | g.38894778G>A | CA2322011 | SCN11A | c.2590C>T (p.Pro864Ser) c.2410C>T (p.Pro804Ser) c.2634C>T (n.2634C>T) c.2209C>T (p.Pro737Ser) c.1927C>T (p.Pro643Ser) c.1138C>T (p.Pro380Ser) c.2965C>T (p.Pro989Ser) c.2392C>T (p.Pro798Ser) c.2317C>T (p.Pro773Ser) c.994C>T (p.Pro332Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894778G>C | CA352174807 | SCN11A | c.2590C>G (p.Pro864Ala) c.2410C>G (p.Pro804Ala) c.2634C>G (n.2634C>G) c.2209C>G (p.Pro737Ala) c.1927C>G (p.Pro643Ala) c.1138C>G (p.Pro380Ala) c.2965C>G (p.Pro989Ala) c.2392C>G (p.Pro798Ala) c.2317C>G (p.Pro773Ala) c.994C>G (p.Pro332Ala) | |
3 | g.38894778G= | CA1358718216 | SCN11A | c.2590C= (p.Pro864=) c.2410C= (p.Pro804=) c.2634C= (n.2634C=) c.2209C= (p.Pro737=) c.1927C= (p.Pro643=) c.1138C= (p.Pro380=) c.2965C= (p.Pro989=) c.2392C= (p.Pro798=) c.2317C= (p.Pro773=) c.994C= (p.Pro332=) | |
3 | g.38894778G>T | CA352174808 | SCN11A | c.2590C>A (p.Pro864Thr) c.2410C>A (p.Pro804Thr) c.2634C>A (n.2634C>A) c.2209C>A (p.Pro737Thr) c.1927C>A (p.Pro643Thr) c.1138C>A (p.Pro380Thr) c.2965C>A (p.Pro989Thr) c.2392C>A (p.Pro798Thr) c.2317C>A (p.Pro773Thr) c.994C>A (p.Pro332Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894779T>A | CA352174809 | SCN11A | c.2589A>T (p.Leu863Phe) c.2409A>T (p.Leu803Phe) c.2633A>T (n.2633A>T) c.2208A>T (p.Leu736Phe) c.1926A>T (p.Leu642Phe) c.1137A>T (p.Leu379Phe) c.2964A>T (p.Leu988Phe) c.2391A>T (p.Leu797Phe) c.2316A>T (p.Leu772Phe) c.993A>T (p.Leu331Phe) | |
3 | g.38894779T>C | CA433336118 | SCN11A | c.2589A>G (p.Leu863=) c.2409A>G (p.Leu803=) c.2633A>G (n.2633A>G) c.2208A>G (p.Leu736=) c.1926A>G (p.Leu642=) c.1137A>G (p.Leu379=) c.2964A>G (p.Leu988=) c.2391A>G (p.Leu797=) c.2316A>G (p.Leu772=) c.993A>G (p.Leu331=) | |
3 | g.38894779T>G | CA352174810 | SCN11A | c.2589A>C (p.Leu863Phe) c.2409A>C (p.Leu803Phe) c.2633A>C (n.2633A>C) c.2208A>C (p.Leu736Phe) c.1926A>C (p.Leu642Phe) c.1137A>C (p.Leu379Phe) c.2964A>C (p.Leu988Phe) c.2391A>C (p.Leu797Phe) c.2316A>C (p.Leu772Phe) c.993A>C (p.Leu331Phe) | |
3 | g.38894780A>C | CA352174812 | SCN11A | c.2588T>G (p.Leu863Ter) c.2408T>G (p.Leu803Ter) c.2632T>G (n.2632T>G) c.2207T>G (p.Leu736Ter) c.1925T>G (p.Leu642Ter) c.1136T>G (p.Leu379Ter) c.2963T>G (p.Leu988Ter) c.2390T>G (p.Leu797Ter) c.2315T>G (p.Leu772Ter) c.992T>G (p.Leu331Ter) | |
3 | g.38894780A>G | CA352174813 | SCN11A | c.2588T>C (p.Leu863Ser) c.2408T>C (p.Leu803Ser) c.2632T>C (n.2632T>C) c.2207T>C (p.Leu736Ser) c.1925T>C (p.Leu642Ser) c.1136T>C (p.Leu379Ser) c.2963T>C (p.Leu988Ser) c.2390T>C (p.Leu797Ser) c.2315T>C (p.Leu772Ser) c.992T>C (p.Leu331Ser) | |
3 | g.38894780A>T | CA352174811 | SCN11A | c.2588T>A (p.Leu863Ter) c.2408T>A (p.Leu803Ter) c.2632T>A (n.2632T>A) c.2207T>A (p.Leu736Ter) c.1925T>A (p.Leu642Ter) c.1136T>A (p.Leu379Ter) c.2963T>A (p.Leu988Ter) c.2390T>A (p.Leu797Ter) c.2315T>A (p.Leu772Ter) c.992T>A (p.Leu331Ter) | |
3 | g.38894781A>C | CA352174814 | SCN11A | c.2587T>G (p.Leu863Val) c.2407T>G (p.Leu803Val) c.2631T>G (n.2631T>G) c.2206T>G (p.Leu736Val) c.1924T>G (p.Leu642Val) c.1135T>G (p.Leu379Val) c.2962T>G (p.Leu988Val) c.2389T>G (p.Leu797Val) c.2314T>G (p.Leu772Val) c.991T>G (p.Leu331Val) | |
3 | g.38894781A>G | CA433336119 | SCN11A | c.2587T>C (p.Leu863=) c.2407T>C (p.Leu803=) c.2631T>C (n.2631T>C) c.2206T>C (p.Leu736=) c.1924T>C (p.Leu642=) c.1135T>C (p.Leu379=) c.2962T>C (p.Leu988=) c.2389T>C (p.Leu797=) c.2314T>C (p.Leu772=) c.991T>C (p.Leu331=) | gnomAD v4 |
3 | g.38894781A>T | CA352174815 | SCN11A | c.2587T>A (p.Leu863Ile) c.2407T>A (p.Leu803Ile) c.2631T>A (n.2631T>A) c.2206T>A (p.Leu736Ile) c.1924T>A (p.Leu642Ile) c.1135T>A (p.Leu379Ile) c.2962T>A (p.Leu988Ile) c.2389T>A (p.Leu797Ile) c.2314T>A (p.Leu772Ile) c.991T>A (p.Leu331Ile) | |
3 | g.38894782G>A | CA433336120 | SCN11A | c.2586C>T (p.Asn862=) c.2406C>T (p.Asn802=) c.2630C>T (n.2630C>T) c.2205C>T (p.Asn735=) c.1923C>T (p.Asn641=) c.1134C>T (p.Asn378=) c.2961C>T (p.Asn987=) c.2388C>T (p.Asn796=) c.2313C>T (p.Asn771=) c.990C>T (p.Asn330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894782G>C | CA352174816 | SCN11A | c.2586C>G (p.Asn862Lys) c.2406C>G (p.Asn802Lys) c.2630C>G (n.2630C>G) c.2205C>G (p.Asn735Lys) c.1923C>G (p.Asn641Lys) c.1134C>G (p.Asn378Lys) c.2961C>G (p.Asn987Lys) c.2388C>G (p.Asn796Lys) c.2313C>G (p.Asn771Lys) c.990C>G (p.Asn330Lys) | |
3 | g.38894782G= | CA1358718217 | SCN11A | c.2586C= (p.Asn862=) c.2406C= (p.Asn802=) c.2630C= (n.2630C=) c.2205C= (p.Asn735=) c.1923C= (p.Asn641=) c.1134C= (p.Asn378=) c.2961C= (p.Asn987=) c.2388C= (p.Asn796=) c.2313C= (p.Asn771=) c.990C= (p.Asn330=) | |
3 | g.38894782G>T | CA352174817 | SCN11A | c.2586C>A (p.Asn862Lys) c.2406C>A (p.Asn802Lys) c.2630C>A (n.2630C>A) c.2205C>A (p.Asn735Lys) c.1923C>A (p.Asn641Lys) c.1134C>A (p.Asn378Lys) c.2961C>A (p.Asn987Lys) c.2388C>A (p.Asn796Lys) c.2313C>A (p.Asn771Lys) c.990C>A (p.Asn330Lys) | |
3 | g.38894783T>A | CA352174818 | SCN11A | c.2585A>T (p.Asn862Ile) c.2405A>T (p.Asn802Ile) c.2629A>T (n.2629A>T) c.2204A>T (p.Asn735Ile) c.1922A>T (p.Asn641Ile) c.1133A>T (p.Asn378Ile) c.2960A>T (p.Asn987Ile) c.2387A>T (p.Asn796Ile) c.2312A>T (p.Asn771Ile) c.989A>T (p.Asn330Ile) | |
3 | g.38894783T>C | CA352174819 | SCN11A | c.2585A>G (p.Asn862Ser) c.2405A>G (p.Asn802Ser) c.2629A>G (n.2629A>G) c.2204A>G (p.Asn735Ser) c.1922A>G (p.Asn641Ser) c.1133A>G (p.Asn378Ser) c.2960A>G (p.Asn987Ser) c.2387A>G (p.Asn796Ser) c.2312A>G (p.Asn771Ser) c.989A>G (p.Asn330Ser) | |
3 | g.38894783T>G | CA352174820 | SCN11A | c.2585A>C (p.Asn862Thr) c.2405A>C (p.Asn802Thr) c.2629A>C (n.2629A>C) c.2204A>C (p.Asn735Thr) c.1922A>C (p.Asn641Thr) c.1133A>C (p.Asn378Thr) c.2960A>C (p.Asn987Thr) c.2387A>C (p.Asn796Thr) c.2312A>C (p.Asn771Thr) c.989A>C (p.Asn330Thr) | |
3 | g.38894784T>A | CA352174821 | SCN11A | c.2584A>T (p.Asn862Tyr) c.2404A>T (p.Asn802Tyr) c.2628A>T (n.2628A>T) c.2203A>T (p.Asn735Tyr) c.1921A>T (p.Asn641Tyr) c.1132A>T (p.Asn378Tyr) c.2959A>T (p.Asn987Tyr) c.2386A>T (p.Asn796Tyr) c.2311A>T (p.Asn771Tyr) c.988A>T (p.Asn330Tyr) | |
3 | g.38894784T>C | CA352174822 | SCN11A | c.2584A>G (p.Asn862Asp) c.2404A>G (p.Asn802Asp) c.2628A>G (n.2628A>G) c.2203A>G (p.Asn735Asp) c.1921A>G (p.Asn641Asp) c.1132A>G (p.Asn378Asp) c.2959A>G (p.Asn987Asp) c.2386A>G (p.Asn796Asp) c.2311A>G (p.Asn771Asp) c.988A>G (p.Asn330Asp) | |
3 | g.38894784T>G | CA352174823 | SCN11A | c.2584A>C (p.Asn862His) c.2404A>C (p.Asn802His) c.2628A>C (n.2628A>C) c.2203A>C (p.Asn735His) c.1921A>C (p.Asn641His) c.1132A>C (p.Asn378His) c.2959A>C (p.Asn987His) c.2386A>C (p.Asn796His) c.2311A>C (p.Asn771His) c.988A>C (p.Asn330His) | |
3 | g.38894785T>A | CA352174824 | SCN11A | c.2583A>T (p.Gln861His) c.2403A>T (p.Gln801His) c.2627A>T (n.2627A>T) c.2202A>T (p.Gln734His) c.1920A>T (p.Gln640His) c.1131A>T (p.Gln377His) c.2958A>T (p.Gln986His) c.2385A>T (p.Gln795His) c.2310A>T (p.Gln770His) c.987A>T (p.Gln329His) | |
3 | g.38894785T>C | CA433336121 | SCN11A | c.2583A>G (p.Gln861=) c.2403A>G (p.Gln801=) c.2627A>G (n.2627A>G) c.2202A>G (p.Gln734=) c.1920A>G (p.Gln640=) c.1131A>G (p.Gln377=) c.2958A>G (p.Gln986=) c.2385A>G (p.Gln795=) c.2310A>G (p.Gln770=) c.987A>G (p.Gln329=) | |
3 | g.38894785T>G | CA352174825 | SCN11A | c.2583A>C (p.Gln861His) c.2403A>C (p.Gln801His) c.2627A>C (n.2627A>C) c.2202A>C (p.Gln734His) c.1920A>C (p.Gln640His) c.1131A>C (p.Gln377His) c.2958A>C (p.Gln986His) c.2385A>C (p.Gln795His) c.2310A>C (p.Gln770His) c.987A>C (p.Gln329His) | |
3 | g.38894786T>A | CA352174827 | SCN11A | c.2582A>T (p.Gln861Leu) c.2402A>T (p.Gln801Leu) c.2626A>T (n.2626A>T) c.2201A>T (p.Gln734Leu) c.1919A>T (p.Gln640Leu) c.1130A>T (p.Gln377Leu) c.2957A>T (p.Gln986Leu) c.2384A>T (p.Gln795Leu) c.2309A>T (p.Gln770Leu) c.986A>T (p.Gln329Leu) | |
3 | g.38894786T>C | CA72997654 | SCN11A | c.2582A>G (p.Gln861Arg) c.2402A>G (p.Gln801Arg) c.2626A>G (n.2626A>G) c.2201A>G (p.Gln734Arg) c.1919A>G (p.Gln640Arg) c.1130A>G (p.Gln377Arg) c.2957A>G (p.Gln986Arg) c.2384A>G (p.Gln795Arg) c.2309A>G (p.Gln770Arg) c.986A>G (p.Gln329Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894786T>G | CA352174826 | SCN11A | c.2582A>C (p.Gln861Pro) c.2402A>C (p.Gln801Pro) c.2626A>C (n.2626A>C) c.2201A>C (p.Gln734Pro) c.1919A>C (p.Gln640Pro) c.1130A>C (p.Gln377Pro) c.2957A>C (p.Gln986Pro) c.2384A>C (p.Gln795Pro) c.2309A>C (p.Gln770Pro) c.986A>C (p.Gln329Pro) | |
3 | g.38894786T= | CA1358718218 | SCN11A | c.2582A= (p.Gln861=) c.2402A= (p.Gln801=) c.2626A= (n.2626A=) c.2201A= (p.Gln734=) c.1919A= (p.Gln640=) c.1130A= (p.Gln377=) c.2957A= (p.Gln986=) c.2384A= (p.Gln795=) c.2309A= (p.Gln770=) c.986A= (p.Gln329=) | |
3 | g.38894787G>A | CA352174828 | SCN11A | c.2581C>T (p.Gln861Ter) c.2401C>T (p.Gln801Ter) c.2625C>T (n.2625C>T) c.2200C>T (p.Gln734Ter) c.1918C>T (p.Gln640Ter) c.1129C>T (p.Gln377Ter) c.2956C>T (p.Gln986Ter) c.2383C>T (p.Gln795Ter) c.2308C>T (p.Gln770Ter) c.985C>T (p.Gln329Ter) | |
3 | g.38894787G>C | CA352174829 | SCN11A | c.2581C>G (p.Gln861Glu) c.2401C>G (p.Gln801Glu) c.2625C>G (n.2625C>G) c.2200C>G (p.Gln734Glu) c.1918C>G (p.Gln640Glu) c.1129C>G (p.Gln377Glu) c.2956C>G (p.Gln986Glu) c.2383C>G (p.Gln795Glu) c.2308C>G (p.Gln770Glu) c.985C>G (p.Gln329Glu) | |
3 | g.38894787G>T | CA352174830 | SCN11A | c.2581C>A (p.Gln861Lys) c.2401C>A (p.Gln801Lys) c.2625C>A (n.2625C>A) c.2200C>A (p.Gln734Lys) c.1918C>A (p.Gln640Lys) c.1129C>A (p.Gln377Lys) c.2956C>A (p.Gln986Lys) c.2383C>A (p.Gln795Lys) c.2308C>A (p.Gln770Lys) c.985C>A (p.Gln329Lys) | COSMIC |
3 | g.38894788C>A | CA352174831 | SCN11A | c.2580G>T (p.Lys860Asn) c.2400G>T (p.Lys800Asn) c.2624G>T (n.2624G>T) c.2199G>T (p.Lys733Asn) c.1917G>T (p.Lys639Asn) c.1128G>T (p.Lys376Asn) c.2955G>T (p.Lys985Asn) c.2382G>T (p.Lys794Asn) c.2307G>T (p.Lys769Asn) c.984G>T (p.Lys328Asn) | dbSNP gnomAD v4 |
3 | g.38894788C= | CA1358718219 | SCN11A | c.2580G= (p.Lys860=) c.2400G= (p.Lys800=) c.2624G= (n.2624G=) c.2199G= (p.Lys733=) c.1917G= (p.Lys639=) c.1128G= (p.Lys376=) c.2955G= (p.Lys985=) c.2382G= (p.Lys794=) c.2307G= (p.Lys769=) c.984G= (p.Lys328=) | |
3 | g.38894788C>G | CA352174832 | SCN11A | c.2580G>C (p.Lys860Asn) c.2400G>C (p.Lys800Asn) c.2624G>C (n.2624G>C) c.2199G>C (p.Lys733Asn) c.1917G>C (p.Lys639Asn) c.1128G>C (p.Lys376Asn) c.2955G>C (p.Lys985Asn) c.2382G>C (p.Lys794Asn) c.2307G>C (p.Lys769Asn) c.984G>C (p.Lys328Asn) | |
3 | g.38894788C>T | CA433336122 | SCN11A | c.2580G>A (p.Lys860=) c.2400G>A (p.Lys800=) c.2624G>A (n.2624G>A) c.2199G>A (p.Lys733=) c.1917G>A (p.Lys639=) c.1128G>A (p.Lys376=) c.2955G>A (p.Lys985=) c.2382G>A (p.Lys794=) c.2307G>A (p.Lys769=) c.984G>A (p.Lys328=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894789T>A | CA352174835 | SCN11A | c.2579A>T (p.Lys860Met) c.2399A>T (p.Lys800Met) c.2623A>T (n.2623A>T) c.2198A>T (p.Lys733Met) c.1916A>T (p.Lys639Met) c.1127A>T (p.Lys376Met) c.2954A>T (p.Lys985Met) c.2381A>T (p.Lys794Met) c.2306A>T (p.Lys769Met) c.983A>T (p.Lys328Met) | |
3 | g.38894789T>C | CA352174833 | SCN11A | c.2579A>G (p.Lys860Arg) c.2399A>G (p.Lys800Arg) c.2623A>G (n.2623A>G) c.2198A>G (p.Lys733Arg) c.1916A>G (p.Lys639Arg) c.1127A>G (p.Lys376Arg) c.2954A>G (p.Lys985Arg) c.2381A>G (p.Lys794Arg) c.2306A>G (p.Lys769Arg) c.983A>G (p.Lys328Arg) | COSMIC |
3 | g.38894789T>G | CA352174834 | SCN11A | c.2579A>C (p.Lys860Thr) c.2399A>C (p.Lys800Thr) c.2623A>C (n.2623A>C) c.2198A>C (p.Lys733Thr) c.1916A>C (p.Lys639Thr) c.1127A>C (p.Lys376Thr) c.2954A>C (p.Lys985Thr) c.2381A>C (p.Lys794Thr) c.2306A>C (p.Lys769Thr) c.983A>C (p.Lys328Thr) | |
3 | g.38894790T>A | CA352174836 | SCN11A | c.2578A>T (p.Lys860Ter) c.2398A>T (p.Lys800Ter) c.2622A>T (n.2622A>T) c.2197A>T (p.Lys733Ter) c.1915A>T (p.Lys639Ter) c.1126A>T (p.Lys376Ter) c.2953A>T (p.Lys985Ter) c.2380A>T (p.Lys794Ter) c.2305A>T (p.Lys769Ter) c.982A>T (p.Lys328Ter) | dbSNP |
3 | g.38894790T>C | CA352174837 | SCN11A | c.2578A>G (p.Lys860Glu) c.2398A>G (p.Lys800Glu) c.2622A>G (n.2622A>G) c.2197A>G (p.Lys733Glu) c.1915A>G (p.Lys639Glu) c.1126A>G (p.Lys376Glu) c.2953A>G (p.Lys985Glu) c.2380A>G (p.Lys794Glu) c.2305A>G (p.Lys769Glu) c.982A>G (p.Lys328Glu) | gnomAD v4 |
3 | g.38894790T>G | CA352174838 | SCN11A | c.2578A>C (p.Lys860Gln) c.2398A>C (p.Lys800Gln) c.2622A>C (n.2622A>C) c.2197A>C (p.Lys733Gln) c.1915A>C (p.Lys639Gln) c.1126A>C (p.Lys376Gln) c.2953A>C (p.Lys985Gln) c.2380A>C (p.Lys794Gln) c.2305A>C (p.Lys769Gln) c.982A>C (p.Lys328Gln) | gnomAD v4 |
3 | g.38894790T= | CA1358718220 | SCN11A | c.2578A= (p.Lys860=) c.2398A= (p.Lys800=) c.2622A= (n.2622A=) c.2197A= (p.Lys733=) c.1915A= (p.Lys639=) c.1126A= (p.Lys376=) c.2953A= (p.Lys985=) c.2380A= (p.Lys794=) c.2305A= (p.Lys769=) c.982A= (p.Lys328=) | |
3 | g.38894791C>A | CA352174839 | SCN11A | c.2577G>T (p.Arg859Ser) c.2397G>T (p.Arg799Ser) c.2621G>T (n.2621G>T) c.2196G>T (p.Arg732Ser) c.1914G>T (p.Arg638Ser) c.1125G>T (p.Arg375Ser) c.2952G>T (p.Arg984Ser) c.2379G>T (p.Arg793Ser) c.2304G>T (p.Arg768Ser) c.981G>T (p.Arg327Ser) | |
3 | g.38894791C>G | CA352174840 | SCN11A | c.2577G>C (p.Arg859Ser) c.2397G>C (p.Arg799Ser) c.2621G>C (n.2621G>C) c.2196G>C (p.Arg732Ser) c.1914G>C (p.Arg638Ser) c.1125G>C (p.Arg375Ser) c.2952G>C (p.Arg984Ser) c.2379G>C (p.Arg793Ser) c.2304G>C (p.Arg768Ser) c.981G>C (p.Arg327Ser) | |
3 | g.38894791C>T | CA433336123 | SCN11A | c.2577G>A (p.Arg859=) c.2397G>A (p.Arg799=) c.2621G>A (n.2621G>A) c.2196G>A (p.Arg732=) c.1914G>A (p.Arg638=) c.1125G>A (p.Arg375=) c.2952G>A (p.Arg984=) c.2379G>A (p.Arg793=) c.2304G>A (p.Arg768=) c.981G>A (p.Arg327=) | |
3 | g.38894792C>A | CA352174841 | SCN11A | c.2576G>T (p.Arg859Met) c.2396G>T (p.Arg799Met) c.2620G>T (n.2620G>T) c.2195G>T (p.Arg732Met) c.1913G>T (p.Arg638Met) c.1124G>T (p.Arg375Met) c.2951G>T (p.Arg984Met) c.2378G>T (p.Arg793Met) c.2303G>T (p.Arg768Met) c.980G>T (p.Arg327Met) | |
3 | g.38894792C= | CA1358718221 | SCN11A | c.2576G= (p.Arg859=) c.2396G= (p.Arg799=) c.2620G= (n.2620G=) c.2195G= (p.Arg732=) c.1913G= (p.Arg638=) c.1124G= (p.Arg375=) c.2951G= (p.Arg984=) c.2378G= (p.Arg793=) c.2303G= (p.Arg768=) c.980G= (p.Arg327=) | |
3 | g.38894792C>G | CA352174842 | SCN11A | c.2576G>C (p.Arg859Thr) c.2396G>C (p.Arg799Thr) c.2620G>C (n.2620G>C) c.2195G>C (p.Arg732Thr) c.1913G>C (p.Arg638Thr) c.1124G>C (p.Arg375Thr) c.2951G>C (p.Arg984Thr) c.2378G>C (p.Arg793Thr) c.2303G>C (p.Arg768Thr) c.980G>C (p.Arg327Thr) | |
3 | g.38894792C>T | CA2322012 | SCN11A | c.2576G>A (p.Arg859Lys) c.2396G>A (p.Arg799Lys) c.2620G>A (n.2620G>A) c.2195G>A (p.Arg732Lys) c.1913G>A (p.Arg638Lys) c.1124G>A (p.Arg375Lys) c.2951G>A (p.Arg984Lys) c.2378G>A (p.Arg793Lys) c.2303G>A (p.Arg768Lys) c.980G>A (p.Arg327Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894793T>A | CA352174843 | SCN11A | c.2575A>T (p.Arg859Trp) c.2395A>T (p.Arg799Trp) c.2619A>T (n.2619A>T) c.2194A>T (p.Arg732Trp) c.1912A>T (p.Arg638Trp) c.1123A>T (p.Arg375Trp) c.2950A>T (p.Arg984Trp) c.2377A>T (p.Arg793Trp) c.2302A>T (p.Arg768Trp) c.979A>T (p.Arg327Trp) | |
3 | g.38894793T>C | CA352174844 | SCN11A | c.2575A>G (p.Arg859Gly) c.2395A>G (p.Arg799Gly) c.2619A>G (n.2619A>G) c.2194A>G (p.Arg732Gly) c.1912A>G (p.Arg638Gly) c.1123A>G (p.Arg375Gly) c.2950A>G (p.Arg984Gly) c.2377A>G (p.Arg793Gly) c.2302A>G (p.Arg768Gly) c.979A>G (p.Arg327Gly) | |
3 | g.38894793T>G | CA2322013 | SCN11A | c.2575A>C (p.Arg859=) c.2395A>C (p.Arg799=) c.2619A>C (n.2619A>C) c.2194A>C (p.Arg732=) c.1912A>C (p.Arg638=) c.1123A>C (p.Arg375=) c.2950A>C (p.Arg984=) c.2377A>C (p.Arg793=) c.2302A>C (p.Arg768=) c.979A>C (p.Arg327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894793T= | CA1358718222 | SCN11A | c.2575A= (p.Arg859=) c.2395A= (p.Arg799=) c.2619A= (n.2619A=) c.2194A= (p.Arg732=) c.1912A= (p.Arg638=) c.1123A= (p.Arg375=) c.2950A= (p.Arg984=) c.2377A= (p.Arg793=) c.2302A= (p.Arg768=) c.979A= (p.Arg327=) | |
3 | g.38894794G>A | CA433336124 | SCN11A | c.2574C>T (p.Cys858=) c.2394C>T (p.Cys798=) c.2618C>T (n.2618C>T) c.2193C>T (p.Cys731=) c.1911C>T (p.Cys637=) c.1122C>T (p.Cys374=) c.2949C>T (p.Cys983=) c.2376C>T (p.Cys792=) c.2301C>T (p.Cys767=) c.978C>T (p.Cys326=) | |
3 | g.38894794G>C | CA352174845 | SCN11A | c.2574C>G (p.Cys858Trp) c.2394C>G (p.Cys798Trp) c.2618C>G (n.2618C>G) c.2193C>G (p.Cys731Trp) c.1911C>G (p.Cys637Trp) c.1122C>G (p.Cys374Trp) c.2949C>G (p.Cys983Trp) c.2376C>G (p.Cys792Trp) c.2301C>G (p.Cys767Trp) c.978C>G (p.Cys326Trp) | |
3 | g.38894794G= | CA1358718223 | SCN11A | c.2574C= (p.Cys858=) c.2394C= (p.Cys798=) c.2618C= (n.2618C=) c.2193C= (p.Cys731=) c.1911C= (p.Cys637=) c.1122C= (p.Cys374=) c.2949C= (p.Cys983=) c.2376C= (p.Cys792=) c.2301C= (p.Cys767=) c.978C= (p.Cys326=) | |
3 | g.38894794G>T | CA352174846 | SCN11A | c.2574C>A (p.Cys858Ter) c.2394C>A (p.Cys798Ter) c.2618C>A (n.2618C>A) c.2193C>A (p.Cys731Ter) c.1911C>A (p.Cys637Ter) c.1122C>A (p.Cys374Ter) c.2949C>A (p.Cys983Ter) c.2376C>A (p.Cys792Ter) c.2301C>A (p.Cys767Ter) c.978C>A (p.Cys326Ter) | dbSNP gnomAD v4 |
3 | g.38894795C>A | CA352174848 | SCN11A | c.2573G>T (p.Cys858Phe) c.2393G>T (p.Cys798Phe) c.2617G>T (n.2617G>T) c.2192G>T (p.Cys731Phe) c.1910G>T (p.Cys637Phe) c.1121G>T (p.Cys374Phe) c.2948G>T (p.Cys983Phe) c.2375G>T (p.Cys792Phe) c.2300G>T (p.Cys767Phe) c.977G>T (p.Cys326Phe) | dbSNP gnomAD v4 |
3 | g.38894795C= | CA1358718224 | SCN11A | c.2573G= (p.Cys858=) c.2393G= (p.Cys798=) c.2617G= (n.2617G=) c.2192G= (p.Cys731=) c.1910G= (p.Cys637=) c.1121G= (p.Cys374=) c.2948G= (p.Cys983=) c.2375G= (p.Cys792=) c.2300G= (p.Cys767=) c.977G= (p.Cys326=) | |
3 | g.38894795C>G | CA352174847 | SCN11A | c.2573G>C (p.Cys858Ser) c.2393G>C (p.Cys798Ser) c.2617G>C (n.2617G>C) c.2192G>C (p.Cys731Ser) c.1910G>C (p.Cys637Ser) c.1121G>C (p.Cys374Ser) c.2948G>C (p.Cys983Ser) c.2375G>C (p.Cys792Ser) c.2300G>C (p.Cys767Ser) c.977G>C (p.Cys326Ser) | |
3 | g.38894795C>T | CA72997666 | SCN11A | c.2573G>A (p.Cys858Tyr) c.2393G>A (p.Cys798Tyr) c.2617G>A (n.2617G>A) c.2192G>A (p.Cys731Tyr) c.1910G>A (p.Cys637Tyr) c.1121G>A (p.Cys374Tyr) c.2948G>A (p.Cys983Tyr) c.2375G>A (p.Cys792Tyr) c.2300G>A (p.Cys767Tyr) c.977G>A (p.Cys326Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894796A= | CA1358718225 | SCN11A | c.2572T= (p.Cys858=) c.2392T= (p.Cys798=) c.2616T= (n.2616T=) c.2191T= (p.Cys731=) c.1909T= (p.Cys637=) c.1120T= (p.Cys374=) c.2947T= (p.Cys983=) c.2374T= (p.Cys792=) c.2299T= (p.Cys767=) c.976T= (p.Cys326=) | |
3 | g.38894796A>C | CA352174849 | SCN11A | c.2572T>G (p.Cys858Gly) c.2392T>G (p.Cys798Gly) c.2616T>G (n.2616T>G) c.2191T>G (p.Cys731Gly) c.1909T>G (p.Cys637Gly) c.1120T>G (p.Cys374Gly) c.2947T>G (p.Cys983Gly) c.2374T>G (p.Cys792Gly) c.2299T>G (p.Cys767Gly) c.976T>G (p.Cys326Gly) | |
3 | g.38894796A>G | CA352174850 | SCN11A | c.2572T>C (p.Cys858Arg) c.2392T>C (p.Cys798Arg) c.2616T>C (n.2616T>C) c.2191T>C (p.Cys731Arg) c.1909T>C (p.Cys637Arg) c.1120T>C (p.Cys374Arg) c.2947T>C (p.Cys983Arg) c.2374T>C (p.Cys792Arg) c.2299T>C (p.Cys767Arg) c.976T>C (p.Cys326Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894796A>T | CA352174851 | SCN11A | c.2572T>A (p.Cys858Ser) c.2392T>A (p.Cys798Ser) c.2616T>A (n.2616T>A) c.2191T>A (p.Cys731Ser) c.1909T>A (p.Cys637Ser) c.1120T>A (p.Cys374Ser) c.2947T>A (p.Cys983Ser) c.2374T>A (p.Cys792Ser) c.2299T>A (p.Cys767Ser) c.976T>A (p.Cys326Ser) | |
3 | g.38894797C>A | CA352174852 | SCN11A | c.2571G>T (p.Trp857Cys) c.2391G>T (p.Trp797Cys) c.2615G>T (n.2615G>T) c.2190G>T (p.Trp730Cys) c.1908G>T (p.Trp636Cys) c.1119G>T (p.Trp373Cys) c.2946G>T (p.Trp982Cys) c.2373G>T (p.Trp791Cys) c.2298G>T (p.Trp766Cys) c.975G>T (p.Trp325Cys) | |
3 | g.38894797C= | CA1358718226 | SCN11A | c.2571G= (p.Trp857=) c.2391G= (p.Trp797=) c.2615G= (n.2615G=) c.2190G= (p.Trp730=) c.1908G= (p.Trp636=) c.1119G= (p.Trp373=) c.2946G= (p.Trp982=) c.2373G= (p.Trp791=) c.2298G= (p.Trp766=) c.975G= (p.Trp325=) | |
3 | g.38894797C>G | CA352174853 | SCN11A | c.2571G>C (p.Trp857Cys) c.2391G>C (p.Trp797Cys) c.2615G>C (n.2615G>C) c.2190G>C (p.Trp730Cys) c.1908G>C (p.Trp636Cys) c.1119G>C (p.Trp373Cys) c.2946G>C (p.Trp982Cys) c.2373G>C (p.Trp791Cys) c.2298G>C (p.Trp766Cys) c.975G>C (p.Trp325Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894797C>T | CA352174854 | SCN11A | c.2571G>A (p.Trp857Ter) c.2391G>A (p.Trp797Ter) c.2615G>A (n.2615G>A) c.2190G>A (p.Trp730Ter) c.1908G>A (p.Trp636Ter) c.1119G>A (p.Trp373Ter) c.2946G>A (p.Trp982Ter) c.2373G>A (p.Trp791Ter) c.2298G>A (p.Trp766Ter) c.975G>A (p.Trp325Ter) | dbSNP |
3 | g.38894798C>A | CA352174857 | SCN11A | c.2570G>T (p.Trp857Leu) c.2390G>T (p.Trp797Leu) c.2614G>T (n.2614G>T) c.2189G>T (p.Trp730Leu) c.1907G>T (p.Trp636Leu) c.1118G>T (p.Trp373Leu) c.2945G>T (p.Trp982Leu) c.2372G>T (p.Trp791Leu) c.2297G>T (p.Trp766Leu) c.974G>T (p.Trp325Leu) | |
3 | g.38894798C>G | CA352174855 | SCN11A | c.2570G>C (p.Trp857Ser) c.2390G>C (p.Trp797Ser) c.2614G>C (n.2614G>C) c.2189G>C (p.Trp730Ser) c.1907G>C (p.Trp636Ser) c.1118G>C (p.Trp373Ser) c.2945G>C (p.Trp982Ser) c.2372G>C (p.Trp791Ser) c.2297G>C (p.Trp766Ser) c.974G>C (p.Trp325Ser) | |
3 | g.38894798C>T | CA352174856 | SCN11A | c.2570G>A (p.Trp857Ter) c.2390G>A (p.Trp797Ter) c.2614G>A (n.2614G>A) c.2189G>A (p.Trp730Ter) c.1907G>A (p.Trp636Ter) c.1118G>A (p.Trp373Ter) c.2945G>A (p.Trp982Ter) c.2372G>A (p.Trp791Ter) c.2297G>A (p.Trp766Ter) c.974G>A (p.Trp325Ter) | gnomAD v4 |
3 | g.38894799A>C | CA352174858 | SCN11A | c.2569T>G (p.Trp857Gly) c.2389T>G (p.Trp797Gly) c.2613T>G (n.2613T>G) c.2188T>G (p.Trp730Gly) c.1906T>G (p.Trp636Gly) c.1117T>G (p.Trp373Gly) c.2944T>G (p.Trp982Gly) c.2371T>G (p.Trp791Gly) c.2296T>G (p.Trp766Gly) c.973T>G (p.Trp325Gly) | |
3 | g.38894799A>G | CA352174859 | SCN11A | c.2569T>C (p.Trp857Arg) c.2389T>C (p.Trp797Arg) c.2613T>C (n.2613T>C) c.2188T>C (p.Trp730Arg) c.1906T>C (p.Trp636Arg) c.1117T>C (p.Trp373Arg) c.2944T>C (p.Trp982Arg) c.2371T>C (p.Trp791Arg) c.2296T>C (p.Trp766Arg) c.973T>C (p.Trp325Arg) | |
3 | g.38894799A>T | CA352174860 | SCN11A | c.2569T>A (p.Trp857Arg) c.2389T>A (p.Trp797Arg) c.2613T>A (n.2613T>A) c.2188T>A (p.Trp730Arg) c.1906T>A (p.Trp636Arg) c.1117T>A (p.Trp373Arg) c.2944T>A (p.Trp982Arg) c.2371T>A (p.Trp791Arg) c.2296T>A (p.Trp766Arg) c.973T>A (p.Trp325Arg) | |
3 | g.38894800C>A | CA352174861 | SCN11A | c.2568G>T (p.Lys856Asn) c.2388G>T (p.Lys796Asn) c.2612G>T (n.2612G>T) c.2187G>T (p.Lys729Asn) c.1905G>T (p.Lys635Asn) c.1116G>T (p.Lys372Asn) c.2943G>T (p.Lys981Asn) c.2370G>T (p.Lys790Asn) c.2295G>T (p.Lys765Asn) c.972G>T (p.Lys324Asn) | |
3 | g.38894800C= | CA1358718227 | SCN11A | c.2568G= (p.Lys856=) c.2388G= (p.Lys796=) c.2612G= (n.2612G=) c.2187G= (p.Lys729=) c.1905G= (p.Lys635=) c.1116G= (p.Lys372=) c.2943G= (p.Lys981=) c.2370G= (p.Lys790=) c.2295G= (p.Lys765=) c.972G= (p.Lys324=) | |
3 | g.38894800C>G | CA352174862 | SCN11A | c.2568G>C (p.Lys856Asn) c.2388G>C (p.Lys796Asn) c.2612G>C (n.2612G>C) c.2187G>C (p.Lys729Asn) c.1905G>C (p.Lys635Asn) c.1116G>C (p.Lys372Asn) c.2943G>C (p.Lys981Asn) c.2370G>C (p.Lys790Asn) c.2295G>C (p.Lys765Asn) c.972G>C (p.Lys324Asn) | |
3 | g.38894800C>T | CA433336125 | SCN11A | c.2568G>A (p.Lys856=) c.2388G>A (p.Lys796=) c.2612G>A (n.2612G>A) c.2187G>A (p.Lys729=) c.1905G>A (p.Lys635=) c.1116G>A (p.Lys372=) c.2943G>A (p.Lys981=) c.2370G>A (p.Lys790=) c.2295G>A (p.Lys765=) c.972G>A (p.Lys324=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894801T>A | CA352174863 | SCN11A | c.2567A>T (p.Lys856Met) c.2387A>T (p.Lys796Met) c.2611A>T (n.2611A>T) c.2186A>T (p.Lys729Met) c.1904A>T (p.Lys635Met) c.1115A>T (p.Lys372Met) c.2942A>T (p.Lys981Met) c.2369A>T (p.Lys790Met) c.2294A>T (p.Lys765Met) c.971A>T (p.Lys324Met) | |
3 | g.38894801T>C | CA352174864 | SCN11A | c.2567A>G (p.Lys856Arg) c.2387A>G (p.Lys796Arg) c.2611A>G (n.2611A>G) c.2186A>G (p.Lys729Arg) c.1904A>G (p.Lys635Arg) c.1115A>G (p.Lys372Arg) c.2942A>G (p.Lys981Arg) c.2369A>G (p.Lys790Arg) c.2294A>G (p.Lys765Arg) c.971A>G (p.Lys324Arg) | |
3 | g.38894801T>G | CA352174865 | SCN11A | c.2567A>C (p.Lys856Thr) c.2387A>C (p.Lys796Thr) c.2611A>C (n.2611A>C) c.2186A>C (p.Lys729Thr) c.1904A>C (p.Lys635Thr) c.1115A>C (p.Lys372Thr) c.2942A>C (p.Lys981Thr) c.2369A>C (p.Lys790Thr) c.2294A>C (p.Lys765Thr) c.971A>C (p.Lys324Thr) | |
3 | g.38894802T>A | CA352174866 | SCN11A | c.2566A>T (p.Lys856Ter) c.2386A>T (p.Lys796Ter) c.2610A>T (n.2610A>T) c.2185A>T (p.Lys729Ter) c.1903A>T (p.Lys635Ter) c.1114A>T (p.Lys372Ter) c.2941A>T (p.Lys981Ter) c.2368A>T (p.Lys790Ter) c.2293A>T (p.Lys765Ter) c.970A>T (p.Lys324Ter) | dbSNP |
3 | g.38894802T>C | CA352174867 | SCN11A | c.2566A>G (p.Lys856Glu) c.2386A>G (p.Lys796Glu) c.2610A>G (n.2610A>G) c.2185A>G (p.Lys729Glu) c.1903A>G (p.Lys635Glu) c.1114A>G (p.Lys372Glu) c.2941A>G (p.Lys981Glu) c.2368A>G (p.Lys790Glu) c.2293A>G (p.Lys765Glu) c.970A>G (p.Lys324Glu) | |
3 | g.38894802T>G | CA352174868 | SCN11A | c.2566A>C (p.Lys856Gln) c.2386A>C (p.Lys796Gln) c.2610A>C (n.2610A>C) c.2185A>C (p.Lys729Gln) c.1903A>C (p.Lys635Gln) c.1114A>C (p.Lys372Gln) c.2941A>C (p.Lys981Gln) c.2368A>C (p.Lys790Gln) c.2293A>C (p.Lys765Gln) c.970A>C (p.Lys324Gln) | |
3 | g.38894802T= | CA1358718228 | SCN11A | c.2566A= (p.Lys856=) c.2386A= (p.Lys796=) c.2610A= (n.2610A=) c.2185A= (p.Lys729=) c.1903A= (p.Lys635=) c.1114A= (p.Lys372=) c.2941A= (p.Lys981=) c.2368A= (p.Lys790=) c.2293A= (p.Lys765=) c.970A= (p.Lys324=) | |
3 | g.38894803G>A | CA433336126 | SCN11A | c.2565C>T (p.His855=) c.2385C>T (p.His795=) c.2609C>T (n.2609C>T) c.2184C>T (p.His728=) c.1902C>T (p.His634=) c.1113C>T (p.His371=) c.2940C>T (p.His980=) c.2367C>T (p.His789=) c.2292C>T (p.His764=) c.969C>T (p.His323=) | |
3 | g.38894803G>C | CA352174869 | SCN11A | c.2565C>G (p.His855Gln) c.2385C>G (p.His795Gln) c.2609C>G (n.2609C>G) c.2184C>G (p.His728Gln) c.1902C>G (p.His634Gln) c.1113C>G (p.His371Gln) c.2940C>G (p.His980Gln) c.2367C>G (p.His789Gln) c.2292C>G (p.His764Gln) c.969C>G (p.His323Gln) | |
3 | g.38894803G>T | CA352174870 | SCN11A | c.2565C>A (p.His855Gln) c.2385C>A (p.His795Gln) c.2609C>A (n.2609C>A) c.2184C>A (p.His728Gln) c.1902C>A (p.His634Gln) c.1113C>A (p.His371Gln) c.2940C>A (p.His980Gln) c.2367C>A (p.His789Gln) c.2292C>A (p.His764Gln) c.969C>A (p.His323Gln) | |
3 | g.38894804T>A | CA352174871 | SCN11A | c.2564A>T (p.His855Leu) c.2384A>T (p.His795Leu) c.2608A>T (n.2608A>T) c.2183A>T (p.His728Leu) c.1901A>T (p.His634Leu) c.1112A>T (p.His371Leu) c.2939A>T (p.His980Leu) c.2366A>T (p.His789Leu) c.2291A>T (p.His764Leu) c.968A>T (p.His323Leu) | |
3 | g.38894804T>C | CA352174873 | SCN11A | c.2564A>G (p.His855Arg) c.2384A>G (p.His795Arg) c.2608A>G (n.2608A>G) c.2183A>G (p.His728Arg) c.1901A>G (p.His634Arg) c.1112A>G (p.His371Arg) c.2939A>G (p.His980Arg) c.2366A>G (p.His789Arg) c.2291A>G (p.His764Arg) c.968A>G (p.His323Arg) | |
3 | g.38894804T>G | CA352174872 | SCN11A | c.2564A>C (p.His855Pro) c.2384A>C (p.His795Pro) c.2608A>C (n.2608A>C) c.2183A>C (p.His728Pro) c.1901A>C (p.His634Pro) c.1112A>C (p.His371Pro) c.2939A>C (p.His980Pro) c.2366A>C (p.His789Pro) c.2291A>C (p.His764Pro) c.968A>C (p.His323Pro) | |
3 | g.38894805G>A | CA352174874 | SCN11A | c.2563C>T (p.His855Tyr) c.2383C>T (p.His795Tyr) c.2607C>T (n.2607C>T) c.2182C>T (p.His728Tyr) c.1900C>T (p.His634Tyr) c.1111C>T (p.His371Tyr) c.2938C>T (p.His980Tyr) c.2365C>T (p.His789Tyr) c.2290C>T (p.His764Tyr) c.967C>T (p.His323Tyr) | |
3 | g.38894805G>C | CA352174875 | SCN11A | c.2563C>G (p.His855Asp) c.2383C>G (p.His795Asp) c.2607C>G (n.2607C>G) c.2182C>G (p.His728Asp) c.1900C>G (p.His634Asp) c.1111C>G (p.His371Asp) c.2938C>G (p.His980Asp) c.2365C>G (p.His789Asp) c.2290C>G (p.His764Asp) c.967C>G (p.His323Asp) | |
3 | g.38894805G>T | CA352174876 | SCN11A | c.2563C>A (p.His855Asn) c.2383C>A (p.His795Asn) c.2607C>A (n.2607C>A) c.2182C>A (p.His728Asn) c.1900C>A (p.His634Asn) c.1111C>A (p.His371Asn) c.2938C>A (p.His980Asn) c.2365C>A (p.His789Asn) c.2290C>A (p.His764Asn) c.967C>A (p.His323Asn) | |
3 | g.38894806A= | CA1358718229 | SCN11A | c.2562T= (p.Cys854=) c.2382T= (p.Cys794=) c.2606T= (n.2606T=) c.2181T= (p.Cys727=) c.1899T= (p.Cys633=) c.1110T= (p.Cys370=) c.2937T= (p.Cys979=) c.2364T= (p.Cys788=) c.2289T= (p.Cys763=) c.966T= (p.Cys322=) | |
3 | g.38894806A>C | CA352174877 | SCN11A | c.2562T>G (p.Cys854Trp) c.2382T>G (p.Cys794Trp) c.2606T>G (n.2606T>G) c.2181T>G (p.Cys727Trp) c.1899T>G (p.Cys633Trp) c.1110T>G (p.Cys370Trp) c.2937T>G (p.Cys979Trp) c.2364T>G (p.Cys788Trp) c.2289T>G (p.Cys763Trp) c.966T>G (p.Cys322Trp) | |
3 | g.38894806A>G | CA433336127 | SCN11A | c.2562T>C (p.Cys854=) c.2382T>C (p.Cys794=) c.2606T>C (n.2606T>C) c.2181T>C (p.Cys727=) c.1899T>C (p.Cys633=) c.1110T>C (p.Cys370=) c.2937T>C (p.Cys979=) c.2364T>C (p.Cys788=) c.2289T>C (p.Cys763=) c.966T>C (p.Cys322=) | |
3 | g.38894806A>T | CA352174878 | SCN11A | c.2562T>A (p.Cys854Ter) c.2382T>A (p.Cys794Ter) c.2606T>A (n.2606T>A) c.2181T>A (p.Cys727Ter) c.1899T>A (p.Cys633Ter) c.1110T>A (p.Cys370Ter) c.2937T>A (p.Cys979Ter) c.2364T>A (p.Cys788Ter) c.2289T>A (p.Cys763Ter) c.966T>A (p.Cys322Ter) | dbSNP |
3 | g.38894807C>A | CA352174879 | SCN11A | c.2561G>T (p.Cys854Phe) c.2381G>T (p.Cys794Phe) c.2605G>T (n.2605G>T) c.2180G>T (p.Cys727Phe) c.1898G>T (p.Cys633Phe) c.1109G>T (p.Cys370Phe) c.2936G>T (p.Cys979Phe) c.2363G>T (p.Cys788Phe) c.2288G>T (p.Cys763Phe) c.965G>T (p.Cys322Phe) | |
3 | g.38894807C>G | CA352174880 | SCN11A | c.2561G>C (p.Cys854Ser) c.2381G>C (p.Cys794Ser) c.2605G>C (n.2605G>C) c.2180G>C (p.Cys727Ser) c.1898G>C (p.Cys633Ser) c.1109G>C (p.Cys370Ser) c.2936G>C (p.Cys979Ser) c.2363G>C (p.Cys788Ser) c.2288G>C (p.Cys763Ser) c.965G>C (p.Cys322Ser) | |
3 | g.38894807C>T | CA352174881 | SCN11A | c.2561G>A (p.Cys854Tyr) c.2381G>A (p.Cys794Tyr) c.2605G>A (n.2605G>A) c.2180G>A (p.Cys727Tyr) c.1898G>A (p.Cys633Tyr) c.1109G>A (p.Cys370Tyr) c.2936G>A (p.Cys979Tyr) c.2363G>A (p.Cys788Tyr) c.2288G>A (p.Cys763Tyr) c.965G>A (p.Cys322Tyr) | |
3 | g.38894808A>C | CA352174882 | SCN11A | c.2560T>G (p.Cys854Gly) c.2380T>G (p.Cys794Gly) c.2604T>G (n.2604T>G) c.2179T>G (p.Cys727Gly) c.1897T>G (p.Cys633Gly) c.1108T>G (p.Cys370Gly) c.2935T>G (p.Cys979Gly) c.2362T>G (p.Cys788Gly) c.2287T>G (p.Cys763Gly) c.964T>G (p.Cys322Gly) | |
3 | g.38894808A>G | CA352174883 | SCN11A | c.2560T>C (p.Cys854Arg) c.2380T>C (p.Cys794Arg) c.2604T>C (n.2604T>C) c.2179T>C (p.Cys727Arg) c.1897T>C (p.Cys633Arg) c.1108T>C (p.Cys370Arg) c.2935T>C (p.Cys979Arg) c.2362T>C (p.Cys788Arg) c.2287T>C (p.Cys763Arg) c.964T>C (p.Cys322Arg) | |
3 | g.38894808A>T | CA352174884 | SCN11A | c.2560T>A (p.Cys854Ser) c.2380T>A (p.Cys794Ser) c.2604T>A (n.2604T>A) c.2179T>A (p.Cys727Ser) c.1897T>A (p.Cys633Ser) c.1108T>A (p.Cys370Ser) c.2935T>A (p.Cys979Ser) c.2362T>A (p.Cys788Ser) c.2287T>A (p.Cys763Ser) c.964T>A (p.Cys322Ser) | |
3 | g.38894809G>A | CA433336128 | SCN11A | c.2559C>T (p.Phe853=) c.2379C>T (p.Phe793=) c.2603C>T (n.2603C>T) c.2178C>T (p.Phe726=) c.1896C>T (p.Phe632=) c.1107C>T (p.Phe369=) c.2934C>T (p.Phe978=) c.2361C>T (p.Phe787=) c.2286C>T (p.Phe762=) c.963C>T (p.Phe321=) | gnomAD v4 |
3 | g.38894809G>C | CA352174885 | SCN11A | c.2559C>G (p.Phe853Leu) c.2379C>G (p.Phe793Leu) c.2603C>G (n.2603C>G) c.2178C>G (p.Phe726Leu) c.1896C>G (p.Phe632Leu) c.1107C>G (p.Phe369Leu) c.2934C>G (p.Phe978Leu) c.2361C>G (p.Phe787Leu) c.2286C>G (p.Phe762Leu) c.963C>G (p.Phe321Leu) | |
3 | g.38894809G>T | CA352174886 | SCN11A | c.2559C>A (p.Phe853Leu) c.2379C>A (p.Phe793Leu) c.2603C>A (n.2603C>A) c.2178C>A (p.Phe726Leu) c.1896C>A (p.Phe632Leu) c.1107C>A (p.Phe369Leu) c.2934C>A (p.Phe978Leu) c.2361C>A (p.Phe787Leu) c.2286C>A (p.Phe762Leu) c.963C>A (p.Phe321Leu) | |
3 | g.38894810A= | CA1358718230 | SCN11A | c.2558T= (p.Phe853=) c.2378T= (p.Phe793=) c.2602T= (n.2602T=) c.2177T= (p.Phe726=) c.1895T= (p.Phe632=) c.1106T= (p.Phe369=) c.2933T= (p.Phe978=) c.2360T= (p.Phe787=) c.2285T= (p.Phe762=) c.962T= (p.Phe321=) | |
3 | g.38894810A>C | CA352174887 | SCN11A | c.2558T>G (p.Phe853Cys) c.2378T>G (p.Phe793Cys) c.2602T>G (n.2602T>G) c.2177T>G (p.Phe726Cys) c.1895T>G (p.Phe632Cys) c.1106T>G (p.Phe369Cys) c.2933T>G (p.Phe978Cys) c.2360T>G (p.Phe787Cys) c.2285T>G (p.Phe762Cys) c.962T>G (p.Phe321Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894810A>G | CA352174889 | SCN11A | c.2558T>C (p.Phe853Ser) c.2378T>C (p.Phe793Ser) c.2602T>C (n.2602T>C) c.2177T>C (p.Phe726Ser) c.1895T>C (p.Phe632Ser) c.1106T>C (p.Phe369Ser) c.2933T>C (p.Phe978Ser) c.2360T>C (p.Phe787Ser) c.2285T>C (p.Phe762Ser) c.962T>C (p.Phe321Ser) | |
3 | g.38894810A>T | CA352174888 | SCN11A | c.2558T>A (p.Phe853Tyr) c.2378T>A (p.Phe793Tyr) c.2602T>A (n.2602T>A) c.2177T>A (p.Phe726Tyr) c.1895T>A (p.Phe632Tyr) c.1106T>A (p.Phe369Tyr) c.2933T>A (p.Phe978Tyr) c.2360T>A (p.Phe787Tyr) c.2285T>A (p.Phe762Tyr) c.962T>A (p.Phe321Tyr) | |
3 | g.38894811A= | CA1358718231 | SCN11A | c.2557T= (p.Phe853=) c.2377T= (p.Phe793=) c.2601T= (n.2601T=) c.2176T= (p.Phe726=) c.1894T= (p.Phe632=) c.1105T= (p.Phe369=) c.2932T= (p.Phe978=) c.2359T= (p.Phe787=) c.2284T= (p.Phe762=) c.961T= (p.Phe321=) | |
3 | g.38894811A>C | CA352174890 | SCN11A | c.2557T>G (p.Phe853Val) c.2377T>G (p.Phe793Val) c.2601T>G (n.2601T>G) c.2176T>G (p.Phe726Val) c.1894T>G (p.Phe632Val) c.1105T>G (p.Phe369Val) c.2932T>G (p.Phe978Val) c.2359T>G (p.Phe787Val) c.2284T>G (p.Phe762Val) c.961T>G (p.Phe321Val) | |
3 | g.38894811A>G | CA352174891 | SCN11A | c.2557T>C (p.Phe853Leu) c.2377T>C (p.Phe793Leu) c.2601T>C (n.2601T>C) c.2176T>C (p.Phe726Leu) c.1894T>C (p.Phe632Leu) c.1105T>C (p.Phe369Leu) c.2932T>C (p.Phe978Leu) c.2359T>C (p.Phe787Leu) c.2284T>C (p.Phe762Leu) c.961T>C (p.Phe321Leu) | dbSNP |
3 | g.38894811A>T | CA352174892 | SCN11A | c.2557T>A (p.Phe853Ile) c.2377T>A (p.Phe793Ile) c.2601T>A (n.2601T>A) c.2176T>A (p.Phe726Ile) c.1894T>A (p.Phe632Ile) c.1105T>A (p.Phe369Ile) c.2932T>A (p.Phe978Ile) c.2359T>A (p.Phe787Ile) c.2284T>A (p.Phe762Ile) c.961T>A (p.Phe321Ile) | |
3 | g.38894812A>C | CA352174893 | SCN11A | c.2556T>G (p.His852Gln) c.2376T>G (p.His792Gln) c.2600T>G (n.2600T>G) c.2175T>G (p.His725Gln) c.1893T>G (p.His631Gln) c.1104T>G (p.His368Gln) c.2931T>G (p.His977Gln) c.2358T>G (p.His786Gln) c.2283T>G (p.His761Gln) c.960T>G (p.His320Gln) | |
3 | g.38894812A>G | CA433336129 | SCN11A | c.2556T>C (p.His852=) c.2376T>C (p.His792=) c.2600T>C (n.2600T>C) c.2175T>C (p.His725=) c.1893T>C (p.His631=) c.1104T>C (p.His368=) c.2931T>C (p.His977=) c.2358T>C (p.His786=) c.2283T>C (p.His761=) c.960T>C (p.His320=) | |
3 | g.38894812A>T | CA352174894 | SCN11A | c.2556T>A (p.His852Gln) c.2376T>A (p.His792Gln) c.2600T>A (n.2600T>A) c.2175T>A (p.His725Gln) c.1893T>A (p.His631Gln) c.1104T>A (p.His368Gln) c.2931T>A (p.His977Gln) c.2358T>A (p.His786Gln) c.2283T>A (p.His761Gln) c.960T>A (p.His320Gln) | |
3 | g.38894813T>A | CA352174895 | SCN11A | c.2555A>T (p.His852Leu) c.2375A>T (p.His792Leu) c.2599A>T (n.2599A>T) c.2174A>T (p.His725Leu) c.1892A>T (p.His631Leu) c.1103A>T (p.His368Leu) c.2930A>T (p.His977Leu) c.2357A>T (p.His786Leu) c.2282A>T (p.His761Leu) c.959A>T (p.His320Leu) | |
3 | g.38894813T>C | CA352174896 | SCN11A | c.2555A>G (p.His852Arg) c.2375A>G (p.His792Arg) c.2599A>G (n.2599A>G) c.2174A>G (p.His725Arg) c.1892A>G (p.His631Arg) c.1103A>G (p.His368Arg) c.2930A>G (p.His977Arg) c.2357A>G (p.His786Arg) c.2282A>G (p.His761Arg) c.959A>G (p.His320Arg) | |
3 | g.38894813T>G | CA352174897 | SCN11A | c.2555A>C (p.His852Pro) c.2375A>C (p.His792Pro) c.2599A>C (n.2599A>C) c.2174A>C (p.His725Pro) c.1892A>C (p.His631Pro) c.1103A>C (p.His368Pro) c.2930A>C (p.His977Pro) c.2357A>C (p.His786Pro) c.2282A>C (p.His761Pro) c.959A>C (p.His320Pro) | |
3 | g.38894814G>A | CA352174898 | SCN11A | c.2554C>T (p.His852Tyr) c.2374C>T (p.His792Tyr) c.2598C>T (n.2598C>T) c.2173C>T (p.His725Tyr) c.1891C>T (p.His631Tyr) c.1102C>T (p.His368Tyr) c.2929C>T (p.His977Tyr) c.2356C>T (p.His786Tyr) c.2281C>T (p.His761Tyr) c.958C>T (p.His320Tyr) | gnomAD v4 |
3 | g.38894814G>C | CA352174899 | SCN11A | c.2554C>G (p.His852Asp) c.2374C>G (p.His792Asp) c.2598C>G (n.2598C>G) c.2173C>G (p.His725Asp) c.1891C>G (p.His631Asp) c.1102C>G (p.His368Asp) c.2929C>G (p.His977Asp) c.2356C>G (p.His786Asp) c.2281C>G (p.His761Asp) c.958C>G (p.His320Asp) | |
3 | g.38894814G>T | CA352174900 | SCN11A | c.2554C>A (p.His852Asn) c.2374C>A (p.His792Asn) c.2598C>A (n.2598C>A) c.2173C>A (p.His725Asn) c.1891C>A (p.His631Asn) c.1102C>A (p.His368Asn) c.2929C>A (p.His977Asn) c.2356C>A (p.His786Asn) c.2281C>A (p.His761Asn) c.958C>A (p.His320Asn) | |
3 | g.38894815C>A | CA352174902 | SCN11A | c.2553G>T (p.Glu851Asp) c.2373G>T (p.Glu791Asp) c.2597G>T (n.2597G>T) c.2172G>T (p.Glu724Asp) c.1890G>T (p.Glu630Asp) c.1101G>T (p.Glu367Asp) c.2928G>T (p.Glu976Asp) c.2355G>T (p.Glu785Asp) c.2280G>T (p.Glu760Asp) c.957G>T (p.Glu319Asp) | |
3 | g.38894815C= | CA1358718232 | SCN11A | c.2553G= (p.Glu851=) c.2373G= (p.Glu791=) c.2597G= (n.2597G=) c.2172G= (p.Glu724=) c.1890G= (p.Glu630=) c.1101G= (p.Glu367=) c.2928G= (p.Glu976=) c.2355G= (p.Glu785=) c.2280G= (p.Glu760=) c.957G= (p.Glu319=) | |
3 | g.38894815C>G | CA352174901 | SCN11A | c.2553G>C (p.Glu851Asp) c.2373G>C (p.Glu791Asp) c.2597G>C (n.2597G>C) c.2172G>C (p.Glu724Asp) c.1890G>C (p.Glu630Asp) c.1101G>C (p.Glu367Asp) c.2928G>C (p.Glu976Asp) c.2355G>C (p.Glu785Asp) c.2280G>C (p.Glu760Asp) c.957G>C (p.Glu319Asp) | |
3 | g.38894815C>T | CA433336130 | SCN11A | c.2553G>A (p.Glu851=) c.2373G>A (p.Glu791=) c.2597G>A (n.2597G>A) c.2172G>A (p.Glu724=) c.1890G>A (p.Glu630=) c.1101G>A (p.Glu367=) c.2928G>A (p.Glu976=) c.2355G>A (p.Glu785=) c.2280G>A (p.Glu760=) c.957G>A (p.Glu319=) | dbSNP |
3 | g.38894816T>A | CA352174903 | SCN11A | c.2552A>T (p.Glu851Val) c.2372A>T (p.Glu791Val) c.2596A>T (n.2596A>T) c.2171A>T (p.Glu724Val) c.1889A>T (p.Glu630Val) c.1100A>T (p.Glu367Val) c.2927A>T (p.Glu976Val) c.2354A>T (p.Glu785Val) c.2279A>T (p.Glu760Val) c.956A>T (p.Glu319Val) | |
3 | g.38894816T>C | CA352174905 | SCN11A | c.2552A>G (p.Glu851Gly) c.2372A>G (p.Glu791Gly) c.2596A>G (n.2596A>G) c.2171A>G (p.Glu724Gly) c.1889A>G (p.Glu630Gly) c.1100A>G (p.Glu367Gly) c.2927A>G (p.Glu976Gly) c.2354A>G (p.Glu785Gly) c.2279A>G (p.Glu760Gly) c.956A>G (p.Glu319Gly) | |
3 | g.38894816T>G | CA352174904 | SCN11A | c.2552A>C (p.Glu851Ala) c.2372A>C (p.Glu791Ala) c.2596A>C (n.2596A>C) c.2171A>C (p.Glu724Ala) c.1889A>C (p.Glu630Ala) c.1100A>C (p.Glu367Ala) c.2927A>C (p.Glu976Ala) c.2354A>C (p.Glu785Ala) c.2279A>C (p.Glu760Ala) c.956A>C (p.Glu319Ala) | |
3 | g.38894817C>A | CA352174906 | SCN11A | c.2551G>T (p.Glu851Ter) c.2371G>T (p.Glu791Ter) c.2595G>T (n.2595G>T) c.2170G>T (p.Glu724Ter) c.1888G>T (p.Glu630Ter) c.1099G>T (p.Glu367Ter) c.2926G>T (p.Glu976Ter) c.2353G>T (p.Glu785Ter) c.2278G>T (p.Glu760Ter) c.955G>T (p.Glu319Ter) | dbSNP |
3 | g.38894817C= | CA1358718234 | SCN11A | c.2551G= (p.Glu851=) c.2371G= (p.Glu791=) c.2595G= (n.2595G=) c.2170G= (p.Glu724=) c.1888G= (p.Glu630=) c.1099G= (p.Glu367=) c.2926G= (p.Glu976=) c.2353G= (p.Glu785=) c.2278G= (p.Glu760=) c.955G= (p.Glu319=) | |
3 | g.38894817C>G | CA352174908 | SCN11A | c.2551G>C (p.Glu851Gln) c.2371G>C (p.Glu791Gln) c.2595G>C (n.2595G>C) c.2170G>C (p.Glu724Gln) c.1888G>C (p.Glu630Gln) c.1099G>C (p.Glu367Gln) c.2926G>C (p.Glu976Gln) c.2353G>C (p.Glu785Gln) c.2278G>C (p.Glu760Gln) c.955G>C (p.Glu319Gln) | |
3 | g.38894817C>T | CA352174907 | SCN11A | c.2551G>A (p.Glu851Lys) c.2371G>A (p.Glu791Lys) c.2595G>A (n.2595G>A) c.2170G>A (p.Glu724Lys) c.1888G>A (p.Glu630Lys) c.1099G>A (p.Glu367Lys) c.2926G>A (p.Glu976Lys) c.2353G>A (p.Glu785Lys) c.2278G>A (p.Glu760Lys) c.955G>A (p.Glu319Lys) | COSMIC |
3 | g.38894817_38894819delinsCAA | CA1358718233 | SCN11A | c.2549_2551delinsTTG (p.Leu850=) c.2369_2371delinsTTG (p.Leu790=) c.2593_2595delinsTTG (n.2593_2595delinsTTG) c.2168_2170delinsTTG (p.Leu723=) c.1886_1888delinsTTG (p.Leu629=) c.1097_1099delinsTTG (p.Leu366=) c.2924_2926delinsTTG (p.Leu975=) c.2351_2353delinsTTG (p.Leu784=) c.2276_2278delinsTTG (p.Leu759=) c.953_955delinsTTG (p.Leu318=) | |
3 | g.38894818A= | CA1358718236 | SCN11A | c.2550T= (p.Leu850=) c.2370T= (p.Leu790=) c.2594T= (n.2594T=) c.2169T= (p.Leu723=) c.1887T= (p.Leu629=) c.1098T= (p.Leu366=) c.2925T= (p.Leu975=) c.2352T= (p.Leu784=) c.2277T= (p.Leu759=) c.954T= (p.Leu318=) | |
3 | g.38894818A>C | CA433336133 | SCN11A | c.2550T>G (p.Leu850=) c.2370T>G (p.Leu790=) c.2594T>G (n.2594T>G) c.2169T>G (p.Leu723=) c.1887T>G (p.Leu629=) c.1098T>G (p.Leu366=) c.2925T>G (p.Leu975=) c.2352T>G (p.Leu784=) c.2277T>G (p.Leu759=) c.954T>G (p.Leu318=) | dbSNP |
3 | g.38894818A>G | CA433336135 | SCN11A | c.2550T>C (p.Leu850=) c.2370T>C (p.Leu790=) c.2594T>C (n.2594T>C) c.2169T>C (p.Leu723=) c.1887T>C (p.Leu629=) c.1098T>C (p.Leu366=) c.2925T>C (p.Leu975=) c.2352T>C (p.Leu784=) c.2277T>C (p.Leu759=) c.954T>C (p.Leu318=) | COSMIC |
3 | g.38894818A>T | CA433336134 | SCN11A | c.2550T>A (p.Leu850=) c.2370T>A (p.Leu790=) c.2594T>A (n.2594T>A) c.2169T>A (p.Leu723=) c.1887T>A (p.Leu629=) c.1098T>A (p.Leu366=) c.2925T>A (p.Leu975=) c.2352T>A (p.Leu784=) c.2277T>A (p.Leu759=) c.954T>A (p.Leu318=) | |
3 | g.38894818_38894819del | CA1358718235 | SCN11A | c.2549_2550del (p.Leu850ArgfsTer?) c.2369_2370del (p.Leu790ArgfsTer?) c.2593_2594del (n.2593_2594del) c.2168_2169del (p.Leu723ArgfsTer?) c.1886_1887del (p.Leu629ArgfsTer?) c.1097_1098del (p.Leu366ArgfsTer?) c.2924_2925del (p.Leu975ArgfsTer?) c.2351_2352del (p.Leu784ArgfsTer?) c.2276_2277del (p.Leu759ArgfsTer?) c.953_954del (p.Leu318ArgfsTer?) | dbSNP gnomAD v4 |
3 | g.38894819A= | CA1358718237 | SCN11A | c.2549T= (p.Leu850=) c.2369T= (p.Leu790=) c.2593T= (n.2593T=) c.2168T= (p.Leu723=) c.1886T= (p.Leu629=) c.1097T= (p.Leu366=) c.2924T= (p.Leu975=) c.2351T= (p.Leu784=) c.2276T= (p.Leu759=) c.953T= (p.Leu318=) | |
3 | g.38894819A>C | CA352174909 | SCN11A | c.2549T>G (p.Leu850Arg) c.2369T>G (p.Leu790Arg) c.2593T>G (n.2593T>G) c.2168T>G (p.Leu723Arg) c.1886T>G (p.Leu629Arg) c.1097T>G (p.Leu366Arg) c.2924T>G (p.Leu975Arg) c.2351T>G (p.Leu784Arg) c.2276T>G (p.Leu759Arg) c.953T>G (p.Leu318Arg) | |
3 | g.38894819A>G | CA2322014 | SCN11A | c.2549T>C (p.Leu850Pro) c.2369T>C (p.Leu790Pro) c.2593T>C (n.2593T>C) c.2168T>C (p.Leu723Pro) c.1886T>C (p.Leu629Pro) c.1097T>C (p.Leu366Pro) c.2924T>C (p.Leu975Pro) c.2351T>C (p.Leu784Pro) c.2276T>C (p.Leu759Pro) c.953T>C (p.Leu318Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894819A>T | CA352174910 | SCN11A | c.2549T>A (p.Leu850His) c.2369T>A (p.Leu790His) c.2593T>A (n.2593T>A) c.2168T>A (p.Leu723His) c.1886T>A (p.Leu629His) c.1097T>A (p.Leu366His) c.2924T>A (p.Leu975His) c.2351T>A (p.Leu784His) c.2276T>A (p.Leu759His) c.953T>A (p.Leu318His) | |
3 | g.38894820G>A | CA352174911 | SCN11A | c.2548C>T (p.Leu850Phe) c.2368C>T (p.Leu790Phe) c.2592C>T (n.2592C>T) c.2167C>T (p.Leu723Phe) c.1885C>T (p.Leu629Phe) c.1096C>T (p.Leu366Phe) c.2923C>T (p.Leu975Phe) c.2350C>T (p.Leu784Phe) c.2275C>T (p.Leu759Phe) c.952C>T (p.Leu318Phe) | |
3 | g.38894820G>C | CA352174912 | SCN11A | c.2548C>G (p.Leu850Val) c.2368C>G (p.Leu790Val) c.2592C>G (n.2592C>G) c.2167C>G (p.Leu723Val) c.1885C>G (p.Leu629Val) c.1096C>G (p.Leu366Val) c.2923C>G (p.Leu975Val) c.2350C>G (p.Leu784Val) c.2275C>G (p.Leu759Val) c.952C>G (p.Leu318Val) | |
3 | g.38894820G>T | CA352174913 | SCN11A | c.2548C>A (p.Leu850Ile) c.2368C>A (p.Leu790Ile) c.2592C>A (n.2592C>A) c.2167C>A (p.Leu723Ile) c.1885C>A (p.Leu629Ile) c.1096C>A (p.Leu366Ile) c.2923C>A (p.Leu975Ile) c.2350C>A (p.Leu784Ile) c.2275C>A (p.Leu759Ile) c.952C>A (p.Leu318Ile) | |
3 | g.38894821A>C | CA433336137 | SCN11A | c.2547T>G (p.Thr849=) c.2367T>G (p.Thr789=) c.2591T>G (n.2591T>G) c.2166T>G (p.Thr722=) c.1884T>G (p.Thr628=) c.1095T>G (p.Thr365=) c.2922T>G (p.Thr974=) c.2349T>G (p.Thr783=) c.2274T>G (p.Thr758=) c.951T>G (p.Thr317=) | |
3 | g.38894821A>G | CA433336139 | SCN11A | c.2547T>C (p.Thr849=) c.2367T>C (p.Thr789=) c.2591T>C (n.2591T>C) c.2166T>C (p.Thr722=) c.1884T>C (p.Thr628=) c.1095T>C (p.Thr365=) c.2922T>C (p.Thr974=) c.2349T>C (p.Thr783=) c.2274T>C (p.Thr758=) c.951T>C (p.Thr317=) | |
3 | g.38894821A>T | CA433336141 | SCN11A | c.2547T>A (p.Thr849=) c.2367T>A (p.Thr789=) c.2591T>A (n.2591T>A) c.2166T>A (p.Thr722=) c.1884T>A (p.Thr628=) c.1095T>A (p.Thr365=) c.2922T>A (p.Thr974=) c.2349T>A (p.Thr783=) c.2274T>A (p.Thr758=) c.951T>A (p.Thr317=) | gnomAD v4 |
3 | g.38894822G>A | CA352174914 | SCN11A | c.2546C>T (p.Thr849Ile) c.2366C>T (p.Thr789Ile) c.2590C>T (n.2590C>T) c.2165C>T (p.Thr722Ile) c.1883C>T (p.Thr628Ile) c.1094C>T (p.Thr365Ile) c.2921C>T (p.Thr974Ile) c.2348C>T (p.Thr783Ile) c.2273C>T (p.Thr758Ile) c.950C>T (p.Thr317Ile) | |
3 | g.38894822G>C | CA2322015 | SCN11A | c.2546C>G (p.Thr849Ser) c.2366C>G (p.Thr789Ser) c.2590C>G (n.2590C>G) c.2165C>G (p.Thr722Ser) c.1883C>G (p.Thr628Ser) c.1094C>G (p.Thr365Ser) c.2921C>G (p.Thr974Ser) c.2348C>G (p.Thr783Ser) c.2273C>G (p.Thr758Ser) c.950C>G (p.Thr317Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894822G= | CA1358718238 | SCN11A | c.2546C= (p.Thr849=) c.2366C= (p.Thr789=) c.2590C= (n.2590C=) c.2165C= (p.Thr722=) c.1883C= (p.Thr628=) c.1094C= (p.Thr365=) c.2921C= (p.Thr974=) c.2348C= (p.Thr783=) c.2273C= (p.Thr758=) c.950C= (p.Thr317=) | |
3 | g.38894822G>T | CA352174915 | SCN11A | c.2546C>A (p.Thr849Asn) c.2366C>A (p.Thr789Asn) c.2590C>A (n.2590C>A) c.2165C>A (p.Thr722Asn) c.1883C>A (p.Thr628Asn) c.1094C>A (p.Thr365Asn) c.2921C>A (p.Thr974Asn) c.2348C>A (p.Thr783Asn) c.2273C>A (p.Thr758Asn) c.950C>A (p.Thr317Asn) | |
3 | g.38894823T>A | CA352174917 | SCN11A | c.2545A>T (p.Thr849Ser) c.2365A>T (p.Thr789Ser) c.2589A>T (n.2589A>T) c.2164A>T (p.Thr722Ser) c.1882A>T (p.Thr628Ser) c.1093A>T (p.Thr365Ser) c.2920A>T (p.Thr974Ser) c.2347A>T (p.Thr783Ser) c.2272A>T (p.Thr758Ser) c.949A>T (p.Thr317Ser) | |
3 | g.38894823T>C | CA72997672 | SCN11A | c.2545A>G (p.Thr849Ala) c.2365A>G (p.Thr789Ala) c.2589A>G (n.2589A>G) c.2164A>G (p.Thr722Ala) c.1882A>G (p.Thr628Ala) c.1093A>G (p.Thr365Ala) c.2920A>G (p.Thr974Ala) c.2347A>G (p.Thr783Ala) c.2272A>G (p.Thr758Ala) c.949A>G (p.Thr317Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38894823T>G | CA352174916 | SCN11A | c.2545A>C (p.Thr849Pro) c.2365A>C (p.Thr789Pro) c.2589A>C (n.2589A>C) c.2164A>C (p.Thr722Pro) c.1882A>C (p.Thr628Pro) c.1093A>C (p.Thr365Pro) c.2920A>C (p.Thr974Pro) c.2347A>C (p.Thr783Pro) c.2272A>C (p.Thr758Pro) c.949A>C (p.Thr317Pro) | |
3 | g.38894823T= | CA1358718239 | SCN11A | c.2545A= (p.Thr849=) c.2365A= (p.Thr789=) c.2589A= (n.2589A=) c.2164A= (p.Thr722=) c.1882A= (p.Thr628=) c.1093A= (p.Thr365=) c.2920A= (p.Thr974=) c.2347A= (p.Thr783=) c.2272A= (p.Thr758=) c.949A= (p.Thr317=) | |
3 | g.38894824G>A | CA433336142 | SCN11A | c.2544C>T (p.His848=) c.2364C>T (p.His788=) c.2588C>T (n.2588C>T) c.2163C>T (p.His721=) c.1881C>T (p.His627=) c.1092C>T (p.His364=) c.2919C>T (p.His973=) c.2346C>T (p.His782=) c.2271C>T (p.His757=) c.948C>T (p.His316=) | |
3 | g.38894824G>C | CA2322016 | SCN11A | c.2544C>G (p.His848Gln) c.2364C>G (p.His788Gln) c.2588C>G (n.2588C>G) c.2163C>G (p.His721Gln) c.1881C>G (p.His627Gln) c.1092C>G (p.His364Gln) c.2919C>G (p.His973Gln) c.2346C>G (p.His782Gln) c.2271C>G (p.His757Gln) c.948C>G (p.His316Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894824G= | CA1358718240 | SCN11A | c.2544C= (p.His848=) c.2364C= (p.His788=) c.2588C= (n.2588C=) c.2163C= (p.His721=) c.1881C= (p.His627=) c.1092C= (p.His364=) c.2919C= (p.His973=) c.2346C= (p.His782=) c.2271C= (p.His757=) c.948C= (p.His316=) | |
3 | g.38894824G>T | CA352174918 | SCN11A | c.2544C>A (p.His848Gln) c.2364C>A (p.His788Gln) c.2588C>A (n.2588C>A) c.2163C>A (p.His721Gln) c.1881C>A (p.His627Gln) c.1092C>A (p.His364Gln) c.2919C>A (p.His973Gln) c.2346C>A (p.His782Gln) c.2271C>A (p.His757Gln) c.948C>A (p.His316Gln) | |
3 | g.38894825T>A | CA352174919 | SCN11A | c.2543A>T (p.His848Leu) c.2363A>T (p.His788Leu) c.2587A>T (n.2587A>T) c.2162A>T (p.His721Leu) c.1880A>T (p.His627Leu) c.1091A>T (p.His364Leu) c.2918A>T (p.His973Leu) c.2345A>T (p.His782Leu) c.2270A>T (p.His757Leu) c.947A>T (p.His316Leu) | |
3 | g.38894825T>C | CA352174920 | SCN11A | c.2543A>G (p.His848Arg) c.2363A>G (p.His788Arg) c.2587A>G (n.2587A>G) c.2162A>G (p.His721Arg) c.1880A>G (p.His627Arg) c.1091A>G (p.His364Arg) c.2918A>G (p.His973Arg) c.2345A>G (p.His782Arg) c.2270A>G (p.His757Arg) c.947A>G (p.His316Arg) | gnomAD v4 |
3 | g.38894825T>G | CA352174921 | SCN11A | c.2543A>C (p.His848Pro) c.2363A>C (p.His788Pro) c.2587A>C (n.2587A>C) c.2162A>C (p.His721Pro) c.1880A>C (p.His627Pro) c.1091A>C (p.His364Pro) c.2918A>C (p.His973Pro) c.2345A>C (p.His782Pro) c.2270A>C (p.His757Pro) c.947A>C (p.His316Pro) | |
3 | g.38894826G>A | CA352174924 | SCN11A | c.2542C>T (p.His848Tyr) c.2362C>T (p.His788Tyr) c.2586C>T (n.2586C>T) c.2161C>T (p.His721Tyr) c.1879C>T (p.His627Tyr) c.1090C>T (p.His364Tyr) c.2917C>T (p.His973Tyr) c.2344C>T (p.His782Tyr) c.2269C>T (p.His757Tyr) c.946C>T (p.His316Tyr) | |
3 | g.38894826G>C | CA352174922 | SCN11A | c.2542C>G (p.His848Asp) c.2362C>G (p.His788Asp) c.2586C>G (n.2586C>G) c.2161C>G (p.His721Asp) c.1879C>G (p.His627Asp) c.1090C>G (p.His364Asp) c.2917C>G (p.His973Asp) c.2344C>G (p.His782Asp) c.2269C>G (p.His757Asp) c.946C>G (p.His316Asp) | |
3 | g.38894826G>T | CA352174923 | SCN11A | c.2542C>A (p.His848Asn) c.2362C>A (p.His788Asn) c.2586C>A (n.2586C>A) c.2161C>A (p.His721Asn) c.1879C>A (p.His627Asn) c.1090C>A (p.His364Asn) c.2917C>A (p.His973Asn) c.2344C>A (p.His782Asn) c.2269C>A (p.His757Asn) c.946C>A (p.His316Asn) | |
3 | g.38894827T>A | CA352174925 | SCN11A | c.2541A>T (p.Arg847Ser) c.2361A>T (p.Arg787Ser) c.2585A>T (n.2585A>T) c.2160A>T (p.Arg720Ser) c.1878A>T (p.Arg626Ser) c.1089A>T (p.Arg363Ser) c.2916A>T (p.Arg972Ser) c.2343A>T (p.Arg781Ser) c.2268A>T (p.Arg756Ser) c.945A>T (p.Arg315Ser) | |
3 | g.38894827T>C | CA2322017 | SCN11A | c.2541A>G (p.Arg847=) c.2361A>G (p.Arg787=) c.2585A>G (n.2585A>G) c.2160A>G (p.Arg720=) c.1878A>G (p.Arg626=) c.1089A>G (p.Arg363=) c.2916A>G (p.Arg972=) c.2343A>G (p.Arg781=) c.2268A>G (p.Arg756=) c.945A>G (p.Arg315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894827T>G | CA352174926 | SCN11A | c.2541A>C (p.Arg847Ser) c.2361A>C (p.Arg787Ser) c.2585A>C (n.2585A>C) c.2160A>C (p.Arg720Ser) c.1878A>C (p.Arg626Ser) c.1089A>C (p.Arg363Ser) c.2916A>C (p.Arg972Ser) c.2343A>C (p.Arg781Ser) c.2268A>C (p.Arg756Ser) c.945A>C (p.Arg315Ser) | |
3 | g.38894827T= | CA1358718241 | SCN11A | c.2541A= (p.Arg847=) c.2361A= (p.Arg787=) c.2585A= (n.2585A=) c.2160A= (p.Arg720=) c.1878A= (p.Arg626=) c.1089A= (p.Arg363=) c.2916A= (p.Arg972=) c.2343A= (p.Arg781=) c.2268A= (p.Arg756=) c.945A= (p.Arg315=) | |
3 | g.38894828C>A | CA352174927 | SCN11A | c.2540G>T (p.Arg847Ile) c.2360G>T (p.Arg787Ile) c.2584G>T (n.2584G>T) c.2159G>T (p.Arg720Ile) c.1877G>T (p.Arg626Ile) c.1088G>T (p.Arg363Ile) c.2915G>T (p.Arg972Ile) c.2342G>T (p.Arg781Ile) c.2267G>T (p.Arg756Ile) c.944G>T (p.Arg315Ile) | |
3 | g.38894828C>G | CA352174928 | SCN11A | c.2540G>C (p.Arg847Thr) c.2360G>C (p.Arg787Thr) c.2584G>C (n.2584G>C) c.2159G>C (p.Arg720Thr) c.1877G>C (p.Arg626Thr) c.1088G>C (p.Arg363Thr) c.2915G>C (p.Arg972Thr) c.2342G>C (p.Arg781Thr) c.2267G>C (p.Arg756Thr) c.944G>C (p.Arg315Thr) | |
3 | g.38894828C>T | CA352174929 | SCN11A | c.2540G>A (p.Arg847Lys) c.2360G>A (p.Arg787Lys) c.2584G>A (n.2584G>A) c.2159G>A (p.Arg720Lys) c.1877G>A (p.Arg626Lys) c.1088G>A (p.Arg363Lys) c.2915G>A (p.Arg972Lys) c.2342G>A (p.Arg781Lys) c.2267G>A (p.Arg756Lys) c.944G>A (p.Arg315Lys) | |
3 | g.38894829T>A | CA352174930 | SCN11A | c.2539A>T (p.Arg847Ter) c.2359A>T (p.Arg787Ter) c.2583A>T (n.2583A>T) c.2158A>T (p.Arg720Ter) c.1876A>T (p.Arg626Ter) c.1087A>T (p.Arg363Ter) c.2914A>T (p.Arg972Ter) c.2341A>T (p.Arg781Ter) c.2266A>T (p.Arg756Ter) c.943A>T (p.Arg315Ter) | dbSNP gnomAD v4 |
3 | g.38894829T>C | CA352174931 | SCN11A | c.2539A>G (p.Arg847Gly) c.2359A>G (p.Arg787Gly) c.2583A>G (n.2583A>G) c.2158A>G (p.Arg720Gly) c.1876A>G (p.Arg626Gly) c.1087A>G (p.Arg363Gly) c.2914A>G (p.Arg972Gly) c.2341A>G (p.Arg781Gly) c.2266A>G (p.Arg756Gly) c.943A>G (p.Arg315Gly) | |
3 | g.38894829T>G | CA433336146 | SCN11A | c.2539A>C (p.Arg847=) c.2359A>C (p.Arg787=) c.2583A>C (n.2583A>C) c.2158A>C (p.Arg720=) c.1876A>C (p.Arg626=) c.1087A>C (p.Arg363=) c.2914A>C (p.Arg972=) c.2341A>C (p.Arg781=) c.2266A>C (p.Arg756=) c.943A>C (p.Arg315=) | |
3 | g.38894829T= | CA1358718242 | SCN11A | c.2539A= (p.Arg847=) c.2359A= (p.Arg787=) c.2583A= (n.2583A=) c.2158A= (p.Arg720=) c.1876A= (p.Arg626=) c.1087A= (p.Arg363=) c.2914A= (p.Arg972=) c.2341A= (p.Arg781=) c.2266A= (p.Arg756=) c.943A= (p.Arg315=) | |
3 | g.38894830C>A | CA433336147 | SCN11A | c.2538G>T (p.Val846=) c.2358G>T (p.Val786=) c.2582G>T (n.2582G>T) c.2157G>T (p.Val719=) c.1875G>T (p.Val625=) c.1086G>T (p.Val362=) c.2913G>T (p.Val971=) c.2340G>T (p.Val780=) c.2265G>T (p.Val755=) c.942G>T (p.Val314=) | |
3 | g.38894830C= | CA1358718243 | SCN11A | c.2538G= (p.Val846=) c.2358G= (p.Val786=) c.2582G= (n.2582G=) c.2157G= (p.Val719=) c.1875G= (p.Val625=) c.1086G= (p.Val362=) c.2913G= (p.Val971=) c.2340G= (p.Val780=) c.2265G= (p.Val755=) c.942G= (p.Val314=) | |
3 | g.38894830C>G | CA433336149 | SCN11A | c.2538G>C (p.Val846=) c.2358G>C (p.Val786=) c.2582G>C (n.2582G>C) c.2157G>C (p.Val719=) c.1875G>C (p.Val625=) c.1086G>C (p.Val362=) c.2913G>C (p.Val971=) c.2340G>C (p.Val780=) c.2265G>C (p.Val755=) c.942G>C (p.Val314=) | |
3 | g.38894830C>T | CA2322018 | SCN11A | c.2538G>A (p.Val846=) c.2358G>A (p.Val786=) c.2582G>A (n.2582G>A) c.2157G>A (p.Val719=) c.1875G>A (p.Val625=) c.1086G>A (p.Val362=) c.2913G>A (p.Val971=) c.2340G>A (p.Val780=) c.2265G>A (p.Val755=) c.942G>A (p.Val314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894831A= | CA1358718244 | SCN11A | c.2537T= (p.Val846=) c.2357T= (p.Val786=) c.2581T= (n.2581T=) c.2156T= (p.Val719=) c.1874T= (p.Val625=) c.1085T= (p.Val362=) c.2912T= (p.Val971=) c.2339T= (p.Val780=) c.2264T= (p.Val755=) c.941T= (p.Val314=) | |
3 | g.38894831A>C | CA352174932 | SCN11A | c.2537T>G (p.Val846Gly) c.2357T>G (p.Val786Gly) c.2581T>G (n.2581T>G) c.2156T>G (p.Val719Gly) c.1874T>G (p.Val625Gly) c.1085T>G (p.Val362Gly) c.2912T>G (p.Val971Gly) c.2339T>G (p.Val780Gly) c.2264T>G (p.Val755Gly) c.941T>G (p.Val314Gly) | |
3 | g.38894831A>G | CA352174933 | SCN11A | c.2537T>C (p.Val846Ala) c.2357T>C (p.Val786Ala) c.2581T>C (n.2581T>C) c.2156T>C (p.Val719Ala) c.1874T>C (p.Val625Ala) c.1085T>C (p.Val362Ala) c.2912T>C (p.Val971Ala) c.2339T>C (p.Val780Ala) c.2264T>C (p.Val755Ala) c.941T>C (p.Val314Ala) | |
3 | g.38894831A>T | CA352174934 | SCN11A | c.2537T>A (p.Val846Glu) c.2357T>A (p.Val786Glu) c.2581T>A (n.2581T>A) c.2156T>A (p.Val719Glu) c.1874T>A (p.Val625Glu) c.1085T>A (p.Val362Glu) c.2912T>A (p.Val971Glu) c.2339T>A (p.Val780Glu) c.2264T>A (p.Val755Glu) c.941T>A (p.Val314Glu) | dbSNP |
3 | g.38894832C>A | CA352174935 | SCN11A | c.2536G>T (p.Val846Leu) c.2356G>T (p.Val786Leu) c.2580G>T (n.2580G>T) c.2155G>T (p.Val719Leu) c.1873G>T (p.Val625Leu) c.1084G>T (p.Val362Leu) c.2911G>T (p.Val971Leu) c.2338G>T (p.Val780Leu) c.2263G>T (p.Val755Leu) c.940G>T (p.Val314Leu) | |
3 | g.38894832C= | CA1358718245 | SCN11A | c.2536G= (p.Val846=) c.2356G= (p.Val786=) c.2580G= (n.2580G=) c.2155G= (p.Val719=) c.1873G= (p.Val625=) c.1084G= (p.Val362=) c.2911G= (p.Val971=) c.2338G= (p.Val780=) c.2263G= (p.Val755=) c.940G= (p.Val314=) | |
3 | g.38894832C>G | CA352174936 | SCN11A | c.2536G>C (p.Val846Leu) c.2356G>C (p.Val786Leu) c.2580G>C (n.2580G>C) c.2155G>C (p.Val719Leu) c.1873G>C (p.Val625Leu) c.1084G>C (p.Val362Leu) c.2911G>C (p.Val971Leu) c.2338G>C (p.Val780Leu) c.2263G>C (p.Val755Leu) c.940G>C (p.Val314Leu) | |
3 | g.38894832C>T | CA72997691 | SCN11A | c.2536G>A (p.Val846Met) c.2356G>A (p.Val786Met) c.2580G>A (n.2580G>A) c.2155G>A (p.Val719Met) c.1873G>A (p.Val625Met) c.1084G>A (p.Val362Met) c.2911G>A (p.Val971Met) c.2338G>A (p.Val780Met) c.2263G>A (p.Val755Met) c.940G>A (p.Val314Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894833A= | CA1358718246 | SCN11A | c.2535T= (p.Phe845=) c.2355T= (p.Phe785=) c.2579T= (n.2579T=) c.2154T= (p.Phe718=) c.1872T= (p.Phe624=) c.1083T= (p.Phe361=) c.2910T= (p.Phe970=) c.2337T= (p.Phe779=) c.2262T= (p.Phe754=) c.939T= (p.Phe313=) | |
3 | g.38894833A>C | CA352174937 | SCN11A | c.2535T>G (p.Phe845Leu) c.2355T>G (p.Phe785Leu) c.2579T>G (n.2579T>G) c.2154T>G (p.Phe718Leu) c.1872T>G (p.Phe624Leu) c.1083T>G (p.Phe361Leu) c.2910T>G (p.Phe970Leu) c.2337T>G (p.Phe779Leu) c.2262T>G (p.Phe754Leu) c.939T>G (p.Phe313Leu) | |
3 | g.38894833A>G | CA433336151 | SCN11A | c.2535T>C (p.Phe845=) c.2355T>C (p.Phe785=) c.2579T>C (n.2579T>C) c.2154T>C (p.Phe718=) c.1872T>C (p.Phe624=) c.1083T>C (p.Phe361=) c.2910T>C (p.Phe970=) c.2337T>C (p.Phe779=) c.2262T>C (p.Phe754=) c.939T>C (p.Phe313=) | |
3 | g.38894833A>T | CA352174938 | SCN11A | c.2535T>A (p.Phe845Leu) c.2355T>A (p.Phe785Leu) c.2579T>A (n.2579T>A) c.2154T>A (p.Phe718Leu) c.1872T>A (p.Phe624Leu) c.1083T>A (p.Phe361Leu) c.2910T>A (p.Phe970Leu) c.2337T>A (p.Phe779Leu) c.2262T>A (p.Phe754Leu) c.939T>A (p.Phe313Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894836del | CA2577554804 | SCN11A | c.2535del (p.Phe845LeufsTer2) c.2355del (p.Phe785LeufsTer2) c.2579del (n.2579del) c.2154del (p.Phe718LeufsTer2) c.1872del (p.Phe624LeufsTer2) c.1083del (p.Phe361LeufsTer2) c.2910del (p.Phe970LeufsTer2) c.2337del (p.Phe779LeufsTer2) c.2262del (p.Phe754LeufsTer2) c.939del (p.Phe313LeufsTer2) | gnomAD v4 |
3 | g.38894834A>C | CA352174939 | SCN11A | c.2534T>G (p.Phe845Cys) c.2354T>G (p.Phe785Cys) c.2578T>G (n.2578T>G) c.2153T>G (p.Phe718Cys) c.1871T>G (p.Phe624Cys) c.1082T>G (p.Phe361Cys) c.2909T>G (p.Phe970Cys) c.2336T>G (p.Phe779Cys) c.2261T>G (p.Phe754Cys) c.938T>G (p.Phe313Cys) | |
3 | g.38894834A>G | CA352174940 | SCN11A | c.2534T>C (p.Phe845Ser) c.2354T>C (p.Phe785Ser) c.2578T>C (n.2578T>C) c.2153T>C (p.Phe718Ser) c.1871T>C (p.Phe624Ser) c.1082T>C (p.Phe361Ser) c.2909T>C (p.Phe970Ser) c.2336T>C (p.Phe779Ser) c.2261T>C (p.Phe754Ser) c.938T>C (p.Phe313Ser) | |
3 | g.38894834A>T | CA352174941 | SCN11A | c.2534T>A (p.Phe845Tyr) c.2354T>A (p.Phe785Tyr) c.2578T>A (n.2578T>A) c.2153T>A (p.Phe718Tyr) c.1871T>A (p.Phe624Tyr) c.1082T>A (p.Phe361Tyr) c.2909T>A (p.Phe970Tyr) c.2336T>A (p.Phe779Tyr) c.2261T>A (p.Phe754Tyr) c.938T>A (p.Phe313Tyr) | |
3 | g.38894835A>C | CA352174942 | SCN11A | c.2533T>G (p.Phe845Val) c.2353T>G (p.Phe785Val) c.2577T>G (n.2577T>G) c.2152T>G (p.Phe718Val) c.1870T>G (p.Phe624Val) c.1081T>G (p.Phe361Val) c.2908T>G (p.Phe970Val) c.2335T>G (p.Phe779Val) c.2260T>G (p.Phe754Val) c.937T>G (p.Phe313Val) | |
3 | g.38894835A>G | CA352174943 | SCN11A | c.2533T>C (p.Phe845Leu) c.2353T>C (p.Phe785Leu) c.2577T>C (n.2577T>C) c.2152T>C (p.Phe718Leu) c.1870T>C (p.Phe624Leu) c.1081T>C (p.Phe361Leu) c.2908T>C (p.Phe970Leu) c.2335T>C (p.Phe779Leu) c.2260T>C (p.Phe754Leu) c.937T>C (p.Phe313Leu) | |
3 | g.38894835A>T | CA352174944 | SCN11A | c.2533T>A (p.Phe845Ile) c.2353T>A (p.Phe785Ile) c.2577T>A (n.2577T>A) c.2152T>A (p.Phe718Ile) c.1870T>A (p.Phe624Ile) c.1081T>A (p.Phe361Ile) c.2908T>A (p.Phe970Ile) c.2335T>A (p.Phe779Ile) c.2260T>A (p.Phe754Ile) c.937T>A (p.Phe313Ile) | |
3 | g.38894836A= | CA1358718247 | SCN11A | c.2532T= (p.Cys844=) c.2352T= (p.Cys784=) c.2576T= (n.2576T=) c.2151T= (p.Cys717=) c.1869T= (p.Cys623=) c.1080T= (p.Cys360=) c.2907T= (p.Cys969=) c.2334T= (p.Cys778=) c.2259T= (p.Cys753=) c.936T= (p.Cys312=) | |
3 | g.38894836A>C | CA352174945 | SCN11A | c.2532T>G (p.Cys844Trp) c.2352T>G (p.Cys784Trp) c.2576T>G (n.2576T>G) c.2151T>G (p.Cys717Trp) c.1869T>G (p.Cys623Trp) c.1080T>G (p.Cys360Trp) c.2907T>G (p.Cys969Trp) c.2334T>G (p.Cys778Trp) c.2259T>G (p.Cys753Trp) c.936T>G (p.Cys312Trp) | |
3 | g.38894836A>G | CA433336153 | SCN11A | c.2532T>C (p.Cys844=) c.2352T>C (p.Cys784=) c.2576T>C (n.2576T>C) c.2151T>C (p.Cys717=) c.1869T>C (p.Cys623=) c.1080T>C (p.Cys360=) c.2907T>C (p.Cys969=) c.2334T>C (p.Cys778=) c.2259T>C (p.Cys753=) c.936T>C (p.Cys312=) | |
3 | g.38894836A>T | CA352174946 | SCN11A | c.2532T>A (p.Cys844Ter) c.2352T>A (p.Cys784Ter) c.2576T>A (n.2576T>A) c.2151T>A (p.Cys717Ter) c.1869T>A (p.Cys623Ter) c.1080T>A (p.Cys360Ter) c.2907T>A (p.Cys969Ter) c.2334T>A (p.Cys778Ter) c.2259T>A (p.Cys753Ter) c.936T>A (p.Cys312Ter) | dbSNP |
3 | g.38894837C>A | CA352174947 | SCN11A | c.2531G>T (p.Cys844Phe) c.2351G>T (p.Cys784Phe) c.2575G>T (n.2575G>T) c.2150G>T (p.Cys717Phe) c.1868G>T (p.Cys623Phe) c.1079G>T (p.Cys360Phe) c.2906G>T (p.Cys969Phe) c.2333G>T (p.Cys778Phe) c.2258G>T (p.Cys753Phe) c.935G>T (p.Cys312Phe) | gnomAD v4 |
3 | g.38894837C= | CA1358718248 | SCN11A | c.2531G= (p.Cys844=) c.2351G= (p.Cys784=) c.2575G= (n.2575G=) c.2150G= (p.Cys717=) c.1868G= (p.Cys623=) c.1079G= (p.Cys360=) c.2906G= (p.Cys969=) c.2333G= (p.Cys778=) c.2258G= (p.Cys753=) c.935G= (p.Cys312=) | |
3 | g.38894837C>G | CA352174948 | SCN11A | c.2531G>C (p.Cys844Ser) c.2351G>C (p.Cys784Ser) c.2575G>C (n.2575G>C) c.2150G>C (p.Cys717Ser) c.1868G>C (p.Cys623Ser) c.1079G>C (p.Cys360Ser) c.2906G>C (p.Cys969Ser) c.2333G>C (p.Cys778Ser) c.2258G>C (p.Cys753Ser) c.935G>C (p.Cys312Ser) | |
3 | g.38894837C>T | CA2322019 | SCN11A | c.2531G>A (p.Cys844Tyr) c.2351G>A (p.Cys784Tyr) c.2575G>A (n.2575G>A) c.2150G>A (p.Cys717Tyr) c.1868G>A (p.Cys623Tyr) c.1079G>A (p.Cys360Tyr) c.2906G>A (p.Cys969Tyr) c.2333G>A (p.Cys778Tyr) c.2258G>A (p.Cys753Tyr) c.935G>A (p.Cys312Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894838A= | CA1358718249 | SCN11A | c.2530T= (p.Cys844=) c.2350T= (p.Cys784=) c.2574T= (n.2574T=) c.2149T= (p.Cys717=) c.1867T= (p.Cys623=) c.1078T= (p.Cys360=) c.2905T= (p.Cys969=) c.2332T= (p.Cys778=) c.2257T= (p.Cys753=) c.934T= (p.Cys312=) | |
3 | g.38894838A>C | CA352174949 | SCN11A | c.2530T>G (p.Cys844Gly) c.2350T>G (p.Cys784Gly) c.2574T>G (n.2574T>G) c.2149T>G (p.Cys717Gly) c.1867T>G (p.Cys623Gly) c.1078T>G (p.Cys360Gly) c.2905T>G (p.Cys969Gly) c.2332T>G (p.Cys778Gly) c.2257T>G (p.Cys753Gly) c.934T>G (p.Cys312Gly) | |
3 | g.38894838A>G | CA2322020 | SCN11A | c.2530T>C (p.Cys844Arg) c.2350T>C (p.Cys784Arg) c.2574T>C (n.2574T>C) c.2149T>C (p.Cys717Arg) c.1867T>C (p.Cys623Arg) c.1078T>C (p.Cys360Arg) c.2905T>C (p.Cys969Arg) c.2332T>C (p.Cys778Arg) c.2257T>C (p.Cys753Arg) c.934T>C (p.Cys312Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894838A>T | CA352174950 | SCN11A | c.2530T>A (p.Cys844Ser) c.2350T>A (p.Cys784Ser) c.2574T>A (n.2574T>A) c.2149T>A (p.Cys717Ser) c.1867T>A (p.Cys623Ser) c.1078T>A (p.Cys360Ser) c.2905T>A (p.Cys969Ser) c.2332T>A (p.Cys778Ser) c.2257T>A (p.Cys753Ser) c.934T>A (p.Cys312Ser) | |
3 | g.38894838_38894839insCACCAAACACACCCAACAC | CA2755906863 | SCN11A | c.2529_2530insGTGTTGGGTGTGTTTGGTG (p.Cys844ValfsTer14) c.2349_2350insGTGTTGGGTGTGTTTGGTG (p.Cys784ValfsTer14) c.2573_2574insGTGTTGGGTGTGTTTGGTG (n.2573_2574insGTGTTGGGTGTGTTTGGTG) c.2148_2149insGTGTTGGGTGTGTTTGGTG (p.Cys717ValfsTer14) c.1866_1867insGTGTTGGGTGTGTTTGGTG (p.Cys623ValfsTer14) c.1077_1078insGTGTTGGGTGTGTTTGGTG (p.Cys360ValfsTer14) c.2904_2905insGTGTTGGGTGTGTTTGGTG (p.Cys969ValfsTer14) c.2331_2332insGTGTTGGGTGTGTTTGGTG (p.Cys778ValfsTer14) c.2256_2257insGTGTTGGGTGTGTTTGGTG (p.Cys753ValfsTer14) c.933_934insGTGTTGGGTGTGTTTGGTG (p.Cys312ValfsTer14) | |
3 | g.38894839A= | CA1358718250 | SCN11A | c.2529T= (p.Phe843=) c.2349T= (p.Phe783=) c.2573T= (n.2573T=) c.2148T= (p.Phe716=) c.1866T= (p.Phe622=) c.1077T= (p.Phe359=) c.2904T= (p.Phe968=) c.2331T= (p.Phe777=) c.2256T= (p.Phe752=) c.933T= (p.Phe311=) | |
3 | g.38894839A>C | CA352174951 | SCN11A | c.2529T>G (p.Phe843Leu) c.2349T>G (p.Phe783Leu) c.2573T>G (n.2573T>G) c.2148T>G (p.Phe716Leu) c.1866T>G (p.Phe622Leu) c.1077T>G (p.Phe359Leu) c.2904T>G (p.Phe968Leu) c.2331T>G (p.Phe777Leu) c.2256T>G (p.Phe752Leu) c.933T>G (p.Phe311Leu) | |
3 | g.38894839A>G | CA2322021 | SCN11A | c.2529T>C (p.Phe843=) c.2349T>C (p.Phe783=) c.2573T>C (n.2573T>C) c.2148T>C (p.Phe716=) c.1866T>C (p.Phe622=) c.1077T>C (p.Phe359=) c.2904T>C (p.Phe968=) c.2331T>C (p.Phe777=) c.2256T>C (p.Phe752=) c.933T>C (p.Phe311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894839A>T | CA352174952 | SCN11A | c.2529T>A (p.Phe843Leu) c.2349T>A (p.Phe783Leu) c.2573T>A (n.2573T>A) c.2148T>A (p.Phe716Leu) c.1866T>A (p.Phe622Leu) c.1077T>A (p.Phe359Leu) c.2904T>A (p.Phe968Leu) c.2331T>A (p.Phe777Leu) c.2256T>A (p.Phe752Leu) c.933T>A (p.Phe311Leu) | |
3 | g.38894840A= | CA1358718251 | SCN11A | c.2528T= (p.Phe843=) c.2348T= (p.Phe783=) c.2572T= (n.2572T=) c.2147T= (p.Phe716=) c.1865T= (p.Phe622=) c.1076T= (p.Phe359=) c.2903T= (p.Phe968=) c.2330T= (p.Phe777=) c.2255T= (p.Phe752=) c.932T= (p.Phe311=) | |
3 | g.38894840A>C | CA352174953 | SCN11A | c.2528T>G (p.Phe843Cys) c.2348T>G (p.Phe783Cys) c.2572T>G (n.2572T>G) c.2147T>G (p.Phe716Cys) c.1865T>G (p.Phe622Cys) c.1076T>G (p.Phe359Cys) c.2903T>G (p.Phe968Cys) c.2330T>G (p.Phe777Cys) c.2255T>G (p.Phe752Cys) c.932T>G (p.Phe311Cys) | |
3 | g.38894840A>G | CA352174954 | SCN11A | c.2528T>C (p.Phe843Ser) c.2348T>C (p.Phe783Ser) c.2572T>C (n.2572T>C) c.2147T>C (p.Phe716Ser) c.1865T>C (p.Phe622Ser) c.1076T>C (p.Phe359Ser) c.2903T>C (p.Phe968Ser) c.2330T>C (p.Phe777Ser) c.2255T>C (p.Phe752Ser) c.932T>C (p.Phe311Ser) | dbSNP |
3 | g.38894840A>T | CA352174955 | SCN11A | c.2528T>A (p.Phe843Tyr) c.2348T>A (p.Phe783Tyr) c.2572T>A (n.2572T>A) c.2147T>A (p.Phe716Tyr) c.1865T>A (p.Phe622Tyr) c.1076T>A (p.Phe359Tyr) c.2903T>A (p.Phe968Tyr) c.2330T>A (p.Phe777Tyr) c.2255T>A (p.Phe752Tyr) c.932T>A (p.Phe311Tyr) | |
3 | g.38894841A>C | CA352174956 | SCN11A | c.2527T>G (p.Phe843Val) c.2347T>G (p.Phe783Val) c.2571T>G (n.2571T>G) c.2146T>G (p.Phe716Val) c.1864T>G (p.Phe622Val) c.1075T>G (p.Phe359Val) c.2902T>G (p.Phe968Val) c.2329T>G (p.Phe777Val) c.2254T>G (p.Phe752Val) c.931T>G (p.Phe311Val) | |
3 | g.38894841A>G | CA352174957 | SCN11A | c.2527T>C (p.Phe843Leu) c.2347T>C (p.Phe783Leu) c.2571T>C (n.2571T>C) c.2146T>C (p.Phe716Leu) c.1864T>C (p.Phe622Leu) c.1075T>C (p.Phe359Leu) c.2902T>C (p.Phe968Leu) c.2329T>C (p.Phe777Leu) c.2254T>C (p.Phe752Leu) c.931T>C (p.Phe311Leu) | |
3 | g.38894841A>T | CA352174958 | SCN11A | c.2527T>A (p.Phe843Ile) c.2347T>A (p.Phe783Ile) c.2571T>A (n.2571T>A) c.2146T>A (p.Phe716Ile) c.1864T>A (p.Phe622Ile) c.1075T>A (p.Phe359Ile) c.2902T>A (p.Phe968Ile) c.2329T>A (p.Phe777Ile) c.2254T>A (p.Phe752Ile) c.931T>A (p.Phe311Ile) | |
3 | g.38894842A>C | CA433336156 | SCN11A | c.2526T>G (p.Ala842=) c.2346T>G (p.Ala782=) c.2570T>G (n.2570T>G) c.2145T>G (p.Ala715=) c.1863T>G (p.Ala621=) c.1074T>G (p.Ala358=) c.2901T>G (p.Ala967=) c.2328T>G (p.Ala776=) c.2253T>G (p.Ala751=) c.930T>G (p.Ala310=) | |
3 | g.38894842A>G | CA433336157 | SCN11A | c.2526T>C (p.Ala842=) c.2346T>C (p.Ala782=) c.2570T>C (n.2570T>C) c.2145T>C (p.Ala715=) c.1863T>C (p.Ala621=) c.1074T>C (p.Ala358=) c.2901T>C (p.Ala967=) c.2328T>C (p.Ala776=) c.2253T>C (p.Ala751=) c.930T>C (p.Ala310=) | |
3 | g.38894842A>T | CA433336158 | SCN11A | c.2526T>A (p.Ala842=) c.2346T>A (p.Ala782=) c.2570T>A (n.2570T>A) c.2145T>A (p.Ala715=) c.1863T>A (p.Ala621=) c.1074T>A (p.Ala358=) c.2901T>A (p.Ala967=) c.2328T>A (p.Ala776=) c.2253T>A (p.Ala751=) c.930T>A (p.Ala310=) | |
3 | g.38894843G>A | CA352174961 | SCN11A | c.2525C>T (p.Ala842Val) c.2345C>T (p.Ala782Val) c.2569C>T (n.2569C>T) c.2144C>T (p.Ala715Val) c.1862C>T (p.Ala621Val) c.1073C>T (p.Ala358Val) c.2900C>T (p.Ala967Val) c.2327C>T (p.Ala776Val) c.2252C>T (p.Ala751Val) c.929C>T (p.Ala310Val) | gnomAD v4 COSMIC |
3 | g.38894843G>C | CA352174960 | SCN11A | c.2525C>G (p.Ala842Gly) c.2345C>G (p.Ala782Gly) c.2569C>G (n.2569C>G) c.2144C>G (p.Ala715Gly) c.1862C>G (p.Ala621Gly) c.1073C>G (p.Ala358Gly) c.2900C>G (p.Ala967Gly) c.2327C>G (p.Ala776Gly) c.2252C>G (p.Ala751Gly) c.929C>G (p.Ala310Gly) | |
3 | g.38894843G>T | CA352174959 | SCN11A | c.2525C>A (p.Ala842Asp) c.2345C>A (p.Ala782Asp) c.2569C>A (n.2569C>A) c.2144C>A (p.Ala715Asp) c.1862C>A (p.Ala621Asp) c.1073C>A (p.Ala358Asp) c.2900C>A (p.Ala967Asp) c.2327C>A (p.Ala776Asp) c.2252C>A (p.Ala751Asp) c.929C>A (p.Ala310Asp) | |
3 | g.38894844C>A | CA352174962 | SCN11A | c.2524G>T (p.Ala842Ser) c.2344G>T (p.Ala782Ser) c.2568G>T (n.2568G>T) c.2143G>T (p.Ala715Ser) c.1861G>T (p.Ala621Ser) c.1072G>T (p.Ala358Ser) c.2899G>T (p.Ala967Ser) c.2326G>T (p.Ala776Ser) c.2251G>T (p.Ala751Ser) c.928G>T (p.Ala310Ser) | |
3 | g.38894844C= | CA1358718252 | SCN11A | c.2524G= (p.Ala842=) c.2344G= (p.Ala782=) c.2568G= (n.2568G=) c.2143G= (p.Ala715=) c.1861G= (p.Ala621=) c.1072G= (p.Ala358=) c.2899G= (p.Ala967=) c.2326G= (p.Ala776=) c.2251G= (p.Ala751=) c.928G= (p.Ala310=) | |
3 | g.38894844C>G | CA352174963 | SCN11A | c.2524G>C (p.Ala842Pro) c.2344G>C (p.Ala782Pro) c.2568G>C (n.2568G>C) c.2143G>C (p.Ala715Pro) c.1861G>C (p.Ala621Pro) c.1072G>C (p.Ala358Pro) c.2899G>C (p.Ala967Pro) c.2326G>C (p.Ala776Pro) c.2251G>C (p.Ala751Pro) c.928G>C (p.Ala310Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894844C>T | CA352174964 | SCN11A | c.2524G>A (p.Ala842Thr) c.2344G>A (p.Ala782Thr) c.2568G>A (n.2568G>A) c.2143G>A (p.Ala715Thr) c.1861G>A (p.Ala621Thr) c.1072G>A (p.Ala358Thr) c.2899G>A (p.Ala967Thr) c.2326G>A (p.Ala776Thr) c.2251G>A (p.Ala751Thr) c.928G>A (p.Ala310Thr) | gnomAD v4 |
3 | g.38894845C>A | CA433336160 | SCN11A | c.2523G>T (p.Arg841=) c.2343G>T (p.Arg781=) c.2567G>T (n.2567G>T) c.2142G>T (p.Arg714=) c.1860G>T (p.Arg620=) c.1071G>T (p.Arg357=) c.2898G>T (p.Arg966=) c.2325G>T (p.Arg775=) c.2250G>T (p.Arg750=) c.927G>T (p.Arg309=) | |
3 | g.38894845C= | CA1358718253 | SCN11A | c.2523G= (p.Arg841=) c.2343G= (p.Arg781=) c.2567G= (n.2567G=) c.2142G= (p.Arg714=) c.1860G= (p.Arg620=) c.1071G= (p.Arg357=) c.2898G= (p.Arg966=) c.2325G= (p.Arg775=) c.2250G= (p.Arg750=) c.927G= (p.Arg309=) | |
3 | g.38894845C>G | CA433336161 | SCN11A | c.2523G>C (p.Arg841=) c.2343G>C (p.Arg781=) c.2567G>C (n.2567G>C) c.2142G>C (p.Arg714=) c.1860G>C (p.Arg620=) c.1071G>C (p.Arg357=) c.2898G>C (p.Arg966=) c.2325G>C (p.Arg775=) c.2250G>C (p.Arg750=) c.927G>C (p.Arg309=) | |
3 | g.38894845C>T | CA433336162 | SCN11A | c.2523G>A (p.Arg841=) c.2343G>A (p.Arg781=) c.2567G>A (n.2567G>A) c.2142G>A (p.Arg714=) c.1860G>A (p.Arg620=) c.1071G>A (p.Arg357=) c.2898G>A (p.Arg966=) c.2325G>A (p.Arg775=) c.2250G>A (p.Arg750=) c.927G>A (p.Arg309=) | dbSNP gnomAD v4 |
3 | g.38894846C>A | CA352174965 | SCN11A | c.2522G>T (p.Arg841Leu) c.2342G>T (p.Arg781Leu) c.2566G>T (n.2566G>T) c.2141G>T (p.Arg714Leu) c.1859G>T (p.Arg620Leu) c.1070G>T (p.Arg357Leu) c.2897G>T (p.Arg966Leu) c.2324G>T (p.Arg775Leu) c.2249G>T (p.Arg750Leu) c.926G>T (p.Arg309Leu) | |
3 | g.38894846C= | CA1358718254 | SCN11A | c.2522G= (p.Arg841=) c.2342G= (p.Arg781=) c.2566G= (n.2566G=) c.2141G= (p.Arg714=) c.1859G= (p.Arg620=) c.1070G= (p.Arg357=) c.2897G= (p.Arg966=) c.2324G= (p.Arg775=) c.2249G= (p.Arg750=) c.926G= (p.Arg309=) | |
3 | g.38894846C>G | CA352174966 | SCN11A | c.2522G>C (p.Arg841Pro) c.2342G>C (p.Arg781Pro) c.2566G>C (n.2566G>C) c.2141G>C (p.Arg714Pro) c.1859G>C (p.Arg620Pro) c.1070G>C (p.Arg357Pro) c.2897G>C (p.Arg966Pro) c.2324G>C (p.Arg775Pro) c.2249G>C (p.Arg750Pro) c.926G>C (p.Arg309Pro) | |
3 | g.38894846C>T | CA2322022 | SCN11A | c.2522G>A (p.Arg841Gln) c.2342G>A (p.Arg781Gln) c.2566G>A (n.2566G>A) c.2141G>A (p.Arg714Gln) c.1859G>A (p.Arg620Gln) c.1070G>A (p.Arg357Gln) c.2897G>A (p.Arg966Gln) c.2324G>A (p.Arg775Gln) c.2249G>A (p.Arg750Gln) c.926G>A (p.Arg309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894847G>A | CA2322023 | SCN11A | c.2521C>T (p.Arg841Trp) c.2341C>T (p.Arg781Trp) c.2565C>T (n.2565C>T) c.2140C>T (p.Arg714Trp) c.1858C>T (p.Arg620Trp) c.1069C>T (p.Arg357Trp) c.2896C>T (p.Arg966Trp) c.2323C>T (p.Arg775Trp) c.2248C>T (p.Arg750Trp) c.925C>T (p.Arg309Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894847G>C | CA352174967 | SCN11A | c.2521C>G (p.Arg841Gly) c.2341C>G (p.Arg781Gly) c.2565C>G (n.2565C>G) c.2140C>G (p.Arg714Gly) c.1858C>G (p.Arg620Gly) c.1069C>G (p.Arg357Gly) c.2896C>G (p.Arg966Gly) c.2323C>G (p.Arg775Gly) c.2248C>G (p.Arg750Gly) c.925C>G (p.Arg309Gly) | |
3 | g.38894847G= | CA1358718255 | SCN11A | c.2521C= (p.Arg841=) c.2341C= (p.Arg781=) c.2565C= (n.2565C=) c.2140C= (p.Arg714=) c.1858C= (p.Arg620=) c.1069C= (p.Arg357=) c.2896C= (p.Arg966=) c.2323C= (p.Arg775=) c.2248C= (p.Arg750=) c.925C= (p.Arg309=) | |
3 | g.38894847G>T | CA433336165 | SCN11A | c.2521C>A (p.Arg841=) c.2341C>A (p.Arg781=) c.2565C>A (n.2565C>A) c.2140C>A (p.Arg714=) c.1858C>A (p.Arg620=) c.1069C>A (p.Arg357=) c.2896C>A (p.Arg966=) c.2323C>A (p.Arg775=) c.2248C>A (p.Arg750=) c.925C>A (p.Arg309=) | |
3 | g.38894848G>A | CA433336167 | SCN11A | c.2520C>T (p.Arg840=) c.2340C>T (p.Arg780=) c.2564C>T (n.2564C>T) c.2139C>T (p.Arg713=) c.1857C>T (p.Arg619=) c.1068C>T (p.Arg356=) c.2895C>T (p.Arg965=) c.2322C>T (p.Arg774=) c.2247C>T (p.Arg749=) c.924C>T (p.Arg308=) | gnomAD v4 |
3 | g.38894848G>C | CA433336168 | SCN11A | c.2520C>G (p.Arg840=) c.2340C>G (p.Arg780=) c.2564C>G (n.2564C>G) c.2139C>G (p.Arg713=) c.1857C>G (p.Arg619=) c.1068C>G (p.Arg356=) c.2895C>G (p.Arg965=) c.2322C>G (p.Arg774=) c.2247C>G (p.Arg749=) c.924C>G (p.Arg308=) | |
3 | g.38894848G>T | CA433336166 | SCN11A | c.2520C>A (p.Arg840=) c.2340C>A (p.Arg780=) c.2564C>A (n.2564C>A) c.2139C>A (p.Arg713=) c.1857C>A (p.Arg619=) c.1068C>A (p.Arg356=) c.2895C>A (p.Arg965=) c.2322C>A (p.Arg774=) c.2247C>A (p.Arg749=) c.924C>A (p.Arg308=) | |
3 | g.38894849C>A | CA2322025 | SCN11A | c.2519G>T (p.Arg840Leu) c.2339G>T (p.Arg780Leu) c.2563G>T (n.2563G>T) c.2138G>T (p.Arg713Leu) c.1856G>T (p.Arg619Leu) c.1067G>T (p.Arg356Leu) c.2894G>T (p.Arg965Leu) c.2321G>T (p.Arg774Leu) c.2246G>T (p.Arg749Leu) c.923G>T (p.Arg308Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38894849C= | CA1358718256 | SCN11A | c.2519G= (p.Arg840=) c.2339G= (p.Arg780=) c.2563G= (n.2563G=) c.2138G= (p.Arg713=) c.1856G= (p.Arg619=) c.1067G= (p.Arg356=) c.2894G= (p.Arg965=) c.2321G= (p.Arg774=) c.2246G= (p.Arg749=) c.923G= (p.Arg308=) | |
3 | g.38894849C>G | CA352174968 | SCN11A | c.2519G>C (p.Arg840Pro) c.2339G>C (p.Arg780Pro) c.2563G>C (n.2563G>C) c.2138G>C (p.Arg713Pro) c.1856G>C (p.Arg619Pro) c.1067G>C (p.Arg356Pro) c.2894G>C (p.Arg965Pro) c.2321G>C (p.Arg774Pro) c.2246G>C (p.Arg749Pro) c.923G>C (p.Arg308Pro) | |
3 | g.38894849C>T | CA2322024 | SCN11A | c.2519G>A (p.Arg840His) c.2339G>A (p.Arg780His) c.2563G>A (n.2563G>A) c.2138G>A (p.Arg713His) c.1856G>A (p.Arg619His) c.1067G>A (p.Arg356His) c.2894G>A (p.Arg965His) c.2321G>A (p.Arg774His) c.2246G>A (p.Arg749His) c.923G>A (p.Arg308His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894850G>A | CA2322026 | SCN11A | c.2518C>T (p.Arg840Cys) c.2338C>T (p.Arg780Cys) c.2562C>T (n.2562C>T) c.2137C>T (p.Arg713Cys) c.1855C>T (p.Arg619Cys) c.1066C>T (p.Arg356Cys) c.2893C>T (p.Arg965Cys) c.2320C>T (p.Arg774Cys) c.2245C>T (p.Arg749Cys) c.922C>T (p.Arg308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894850G>C | CA352174969 | SCN11A | c.2518C>G (p.Arg840Gly) c.2338C>G (p.Arg780Gly) c.2562C>G (n.2562C>G) c.2137C>G (p.Arg713Gly) c.1855C>G (p.Arg619Gly) c.1066C>G (p.Arg356Gly) c.2893C>G (p.Arg965Gly) c.2320C>G (p.Arg774Gly) c.2245C>G (p.Arg749Gly) c.922C>G (p.Arg308Gly) | |
3 | g.38894850G= | CA1358718257 | SCN11A | c.2518C= (p.Arg840=) c.2338C= (p.Arg780=) c.2562C= (n.2562C=) c.2137C= (p.Arg713=) c.1855C= (p.Arg619=) c.1066C= (p.Arg356=) c.2893C= (p.Arg965=) c.2320C= (p.Arg774=) c.2245C= (p.Arg749=) c.922C= (p.Arg308=) | |
3 | g.38894850G>T | CA352174970 | SCN11A | c.2518C>A (p.Arg840Ser) c.2338C>A (p.Arg780Ser) c.2562C>A (n.2562C>A) c.2137C>A (p.Arg713Ser) c.1855C>A (p.Arg619Ser) c.1066C>A (p.Arg356Ser) c.2893C>A (p.Arg965Ser) c.2320C>A (p.Arg774Ser) c.2245C>A (p.Arg749Ser) c.922C>A (p.Arg308Ser) | |
3 | g.38894851G>A | CA433336169 | SCN11A | c.2517C>T (p.Phe839=) c.2337C>T (p.Phe779=) c.2561C>T (n.2561C>T) c.2136C>T (p.Phe712=) c.1854C>T (p.Phe618=) c.1065C>T (p.Phe355=) c.2892C>T (p.Phe964=) c.2319C>T (p.Phe773=) c.2244C>T (p.Phe748=) c.921C>T (p.Phe307=) | ClinVar dbSNP |
3 | g.38894851G>C | CA352174972 | SCN11A | c.2517C>G (p.Phe839Leu) c.2337C>G (p.Phe779Leu) c.2561C>G (n.2561C>G) c.2136C>G (p.Phe712Leu) c.1854C>G (p.Phe618Leu) c.1065C>G (p.Phe355Leu) c.2892C>G (p.Phe964Leu) c.2319C>G (p.Phe773Leu) c.2244C>G (p.Phe748Leu) c.921C>G (p.Phe307Leu) | ClinVar dbSNP |
3 | g.38894851G= | CA1358718258 | SCN11A | c.2517C= (p.Phe839=) c.2337C= (p.Phe779=) c.2561C= (n.2561C=) c.2136C= (p.Phe712=) c.1854C= (p.Phe618=) c.1065C= (p.Phe355=) c.2892C= (p.Phe964=) c.2319C= (p.Phe773=) c.2244C= (p.Phe748=) c.921C= (p.Phe307=) | |
3 | g.38894851G>T | CA352174971 | SCN11A | c.2517C>A (p.Phe839Leu) c.2337C>A (p.Phe779Leu) c.2561C>A (n.2561C>A) c.2136C>A (p.Phe712Leu) c.1854C>A (p.Phe618Leu) c.1065C>A (p.Phe355Leu) c.2892C>A (p.Phe964Leu) c.2319C>A (p.Phe773Leu) c.2244C>A (p.Phe748Leu) c.921C>A (p.Phe307Leu) | |
3 | g.38894852A= | CA1358718259 | SCN11A | c.2516T= (p.Phe839=) c.2336T= (p.Phe779=) c.2560T= (n.2560T=) c.2135T= (p.Phe712=) c.1853T= (p.Phe618=) c.1064T= (p.Phe355=) c.2891T= (p.Phe964=) c.2318T= (p.Phe773=) c.2243T= (p.Phe748=) c.920T= (p.Phe307=) | |
3 | g.38894852A>C | CA352174973 | SCN11A | c.2516T>G (p.Phe839Cys) c.2336T>G (p.Phe779Cys) c.2560T>G (n.2560T>G) c.2135T>G (p.Phe712Cys) c.1853T>G (p.Phe618Cys) c.1064T>G (p.Phe355Cys) c.2891T>G (p.Phe964Cys) c.2318T>G (p.Phe773Cys) c.2243T>G (p.Phe748Cys) c.920T>G (p.Phe307Cys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38894852A>G | CA352174974 | SCN11A | c.2516T>C (p.Phe839Ser) c.2336T>C (p.Phe779Ser) c.2560T>C (n.2560T>C) c.2135T>C (p.Phe712Ser) c.1853T>C (p.Phe618Ser) c.1064T>C (p.Phe355Ser) c.2891T>C (p.Phe964Ser) c.2318T>C (p.Phe773Ser) c.2243T>C (p.Phe748Ser) c.920T>C (p.Phe307Ser) | gnomAD v4 |
3 | g.38894852A>T | CA352174975 | SCN11A | c.2516T>A (p.Phe839Tyr) c.2336T>A (p.Phe779Tyr) c.2560T>A (n.2560T>A) c.2135T>A (p.Phe712Tyr) c.1853T>A (p.Phe618Tyr) c.1064T>A (p.Phe355Tyr) c.2891T>A (p.Phe964Tyr) c.2318T>A (p.Phe773Tyr) c.2243T>A (p.Phe748Tyr) c.920T>A (p.Phe307Tyr) | |
3 | g.38894853A>C | CA352174976 | SCN11A | c.2515T>G (p.Phe839Val) c.2335T>G (p.Phe779Val) c.2559T>G (n.2559T>G) c.2134T>G (p.Phe712Val) c.1852T>G (p.Phe618Val) c.1063T>G (p.Phe355Val) c.2890T>G (p.Phe964Val) c.2317T>G (p.Phe773Val) c.2242T>G (p.Phe748Val) c.919T>G (p.Phe307Val) | |
3 | g.38894853A>G | CA352174977 | SCN11A | c.2515T>C (p.Phe839Leu) c.2335T>C (p.Phe779Leu) c.2559T>C (n.2559T>C) c.2134T>C (p.Phe712Leu) c.1852T>C (p.Phe618Leu) c.1063T>C (p.Phe355Leu) c.2890T>C (p.Phe964Leu) c.2317T>C (p.Phe773Leu) c.2242T>C (p.Phe748Leu) c.919T>C (p.Phe307Leu) | |
3 | g.38894853A>T | CA352174978 | SCN11A | c.2515T>A (p.Phe839Ile) c.2335T>A (p.Phe779Ile) c.2559T>A (n.2559T>A) c.2134T>A (p.Phe712Ile) c.1852T>A (p.Phe618Ile) c.1063T>A (p.Phe355Ile) c.2890T>A (p.Phe964Ile) c.2317T>A (p.Phe773Ile) c.2242T>A (p.Phe748Ile) c.919T>A (p.Phe307Ile) | |
3 | g.38894854T>A | CA433336170 | SCN11A | c.2514A>T (p.Arg838=) c.2334A>T (p.Arg778=) c.2558A>T (n.2558A>T) c.2133A>T (p.Arg711=) c.1851A>T (p.Arg617=) c.1062A>T (p.Arg354=) c.2889A>T (p.Arg963=) c.2316A>T (p.Arg772=) c.2241A>T (p.Arg747=) c.918A>T (p.Arg306=) | gnomAD v4 |
3 | g.38894854T>C | CA433336171 | SCN11A | c.2514A>G (p.Arg838=) c.2334A>G (p.Arg778=) c.2558A>G (n.2558A>G) c.2133A>G (p.Arg711=) c.1851A>G (p.Arg617=) c.1062A>G (p.Arg354=) c.2889A>G (p.Arg963=) c.2316A>G (p.Arg772=) c.2241A>G (p.Arg747=) c.918A>G (p.Arg306=) | |
3 | g.38894854T>G | CA433336173 | SCN11A | c.2514A>C (p.Arg838=) c.2334A>C (p.Arg778=) c.2558A>C (n.2558A>C) c.2133A>C (p.Arg711=) c.1851A>C (p.Arg617=) c.1062A>C (p.Arg354=) c.2889A>C (p.Arg963=) c.2316A>C (p.Arg772=) c.2241A>C (p.Arg747=) c.918A>C (p.Arg306=) | |
3 | g.38894855C>A | CA352174979 | SCN11A | c.2513G>T (p.Arg838Leu) c.2333G>T (p.Arg778Leu) c.2557G>T (n.2557G>T) c.2132G>T (p.Arg711Leu) c.1850G>T (p.Arg617Leu) c.1061G>T (p.Arg354Leu) c.2888G>T (p.Arg963Leu) c.2315G>T (p.Arg772Leu) c.2240G>T (p.Arg747Leu) c.917G>T (p.Arg306Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894855C= | CA1358718260 | SCN11A | c.2513G= (p.Arg838=) c.2333G= (p.Arg778=) c.2557G= (n.2557G=) c.2132G= (p.Arg711=) c.1850G= (p.Arg617=) c.1061G= (p.Arg354=) c.2888G= (p.Arg963=) c.2315G= (p.Arg772=) c.2240G= (p.Arg747=) c.917G= (p.Arg306=) | |
3 | g.38894855C>G | CA352174980 | SCN11A | c.2513G>C (p.Arg838Pro) c.2333G>C (p.Arg778Pro) c.2557G>C (n.2557G>C) c.2132G>C (p.Arg711Pro) c.1850G>C (p.Arg617Pro) c.1061G>C (p.Arg354Pro) c.2888G>C (p.Arg963Pro) c.2315G>C (p.Arg772Pro) c.2240G>C (p.Arg747Pro) c.917G>C (p.Arg306Pro) | |
3 | g.38894855C>T | CA2322027 | SCN11A | c.2513G>A (p.Arg838Gln) c.2333G>A (p.Arg778Gln) c.2557G>A (n.2557G>A) c.2132G>A (p.Arg711Gln) c.1850G>A (p.Arg617Gln) c.1061G>A (p.Arg354Gln) c.2888G>A (p.Arg963Gln) c.2315G>A (p.Arg772Gln) c.2240G>A (p.Arg747Gln) c.917G>A (p.Arg306Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38894856G>A | CA2322028 | SCN11A | c.2512C>T (p.Arg838Ter) c.2332C>T (p.Arg778Ter) c.2556C>T (n.2556C>T) c.2131C>T (p.Arg711Ter) c.1849C>T (p.Arg617Ter) c.1060C>T (p.Arg354Ter) c.2887C>T (p.Arg963Ter) c.2314C>T (p.Arg772Ter) c.2239C>T (p.Arg747Ter) c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38894856G>C | CA352174981 | SCN11A | c.2512C>G (p.Arg838Gly) c.2332C>G (p.Arg778Gly) c.2556C>G (n.2556C>G) c.2131C>G (p.Arg711Gly) c.1849C>G (p.Arg617Gly) c.1060C>G (p.Arg354Gly) c.2887C>G (p.Arg963Gly) c.2314C>G (p.Arg772Gly) c.2239C>G (p.Arg747Gly) c.916C>G (p.Arg306Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38894856G= | CA1358718261 | SCN11A | c.2512C= (p.Arg838=) c.2332C= (p.Arg778=) c.2556C= (n.2556C=) c.2131C= (p.Arg711=) c.1849C= (p.Arg617=) c.1060C= (p.Arg354=) c.2887C= (p.Arg963=) c.2314C= (p.Arg772=) c.2239C= (p.Arg747=) c.916C= (p.Arg306=) | |
3 | g.38894856G>T | CA433336175 | SCN11A | c.2512C>A (p.Arg838=) c.2332C>A (p.Arg778=) c.2556C>A (n.2556C>A) c.2131C>A (p.Arg711=) c.1849C>A (p.Arg617=) c.1060C>A (p.Arg354=) c.2887C>A (p.Arg963=) c.2314C>A (p.Arg772=) c.2239C>A (p.Arg747=) c.916C>A (p.Arg306=) | gnomAD v4 |
3 | g.38894857A= | CA1358718262 | SCN11A | c.2511T= (p.Asp837=) c.2331T= (p.Asp777=) c.2555T= (n.2555T=) c.2130T= (p.Asp710=) c.1848T= (p.Asp616=) c.1059T= (p.Asp353=) c.2886T= (p.Asp962=) c.2313T= (p.Asp771=) c.2238T= (p.Asp746=) c.915T= (p.Asp305=) | |
3 | g.38894857A>C | CA352174982 | SCN11A | c.2511T>G (p.Asp837Glu) c.2331T>G (p.Asp777Glu) c.2555T>G (n.2555T>G) c.2130T>G (p.Asp710Glu) c.1848T>G (p.Asp616Glu) c.1059T>G (p.Asp353Glu) c.2886T>G (p.Asp962Glu) c.2313T>G (p.Asp771Glu) c.2238T>G (p.Asp746Glu) c.915T>G (p.Asp305Glu) | |
3 | g.38894857A>G | CA433336176 | SCN11A | c.2511T>C (p.Asp837=) c.2331T>C (p.Asp777=) c.2555T>C (n.2555T>C) c.2130T>C (p.Asp710=) c.1848T>C (p.Asp616=) c.1059T>C (p.Asp353=) c.2886T>C (p.Asp962=) c.2313T>C (p.Asp771=) c.2238T>C (p.Asp746=) c.915T>C (p.Asp305=) | dbSNP |
3 | g.38894857A>T | CA352174983 | SCN11A | c.2511T>A (p.Asp837Glu) c.2331T>A (p.Asp777Glu) c.2555T>A (n.2555T>A) c.2130T>A (p.Asp710Glu) c.1848T>A (p.Asp616Glu) c.1059T>A (p.Asp353Glu) c.2886T>A (p.Asp962Glu) c.2313T>A (p.Asp771Glu) c.2238T>A (p.Asp746Glu) c.915T>A (p.Asp305Glu) | |
3 | g.38894858T>A | CA352174984 | SCN11A | c.2510A>T (p.Asp837Val) c.2330A>T (p.Asp777Val) c.2554A>T (n.2554A>T) c.2129A>T (p.Asp710Val) c.1847A>T (p.Asp616Val) c.1058A>T (p.Asp353Val) c.2885A>T (p.Asp962Val) c.2312A>T (p.Asp771Val) c.2237A>T (p.Asp746Val) c.914A>T (p.Asp305Val) | |
3 | g.38894858T>C | CA352174986 | SCN11A | c.2510A>G (p.Asp837Gly) c.2330A>G (p.Asp777Gly) c.2554A>G (n.2554A>G) c.2129A>G (p.Asp710Gly) c.1847A>G (p.Asp616Gly) c.1058A>G (p.Asp353Gly) c.2885A>G (p.Asp962Gly) c.2312A>G (p.Asp771Gly) c.2237A>G (p.Asp746Gly) c.914A>G (p.Asp305Gly) | gnomAD v4 |
3 | g.38894858T>G | CA352174985 | SCN11A | c.2510A>C (p.Asp837Ala) c.2330A>C (p.Asp777Ala) c.2554A>C (n.2554A>C) c.2129A>C (p.Asp710Ala) c.1847A>C (p.Asp616Ala) c.1058A>C (p.Asp353Ala) c.2885A>C (p.Asp962Ala) c.2312A>C (p.Asp771Ala) c.2237A>C (p.Asp746Ala) c.914A>C (p.Asp305Ala) | |
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 |