Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166272692T>A | CA349074148 | SCN1A-AS1,SCN9A | c.3058A>T (p.Ile1020Phe) c.58A>T (p.Ile20Phe) c.3025A>T (p.Ile1009Phe) c.1877-194A>T n.870-4396T>A c.2671A>T (p.Ile891Phe) c.2314A>T (p.Ile772Phe) | |
2 | g.166272692T>C | CA349074149 | SCN1A-AS1,SCN9A | c.3058A>G (p.Ile1020Val) c.58A>G (p.Ile20Val) c.3025A>G (p.Ile1009Val) c.1877-194A>G n.870-4396T>C c.2671A>G (p.Ile891Val) c.2314A>G (p.Ile772Val) | |
2 | g.166272692T>G | CA349074152 | SCN1A-AS1,SCN9A | c.3058A>C (p.Ile1020Leu) c.58A>C (p.Ile20Leu) c.3025A>C (p.Ile1009Leu) c.1877-194A>C n.870-4396T>G c.2671A>C (p.Ile891Leu) c.2314A>C (p.Ile772Leu) | |
2 | g.166272693C>A | CA349074158 | SCN1A-AS1,SCN9A | c.3057G>T (p.Lys1019Asn) c.57G>T (p.Lys19Asn) c.3024G>T (p.Lys1008Asn) c.1877-195G>T n.870-4395C>A c.2670G>T (p.Lys890Asn) c.2313G>T (p.Lys771Asn) | gnomAD v4 |
2 | g.166272693C= | CA1304962818 | SCN1A-AS1,SCN9A | c.3057G= (p.Lys1019=) c.57G= (p.Lys19=) c.3024G= (p.Lys1008=) c.1877-195G= n.870-4395C= c.2670G= (p.Lys890=) c.2313G= (p.Lys771=) | |
2 | g.166272693C>G | CA349074155 | SCN1A-AS1,SCN9A | c.3057G>C (p.Lys1019Asn) c.57G>C (p.Lys19Asn) c.3024G>C (p.Lys1008Asn) c.1877-195G>C n.870-4395C>G c.2670G>C (p.Lys890Asn) c.2313G>C (p.Lys771Asn) | |
2 | g.166272693C>T | CA59791637 | SCN1A-AS1,SCN9A | c.3057G>A (p.Lys1019=) c.57G>A (p.Lys19=) c.3024G>A (p.Lys1008=) c.1877-195G>A n.870-4395C>T c.2670G>A (p.Lys890=) c.2313G>A (p.Lys771=) | ClinVar dbSNP |
2 | g.166272694T>A | CA349074160 | SCN1A-AS1,SCN9A | c.3056A>T (p.Lys1019Met) c.56A>T (p.Lys19Met) c.3023A>T (p.Lys1008Met) c.1877-196A>T n.870-4394T>A c.2669A>T (p.Lys890Met) c.2312A>T (p.Lys771Met) | |
2 | g.166272694T>C | CA1944145 | SCN1A-AS1,SCN9A | c.3056A>G (p.Lys1019Arg) c.56A>G (p.Lys19Arg) c.3023A>G (p.Lys1008Arg) c.1877-196A>G n.870-4394T>C c.2669A>G (p.Lys890Arg) c.2312A>G (p.Lys771Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272694T>G | CA349074163 | SCN1A-AS1,SCN9A | c.3056A>C (p.Lys1019Thr) c.56A>C (p.Lys19Thr) c.3023A>C (p.Lys1008Thr) c.1877-196A>C n.870-4394T>G c.2669A>C (p.Lys890Thr) c.2312A>C (p.Lys771Thr) | gnomAD v4 |
2 | g.166272694T= | CA1304962819 | SCN1A-AS1,SCN9A | c.3056A= (p.Lys1019=) c.56A= (p.Lys19=) c.3023A= (p.Lys1008=) c.1877-196A= n.870-4394T= c.2669A= (p.Lys890=) c.2312A= (p.Lys771=) | |
2 | g.166272696del | CA2661766689 | SCN1A-AS1,SCN9A | c.3056del (p.Lys1019ArgfsTer6) c.56del (p.Lys19ArgfsTer6) c.3023del (p.Lys1008ArgfsTer6) c.1877-196del n.870-4392del c.2669del (p.Lys890ArgfsTer6) c.2312del (p.Lys771ArgfsTer6) | gnomAD v4 |
2 | g.166272695T>A | CA349074168 | SCN1A-AS1,SCN9A | c.3055A>T (p.Lys1019Ter) c.55A>T (p.Lys19Ter) c.3022A>T (p.Lys1008Ter) c.1877-197A>T n.870-4393T>A c.2668A>T (p.Lys890Ter) c.2311A>T (p.Lys771Ter) | dbSNP |
2 | g.166272695T>C | CA349074171 | SCN1A-AS1,SCN9A | c.3055A>G (p.Lys1019Glu) c.55A>G (p.Lys19Glu) c.3022A>G (p.Lys1008Glu) c.1877-197A>G n.870-4393T>C c.2668A>G (p.Lys890Glu) c.2311A>G (p.Lys771Glu) | gnomAD v4 |
2 | g.166272695T>G | CA349074173 | SCN1A-AS1,SCN9A | c.3055A>C (p.Lys1019Gln) c.55A>C (p.Lys19Gln) c.3022A>C (p.Lys1008Gln) c.1877-197A>C n.870-4393T>G c.2668A>C (p.Lys890Gln) c.2311A>C (p.Lys771Gln) | |
2 | g.166272695T= | CA1304962820 | SCN1A-AS1,SCN9A | c.3055A= (p.Lys1019=) c.55A= (p.Lys19=) c.3022A= (p.Lys1008=) c.1877-197A= n.870-4393T= c.2668A= (p.Lys890=) c.2311A= (p.Lys771=) | |
2 | g.166272696T>A | CA429977947 | SCN1A-AS1,SCN9A | c.3054A>T (p.Pro1018=) c.54A>T (p.Pro18=) c.3021A>T (p.Pro1007=) c.1877-198A>T n.870-4392T>A c.2667A>T (p.Pro889=) c.2310A>T (p.Pro770=) | |
2 | g.166272696T>C | CA429977946 | SCN1A-AS1,SCN9A | c.3054A>G (p.Pro1018=) c.54A>G (p.Pro18=) c.3021A>G (p.Pro1007=) c.1877-198A>G n.870-4392T>C c.2667A>G (p.Pro889=) c.2310A>G (p.Pro770=) | dbSNP gnomAD v4 |
2 | g.166272696T>G | CA429977944 | SCN1A-AS1,SCN9A | c.3054A>C (p.Pro1018=) c.54A>C (p.Pro18=) c.3021A>C (p.Pro1007=) c.1877-198A>C n.870-4392T>G c.2667A>C (p.Pro889=) c.2310A>C (p.Pro770=) | |
2 | g.166272696T= | CA1304962821 | SCN1A-AS1,SCN9A | c.3054A= (p.Pro1018=) c.54A= (p.Pro18=) c.3021A= (p.Pro1007=) c.1877-198A= n.870-4392T= c.2667A= (p.Pro889=) c.2310A= (p.Pro770=) | |
2 | g.166272697G>A | CA349074176 | SCN1A-AS1,SCN9A | c.3053C>T (p.Pro1018Leu) c.53C>T (p.Pro18Leu) c.3020C>T (p.Pro1007Leu) c.1877-199C>T n.870-4391G>A c.2666C>T (p.Pro889Leu) c.2309C>T (p.Pro770Leu) | gnomAD v4 |
2 | g.166272697G>C | CA349074185 | SCN1A-AS1,SCN9A | c.3053C>G (p.Pro1018Arg) c.53C>G (p.Pro18Arg) c.3020C>G (p.Pro1007Arg) c.1877-199C>G n.870-4391G>C c.2666C>G (p.Pro889Arg) c.2309C>G (p.Pro770Arg) | |
2 | g.166272697G>T | CA349074189 | SCN1A-AS1,SCN9A | c.3053C>A (p.Pro1018Gln) c.53C>A (p.Pro18Gln) c.3020C>A (p.Pro1007Gln) c.1877-199C>A n.870-4391G>T c.2666C>A (p.Pro889Gln) c.2309C>A (p.Pro770Gln) | |
2 | g.166272698del | CA2661766690 | SCN1A-AS1,SCN9A | c.3053del (p.Pro1018GlnfsTer7) c.53del (p.Pro18GlnfsTer7) c.3020del (p.Pro1007GlnfsTer7) c.1877-199del n.870-4390del c.2666del (p.Pro889GlnfsTer7) c.2309del (p.Pro770GlnfsTer7) | gnomAD v4 |
2 | g.166272698G>A | CA349074194 | SCN1A-AS1,SCN9A | c.3052C>T (p.Pro1018Ser) c.52C>T (p.Pro18Ser) c.3019C>T (p.Pro1007Ser) c.1877-200C>T n.870-4390G>A c.2665C>T (p.Pro889Ser) c.2308C>T (p.Pro770Ser) | |
2 | g.166272698G>C | CA349074196 | SCN1A-AS1,SCN9A | c.3052C>G (p.Pro1018Ala) c.52C>G (p.Pro18Ala) c.3019C>G (p.Pro1007Ala) c.1877-200C>G n.870-4390G>C c.2665C>G (p.Pro889Ala) c.2308C>G (p.Pro770Ala) | |
2 | g.166272698G>T | CA349074198 | SCN1A-AS1,SCN9A | c.3052C>A (p.Pro1018Thr) c.52C>A (p.Pro18Thr) c.3019C>A (p.Pro1007Thr) c.1877-200C>A n.870-4390G>T c.2665C>A (p.Pro889Thr) c.2308C>A (p.Pro770Thr) | |
2 | g.166272699C>A | CA349074200 | SCN1A-AS1,SCN9A | c.3051G>T (p.Lys1017Asn) c.51G>T (p.Lys17Asn) c.3018G>T (p.Lys1006Asn) c.1877-201G>T n.870-4389C>A c.2664G>T (p.Lys888Asn) c.2307G>T (p.Lys769Asn) | |
2 | g.166272699C= | CA1304962822 | SCN1A-AS1,SCN9A | c.3051G= (p.Lys1017=) c.51G= (p.Lys17=) c.3018G= (p.Lys1006=) c.1877-201G= n.870-4389C= c.2664G= (p.Lys888=) c.2307G= (p.Lys769=) | |
2 | g.166272699C>G | CA1944146 | SCN1A-AS1,SCN9A | c.3051G>C (p.Lys1017Asn) c.51G>C (p.Lys17Asn) c.3018G>C (p.Lys1006Asn) c.1877-201G>C n.870-4389C>G c.2664G>C (p.Lys888Asn) c.2307G>C (p.Lys769Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272699C>T | CA429977948 | SCN1A-AS1,SCN9A | c.3051G>A (p.Lys1017=) c.51G>A (p.Lys17=) c.3018G>A (p.Lys1006=) c.1877-201G>A n.870-4389C>T c.2664G>A (p.Lys888=) c.2307G>A (p.Lys769=) | gnomAD v4 |
2 | g.166272700T>A | CA349074211 | SCN1A-AS1,SCN9A | c.3050A>T (p.Lys1017Met) c.50A>T (p.Lys17Met) c.3017A>T (p.Lys1006Met) c.1877-202A>T n.870-4388T>A c.2663A>T (p.Lys888Met) c.2306A>T (p.Lys769Met) | gnomAD v4 |
2 | g.166272700T>C | CA349074208 | SCN1A-AS1,SCN9A | c.3050A>G (p.Lys1017Arg) c.50A>G (p.Lys17Arg) c.3017A>G (p.Lys1006Arg) c.1877-202A>G n.870-4388T>C c.2663A>G (p.Lys888Arg) c.2306A>G (p.Lys769Arg) | |
2 | g.166272700T>G | CA349074206 | SCN1A-AS1,SCN9A | c.3050A>C (p.Lys1017Thr) c.50A>C (p.Lys17Thr) c.3017A>C (p.Lys1006Thr) c.1877-202A>C n.870-4388T>G c.2663A>C (p.Lys888Thr) c.2306A>C (p.Lys769Thr) | gnomAD v4 |
2 | g.166272701T>A | CA349074213 | SCN1A-AS1,SCN9A | c.3049A>T (p.Lys1017Ter) c.49A>T (p.Lys17Ter) c.3016A>T (p.Lys1006Ter) c.1877-203A>T n.870-4387T>A c.2662A>T (p.Lys888Ter) c.2305A>T (p.Lys769Ter) | |
2 | g.166272701T>C | CA349074217 | SCN1A-AS1,SCN9A | c.3049A>G (p.Lys1017Glu) c.49A>G (p.Lys17Glu) c.3016A>G (p.Lys1006Glu) c.1877-203A>G n.870-4387T>C c.2662A>G (p.Lys888Glu) c.2305A>G (p.Lys769Glu) | |
2 | g.166272701T>G | CA349074220 | SCN1A-AS1,SCN9A | c.3049A>C (p.Lys1017Gln) c.49A>C (p.Lys17Gln) c.3016A>C (p.Lys1006Gln) c.1877-203A>C n.870-4387T>G c.2662A>C (p.Lys888Gln) c.2305A>C (p.Lys769Gln) | |
2 | g.166272702T>A | CA349074224 | SCN1A-AS1,SCN9A | c.3048A>T (p.Lys1016Asn) c.48A>T (p.Lys16Asn) c.3015A>T (p.Lys1005Asn) c.1877-204A>T n.870-4386T>A c.2661A>T (p.Lys887Asn) c.2304A>T (p.Lys768Asn) | |
2 | g.166272702T>C | CA429977956 | SCN1A-AS1,SCN9A | c.3048A>G (p.Lys1016=) c.48A>G (p.Lys16=) c.3015A>G (p.Lys1005=) c.1877-204A>G n.870-4386T>C c.2661A>G (p.Lys887=) c.2304A>G (p.Lys768=) | |
2 | g.166272702T>G | CA349074228 | SCN1A-AS1,SCN9A | c.3048A>C (p.Lys1016Asn) c.48A>C (p.Lys16Asn) c.3015A>C (p.Lys1005Asn) c.1877-204A>C n.870-4386T>G c.2661A>C (p.Lys887Asn) c.2304A>C (p.Lys768Asn) | |
2 | g.166272703T>A | CA349074231 | SCN1A-AS1,SCN9A | c.3047A>T (p.Lys1016Ile) c.47A>T (p.Lys16Ile) c.3014A>T (p.Lys1005Ile) c.1877-205A>T n.870-4385T>A c.2660A>T (p.Lys887Ile) c.2303A>T (p.Lys768Ile) | |
2 | g.166272703T>C | CA349074234 | SCN1A-AS1,SCN9A | c.3047A>G (p.Lys1016Arg) c.47A>G (p.Lys16Arg) c.3014A>G (p.Lys1005Arg) c.1877-205A>G n.870-4385T>C c.2660A>G (p.Lys887Arg) c.2303A>G (p.Lys768Arg) | |
2 | g.166272703T>G | CA1944147 | SCN1A-AS1,SCN9A | c.3047A>C (p.Lys1016Thr) c.47A>C (p.Lys16Thr) c.3014A>C (p.Lys1005Thr) c.1877-205A>C n.870-4385T>G c.2660A>C (p.Lys887Thr) c.2303A>C (p.Lys768Thr) | dbSNP ExAC gnomAD v4 |
2 | g.166272703T= | CA1304962823 | SCN1A-AS1,SCN9A | c.3047A= (p.Lys1016=) c.47A= (p.Lys16=) c.3014A= (p.Lys1005=) c.1877-205A= n.870-4385T= c.2660A= (p.Lys887=) c.2303A= (p.Lys768=) | |
2 | g.166272704T>A | CA349074238 | SCN1A-AS1,SCN9A | c.3046A>T (p.Lys1016Ter) c.46A>T (p.Lys16Ter) c.3013A>T (p.Lys1005Ter) c.1877-206A>T n.870-4384T>A c.2659A>T (p.Lys887Ter) c.2302A>T (p.Lys768Ter) | dbSNP |
2 | g.166272704T>C | CA349074240 | SCN1A-AS1,SCN9A | c.3046A>G (p.Lys1016Glu) c.46A>G (p.Lys16Glu) c.3013A>G (p.Lys1005Glu) c.1877-206A>G n.870-4384T>C c.2659A>G (p.Lys887Glu) c.2302A>G (p.Lys768Glu) | gnomAD v4 |
2 | g.166272704T>G | CA349074242 | SCN1A-AS1,SCN9A | c.3046A>C (p.Lys1016Gln) c.46A>C (p.Lys16Gln) c.3013A>C (p.Lys1005Gln) c.1877-206A>C n.870-4384T>G c.2659A>C (p.Lys887Gln) c.2302A>C (p.Lys768Gln) | |
2 | g.166272704T= | CA1304962824 | SCN1A-AS1,SCN9A | c.3046A= (p.Lys1016=) c.46A= (p.Lys16=) c.3013A= (p.Lys1005=) c.1877-206A= n.870-4384T= c.2659A= (p.Lys887=) c.2302A= (p.Lys768=) | |
2 | g.166272705G>A | CA59791662 | SCN1A-AS1,SCN9A | c.3045C>T (p.Ser1015=) c.45C>T (p.Ser15=) c.3012C>T (p.Ser1004=) c.1877-207C>T n.870-4383G>A c.2658C>T (p.Ser886=) c.2301C>T (p.Ser767=) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166272705G>C | CA429977961 | SCN1A-AS1,SCN9A | c.3045C>G (p.Ser1015=) c.45C>G (p.Ser15=) c.3012C>G (p.Ser1004=) c.1877-207C>G n.870-4383G>C c.2658C>G (p.Ser886=) c.2301C>G (p.Ser767=) | |
2 | g.166272705G= | CA1304962825 | SCN1A-AS1,SCN9A | c.3045C= (p.Ser1015=) c.45C= (p.Ser15=) c.3012C= (p.Ser1004=) c.1877-207C= n.870-4383G= c.2658C= (p.Ser886=) c.2301C= (p.Ser767=) | |
2 | g.166272705G>T | CA429977962 | SCN1A-AS1,SCN9A | c.3045C>A (p.Ser1015=) c.45C>A (p.Ser15=) c.3012C>A (p.Ser1004=) c.1877-207C>A n.870-4383G>T c.2658C>A (p.Ser886=) c.2301C>A (p.Ser767=) | |
2 | g.166272706G>A | CA1944149 | SCN1A-AS1,SCN9A | c.3044C>T (p.Ser1015Phe) c.44C>T (p.Ser15Phe) c.3011C>T (p.Ser1004Phe) c.1877-208C>T n.870-4382G>A c.2657C>T (p.Ser886Phe) c.2300C>T (p.Ser767Phe) | dbSNP ExAC gnomAD v2 |
2 | g.166272706G>C | CA1944148 | SCN1A-AS1,SCN9A | c.3044C>G (p.Ser1015Cys) c.44C>G (p.Ser15Cys) c.3011C>G (p.Ser1004Cys) c.1877-208C>G n.870-4382G>C c.2657C>G (p.Ser886Cys) c.2300C>G (p.Ser767Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272706G= | CA1304962826 | SCN1A-AS1,SCN9A | c.3044C= (p.Ser1015=) c.44C= (p.Ser15=) c.3011C= (p.Ser1004=) c.1877-208C= n.870-4382G= c.2657C= (p.Ser886=) c.2300C= (p.Ser767=) | |
2 | g.166272706G>T | CA349074251 | SCN1A-AS1,SCN9A | c.3044C>A (p.Ser1015Tyr) c.44C>A (p.Ser15Tyr) c.3011C>A (p.Ser1004Tyr) c.1877-208C>A n.870-4382G>T c.2657C>A (p.Ser886Tyr) c.2300C>A (p.Ser767Tyr) | gnomAD v4 |
2 | g.166272707A>C | CA349074257 | SCN1A-AS1,SCN9A | c.3043T>G (p.Ser1015Ala) c.43T>G (p.Ser15Ala) c.3010T>G (p.Ser1004Ala) c.1877-209T>G n.870-4381A>C c.2656T>G (p.Ser886Ala) c.2299T>G (p.Ser767Ala) | |
2 | g.166272707A>G | CA349074259 | SCN1A-AS1,SCN9A | c.3043T>C (p.Ser1015Pro) c.43T>C (p.Ser15Pro) c.3010T>C (p.Ser1004Pro) c.1877-209T>C n.870-4381A>G c.2656T>C (p.Ser886Pro) c.2299T>C (p.Ser767Pro) | ClinVar |
2 | g.166272707A>T | CA349074261 | SCN1A-AS1,SCN9A | c.3043T>A (p.Ser1015Thr) c.43T>A (p.Ser15Thr) c.3010T>A (p.Ser1004Thr) c.1877-209T>A n.870-4381A>T c.2656T>A (p.Ser886Thr) c.2299T>A (p.Ser767Thr) | |
2 | g.166272710del | CA2552926038 | SCN1A-AS1,SCN9A | c.3043del (p.Ser1015ProfsTer10) c.43del (p.Ser15ProfsTer10) c.3010del (p.Ser1004ProfsTer10) c.1877-209del n.870-4378del c.2656del (p.Ser886ProfsTer10) c.2299del (p.Ser767ProfsTer10) | gnomAD v4 |
2 | g.166272708A>C | CA349074264 | SCN1A-AS1,SCN9A | c.3042T>G (p.Phe1014Leu) c.42T>G (p.Phe14Leu) c.3009T>G (p.Phe1003Leu) c.1877-210T>G n.870-4380A>C c.2655T>G (p.Phe885Leu) c.2298T>G (p.Phe766Leu) | |
2 | g.166272708A>G | CA429977967 | SCN1A-AS1,SCN9A | c.3042T>C (p.Phe1014=) c.42T>C (p.Phe14=) c.3009T>C (p.Phe1003=) c.1877-210T>C n.870-4380A>G c.2655T>C (p.Phe885=) c.2298T>C (p.Phe766=) | |
2 | g.166272708A>T | CA349074265 | SCN1A-AS1,SCN9A | c.3042T>A (p.Phe1014Leu) c.42T>A (p.Phe14Leu) c.3009T>A (p.Phe1003Leu) c.1877-210T>A n.870-4380A>T c.2655T>A (p.Phe885Leu) c.2298T>A (p.Phe766Leu) | |
2 | g.166272709A>C | CA349074269 | SCN1A-AS1,SCN9A | c.3041T>G (p.Phe1014Cys) c.41T>G (p.Phe14Cys) c.3008T>G (p.Phe1003Cys) c.1877-211T>G n.870-4379A>C c.2654T>G (p.Phe885Cys) c.2297T>G (p.Phe766Cys) | |
2 | g.166272709A>G | CA349074272 | SCN1A-AS1,SCN9A | c.3041T>C (p.Phe1014Ser) c.41T>C (p.Phe14Ser) c.3008T>C (p.Phe1003Ser) c.1877-211T>C n.870-4379A>G c.2654T>C (p.Phe885Ser) c.2297T>C (p.Phe766Ser) | gnomAD v4 |
2 | g.166272709A>T | CA349074275 | SCN1A-AS1,SCN9A | c.3041T>A (p.Phe1014Tyr) c.41T>A (p.Phe14Tyr) c.3008T>A (p.Phe1003Tyr) c.1877-211T>A n.870-4379A>T c.2654T>A (p.Phe885Tyr) c.2297T>A (p.Phe766Tyr) | |
2 | g.166272710A= | CA1304962827 | SCN1A-AS1,SCN9A | c.3040T= (p.Phe1014=) c.40T= (p.Phe14=) c.3007T= (p.Phe1003=) c.1877-212T= n.870-4378A= c.2653T= (p.Phe885=) c.2296T= (p.Phe766=) | |
2 | g.166272710A>C | CA349074279 | SCN1A-AS1,SCN9A | c.3040T>G (p.Phe1014Val) c.40T>G (p.Phe14Val) c.3007T>G (p.Phe1003Val) c.1877-212T>G n.870-4378A>C c.2653T>G (p.Phe885Val) c.2296T>G (p.Phe766Val) | |
2 | g.166272710A>G | CA349074283 | SCN1A-AS1,SCN9A | c.3040T>C (p.Phe1014Leu) c.40T>C (p.Phe14Leu) c.3007T>C (p.Phe1003Leu) c.1877-212T>C n.870-4378A>G c.2653T>C (p.Phe885Leu) c.2296T>C (p.Phe766Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272710A>T | CA349074286 | SCN1A-AS1,SCN9A | c.3040T>A (p.Phe1014Ile) c.40T>A (p.Phe14Ile) c.3007T>A (p.Phe1003Ile) c.1877-212T>A n.870-4378A>T c.2653T>A (p.Phe885Ile) c.2296T>A (p.Phe766Ile) | |
2 | g.166272711T>A | CA429977970 | SCN1A-AS1,SCN9A | c.3039A>T (p.Ala1013=) c.39A>T (p.Ala13=) c.3006A>T (p.Ala1002=) c.1877-213A>T n.870-4377T>A c.2652A>T (p.Ala884=) c.2295A>T (p.Ala765=) | |
2 | g.166272711T>C | CA59791702 | SCN1A-AS1,SCN9A | c.3039A>G (p.Ala1013=) c.39A>G (p.Ala13=) c.3006A>G (p.Ala1002=) c.1877-213A>G n.870-4377T>C c.2652A>G (p.Ala884=) c.2295A>G (p.Ala765=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272711T>G | CA429977976 | SCN1A-AS1,SCN9A | c.3039A>C (p.Ala1013=) c.39A>C (p.Ala13=) c.3006A>C (p.Ala1002=) c.1877-213A>C n.870-4377T>G c.2652A>C (p.Ala884=) c.2295A>C (p.Ala765=) | |
2 | g.166272711T= | CA1304962828 | SCN1A-AS1,SCN9A | c.3039A= (p.Ala1013=) c.39A= (p.Ala13=) c.3006A= (p.Ala1002=) c.1877-213A= n.870-4377T= c.2652A= (p.Ala884=) c.2295A= (p.Ala765=) | |
2 | g.166272712G>A | CA59791708 | SCN1A-AS1,SCN9A | c.3038C>T (p.Ala1013Val) c.38C>T (p.Ala13Val) c.3005C>T (p.Ala1002Val) c.1877-214C>T n.870-4376G>A c.2651C>T (p.Ala884Val) c.2294C>T (p.Ala765Val) | ClinVar dbSNP |
2 | g.166272712G>C | CA349074298 | SCN1A-AS1,SCN9A | c.3038C>G (p.Ala1013Gly) c.38C>G (p.Ala13Gly) c.3005C>G (p.Ala1002Gly) c.1877-214C>G n.870-4376G>C c.2651C>G (p.Ala884Gly) c.2294C>G (p.Ala765Gly) | dbSNP |
2 | g.166272712G= | CA1304962829 | SCN1A-AS1,SCN9A | c.3038C= (p.Ala1013=) c.38C= (p.Ala13=) c.3005C= (p.Ala1002=) c.1877-214C= n.870-4376G= c.2651C= (p.Ala884=) c.2294C= (p.Ala765=) | |
2 | g.166272712G>T | CA59791707 | SCN1A-AS1,SCN9A | c.3038C>A (p.Ala1013Glu) c.38C>A (p.Ala13Glu) c.3005C>A (p.Ala1002Glu) c.1877-214C>A n.870-4376G>T c.2651C>A (p.Ala884Glu) c.2294C>A (p.Ala765Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272713C>A | CA349074303 | SCN1A-AS1,SCN9A | c.3037G>T (p.Ala1013Ser) c.37G>T (p.Ala13Ser) c.3004G>T (p.Ala1002Ser) c.1877-215G>T n.870-4375C>A c.2650G>T (p.Ala884Ser) c.2293G>T (p.Ala765Ser) | |
2 | g.166272713C>G | CA349074307 | SCN1A-AS1,SCN9A | c.3037G>C (p.Ala1013Pro) c.37G>C (p.Ala13Pro) c.3004G>C (p.Ala1002Pro) c.1877-215G>C n.870-4375C>G c.2650G>C (p.Ala884Pro) c.2293G>C (p.Ala765Pro) | |
2 | g.166272713C>T | CA349074310 | SCN1A-AS1,SCN9A | c.3037G>A (p.Ala1013Thr) c.37G>A (p.Ala13Thr) c.3004G>A (p.Ala1002Thr) c.1877-215G>A n.870-4375C>T c.2650G>A (p.Ala884Thr) c.2293G>A (p.Ala765Thr) | gnomAD v4 |
2 | g.166272714T>A | CA349074315 | SCN1A-AS1,SCN9A | c.3036A>T (p.Lys1012Asn) c.36A>T (p.Lys12Asn) c.3003A>T (p.Lys1001Asn) c.1877-216A>T n.870-4374T>A c.2649A>T (p.Lys883Asn) c.2292A>T (p.Lys764Asn) | |
2 | g.166272714T>C | CA1944150 | SCN1A-AS1,SCN9A | c.3036A>G (p.Lys1012=) c.36A>G (p.Lys12=) c.3003A>G (p.Lys1001=) c.1877-216A>G n.870-4374T>C c.2649A>G (p.Lys883=) c.2292A>G (p.Lys764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272714T>G | CA349074318 | SCN1A-AS1,SCN9A | c.3036A>C (p.Lys1012Asn) c.36A>C (p.Lys12Asn) c.3003A>C (p.Lys1001Asn) c.1877-216A>C n.870-4374T>G c.2649A>C (p.Lys883Asn) c.2292A>C (p.Lys764Asn) | |
2 | g.166272714T= | CA1304962830 | SCN1A-AS1,SCN9A | c.3036A= (p.Lys1012=) c.36A= (p.Lys12=) c.3003A= (p.Lys1001=) c.1877-216A= n.870-4374T= c.2649A= (p.Lys883=) c.2292A= (p.Lys764=) | |
2 | g.166272715T>A | CA349074321 | SCN1A-AS1,SCN9A | c.3035A>T (p.Lys1012Ile) c.35A>T (p.Lys12Ile) c.3002A>T (p.Lys1001Ile) c.1877-217A>T n.870-4373T>A c.2648A>T (p.Lys883Ile) c.2291A>T (p.Lys764Ile) | |
2 | g.166272715T>C | CA349074326 | SCN1A-AS1,SCN9A | c.3035A>G (p.Lys1012Arg) c.35A>G (p.Lys12Arg) c.3002A>G (p.Lys1001Arg) c.1877-217A>G n.870-4373T>C c.2648A>G (p.Lys883Arg) c.2291A>G (p.Lys764Arg) | |
2 | g.166272715T>G | CA349074323 | SCN1A-AS1,SCN9A | c.3035A>C (p.Lys1012Thr) c.35A>C (p.Lys12Thr) c.3002A>C (p.Lys1001Thr) c.1877-217A>C n.870-4373T>G c.2648A>C (p.Lys883Thr) c.2291A>C (p.Lys764Thr) | gnomAD v4 |
2 | g.166272716T>A | CA349074328 | SCN1A-AS1,SCN9A | c.3034A>T (p.Lys1012Ter) c.34A>T (p.Lys12Ter) c.3001A>T (p.Lys1001Ter) c.1877-218A>T n.870-4372T>A c.2647A>T (p.Lys883Ter) c.2290A>T (p.Lys764Ter) | dbSNP |
2 | g.166272716T>C | CA349074329 | SCN1A-AS1,SCN9A | c.3034A>G (p.Lys1012Glu) c.34A>G (p.Lys12Glu) c.3001A>G (p.Lys1001Glu) c.1877-218A>G n.870-4372T>C c.2647A>G (p.Lys883Glu) c.2290A>G (p.Lys764Glu) | |
2 | g.166272716T>G | CA349074332 | SCN1A-AS1,SCN9A | c.3034A>C (p.Lys1012Gln) c.34A>C (p.Lys12Gln) c.3001A>C (p.Lys1001Gln) c.1877-218A>C n.870-4372T>G c.2647A>C (p.Lys883Gln) c.2290A>C (p.Lys764Gln) | |
2 | g.166272716T= | CA1304962831 | SCN1A-AS1,SCN9A | c.3034A= (p.Lys1012=) c.34A= (p.Lys12=) c.3001A= (p.Lys1001=) c.1877-218A= n.870-4372T= c.2647A= (p.Lys883=) c.2290A= (p.Lys764=) | |
2 | g.166272717T>A | CA429977980 | SCN1A-AS1,SCN9A | c.3033A>T (p.Leu1011=) c.33A>T (p.Leu11=) c.3000A>T (p.Leu1000=) c.1877-219A>T n.870-4371T>A c.2646A>T (p.Leu882=) c.2289A>T (p.Leu763=) | |
2 | g.166272717T>C | CA59791709 | SCN1A-AS1,SCN9A | c.3033A>G (p.Leu1011=) c.33A>G (p.Leu11=) c.3000A>G (p.Leu1000=) c.1877-219A>G n.870-4371T>C c.2646A>G (p.Leu882=) c.2289A>G (p.Leu763=) | dbSNP gnomAD v4 |
2 | g.166272717T>G | CA429977981 | SCN1A-AS1,SCN9A | c.3033A>C (p.Leu1011=) c.33A>C (p.Leu11=) c.3000A>C (p.Leu1000=) c.1877-219A>C n.870-4371T>G c.2646A>C (p.Leu882=) c.2289A>C (p.Leu763=) | |
2 | g.166272717T= | CA1304962832 | SCN1A-AS1,SCN9A | c.3033A= (p.Leu1011=) c.33A= (p.Leu11=) c.3000A= (p.Leu1000=) c.1877-219A= n.870-4371T= c.2646A= (p.Leu882=) c.2289A= (p.Leu763=) | |
2 | g.166272718A= | CA1304962833 | SCN1A-AS1,SCN9A | c.3032T= (p.Leu1011=) c.32T= (p.Leu11=) c.2999T= (p.Leu1000=) c.1877-220T= n.870-4370A= c.2645T= (p.Leu882=) c.2288T= (p.Leu763=) | |
2 | g.166272718A>C | CA349074337 | SCN1A-AS1,SCN9A | c.3032T>G (p.Leu1011Arg) c.32T>G (p.Leu11Arg) c.2999T>G (p.Leu1000Arg) c.1877-220T>G n.870-4370A>C c.2645T>G (p.Leu882Arg) c.2288T>G (p.Leu763Arg) | |
2 | g.166272718A>G | CA59791717 | SCN1A-AS1,SCN9A | c.3032T>C (p.Leu1011Pro) c.32T>C (p.Leu11Pro) c.2999T>C (p.Leu1000Pro) c.1877-220T>C n.870-4370A>G c.2645T>C (p.Leu882Pro) c.2288T>C (p.Leu763Pro) | ClinVar dbSNP |
2 | g.166272718A>T | CA349074341 | SCN1A-AS1,SCN9A | c.3032T>A (p.Leu1011Gln) c.32T>A (p.Leu11Gln) c.2999T>A (p.Leu1000Gln) c.1877-220T>A n.870-4370A>T c.2645T>A (p.Leu882Gln) c.2288T>A (p.Leu763Gln) | |
2 | g.166272719G>A | CA429977982 | SCN1A-AS1,SCN9A | c.3031C>T (p.Leu1011=) c.31C>T (p.Leu11=) c.2998C>T (p.Leu1000=) c.1877-221C>T n.870-4369G>A c.2644C>T (p.Leu882=) c.2287C>T (p.Leu763=) | gnomAD v4 |
2 | g.166272719G>C | CA1944151 | SCN1A-AS1,SCN9A | c.3031C>G (p.Leu1011Val) c.31C>G (p.Leu11Val) c.2998C>G (p.Leu1000Val) c.1877-221C>G n.870-4369G>C c.2644C>G (p.Leu882Val) c.2287C>G (p.Leu763Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272719G= | CA1304962834 | SCN1A-AS1,SCN9A | c.3031C= (p.Leu1011=) c.31C= (p.Leu11=) c.2998C= (p.Leu1000=) c.1877-221C= n.870-4369G= c.2644C= (p.Leu882=) c.2287C= (p.Leu763=) | |
2 | g.166272719G>T | CA349074358 | SCN1A-AS1,SCN9A | c.3031C>A (p.Leu1011Ile) c.31C>A (p.Leu11Ile) c.2998C>A (p.Leu1000Ile) c.1877-221C>A n.870-4369G>T c.2644C>A (p.Leu882Ile) c.2287C>A (p.Leu763Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166272720A>C | CA349074363 | SCN1A-AS1,SCN9A | c.3030T>G (p.Ile1010Met) c.30T>G (p.Ile10Met) c.2997T>G (p.Ile999Met) c.1877-222T>G n.870-4368A>C c.2643T>G (p.Ile881Met) c.2286T>G (p.Ile762Met) | |
2 | g.166272720A>G | CA429977985 | SCN1A-AS1,SCN9A | c.3030T>C (p.Ile1010=) c.30T>C (p.Ile10=) c.2997T>C (p.Ile999=) c.1877-222T>C n.870-4368A>G c.2643T>C (p.Ile881=) c.2286T>C (p.Ile762=) | |
2 | g.166272720A>T | CA429977984 | SCN1A-AS1,SCN9A | c.3030T>A (p.Ile1010=) c.30T>A (p.Ile10=) c.2997T>A (p.Ile999=) c.1877-222T>A n.870-4368A>T c.2643T>A (p.Ile881=) c.2286T>A (p.Ile762=) | |
2 | g.166272721A>C | CA349074366 | SCN1A-AS1,SCN9A | c.3029T>G (p.Ile1010Ser) c.29T>G (p.Ile10Ser) c.2996T>G (p.Ile999Ser) c.1877-223T>G n.870-4367A>C c.2642T>G (p.Ile881Ser) c.2285T>G (p.Ile762Ser) | |
2 | g.166272721A>G | CA349074368 | SCN1A-AS1,SCN9A | c.3029T>C (p.Ile1010Thr) c.29T>C (p.Ile10Thr) c.2996T>C (p.Ile999Thr) c.1877-223T>C n.870-4367A>G c.2642T>C (p.Ile881Thr) c.2285T>C (p.Ile762Thr) | |
2 | g.166272721A>T | CA349074371 | SCN1A-AS1,SCN9A | c.3029T>A (p.Ile1010Asn) c.29T>A (p.Ile10Asn) c.2996T>A (p.Ile999Asn) c.1877-223T>A n.870-4367A>T c.2642T>A (p.Ile881Asn) c.2285T>A (p.Ile762Asn) | |
2 | g.166272722T>A | CA349074376 | SCN1A-AS1,SCN9A | c.3028A>T (p.Ile1010Phe) c.28A>T (p.Ile10Phe) c.2995A>T (p.Ile999Phe) c.1877-224A>T n.870-4366T>A c.2641A>T (p.Ile881Phe) c.2284A>T (p.Ile762Phe) | |
2 | g.166272722T>C | CA1944152 | SCN1A-AS1,SCN9A | c.3028A>G (p.Ile1010Val) c.28A>G (p.Ile10Val) c.2995A>G (p.Ile999Val) c.1877-224A>G n.870-4366T>C c.2641A>G (p.Ile881Val) c.2284A>G (p.Ile762Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272722T>G | CA349074383 | SCN1A-AS1,SCN9A | c.3028A>C (p.Ile1010Leu) c.28A>C (p.Ile10Leu) c.2995A>C (p.Ile999Leu) c.1877-224A>C n.870-4366T>G c.2641A>C (p.Ile881Leu) c.2284A>C (p.Ile762Leu) | |
2 | g.166272722T= | CA1304962835 | SCN1A-AS1,SCN9A | c.3028A= (p.Ile1010=) c.28A= (p.Ile10=) c.2995A= (p.Ile999=) c.1877-224A= n.870-4366T= c.2641A= (p.Ile881=) c.2284A= (p.Ile762=) | |
2 | g.166272723A>C | CA349074388 | SCN1A-AS1,SCN9A | c.3027T>G (p.Phe1009Leu) c.27T>G (p.Phe9Leu) c.2994T>G (p.Phe998Leu) c.1877-225T>G n.870-4365A>C c.2640T>G (p.Phe880Leu) c.2283T>G (p.Phe761Leu) | |
2 | g.166272723A>G | CA429977990 | SCN1A-AS1,SCN9A | c.3027T>C (p.Phe1009=) c.27T>C (p.Phe9=) c.2994T>C (p.Phe998=) c.1877-225T>C n.870-4365A>G c.2640T>C (p.Phe880=) c.2283T>C (p.Phe761=) | gnomAD v4 |
2 | g.166272723A>T | CA349074389 | SCN1A-AS1,SCN9A | c.3027T>A (p.Phe1009Leu) c.27T>A (p.Phe9Leu) c.2994T>A (p.Phe998Leu) c.1877-225T>A n.870-4365A>T c.2640T>A (p.Phe880Leu) c.2283T>A (p.Phe761Leu) | |
2 | g.166272723_166272726delinsAAAT | CA1304962836 | SCN1A-AS1,SCN9A | c.3024_3027delinsATTT (p.Glu1008=) c.24_27delinsATTT (p.Glu8=) c.2991_2994delinsATTT (p.Glu997=) c.1877-228_1877-225delinsATTT n.870-4365_870-4362delinsAAAT c.2637_2640delinsATTT (p.Glu879=) c.2280_2283delinsATTT (p.Glu760=) | |
2 | g.166272724A>C | CA349074391 | SCN1A-AS1,SCN9A | c.3026T>G (p.Phe1009Cys) c.26T>G (p.Phe9Cys) c.2993T>G (p.Phe998Cys) c.1877-226T>G n.870-4364A>C c.2639T>G (p.Phe880Cys) c.2282T>G (p.Phe761Cys) | COSMIC COSMIC |
2 | g.166272724A>G | CA349074394 | SCN1A-AS1,SCN9A | c.3026T>C (p.Phe1009Ser) c.26T>C (p.Phe9Ser) c.2993T>C (p.Phe998Ser) c.1877-226T>C n.870-4364A>G c.2639T>C (p.Phe880Ser) c.2282T>C (p.Phe761Ser) | |
2 | g.166272724A>T | CA349074396 | SCN1A-AS1,SCN9A | c.3026T>A (p.Phe1009Tyr) c.26T>A (p.Phe9Tyr) c.2993T>A (p.Phe998Tyr) c.1877-226T>A n.870-4364A>T c.2639T>A (p.Phe880Tyr) c.2282T>A (p.Phe761Tyr) | |
2 | g.166272724_166272726del | CA760206943 | SCN1A-AS1,SCN9A | c.3024_3026del (p.Glu1008_Phe1009delinsAsp) c.24_26del (p.Glu8_Phe9delinsAsp) c.2991_2993del (p.Glu997_Phe998delinsAsp) c.1877-228_1877-226del n.870-4364_870-4362del c.2637_2639del (p.Glu879_Phe880delinsAsp) c.2280_2282del (p.Glu760_Phe761delinsAsp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272725A= | CA1304962837 | SCN1A-AS1,SCN9A | c.3025T= (p.Phe1009=) c.25T= (p.Phe9=) c.2992T= (p.Phe998=) c.1877-227T= n.870-4363A= c.2638T= (p.Phe880=) c.2281T= (p.Phe761=) | |
2 | g.166272725A>C | CA349074399 | SCN1A-AS1,SCN9A | c.3025T>G (p.Phe1009Val) c.25T>G (p.Phe9Val) c.2992T>G (p.Phe998Val) c.1877-227T>G n.870-4363A>C c.2638T>G (p.Phe880Val) c.2281T>G (p.Phe761Val) | |
2 | g.166272725A>G | CA59791726 | SCN1A-AS1,SCN9A | c.3025T>C (p.Phe1009Leu) c.25T>C (p.Phe9Leu) c.2992T>C (p.Phe998Leu) c.1877-227T>C n.870-4363A>G c.2638T>C (p.Phe880Leu) c.2281T>C (p.Phe761Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272725A>T | CA349074410 | SCN1A-AS1,SCN9A | c.3025T>A (p.Phe1009Ile) c.25T>A (p.Phe9Ile) c.2992T>A (p.Phe998Ile) c.1877-227T>A n.870-4363A>T c.2638T>A (p.Phe880Ile) c.2281T>A (p.Phe761Ile) | |
2 | g.166272725_166272726delinsAT | CA1304962838 | SCN1A-AS1,SCN9A | c.3024_3025delinsAT (p.Glu1008=) c.24_25delinsAT (p.Glu8=) c.2991_2992delinsAT (p.Glu997=) c.1877-228_1877-227delinsAT n.870-4363_870-4362delinsAT c.2637_2638delinsAT (p.Glu879=) c.2280_2281delinsAT (p.Glu760=) | |
2 | g.166272726T>A | CA349074417 | SCN1A-AS1,SCN9A | c.3024A>T (p.Glu1008Asp) c.24A>T (p.Glu8Asp) c.2991A>T (p.Glu997Asp) c.1877-228A>T n.870-4362T>A c.2637A>T (p.Glu879Asp) c.2280A>T (p.Glu760Asp) | |
2 | g.166272726T>C | CA429977993 | SCN1A-AS1,SCN9A | c.3024A>G (p.Glu1008=) c.24A>G (p.Glu8=) c.2991A>G (p.Glu997=) c.1877-228A>G n.870-4362T>C c.2637A>G (p.Glu879=) c.2280A>G (p.Glu760=) | |
2 | g.166272726T>G | CA349074414 | SCN1A-AS1,SCN9A | c.3024A>C (p.Glu1008Asp) c.24A>C (p.Glu8Asp) c.2991A>C (p.Glu997Asp) c.1877-228A>C n.870-4362T>G c.2637A>C (p.Glu879Asp) c.2280A>C (p.Glu760Asp) | |
2 | g.166272727del | CA760206950 | SCN1A-AS1,SCN9A | c.3024del (p.Glu1008AspfsTer4) c.24del (p.Glu8AspfsTer4) c.2991del (p.Glu997AspfsTer4) c.1877-228del n.870-4361del c.2637del (p.Glu879AspfsTer4) c.2280del (p.Glu760AspfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272727T>A | CA349074420 | SCN1A-AS1,SCN9A | c.3023A>T (p.Glu1008Val) c.23A>T (p.Glu8Val) c.2990A>T (p.Glu997Val) c.1877-229A>T n.870-4361T>A c.2636A>T (p.Glu879Val) c.2279A>T (p.Glu760Val) | |
2 | g.166272727T>C | CA349074423 | SCN1A-AS1,SCN9A | c.3023A>G (p.Glu1008Gly) c.23A>G (p.Glu8Gly) c.2990A>G (p.Glu997Gly) c.1877-229A>G n.870-4361T>C c.2636A>G (p.Glu879Gly) c.2279A>G (p.Glu760Gly) | gnomAD v4 |
2 | g.166272727T>G | CA349074426 | SCN1A-AS1,SCN9A | c.3023A>C (p.Glu1008Ala) c.23A>C (p.Glu8Ala) c.2990A>C (p.Glu997Ala) c.1877-229A>C n.870-4361T>G c.2636A>C (p.Glu879Ala) c.2279A>C (p.Glu760Ala) | |
2 | g.166272728C>A | CA349074430 | SCN1A-AS1,SCN9A | c.3022G>T (p.Glu1008Ter) c.22G>T (p.Glu8Ter) c.2989G>T (p.Glu997Ter) c.1877-230G>T n.870-4360C>A c.2635G>T (p.Glu879Ter) c.2278G>T (p.Glu760Ter) | dbSNP gnomAD v4 |
2 | g.166272728C= | CA1304962839 | SCN1A-AS1,SCN9A | c.3022G= (p.Glu1008=) c.22G= (p.Glu8=) c.2989G= (p.Glu997=) c.1877-230G= n.870-4360C= c.2635G= (p.Glu879=) c.2278G= (p.Glu760=) | |
2 | g.166272728C>G | CA349074433 | SCN1A-AS1,SCN9A | c.3022G>C (p.Glu1008Gln) c.22G>C (p.Glu8Gln) c.2989G>C (p.Glu997Gln) c.1877-230G>C n.870-4360C>G c.2635G>C (p.Glu879Gln) c.2278G>C (p.Glu760Gln) | |
2 | g.166272728C>T | CA349074435 | SCN1A-AS1,SCN9A | c.3022G>A (p.Glu1008Lys) c.22G>A (p.Glu8Lys) c.2989G>A (p.Glu997Lys) c.1877-230G>A n.870-4360C>T c.2635G>A (p.Glu879Lys) c.2278G>A (p.Glu760Lys) | |
2 | g.166272729A>C | CA429977994 | SCN1A-AS1,SCN9A | c.3021T>G (p.Arg1007=) c.21T>G (p.Arg7=) c.2988T>G (p.Arg996=) c.1877-231T>G n.870-4359A>C c.2634T>G (p.Arg878=) c.2277T>G (p.Arg759=) | |
2 | g.166272729A>G | CA429977996 | SCN1A-AS1,SCN9A | c.3021T>C (p.Arg1007=) c.21T>C (p.Arg7=) c.2988T>C (p.Arg996=) c.1877-231T>C n.870-4359A>G c.2634T>C (p.Arg878=) c.2277T>C (p.Arg759=) | |
2 | g.166272729A>T | CA429977998 | SCN1A-AS1,SCN9A | c.3021T>A (p.Arg1007=) c.21T>A (p.Arg7=) c.2988T>A (p.Arg996=) c.1877-231T>A n.870-4359A>T c.2634T>A (p.Arg878=) c.2277T>A (p.Arg759=) | |
2 | g.166272730C>A | CA349074441 | SCN1A-AS1,SCN9A | c.3020G>T (p.Arg1007Leu) c.20G>T (p.Arg7Leu) c.2987G>T (p.Arg996Leu) c.1877-232G>T n.870-4358C>A c.2633G>T (p.Arg878Leu) c.2276G>T (p.Arg759Leu) | |
2 | g.166272730C= | CA1304962840 | SCN1A-AS1,SCN9A | c.3020G= (p.Arg1007=) c.20G= (p.Arg7=) c.2987G= (p.Arg996=) c.1877-232G= n.870-4358C= c.2633G= (p.Arg878=) c.2276G= (p.Arg759=) | |
2 | g.166272730C>G | CA349074438 | SCN1A-AS1,SCN9A | c.3020G>C (p.Arg1007Pro) c.20G>C (p.Arg7Pro) c.2987G>C (p.Arg996Pro) c.1877-232G>C n.870-4358C>G c.2633G>C (p.Arg878Pro) c.2276G>C (p.Arg759Pro) | dbSNP |
2 | g.166272730C>T | CA1944153 | SCN1A-AS1,SCN9A | c.3020G>A (p.Arg1007His) c.20G>A (p.Arg7His) c.2987G>A (p.Arg996His) c.1877-232G>A n.870-4358C>T c.2633G>A (p.Arg878His) c.2276G>A (p.Arg759His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G>A | CA118140 | SCN1A-AS1,SCN9A | c.3019C>T (p.Arg1007Cys) c.19C>T (p.Arg7Cys) c.2986C>T (p.Arg996Cys) c.1877-233C>T n.870-4357G>A c.2632C>T (p.Arg878Cys) c.2275C>T (p.Arg759Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G>C | CA1944154 | SCN1A-AS1,SCN9A | c.3019C>G (p.Arg1007Gly) c.19C>G (p.Arg7Gly) c.2986C>G (p.Arg996Gly) c.1877-233C>G n.870-4357G>C c.2632C>G (p.Arg878Gly) c.2275C>G (p.Arg759Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272731G= | CA1304962841 | SCN1A-AS1,SCN9A | c.3019C= (p.Arg1007=) c.19C= (p.Arg7=) c.2986C= (p.Arg996=) c.1877-233C= n.870-4357G= c.2632C= (p.Arg878=) c.2275C= (p.Arg759=) | |
2 | g.166272731G>T | CA349074448 | SCN1A-AS1,SCN9A | c.3019C>A (p.Arg1007Ser) c.19C>A (p.Arg7Ser) c.2986C>A (p.Arg996Ser) c.1877-233C>A n.870-4357G>T c.2632C>A (p.Arg878Ser) c.2275C>A (p.Arg759Ser) | |
2 | g.166272732T>A | CA349074452 | SCN1A-AS1,SCN9A | c.3018A>T (p.Leu1006Phe) c.18A>T (p.Leu6Phe) c.2985A>T (p.Leu995Phe) c.1877-234A>T n.870-4356T>A c.2631A>T (p.Leu877Phe) c.2274A>T (p.Leu758Phe) | |
2 | g.166272732T>C | CA429978002 | SCN1A-AS1,SCN9A | c.3018A>G (p.Leu1006=) c.18A>G (p.Leu6=) c.2985A>G (p.Leu995=) c.1877-234A>G n.870-4356T>C c.2631A>G (p.Leu877=) c.2274A>G (p.Leu758=) | |
2 | g.166272732T>G | CA349074453 | SCN1A-AS1,SCN9A | c.3018A>C (p.Leu1006Phe) c.18A>C (p.Leu6Phe) c.2985A>C (p.Leu995Phe) c.1877-234A>C n.870-4356T>G c.2631A>C (p.Leu877Phe) c.2274A>C (p.Leu758Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272732T= | CA1304962842 | SCN1A-AS1,SCN9A | c.3018A= (p.Leu1006=) c.18A= (p.Leu6=) c.2985A= (p.Leu995=) c.1877-234A= n.870-4356T= c.2631A= (p.Leu877=) c.2274A= (p.Leu758=) | |
2 | g.166272733A>C | CA349074457 | SCN1A-AS1,SCN9A | c.3017T>G (p.Leu1006Ter) c.17T>G (p.Leu6Ter) c.2984T>G (p.Leu995Ter) c.1877-235T>G n.870-4355A>C c.2630T>G (p.Leu877Ter) c.2273T>G (p.Leu758Ter) | |
2 | g.166272733A>G | CA349074460 | SCN1A-AS1,SCN9A | c.3017T>C (p.Leu1006Ser) c.17T>C (p.Leu6Ser) c.2984T>C (p.Leu995Ser) c.1877-235T>C n.870-4355A>G c.2630T>C (p.Leu877Ser) c.2273T>C (p.Leu758Ser) | |
2 | g.166272733A>T | CA349074458 | SCN1A-AS1,SCN9A | c.3017T>A (p.Leu1006Ter) c.17T>A (p.Leu6Ter) c.2984T>A (p.Leu995Ter) c.1877-235T>A n.870-4355A>T c.2630T>A (p.Leu877Ter) c.2273T>A (p.Leu758Ter) | |
2 | g.166272734A>C | CA349074461 | SCN1A-AS1,SCN9A | c.3016T>G (p.Leu1006Val) c.16T>G (p.Leu6Val) c.2983T>G (p.Leu995Val) c.1877-236T>G n.870-4354A>C c.2629T>G (p.Leu877Val) c.2272T>G (p.Leu758Val) | |
2 | g.166272734A>G | CA429978005 | SCN1A-AS1,SCN9A | c.3016T>C (p.Leu1006=) c.16T>C (p.Leu6=) c.2983T>C (p.Leu995=) c.1877-236T>C n.870-4354A>G c.2629T>C (p.Leu877=) c.2272T>C (p.Leu758=) | |
2 | g.166272734A>T | CA349074463 | SCN1A-AS1,SCN9A | c.3016T>A (p.Leu1006Ile) c.16T>A (p.Leu6Ile) c.2983T>A (p.Leu995Ile) c.1877-236T>A n.870-4354A>T c.2629T>A (p.Leu877Ile) c.2272T>A (p.Leu758Ile) | |
2 | g.166272735G>A | CA429978009 | SCN1A-AS1,SCN9A | c.3015C>T (p.Thr1005=) c.15C>T (p.Thr5=) c.2982C>T (p.Thr994=) c.1877-237C>T n.870-4353G>A c.2628C>T (p.Thr876=) c.2271C>T (p.Thr757=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272735G>C | CA429978010 | SCN1A-AS1,SCN9A | c.3015C>G (p.Thr1005=) c.15C>G (p.Thr5=) c.2982C>G (p.Thr994=) c.1877-237C>G n.870-4353G>C c.2628C>G (p.Thr876=) c.2271C>G (p.Thr757=) | |
2 | g.166272735G= | CA1304962843 | SCN1A-AS1,SCN9A | c.3015C= (p.Thr1005=) c.15C= (p.Thr5=) c.2982C= (p.Thr994=) c.1877-237C= n.870-4353G= c.2628C= (p.Thr876=) c.2271C= (p.Thr757=) | |
2 | g.166272735G>T | CA429978011 | SCN1A-AS1,SCN9A | c.3015C>A (p.Thr1005=) c.15C>A (p.Thr5=) c.2982C>A (p.Thr994=) c.1877-237C>A n.870-4353G>T c.2628C>A (p.Thr876=) c.2271C>A (p.Thr757=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272736G>A | CA1944155 | SCN1A-AS1,SCN9A | c.3014C>T (p.Thr1005Ile) c.14C>T (p.Thr5Ile) c.2981C>T (p.Thr994Ile) c.1877-238C>T n.870-4352G>A c.2627C>T (p.Thr876Ile) c.2270C>T (p.Thr757Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272736G>C | CA349074467 | SCN1A-AS1,SCN9A | c.3014C>G (p.Thr1005Ser) c.14C>G (p.Thr5Ser) c.2981C>G (p.Thr994Ser) c.1877-238C>G n.870-4352G>C c.2627C>G (p.Thr876Ser) c.2270C>G (p.Thr757Ser) | |
2 | g.166272736G= | CA1304962844 | SCN1A-AS1,SCN9A | c.3014C= (p.Thr1005=) c.14C= (p.Thr5=) c.2981C= (p.Thr994=) c.1877-238C= n.870-4352G= c.2627C= (p.Thr876=) c.2270C= (p.Thr757=) | |
2 | g.166272736G>T | CA59791754 | SCN1A-AS1,SCN9A | c.3014C>A (p.Thr1005Asn) c.14C>A (p.Thr5Asn) c.2981C>A (p.Thr994Asn) c.1877-238C>A n.870-4352G>T c.2627C>A (p.Thr876Asn) c.2270C>A (p.Thr757Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272737T>A | CA349074469 | SCN1A-AS1,SCN9A | c.3013A>T (p.Thr1005Ser) c.13A>T (p.Thr5Ser) c.2980A>T (p.Thr994Ser) c.1877-239A>T n.870-4351T>A c.2626A>T (p.Thr876Ser) c.2269A>T (p.Thr757Ser) | |
2 | g.166272737T>C | CA349074470 | SCN1A-AS1,SCN9A | c.3013A>G (p.Thr1005Ala) c.13A>G (p.Thr5Ala) c.2980A>G (p.Thr994Ala) c.1877-239A>G n.870-4351T>C c.2626A>G (p.Thr876Ala) c.2269A>G (p.Thr757Ala) | ClinVar |
2 | g.166272737T>G | CA349074471 | SCN1A-AS1,SCN9A | c.3013A>C (p.Thr1005Pro) c.13A>C (p.Thr5Pro) c.2980A>C (p.Thr994Pro) c.1877-239A>C n.870-4351T>G c.2626A>C (p.Thr876Pro) c.2269A>C (p.Thr757Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272737T= | CA1304962845 | SCN1A-AS1,SCN9A | c.3013A= (p.Thr1005=) c.13A= (p.Thr5=) c.2980A= (p.Thr994=) c.1877-239A= n.870-4351T= c.2626A= (p.Thr876=) c.2269A= (p.Thr757=) | |
2 | g.166272738T>A | CA349074474 | SCN1A-AS1,SCN9A | c.3012A>T (p.Gln1004His) c.12A>T (p.Gln4His) c.2979A>T (p.Gln993His) c.1877-240A>T n.870-4350T>A c.2625A>T (p.Gln875His) c.2268A>T (p.Gln756His) | |
2 | g.166272738T>C | CA429978015 | SCN1A-AS1,SCN9A | c.3012A>G (p.Gln1004=) c.12A>G (p.Gln4=) c.2979A>G (p.Gln993=) c.1877-240A>G n.870-4350T>C c.2625A>G (p.Gln875=) c.2268A>G (p.Gln756=) | |
2 | g.166272738T>G | CA349074475 | SCN1A-AS1,SCN9A | c.3012A>C (p.Gln1004His) c.12A>C (p.Gln4His) c.2979A>C (p.Gln993His) c.1877-240A>C n.870-4350T>G c.2625A>C (p.Gln875His) c.2268A>C (p.Gln756His) | dbSNP |
2 | g.166272738T= | CA1304962846 | SCN1A-AS1,SCN9A | c.3012A= (p.Gln1004=) c.12A= (p.Gln4=) c.2979A= (p.Gln993=) c.1877-240A= n.870-4350T= c.2625A= (p.Gln875=) c.2268A= (p.Gln756=) | |
2 | g.166272739T>A | CA349074477 | SCN1A-AS1,SCN9A | c.3011A>T (p.Gln1004Leu) c.11A>T (p.Gln4Leu) c.2978A>T (p.Gln993Leu) c.1877-241A>T n.870-4349T>A c.2624A>T (p.Gln875Leu) c.2267A>T (p.Gln756Leu) | |
2 | g.166272739T>C | CA349074479 | SCN1A-AS1,SCN9A | c.3011A>G (p.Gln1004Arg) c.11A>G (p.Gln4Arg) c.2978A>G (p.Gln993Arg) c.1877-241A>G n.870-4349T>C c.2624A>G (p.Gln875Arg) c.2267A>G (p.Gln756Arg) | |
2 | g.166272739T>G | CA349074481 | SCN1A-AS1,SCN9A | c.3011A>C (p.Gln1004Pro) c.11A>C (p.Gln4Pro) c.2978A>C (p.Gln993Pro) c.1877-241A>C n.870-4349T>G c.2624A>C (p.Gln875Pro) c.2267A>C (p.Gln756Pro) | |
2 | g.166272740G>A | CA349074486 | SCN1A-AS1,SCN9A | c.3010C>T (p.Gln1004Ter) c.10C>T (p.Gln4Ter) c.2977C>T (p.Gln993Ter) c.1877-242C>T n.870-4348G>A c.2623C>T (p.Gln875Ter) c.2266C>T (p.Gln756Ter) | dbSNP |
2 | g.166272740G>C | CA1944156 | SCN1A-AS1,SCN9A | c.3010C>G (p.Gln1004Glu) c.10C>G (p.Gln4Glu) c.2977C>G (p.Gln993Glu) c.1877-242C>G n.870-4348G>C c.2623C>G (p.Gln875Glu) c.2266C>G (p.Gln756Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272740G= | CA1304962847 | SCN1A-AS1,SCN9A | c.3010C= (p.Gln1004=) c.10C= (p.Gln4=) c.2977C= (p.Gln993=) c.1877-242C= n.870-4348G= c.2623C= (p.Gln875=) c.2266C= (p.Gln756=) | |
2 | g.166272740G>T | CA349074484 | SCN1A-AS1,SCN9A | c.3010C>A (p.Gln1004Lys) c.10C>A (p.Gln4Lys) c.2977C>A (p.Gln993Lys) c.1877-242C>A n.870-4348G>T c.2623C>A (p.Gln875Lys) c.2266C>A (p.Gln756Lys) | |
2 | g.166272741T>A | CA349074488 | SCN1A-AS1,SCN9A | c.3009A>T (p.Lys1003Asn) c.9A>T (p.Lys3Asn) c.2976A>T (p.Lys992Asn) c.1877-243A>T n.870-4347T>A c.2622A>T (p.Lys874Asn) c.2265A>T (p.Lys755Asn) | |
2 | g.166272741T>C | CA429978021 | SCN1A-AS1,SCN9A | c.3009A>G (p.Lys1003=) c.9A>G (p.Lys3=) c.2976A>G (p.Lys992=) c.1877-243A>G n.870-4347T>C c.2622A>G (p.Lys874=) c.2265A>G (p.Lys755=) | ClinVar dbSNP |
2 | g.166272741T>G | CA349074490 | SCN1A-AS1,SCN9A | c.3009A>C (p.Lys1003Asn) c.9A>C (p.Lys3Asn) c.2976A>C (p.Lys992Asn) c.1877-243A>C n.870-4347T>G c.2622A>C (p.Lys874Asn) c.2265A>C (p.Lys755Asn) | |
2 | g.166272742T>A | CA349074492 | SCN1A-AS1,SCN9A | c.3008A>T (p.Lys1003Ile) c.8A>T (p.Lys3Ile) c.2975A>T (p.Lys992Ile) c.1877-244A>T n.870-4346T>A c.2621A>T (p.Lys874Ile) c.2264A>T (p.Lys755Ile) | |
2 | g.166272742T>C | CA349074494 | SCN1A-AS1,SCN9A | c.3008A>G (p.Lys1003Arg) c.8A>G (p.Lys3Arg) c.2975A>G (p.Lys992Arg) c.1877-244A>G n.870-4346T>C c.2621A>G (p.Lys874Arg) c.2264A>G (p.Lys755Arg) | |
2 | g.166272742T>G | CA349074495 | SCN1A-AS1,SCN9A | c.3008A>C (p.Lys1003Thr) c.8A>C (p.Lys3Thr) c.2975A>C (p.Lys992Thr) c.1877-244A>C n.870-4346T>G c.2621A>C (p.Lys874Thr) c.2264A>C (p.Lys755Thr) | |
2 | g.166272743T>A | CA349074498 | SCN1A-AS1,SCN9A | c.3007A>T (p.Lys1003Ter) c.7A>T (p.Lys3Ter) c.2974A>T (p.Lys992Ter) c.1877-245A>T n.870-4345T>A c.2620A>T (p.Lys874Ter) c.2263A>T (p.Lys755Ter) | |
2 | g.166272743T>C | CA1944157 | SCN1A-AS1,SCN9A | c.3007A>G (p.Lys1003Glu) c.7A>G (p.Lys3Glu) c.2974A>G (p.Lys992Glu) c.1877-245A>G n.870-4345T>C c.2620A>G (p.Lys874Glu) c.2263A>G (p.Lys755Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272743T>G | CA349074500 | SCN1A-AS1,SCN9A | c.3007A>C (p.Lys1003Gln) c.7A>C (p.Lys3Gln) c.2974A>C (p.Lys992Gln) c.1877-245A>C n.870-4345T>G c.2620A>C (p.Lys874Gln) c.2263A>C (p.Lys755Gln) | |
2 | g.166272743T= | CA1304962848 | SCN1A-AS1,SCN9A | c.3007A= (p.Lys1003=) c.7A= (p.Lys3=) c.2974A= (p.Lys992=) c.1877-245A= n.870-4345T= c.2620A= (p.Lys874=) c.2263A= (p.Lys755=) | |
2 | g.166272744C>A | CA429978024 | SCN1A-AS1,SCN9A | c.3006G>T (p.Val1002=) c.6G>T (p.Val2=) c.2973G>T (p.Val991=) c.1877-246G>T n.870-4344C>A c.2619G>T (p.Val873=) c.2262G>T (p.Val754=) | COSMIC |
2 | g.166272744C>G | CA429978025 | SCN1A-AS1,SCN9A | c.3006G>C (p.Val1002=) c.6G>C (p.Val2=) c.2973G>C (p.Val991=) c.1877-246G>C n.870-4344C>G c.2619G>C (p.Val873=) c.2262G>C (p.Val754=) | |
2 | g.166272744C>T | CA429978027 | SCN1A-AS1,SCN9A | c.3006G>A (p.Val1002=) c.6G>A (p.Val2=) c.2973G>A (p.Val991=) c.1877-246G>A n.870-4344C>T c.2619G>A (p.Val873=) c.2262G>A (p.Val754=) | |
2 | g.166272745A>C | CA349074502 | SCN1A-AS1,SCN9A | c.3005T>G (p.Val1002Gly) c.5T>G (p.Val2Gly) c.2972T>G (p.Val991Gly) c.1877-247T>G n.870-4343A>C c.2618T>G (p.Val873Gly) c.2261T>G (p.Val754Gly) | dbSNP |
2 | g.166272745A>G | CA349074503 | SCN1A-AS1,SCN9A | c.3005T>C (p.Val1002Ala) c.5T>C (p.Val2Ala) c.2972T>C (p.Val991Ala) c.1877-247T>C n.870-4343A>G c.2618T>C (p.Val873Ala) c.2261T>C (p.Val754Ala) | gnomAD v4 |
2 | g.166272745A>T | CA349074505 | SCN1A-AS1,SCN9A | c.3005T>A (p.Val1002Glu) c.5T>A (p.Val2Glu) c.2972T>A (p.Val991Glu) c.1877-247T>A n.870-4343A>T c.2618T>A (p.Val873Glu) c.2261T>A (p.Val754Glu) | |
2 | g.166272746C>A | CA147606 | SCN1A-AS1,SCN9A | c.3004G>T (p.Val1002Leu) c.4G>T (p.Val2Leu) c.2971G>T (p.Val991Leu) c.1877-248G>T n.870-4342C>A c.2617G>T (p.Val873Leu) c.2260G>T (p.Val754Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.[166272746C>A;166277030T>G] | CA357867 | SCN1A-AS1,SCN9A | c.[2827A>C;3004G>T] (p.[Met943Leu;Val1002Leu]) c.[2794A>C;2971G>T] (p.[Met932Leu;Val991Leu]) c.[1829A>C;1877-248G>T] n.[870-4342C>A;870-58T>G] c.[2440A>C;2617G>T] (p.[Met814Leu;Val873Leu]) c.[2083A>C;2260G>T] (p.[Met695Leu;Val754Leu]) | |
2 | g.166272746C= | CA1304962849 | SCN1A-AS1,SCN9A | c.3004G= (p.Val1002=) c.4G= (p.Val2=) c.2971G= (p.Val991=) c.1877-248G= n.870-4342C= c.2617G= (p.Val873=) c.2260G= (p.Val754=) | |
2 | g.166272746C>G | CA349074509 | SCN1A-AS1,SCN9A | c.3004G>C (p.Val1002Leu) c.4G>C (p.Val2Leu) c.2971G>C (p.Val991Leu) c.1877-248G>C n.870-4342C>G c.2617G>C (p.Val873Leu) c.2260G>C (p.Val754Leu) | |
2 | g.166272746C>T | CA349074508 | SCN1A-AS1,SCN9A | c.3004G>A (p.Val1002Met) c.4G>A (p.Val2Met) c.2971G>A (p.Val991Met) c.1877-248G>A n.870-4342C>T c.2617G>A (p.Val873Met) c.2260G>A (p.Val754Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166272747A= | CA1304962850 | SCN1A-AS1,SCN9A | c.3003T= (p.Tyr1001=) c.3T= (p.Tyr1=) c.2970T= (p.Tyr990=) c.1877-249T= n.870-4341A= c.2616T= (p.Tyr872=) c.2259T= (p.Tyr753=) | |
2 | g.166272747A>C | CA349074510 | SCN1A-AS1,SCN9A | c.3003T>G (p.Tyr1001Ter) c.3T>G (p.Tyr1Ter) c.2970T>G (p.Tyr990Ter) c.1877-249T>G n.870-4341A>C c.2616T>G (p.Tyr872Ter) c.2259T>G (p.Tyr753Ter) | |
2 | g.166272747A>G | CA10586790 | SCN1A-AS1,SCN9A | c.3003T>C (p.Tyr1001=) c.3T>C (p.Tyr1=) c.2970T>C (p.Tyr990=) c.1877-249T>C n.870-4341A>G c.2616T>C (p.Tyr872=) c.2259T>C (p.Tyr753=) | ClinVar dbSNP |
2 | g.166272747A>T | CA349074512 | SCN1A-AS1,SCN9A | c.3003T>A (p.Tyr1001Ter) c.3T>A (p.Tyr1Ter) c.2970T>A (p.Tyr990Ter) c.1877-249T>A n.870-4341A>T c.2616T>A (p.Tyr872Ter) c.2259T>A (p.Tyr753Ter) | |
2 | g.166272748T>A | CA349074515 | SCN1A-AS1,SCN9A | c.3002A>T (p.Tyr1001Phe) c.2A>T (p.Tyr1Phe) c.2969A>T (p.Tyr990Phe) c.1877-250A>T n.870-4340T>A c.2615A>T (p.Tyr872Phe) c.2258A>T (p.Tyr753Phe) | COSMIC COSMIC |
2 | g.166272748T>C | CA231497 | SCN1A-AS1,SCN9A | c.3002A>G (p.Tyr1001Cys) c.2A>G (p.Tyr1Cys) c.2969A>G (p.Tyr990Cys) c.1877-250A>G n.870-4340T>C c.2615A>G (p.Tyr872Cys) c.2258A>G (p.Tyr753Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272748T>G | CA349074517 | SCN1A-AS1,SCN9A | c.3002A>C (p.Tyr1001Ser) c.2A>C (p.Tyr1Ser) c.2969A>C (p.Tyr990Ser) c.1877-250A>C n.870-4340T>G c.2615A>C (p.Tyr872Ser) c.2258A>C (p.Tyr753Ser) | |
2 | g.166272748T= | CA1304962851 | SCN1A-AS1,SCN9A | c.3002A= (p.Tyr1001=) c.2A= (p.Tyr1=) c.2969A= (p.Tyr990=) c.1877-250A= n.870-4340T= c.2615A= (p.Tyr872=) c.2258A= (p.Tyr753=) | |
2 | g.166272749A>C | CA349074518 | SCN1A-AS1,SCN9A | c.3001T>G (p.Tyr1001Asp) c.1T>G (p.Tyr1Asp) c.2968T>G (p.Tyr990Asp) c.1877-251T>G n.870-4339A>C c.2614T>G (p.Tyr872Asp) c.2257T>G (p.Tyr753Asp) | |
2 | g.166272749A>G | CA349074519 | SCN1A-AS1,SCN9A | c.3001T>C (p.Tyr1001His) c.1T>C (p.Tyr1His) c.2968T>C (p.Tyr990His) c.1877-251T>C n.870-4339A>G c.2614T>C (p.Tyr872His) c.2257T>C (p.Tyr753His) | |
2 | g.166272749A>T | CA349074520 | SCN1A-AS1,SCN9A | c.3001T>A (p.Tyr1001Asn) c.1T>A (p.Tyr1Asn) c.2968T>A (p.Tyr990Asn) c.1877-251T>A n.870-4339A>T c.2614T>A (p.Tyr872Asn) c.2257T>A (p.Tyr753Asn) | |
2 | g.166272750A>C | CA349074521 | SCN1A-AS1,SCN9A | c.3000T>G (p.Asn1000Lys) c.2967T>G (p.Asn989Lys) c.1877-252T>G n.870-4338A>C c.2613T>G (p.Asn871Lys) c.2256T>G (p.Asn752Lys) | |
2 | g.166272750A>G | CA429978037 | SCN1A-AS1,SCN9A | c.3000T>C (p.Asn1000=) c.2967T>C (p.Asn989=) c.1877-252T>C n.870-4338A>G c.2613T>C (p.Asn871=) c.2256T>C (p.Asn752=) | |
2 | g.166272750A>T | CA349074522 | SCN1A-AS1,SCN9A | c.3000T>A (p.Asn1000Lys) c.2967T>A (p.Asn989Lys) c.1877-252T>A n.870-4338A>T c.2613T>A (p.Asn871Lys) c.2256T>A (p.Asn752Lys) | |
2 | g.166272751T>A | CA349074523 | SCN1A-AS1,SCN9A | c.2999A>T (p.Asn1000Ile) c.2966A>T (p.Asn989Ile) c.1877-253A>T n.870-4337T>A c.2612A>T (p.Asn871Ile) c.2255A>T (p.Asn752Ile) | |
2 | g.166272751T>C | CA59791793 | SCN1A-AS1,SCN9A | c.2999A>G (p.Asn1000Ser) c.2966A>G (p.Asn989Ser) c.1877-253A>G n.870-4337T>C c.2612A>G (p.Asn871Ser) c.2255A>G (p.Asn752Ser) | dbSNP |
2 | g.166272751T>G | CA349074524 | SCN1A-AS1,SCN9A | c.2999A>C (p.Asn1000Thr) c.2966A>C (p.Asn989Thr) c.1877-253A>C n.870-4337T>G c.2612A>C (p.Asn871Thr) c.2255A>C (p.Asn752Thr) | |
2 | g.166272751T= | CA1304962852 | SCN1A-AS1,SCN9A | c.2999A= (p.Asn1000=) c.2966A= (p.Asn989=) c.1877-253A= n.870-4337T= c.2612A= (p.Asn871=) c.2255A= (p.Asn752=) | |
2 | g.166272752T>A | CA349074529 | SCN1A-AS1,SCN9A | c.2998A>T (p.Asn1000Tyr) c.2965A>T (p.Asn989Tyr) c.1877-254A>T n.870-4336T>A c.2611A>T (p.Asn871Tyr) c.2254A>T (p.Asn752Tyr) | |
2 | g.166272752T>C | CA349074526 | SCN1A-AS1,SCN9A | c.2998A>G (p.Asn1000Asp) c.2965A>G (p.Asn989Asp) c.1877-254A>G n.870-4336T>C c.2611A>G (p.Asn871Asp) c.2254A>G (p.Asn752Asp) | |
2 | g.166272752T>G | CA59791794 | SCN1A-AS1,SCN9A | c.2998A>C (p.Asn1000His) c.2965A>C (p.Asn989His) c.1877-254A>C n.870-4336T>G c.2611A>C (p.Asn871His) c.2254A>C (p.Asn752His) | dbSNP |
2 | g.166272752T= | CA1304962853 | SCN1A-AS1,SCN9A | c.2998A= (p.Asn1000=) c.2965A= (p.Asn989=) c.1877-254A= n.870-4336T= c.2611A= (p.Asn871=) c.2254A= (p.Asn752=) | |
2 | g.166272753T>A | CA429978039 | SCN1A-AS1,SCN9A | c.2997A>T (p.Ile999=) c.2964A>T (p.Ile988=) c.1877-255A>T n.870-4335T>A c.2610A>T (p.Ile870=) c.2253A>T (p.Ile751=) | |
2 | g.166272753T>C | CA349074531 | SCN1A-AS1,SCN9A | c.2997A>G (p.Ile999Met) c.2964A>G (p.Ile988Met) c.1877-255A>G n.870-4335T>C c.2610A>G (p.Ile870Met) c.2253A>G (p.Ile751Met) | |
2 | g.166272753T>G | CA429978040 | SCN1A-AS1,SCN9A | c.2997A>C (p.Ile999=) c.2964A>C (p.Ile988=) c.1877-255A>C n.870-4335T>G c.2610A>C (p.Ile870=) c.2253A>C (p.Ile751=) | |
2 | g.166272754A>C | CA349074534 | SCN1A-AS1,SCN9A | c.2996T>G (p.Ile999Arg) c.2963T>G (p.Ile988Arg) c.1877-256T>G n.870-4334A>C c.2609T>G (p.Ile870Arg) c.2252T>G (p.Ile751Arg) | |
2 | g.166272754A>G | CA349074536 | SCN1A-AS1,SCN9A | c.2996T>C (p.Ile999Thr) c.2963T>C (p.Ile988Thr) c.1877-256T>C n.870-4334A>G c.2609T>C (p.Ile870Thr) c.2252T>C (p.Ile751Thr) | ClinVar dbSNP |
2 | g.166272754A>T | CA349074537 | SCN1A-AS1,SCN9A | c.2996T>A (p.Ile999Lys) c.2963T>A (p.Ile988Lys) c.1877-256T>A n.870-4334A>T c.2609T>A (p.Ile870Lys) c.2252T>A (p.Ile751Lys) | |
2 | g.166272755T>A | CA349074540 | SCN1A-AS1,SCN9A | c.2995A>T (p.Ile999Leu) c.2962A>T (p.Ile988Leu) c.1877-257A>T n.870-4333T>A c.2608A>T (p.Ile870Leu) c.2251A>T (p.Ile751Leu) | |
2 | g.166272755T>C | CA349074542 | SCN1A-AS1,SCN9A | c.2995A>G (p.Ile999Val) c.2962A>G (p.Ile988Val) c.1877-257A>G n.870-4333T>C c.2608A>G (p.Ile870Val) c.2251A>G (p.Ile751Val) | ClinVar dbSNP |
2 | g.166272755T>G | CA349074543 | SCN1A-AS1,SCN9A | c.2995A>C (p.Ile999Leu) c.2962A>C (p.Ile988Leu) c.1877-257A>C n.870-4333T>G c.2608A>C (p.Ile870Leu) c.2251A>C (p.Ile751Leu) | |
2 | g.166272756T>A | CA429978043 | SCN1A-AS1,SCN9A | c.2994A>T (p.Gly998=) c.2961A>T (p.Gly987=) c.1877-258A>T n.870-4332T>A c.2607A>T (p.Gly869=) c.2250A>T (p.Gly750=) | |
2 | g.166272756T>C | CA429978044 | SCN1A-AS1,SCN9A | c.2994A>G (p.Gly998=) c.2961A>G (p.Gly987=) c.1877-258A>G n.870-4332T>C c.2607A>G (p.Gly869=) c.2250A>G (p.Gly750=) | |
2 | g.166272756T>G | CA429978046 | SCN1A-AS1,SCN9A | c.2994A>C (p.Gly998=) c.2961A>C (p.Gly987=) c.1877-258A>C n.870-4332T>G c.2607A>C (p.Gly869=) c.2250A>C (p.Gly750=) | ClinVar dbSNP |
2 | g.166272756T= | CA1304962854 | SCN1A-AS1,SCN9A | c.2994A= (p.Gly998=) c.2961A= (p.Gly987=) c.1877-258A= n.870-4332T= c.2607A= (p.Gly869=) c.2250A= (p.Gly750=) | |
2 | g.166272756_166272757delinsTC | CA1304962855 | SCN1A-AS1,SCN9A | c.2993_2994delinsGA (p.Gly998=) c.2960_2961delinsGA (p.Gly987=) c.1877-259_1877-258delinsGA n.870-4332_870-4331delinsTC c.2606_2607delinsGA (p.Gly869=) c.2249_2250delinsGA (p.Gly750=) | |
2 | g.166272757C>A | CA349074546 | SCN1A-AS1,SCN9A | c.2993G>T (p.Gly998Val) c.2960G>T (p.Gly987Val) c.1877-259G>T n.870-4331C>A c.2606G>T (p.Gly869Val) c.2249G>T (p.Gly750Val) | |
2 | g.166272757C>G | CA349074548 | SCN1A-AS1,SCN9A | c.2993G>C (p.Gly998Ala) c.2960G>C (p.Gly987Ala) c.1877-259G>C n.870-4331C>G c.2606G>C (p.Gly869Ala) c.2249G>C (p.Gly750Ala) | |
2 | g.166272757C>T | CA349074549 | SCN1A-AS1,SCN9A | c.2993G>A (p.Gly998Glu) c.2960G>A (p.Gly987Glu) c.1877-259G>A n.870-4331C>T c.2606G>A (p.Gly869Glu) c.2249G>A (p.Gly750Glu) | COSMIC COSMIC |
2 | g.166272759del | CA1304962856 | SCN1A-AS1,SCN9A | c.2993del (p.Gly998GlufsTer2) c.2960del (p.Gly987GlufsTer2) c.1877-259del n.870-4329del c.2606del (p.Gly869GlufsTer2) c.2249del (p.Gly750GlufsTer2) | dbSNP gnomAD v4 |
2 | g.166272758C>A | CA349074553 | SCN1A-AS1,SCN9A | c.2992G>T (p.Gly998Ter) c.2959G>T (p.Gly987Ter) c.1877-260G>T n.870-4330C>A c.2605G>T (p.Gly869Ter) c.2248G>T (p.Gly750Ter) | dbSNP gnomAD v4 |
2 | g.166272758C= | CA1304962857 | SCN1A-AS1,SCN9A | c.2992G= (p.Gly998=) c.2959G= (p.Gly987=) c.1877-260G= n.870-4330C= c.2605G= (p.Gly869=) c.2248G= (p.Gly750=) | |
2 | g.166272758C>G | CA349074554 | SCN1A-AS1,SCN9A | c.2992G>C (p.Gly998Arg) c.2959G>C (p.Gly987Arg) c.1877-260G>C n.870-4330C>G c.2605G>C (p.Gly869Arg) c.2248G>C (p.Gly750Arg) | |
2 | g.166272758C>T | CA349074551 | SCN1A-AS1,SCN9A | c.2992G>A (p.Gly998Arg) c.2959G>A (p.Gly987Arg) c.1877-260G>A n.870-4330C>T c.2605G>A (p.Gly869Arg) c.2248G>A (p.Gly750Arg) | gnomAD v4 COSMIC COSMIC |
2 | g.166272759C>A | CA1944158 | SCN1A-AS1,SCN9A | c.2991G>T (p.Lys997Asn) c.2958G>T (p.Lys986Asn) c.1877-261G>T n.870-4329C>A c.2604G>T (p.Lys868Asn) c.2247G>T (p.Lys749Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272759C= | CA1304962858 | SCN1A-AS1,SCN9A | c.2991G= (p.Lys997=) c.2958G= (p.Lys986=) c.1877-261G= n.870-4329C= c.2604G= (p.Lys868=) c.2247G= (p.Lys749=) | |
2 | g.166272759C>G | CA349074557 | SCN1A-AS1,SCN9A | c.2991G>C (p.Lys997Asn) c.2958G>C (p.Lys986Asn) c.1877-261G>C n.870-4329C>G c.2604G>C (p.Lys868Asn) c.2247G>C (p.Lys749Asn) | ClinVar |
2 | g.166272759C>T | CA429978049 | SCN1A-AS1,SCN9A | c.2991G>A (p.Lys997=) c.2958G>A (p.Lys986=) c.1877-261G>A n.870-4329C>T c.2604G>A (p.Lys868=) c.2247G>A (p.Lys749=) | gnomAD v4 |
2 | g.166272760T>A | CA349074559 | SCN1A-AS1,SCN9A | c.2990A>T (p.Lys997Met) c.2957A>T (p.Lys986Met) c.1877-262A>T n.870-4328T>A c.2603A>T (p.Lys868Met) c.2246A>T (p.Lys749Met) | |
2 | g.166272760T>C | CA349074560 | SCN1A-AS1,SCN9A | c.2990A>G (p.Lys997Arg) c.2957A>G (p.Lys986Arg) c.1877-262A>G n.870-4328T>C c.2603A>G (p.Lys868Arg) c.2246A>G (p.Lys749Arg) | |
2 | g.166272760T>G | CA349074561 | SCN1A-AS1,SCN9A | c.2990A>C (p.Lys997Thr) c.2957A>C (p.Lys986Thr) c.1877-262A>C n.870-4328T>G c.2603A>C (p.Lys868Thr) c.2246A>C (p.Lys749Thr) | |
2 | g.166272764del | CA2661766691 | SCN1A-AS1,SCN9A | c.2990del (p.Lys997ArgfsTer3) c.2957del (p.Lys986ArgfsTer3) c.1877-262del n.870-4324del c.2603del (p.Lys868ArgfsTer3) c.2246del (p.Lys749ArgfsTer3) | gnomAD v4 |
2 | g.166272761T>A | CA349074563 | SCN1A-AS1,SCN9A | c.2989A>T (p.Lys997Ter) c.2956A>T (p.Lys986Ter) c.1877-263A>T n.870-4327T>A c.2602A>T (p.Lys868Ter) c.2245A>T (p.Lys749Ter) | dbSNP |
2 | g.166272761T>C | CA349074564 | SCN1A-AS1,SCN9A | c.2989A>G (p.Lys997Glu) c.2956A>G (p.Lys986Glu) c.1877-263A>G n.870-4327T>C c.2602A>G (p.Lys868Glu) c.2245A>G (p.Lys749Glu) | |
2 | g.166272761T>G | CA349074566 | SCN1A-AS1,SCN9A | c.2989A>C (p.Lys997Gln) c.2956A>C (p.Lys986Gln) c.1877-263A>C n.870-4327T>G c.2602A>C (p.Lys868Gln) c.2245A>C (p.Lys749Gln) | |
2 | g.166272761T= | CA1304962859 | SCN1A-AS1,SCN9A | c.2989A= (p.Lys997=) c.2956A= (p.Lys986=) c.1877-263A= n.870-4327T= c.2602A= (p.Lys868=) c.2245A= (p.Lys749=) | |
2 | g.166272762T>A | CA349074570 | SCN1A-AS1,SCN9A | c.2988A>T (p.Lys996Asn) c.2955A>T (p.Lys985Asn) c.1877-264A>T n.870-4326T>A c.2601A>T (p.Lys867Asn) c.2244A>T (p.Lys748Asn) | |
2 | g.166272762T>C | CA429978050 | SCN1A-AS1,SCN9A | c.2988A>G (p.Lys996=) c.2955A>G (p.Lys985=) c.1877-264A>G n.870-4326T>C c.2601A>G (p.Lys867=) c.2244A>G (p.Lys748=) | |
2 | g.166272762T>G | CA349074572 | SCN1A-AS1,SCN9A | c.2988A>C (p.Lys996Asn) c.2955A>C (p.Lys985Asn) c.1877-264A>C n.870-4326T>G c.2601A>C (p.Lys867Asn) c.2244A>C (p.Lys748Asn) | |
2 | g.166272763T>A | CA349074574 | SCN1A-AS1,SCN9A | c.2987A>T (p.Lys996Ile) c.2954A>T (p.Lys985Ile) c.1877-265A>T n.870-4325T>A c.2600A>T (p.Lys867Ile) c.2243A>T (p.Lys748Ile) | |
2 | g.166272763T>C | CA349074576 | SCN1A-AS1,SCN9A | c.2987A>G (p.Lys996Arg) c.2954A>G (p.Lys985Arg) c.1877-265A>G n.870-4325T>C c.2600A>G (p.Lys867Arg) c.2243A>G (p.Lys748Arg) | |
2 | g.166272763T>G | CA349074578 | SCN1A-AS1,SCN9A | c.2987A>C (p.Lys996Thr) c.2954A>C (p.Lys985Thr) c.1877-265A>C n.870-4325T>G c.2600A>C (p.Lys867Thr) c.2243A>C (p.Lys748Thr) | |
2 | g.166272763T= | CA1304962860 | SCN1A-AS1,SCN9A | c.2987A= (p.Lys996=) c.2954A= (p.Lys985=) c.1877-265A= n.870-4325T= c.2600A= (p.Lys867=) c.2243A= (p.Lys748=) | |
2 | g.166272763_166272764insC | CA59791796 | SCN1A-AS1,SCN9A | c.2986_2987insG (p.Lys996ArgfsTer13) c.2953_2954insG (p.Lys985ArgfsTer13) c.1877-266_1877-265insG n.870-4325_870-4324insC c.2599_2600insG (p.Lys867ArgfsTer13) c.2242_2243insG (p.Lys748ArgfsTer13) | dbSNP |
2 | g.166272764T>A | CA349074582 | SCN1A-AS1,SCN9A | c.2986A>T (p.Lys996Ter) c.2953A>T (p.Lys985Ter) c.1877-266A>T n.870-4324T>A c.2599A>T (p.Lys867Ter) c.2242A>T (p.Lys748Ter) | dbSNP |
2 | g.166272764T>C | CA349074584 | SCN1A-AS1,SCN9A | c.2986A>G (p.Lys996Glu) c.2953A>G (p.Lys985Glu) c.1877-266A>G n.870-4324T>C c.2599A>G (p.Lys867Glu) c.2242A>G (p.Lys748Glu) | |
2 | g.166272764T>G | CA349074581 | SCN1A-AS1,SCN9A | c.2986A>C (p.Lys996Gln) c.2953A>C (p.Lys985Gln) c.1877-266A>C n.870-4324T>G c.2599A>C (p.Lys867Gln) c.2242A>C (p.Lys748Gln) | |
2 | g.166272764T= | CA1304962861 | SCN1A-AS1,SCN9A | c.2986A= (p.Lys996=) c.2953A= (p.Lys985=) c.1877-266A= n.870-4324T= c.2599A= (p.Lys867=) c.2242A= (p.Lys748=) | |
2 | g.166272765A>C | CA349074588 | SCN1A-AS1,SCN9A | c.2985T>G (p.Ile995Met) c.2952T>G (p.Ile984Met) c.1877-267T>G n.870-4323A>C c.2598T>G (p.Ile866Met) c.2241T>G (p.Ile747Met) | |
2 | g.166272765A>G | CA429978052 | SCN1A-AS1,SCN9A | c.2985T>C (p.Ile995=) c.2952T>C (p.Ile984=) c.1877-267T>C n.870-4323A>G c.2598T>C (p.Ile866=) c.2241T>C (p.Ile747=) | |
2 | g.166272765A>T | CA429978053 | SCN1A-AS1,SCN9A | c.2985T>A (p.Ile995=) c.2952T>A (p.Ile984=) c.1877-267T>A n.870-4323A>T c.2598T>A (p.Ile866=) c.2241T>A (p.Ile747=) | |
2 | g.166272765_166272766delinsAA | CA1304962862 | SCN1A-AS1,SCN9A | c.2984_2985delinsTT (p.Ile995=) c.2951_2952delinsTT (p.Ile984=) c.1877-268_1877-267delinsTT n.870-4323_870-4322delinsAA c.2597_2598delinsTT (p.Ile866=) c.2240_2241delinsTT (p.Ile747=) | |
2 | g.166272765_166272766insG | CA2499215220 | SCN1A-AS1,SCN9A | c.2984_2985insC (p.Lys996Ter) c.2951_2952insC (p.Lys985Ter) c.1877-268_1877-267insC n.870-4323_870-4322insG c.2597_2598insC (p.Lys867Ter) c.2240_2241insC (p.Lys748Ter) | ClinVar dbSNP |
2 | g.166272766A>C | CA349074590 | SCN1A-AS1,SCN9A | c.2984T>G (p.Ile995Ser) c.2951T>G (p.Ile984Ser) c.1877-268T>G n.870-4322A>C c.2597T>G (p.Ile866Ser) c.2240T>G (p.Ile747Ser) | |
2 | g.166272766A>G | CA349074592 | SCN1A-AS1,SCN9A | c.2984T>C (p.Ile995Thr) c.2951T>C (p.Ile984Thr) c.1877-268T>C n.870-4322A>G c.2597T>C (p.Ile866Thr) c.2240T>C (p.Ile747Thr) | |
2 | g.166272766A>T | CA349074594 | SCN1A-AS1,SCN9A | c.2984T>A (p.Ile995Asn) c.2951T>A (p.Ile984Asn) c.1877-268T>A n.870-4322A>T c.2597T>A (p.Ile866Asn) c.2240T>A (p.Ile747Asn) | |
2 | g.166272766delinsGG | CA915942953 | SCN1A-AS1,SCN9A | c.2984delinsCC (p.Ile995ThrfsTer2) c.2951delinsCC (p.Ile984ThrfsTer2) c.1877-268delinsCC n.870-4322delinsGG c.2597delinsCC (p.Ile866ThrfsTer2) c.2240delinsCC (p.Ile747ThrfsTer2) | ClinVar dbSNP |
2 | g.166272767T>A | CA349074597 | SCN1A-AS1,SCN9A | c.2983A>T (p.Ile995Phe) c.2950A>T (p.Ile984Phe) c.1877-269A>T n.870-4321T>A c.2596A>T (p.Ile866Phe) c.2239A>T (p.Ile747Phe) | |
2 | g.166272767T>C | CA349074598 | SCN1A-AS1,SCN9A | c.2983A>G (p.Ile995Val) c.2950A>G (p.Ile984Val) c.1877-269A>G n.870-4321T>C c.2596A>G (p.Ile866Val) c.2239A>G (p.Ile747Val) | |
2 | g.166272767T>G | CA349074600 | SCN1A-AS1,SCN9A | c.2983A>C (p.Ile995Leu) c.2950A>C (p.Ile984Leu) c.1877-269A>C n.870-4321T>G c.2596A>C (p.Ile866Leu) c.2239A>C (p.Ile747Leu) | |
2 | g.166272768T>A | CA349074602 | SCN1A-AS1,SCN9A | c.2982A>T (p.Arg994Ser) c.2949A>T (p.Arg983Ser) c.1877-270A>T n.870-4320T>A c.2595A>T (p.Arg865Ser) c.2238A>T (p.Arg746Ser) | |
2 | g.166272768T>C | CA429978054 | SCN1A-AS1,SCN9A | c.2982A>G (p.Arg994=) c.2949A>G (p.Arg983=) c.1877-270A>G n.870-4320T>C c.2595A>G (p.Arg865=) c.2238A>G (p.Arg746=) | COSMIC COSMIC |
2 | g.166272768T>G | CA349074604 | SCN1A-AS1,SCN9A | c.2982A>C (p.Arg994Ser) c.2949A>C (p.Arg983Ser) c.1877-270A>C n.870-4320T>G c.2595A>C (p.Arg865Ser) c.2238A>C (p.Arg746Ser) | |
2 | g.166272769C>A | CA349074607 | SCN1A-AS1,SCN9A | c.2981G>T (p.Arg994Ile) c.2948G>T (p.Arg983Ile) c.1877-271G>T n.870-4319C>A c.2594G>T (p.Arg865Ile) c.2237G>T (p.Arg746Ile) | gnomAD v4 |
2 | g.166272769C>G | CA349074609 | SCN1A-AS1,SCN9A | c.2981G>C (p.Arg994Thr) c.2948G>C (p.Arg983Thr) c.1877-271G>C n.870-4319C>G c.2594G>C (p.Arg865Thr) c.2237G>C (p.Arg746Thr) | gnomAD v4 |
2 | g.166272769C>T | CA349074610 | SCN1A-AS1,SCN9A | c.2981G>A (p.Arg994Lys) c.2948G>A (p.Arg983Lys) c.1877-271G>A n.870-4319C>T c.2594G>A (p.Arg865Lys) c.2237G>A (p.Arg746Lys) | gnomAD v4 |
2 | g.166272770T>A | CA349074615 | SCN1A-AS1,SCN9A | c.2980A>T (p.Arg994Ter) c.2947A>T (p.Arg983Ter) c.1877-272A>T n.870-4318T>A c.2593A>T (p.Arg865Ter) c.2236A>T (p.Arg746Ter) | dbSNP |
2 | g.166272770T>C | CA349074613 | SCN1A-AS1,SCN9A | c.2980A>G (p.Arg994Gly) c.2947A>G (p.Arg983Gly) c.1877-272A>G n.870-4318T>C c.2593A>G (p.Arg865Gly) c.2236A>G (p.Arg746Gly) | COSMIC COSMIC |
2 | g.166272770T>G | CA429978055 | SCN1A-AS1,SCN9A | c.2980A>C (p.Arg994=) c.2947A>C (p.Arg983=) c.1877-272A>C n.870-4318T>G c.2593A>C (p.Arg865=) c.2236A>C (p.Arg746=) | |
2 | g.166272770T= | CA1304962863 | SCN1A-AS1,SCN9A | c.2980A= (p.Arg994=) c.2947A= (p.Arg983=) c.1877-272A= n.870-4318T= c.2593A= (p.Arg865=) c.2236A= (p.Arg746=) | |
2 | g.166272771A>C | CA429978060 | SCN1A-AS1,SCN9A | c.2979T>G (p.Thr993=) c.2946T>G (p.Thr982=) c.1877-273T>G n.870-4317A>C c.2592T>G (p.Thr864=) c.2235T>G (p.Thr745=) | |
2 | g.166272771A>G | CA429978062 | SCN1A-AS1,SCN9A | c.2979T>C (p.Thr993=) c.2946T>C (p.Thr982=) c.1877-273T>C n.870-4317A>G c.2592T>C (p.Thr864=) c.2235T>C (p.Thr745=) | |
2 | g.166272771A>T | CA429978064 | SCN1A-AS1,SCN9A | c.2979T>A (p.Thr993=) c.2946T>A (p.Thr982=) c.1877-273T>A n.870-4317A>T c.2592T>A (p.Thr864=) c.2235T>A (p.Thr745=) | |
2 | g.166272772G>A | CA349074618 | SCN1A-AS1,SCN9A | c.2978C>T (p.Thr993Ile) c.2945C>T (p.Thr982Ile) c.1877-274C>T n.870-4316G>A c.2591C>T (p.Thr864Ile) c.2234C>T (p.Thr745Ile) | |
2 | g.166272772G>C | CA349074619 | SCN1A-AS1,SCN9A | c.2978C>G (p.Thr993Ser) c.2945C>G (p.Thr982Ser) c.1877-274C>G n.870-4316G>C c.2591C>G (p.Thr864Ser) c.2234C>G (p.Thr745Ser) | |
2 | g.166272772G>T | CA349074621 | SCN1A-AS1,SCN9A | c.2978C>A (p.Thr993Asn) c.2945C>A (p.Thr982Asn) c.1877-274C>A n.870-4316G>T c.2591C>A (p.Thr864Asn) c.2234C>A (p.Thr745Asn) | |
2 | g.166272773T>A | CA349074623 | SCN1A-AS1,SCN9A | c.2977A>T (p.Thr993Ser) c.2944A>T (p.Thr982Ser) c.1877-275A>T n.870-4315T>A c.2590A>T (p.Thr864Ser) c.2233A>T (p.Thr745Ser) | |
2 | g.166272773T>C | CA349074625 | SCN1A-AS1,SCN9A | c.2977A>G (p.Thr993Ala) c.2944A>G (p.Thr982Ala) c.1877-275A>G n.870-4315T>C c.2590A>G (p.Thr864Ala) c.2233A>G (p.Thr745Ala) | |
2 | g.166272773T>G | CA349074627 | SCN1A-AS1,SCN9A | c.2977A>C (p.Thr993Pro) c.2944A>C (p.Thr982Pro) c.1877-275A>C n.870-4315T>G c.2590A>C (p.Thr864Pro) c.2233A>C (p.Thr745Pro) | gnomAD v4 |
2 | g.166272774C>A | CA429978066 | SCN1A-AS1,SCN9A | c.2976G>T (p.Val992=) c.2943G>T (p.Val981=) c.1877-276G>T n.870-4314C>A c.2589G>T (p.Val863=) c.2232G>T (p.Val744=) | |
2 | g.166272774C= | CA1304962864 | SCN1A-AS1,SCN9A | c.2976G= (p.Val992=) c.2943G= (p.Val981=) c.1877-276G= n.870-4314C= c.2589G= (p.Val863=) c.2232G= (p.Val744=) | |
2 | g.166272774C>G | CA429978068 | SCN1A-AS1,SCN9A | c.2976G>C (p.Val992=) c.2943G>C (p.Val981=) c.1877-276G>C n.870-4314C>G c.2589G>C (p.Val863=) c.2232G>C (p.Val744=) | |
2 | g.166272774C>T | CA429978071 | SCN1A-AS1,SCN9A | c.2976G>A (p.Val992=) c.2943G>A (p.Val981=) c.1877-276G>A n.870-4314C>T c.2589G>A (p.Val863=) c.2232G>A (p.Val744=) | dbSNP |
2 | g.166272775A= | CA1304962865 | SCN1A-AS1,SCN9A | c.2975T= (p.Val992=) c.2942T= (p.Val981=) c.1877-277T= n.870-4313A= c.2588T= (p.Val863=) c.2231T= (p.Val744=) | |
2 | g.166272775A>C | CA349074632 | SCN1A-AS1,SCN9A | c.2975T>G (p.Val992Gly) c.2942T>G (p.Val981Gly) c.1877-277T>G n.870-4313A>C c.2588T>G (p.Val863Gly) c.2231T>G (p.Val744Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.166272775A>G | CA16603954 | SCN1A-AS1,SCN9A | c.2975T>C (p.Val992Ala) c.2942T>C (p.Val981Ala) c.1877-277T>C n.870-4313A>G c.2588T>C (p.Val863Ala) c.2231T>C (p.Val744Ala) | ClinVar dbSNP |
2 | g.166272775A>T | CA349074629 | SCN1A-AS1,SCN9A | c.2975T>A (p.Val992Glu) c.2942T>A (p.Val981Glu) c.1877-277T>A n.870-4313A>T c.2588T>A (p.Val863Glu) c.2231T>A (p.Val744Glu) | gnomAD v4 |
2 | g.166272776C>A | CA349074633 | SCN1A-AS1,SCN9A | c.2974G>T (p.Val992Leu) c.2941G>T (p.Val981Leu) c.1877-278G>T n.870-4312C>A c.2587G>T (p.Val863Leu) c.2230G>T (p.Val744Leu) | gnomAD v4 |
2 | g.166272776C>G | CA349074635 | SCN1A-AS1,SCN9A | c.2974G>C (p.Val992Leu) c.2941G>C (p.Val981Leu) c.1877-278G>C n.870-4312C>G c.2587G>C (p.Val863Leu) c.2230G>C (p.Val744Leu) | |
2 | g.166272776C>T | CA349074636 | SCN1A-AS1,SCN9A | c.2974G>A (p.Val992Met) c.2941G>A (p.Val981Met) c.1877-278G>A n.870-4312C>T c.2587G>A (p.Val863Met) c.2230G>A (p.Val744Met) | gnomAD v4 |
2 | g.166272777T>A | CA429978075 | SCN1A-AS1,SCN9A | c.2973A>T (p.Ala991=) c.2940A>T (p.Ala980=) c.1877-279A>T n.870-4311T>A c.2586A>T (p.Ala862=) c.2229A>T (p.Ala743=) | |
2 | g.166272777T>C | CA429978076 | SCN1A-AS1,SCN9A | c.2973A>G (p.Ala991=) c.2940A>G (p.Ala980=) c.1877-279A>G n.870-4311T>C c.2586A>G (p.Ala862=) c.2229A>G (p.Ala743=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272777T>G | CA429978077 | SCN1A-AS1,SCN9A | c.2973A>C (p.Ala991=) c.2940A>C (p.Ala980=) c.1877-279A>C n.870-4311T>G c.2586A>C (p.Ala862=) c.2229A>C (p.Ala743=) | |
2 | g.166272777T= | CA1304962866 | SCN1A-AS1,SCN9A | c.2973A= (p.Ala991=) c.2940A= (p.Ala980=) c.1877-279A= n.870-4311T= c.2586A= (p.Ala862=) c.2229A= (p.Ala743=) | |
2 | g.166272778G>A | CA349074637 | SCN1A-AS1,SCN9A | c.2972C>T (p.Ala991Val) c.2939C>T (p.Ala980Val) c.1877-280C>T n.870-4310G>A c.2585C>T (p.Ala862Val) c.2228C>T (p.Ala743Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272778G>C | CA349074638 | SCN1A-AS1,SCN9A | c.2972C>G (p.Ala991Gly) c.2939C>G (p.Ala980Gly) c.1877-280C>G n.870-4310G>C c.2585C>G (p.Ala862Gly) c.2228C>G (p.Ala743Gly) | |
2 | g.166272778G= | CA1304962867 | SCN1A-AS1,SCN9A | c.2972C= (p.Ala991=) c.2939C= (p.Ala980=) c.1877-280C= n.870-4310G= c.2585C= (p.Ala862=) c.2228C= (p.Ala743=) | |
2 | g.166272778G>T | CA349074640 | SCN1A-AS1,SCN9A | c.2972C>A (p.Ala991Glu) c.2939C>A (p.Ala980Glu) c.1877-280C>A n.870-4310G>T c.2585C>A (p.Ala862Glu) c.2228C>A (p.Ala743Glu) | |
2 | g.166272779C>A | CA349074642 | SCN1A-AS1,SCN9A | c.2971G>T (p.Ala991Ser) c.2938G>T (p.Ala980Ser) c.1877-281G>T n.870-4309C>A c.2584G>T (p.Ala862Ser) c.2227G>T (p.Ala743Ser) | gnomAD v4 |
2 | g.166272779C>G | CA349074646 | SCN1A-AS1,SCN9A | c.2971G>C (p.Ala991Pro) c.2938G>C (p.Ala980Pro) c.1877-281G>C n.870-4309C>G c.2584G>C (p.Ala862Pro) c.2227G>C (p.Ala743Pro) | |
2 | g.166272779C>T | CA349074644 | SCN1A-AS1,SCN9A | c.2971G>A (p.Ala991Thr) c.2938G>A (p.Ala980Thr) c.1877-281G>A n.870-4309C>T c.2584G>A (p.Ala862Thr) c.2227G>A (p.Ala743Thr) | |
2 | g.166272780A>C | CA349074648 | SCN1A-AS1,SCN9A | c.2970T>G (p.Ile990Met) c.2937T>G (p.Ile979Met) c.1877-282T>G n.870-4308A>C c.2583T>G (p.Ile861Met) c.2226T>G (p.Ile742Met) | |
2 | g.166272780A>G | CA429978082 | SCN1A-AS1,SCN9A | c.2970T>C (p.Ile990=) c.2937T>C (p.Ile979=) c.1877-282T>C n.870-4308A>G c.2583T>C (p.Ile861=) c.2226T>C (p.Ile742=) | gnomAD v4 |
2 | g.166272780A>T | CA429978083 | SCN1A-AS1,SCN9A | c.2970T>A (p.Ile990=) c.2937T>A (p.Ile979=) c.1877-282T>A n.870-4308A>T c.2583T>A (p.Ile861=) c.2226T>A (p.Ile742=) | gnomAD v4 |
2 | g.166272781del | CA2586970692 | SCN1A-AS1,SCN9A | c.2970del (p.Ile990MetfsTer3) c.2937del (p.Ile979MetfsTer3) c.1877-282del n.870-4307del c.2583del (p.Ile861MetfsTer3) c.2226del (p.Ile742MetfsTer3) | gnomAD v4 |
2 | g.166272781A>C | CA349074650 | SCN1A-AS1,SCN9A | c.2969T>G (p.Ile990Ser) c.2936T>G (p.Ile979Ser) c.1877-283T>G n.870-4307A>C c.2582T>G (p.Ile861Ser) c.2225T>G (p.Ile742Ser) | |
2 | g.166272781A>G | CA349074652 | SCN1A-AS1,SCN9A | c.2969T>C (p.Ile990Thr) c.2936T>C (p.Ile979Thr) c.1877-283T>C n.870-4307A>G c.2582T>C (p.Ile861Thr) c.2225T>C (p.Ile742Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.166272781A>T | CA349074653 | SCN1A-AS1,SCN9A | c.2969T>A (p.Ile990Asn) c.2936T>A (p.Ile979Asn) c.1877-283T>A n.870-4307A>T c.2582T>A (p.Ile861Asn) c.2225T>A (p.Ile742Asn) | ClinVar |
2 | g.166272782T>A | CA349074655 | SCN1A-AS1,SCN9A | c.2968A>T (p.Ile990Phe) c.2935A>T (p.Ile979Phe) c.1877-284A>T n.870-4306T>A c.2581A>T (p.Ile861Phe) c.2224A>T (p.Ile742Phe) | |
2 | g.166272782T>C | CA349074657 | SCN1A-AS1,SCN9A | c.2968A>G (p.Ile990Val) c.2935A>G (p.Ile979Val) c.1877-284A>G n.870-4306T>C c.2581A>G (p.Ile861Val) c.2224A>G (p.Ile742Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272782T>G | CA349074658 | SCN1A-AS1,SCN9A | c.2968A>C (p.Ile990Leu) c.2935A>C (p.Ile979Leu) c.1877-284A>C n.870-4306T>G c.2581A>C (p.Ile861Leu) c.2224A>C (p.Ile742Leu) | |
2 | g.166272782T= | CA1304962868 | SCN1A-AS1,SCN9A | c.2968A= (p.Ile990=) c.2935A= (p.Ile979=) c.1877-284A= n.870-4306T= c.2581A= (p.Ile861=) c.2224A= (p.Ile742=) | |
2 | g.166272783C>A | CA349074661 | SCN1A-AS1,SCN9A | c.2967G>T (p.Gln989His) c.2934G>T (p.Gln978His) c.1877-285G>T n.870-4305C>A c.2580G>T (p.Gln860His) c.2223G>T (p.Gln741His) | gnomAD v4 |
2 | g.166272783C>G | CA349074662 | SCN1A-AS1,SCN9A | c.2967G>C (p.Gln989His) c.2934G>C (p.Gln978His) c.1877-285G>C n.870-4305C>G c.2580G>C (p.Gln860His) c.2223G>C (p.Gln741His) | |
2 | g.166272783C>T | CA429978086 | SCN1A-AS1,SCN9A | c.2967G>A (p.Gln989=) c.2934G>A (p.Gln978=) c.1877-285G>A n.870-4305C>T c.2580G>A (p.Gln860=) c.2223G>A (p.Gln741=) | |
2 | g.166272784T>A | CA349074664 | SCN1A-AS1,SCN9A | c.2966A>T (p.Gln989Leu) c.2933A>T (p.Gln978Leu) c.1877-286A>T n.870-4304T>A c.2579A>T (p.Gln860Leu) c.2222A>T (p.Gln741Leu) | |
2 | g.166272784T>C | CA349074667 | SCN1A-AS1,SCN9A | c.2966A>G (p.Gln989Arg) c.2933A>G (p.Gln978Arg) c.1877-286A>G n.870-4304T>C c.2579A>G (p.Gln860Arg) c.2222A>G (p.Gln741Arg) | ClinVar dbSNP |
2 | g.166272784T>G | CA349074669 | SCN1A-AS1,SCN9A | c.2966A>C (p.Gln989Pro) c.2933A>C (p.Gln978Pro) c.1877-286A>C n.870-4304T>G c.2579A>C (p.Gln860Pro) c.2222A>C (p.Gln741Pro) | |
2 | g.166272784T= | CA1304962869 | SCN1A-AS1,SCN9A | c.2966A= (p.Gln989=) c.2933A= (p.Gln978=) c.1877-286A= n.870-4304T= c.2579A= (p.Gln860=) c.2222A= (p.Gln741=) | |
2 | g.166272785G>A | CA349074675 | SCN1A-AS1,SCN9A | c.2965C>T (p.Gln989Ter) c.2932C>T (p.Gln978Ter) c.1877-287C>T n.870-4303G>A c.2578C>T (p.Gln860Ter) c.2221C>T (p.Gln741Ter) | gnomAD v4 |
2 | g.166272785G>C | CA349074671 | SCN1A-AS1,SCN9A | c.2965C>G (p.Gln989Glu) c.2932C>G (p.Gln978Glu) c.1877-287C>G n.870-4303G>C c.2578C>G (p.Gln860Glu) c.2221C>G (p.Gln741Glu) | |
2 | g.166272785G>T | CA349074673 | SCN1A-AS1,SCN9A | c.2965C>A (p.Gln989Lys) c.2932C>A (p.Gln978Lys) c.1877-287C>A n.870-4303G>T c.2578C>A (p.Gln860Lys) c.2221C>A (p.Gln741Lys) | |
2 | g.166272786G>A | CA1944159 | SCN1A-AS1,SCN9A | c.2964C>T (p.Leu988=) c.2931C>T (p.Leu977=) c.1877-288C>T n.870-4302G>A c.2577C>T (p.Leu859=) c.2220C>T (p.Leu740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272786G>C | CA429978092 | SCN1A-AS1,SCN9A | c.2964C>G (p.Leu988=) c.2931C>G (p.Leu977=) c.1877-288C>G n.870-4302G>C c.2577C>G (p.Leu859=) c.2220C>G (p.Leu740=) | |
2 | g.166272786G= | CA1304962870 | SCN1A-AS1,SCN9A | c.2964C= (p.Leu988=) c.2931C= (p.Leu977=) c.1877-288C= n.870-4302G= c.2577C= (p.Leu859=) c.2220C= (p.Leu740=) | |
2 | g.166272786G>T | CA429978094 | SCN1A-AS1,SCN9A | c.2964C>A (p.Leu988=) c.2931C>A (p.Leu977=) c.1877-288C>A n.870-4302G>T c.2577C>A (p.Leu859=) c.2220C>A (p.Leu740=) | |
2 | g.166272787A>C | CA349074679 | SCN1A-AS1,SCN9A | c.2963T>G (p.Leu988Arg) c.2930T>G (p.Leu977Arg) c.1877-289T>G n.870-4301A>C c.2576T>G (p.Leu859Arg) c.2219T>G (p.Leu740Arg) | |
2 | g.166272787A>G | CA349074680 | SCN1A-AS1,SCN9A | c.2963T>C (p.Leu988Pro) c.2930T>C (p.Leu977Pro) c.1877-289T>C n.870-4301A>G c.2576T>C (p.Leu859Pro) c.2219T>C (p.Leu740Pro) | |
2 | g.166272787A>T | CA349074682 | SCN1A-AS1,SCN9A | c.2963T>A (p.Leu988His) c.2930T>A (p.Leu977His) c.1877-289T>A n.870-4301A>T c.2576T>A (p.Leu859His) c.2219T>A (p.Leu740His) | |
2 | g.166272787_166272788delinsAG | CA1304962871 | SCN1A-AS1,SCN9A | c.2962_2963delinsCT (p.Leu988=) c.2929_2930delinsCT (p.Leu977=) c.1877-290_1877-289delinsCT n.870-4301_870-4300delinsAG c.2575_2576delinsCT (p.Leu859=) c.2218_2219delinsCT (p.Leu740=) | |
2 | g.166272788G>A | CA1944160 | SCN1A-AS1,SCN9A | c.2962C>T (p.Leu988Phe) c.2929C>T (p.Leu977Phe) c.1877-290C>T n.870-4300G>A c.2575C>T (p.Leu859Phe) c.2218C>T (p.Leu740Phe) | dbSNP ExAC gnomAD v4 |
2 | g.166272788G>C | CA349074685 | SCN1A-AS1,SCN9A | c.2962C>G (p.Leu988Val) c.2929C>G (p.Leu977Val) c.1877-290C>G n.870-4300G>C c.2575C>G (p.Leu859Val) c.2218C>G (p.Leu740Val) | |
2 | g.166272788G= | CA1304962873 | SCN1A-AS1,SCN9A | c.2962C= (p.Leu988=) c.2929C= (p.Leu977=) c.1877-290C= n.870-4300G= c.2575C= (p.Leu859=) c.2218C= (p.Leu740=) | |
2 | g.166272788G>T | CA349074687 | SCN1A-AS1,SCN9A | c.2962C>A (p.Leu988Ile) c.2929C>A (p.Leu977Ile) c.1877-290C>A n.870-4300G>T c.2575C>A (p.Leu859Ile) c.2218C>A (p.Leu740Ile) | gnomAD v4 |
2 | g.166272789del | CA1304962872 | SCN1A-AS1,SCN9A | c.2962del (p.Leu988SerfsTer5) c.2929del (p.Leu977SerfsTer5) c.1877-290del n.870-4299del c.2575del (p.Leu859SerfsTer5) c.2218del (p.Leu740SerfsTer5) | dbSNP |
2 | g.166272789G>A | CA429978099 | SCN1A-AS1,SCN9A | c.2961C>T (p.Asn987=) c.2928C>T (p.Asn976=) c.1877-291C>T n.870-4299G>A c.2574C>T (p.Asn858=) c.2217C>T (p.Asn739=) | ClinVar |
2 | g.166272789G>C | CA349074692 | SCN1A-AS1,SCN9A | c.2961C>G (p.Asn987Lys) c.2928C>G (p.Asn976Lys) c.1877-291C>G n.870-4299G>C c.2574C>G (p.Asn858Lys) c.2217C>G (p.Asn739Lys) | |
2 | g.166272789G>T | CA349074694 | SCN1A-AS1,SCN9A | c.2961C>A (p.Asn987Lys) c.2928C>A (p.Asn976Lys) c.1877-291C>A n.870-4299G>T c.2574C>A (p.Asn858Lys) c.2217C>A (p.Asn739Lys) | |
2 | g.166272790T>A | CA349074697 | SCN1A-AS1,SCN9A | c.2960A>T (p.Asn987Ile) c.2927A>T (p.Asn976Ile) c.1877-292A>T n.870-4298T>A c.2573A>T (p.Asn858Ile) c.2216A>T (p.Asn739Ile) | |
2 | g.166272790T>C | CA349074698 | SCN1A-AS1,SCN9A | c.2960A>G (p.Asn987Ser) c.2927A>G (p.Asn976Ser) c.1877-292A>G n.870-4298T>C c.2573A>G (p.Asn858Ser) c.2216A>G (p.Asn739Ser) | ClinVar dbSNP |
2 | g.166272790T>G | CA349074700 | SCN1A-AS1,SCN9A | c.2960A>C (p.Asn987Thr) c.2927A>C (p.Asn976Thr) c.1877-292A>C n.870-4298T>G c.2573A>C (p.Asn858Thr) c.2216A>C (p.Asn739Thr) | |
2 | g.166272791T>A | CA349074703 | SCN1A-AS1,SCN9A | c.2959A>T (p.Asn987Tyr) c.2926A>T (p.Asn976Tyr) c.1877-293A>T n.870-4297T>A c.2572A>T (p.Asn858Tyr) c.2215A>T (p.Asn739Tyr) | |
2 | g.166272791T>C | CA349074704 | SCN1A-AS1,SCN9A | c.2959A>G (p.Asn987Asp) c.2926A>G (p.Asn976Asp) c.1877-293A>G n.870-4297T>C c.2572A>G (p.Asn858Asp) c.2215A>G (p.Asn739Asp) | |
2 | g.166272791T>G | CA349074705 | SCN1A-AS1,SCN9A | c.2959A>C (p.Asn987His) c.2926A>C (p.Asn976His) c.1877-293A>C n.870-4297T>G c.2572A>C (p.Asn858His) c.2215A>C (p.Asn739His) | |
2 | g.166272792G>A | CA429978101 | SCN1A-AS1,SCN9A | c.2958C>T (p.Asn986=) c.2925C>T (p.Asn975=) c.1877-294C>T n.870-4296G>A c.2571C>T (p.Asn857=) c.2214C>T (p.Asn738=) | |
2 | g.166272792G>C | CA349074707 | SCN1A-AS1,SCN9A | c.2958C>G (p.Asn986Lys) c.2925C>G (p.Asn975Lys) c.1877-294C>G n.870-4296G>C c.2571C>G (p.Asn857Lys) c.2214C>G (p.Asn738Lys) | |
2 | g.166272792G>T | CA349074709 | SCN1A-AS1,SCN9A | c.2958C>A (p.Asn986Lys) c.2925C>A (p.Asn975Lys) c.1877-294C>A n.870-4296G>T c.2571C>A (p.Asn857Lys) c.2214C>A (p.Asn738Lys) | gnomAD v4 COSMIC COSMIC |