Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166251769T>A | CA429902442 | SCN1A-AS1,SCN9A | c.3468A>T (p.Thr1156=) c.550A>T (n.550A>T) c.3435A>T (p.Thr1145=) c.2093A>T n.736-10T>A c.3081A>T (p.Thr1027=) c.2724A>T (p.Thr908=) | |
2 | g.166251769T>C | CA429902444 | SCN1A-AS1,SCN9A | c.3468A>G (p.Thr1156=) c.550A>G (n.550A>G) c.3435A>G (p.Thr1145=) c.2093A>G n.736-10T>C c.3081A>G (p.Thr1027=) c.2724A>G (p.Thr908=) | |
2 | g.166251769T>G | CA429902445 | SCN1A-AS1,SCN9A | c.3468A>C (p.Thr1156=) c.550A>C (n.550A>C) c.3435A>C (p.Thr1145=) c.2093A>C n.736-10T>G c.3081A>C (p.Thr1027=) c.2724A>C (p.Thr908=) | |
2 | g.166251770G>A | CA1944054 | SCN1A-AS1,SCN9A | c.3467C>T (p.Thr1156Ile) c.549C>T (n.549C>T) c.3434C>T (p.Thr1145Ile) c.2092C>T n.736-9G>A c.3080C>T (p.Thr1027Ile) c.2723C>T (p.Thr908Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166251770G>C | CA349071720 | SCN1A-AS1,SCN9A | c.3467C>G (p.Thr1156Arg) c.549C>G (n.549C>G) c.3434C>G (p.Thr1145Arg) c.2092C>G n.736-9G>C c.3080C>G (p.Thr1027Arg) c.2723C>G (p.Thr908Arg) | |
2 | g.166251770G= | CA1304953772 | SCN1A-AS1,SCN9A | c.3467C= (p.Thr1156=) c.549C= (n.549C=) c.3434C= (p.Thr1145=) c.2092C= n.736-9G= c.3080C= (p.Thr1027=) c.2723C= (p.Thr908=) | |
2 | g.166251770G>T | CA349071722 | SCN1A-AS1,SCN9A | c.3467C>A (p.Thr1156Lys) c.549C>A (n.549C>A) c.3434C>A (p.Thr1145Lys) c.2092C>A n.736-9G>T c.3080C>A (p.Thr1027Lys) c.2723C>A (p.Thr908Lys) | dbSNP |
2 | g.166251771T>A | CA349071725 | SCN1A-AS1,SCN9A | c.3466A>T (p.Thr1156Ser) c.548A>T (n.548A>T) c.3433A>T (p.Thr1145Ser) c.2091A>T n.736-8T>A c.3079A>T (p.Thr1027Ser) c.2722A>T (p.Thr908Ser) | |
2 | g.166251771T>C | CA349071727 | SCN1A-AS1,SCN9A | c.3466A>G (p.Thr1156Ala) c.548A>G (n.548A>G) c.3433A>G (p.Thr1145Ala) c.2091A>G n.736-8T>C c.3079A>G (p.Thr1027Ala) c.2722A>G (p.Thr908Ala) | |
2 | g.166251771T>G | CA349071729 | SCN1A-AS1,SCN9A | c.3466A>C (p.Thr1156Pro) c.548A>C (n.548A>C) c.3433A>C (p.Thr1145Pro) c.2091A>C n.736-8T>G c.3079A>C (p.Thr1027Pro) c.2722A>C (p.Thr908Pro) | |
2 | g.166251772G>A | CA429902452 | SCN1A-AS1,SCN9A | c.3465C>T (p.Phe1155=) c.547C>T (n.547C>T) c.3432C>T (p.Phe1144=) c.2090C>T n.736-7G>A c.3078C>T (p.Phe1026=) c.2721C>T (p.Phe907=) | |
2 | g.166251772G>C | CA349071730 | SCN1A-AS1,SCN9A | c.3465C>G (p.Phe1155Leu) c.547C>G (n.547C>G) c.3432C>G (p.Phe1144Leu) c.2090C>G n.736-7G>C c.3078C>G (p.Phe1026Leu) c.2721C>G (p.Phe907Leu) | |
2 | g.166251772G>T | CA349071733 | SCN1A-AS1,SCN9A | c.3465C>A (p.Phe1155Leu) c.547C>A (n.547C>A) c.3432C>A (p.Phe1144Leu) c.2090C>A n.736-7G>T c.3078C>A (p.Phe1026Leu) c.2721C>A (p.Phe907Leu) | |
2 | g.166251773A= | CA1304953773 | SCN1A-AS1,SCN9A | c.3464T= (p.Phe1155=) c.546T= (n.546T=) c.3431T= (p.Phe1144=) c.2089T= n.736-6A= c.3077T= (p.Phe1026=) c.2720T= (p.Phe907=) | |
2 | g.166251773A>C | CA349071734 | SCN1A-AS1,SCN9A | c.3464T>G (p.Phe1155Cys) c.546T>G (n.546T>G) c.3431T>G (p.Phe1144Cys) c.2089T>G n.736-6A>C c.3077T>G (p.Phe1026Cys) c.2720T>G (p.Phe907Cys) | ClinVar |
2 | g.166251773A>G | CA349071735 | SCN1A-AS1,SCN9A | c.3464T>C (p.Phe1155Ser) c.546T>C (n.546T>C) c.3431T>C (p.Phe1144Ser) c.2089T>C n.736-6A>G c.3077T>C (p.Phe1026Ser) c.2720T>C (p.Phe907Ser) | |
2 | g.166251773A>T | CA1944055 | SCN1A-AS1,SCN9A | c.3464T>A (p.Phe1155Tyr) c.546T>A (n.546T>A) c.3431T>A (p.Phe1144Tyr) c.2089T>A n.736-6A>T c.3077T>A (p.Phe1026Tyr) c.2720T>A (p.Phe907Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166251774A>C | CA349071736 | SCN1A-AS1,SCN9A | c.3463T>G (p.Phe1155Val) c.545T>G (n.545T>G) c.3430T>G (p.Phe1144Val) c.2088T>G n.736-5A>C c.3076T>G (p.Phe1026Val) c.2719T>G (p.Phe907Val) | |
2 | g.166251774A>G | CA349071737 | SCN1A-AS1,SCN9A | c.3463T>C (p.Phe1155Leu) c.545T>C (n.545T>C) c.3430T>C (p.Phe1144Leu) c.2088T>C n.736-5A>G c.3076T>C (p.Phe1026Leu) c.2719T>C (p.Phe907Leu) | |
2 | g.166251774A>T | CA349071738 | SCN1A-AS1,SCN9A | c.3463T>A (p.Phe1155Ile) c.545T>A (n.545T>A) c.3430T>A (p.Phe1144Ile) c.2088T>A n.736-5A>T c.3076T>A (p.Phe1026Ile) c.2719T>A (p.Phe907Ile) | |
2 | g.166251775A>C | CA349071740 | SCN1A-AS1,SCN9A | c.3462T>G (p.Cys1154Trp) c.544T>G (n.544T>G) c.3429T>G (p.Cys1143Trp) c.2087T>G n.736-4A>C c.3075T>G (p.Cys1025Trp) c.2718T>G (p.Cys906Trp) | |
2 | g.166251775A>G | CA429902458 | SCN1A-AS1,SCN9A | c.3462T>C (p.Cys1154=) c.544T>C (n.544T>C) c.3429T>C (p.Cys1143=) c.2087T>C n.736-4A>G c.3075T>C (p.Cys1025=) c.2718T>C (p.Cys906=) | |
2 | g.166251775A>T | CA349071742 | SCN1A-AS1,SCN9A | c.3462T>A (p.Cys1154Ter) c.544T>A (n.544T>A) c.3429T>A (p.Cys1143Ter) c.2087T>A n.736-4A>T c.3075T>A (p.Cys1025Ter) c.2718T>A (p.Cys906Ter) | |
2 | g.166251776C>A | CA1944056 | SCN1A-AS1,SCN9A | c.3461G>T (p.Cys1154Phe) c.543G>T (n.543G>T) c.3428G>T (p.Cys1143Phe) c.2086G>T n.736-3C>A c.3074G>T (p.Cys1025Phe) c.2717G>T (p.Cys906Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166251776C= | CA1304953774 | SCN1A-AS1,SCN9A | c.3461G= (p.Cys1154=) c.543G= (n.543G=) c.3428G= (p.Cys1143=) c.2086G= n.736-3C= c.3074G= (p.Cys1025=) c.2717G= (p.Cys906=) | |
2 | g.166251776C>G | CA349071746 | SCN1A-AS1,SCN9A | c.3461G>C (p.Cys1154Ser) c.543G>C (n.543G>C) c.3428G>C (p.Cys1143Ser) c.2086G>C n.736-3C>G c.3074G>C (p.Cys1025Ser) c.2717G>C (p.Cys906Ser) | gnomAD v3 gnomAD v4 |
2 | g.166251776C>T | CA349071744 | SCN1A-AS1,SCN9A | c.3461G>A (p.Cys1154Tyr) c.543G>A (n.543G>A) c.3428G>A (p.Cys1143Tyr) c.2086G>A n.736-3C>T c.3074G>A (p.Cys1025Tyr) c.2717G>A (p.Cys906Tyr) | |
2 | g.166251777A= | CA1304953775 | SCN1A-AS1,SCN9A | c.3460T= (p.Cys1154=) c.542T= (n.542T=) c.3427T= (p.Cys1143=) c.2085T= n.736-2A= c.3073T= (p.Cys1025=) c.2716T= (p.Cys906=) | |
2 | g.166251777A>C | CA349071750 | SCN1A-AS1,SCN9A | c.3460T>G (p.Cys1154Gly) c.542T>G (n.542T>G) c.3427T>G (p.Cys1143Gly) c.2085T>G n.736-2A>C c.3073T>G (p.Cys1025Gly) c.2716T>G (p.Cys906Gly) | |
2 | g.166251777A>G | CA349071751 | SCN1A-AS1,SCN9A | c.3460T>C (p.Cys1154Arg) c.542T>C (n.542T>C) c.3427T>C (p.Cys1143Arg) c.2085T>C n.736-2A>G c.3073T>C (p.Cys1025Arg) c.2716T>C (p.Cys906Arg) | ClinVar dbSNP |
2 | g.166251777A>T | CA349071757 | SCN1A-AS1,SCN9A | c.3460T>A (p.Cys1154Ser) c.542T>A (n.542T>A) c.3427T>A (p.Cys1143Ser) c.2085T>A n.736-2A>T c.3073T>A (p.Cys1025Ser) c.2716T>A (p.Cys906Ser) | |
2 | g.166251778G>A | CA429902459 | SCN1A-AS1,SCN9A | c.3459C>T (p.Ala1153=) c.541C>T (n.541C>T) c.3426C>T (p.Ala1142=) c.2084C>T n.736-1G>A c.3072C>T (p.Ala1024=) c.2715C>T (p.Ala905=) | |
2 | g.166251778G>C | CA429902462 | SCN1A-AS1,SCN9A | c.3459C>G (p.Ala1153=) c.541C>G (n.541C>G) c.3426C>G (p.Ala1142=) c.2084C>G n.736-1G>C c.3072C>G (p.Ala1024=) c.2715C>G (p.Ala905=) | |
2 | g.166251778G>T | CA429902463 | SCN1A-AS1,SCN9A | c.3459C>A (p.Ala1153=) c.541C>A (n.541C>A) c.3426C>A (p.Ala1142=) c.2084C>A n.736-1G>T c.3072C>A (p.Ala1024=) c.2715C>A (p.Ala905=) | |
2 | g.166251779G>A | CA349071758 | SCN1A-AS1,SCN9A | c.3458C>T (p.Ala1153Val) c.540C>T (n.540C>T) c.3425C>T (p.Ala1142Val) c.2083C>T n.736G>A c.3071C>T (p.Ala1024Val) c.2714C>T (p.Ala905Val) | gnomAD v4 |
2 | g.166251779G>C | CA349071771 | SCN1A-AS1,SCN9A | c.3458C>G (p.Ala1153Gly) c.540C>G (n.540C>G) c.3425C>G (p.Ala1142Gly) c.2083C>G n.736G>C c.3071C>G (p.Ala1024Gly) c.2714C>G (p.Ala905Gly) | |
2 | g.166251779G>T | CA349071774 | SCN1A-AS1,SCN9A | c.3458C>A (p.Ala1153Asp) c.540C>A (n.540C>A) c.3425C>A (p.Ala1142Asp) c.2083C>A n.736G>T c.3071C>A (p.Ala1024Asp) c.2714C>A (p.Ala905Asp) | |
2 | g.166251780C>A | CA349071782 | SCN1A-AS1,SCN9A | c.3457G>T (p.Ala1153Ser) c.539G>T (n.539G>T) c.3424G>T (p.Ala1142Ser) c.2082G>T n.737C>A c.3070G>T (p.Ala1024Ser) c.2713G>T (p.Ala905Ser) | |
2 | g.166251780C= | CA1304953776 | SCN1A-AS1,SCN9A | c.3457G= (p.Ala1153=) c.539G= (n.539G=) c.3424G= (p.Ala1142=) c.2082G= n.737C= c.3070G= (p.Ala1024=) c.2713G= (p.Ala905=) | |
2 | g.166251780C>G | CA349071785 | SCN1A-AS1,SCN9A | c.3457G>C (p.Ala1153Pro) c.539G>C (n.539G>C) c.3424G>C (p.Ala1142Pro) c.2082G>C n.737C>G c.3070G>C (p.Ala1024Pro) c.2713G>C (p.Ala905Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166251780C>T | CA349071783 | SCN1A-AS1,SCN9A | c.3457G>A (p.Ala1153Thr) c.539G>A (n.539G>A) c.3424G>A (p.Ala1142Thr) c.2082G>A n.737C>T c.3070G>A (p.Ala1024Thr) c.2713G>A (p.Ala905Thr) | dbSNP gnomAD v2 |
2 | g.166251781C>A | CA349071795 | SCN1A-AS1,SCN9A | c.3456G>T (p.Glu1152Asp) c.538G>T (n.538G>T) c.3423G>T (p.Glu1141Asp) c.2081G>T n.738C>A c.3069G>T (p.Glu1023Asp) c.2712G>T (p.Glu904Asp) | |
2 | g.166251781C= | CA1304953777 | SCN1A-AS1,SCN9A | c.3456G= (p.Glu1152=) c.538G= (n.538G=) c.3423G= (p.Glu1141=) c.2081G= n.738C= c.3069G= (p.Glu1023=) c.2712G= (p.Glu904=) | |
2 | g.166251781C>G | CA349071796 | SCN1A-AS1,SCN9A | c.3456G>C (p.Glu1152Asp) c.538G>C (n.538G>C) c.3423G>C (p.Glu1141Asp) c.2081G>C n.738C>G c.3069G>C (p.Glu1023Asp) c.2712G>C (p.Glu904Asp) | |
2 | g.166251781C>T | CA429902465 | SCN1A-AS1,SCN9A | c.3456G>A (p.Glu1152=) c.538G>A (n.538G>A) c.3423G>A (p.Glu1141=) c.2081G>A n.738C>T c.3069G>A (p.Glu1023=) c.2712G>A (p.Glu904=) | ClinVar dbSNP gnomAD v4 |
2 | g.166251782T>A | CA349071799 | SCN1A-AS1,SCN9A | c.3455A>T (p.Glu1152Val) c.537A>T (n.537A>T) c.3422A>T (p.Glu1141Val) c.2080A>T n.739T>A c.3068A>T (p.Glu1023Val) c.2711A>T (p.Glu904Val) | |
2 | g.166251782T>C | CA349071802 | SCN1A-AS1,SCN9A | c.3455A>G (p.Glu1152Gly) c.537A>G (n.537A>G) c.3422A>G (p.Glu1141Gly) c.2080A>G n.739T>C c.3068A>G (p.Glu1023Gly) c.2711A>G (p.Glu904Gly) | |
2 | g.166251782T>G | CA349071804 | SCN1A-AS1,SCN9A | c.3455A>C (p.Glu1152Ala) c.537A>C (n.537A>C) c.3422A>C (p.Glu1141Ala) c.2080A>C n.739T>G c.3068A>C (p.Glu1023Ala) c.2711A>C (p.Glu904Ala) | |
2 | g.166251783C>A | CA349071807 | SCN1A-AS1,SCN9A | c.3454G>T (p.Glu1152Ter) c.536G>T (n.536G>T) c.3421G>T (p.Glu1141Ter) c.2079G>T n.740C>A c.3067G>T (p.Glu1023Ter) c.2710G>T (p.Glu904Ter) | dbSNP |
2 | g.166251783C= | CA1304953778 | SCN1A-AS1,SCN9A | c.3454G= (p.Glu1152=) c.536G= (n.536G=) c.3421G= (p.Glu1141=) c.2079G= n.740C= c.3067G= (p.Glu1023=) c.2710G= (p.Glu904=) |