| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277281del | CA1944236 | SCN1A-AS1,SCN9A | c.2577del (p.Ile859MetfsTer5) c.2544del (p.Ile848MetfsTer5) c.234del (p.Ile78MetfsTer5) c.1579del n.1029+34del c.2190del (p.Ile730MetfsTer5) c.1833del (p.Ile611MetfsTer5) n.2891del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277281A= | CA1304965477 | SCN1A-AS1,SCN9A | c.2576T= (p.Ile859=) c.2543T= (p.Ile848=) c.233T= (p.Ile78=) c.1578T= n.1029+34A= c.2189T= (p.Ile730=) c.1832T= (p.Ile611=) n.2890T= | |
| 2 | g.166277281A>C | CA349078031 | SCN1A-AS1,SCN9A | c.2576T>G (p.Ile859Ser) c.2543T>G (p.Ile848Ser) c.233T>G (p.Ile78Ser) c.1578T>G n.1029+34A>C c.2189T>G (p.Ile730Ser) c.1832T>G (p.Ile611Ser) n.2890T>G | |
| 2 | g.166277281A>G | CA340545 | SCN1A-AS1,SCN9A | c.2576T>C (p.Ile859Thr) c.2543T>C (p.Ile848Thr) c.233T>C (p.Ile78Thr) c.1578T>C n.1029+34A>G c.2189T>C (p.Ile730Thr) c.1832T>C (p.Ile611Thr) n.2890T>C | dbSNP COSMIC COSMIC |
| 2 | g.166277281A>T | CA349078032 | SCN1A-AS1,SCN9A | c.2576T>A (p.Ile859Asn) c.2543T>A (p.Ile848Asn) c.233T>A (p.Ile78Asn) c.1578T>A n.1029+34A>T c.2189T>A (p.Ile730Asn) c.1832T>A (p.Ile611Asn) n.2890T>A | |
| 2 | g.166277282T>A | CA349078033 | SCN1A-AS1,SCN9A | c.2575A>T (p.Ile859Phe) c.2542A>T (p.Ile848Phe) c.232A>T (p.Ile78Phe) c.1577A>T n.1029+35T>A c.2188A>T (p.Ile730Phe) c.1831A>T (p.Ile611Phe) n.2889A>T | |
| 2 | g.166277282T>C | CA349078034 | SCN1A-AS1,SCN9A | c.2575A>G (p.Ile859Val) c.2542A>G (p.Ile848Val) c.232A>G (p.Ile78Val) c.1577A>G n.1029+35T>C c.2188A>G (p.Ile730Val) c.1831A>G (p.Ile611Val) n.2889A>G | |
| 2 | g.166277282T>G | CA349078035 | SCN1A-AS1,SCN9A | c.2575A>C (p.Ile859Leu) c.2542A>C (p.Ile848Leu) c.232A>C (p.Ile78Leu) c.1577A>C n.1029+35T>G c.2188A>C (p.Ile730Leu) c.1831A>C (p.Ile611Leu) n.2889A>C | |
| 2 | g.166277283G>A | CA429978221 | SCN1A-AS1,SCN9A | c.2574C>T (p.Ile858=) c.2541C>T (p.Ile847=) c.231C>T (p.Ile77=) c.1576C>T n.1029+36G>A c.2187C>T (p.Ile729=) c.1830C>T (p.Ile610=) n.2888C>T | |
| 2 | g.166277283G>C | CA349078036 | SCN1A-AS1,SCN9A | c.2574C>G (p.Ile858Met) c.2541C>G (p.Ile847Met) c.231C>G (p.Ile77Met) c.1576C>G n.1029+36G>C c.2187C>G (p.Ile729Met) c.1830C>G (p.Ile610Met) n.2888C>G | |
| 2 | g.166277283G= | CA1304965486 | SCN1A-AS1,SCN9A | c.2574C= (p.Ile858=) c.2541C= (p.Ile847=) c.231C= (p.Ile77=) c.1576C= n.1029+36G= c.2187C= (p.Ile729=) c.1830C= (p.Ile610=) n.2888C= | |
| 2 | g.166277283G>T | CA429978222 | SCN1A-AS1,SCN9A | c.2574C>A (p.Ile858=) c.2541C>A (p.Ile847=) c.231C>A (p.Ile77=) c.1576C>A n.1029+36G>T c.2187C>A (p.Ile729=) c.1830C>A (p.Ile610=) n.2888C>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277284A>C | CA349078037 | SCN1A-AS1,SCN9A | c.2573T>G (p.Ile858Ser) c.2540T>G (p.Ile847Ser) c.230T>G (p.Ile77Ser) c.1575T>G n.1029+37A>C c.2186T>G (p.Ile729Ser) c.1829T>G (p.Ile610Ser) n.2887T>G | |
| 2 | g.166277284A>G | CA349078038 | SCN1A-AS1,SCN9A | c.2573T>C (p.Ile858Thr) c.2540T>C (p.Ile847Thr) c.230T>C (p.Ile77Thr) c.1575T>C n.1029+37A>G c.2186T>C (p.Ile729Thr) c.1829T>C (p.Ile610Thr) n.2887T>C | |
| 2 | g.166277284A>T | CA349078039 | SCN1A-AS1,SCN9A | c.2573T>A (p.Ile858Asn) c.2540T>A (p.Ile847Asn) c.230T>A (p.Ile77Asn) c.1575T>A n.1029+37A>T c.2186T>A (p.Ile729Asn) c.1829T>A (p.Ile610Asn) n.2887T>A | |
| 2 | g.166277285T>A | CA349078041 | SCN1A-AS1,SCN9A | c.2572A>T (p.Ile858Phe) c.2539A>T (p.Ile847Phe) c.229A>T (p.Ile77Phe) c.1574A>T n.1029+38T>A c.2185A>T (p.Ile729Phe) c.1828A>T (p.Ile610Phe) n.2886A>T | |
| 2 | g.166277285T>C | CA59794805 | SCN1A-AS1,SCN9A | c.2572A>G (p.Ile858Val) c.2539A>G (p.Ile847Val) c.229A>G (p.Ile77Val) c.1574A>G n.1029+38T>C c.2185A>G (p.Ile729Val) c.1828A>G (p.Ile610Val) n.2886A>G | dbSNP |
| 2 | g.166277285T>G | CA349078040 | SCN1A-AS1,SCN9A | c.2572A>C (p.Ile858Leu) c.2539A>C (p.Ile847Leu) c.229A>C (p.Ile77Leu) c.1574A>C n.1029+38T>G c.2185A>C (p.Ile729Leu) c.1828A>C (p.Ile610Leu) n.2886A>C | |
| 2 | g.166277285T= | CA1304965498 | SCN1A-AS1,SCN9A | c.2572A= (p.Ile858=) c.2539A= (p.Ile847=) c.229A= (p.Ile77=) c.1574A= n.1029+38T= c.2185A= (p.Ile729=) c.1828A= (p.Ile610=) n.2886A= | |
| 2 | g.166277286C>A | CA349078042 | SCN1A-AS1,SCN9A | c.2571G>T (p.Lys857Asn) c.2538G>T (p.Lys846Asn) c.228G>T (p.Lys76Asn) c.1573G>T n.1029+39C>A c.2184G>T (p.Lys728Asn) c.1827G>T (p.Lys609Asn) n.2885G>T | |
| 2 | g.166277286C>G | CA349078043 | SCN1A-AS1,SCN9A | c.2571G>C (p.Lys857Asn) c.2538G>C (p.Lys846Asn) c.228G>C (p.Lys76Asn) c.1573G>C n.1029+39C>G c.2184G>C (p.Lys728Asn) c.1827G>C (p.Lys609Asn) n.2885G>C | |
| 2 | g.166277286C>T | CA429978223 | SCN1A-AS1,SCN9A | c.2571G>A (p.Lys857=) c.2538G>A (p.Lys846=) c.228G>A (p.Lys76=) c.1573G>A n.1029+39C>T c.2184G>A (p.Lys728=) c.1827G>A (p.Lys609=) n.2885G>A | |
| 2 | g.166277287T>A | CA349078044 | SCN1A-AS1,SCN9A | c.2570A>T (p.Lys857Met) c.2537A>T (p.Lys846Met) c.227A>T (p.Lys76Met) c.1572A>T n.1029+40T>A c.2183A>T (p.Lys728Met) c.1826A>T (p.Lys609Met) n.2884A>T | |
| 2 | g.166277287T>C | CA349078045 | SCN1A-AS1,SCN9A | c.2570A>G (p.Lys857Arg) c.2537A>G (p.Lys846Arg) c.227A>G (p.Lys76Arg) c.1572A>G n.1029+40T>C c.2183A>G (p.Lys728Arg) c.1826A>G (p.Lys609Arg) n.2884A>G | |
| 2 | g.166277287T>G | CA349078046 | SCN1A-AS1,SCN9A | c.2570A>C (p.Lys857Thr) c.2537A>C (p.Lys846Thr) c.227A>C (p.Lys76Thr) c.1572A>C n.1029+40T>G c.2183A>C (p.Lys728Thr) c.1826A>C (p.Lys609Thr) n.2884A>C | |
| 2 | g.166277288T>A | CA349078047 | SCN1A-AS1,SCN9A | c.2569A>T (p.Lys857Ter) c.2536A>T (p.Lys846Ter) c.226A>T (p.Lys76Ter) c.1571A>T n.1029+41T>A c.2182A>T (p.Lys728Ter) c.1825A>T (p.Lys609Ter) n.2883A>T | dbSNP |
| 2 | g.166277288T>C | CA349078048 | SCN1A-AS1,SCN9A | c.2569A>G (p.Lys857Glu) c.2536A>G (p.Lys846Glu) c.226A>G (p.Lys76Glu) c.1571A>G n.1029+41T>C c.2182A>G (p.Lys728Glu) c.1825A>G (p.Lys609Glu) n.2883A>G | |
| 2 | g.166277288T>G | CA349078049 | SCN1A-AS1,SCN9A | c.2569A>C (p.Lys857Gln) c.2536A>C (p.Lys846Gln) c.226A>C (p.Lys76Gln) c.1571A>C n.1029+41T>G c.2182A>C (p.Lys728Gln) c.1825A>C (p.Lys609Gln) n.2883A>C | |
| 2 | g.166277288T= | CA1304965506 | SCN1A-AS1,SCN9A | c.2569A= (p.Lys857=) c.2536A= (p.Lys846=) c.226A= (p.Lys76=) c.1571A= n.1029+41T= c.2182A= (p.Lys728=) c.1825A= (p.Lys609=) n.2883A= | |
| 2 | g.166277289A= | CA1304965512 | SCN1A-AS1,SCN9A | c.2568T= (p.Ile856=) c.2535T= (p.Ile845=) c.225T= (p.Ile75=) c.1570T= n.1029+42A= c.2181T= (p.Ile727=) c.1824T= (p.Ile608=) n.2882T= | |
| 2 | g.166277289A>C | CA349078050 | SCN1A-AS1,SCN9A | c.2568T>G (p.Ile856Met) c.2535T>G (p.Ile845Met) c.225T>G (p.Ile75Met) c.1570T>G n.1029+42A>C c.2181T>G (p.Ile727Met) c.1824T>G (p.Ile608Met) n.2882T>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277289A>G | CA429978224 | SCN1A-AS1,SCN9A | c.2568T>C (p.Ile856=) c.2535T>C (p.Ile845=) c.225T>C (p.Ile75=) c.1570T>C n.1029+42A>G c.2181T>C (p.Ile727=) c.1824T>C (p.Ile608=) n.2882T>C | |
| 2 | g.166277289A>T | CA429978225 | SCN1A-AS1,SCN9A | c.2568T>A (p.Ile856=) c.2535T>A (p.Ile845=) c.225T>A (p.Ile75=) c.1570T>A n.1029+42A>T c.2181T>A (p.Ile727=) c.1824T>A (p.Ile608=) n.2882T>A | |
| 2 | g.166277290A= | CA1304965518 | SCN1A-AS1,SCN9A | c.2567T= (p.Ile856=) c.2534T= (p.Ile845=) c.224T= (p.Ile75=) c.1569T= n.1029+43A= c.2180T= (p.Ile727=) c.1823T= (p.Ile608=) n.2881T= | |
| 2 | g.166277290A>C | CA349078051 | SCN1A-AS1,SCN9A | c.2567T>G (p.Ile856Ser) c.2534T>G (p.Ile845Ser) c.224T>G (p.Ile75Ser) c.1569T>G n.1029+43A>C c.2180T>G (p.Ile727Ser) c.1823T>G (p.Ile608Ser) n.2881T>G | |
| 2 | g.166277290A>G | CA59794809 | SCN1A-AS1,SCN9A | c.2567T>C (p.Ile856Thr) c.2534T>C (p.Ile845Thr) c.224T>C (p.Ile75Thr) c.1569T>C n.1029+43A>G c.2180T>C (p.Ile727Thr) c.1823T>C (p.Ile608Thr) n.2881T>C | dbSNP gnomAD v4 |
| 2 | g.166277290A>T | CA349078052 | SCN1A-AS1,SCN9A | c.2567T>A (p.Ile856Asn) c.2534T>A (p.Ile845Asn) c.224T>A (p.Ile75Asn) c.1569T>A n.1029+43A>T c.2180T>A (p.Ile727Asn) c.1823T>A (p.Ile608Asn) n.2881T>A | |
| 2 | g.166277291T>A | CA349078054 | SCN1A-AS1,SCN9A | c.2566A>T (p.Ile856Phe) c.2533A>T (p.Ile845Phe) c.223A>T (p.Ile75Phe) c.1568A>T n.1029+44T>A c.2179A>T (p.Ile727Phe) c.1822A>T (p.Ile608Phe) n.2880A>T | |
| 2 | g.166277291T>C | CA349078055 | SCN1A-AS1,SCN9A | c.2566A>G (p.Ile856Val) c.2533A>G (p.Ile845Val) c.223A>G (p.Ile75Val) c.1568A>G n.1029+44T>C c.2179A>G (p.Ile727Val) c.1822A>G (p.Ile608Val) n.2880A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277291T>G | CA349078053 | SCN1A-AS1,SCN9A | c.2566A>C (p.Ile856Leu) c.2533A>C (p.Ile845Leu) c.223A>C (p.Ile75Leu) c.1568A>C n.1029+44T>G c.2179A>C (p.Ile727Leu) c.1822A>C (p.Ile608Leu) n.2880A>C | |
| 2 | g.166277291T= | CA1304965527 | SCN1A-AS1,SCN9A | c.2566A= (p.Ile856=) c.2533A= (p.Ile845=) c.223A= (p.Ile75=) c.1568A= n.1029+44T= c.2179A= (p.Ile727=) c.1822A= (p.Ile608=) n.2880A= | |
| 2 | g.166277292C>A | CA429978226 | SCN1A-AS1,SCN9A | c.2565G>T (p.Leu855=) c.2532G>T (p.Leu844=) c.222G>T (p.Leu74=) c.1567G>T n.1029+45C>A c.2178G>T (p.Leu726=) c.1821G>T (p.Leu607=) n.2879G>T | |
| 2 | g.166277292C= | CA1304965535 | SCN1A-AS1,SCN9A | c.2565G= (p.Leu855=) c.2532G= (p.Leu844=) c.222G= (p.Leu74=) c.1567G= n.1029+45C= c.2178G= (p.Leu726=) c.1821G= (p.Leu607=) n.2879G= | |
| 2 | g.166277292C>G | CA429978227 | SCN1A-AS1,SCN9A | c.2565G>C (p.Leu855=) c.2532G>C (p.Leu844=) c.222G>C (p.Leu74=) c.1567G>C n.1029+45C>G c.2178G>C (p.Leu726=) c.1821G>C (p.Leu607=) n.2879G>C | gnomAD v4 |
| 2 | g.166277292C>T | CA429978228 | SCN1A-AS1,SCN9A | c.2565G>A (p.Leu855=) c.2532G>A (p.Leu844=) c.222G>A (p.Leu74=) c.1567G>A n.1029+45C>T c.2178G>A (p.Leu726=) c.1821G>A (p.Leu607=) n.2879G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.166277293A>C | CA349078058 | SCN1A-AS1,SCN9A | c.2564T>G (p.Leu855Arg) c.2531T>G (p.Leu844Arg) c.221T>G (p.Leu74Arg) c.1566T>G n.1029+46A>C c.2177T>G (p.Leu726Arg) c.1820T>G (p.Leu607Arg) n.2878T>G | |
| 2 | g.166277293A>G | CA349078056 | SCN1A-AS1,SCN9A | c.2564T>C (p.Leu855Pro) c.2531T>C (p.Leu844Pro) c.221T>C (p.Leu74Pro) c.1566T>C n.1029+46A>G c.2177T>C (p.Leu726Pro) c.1820T>C (p.Leu607Pro) n.2878T>C | |
| 2 | g.166277293A>T | CA349078057 | SCN1A-AS1,SCN9A | c.2564T>A (p.Leu855Gln) c.2531T>A (p.Leu844Gln) c.221T>A (p.Leu74Gln) c.1566T>A n.1029+46A>T c.2177T>A (p.Leu726Gln) c.1820T>A (p.Leu607Gln) n.2878T>A | |
| 2 | g.166277294G>A | CA429978229 | SCN1A-AS1,SCN9A | c.2563C>T (p.Leu855=) c.2530C>T (p.Leu844=) c.220C>T (p.Leu74=) c.1565C>T n.1029+47G>A c.2176C>T (p.Leu726=) c.1819C>T (p.Leu607=) n.2877C>T | gnomAD v4 |
| 2 | g.166277294G>C | CA349078059 | SCN1A-AS1,SCN9A | c.2563C>G (p.Leu855Val) c.2530C>G (p.Leu844Val) c.220C>G (p.Leu74Val) c.1565C>G n.1029+47G>C c.2176C>G (p.Leu726Val) c.1819C>G (p.Leu607Val) n.2877C>G |