Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165097338G>A | CA349025423 | SCN3A | c.4102C>T (p.Gln1368Ter) c.4153C>T (p.Gln1385Ter) c.*1994C>T (n.*1994C>T) c.*887C>T (n.*887C>T) c.2362C>T (n.2362C>T) c.4006C>T (p.Gln1336Ter) n.277C>T c.2263C>T (p.Gln755Ter) c.4015C>T (p.Gln1339Ter) | dbSNP |
2 | g.165097338G>C | CA1938639 | SCN3A | c.4102C>G (p.Gln1368Glu) c.4153C>G (p.Gln1385Glu) c.*1994C>G (n.*1994C>G) c.*887C>G (n.*887C>G) c.2362C>G (n.2362C>G) c.4006C>G (p.Gln1336Glu) n.277C>G c.2263C>G (p.Gln755Glu) c.4015C>G (p.Gln1339Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097338G= | CA1304438436 | SCN3A | c.4102C= (p.Gln1368=) c.4153C= (p.Gln1385=) c.*1994C= (n.*1994C=) c.*887C= (n.*887C=) c.2362C= (n.2362C=) c.4006C= (p.Gln1336=) n.277C= c.2263C= (p.Gln755=) c.4015C= (p.Gln1339=) | |
2 | g.165097338G>T | CA349025429 | SCN3A | c.4102C>A (p.Gln1368Lys) c.4153C>A (p.Gln1385Lys) c.*1994C>A (n.*1994C>A) c.*887C>A (n.*887C>A) c.2362C>A (n.2362C>A) c.4006C>A (p.Gln1336Lys) n.277C>A c.2263C>A (p.Gln755Lys) c.4015C>A (p.Gln1339Lys) | |
2 | g.165097339A= | CA1304438438 | SCN3A | c.4101T= (p.Cys1367=) c.4152T= (p.Cys1384=) c.*1993T= (n.*1993T=) c.*886T= (n.*886T=) c.2361T= (n.2361T=) c.4005T= (p.Cys1335=) n.276T= c.2262T= (p.Cys754=) c.4014T= (p.Cys1338=) | |
2 | g.165097339A>C | CA349025432 | SCN3A | c.4101T>G (p.Cys1367Trp) c.4152T>G (p.Cys1384Trp) c.*1993T>G (n.*1993T>G) c.*886T>G (n.*886T>G) c.2361T>G (n.2361T>G) c.4005T>G (p.Cys1335Trp) n.276T>G c.2262T>G (p.Cys754Trp) c.4014T>G (p.Cys1338Trp) | |
2 | g.165097339A>G | CA429880837 | SCN3A | c.4101T>C (p.Cys1367=) c.4152T>C (p.Cys1384=) c.*1993T>C (n.*1993T>C) c.*886T>C (n.*886T>C) c.2361T>C (n.2361T>C) c.4005T>C (p.Cys1335=) n.276T>C c.2262T>C (p.Cys754=) c.4014T>C (p.Cys1338=) | |
2 | g.165097339A>T | CA349025433 | SCN3A | c.4101T>A (p.Cys1367Ter) c.4152T>A (p.Cys1384Ter) c.*1993T>A (n.*1993T>A) c.*886T>A (n.*886T>A) c.2361T>A (n.2361T>A) c.4005T>A (p.Cys1335Ter) n.276T>A c.2262T>A (p.Cys754Ter) c.4014T>A (p.Cys1338Ter) | dbSNP |
2 | g.165097339_165097343delinsACAGT | CA1304438437 | SCN3A | c.4097_4101delinsACTGT (p.Asp1366=) c.4148_4152delinsACTGT (p.Asp1383=) c.*1989_*1993delinsACTGT (n.*1989_*1993delinsACTGT) c.*882_*886delinsACTGT (n.*882_*886delinsACTGT) c.2357_2361delinsACTGT (n.2357_2361delinsACTGT) c.4001_4005delinsACTGT (p.Asp1334=) n.272_276delinsACTGT c.2258_2262delinsACTGT (p.Asp753=) c.4010_4014delinsACTGT (p.Asp1337=) | |
2 | g.165097340C>A | CA349025435 | SCN3A | c.4100G>T (p.Cys1367Phe) c.4151G>T (p.Cys1384Phe) c.*1992G>T (n.*1992G>T) c.*885G>T (n.*885G>T) c.2360G>T (n.2360G>T) c.4004G>T (p.Cys1335Phe) n.275G>T c.2261G>T (p.Cys754Phe) c.4013G>T (p.Cys1338Phe) | |
2 | g.165097340C>G | CA349025437 | SCN3A | c.4100G>C (p.Cys1367Ser) c.4151G>C (p.Cys1384Ser) c.*1992G>C (n.*1992G>C) c.*885G>C (n.*885G>C) c.2360G>C (n.2360G>C) c.4004G>C (p.Cys1335Ser) n.275G>C c.2261G>C (p.Cys754Ser) c.4013G>C (p.Cys1338Ser) | |
2 | g.165097340C>T | CA349025438 | SCN3A | c.4100G>A (p.Cys1367Tyr) c.4151G>A (p.Cys1384Tyr) c.*1992G>A (n.*1992G>A) c.*885G>A (n.*885G>A) c.2360G>A (n.2360G>A) c.4004G>A (p.Cys1335Tyr) n.275G>A c.2261G>A (p.Cys754Tyr) c.4013G>A (p.Cys1338Tyr) | |
2 | g.165097342_165097345del | CA915942917 | SCN3A | c.4097_4100del (p.Asp1366ValfsTer13) c.4148_4151del (p.Asp1383ValfsTer13) c.*1989_*1992del (n.*1989_*1992del) c.*882_*885del (n.*882_*885del) c.2357_2360del (n.2357_2360del) c.4001_4004del (p.Asp1334ValfsTer13) n.272_275del c.2258_2261del (p.Asp753ValfsTer13) c.4010_4013del (p.Asp1337ValfsTer13) | ClinVar dbSNP |
2 | g.165097341A= | CA1304438439 | SCN3A | c.4099T= (p.Cys1367=) c.4150T= (p.Cys1384=) c.*1991T= (n.*1991T=) c.*884T= (n.*884T=) c.2359T= (n.2359T=) c.4003T= (p.Cys1335=) n.274T= c.2260T= (p.Cys754=) c.4012T= (p.Cys1338=) | |
2 | g.165097341A>C | CA349025439 | SCN3A | c.4099T>G (p.Cys1367Gly) c.4150T>G (p.Cys1384Gly) c.*1991T>G (n.*1991T>G) c.*884T>G (n.*884T>G) c.2359T>G (n.2359T>G) c.4003T>G (p.Cys1335Gly) n.274T>G c.2260T>G (p.Cys754Gly) c.4012T>G (p.Cys1338Gly) | |
2 | g.165097341A>G | CA1938640 | SCN3A | c.4099T>C (p.Cys1367Arg) c.4150T>C (p.Cys1384Arg) c.*1991T>C (n.*1991T>C) c.*884T>C (n.*884T>C) c.2359T>C (n.2359T>C) c.4003T>C (p.Cys1335Arg) n.274T>C c.2260T>C (p.Cys754Arg) c.4012T>C (p.Cys1338Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165097341A>T | CA349025442 | SCN3A | c.4099T>A (p.Cys1367Ser) c.4150T>A (p.Cys1384Ser) c.*1991T>A (n.*1991T>A) c.*884T>A (n.*884T>A) c.2359T>A (n.2359T>A) c.4003T>A (p.Cys1335Ser) n.274T>A c.2260T>A (p.Cys754Ser) c.4012T>A (p.Cys1338Ser) | gnomAD v4 |
2 | g.165097342G>A | CA429880838 | SCN3A | c.4098C>T (p.Asp1366=) c.4149C>T (p.Asp1383=) c.*1990C>T (n.*1990C>T) c.*883C>T (n.*883C>T) c.2358C>T (n.2358C>T) c.4002C>T (p.Asp1334=) n.273C>T c.2259C>T (p.Asp753=) c.4011C>T (p.Asp1337=) | gnomAD v4 |
2 | g.165097342G>C | CA349025444 | SCN3A | c.4098C>G (p.Asp1366Glu) c.4149C>G (p.Asp1383Glu) c.*1990C>G (n.*1990C>G) c.*883C>G (n.*883C>G) c.2358C>G (n.2358C>G) c.4002C>G (p.Asp1334Glu) n.273C>G c.2259C>G (p.Asp753Glu) c.4011C>G (p.Asp1337Glu) | COSMIC COSMIC |
2 | g.165097342G>T | CA349025445 | SCN3A | c.4098C>A (p.Asp1366Glu) c.4149C>A (p.Asp1383Glu) c.*1990C>A (n.*1990C>A) c.*883C>A (n.*883C>A) c.2358C>A (n.2358C>A) c.4002C>A (p.Asp1334Glu) n.273C>A c.2259C>A (p.Asp753Glu) c.4011C>A (p.Asp1337Glu) | |
2 | g.165097343T>A | CA349025448 | SCN3A | c.4097A>T (p.Asp1366Val) c.4148A>T (p.Asp1383Val) c.*1989A>T (n.*1989A>T) c.*882A>T (n.*882A>T) c.2357A>T (n.2357A>T) c.4001A>T (p.Asp1334Val) n.272A>T c.2258A>T (p.Asp753Val) c.4010A>T (p.Asp1337Val) | |
2 | g.165097343T>C | CA349025450 | SCN3A | c.4097A>G (p.Asp1366Gly) c.4148A>G (p.Asp1383Gly) c.*1989A>G (n.*1989A>G) c.*882A>G (n.*882A>G) c.2357A>G (n.2357A>G) c.4001A>G (p.Asp1334Gly) n.272A>G c.2258A>G (p.Asp753Gly) c.4010A>G (p.Asp1337Gly) | dbSNP |
2 | g.165097343T>G | CA349025449 | SCN3A | c.4097A>C (p.Asp1366Ala) c.4148A>C (p.Asp1383Ala) c.*1989A>C (n.*1989A>C) c.*882A>C (n.*882A>C) c.2357A>C (n.2357A>C) c.4001A>C (p.Asp1334Ala) n.272A>C c.2258A>C (p.Asp753Ala) c.4010A>C (p.Asp1337Ala) | |
2 | g.165097344C>A | CA349025453 | SCN3A | c.4096G>T (p.Asp1366Tyr) c.4147G>T (p.Asp1383Tyr) c.*1988G>T (n.*1988G>T) c.*881G>T (n.*881G>T) c.2356G>T (n.2356G>T) c.4000G>T (p.Asp1334Tyr) n.271G>T c.2257G>T (p.Asp753Tyr) c.4009G>T (p.Asp1337Tyr) | |
2 | g.165097344C>G | CA349025455 | SCN3A | c.4096G>C (p.Asp1366His) c.4147G>C (p.Asp1383His) c.*1988G>C (n.*1988G>C) c.*881G>C (n.*881G>C) c.2356G>C (n.2356G>C) c.4000G>C (p.Asp1334His) n.271G>C c.2257G>C (p.Asp753His) c.4009G>C (p.Asp1337His) | |
2 | g.165097344C>T | CA349025456 | SCN3A | c.4096G>A (p.Asp1366Asn) c.4147G>A (p.Asp1383Asn) c.*1988G>A (n.*1988G>A) c.*881G>A (n.*881G>A) c.2356G>A (n.2356G>A) c.4000G>A (p.Asp1334Asn) n.271G>A c.2257G>A (p.Asp753Asn) c.4009G>A (p.Asp1337Asn) | gnomAD v4 |
2 | g.165097345A>C | CA349025459 | SCN3A | c.4095T>G (p.Ser1365Arg) c.4146T>G (p.Ser1382Arg) c.*1987T>G (n.*1987T>G) c.*880T>G (n.*880T>G) c.2355T>G (n.2355T>G) c.3999T>G (p.Ser1333Arg) n.270T>G c.2256T>G (p.Ser752Arg) c.4008T>G (p.Ser1336Arg) | |
2 | g.165097345A>G | CA429880839 | SCN3A | c.4095T>C (p.Ser1365=) c.4146T>C (p.Ser1382=) c.*1987T>C (n.*1987T>C) c.*880T>C (n.*880T>C) c.2355T>C (n.2355T>C) c.3999T>C (p.Ser1333=) n.270T>C c.2256T>C (p.Ser752=) c.4008T>C (p.Ser1336=) | |
2 | g.165097345A>T | CA349025460 | SCN3A | c.4095T>A (p.Ser1365Arg) c.4146T>A (p.Ser1382Arg) c.*1987T>A (n.*1987T>A) c.*880T>A (n.*880T>A) c.2355T>A (n.2355T>A) c.3999T>A (p.Ser1333Arg) n.270T>A c.2256T>A (p.Ser752Arg) c.4008T>A (p.Ser1336Arg) | |
2 | g.165097346C>A | CA349025462 | SCN3A | c.4094G>T (p.Ser1365Ile) c.4145G>T (p.Ser1382Ile) c.*1986G>T (n.*1986G>T) c.*879G>T (n.*879G>T) c.2354G>T (n.2354G>T) c.3998G>T (p.Ser1333Ile) n.269G>T c.2255G>T (p.Ser752Ile) c.4007G>T (p.Ser1336Ile) | |
2 | g.165097346C>G | CA349025464 | SCN3A | c.4094G>C (p.Ser1365Thr) c.4145G>C (p.Ser1382Thr) c.*1986G>C (n.*1986G>C) c.*879G>C (n.*879G>C) c.2354G>C (n.2354G>C) c.3998G>C (p.Ser1333Thr) n.269G>C c.2255G>C (p.Ser752Thr) c.4007G>C (p.Ser1336Thr) | |
2 | g.165097346C>T | CA349025466 | SCN3A | c.4094G>A (p.Ser1365Asn) c.4145G>A (p.Ser1382Asn) c.*1986G>A (n.*1986G>A) c.*879G>A (n.*879G>A) c.2354G>A (n.2354G>A) c.3998G>A (p.Ser1333Asn) n.269G>A c.2255G>A (p.Ser752Asn) c.4007G>A (p.Ser1336Asn) | |
2 | g.165097347T>A | CA349025468 | SCN3A | c.4093A>T (p.Ser1365Cys) c.4144A>T (p.Ser1382Cys) c.*1985A>T (n.*1985A>T) c.*878A>T (n.*878A>T) c.2353A>T (n.2353A>T) c.3997A>T (p.Ser1333Cys) n.268A>T c.2254A>T (p.Ser752Cys) c.4006A>T (p.Ser1336Cys) | |
2 | g.165097347T>C | CA349025469 | SCN3A | c.4093A>G (p.Ser1365Gly) c.4144A>G (p.Ser1382Gly) c.*1985A>G (n.*1985A>G) c.*878A>G (n.*878A>G) c.2353A>G (n.2353A>G) c.3997A>G (p.Ser1333Gly) n.268A>G c.2254A>G (p.Ser752Gly) c.4006A>G (p.Ser1336Gly) | |
2 | g.165097347T>G | CA349025471 | SCN3A | c.4093A>C (p.Ser1365Arg) c.4144A>C (p.Ser1382Arg) c.*1985A>C (n.*1985A>C) c.*878A>C (n.*878A>C) c.2353A>C (n.2353A>C) c.3997A>C (p.Ser1333Arg) n.268A>C c.2254A>C (p.Ser752Arg) c.4006A>C (p.Ser1336Arg) | |
2 | g.165097348C>A | CA349025474 | SCN3A | c.4092G>T (p.Leu1364Phe) c.4143G>T (p.Leu1381Phe) c.*1984G>T (n.*1984G>T) c.*877G>T (n.*877G>T) c.2352G>T (n.2352G>T) c.3996G>T (p.Leu1332Phe) n.267G>T c.2253G>T (p.Leu751Phe) c.4005G>T (p.Leu1335Phe) | |
2 | g.165097348C>G | CA349025473 | SCN3A | c.4092G>C (p.Leu1364Phe) c.4143G>C (p.Leu1381Phe) c.*1984G>C (n.*1984G>C) c.*877G>C (n.*877G>C) c.2352G>C (n.2352G>C) c.3996G>C (p.Leu1332Phe) n.267G>C c.2253G>C (p.Leu751Phe) c.4005G>C (p.Leu1335Phe) | |
2 | g.165097348C>T | CA429880840 | SCN3A | c.4092G>A (p.Leu1364=) c.4143G>A (p.Leu1381=) c.*1984G>A (n.*1984G>A) c.*877G>A (n.*877G>A) c.2352G>A (n.2352G>A) c.3996G>A (p.Leu1332=) n.267G>A c.2253G>A (p.Leu751=) c.4005G>A (p.Leu1335=) | |
2 | g.165097349A= | CA1304438440 | SCN3A | c.4091T= (p.Leu1364=) c.4142T= (p.Leu1381=) c.*1983T= (n.*1983T=) c.*876T= (n.*876T=) c.2351T= (n.2351T=) c.3995T= (p.Leu1332=) n.266T= c.2252T= (p.Leu751=) c.4004T= (p.Leu1335=) | |
2 | g.165097349A>C | CA349025476 | SCN3A | c.4091T>G (p.Leu1364Trp) c.4142T>G (p.Leu1381Trp) c.*1983T>G (n.*1983T>G) c.*876T>G (n.*876T>G) c.2351T>G (n.2351T>G) c.3995T>G (p.Leu1332Trp) n.266T>G c.2252T>G (p.Leu751Trp) c.4004T>G (p.Leu1335Trp) | |
2 | g.165097349A>G | CA349025477 | SCN3A | c.4091T>C (p.Leu1364Ser) c.4142T>C (p.Leu1381Ser) c.*1983T>C (n.*1983T>C) c.*876T>C (n.*876T>C) c.2351T>C (n.2351T>C) c.3995T>C (p.Leu1332Ser) n.266T>C c.2252T>C (p.Leu751Ser) c.4004T>C (p.Leu1335Ser) | |
2 | g.165097349A>T | CA349025479 | SCN3A | c.4091T>A (p.Leu1364Ter) c.4142T>A (p.Leu1381Ter) c.*1983T>A (n.*1983T>A) c.*876T>A (n.*876T>A) c.2351T>A (n.2351T>A) c.3995T>A (p.Leu1332Ter) n.266T>A c.2252T>A (p.Leu751Ter) c.4004T>A (p.Leu1335Ter) | dbSNP |
2 | g.165097350A>C | CA349025481 | SCN3A | c.4090T>G (p.Leu1364Val) c.4141T>G (p.Leu1381Val) c.*1982T>G (n.*1982T>G) c.*875T>G (n.*875T>G) c.2350T>G (n.2350T>G) c.3994T>G (p.Leu1332Val) n.265T>G c.2251T>G (p.Leu751Val) c.4003T>G (p.Leu1335Val) | |
2 | g.165097350A>G | CA429880841 | SCN3A | c.4090T>C (p.Leu1364=) c.4141T>C (p.Leu1381=) c.*1982T>C (n.*1982T>C) c.*875T>C (n.*875T>C) c.2350T>C (n.2350T>C) c.3994T>C (p.Leu1332=) n.265T>C c.2251T>C (p.Leu751=) c.4003T>C (p.Leu1335=) | gnomAD v4 |
2 | g.165097350A>T | CA349025482 | SCN3A | c.4090T>A (p.Leu1364Met) c.4141T>A (p.Leu1381Met) c.*1982T>A (n.*1982T>A) c.*875T>A (n.*875T>A) c.2350T>A (n.2350T>A) c.3994T>A (p.Leu1332Met) n.265T>A c.2251T>A (p.Leu751Met) c.4003T>A (p.Leu1335Met) | gnomAD v4 |
2 | g.165097351A>C | CA349025483 | SCN3A | c.4089T>G (p.Asn1363Lys) c.4140T>G (p.Asn1380Lys) c.*1981T>G (n.*1981T>G) c.*874T>G (n.*874T>G) c.2349T>G (n.2349T>G) c.3993T>G (p.Asn1331Lys) n.264T>G c.2250T>G (p.Asn750Lys) c.4002T>G (p.Asn1334Lys) | |
2 | g.165097351A>G | CA429880842 | SCN3A | c.4089T>C (p.Asn1363=) c.4140T>C (p.Asn1380=) c.*1981T>C (n.*1981T>C) c.*874T>C (n.*874T>C) c.2349T>C (n.2349T>C) c.3993T>C (p.Asn1331=) n.264T>C c.2250T>C (p.Asn750=) c.4002T>C (p.Asn1334=) | |
2 | g.165097351A>T | CA349025485 | SCN3A | c.4089T>A (p.Asn1363Lys) c.4140T>A (p.Asn1380Lys) c.*1981T>A (n.*1981T>A) c.*874T>A (n.*874T>A) c.2349T>A (n.2349T>A) c.3993T>A (p.Asn1331Lys) n.264T>A c.2250T>A (p.Asn750Lys) c.4002T>A (p.Asn1334Lys) | |
2 | g.165097352T>A | CA349025490 | SCN3A | c.4088A>T (p.Asn1363Ile) c.4139A>T (p.Asn1380Ile) c.*1980A>T (n.*1980A>T) c.*873A>T (n.*873A>T) c.2348A>T (n.2348A>T) c.3992A>T (p.Asn1331Ile) n.263A>T c.2249A>T (p.Asn750Ile) c.4001A>T (p.Asn1334Ile) | |
2 | g.165097352T>C | CA349025488 | SCN3A | c.4088A>G (p.Asn1363Ser) c.4139A>G (p.Asn1380Ser) c.*1980A>G (n.*1980A>G) c.*873A>G (n.*873A>G) c.2348A>G (n.2348A>G) c.3992A>G (p.Asn1331Ser) n.263A>G c.2249A>G (p.Asn750Ser) c.4001A>G (p.Asn1334Ser) | |
2 | g.165097352T>G | CA349025489 | SCN3A | c.4088A>C (p.Asn1363Thr) c.4139A>C (p.Asn1380Thr) c.*1980A>C (n.*1980A>C) c.*873A>C (n.*873A>C) c.2348A>C (n.2348A>C) c.3992A>C (p.Asn1331Thr) n.263A>C c.2249A>C (p.Asn750Thr) c.4001A>C (p.Asn1334Thr) | |
2 | g.165097353T>A | CA349025493 | SCN3A | c.4087A>T (p.Asn1363Tyr) c.4138A>T (p.Asn1380Tyr) c.*1979A>T (n.*1979A>T) c.*872A>T (n.*872A>T) c.2347A>T (n.2347A>T) c.3991A>T (p.Asn1331Tyr) n.262A>T c.2248A>T (p.Asn750Tyr) c.4000A>T (p.Asn1334Tyr) | |
2 | g.165097353T>C | CA349025495 | SCN3A | c.4087A>G (p.Asn1363Asp) c.4138A>G (p.Asn1380Asp) c.*1979A>G (n.*1979A>G) c.*872A>G (n.*872A>G) c.2347A>G (n.2347A>G) c.3991A>G (p.Asn1331Asp) n.262A>G c.2248A>G (p.Asn750Asp) c.4000A>G (p.Asn1334Asp) | |
2 | g.165097353T>G | CA349025496 | SCN3A | c.4087A>C (p.Asn1363His) c.4138A>C (p.Asn1380His) c.*1979A>C (n.*1979A>C) c.*872A>C (n.*872A>C) c.2347A>C (n.2347A>C) c.3991A>C (p.Asn1331His) n.262A>C c.2248A>C (p.Asn750His) c.4000A>C (p.Asn1334His) | |
2 | g.165097354G>A | CA429880843 | SCN3A | c.4086C>T (p.Asn1362=) c.4137C>T (p.Asn1379=) c.*1978C>T (n.*1978C>T) c.*871C>T (n.*871C>T) c.2346C>T (n.2346C>T) c.3990C>T (p.Asn1330=) n.261C>T c.2247C>T (p.Asn749=) c.3999C>T (p.Asn1333=) | |
2 | g.165097354G>C | CA349025498 | SCN3A | c.4086C>G (p.Asn1362Lys) c.4137C>G (p.Asn1379Lys) c.*1978C>G (n.*1978C>G) c.*871C>G (n.*871C>G) c.2346C>G (n.2346C>G) c.3990C>G (p.Asn1330Lys) n.261C>G c.2247C>G (p.Asn749Lys) c.3999C>G (p.Asn1333Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.165097354G= | CA1304438441 | SCN3A | c.4086C= (p.Asn1362=) c.4137C= (p.Asn1379=) c.*1978C= (n.*1978C=) c.*871C= (n.*871C=) c.2346C= (n.2346C=) c.3990C= (p.Asn1330=) n.261C= c.2247C= (p.Asn749=) c.3999C= (p.Asn1333=) | |
2 | g.165097354G>T | CA349025500 | SCN3A | c.4086C>A (p.Asn1362Lys) c.4137C>A (p.Asn1379Lys) c.*1978C>A (n.*1978C>A) c.*871C>A (n.*871C>A) c.2346C>A (n.2346C>A) c.3990C>A (p.Asn1330Lys) n.261C>A c.2247C>A (p.Asn749Lys) c.3999C>A (p.Asn1333Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165097355T>A | CA349025501 | SCN3A | c.4085A>T (p.Asn1362Ile) c.4136A>T (p.Asn1379Ile) c.*1977A>T (n.*1977A>T) c.*870A>T (n.*870A>T) c.2345A>T (n.2345A>T) c.3989A>T (p.Asn1330Ile) n.260A>T c.2246A>T (p.Asn749Ile) c.3998A>T (p.Asn1333Ile) | |
2 | g.165097355T>C | CA349025505 | SCN3A | c.4085A>G (p.Asn1362Ser) c.4136A>G (p.Asn1379Ser) c.*1977A>G (n.*1977A>G) c.*870A>G (n.*870A>G) c.2345A>G (n.2345A>G) c.3989A>G (p.Asn1330Ser) n.260A>G c.2246A>G (p.Asn749Ser) c.3998A>G (p.Asn1333Ser) | |
2 | g.165097355T>G | CA349025503 | SCN3A | c.4085A>C (p.Asn1362Thr) c.4136A>C (p.Asn1379Thr) c.*1977A>C (n.*1977A>C) c.*870A>C (n.*870A>C) c.2345A>C (n.2345A>C) c.3989A>C (p.Asn1330Thr) n.260A>C c.2246A>C (p.Asn749Thr) c.3998A>C (p.Asn1333Thr) | |
2 | g.165097356T>A | CA349025507 | SCN3A | c.4084A>T (p.Asn1362Tyr) c.4135A>T (p.Asn1379Tyr) c.*1976A>T (n.*1976A>T) c.*869A>T (n.*869A>T) c.2344A>T (n.2344A>T) c.3988A>T (p.Asn1330Tyr) n.259A>T c.2245A>T (p.Asn749Tyr) c.3997A>T (p.Asn1333Tyr) | |
2 | g.165097356T>C | CA349025510 | SCN3A | c.4084A>G (p.Asn1362Asp) c.4135A>G (p.Asn1379Asp) c.*1976A>G (n.*1976A>G) c.*869A>G (n.*869A>G) c.2344A>G (n.2344A>G) c.3988A>G (p.Asn1330Asp) n.259A>G c.2245A>G (p.Asn749Asp) c.3997A>G (p.Asn1333Asp) | |
2 | g.165097356T>G | CA349025512 | SCN3A | c.4084A>C (p.Asn1362His) c.4135A>C (p.Asn1379His) c.*1976A>C (n.*1976A>C) c.*869A>C (n.*869A>C) c.2344A>C (n.2344A>C) c.3988A>C (p.Asn1330His) n.259A>C c.2245A>C (p.Asn749His) c.3997A>C (p.Asn1333His) | |
2 | g.165097357A>C | CA429880844 | SCN3A | c.4083T>G (p.Val1361=) c.4134T>G (p.Val1378=) c.*1975T>G (n.*1975T>G) c.*868T>G (n.*868T>G) c.2343T>G (n.2343T>G) c.3987T>G (p.Val1329=) n.258T>G c.2244T>G (p.Val748=) c.3996T>G (p.Val1332=) | |
2 | g.165097357A>G | CA429880845 | SCN3A | c.4083T>C (p.Val1361=) c.4134T>C (p.Val1378=) c.*1975T>C (n.*1975T>C) c.*868T>C (n.*868T>C) c.2343T>C (n.2343T>C) c.3987T>C (p.Val1329=) n.258T>C c.2244T>C (p.Val748=) c.3996T>C (p.Val1332=) | |
2 | g.165097357A>T | CA429880846 | SCN3A | c.4083T>A (p.Val1361=) c.4134T>A (p.Val1378=) c.*1975T>A (n.*1975T>A) c.*868T>A (n.*868T>A) c.2343T>A (n.2343T>A) c.3987T>A (p.Val1329=) n.258T>A c.2244T>A (p.Val748=) c.3996T>A (p.Val1332=) | |
2 | g.165097358A>C | CA349025513 | SCN3A | c.4082T>G (p.Val1361Gly) c.4133T>G (p.Val1378Gly) c.*1974T>G (n.*1974T>G) c.*867T>G (n.*867T>G) c.2342T>G (n.2342T>G) c.3986T>G (p.Val1329Gly) n.257T>G c.2243T>G (p.Val748Gly) c.3995T>G (p.Val1332Gly) | |
2 | g.165097358A>G | CA349025514 | SCN3A | c.4082T>C (p.Val1361Ala) c.4133T>C (p.Val1378Ala) c.*1974T>C (n.*1974T>C) c.*867T>C (n.*867T>C) c.2342T>C (n.2342T>C) c.3986T>C (p.Val1329Ala) n.257T>C c.2243T>C (p.Val748Ala) c.3995T>C (p.Val1332Ala) | |
2 | g.165097358A>T | CA349025515 | SCN3A | c.4082T>A (p.Val1361Asp) c.4133T>A (p.Val1378Asp) c.*1974T>A (n.*1974T>A) c.*867T>A (n.*867T>A) c.2342T>A (n.2342T>A) c.3986T>A (p.Val1329Asp) n.257T>A c.2243T>A (p.Val748Asp) c.3995T>A (p.Val1332Asp) | |
2 | g.165097359C>A | CA349025516 | SCN3A | c.4081G>T (p.Val1361Phe) c.4132G>T (p.Val1378Phe) c.*1973G>T (n.*1973G>T) c.*866G>T (n.*866G>T) c.2341G>T (n.2341G>T) c.3985G>T (p.Val1329Phe) n.256G>T c.2242G>T (p.Val748Phe) c.3994G>T (p.Val1332Phe) | |
2 | g.165097359C>G | CA349025517 | SCN3A | c.4081G>C (p.Val1361Leu) c.4132G>C (p.Val1378Leu) c.*1973G>C (n.*1973G>C) c.*866G>C (n.*866G>C) c.2341G>C (n.2341G>C) c.3985G>C (p.Val1329Leu) n.256G>C c.2242G>C (p.Val748Leu) c.3994G>C (p.Val1332Leu) | |
2 | g.165097359C>T | CA349025518 | SCN3A | c.4081G>A (p.Val1361Ile) c.4132G>A (p.Val1378Ile) c.*1973G>A (n.*1973G>A) c.*866G>A (n.*866G>A) c.2341G>A (n.2341G>A) c.3985G>A (p.Val1329Ile) n.256G>A c.2242G>A (p.Val748Ile) c.3994G>A (p.Val1332Ile) | |
2 | g.165097360A= | CA1304438442 | SCN3A | c.4080T= (p.Asp1360=) c.4131T= (p.Asp1377=) c.*1972T= (n.*1972T=) c.*865T= (n.*865T=) c.2340T= (n.2340T=) c.3984T= (p.Asp1328=) n.255T= c.2241T= (p.Asp747=) c.3993T= (p.Asp1331=) | |
2 | g.165097360A>C | CA349025519 | SCN3A | c.4080T>G (p.Asp1360Glu) c.4131T>G (p.Asp1377Glu) c.*1972T>G (n.*1972T>G) c.*865T>G (n.*865T>G) c.2340T>G (n.2340T>G) c.3984T>G (p.Asp1328Glu) n.255T>G c.2241T>G (p.Asp747Glu) c.3993T>G (p.Asp1331Glu) | |
2 | g.165097360A>G | CA59712718 | SCN3A | c.4080T>C (p.Asp1360=) c.4131T>C (p.Asp1377=) c.*1972T>C (n.*1972T>C) c.*865T>C (n.*865T>C) c.2340T>C (n.2340T>C) c.3984T>C (p.Asp1328=) n.255T>C c.2241T>C (p.Asp747=) c.3993T>C (p.Asp1331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097360A>T | CA349025520 | SCN3A | c.4080T>A (p.Asp1360Glu) c.4131T>A (p.Asp1377Glu) c.*1972T>A (n.*1972T>A) c.*865T>A (n.*865T>A) c.2340T>A (n.2340T>A) c.3984T>A (p.Asp1328Glu) n.255T>A c.2241T>A (p.Asp747Glu) c.3993T>A (p.Asp1331Glu) | |
2 | g.165097361T>A | CA349025521 | SCN3A | c.4079A>T (p.Asp1360Val) c.4130A>T (p.Asp1377Val) c.*1971A>T (n.*1971A>T) c.*864A>T (n.*864A>T) c.2339A>T (n.2339A>T) c.3983A>T (p.Asp1328Val) n.254A>T c.2240A>T (p.Asp747Val) c.3992A>T (p.Asp1331Val) | |
2 | g.165097361T>C | CA349025523 | SCN3A | c.4079A>G (p.Asp1360Gly) c.4130A>G (p.Asp1377Gly) c.*1971A>G (n.*1971A>G) c.*864A>G (n.*864A>G) c.2339A>G (n.2339A>G) c.3983A>G (p.Asp1328Gly) n.254A>G c.2240A>G (p.Asp747Gly) c.3992A>G (p.Asp1331Gly) | |
2 | g.165097361T>G | CA349025522 | SCN3A | c.4079A>C (p.Asp1360Ala) c.4130A>C (p.Asp1377Ala) c.*1971A>C (n.*1971A>C) c.*864A>C (n.*864A>C) c.2339A>C (n.2339A>C) c.3983A>C (p.Asp1328Ala) n.254A>C c.2240A>C (p.Asp747Ala) c.3992A>C (p.Asp1331Ala) | |
2 | g.165097362C>A | CA349025524 | SCN3A | c.4078G>T (p.Asp1360Tyr) c.4129G>T (p.Asp1377Tyr) c.*1970G>T (n.*1970G>T) c.*863G>T (n.*863G>T) c.2338G>T (n.2338G>T) c.3982G>T (p.Asp1328Tyr) n.253G>T c.2239G>T (p.Asp747Tyr) c.3991G>T (p.Asp1331Tyr) | |
2 | g.165097362C= | CA1304438443 | SCN3A | c.4078G= (p.Asp1360=) c.4129G= (p.Asp1377=) c.*1970G= (n.*1970G=) c.*863G= (n.*863G=) c.2338G= (n.2338G=) c.3982G= (p.Asp1328=) n.253G= c.2239G= (p.Asp747=) c.3991G= (p.Asp1331=) | |
2 | g.165097362C>G | CA349025525 | SCN3A | c.4078G>C (p.Asp1360His) c.4129G>C (p.Asp1377His) c.*1970G>C (n.*1970G>C) c.*863G>C (n.*863G>C) c.2338G>C (n.2338G>C) c.3982G>C (p.Asp1328His) n.253G>C c.2239G>C (p.Asp747His) c.3991G>C (p.Asp1331His) | |
2 | g.165097362C>T | CA1938641 | SCN3A | c.4078G>A (p.Asp1360Asn) c.4129G>A (p.Asp1377Asn) c.*1970G>A (n.*1970G>A) c.*863G>A (n.*863G>A) c.2338G>A (n.2338G>A) c.3982G>A (p.Asp1328Asn) n.253G>A c.2239G>A (p.Asp747Asn) c.3991G>A (p.Asp1331Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165097363A>C | CA349025526 | SCN3A | c.4077T>G (p.Ser1359Arg) c.4128T>G (p.Ser1376Arg) c.*1969T>G (n.*1969T>G) c.*862T>G (n.*862T>G) c.2337T>G (n.2337T>G) c.3981T>G (p.Ser1327Arg) n.252T>G c.2238T>G (p.Ser746Arg) c.3990T>G (p.Ser1330Arg) | |
2 | g.165097363A>G | CA429880847 | SCN3A | c.4077T>C (p.Ser1359=) c.4128T>C (p.Ser1376=) c.*1969T>C (n.*1969T>C) c.*862T>C (n.*862T>C) c.2337T>C (n.2337T>C) c.3981T>C (p.Ser1327=) n.252T>C c.2238T>C (p.Ser746=) c.3990T>C (p.Ser1330=) | |
2 | g.165097363A>T | CA349025527 | SCN3A | c.4077T>A (p.Ser1359Arg) c.4128T>A (p.Ser1376Arg) c.*1969T>A (n.*1969T>A) c.*862T>A (n.*862T>A) c.2337T>A (n.2337T>A) c.3981T>A (p.Ser1327Arg) n.252T>A c.2238T>A (p.Ser746Arg) c.3990T>A (p.Ser1330Arg) | |
2 | g.165097364C>A | CA349025528 | SCN3A | c.4076G>T (p.Ser1359Ile) c.4127G>T (p.Ser1376Ile) c.*1968G>T (n.*1968G>T) c.*861G>T (n.*861G>T) c.2336G>T (n.2336G>T) c.3980G>T (p.Ser1327Ile) n.251G>T c.2237G>T (p.Ser746Ile) c.3989G>T (p.Ser1330Ile) | |
2 | g.165097364C>G | CA349025529 | SCN3A | c.4076G>C (p.Ser1359Thr) c.4127G>C (p.Ser1376Thr) c.*1968G>C (n.*1968G>C) c.*861G>C (n.*861G>C) c.2336G>C (n.2336G>C) c.3980G>C (p.Ser1327Thr) n.251G>C c.2237G>C (p.Ser746Thr) c.3989G>C (p.Ser1330Thr) | ClinVar gnomAD v4 |
2 | g.165097364C>T | CA349025530 | SCN3A | c.4076G>A (p.Ser1359Asn) c.4127G>A (p.Ser1376Asn) c.*1968G>A (n.*1968G>A) c.*861G>A (n.*861G>A) c.2336G>A (n.2336G>A) c.3980G>A (p.Ser1327Asn) n.251G>A c.2237G>A (p.Ser746Asn) c.3989G>A (p.Ser1330Asn) | gnomAD v4 |
2 | g.165097365T>A | CA349025531 | SCN3A | c.4075A>T (p.Ser1359Cys) c.4126A>T (p.Ser1376Cys) c.*1967A>T (n.*1967A>T) c.*860A>T (n.*860A>T) c.2335A>T (n.2335A>T) c.3979A>T (p.Ser1327Cys) n.250A>T c.2236A>T (p.Ser746Cys) c.3988A>T (p.Ser1330Cys) | |
2 | g.165097365T>C | CA349025532 | SCN3A | c.4075A>G (p.Ser1359Gly) c.4126A>G (p.Ser1376Gly) c.*1967A>G (n.*1967A>G) c.*860A>G (n.*860A>G) c.2335A>G (n.2335A>G) c.3979A>G (p.Ser1327Gly) n.250A>G c.2236A>G (p.Ser746Gly) c.3988A>G (p.Ser1330Gly) | dbSNP |
2 | g.165097365T>G | CA349025533 | SCN3A | c.4075A>C (p.Ser1359Arg) c.4126A>C (p.Ser1376Arg) c.*1967A>C (n.*1967A>C) c.*860A>C (n.*860A>C) c.2335A>C (n.2335A>C) c.3979A>C (p.Ser1327Arg) n.250A>C c.2236A>C (p.Ser746Arg) c.3988A>C (p.Ser1330Arg) | |
2 | g.165097365T= | CA1304438444 | SCN3A | c.4075A= (p.Ser1359=) c.4126A= (p.Ser1376=) c.*1967A= (n.*1967A=) c.*860A= (n.*860A=) c.2335A= (n.2335A=) c.3979A= (p.Ser1327=) n.250A= c.2236A= (p.Ser746=) c.3988A= (p.Ser1330=) | |
2 | g.165097366A>C | CA349025534 | SCN3A | c.4074T>G (p.Ile1358Met) c.4125T>G (p.Ile1375Met) c.*1966T>G (n.*1966T>G) c.*859T>G (n.*859T>G) c.2334T>G (n.2334T>G) c.3978T>G (p.Ile1326Met) n.249T>G c.2235T>G (p.Ile745Met) c.3987T>G (p.Ile1329Met) | |
2 | g.165097366A>G | CA429880848 | SCN3A | c.4074T>C (p.Ile1358=) c.4125T>C (p.Ile1375=) c.*1966T>C (n.*1966T>C) c.*859T>C (n.*859T>C) c.2334T>C (n.2334T>C) c.3978T>C (p.Ile1326=) n.249T>C c.2235T>C (p.Ile745=) c.3987T>C (p.Ile1329=) | |
2 | g.165097366A>T | CA429880849 | SCN3A | c.4074T>A (p.Ile1358=) c.4125T>A (p.Ile1375=) c.*1966T>A (n.*1966T>A) c.*859T>A (n.*859T>A) c.2334T>A (n.2334T>A) c.3978T>A (p.Ile1326=) n.249T>A c.2235T>A (p.Ile745=) c.3987T>A (p.Ile1329=) | |
2 | g.165097367A>C | CA349025535 | SCN3A | c.4073T>G (p.Ile1358Ser) c.4124T>G (p.Ile1375Ser) c.*1965T>G (n.*1965T>G) c.*858T>G (n.*858T>G) c.2333T>G (n.2333T>G) c.3977T>G (p.Ile1326Ser) n.248T>G c.2234T>G (p.Ile745Ser) c.3986T>G (p.Ile1329Ser) | |
2 | g.165097367A>G | CA349025536 | SCN3A | c.4073T>C (p.Ile1358Thr) c.4124T>C (p.Ile1375Thr) c.*1965T>C (n.*1965T>C) c.*858T>C (n.*858T>C) c.2333T>C (n.2333T>C) c.3977T>C (p.Ile1326Thr) n.248T>C c.2234T>C (p.Ile745Thr) c.3986T>C (p.Ile1329Thr) | |
2 | g.165097367A>T | CA349025537 | SCN3A | c.4073T>A (p.Ile1358Asn) c.4124T>A (p.Ile1375Asn) c.*1965T>A (n.*1965T>A) c.*858T>A (n.*858T>A) c.2333T>A (n.2333T>A) c.3977T>A (p.Ile1326Asn) n.248T>A c.2234T>A (p.Ile745Asn) c.3986T>A (p.Ile1329Asn) | |
2 | g.165097368T>A | CA1938643 | SCN3A | c.4072A>T (p.Ile1358Phe) c.4123A>T (p.Ile1375Phe) c.*1964A>T (n.*1964A>T) c.*857A>T (n.*857A>T) c.2332A>T (n.2332A>T) c.3976A>T (p.Ile1326Phe) n.247A>T c.2233A>T (p.Ile745Phe) c.3985A>T (p.Ile1329Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097368T>C | CA1938642 | SCN3A | c.4072A>G (p.Ile1358Val) c.4123A>G (p.Ile1375Val) c.*1964A>G (n.*1964A>G) c.*857A>G (n.*857A>G) c.2332A>G (n.2332A>G) c.3976A>G (p.Ile1326Val) n.247A>G c.2233A>G (p.Ile745Val) c.3985A>G (p.Ile1329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165097368T>G | CA349025538 | SCN3A | c.4072A>C (p.Ile1358Leu) c.4123A>C (p.Ile1375Leu) c.*1964A>C (n.*1964A>C) c.*857A>C (n.*857A>C) c.2332A>C (n.2332A>C) c.3976A>C (p.Ile1326Leu) n.247A>C c.2233A>C (p.Ile745Leu) c.3985A>C (p.Ile1329Leu) | |
2 | g.165097368T= | CA1304438445 | SCN3A | c.4072A= (p.Ile1358=) c.4123A= (p.Ile1375=) c.*1964A= (n.*1964A=) c.*857A= (n.*857A=) c.2332A= (n.2332A=) c.3976A= (p.Ile1326=) n.247A= c.2233A= (p.Ile745=) c.3985A= (p.Ile1329=) | |
2 | g.165097369G>A | CA429880850 | SCN3A | c.4071C>T (p.Asp1357=) c.4122C>T (p.Asp1374=) c.*1963C>T (n.*1963C>T) c.*856C>T (n.*856C>T) c.2331C>T (n.2331C>T) c.3975C>T (p.Asp1325=) n.246C>T c.2232C>T (p.Asp744=) c.3984C>T (p.Asp1328=) | ClinVar |
2 | g.165097369G>C | CA349025539 | SCN3A | c.4071C>G (p.Asp1357Glu) c.4122C>G (p.Asp1374Glu) c.*1963C>G (n.*1963C>G) c.*856C>G (n.*856C>G) c.2331C>G (n.2331C>G) c.3975C>G (p.Asp1325Glu) n.246C>G c.2232C>G (p.Asp744Glu) c.3984C>G (p.Asp1328Glu) | |
2 | g.165097369G>T | CA349025540 | SCN3A | c.4071C>A (p.Asp1357Glu) c.4122C>A (p.Asp1374Glu) c.*1963C>A (n.*1963C>A) c.*856C>A (n.*856C>A) c.2331C>A (n.2331C>A) c.3975C>A (p.Asp1325Glu) n.246C>A c.2232C>A (p.Asp744Glu) c.3984C>A (p.Asp1328Glu) | |
2 | g.165097370T>A | CA1938644 | SCN3A | c.4070A>T (p.Asp1357Val) c.4121A>T (p.Asp1374Val) c.*1962A>T (n.*1962A>T) c.*855A>T (n.*855A>T) c.2330A>T (n.2330A>T) c.3974A>T (p.Asp1325Val) n.245A>T c.2231A>T (p.Asp744Val) c.3983A>T (p.Asp1328Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097370T>C | CA349025541 | SCN3A | c.4070A>G (p.Asp1357Gly) c.4121A>G (p.Asp1374Gly) c.*1962A>G (n.*1962A>G) c.*855A>G (n.*855A>G) c.2330A>G (n.2330A>G) c.3974A>G (p.Asp1325Gly) n.245A>G c.2231A>G (p.Asp744Gly) c.3983A>G (p.Asp1328Gly) | |
2 | g.165097370T>G | CA349025542 | SCN3A | c.4070A>C (p.Asp1357Ala) c.4121A>C (p.Asp1374Ala) c.*1962A>C (n.*1962A>C) c.*855A>C (n.*855A>C) c.2330A>C (n.2330A>C) c.3974A>C (p.Asp1325Ala) n.245A>C c.2231A>C (p.Asp744Ala) c.3983A>C (p.Asp1328Ala) | |
2 | g.165097370T= | CA1304438446 | SCN3A | c.4070A= (p.Asp1357=) c.4121A= (p.Asp1374=) c.*1962A= (n.*1962A=) c.*855A= (n.*855A=) c.2330A= (n.2330A=) c.3974A= (p.Asp1325=) n.245A= c.2231A= (p.Asp744=) c.3983A= (p.Asp1328=) | |
2 | g.165097371C>A | CA349025543 | SCN3A | c.4069G>T (p.Asp1357Tyr) c.4120G>T (p.Asp1374Tyr) c.*1961G>T (n.*1961G>T) c.*854G>T (n.*854G>T) c.2329G>T (n.2329G>T) c.3973G>T (p.Asp1325Tyr) n.244G>T c.2230G>T (p.Asp744Tyr) c.3982G>T (p.Asp1328Tyr) | |
2 | g.165097371C>G | CA349025544 | SCN3A | c.4069G>C (p.Asp1357His) c.4120G>C (p.Asp1374His) c.*1961G>C (n.*1961G>C) c.*854G>C (n.*854G>C) c.2329G>C (n.2329G>C) c.3973G>C (p.Asp1325His) n.244G>C c.2230G>C (p.Asp744His) c.3982G>C (p.Asp1328His) | |
2 | g.165097371C>T | CA349025545 | SCN3A | c.4069G>A (p.Asp1357Asn) c.4120G>A (p.Asp1374Asn) c.*1961G>A (n.*1961G>A) c.*854G>A (n.*854G>A) c.2329G>A (n.2329G>A) c.3973G>A (p.Asp1325Asn) n.244G>A c.2230G>A (p.Asp744Asn) c.3982G>A (p.Asp1328Asn) | |
2 | g.165097372A>C | CA349025546 | SCN3A | c.4068T>G (p.Phe1356Leu) c.4119T>G (p.Phe1373Leu) c.*1960T>G (n.*1960T>G) c.*853T>G (n.*853T>G) c.2328T>G (n.2328T>G) c.3972T>G (p.Phe1324Leu) n.243T>G c.2229T>G (p.Phe743Leu) c.3981T>G (p.Phe1327Leu) | |
2 | g.165097372A>G | CA429880851 | SCN3A | c.4068T>C (p.Phe1356=) c.4119T>C (p.Phe1373=) c.*1960T>C (n.*1960T>C) c.*853T>C (n.*853T>C) c.2328T>C (n.2328T>C) c.3972T>C (p.Phe1324=) n.243T>C c.2229T>C (p.Phe743=) c.3981T>C (p.Phe1327=) | |
2 | g.165097372A>T | CA349025547 | SCN3A | c.4068T>A (p.Phe1356Leu) c.4119T>A (p.Phe1373Leu) c.*1960T>A (n.*1960T>A) c.*853T>A (n.*853T>A) c.2328T>A (n.2328T>A) c.3972T>A (p.Phe1324Leu) n.243T>A c.2229T>A (p.Phe743Leu) c.3981T>A (p.Phe1327Leu) | |
2 | g.165097373A>C | CA349025548 | SCN3A | c.4067T>G (p.Phe1356Cys) c.4118T>G (p.Phe1373Cys) c.*1959T>G (n.*1959T>G) c.*852T>G (n.*852T>G) c.2327T>G (n.2327T>G) c.3971T>G (p.Phe1324Cys) n.242T>G c.2228T>G (p.Phe743Cys) c.3980T>G (p.Phe1327Cys) | |
2 | g.165097373A>G | CA349025549 | SCN3A | c.4067T>C (p.Phe1356Ser) c.4118T>C (p.Phe1373Ser) c.*1959T>C (n.*1959T>C) c.*852T>C (n.*852T>C) c.2327T>C (n.2327T>C) c.3971T>C (p.Phe1324Ser) n.242T>C c.2228T>C (p.Phe743Ser) c.3980T>C (p.Phe1327Ser) | |
2 | g.165097373A>T | CA349025550 | SCN3A | c.4067T>A (p.Phe1356Tyr) c.4118T>A (p.Phe1373Tyr) c.*1959T>A (n.*1959T>A) c.*852T>A (n.*852T>A) c.2327T>A (n.2327T>A) c.3971T>A (p.Phe1324Tyr) n.242T>A c.2228T>A (p.Phe743Tyr) c.3980T>A (p.Phe1327Tyr) | |
2 | g.165097374A= | CA1304438447 | SCN3A | c.4066T= (p.Phe1356=) c.4117T= (p.Phe1373=) c.*1958T= (n.*1958T=) c.*851T= (n.*851T=) c.2326T= (n.2326T=) c.3970T= (p.Phe1324=) n.241T= c.2227T= (p.Phe743=) c.3979T= (p.Phe1327=) | |
2 | g.165097374A>C | CA349025552 | SCN3A | c.4066T>G (p.Phe1356Val) c.4117T>G (p.Phe1373Val) c.*1958T>G (n.*1958T>G) c.*851T>G (n.*851T>G) c.2326T>G (n.2326T>G) c.3970T>G (p.Phe1324Val) n.241T>G c.2227T>G (p.Phe743Val) c.3979T>G (p.Phe1327Val) | |
2 | g.165097374A>G | CA59712741 | SCN3A | c.4066T>C (p.Phe1356Leu) c.4117T>C (p.Phe1373Leu) c.*1958T>C (n.*1958T>C) c.*851T>C (n.*851T>C) c.2326T>C (n.2326T>C) c.3970T>C (p.Phe1324Leu) n.241T>C c.2227T>C (p.Phe743Leu) c.3979T>C (p.Phe1327Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165097374A>T | CA349025551 | SCN3A | c.4066T>A (p.Phe1356Ile) c.4117T>A (p.Phe1373Ile) c.*1958T>A (n.*1958T>A) c.*851T>A (n.*851T>A) c.2326T>A (n.2326T>A) c.3970T>A (p.Phe1324Ile) n.241T>A c.2227T>A (p.Phe743Ile) c.3979T>A (p.Phe1327Ile) | |
2 | g.165097375C>A | CA349025553 | SCN3A | c.4065G>T (p.Met1355Ile) c.4116G>T (p.Met1372Ile) c.*1957G>T (n.*1957G>T) c.*850G>T (n.*850G>T) c.2325G>T (n.2325G>T) c.3969G>T (p.Met1323Ile) n.240G>T c.2226G>T (p.Met742Ile) c.3978G>T (p.Met1326Ile) | COSMIC COSMIC |
2 | g.165097375C>G | CA349025554 | SCN3A | c.4065G>C (p.Met1355Ile) c.4116G>C (p.Met1372Ile) c.*1957G>C (n.*1957G>C) c.*850G>C (n.*850G>C) c.2325G>C (n.2325G>C) c.3969G>C (p.Met1323Ile) n.240G>C c.2226G>C (p.Met742Ile) c.3978G>C (p.Met1326Ile) | |
2 | g.165097375C>T | CA349025555 | SCN3A | c.4065G>A (p.Met1355Ile) c.4116G>A (p.Met1372Ile) c.*1957G>A (n.*1957G>A) c.*850G>A (n.*850G>A) c.2325G>A (n.2325G>A) c.3969G>A (p.Met1323Ile) n.240G>A c.2226G>A (p.Met742Ile) c.3978G>A (p.Met1326Ile) | |
2 | g.165097376A>C | CA349025556 | SCN3A | c.4064T>G (p.Met1355Arg) c.4115T>G (p.Met1372Arg) c.*1956T>G (n.*1956T>G) c.*849T>G (n.*849T>G) c.2324T>G (n.2324T>G) c.3968T>G (p.Met1323Arg) n.239T>G c.2225T>G (p.Met742Arg) c.3977T>G (p.Met1326Arg) | |
2 | g.165097376A>G | CA349025557 | SCN3A | c.4064T>C (p.Met1355Thr) c.4115T>C (p.Met1372Thr) c.*1956T>C (n.*1956T>C) c.*849T>C (n.*849T>C) c.2324T>C (n.2324T>C) c.3968T>C (p.Met1323Thr) n.239T>C c.2225T>C (p.Met742Thr) c.3977T>C (p.Met1326Thr) | gnomAD v4 |
2 | g.165097376A>T | CA349025558 | SCN3A | c.4064T>A (p.Met1355Lys) c.4115T>A (p.Met1372Lys) c.*1956T>A (n.*1956T>A) c.*849T>A (n.*849T>A) c.2324T>A (n.2324T>A) c.3968T>A (p.Met1323Lys) n.239T>A c.2225T>A (p.Met742Lys) c.3977T>A (p.Met1326Lys) | gnomAD v4 |
2 | g.165097377T>A | CA349025559 | SCN3A | c.4063A>T (p.Met1355Leu) c.4114A>T (p.Met1372Leu) c.*1955A>T (n.*1955A>T) c.*848A>T (n.*848A>T) c.2323A>T (n.2323A>T) c.3967A>T (p.Met1323Leu) n.238A>T c.2224A>T (p.Met742Leu) c.3976A>T (p.Met1326Leu) | |
2 | g.165097377T>C | CA1938645 | SCN3A | c.4063A>G (p.Met1355Val) c.4114A>G (p.Met1372Val) c.*1955A>G (n.*1955A>G) c.*848A>G (n.*848A>G) c.2323A>G (n.2323A>G) c.3967A>G (p.Met1323Val) n.238A>G c.2224A>G (p.Met742Val) c.3976A>G (p.Met1326Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097377T>G | CA349025560 | SCN3A | c.4063A>C (p.Met1355Leu) c.4114A>C (p.Met1372Leu) c.*1955A>C (n.*1955A>C) c.*848A>C (n.*848A>C) c.2323A>C (n.2323A>C) c.3967A>C (p.Met1323Leu) n.238A>C c.2224A>C (p.Met742Leu) c.3976A>C (p.Met1326Leu) | |
2 | g.165097377T= | CA1304438448 | SCN3A | c.4063A= (p.Met1355=) c.4114A= (p.Met1372=) c.*1955A= (n.*1955A=) c.*848A= (n.*848A=) c.2323A= (n.2323A=) c.3967A= (p.Met1323=) n.238A= c.2224A= (p.Met742=) c.3976A= (p.Met1326=) | |
2 | g.165097378G>A | CA1938646 | SCN3A | c.4062C>T (p.Asn1354=) c.4113C>T (p.Asn1371=) c.*1954C>T (n.*1954C>T) c.*847C>T (n.*847C>T) c.2322C>T (n.2322C>T) c.3966C>T (p.Asn1322=) n.237C>T c.2223C>T (p.Asn741=) c.3975C>T (p.Asn1325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097378G>C | CA349025561 | SCN3A | c.4062C>G (p.Asn1354Lys) c.4113C>G (p.Asn1371Lys) c.*1954C>G (n.*1954C>G) c.*847C>G (n.*847C>G) c.2322C>G (n.2322C>G) c.3966C>G (p.Asn1322Lys) n.237C>G c.2223C>G (p.Asn741Lys) c.3975C>G (p.Asn1325Lys) | |
2 | g.165097378G= | CA1304438449 | SCN3A | c.4062C= (p.Asn1354=) c.4113C= (p.Asn1371=) c.*1954C= (n.*1954C=) c.*847C= (n.*847C=) c.2322C= (n.2322C=) c.3966C= (p.Asn1322=) n.237C= c.2223C= (p.Asn741=) c.3975C= (p.Asn1325=) | |
2 | g.165097378G>T | CA349025562 | SCN3A | c.4062C>A (p.Asn1354Lys) c.4113C>A (p.Asn1371Lys) c.*1954C>A (n.*1954C>A) c.*847C>A (n.*847C>A) c.2322C>A (n.2322C>A) c.3966C>A (p.Asn1322Lys) n.237C>A c.2223C>A (p.Asn741Lys) c.3975C>A (p.Asn1325Lys) | |
2 | g.165097379T>A | CA349025563 | SCN3A | c.4061A>T (p.Asn1354Ile) c.4112A>T (p.Asn1371Ile) c.*1953A>T (n.*1953A>T) c.*846A>T (n.*846A>T) c.2321A>T (n.2321A>T) c.3965A>T (p.Asn1322Ile) n.236A>T c.2222A>T (p.Asn741Ile) c.3974A>T (p.Asn1325Ile) | dbSNP |
2 | g.165097379T>C | CA349025565 | SCN3A | c.4061A>G (p.Asn1354Ser) c.4112A>G (p.Asn1371Ser) c.*1953A>G (n.*1953A>G) c.*846A>G (n.*846A>G) c.2321A>G (n.2321A>G) c.3965A>G (p.Asn1322Ser) n.236A>G c.2222A>G (p.Asn741Ser) c.3974A>G (p.Asn1325Ser) | COSMIC COSMIC |
2 | g.165097379T>G | CA349025564 | SCN3A | c.4061A>C (p.Asn1354Thr) c.4112A>C (p.Asn1371Thr) c.*1953A>C (n.*1953A>C) c.*846A>C (n.*846A>C) c.2321A>C (n.2321A>C) c.3965A>C (p.Asn1322Thr) n.236A>C c.2222A>C (p.Asn741Thr) c.3974A>C (p.Asn1325Thr) | |
2 | g.165097380T>A | CA349025566 | SCN3A | c.4060A>T (p.Asn1354Tyr) c.4111A>T (p.Asn1371Tyr) c.*1952A>T (n.*1952A>T) c.*845A>T (n.*845A>T) c.2320A>T (n.2320A>T) c.3964A>T (p.Asn1322Tyr) n.235A>T c.2221A>T (p.Asn741Tyr) c.3973A>T (p.Asn1325Tyr) | |
2 | g.165097380T>C | CA349025567 | SCN3A | c.4060A>G (p.Asn1354Asp) c.4111A>G (p.Asn1371Asp) c.*1952A>G (n.*1952A>G) c.*845A>G (n.*845A>G) c.2320A>G (n.2320A>G) c.3964A>G (p.Asn1322Asp) n.235A>G c.2221A>G (p.Asn741Asp) c.3973A>G (p.Asn1325Asp) | |
2 | g.165097380T>G | CA349025568 | SCN3A | c.4060A>C (p.Asn1354His) c.4111A>C (p.Asn1371His) c.*1952A>C (n.*1952A>C) c.*845A>C (n.*845A>C) c.2320A>C (n.2320A>C) c.3964A>C (p.Asn1322His) n.235A>C c.2221A>C (p.Asn741His) c.3973A>C (p.Asn1325His) | |
2 | g.165097381A>C | CA429880852 | SCN3A | c.4059T>G (p.Gly1353=) c.4110T>G (p.Gly1370=) c.*1951T>G (n.*1951T>G) c.*844T>G (n.*844T>G) c.2319T>G (n.2319T>G) c.3963T>G (p.Gly1321=) n.234T>G c.2220T>G (p.Gly740=) c.3972T>G (p.Gly1324=) | |
2 | g.165097381A>G | CA429880853 | SCN3A | c.4059T>C (p.Gly1353=) c.4110T>C (p.Gly1370=) c.*1951T>C (n.*1951T>C) c.*844T>C (n.*844T>C) c.2319T>C (n.2319T>C) c.3963T>C (p.Gly1321=) n.234T>C c.2220T>C (p.Gly740=) c.3972T>C (p.Gly1324=) | |
2 | g.165097381A>T | CA429880854 | SCN3A | c.4059T>A (p.Gly1353=) c.4110T>A (p.Gly1370=) c.*1951T>A (n.*1951T>A) c.*844T>A (n.*844T>A) c.2319T>A (n.2319T>A) c.3963T>A (p.Gly1321=) n.234T>A c.2220T>A (p.Gly740=) c.3972T>A (p.Gly1324=) | |
2 | g.165097382C>A | CA349025569 | SCN3A | c.4058G>T (p.Gly1353Val) c.4109G>T (p.Gly1370Val) c.*1950G>T (n.*1950G>T) c.*843G>T (n.*843G>T) c.2318G>T (n.2318G>T) c.3962G>T (p.Gly1321Val) n.233G>T c.2219G>T (p.Gly740Val) c.3971G>T (p.Gly1324Val) | gnomAD v4 |
2 | g.165097382C>G | CA349025570 | SCN3A | c.4058G>C (p.Gly1353Ala) c.4109G>C (p.Gly1370Ala) c.*1950G>C (n.*1950G>C) c.*843G>C (n.*843G>C) c.2318G>C (n.2318G>C) c.3962G>C (p.Gly1321Ala) n.233G>C c.2219G>C (p.Gly740Ala) c.3971G>C (p.Gly1324Ala) | |
2 | g.165097382C>T | CA349025571 | SCN3A | c.4058G>A (p.Gly1353Asp) c.4109G>A (p.Gly1370Asp) c.*1950G>A (n.*1950G>A) c.*843G>A (n.*843G>A) c.2318G>A (n.2318G>A) c.3962G>A (p.Gly1321Asp) n.233G>A c.2219G>A (p.Gly740Asp) c.3971G>A (p.Gly1324Asp) | |
2 | g.165097384del | CA645533338 | SCN3A | c.4058del (p.Gly1353ValfsTer12) c.4109del (p.Gly1370ValfsTer12) c.*1950del (n.*1950del) c.*843del (n.*843del) c.2318del (n.2318del) c.3962del (p.Gly1321ValfsTer12) n.233del c.2219del (p.Gly740ValfsTer12) c.3971del (p.Gly1324ValfsTer12) | COSMIC COSMIC |
2 | g.165097383C>A | CA349025572 | SCN3A | c.4057G>T (p.Gly1353Cys) c.4108G>T (p.Gly1370Cys) c.*1949G>T (n.*1949G>T) c.*842G>T (n.*842G>T) c.2317G>T (n.2317G>T) c.3961G>T (p.Gly1321Cys) n.232G>T c.2218G>T (p.Gly740Cys) c.3970G>T (p.Gly1324Cys) | |
2 | g.165097383C= | CA1304438450 | SCN3A | c.4057G= (p.Gly1353=) c.4108G= (p.Gly1370=) c.*1949G= (n.*1949G=) c.*842G= (n.*842G=) c.2317G= (n.2317G=) c.3961G= (p.Gly1321=) n.232G= c.2218G= (p.Gly740=) c.3970G= (p.Gly1324=) | |
2 | g.165097383C>G | CA59712760 | SCN3A | c.4057G>C (p.Gly1353Arg) c.4108G>C (p.Gly1370Arg) c.*1949G>C (n.*1949G>C) c.*842G>C (n.*842G>C) c.2317G>C (n.2317G>C) c.3961G>C (p.Gly1321Arg) n.232G>C c.2218G>C (p.Gly740Arg) c.3970G>C (p.Gly1324Arg) | dbSNP |
2 | g.165097383C>T | CA349025573 | SCN3A | c.4057G>A (p.Gly1353Ser) c.4108G>A (p.Gly1370Ser) c.*1949G>A (n.*1949G>A) c.*842G>A (n.*842G>A) c.2317G>A (n.2317G>A) c.3961G>A (p.Gly1321Ser) n.232G>A c.2218G>A (p.Gly740Ser) c.3970G>A (p.Gly1324Ser) | |
2 | g.165097384C>A | CA429880856 | SCN3A | c.4056G>T (p.Thr1352=) c.4107G>T (p.Thr1369=) c.*1948G>T (n.*1948G>T) c.*841G>T (n.*841G>T) c.2316G>T (n.2316G>T) c.3960G>T (p.Thr1320=) n.231G>T c.2217G>T (p.Thr739=) c.3969G>T (p.Thr1323=) | |
2 | g.165097384C= | CA1304438451 | SCN3A | c.4056G= (p.Thr1352=) c.4107G= (p.Thr1369=) c.*1948G= (n.*1948G=) c.*841G= (n.*841G=) c.2316G= (n.2316G=) c.3960G= (p.Thr1320=) n.231G= c.2217G= (p.Thr739=) c.3969G= (p.Thr1323=) | |
2 | g.165097384C>G | CA1938647 | SCN3A | c.4056G>C (p.Thr1352=) c.4107G>C (p.Thr1369=) c.*1948G>C (n.*1948G>C) c.*841G>C (n.*841G>C) c.2316G>C (n.2316G>C) c.3960G>C (p.Thr1320=) n.231G>C c.2217G>C (p.Thr739=) c.3969G>C (p.Thr1323=) | dbSNP ExAC gnomAD v2 |
2 | g.165097384C>T | CA429880855 | SCN3A | c.4056G>A (p.Thr1352=) c.4107G>A (p.Thr1369=) c.*1948G>A (n.*1948G>A) c.*841G>A (n.*841G>A) c.2316G>A (n.2316G>A) c.3960G>A (p.Thr1320=) n.231G>A c.2217G>A (p.Thr739=) c.3969G>A (p.Thr1323=) | dbSNP gnomAD v4 |
2 | g.165097385G>A | CA1938648 | SCN3A | c.4055C>T (p.Thr1352Met) c.4106C>T (p.Thr1369Met) c.*1947C>T (n.*1947C>T) c.*840C>T (n.*840C>T) c.2315C>T (n.2315C>T) c.3959C>T (p.Thr1320Met) n.230C>T c.2216C>T (p.Thr739Met) c.3968C>T (p.Thr1323Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097385G>C | CA349025575 | SCN3A | c.4055C>G (p.Thr1352Arg) c.4106C>G (p.Thr1369Arg) c.*1947C>G (n.*1947C>G) c.*840C>G (n.*840C>G) c.2315C>G (n.2315C>G) c.3959C>G (p.Thr1320Arg) n.230C>G c.2216C>G (p.Thr739Arg) c.3968C>G (p.Thr1323Arg) | |
2 | g.165097385G= | CA1304438452 | SCN3A | c.4055C= (p.Thr1352=) c.4106C= (p.Thr1369=) c.*1947C= (n.*1947C=) c.*840C= (n.*840C=) c.2315C= (n.2315C=) c.3959C= (p.Thr1320=) n.230C= c.2216C= (p.Thr739=) c.3968C= (p.Thr1323=) | |
2 | g.165097385G>T | CA349025574 | SCN3A | c.4055C>A (p.Thr1352Lys) c.4106C>A (p.Thr1369Lys) c.*1947C>A (n.*1947C>A) c.*840C>A (n.*840C>A) c.2315C>A (n.2315C>A) c.3959C>A (p.Thr1320Lys) n.230C>A c.2216C>A (p.Thr739Lys) c.3968C>A (p.Thr1323Lys) | COSMIC COSMIC |
2 | g.165097386T>A | CA349025578 | SCN3A | c.4054A>T (p.Thr1352Ser) c.4105A>T (p.Thr1369Ser) c.*1946A>T (n.*1946A>T) c.*839A>T (n.*839A>T) c.2314A>T (n.2314A>T) c.3958A>T (p.Thr1320Ser) n.229A>T c.2215A>T (p.Thr739Ser) c.3967A>T (p.Thr1323Ser) | |
2 | g.165097386T>C | CA349025576 | SCN3A | c.4054A>G (p.Thr1352Ala) c.4105A>G (p.Thr1369Ala) c.*1946A>G (n.*1946A>G) c.*839A>G (n.*839A>G) c.2314A>G (n.2314A>G) c.3958A>G (p.Thr1320Ala) n.229A>G c.2215A>G (p.Thr739Ala) c.3967A>G (p.Thr1323Ala) | |
2 | g.165097386T>G | CA349025577 | SCN3A | c.4054A>C (p.Thr1352Pro) c.4105A>C (p.Thr1369Pro) c.*1946A>C (n.*1946A>C) c.*839A>C (n.*839A>C) c.2314A>C (n.2314A>C) c.3958A>C (p.Thr1320Pro) n.229A>C c.2215A>C (p.Thr739Pro) c.3967A>C (p.Thr1323Pro) | |
2 | g.165097387T>A | CA429880857 | SCN3A | c.4053A>T (p.Thr1351=) c.4104A>T (p.Thr1368=) c.*1945A>T (n.*1945A>T) c.*838A>T (n.*838A>T) c.2313A>T (n.2313A>T) c.3957A>T (p.Thr1319=) n.228A>T c.2214A>T (p.Thr738=) c.3966A>T (p.Thr1322=) | |
2 | g.165097387T>C | CA429880858 | SCN3A | c.4053A>G (p.Thr1351=) c.4104A>G (p.Thr1368=) c.*1945A>G (n.*1945A>G) c.*838A>G (n.*838A>G) c.2313A>G (n.2313A>G) c.3957A>G (p.Thr1319=) n.228A>G c.2214A>G (p.Thr738=) c.3966A>G (p.Thr1322=) | |
2 | g.165097387T>G | CA429880859 | SCN3A | c.4053A>C (p.Thr1351=) c.4104A>C (p.Thr1368=) c.*1945A>C (n.*1945A>C) c.*838A>C (n.*838A>C) c.2313A>C (n.2313A>C) c.3957A>C (p.Thr1319=) n.228A>C c.2214A>C (p.Thr738=) c.3966A>C (p.Thr1322=) | |
2 | g.165097388G>A | CA349025579 | SCN3A | c.4052C>T (p.Thr1351Ile) c.4103C>T (p.Thr1368Ile) c.*1944C>T (n.*1944C>T) c.*837C>T (n.*837C>T) c.2312C>T (n.2312C>T) c.3956C>T (p.Thr1319Ile) n.227C>T c.2213C>T (p.Thr738Ile) c.3965C>T (p.Thr1322Ile) | |
2 | g.165097388G>C | CA349025580 | SCN3A | c.4052C>G (p.Thr1351Arg) c.4103C>G (p.Thr1368Arg) c.*1944C>G (n.*1944C>G) c.*837C>G (n.*837C>G) c.2312C>G (n.2312C>G) c.3956C>G (p.Thr1319Arg) n.227C>G c.2213C>G (p.Thr738Arg) c.3965C>G (p.Thr1322Arg) | |
2 | g.165097388G>T | CA349025581 | SCN3A | c.4052C>A (p.Thr1351Lys) c.4103C>A (p.Thr1368Lys) c.*1944C>A (n.*1944C>A) c.*837C>A (n.*837C>A) c.2312C>A (n.2312C>A) c.3956C>A (p.Thr1319Lys) n.227C>A c.2213C>A (p.Thr738Lys) c.3965C>A (p.Thr1322Lys) | |
2 | g.165097389T>A | CA349025584 | SCN3A | c.4051A>T (p.Thr1351Ser) c.4102A>T (p.Thr1368Ser) c.*1943A>T (n.*1943A>T) c.*836A>T (n.*836A>T) c.2311A>T (n.2311A>T) c.3955A>T (p.Thr1319Ser) n.226A>T c.2212A>T (p.Thr738Ser) c.3964A>T (p.Thr1322Ser) | |
2 | g.165097389T>C | CA349025583 | SCN3A | c.4051A>G (p.Thr1351Ala) c.4102A>G (p.Thr1368Ala) c.*1943A>G (n.*1943A>G) c.*836A>G (n.*836A>G) c.2311A>G (n.2311A>G) c.3955A>G (p.Thr1319Ala) n.226A>G c.2212A>G (p.Thr738Ala) c.3964A>G (p.Thr1322Ala) | |
2 | g.165097389T>G | CA349025582 | SCN3A | c.4051A>C (p.Thr1351Pro) c.4102A>C (p.Thr1368Pro) c.*1943A>C (n.*1943A>C) c.*836A>C (n.*836A>C) c.2311A>C (n.2311A>C) c.3955A>C (p.Thr1319Pro) n.226A>C c.2212A>C (p.Thr738Pro) c.3964A>C (p.Thr1322Pro) | |
2 | g.165097390C>A | CA349025585 | SCN3A | c.4050G>T (p.Met1350Ile) c.4101G>T (p.Met1367Ile) c.*1942G>T (n.*1942G>T) c.*835G>T (n.*835G>T) c.2310G>T (n.2310G>T) c.3954G>T (p.Met1318Ile) n.225G>T c.2211G>T (p.Met737Ile) c.3963G>T (p.Met1321Ile) | |
2 | g.165097390C= | CA1304438453 | SCN3A | c.4050G= (p.Met1350=) c.4101G= (p.Met1367=) c.*1942G= (n.*1942G=) c.*835G= (n.*835G=) c.2310G= (n.2310G=) c.3954G= (p.Met1318=) n.225G= c.2211G= (p.Met737=) c.3963G= (p.Met1321=) | |
2 | g.165097390C>G | CA349025586 | SCN3A | c.4050G>C (p.Met1350Ile) c.4101G>C (p.Met1367Ile) c.*1942G>C (n.*1942G>C) c.*835G>C (n.*835G>C) c.2310G>C (n.2310G>C) c.3954G>C (p.Met1318Ile) n.225G>C c.2211G>C (p.Met737Ile) c.3963G>C (p.Met1321Ile) | |
2 | g.165097390C>T | CA1938649 | SCN3A | c.4050G>A (p.Met1350Ile) c.4101G>A (p.Met1367Ile) c.*1942G>A (n.*1942G>A) c.*835G>A (n.*835G>A) c.2310G>A (n.2310G>A) c.3954G>A (p.Met1318Ile) n.225G>A c.2211G>A (p.Met737Ile) c.3963G>A (p.Met1321Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165097391A= | CA1304438454 | SCN3A | c.4049T= (p.Met1350=) c.4100T= (p.Met1367=) c.*1941T= (n.*1941T=) c.*834T= (n.*834T=) c.2309T= (n.2309T=) c.3953T= (p.Met1318=) n.224T= c.2210T= (p.Met737=) c.3962T= (p.Met1321=) | |
2 | g.165097391A>C | CA349025587 | SCN3A | c.4049T>G (p.Met1350Arg) c.4100T>G (p.Met1367Arg) c.*1941T>G (n.*1941T>G) c.*834T>G (n.*834T>G) c.2309T>G (n.2309T>G) c.3953T>G (p.Met1318Arg) n.224T>G c.2210T>G (p.Met737Arg) c.3962T>G (p.Met1321Arg) | gnomAD v4 |
2 | g.165097391A>G | CA59712771 | SCN3A | c.4049T>C (p.Met1350Thr) c.4100T>C (p.Met1367Thr) c.*1941T>C (n.*1941T>C) c.*834T>C (n.*834T>C) c.2309T>C (n.2309T>C) c.3953T>C (p.Met1318Thr) n.224T>C c.2210T>C (p.Met737Thr) c.3962T>C (p.Met1321Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097391A>T | CA349025588 | SCN3A | c.4049T>A (p.Met1350Lys) c.4100T>A (p.Met1367Lys) c.*1941T>A (n.*1941T>A) c.*834T>A (n.*834T>A) c.2309T>A (n.2309T>A) c.3953T>A (p.Met1318Lys) n.224T>A c.2210T>A (p.Met737Lys) c.3962T>A (p.Met1321Lys) | |
2 | g.165097392T>A | CA349025589 | SCN3A | c.4048A>T (p.Met1350Leu) c.4099A>T (p.Met1367Leu) c.*1940A>T (n.*1940A>T) c.*833A>T (n.*833A>T) c.2308A>T (n.2308A>T) c.3952A>T (p.Met1318Leu) n.223A>T c.2209A>T (p.Met737Leu) c.3961A>T (p.Met1321Leu) | |
2 | g.165097392T>C | CA349025591 | SCN3A | c.4048A>G (p.Met1350Val) c.4099A>G (p.Met1367Val) c.*1940A>G (n.*1940A>G) c.*833A>G (n.*833A>G) c.2308A>G (n.2308A>G) c.3952A>G (p.Met1318Val) n.223A>G c.2209A>G (p.Met737Val) c.3961A>G (p.Met1321Val) | |
2 | g.165097392T>G | CA349025590 | SCN3A | c.4048A>C (p.Met1350Leu) c.4099A>C (p.Met1367Leu) c.*1940A>C (n.*1940A>C) c.*833A>C (n.*833A>C) c.2308A>C (n.2308A>C) c.3952A>C (p.Met1318Leu) n.223A>C c.2209A>C (p.Met737Leu) c.3961A>C (p.Met1321Leu) | |
2 | g.165097393G>A | CA429880860 | SCN3A | c.4047C>T (p.Asn1349=) c.4098C>T (p.Asn1366=) c.*1939C>T (n.*1939C>T) c.*832C>T (n.*832C>T) c.2307C>T (n.2307C>T) c.3951C>T (p.Asn1317=) n.222C>T c.2208C>T (p.Asn736=) c.3960C>T (p.Asn1320=) | ClinVar dbSNP gnomAD v4 |
2 | g.165097393G>C | CA349025592 | SCN3A | c.4047C>G (p.Asn1349Lys) c.4098C>G (p.Asn1366Lys) c.*1939C>G (n.*1939C>G) c.*832C>G (n.*832C>G) c.2307C>G (n.2307C>G) c.3951C>G (p.Asn1317Lys) n.222C>G c.2208C>G (p.Asn736Lys) c.3960C>G (p.Asn1320Lys) | |
2 | g.165097393G>T | CA349025593 | SCN3A | c.4047C>A (p.Asn1349Lys) c.4098C>A (p.Asn1366Lys) c.*1939C>A (n.*1939C>A) c.*832C>A (n.*832C>A) c.2307C>A (n.2307C>A) c.3951C>A (p.Asn1317Lys) n.222C>A c.2208C>A (p.Asn736Lys) c.3960C>A (p.Asn1320Lys) | COSMIC COSMIC |
2 | g.165097394T>A | CA349025594 | SCN3A | c.4046A>T (p.Asn1349Ile) c.4097A>T (p.Asn1366Ile) c.*1938A>T (n.*1938A>T) c.*831A>T (n.*831A>T) c.2306A>T (n.2306A>T) c.3950A>T (p.Asn1317Ile) n.221A>T c.2207A>T (p.Asn736Ile) c.3959A>T (p.Asn1320Ile) | |
2 | g.165097394T>C | CA349025595 | SCN3A | c.4046A>G (p.Asn1349Ser) c.4097A>G (p.Asn1366Ser) c.*1938A>G (n.*1938A>G) c.*831A>G (n.*831A>G) c.2306A>G (n.2306A>G) c.3950A>G (p.Asn1317Ser) n.221A>G c.2207A>G (p.Asn736Ser) c.3959A>G (p.Asn1320Ser) | |
2 | g.165097394T>G | CA349025596 | SCN3A | c.4046A>C (p.Asn1349Thr) c.4097A>C (p.Asn1366Thr) c.*1938A>C (n.*1938A>C) c.*831A>C (n.*831A>C) c.2306A>C (n.2306A>C) c.3950A>C (p.Asn1317Thr) n.221A>C c.2207A>C (p.Asn736Thr) c.3959A>C (p.Asn1320Thr) | |
2 | g.165097395T>A | CA349025597 | SCN3A | c.4045A>T (p.Asn1349Tyr) c.4096A>T (p.Asn1366Tyr) c.*1937A>T (n.*1937A>T) c.*830A>T (n.*830A>T) c.2305A>T (n.2305A>T) c.3949A>T (p.Asn1317Tyr) n.220A>T c.2206A>T (p.Asn736Tyr) c.3958A>T (p.Asn1320Tyr) | |
2 | g.165097395T>C | CA349025598 | SCN3A | c.4045A>G (p.Asn1349Asp) c.4096A>G (p.Asn1366Asp) c.*1937A>G (n.*1937A>G) c.*830A>G (n.*830A>G) c.2305A>G (n.2305A>G) c.3949A>G (p.Asn1317Asp) n.220A>G c.2206A>G (p.Asn736Asp) c.3958A>G (p.Asn1320Asp) | dbSNP gnomAD v4 |
2 | g.165097395T>G | CA349025599 | SCN3A | c.4045A>C (p.Asn1349His) c.4096A>C (p.Asn1366His) c.*1937A>C (n.*1937A>C) c.*830A>C (n.*830A>C) c.2305A>C (n.2305A>C) c.3949A>C (p.Asn1317His) n.220A>C c.2206A>C (p.Asn736His) c.3958A>C (p.Asn1320His) | |
2 | g.165097395T= | CA1304438455 | SCN3A | c.4045A= (p.Asn1349=) c.4096A= (p.Asn1366=) c.*1937A= (n.*1937A=) c.*830A= (n.*830A=) c.2305A= (n.2305A=) c.3949A= (p.Asn1317=) n.220A= c.2206A= (p.Asn736=) c.3958A= (p.Asn1320=) | |
2 | g.165097396A>C | CA429880861 | SCN3A | c.4044T>G (p.Val1348=) c.4095T>G (p.Val1365=) c.*1936T>G (n.*1936T>G) c.*829T>G (n.*829T>G) c.2304T>G (n.2304T>G) c.3948T>G (p.Val1316=) n.219T>G c.2205T>G (p.Val735=) c.3957T>G (p.Val1319=) | |
2 | g.165097396A>G | CA429880862 | SCN3A | c.4044T>C (p.Val1348=) c.4095T>C (p.Val1365=) c.*1936T>C (n.*1936T>C) c.*829T>C (n.*829T>C) c.2304T>C (n.2304T>C) c.3948T>C (p.Val1316=) n.219T>C c.2205T>C (p.Val735=) c.3957T>C (p.Val1319=) | |
2 | g.165097396A>T | CA429880863 | SCN3A | c.4044T>A (p.Val1348=) c.4095T>A (p.Val1365=) c.*1936T>A (n.*1936T>A) c.*829T>A (n.*829T>A) c.2304T>A (n.2304T>A) c.3948T>A (p.Val1316=) n.219T>A c.2205T>A (p.Val735=) c.3957T>A (p.Val1319=) | |
2 | g.165097397A>C | CA349025600 | SCN3A | c.4043T>G (p.Val1348Gly) c.4094T>G (p.Val1365Gly) c.*1935T>G (n.*1935T>G) c.*828T>G (n.*828T>G) c.2303T>G (n.2303T>G) c.3947T>G (p.Val1316Gly) n.218T>G c.2204T>G (p.Val735Gly) c.3956T>G (p.Val1319Gly) | |
2 | g.165097397A>G | CA349025601 | SCN3A | c.4043T>C (p.Val1348Ala) c.4094T>C (p.Val1365Ala) c.*1935T>C (n.*1935T>C) c.*828T>C (n.*828T>C) c.2303T>C (n.2303T>C) c.3947T>C (p.Val1316Ala) n.218T>C c.2204T>C (p.Val735Ala) c.3956T>C (p.Val1319Ala) | |
2 | g.165097397A>T | CA349025602 | SCN3A | c.4043T>A (p.Val1348Asp) c.4094T>A (p.Val1365Asp) c.*1935T>A (n.*1935T>A) c.*828T>A (n.*828T>A) c.2303T>A (n.2303T>A) c.3947T>A (p.Val1316Asp) n.218T>A c.2204T>A (p.Val735Asp) c.3956T>A (p.Val1319Asp) | |
2 | g.165097398C>A | CA349025605 | SCN3A | c.4042G>T (p.Val1348Phe) c.4093G>T (p.Val1365Phe) c.*1934G>T (n.*1934G>T) c.*827G>T (n.*827G>T) c.2302G>T (n.2302G>T) c.3946G>T (p.Val1316Phe) n.217G>T c.2203G>T (p.Val735Phe) c.3955G>T (p.Val1319Phe) | |
2 | g.165097398C>G | CA349025604 | SCN3A | c.4042G>C (p.Val1348Leu) c.4093G>C (p.Val1365Leu) c.*1934G>C (n.*1934G>C) c.*827G>C (n.*827G>C) c.2302G>C (n.2302G>C) c.3946G>C (p.Val1316Leu) n.217G>C c.2203G>C (p.Val735Leu) c.3955G>C (p.Val1319Leu) | |
2 | g.165097398C>T | CA349025603 | SCN3A | c.4042G>A (p.Val1348Ile) c.4093G>A (p.Val1365Ile) c.*1934G>A (n.*1934G>A) c.*827G>A (n.*827G>A) c.2302G>A (n.2302G>A) c.3946G>A (p.Val1316Ile) n.217G>A c.2203G>A (p.Val735Ile) c.3955G>A (p.Val1319Ile) | |
2 | g.165097399A= | CA1304438456 | SCN3A | c.4041T= (p.Cys1347=) c.4092T= (p.Cys1364=) c.*1933T= (n.*1933T=) c.*826T= (n.*826T=) c.2301T= (n.2301T=) c.3945T= (p.Cys1315=) n.216T= c.2202T= (p.Cys734=) c.3954T= (p.Cys1318=) | |
2 | g.165097399A>C | CA349025606 | SCN3A | c.4041T>G (p.Cys1347Trp) c.4092T>G (p.Cys1364Trp) c.*1933T>G (n.*1933T>G) c.*826T>G (n.*826T>G) c.2301T>G (n.2301T>G) c.3945T>G (p.Cys1315Trp) n.216T>G c.2202T>G (p.Cys734Trp) c.3954T>G (p.Cys1318Trp) | |
2 | g.165097399A>G | CA429880864 | SCN3A | c.4041T>C (p.Cys1347=) c.4092T>C (p.Cys1364=) c.*1933T>C (n.*1933T>C) c.*826T>C (n.*826T>C) c.2301T>C (n.2301T>C) c.3945T>C (p.Cys1315=) n.216T>C c.2202T>C (p.Cys734=) c.3954T>C (p.Cys1318=) | |
2 | g.165097399A>T | CA349025607 | SCN3A | c.4041T>A (p.Cys1347Ter) c.4092T>A (p.Cys1364Ter) c.*1933T>A (n.*1933T>A) c.*826T>A (n.*826T>A) c.2301T>A (n.2301T>A) c.3945T>A (p.Cys1315Ter) n.216T>A c.2202T>A (p.Cys734Ter) c.3954T>A (p.Cys1318Ter) | dbSNP |
2 | g.165097400C>A | CA349025608 | SCN3A | c.4040G>T (p.Cys1347Phe) c.4091G>T (p.Cys1364Phe) c.*1932G>T (n.*1932G>T) c.*825G>T (n.*825G>T) c.2300G>T (n.2300G>T) c.3944G>T (p.Cys1315Phe) n.215G>T c.2201G>T (p.Cys734Phe) c.3953G>T (p.Cys1318Phe) | |
2 | g.165097400C>G | CA349025609 | SCN3A | c.4040G>C (p.Cys1347Ser) c.4091G>C (p.Cys1364Ser) c.*1932G>C (n.*1932G>C) c.*825G>C (n.*825G>C) c.2300G>C (n.2300G>C) c.3944G>C (p.Cys1315Ser) n.215G>C c.2201G>C (p.Cys734Ser) c.3953G>C (p.Cys1318Ser) | |
2 | g.165097400C>T | CA349025610 | SCN3A | c.4040G>A (p.Cys1347Tyr) c.4091G>A (p.Cys1364Tyr) c.*1932G>A (n.*1932G>A) c.*825G>A (n.*825G>A) c.2300G>A (n.2300G>A) c.3944G>A (p.Cys1315Tyr) n.215G>A c.2201G>A (p.Cys734Tyr) c.3953G>A (p.Cys1318Tyr) | |
2 | g.165097401A>C | CA349025611 | SCN3A | c.4039T>G (p.Cys1347Gly) c.4090T>G (p.Cys1364Gly) c.*1931T>G (n.*1931T>G) c.*824T>G (n.*824T>G) c.2299T>G (n.2299T>G) c.3943T>G (p.Cys1315Gly) n.214T>G c.2200T>G (p.Cys734Gly) c.3952T>G (p.Cys1318Gly) | |
2 | g.165097401A>G | CA349025612 | SCN3A | c.4039T>C (p.Cys1347Arg) c.4090T>C (p.Cys1364Arg) c.*1931T>C (n.*1931T>C) c.*824T>C (n.*824T>C) c.2299T>C (n.2299T>C) c.3943T>C (p.Cys1315Arg) n.214T>C c.2200T>C (p.Cys734Arg) c.3952T>C (p.Cys1318Arg) | |
2 | g.165097401A>T | CA349025613 | SCN3A | c.4039T>A (p.Cys1347Ser) c.4090T>A (p.Cys1364Ser) c.*1931T>A (n.*1931T>A) c.*824T>A (n.*824T>A) c.2299T>A (n.2299T>A) c.3943T>A (p.Cys1315Ser) n.214T>A c.2200T>A (p.Cys734Ser) c.3952T>A (p.Cys1318Ser) | |
2 | g.165097402G>A | CA429880865 | SCN3A | c.4038C>T (p.His1346=) c.4089C>T (p.His1363=) c.*1930C>T (n.*1930C>T) c.*823C>T (n.*823C>T) c.2298C>T (n.2298C>T) c.3942C>T (p.His1314=) n.213C>T c.2199C>T (p.His733=) c.3951C>T (p.His1317=) | COSMIC COSMIC |
2 | g.165097402G>C | CA349025614 | SCN3A | c.4038C>G (p.His1346Gln) c.4089C>G (p.His1363Gln) c.*1930C>G (n.*1930C>G) c.*823C>G (n.*823C>G) c.2298C>G (n.2298C>G) c.3942C>G (p.His1314Gln) n.213C>G c.2199C>G (p.His733Gln) c.3951C>G (p.His1317Gln) | |
2 | g.165097402G>T | CA349025615 | SCN3A | c.4038C>A (p.His1346Gln) c.4089C>A (p.His1363Gln) c.*1930C>A (n.*1930C>A) c.*823C>A (n.*823C>A) c.2298C>A (n.2298C>A) c.3942C>A (p.His1314Gln) n.213C>A c.2199C>A (p.His733Gln) c.3951C>A (p.His1317Gln) | |
2 | g.165097403T>A | CA349025616 | SCN3A | c.4037A>T (p.His1346Leu) c.4088A>T (p.His1363Leu) c.*1929A>T (n.*1929A>T) c.*822A>T (n.*822A>T) c.2297A>T (n.2297A>T) c.3941A>T (p.His1314Leu) n.212A>T c.2198A>T (p.His733Leu) c.3950A>T (p.His1317Leu) | |
2 | g.165097403T>C | CA349025617 | SCN3A | c.4037A>G (p.His1346Arg) c.4088A>G (p.His1363Arg) c.*1929A>G (n.*1929A>G) c.*822A>G (n.*822A>G) c.2297A>G (n.2297A>G) c.3941A>G (p.His1314Arg) n.212A>G c.2198A>G (p.His733Arg) c.3950A>G (p.His1317Arg) | |
2 | g.165097403T>G | CA349025618 | SCN3A | c.4037A>C (p.His1346Pro) c.4088A>C (p.His1363Pro) c.*1929A>C (n.*1929A>C) c.*822A>C (n.*822A>C) c.2297A>C (n.2297A>C) c.3941A>C (p.His1314Pro) n.212A>C c.2198A>C (p.His733Pro) c.3950A>C (p.His1317Pro) | |
2 | g.165097404G>A | CA349025621 | SCN3A | c.4036C>T (p.His1346Tyr) c.4087C>T (p.His1363Tyr) c.*1928C>T (n.*1928C>T) c.*821C>T (n.*821C>T) c.2296C>T (n.2296C>T) c.3940C>T (p.His1314Tyr) n.211C>T c.2197C>T (p.His733Tyr) c.3949C>T (p.His1317Tyr) | |
2 | g.165097404G>C | CA349025619 | SCN3A | c.4036C>G (p.His1346Asp) c.4087C>G (p.His1363Asp) c.*1928C>G (n.*1928C>G) c.*821C>G (n.*821C>G) c.2296C>G (n.2296C>G) c.3940C>G (p.His1314Asp) n.211C>G c.2197C>G (p.His733Asp) c.3949C>G (p.His1317Asp) | |
2 | g.165097404G>T | CA349025620 | SCN3A | c.4036C>A (p.His1346Asn) c.4087C>A (p.His1363Asn) c.*1928C>A (n.*1928C>A) c.*821C>A (n.*821C>A) c.2296C>A (n.2296C>A) c.3940C>A (p.His1314Asn) n.211C>A c.2197C>A (p.His733Asn) c.3949C>A (p.His1317Asn) | |
2 | g.165097405G>A | CA429880866 | SCN3A | c.4035C>T (p.Tyr1345=) c.4086C>T (p.Tyr1362=) c.*1927C>T (n.*1927C>T) c.*820C>T (n.*820C>T) c.2295C>T (n.2295C>T) c.3939C>T (p.Tyr1313=) n.210C>T c.2196C>T (p.Tyr732=) c.3948C>T (p.Tyr1316=) | gnomAD v4 |
2 | g.165097405G>C | CA349025622 | SCN3A | c.4035C>G (p.Tyr1345Ter) c.4086C>G (p.Tyr1362Ter) c.*1927C>G (n.*1927C>G) c.*820C>G (n.*820C>G) c.2295C>G (n.2295C>G) c.3939C>G (p.Tyr1313Ter) n.210C>G c.2196C>G (p.Tyr732Ter) c.3948C>G (p.Tyr1316Ter) | |
2 | g.165097405G>T | CA349025623 | SCN3A | c.4035C>A (p.Tyr1345Ter) c.4086C>A (p.Tyr1362Ter) c.*1927C>A (n.*1927C>A) c.*820C>A (n.*820C>A) c.2295C>A (n.2295C>A) c.3939C>A (p.Tyr1313Ter) n.210C>A c.2196C>A (p.Tyr732Ter) c.3948C>A (p.Tyr1316Ter) | |
2 | g.165097406T>A | CA349025624 | SCN3A | c.4034A>T (p.Tyr1345Phe) c.4085A>T (p.Tyr1362Phe) c.*1926A>T (n.*1926A>T) c.*819A>T (n.*819A>T) c.2294A>T (n.2294A>T) c.3938A>T (p.Tyr1313Phe) n.209A>T c.2195A>T (p.Tyr732Phe) c.3947A>T (p.Tyr1316Phe) | |
2 | g.165097406T>C | CA349025625 | SCN3A | c.4034A>G (p.Tyr1345Cys) c.4085A>G (p.Tyr1362Cys) c.*1926A>G (n.*1926A>G) c.*819A>G (n.*819A>G) c.2294A>G (n.2294A>G) c.3938A>G (p.Tyr1313Cys) n.209A>G c.2195A>G (p.Tyr732Cys) c.3947A>G (p.Tyr1316Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.165097406T>G | CA349025626 | SCN3A | c.4034A>C (p.Tyr1345Ser) c.4085A>C (p.Tyr1362Ser) c.*1926A>C (n.*1926A>C) c.*819A>C (n.*819A>C) c.2294A>C (n.2294A>C) c.3938A>C (p.Tyr1313Ser) n.209A>C c.2195A>C (p.Tyr732Ser) c.3947A>C (p.Tyr1316Ser) | |
2 | g.165097406T= | CA1304438457 | SCN3A | c.4034A= (p.Tyr1345=) c.4085A= (p.Tyr1362=) c.*1926A= (n.*1926A=) c.*819A= (n.*819A=) c.2294A= (n.2294A=) c.3938A= (p.Tyr1313=) n.209A= c.2195A= (p.Tyr732=) c.3947A= (p.Tyr1316=) | |
2 | g.165097407A>C | CA349025627 | SCN3A | c.4033T>G (p.Tyr1345Asp) c.4084T>G (p.Tyr1362Asp) c.*1925T>G (n.*1925T>G) c.*818T>G (n.*818T>G) c.2293T>G (n.2293T>G) c.3937T>G (p.Tyr1313Asp) n.208T>G c.2194T>G (p.Tyr732Asp) c.3946T>G (p.Tyr1316Asp) | |
2 | g.165097407A>G | CA349025628 | SCN3A | c.4033T>C (p.Tyr1345His) c.4084T>C (p.Tyr1362His) c.*1925T>C (n.*1925T>C) c.*818T>C (n.*818T>C) c.2293T>C (n.2293T>C) c.3937T>C (p.Tyr1313His) n.208T>C c.2194T>C (p.Tyr732His) c.3946T>C (p.Tyr1316His) | |
2 | g.165097407A>T | CA349025629 | SCN3A | c.4033T>A (p.Tyr1345Asn) c.4084T>A (p.Tyr1362Asn) c.*1925T>A (n.*1925T>A) c.*818T>A (n.*818T>A) c.2293T>A (n.2293T>A) c.3937T>A (p.Tyr1313Asn) n.208T>A c.2194T>A (p.Tyr732Asn) c.3946T>A (p.Tyr1316Asn) | |
2 | g.165097408G>A | CA429880867 | SCN3A | c.4032C>T (p.Phe1344=) c.4083C>T (p.Phe1361=) c.*1924C>T (n.*1924C>T) c.*817C>T (n.*817C>T) c.2292C>T (n.2292C>T) c.3936C>T (p.Phe1312=) n.207C>T c.2193C>T (p.Phe731=) c.3945C>T (p.Phe1315=) | gnomAD v4 |
2 | g.165097408G>C | CA349025630 | SCN3A | c.4032C>G (p.Phe1344Leu) c.4083C>G (p.Phe1361Leu) c.*1924C>G (n.*1924C>G) c.*817C>G (n.*817C>G) c.2292C>G (n.2292C>G) c.3936C>G (p.Phe1312Leu) n.207C>G c.2193C>G (p.Phe731Leu) c.3945C>G (p.Phe1315Leu) | |
2 | g.165097408G>T | CA349025631 | SCN3A | c.4032C>A (p.Phe1344Leu) c.4083C>A (p.Phe1361Leu) c.*1924C>A (n.*1924C>A) c.*817C>A (n.*817C>A) c.2292C>A (n.2292C>A) c.3936C>A (p.Phe1312Leu) n.207C>A c.2193C>A (p.Phe731Leu) c.3945C>A (p.Phe1315Leu) | |
2 | g.165097409A>C | CA349025632 | SCN3A | c.4031T>G (p.Phe1344Cys) c.4082T>G (p.Phe1361Cys) c.*1923T>G (n.*1923T>G) c.*816T>G (n.*816T>G) c.2291T>G (n.2291T>G) c.3935T>G (p.Phe1312Cys) n.206T>G c.2192T>G (p.Phe731Cys) c.3944T>G (p.Phe1315Cys) | |
2 | g.165097409A>G | CA349025633 | SCN3A | c.4031T>C (p.Phe1344Ser) c.4082T>C (p.Phe1361Ser) c.*1923T>C (n.*1923T>C) c.*816T>C (n.*816T>C) c.2291T>C (n.2291T>C) c.3935T>C (p.Phe1312Ser) n.206T>C c.2192T>C (p.Phe731Ser) c.3944T>C (p.Phe1315Ser) | |
2 | g.165097409A>T | CA349025634 | SCN3A | c.4031T>A (p.Phe1344Tyr) c.4082T>A (p.Phe1361Tyr) c.*1923T>A (n.*1923T>A) c.*816T>A (n.*816T>A) c.2291T>A (n.2291T>A) c.3935T>A (p.Phe1312Tyr) n.206T>A c.2192T>A (p.Phe731Tyr) c.3944T>A (p.Phe1315Tyr) | |
2 | g.165097410A>C | CA349025636 | SCN3A | c.4030T>G (p.Phe1344Val) c.4081T>G (p.Phe1361Val) c.*1922T>G (n.*1922T>G) c.*815T>G (n.*815T>G) c.2290T>G (n.2290T>G) c.3934T>G (p.Phe1312Val) n.205T>G c.2191T>G (p.Phe731Val) c.3943T>G (p.Phe1315Val) | |
2 | g.165097410A>G | CA349025637 | SCN3A | c.4030T>C (p.Phe1344Leu) c.4081T>C (p.Phe1361Leu) c.*1922T>C (n.*1922T>C) c.*815T>C (n.*815T>C) c.2290T>C (n.2290T>C) c.3934T>C (p.Phe1312Leu) n.205T>C c.2191T>C (p.Phe731Leu) c.3943T>C (p.Phe1315Leu) | |
2 | g.165097410A>T | CA349025635 | SCN3A | c.4030T>A (p.Phe1344Ile) c.4081T>A (p.Phe1361Ile) c.*1922T>A (n.*1922T>A) c.*815T>A (n.*815T>A) c.2290T>A (n.2290T>A) c.3934T>A (p.Phe1312Ile) n.205T>A c.2191T>A (p.Phe731Ile) c.3943T>A (p.Phe1315Ile) | |
2 | g.165097411C>A | CA349025638 | SCN3A | c.4029G>T (p.Lys1343Asn) c.4080G>T (p.Lys1360Asn) c.*1921G>T (n.*1921G>T) c.*814G>T (n.*814G>T) c.2289G>T (n.2289G>T) c.3933G>T (p.Lys1311Asn) n.204G>T c.2190G>T (p.Lys730Asn) c.3942G>T (p.Lys1314Asn) | |
2 | g.165097411C>G | CA349025639 | SCN3A | c.4029G>C (p.Lys1343Asn) c.4080G>C (p.Lys1360Asn) c.*1921G>C (n.*1921G>C) c.*814G>C (n.*814G>C) c.2289G>C (n.2289G>C) c.3933G>C (p.Lys1311Asn) n.204G>C c.2190G>C (p.Lys730Asn) c.3942G>C (p.Lys1314Asn) | |
2 | g.165097411C>T | CA429880868 | SCN3A | c.4029G>A (p.Lys1343=) c.4080G>A (p.Lys1360=) c.*1921G>A (n.*1921G>A) c.*814G>A (n.*814G>A) c.2289G>A (n.2289G>A) c.3933G>A (p.Lys1311=) n.204G>A c.2190G>A (p.Lys730=) c.3942G>A (p.Lys1314=) | gnomAD v4 |
2 | g.165097412T>A | CA349025640 | SCN3A | c.4028A>T (p.Lys1343Met) c.4079A>T (p.Lys1360Met) c.*1920A>T (n.*1920A>T) c.*813A>T (n.*813A>T) c.2288A>T (n.2288A>T) c.3932A>T (p.Lys1311Met) n.203A>T c.2189A>T (p.Lys730Met) c.3941A>T (p.Lys1314Met) | dbSNP |
2 | g.165097412T>C | CA349025642 | SCN3A | c.4028A>G (p.Lys1343Arg) c.4079A>G (p.Lys1360Arg) c.*1920A>G (n.*1920A>G) c.*813A>G (n.*813A>G) c.2288A>G (n.2288A>G) c.3932A>G (p.Lys1311Arg) n.203A>G c.2189A>G (p.Lys730Arg) c.3941A>G (p.Lys1314Arg) | |
2 | g.165097412T>G | CA349025641 | SCN3A | c.4028A>C (p.Lys1343Thr) c.4079A>C (p.Lys1360Thr) c.*1920A>C (n.*1920A>C) c.*813A>C (n.*813A>C) c.2288A>C (n.2288A>C) c.3932A>C (p.Lys1311Thr) n.203A>C c.2189A>C (p.Lys730Thr) c.3941A>C (p.Lys1314Thr) | |
2 | g.165097412T= | CA1304438458 | SCN3A | c.4028A= (p.Lys1343=) c.4079A= (p.Lys1360=) c.*1920A= (n.*1920A=) c.*813A= (n.*813A=) c.2288A= (n.2288A=) c.3932A= (p.Lys1311=) n.203A= c.2189A= (p.Lys730=) c.3941A= (p.Lys1314=) | |
2 | g.165097413T>A | CA349025643 | SCN3A | c.4027A>T (p.Lys1343Ter) c.4078A>T (p.Lys1360Ter) c.*1919A>T (n.*1919A>T) c.*812A>T (n.*812A>T) c.2287A>T (n.2287A>T) c.3931A>T (p.Lys1311Ter) n.202A>T c.2188A>T (p.Lys730Ter) c.3940A>T (p.Lys1314Ter) | dbSNP |
2 | g.165097413T>C | CA349025644 | SCN3A | c.4027A>G (p.Lys1343Glu) c.4078A>G (p.Lys1360Glu) c.*1919A>G (n.*1919A>G) c.*812A>G (n.*812A>G) c.2287A>G (n.2287A>G) c.3931A>G (p.Lys1311Glu) n.202A>G c.2188A>G (p.Lys730Glu) c.3940A>G (p.Lys1314Glu) | |
2 | g.165097413T>G | CA349025645 | SCN3A | c.4027A>C (p.Lys1343Gln) c.4078A>C (p.Lys1360Gln) c.*1919A>C (n.*1919A>C) c.*812A>C (n.*812A>C) c.2287A>C (n.2287A>C) c.3931A>C (p.Lys1311Gln) n.202A>C c.2188A>C (p.Lys730Gln) c.3940A>C (p.Lys1314Gln) | |
2 | g.165097413T= | CA1304438459 | SCN3A | c.4027A= (p.Lys1343=) c.4078A= (p.Lys1360=) c.*1919A= (n.*1919A=) c.*812A= (n.*812A=) c.2287A= (n.2287A=) c.3931A= (p.Lys1311=) n.202A= c.2188A= (p.Lys730=) c.3940A= (p.Lys1314=) | |
2 | g.165097414G>A | CA429880869 | SCN3A | c.4026C>T (p.Gly1342=) c.4077C>T (p.Gly1359=) c.*1918C>T (n.*1918C>T) c.*811C>T (n.*811C>T) c.2286C>T (n.2286C>T) c.3930C>T (p.Gly1310=) n.201C>T c.2187C>T (p.Gly729=) c.3939C>T (p.Gly1313=) | |
2 | g.165097414G>C | CA429880870 | SCN3A | c.4026C>G (p.Gly1342=) c.4077C>G (p.Gly1359=) c.*1918C>G (n.*1918C>G) c.*811C>G (n.*811C>G) c.2286C>G (n.2286C>G) c.3930C>G (p.Gly1310=) n.201C>G c.2187C>G (p.Gly729=) c.3939C>G (p.Gly1313=) | |
2 | g.165097414G= | CA1304438460 | SCN3A | c.4026C= (p.Gly1342=) c.4077C= (p.Gly1359=) c.*1918C= (n.*1918C=) c.*811C= (n.*811C=) c.2286C= (n.2286C=) c.3930C= (p.Gly1310=) n.201C= c.2187C= (p.Gly729=) c.3939C= (p.Gly1313=) | |
2 | g.165097414G>T | CA1938650 | SCN3A | c.4026C>A (p.Gly1342=) c.4077C>A (p.Gly1359=) c.*1918C>A (n.*1918C>A) c.*811C>A (n.*811C>A) c.2286C>A (n.2286C>A) c.3930C>A (p.Gly1310=) n.201C>A c.2187C>A (p.Gly729=) c.3939C>A (p.Gly1313=) | dbSNP ExAC |
2 | g.165097415C>A | CA349025646 | SCN3A | c.4025G>T (p.Gly1342Val) c.4076G>T (p.Gly1359Val) c.*1917G>T (n.*1917G>T) c.*810G>T (n.*810G>T) c.2285G>T (n.2285G>T) c.3929G>T (p.Gly1310Val) n.200G>T c.2186G>T (p.Gly729Val) c.3938G>T (p.Gly1313Val) | |
2 | g.165097415C>G | CA349025647 | SCN3A | c.4025G>C (p.Gly1342Ala) c.4076G>C (p.Gly1359Ala) c.*1917G>C (n.*1917G>C) c.*810G>C (n.*810G>C) c.2285G>C (n.2285G>C) c.3929G>C (p.Gly1310Ala) n.200G>C c.2186G>C (p.Gly729Ala) c.3938G>C (p.Gly1313Ala) | |
2 | g.165097415C>T | CA349025648 | SCN3A | c.4025G>A (p.Gly1342Asp) c.4076G>A (p.Gly1359Asp) c.*1917G>A (n.*1917G>A) c.*810G>A (n.*810G>A) c.2285G>A (n.2285G>A) c.3929G>A (p.Gly1310Asp) n.200G>A c.2186G>A (p.Gly729Asp) c.3938G>A (p.Gly1313Asp) | |
2 | g.165097416C>A | CA349025649 | SCN3A | c.4024G>T (p.Gly1342Cys) c.4075G>T (p.Gly1359Cys) c.*1916G>T (n.*1916G>T) c.*809G>T (n.*809G>T) c.2284G>T (n.2284G>T) c.3928G>T (p.Gly1310Cys) n.199G>T c.2185G>T (p.Gly729Cys) c.3937G>T (p.Gly1313Cys) | |
2 | g.165097416C>G | CA349025650 | SCN3A | c.4024G>C (p.Gly1342Arg) c.4075G>C (p.Gly1359Arg) c.*1916G>C (n.*1916G>C) c.*809G>C (n.*809G>C) c.2284G>C (n.2284G>C) c.3928G>C (p.Gly1310Arg) n.199G>C c.2185G>C (p.Gly729Arg) c.3937G>C (p.Gly1313Arg) | |
2 | g.165097416C>T | CA349025651 | SCN3A | c.4024G>A (p.Gly1342Ser) c.4075G>A (p.Gly1359Ser) c.*1916G>A (n.*1916G>A) c.*809G>A (n.*809G>A) c.2284G>A (n.2284G>A) c.3928G>A (p.Gly1310Ser) n.199G>A c.2185G>A (p.Gly729Ser) c.3937G>A (p.Gly1313Ser) | |
2 | g.165097417A= | CA1304438461 | SCN3A | c.4023T= (p.Ala1341=) c.4074T= (p.Ala1358=) c.*1915T= (n.*1915T=) c.*808T= (n.*808T=) c.2283T= (n.2283T=) c.3927T= (p.Ala1309=) n.198T= c.2184T= (p.Ala728=) c.3936T= (p.Ala1312=) | |
2 | g.165097417A>C | CA429880871 | SCN3A | c.4023T>G (p.Ala1341=) c.4074T>G (p.Ala1358=) c.*1915T>G (n.*1915T>G) c.*808T>G (n.*808T>G) c.2283T>G (n.2283T>G) c.3927T>G (p.Ala1309=) n.198T>G c.2184T>G (p.Ala728=) c.3936T>G (p.Ala1312=) | |
2 | g.165097417A>G | CA59712794 | SCN3A | c.4023T>C (p.Ala1341=) c.4074T>C (p.Ala1358=) c.*1915T>C (n.*1915T>C) c.*808T>C (n.*808T>C) c.2283T>C (n.2283T>C) c.3927T>C (p.Ala1309=) n.198T>C c.2184T>C (p.Ala728=) c.3936T>C (p.Ala1312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165097417A>T | CA429880872 | SCN3A | c.4023T>A (p.Ala1341=) c.4074T>A (p.Ala1358=) c.*1915T>A (n.*1915T>A) c.*808T>A (n.*808T>A) c.2283T>A (n.2283T>A) c.3927T>A (p.Ala1309=) n.198T>A c.2184T>A (p.Ala728=) c.3936T>A (p.Ala1312=) | |
2 | g.165097418G>A | CA349025652 | SCN3A | c.4022C>T (p.Ala1341Val) c.4073C>T (p.Ala1358Val) c.*1914C>T (n.*1914C>T) c.*807C>T (n.*807C>T) c.2282C>T (n.2282C>T) c.3926C>T (p.Ala1309Val) n.197C>T c.2183C>T (p.Ala728Val) c.3935C>T (p.Ala1312Val) | |
2 | g.165097418G>C | CA349025653 | SCN3A | c.4022C>G (p.Ala1341Gly) c.4073C>G (p.Ala1358Gly) c.*1914C>G (n.*1914C>G) c.*807C>G (n.*807C>G) c.2282C>G (n.2282C>G) c.3926C>G (p.Ala1309Gly) n.197C>G c.2183C>G (p.Ala728Gly) c.3935C>G (p.Ala1312Gly) | |
2 | g.165097418G= | CA1304438462 | SCN3A | c.4022C= (p.Ala1341=) c.4073C= (p.Ala1358=) c.*1914C= (n.*1914C=) c.*807C= (n.*807C=) c.2282C= (n.2282C=) c.3926C= (p.Ala1309=) n.197C= c.2183C= (p.Ala728=) c.3935C= (p.Ala1312=) | |
2 | g.165097418G>T | CA349025654 | SCN3A | c.4022C>A (p.Ala1341Asp) c.4073C>A (p.Ala1358Asp) c.*1914C>A (n.*1914C>A) c.*807C>A (n.*807C>A) c.2282C>A (n.2282C>A) c.3926C>A (p.Ala1309Asp) n.197C>A c.2183C>A (p.Ala728Asp) c.3935C>A (p.Ala1312Asp) | dbSNP |
2 | g.165097419C>A | CA349025657 | SCN3A | c.4021G>T (p.Ala1341Ser) c.4072G>T (p.Ala1358Ser) c.*1913G>T (n.*1913G>T) c.*806G>T (n.*806G>T) c.2281G>T (n.2281G>T) c.3925G>T (p.Ala1309Ser) n.196G>T c.2182G>T (p.Ala728Ser) c.3934G>T (p.Ala1312Ser) | |
2 | g.165097419C>G | CA349025655 | SCN3A | c.4021G>C (p.Ala1341Pro) c.4072G>C (p.Ala1358Pro) c.*1913G>C (n.*1913G>C) c.*806G>C (n.*806G>C) c.2281G>C (n.2281G>C) c.3925G>C (p.Ala1309Pro) n.196G>C c.2182G>C (p.Ala728Pro) c.3934G>C (p.Ala1312Pro) | |
2 | g.165097419C>T | CA349025656 | SCN3A | c.4021G>A (p.Ala1341Thr) c.4072G>A (p.Ala1358Thr) c.*1913G>A (n.*1913G>A) c.*806G>A (n.*806G>A) c.2281G>A (n.2281G>A) c.3925G>A (p.Ala1309Thr) n.196G>A c.2182G>A (p.Ala728Thr) c.3934G>A (p.Ala1312Thr) | |
2 | g.165097420A>C | CA349025658 | SCN3A | c.4020T>G (p.Phe1340Leu) c.4071T>G (p.Phe1357Leu) c.*1912T>G (n.*1912T>G) c.*805T>G (n.*805T>G) c.2280T>G (n.2280T>G) c.3924T>G (p.Phe1308Leu) n.195T>G c.2181T>G (p.Phe727Leu) c.3933T>G (p.Phe1311Leu) | |
2 | g.165097420A>G | CA429880873 | SCN3A | c.4020T>C (p.Phe1340=) c.4071T>C (p.Phe1357=) c.*1912T>C (n.*1912T>C) c.*805T>C (n.*805T>C) c.2280T>C (n.2280T>C) c.3924T>C (p.Phe1308=) n.195T>C c.2181T>C (p.Phe727=) c.3933T>C (p.Phe1311=) | |
2 | g.165097420A>T | CA349025659 | SCN3A | c.4020T>A (p.Phe1340Leu) c.4071T>A (p.Phe1357Leu) c.*1912T>A (n.*1912T>A) c.*805T>A (n.*805T>A) c.2280T>A (n.2280T>A) c.3924T>A (p.Phe1308Leu) n.195T>A c.2181T>A (p.Phe727Leu) c.3933T>A (p.Phe1311Leu) | |
2 | g.165097421A>C | CA349025660 | SCN3A | c.4019T>G (p.Phe1340Cys) c.4070T>G (p.Phe1357Cys) c.*1911T>G (n.*1911T>G) c.*804T>G (n.*804T>G) c.2279T>G (n.2279T>G) c.3923T>G (p.Phe1308Cys) n.194T>G c.2180T>G (p.Phe727Cys) c.3932T>G (p.Phe1311Cys) | |
2 | g.165097421A>G | CA349025661 | SCN3A | c.4019T>C (p.Phe1340Ser) c.4070T>C (p.Phe1357Ser) c.*1911T>C (n.*1911T>C) c.*804T>C (n.*804T>C) c.2279T>C (n.2279T>C) c.3923T>C (p.Phe1308Ser) n.194T>C c.2180T>C (p.Phe727Ser) c.3932T>C (p.Phe1311Ser) | |
2 | g.165097421A>T | CA349025662 | SCN3A | c.4019T>A (p.Phe1340Tyr) c.4070T>A (p.Phe1357Tyr) c.*1911T>A (n.*1911T>A) c.*804T>A (n.*804T>A) c.2279T>A (n.2279T>A) c.3923T>A (p.Phe1308Tyr) n.194T>A c.2180T>A (p.Phe727Tyr) c.3932T>A (p.Phe1311Tyr) | |
2 | g.165097422A>C | CA349025663 | SCN3A | c.4018T>G (p.Phe1340Val) c.4069T>G (p.Phe1357Val) c.*1910T>G (n.*1910T>G) c.*803T>G (n.*803T>G) c.2278T>G (n.2278T>G) c.3922T>G (p.Phe1308Val) n.193T>G c.2179T>G (p.Phe727Val) c.3931T>G (p.Phe1311Val) | |
2 | g.165097422A>G | CA349025664 | SCN3A | c.4018T>C (p.Phe1340Leu) c.4069T>C (p.Phe1357Leu) c.*1910T>C (n.*1910T>C) c.*803T>C (n.*803T>C) c.2278T>C (n.2278T>C) c.3922T>C (p.Phe1308Leu) n.193T>C c.2179T>C (p.Phe727Leu) c.3931T>C (p.Phe1311Leu) | |
2 | g.165097422A>T | CA349025665 | SCN3A | c.4018T>A (p.Phe1340Ile) c.4069T>A (p.Phe1357Ile) c.*1910T>A (n.*1910T>A) c.*803T>A (n.*803T>A) c.2278T>A (n.2278T>A) c.3922T>A (p.Phe1308Ile) n.193T>A c.2179T>A (p.Phe727Ile) c.3931T>A (p.Phe1311Ile) | |
2 | g.165097423C>A | CA1938651 | SCN3A | c.4017G>T (p.Leu1339Phe) c.4068G>T (p.Leu1356Phe) c.*1909G>T (n.*1909G>T) c.*802G>T (n.*802G>T) c.2277G>T (n.2277G>T) c.3921G>T (p.Leu1307Phe) n.192G>T c.2178G>T (p.Leu726Phe) c.3930G>T (p.Leu1310Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165097423C= | CA1304438463 | SCN3A | c.4017G= (p.Leu1339=) c.4068G= (p.Leu1356=) c.*1909G= (n.*1909G=) c.*802G= (n.*802G=) c.2277G= (n.2277G=) c.3921G= (p.Leu1307=) n.192G= c.2178G= (p.Leu726=) c.3930G= (p.Leu1310=) | |
2 | g.165097423C>G | CA349025666 | SCN3A | c.4017G>C (p.Leu1339Phe) c.4068G>C (p.Leu1356Phe) c.*1909G>C (n.*1909G>C) c.*802G>C (n.*802G>C) c.2277G>C (n.2277G>C) c.3921G>C (p.Leu1307Phe) n.192G>C c.2178G>C (p.Leu726Phe) c.3930G>C (p.Leu1310Phe) | dbSNP |
2 | g.165097423C>T | CA16610146 | SCN3A | c.4017G>A (p.Leu1339=) c.4068G>A (p.Leu1356=) c.*1909G>A (n.*1909G>A) c.*802G>A (n.*802G>A) c.2277G>A (n.2277G>A) c.3921G>A (p.Leu1307=) n.192G>A c.2178G>A (p.Leu726=) c.3930G>A (p.Leu1310=) | ClinVar dbSNP |
2 | g.165097424A= | CA1304438464 | SCN3A | c.4016T= (p.Leu1339=) c.4067T= (p.Leu1356=) c.*1908T= (n.*1908T=) c.*801T= (n.*801T=) c.2276T= (n.2276T=) c.3920T= (p.Leu1307=) n.191T= c.2177T= (p.Leu726=) c.3929T= (p.Leu1310=) | |
2 | g.165097424A>C | CA349025667 | SCN3A | c.4016T>G (p.Leu1339Trp) c.4067T>G (p.Leu1356Trp) c.*1908T>G (n.*1908T>G) c.*801T>G (n.*801T>G) c.2276T>G (n.2276T>G) c.3920T>G (p.Leu1307Trp) n.191T>G c.2177T>G (p.Leu726Trp) c.3929T>G (p.Leu1310Trp) | |
2 | g.165097424A>G | CA349025668 | SCN3A | c.4016T>C (p.Leu1339Ser) c.4067T>C (p.Leu1356Ser) c.*1908T>C (n.*1908T>C) c.*801T>C (n.*801T>C) c.2276T>C (n.2276T>C) c.3920T>C (p.Leu1307Ser) n.191T>C c.2177T>C (p.Leu726Ser) c.3929T>C (p.Leu1310Ser) | |
2 | g.165097424A>T | CA349025669 | SCN3A | c.4016T>A (p.Leu1339Ter) c.4067T>A (p.Leu1356Ter) c.*1908T>A (n.*1908T>A) c.*801T>A (n.*801T>A) c.2276T>A (n.2276T>A) c.3920T>A (p.Leu1307Ter) n.191T>A c.2177T>A (p.Leu726Ter) c.3929T>A (p.Leu1310Ter) | dbSNP |
2 | g.165097425A>C | CA349025670 | SCN3A | c.4015T>G (p.Leu1339Val) c.4066T>G (p.Leu1356Val) c.*1907T>G (n.*1907T>G) c.*800T>G (n.*800T>G) c.2275T>G (n.2275T>G) c.3919T>G (p.Leu1307Val) n.190T>G c.2176T>G (p.Leu726Val) c.3928T>G (p.Leu1310Val) | |
2 | g.165097425A>G | CA429880874 | SCN3A | c.4015T>C (p.Leu1339=) c.4066T>C (p.Leu1356=) c.*1907T>C (n.*1907T>C) c.*800T>C (n.*800T>C) c.2275T>C (n.2275T>C) c.3919T>C (p.Leu1307=) n.190T>C c.2176T>C (p.Leu726=) c.3928T>C (p.Leu1310=) | |
2 | g.165097425A>T | CA349025671 | SCN3A | c.4015T>A (p.Leu1339Met) c.4066T>A (p.Leu1356Met) c.*1907T>A (n.*1907T>A) c.*800T>A (n.*800T>A) c.2275T>A (n.2275T>A) c.3919T>A (p.Leu1307Met) n.190T>A c.2176T>A (p.Leu726Met) c.3928T>A (p.Leu1310Met) | |
2 | g.165097426A>C | CA349025672 | SCN3A | c.4014T>G (p.Asn1338Lys) c.4065T>G (p.Asn1355Lys) c.*1906T>G (n.*1906T>G) c.*799T>G (n.*799T>G) c.2274T>G (n.2274T>G) c.3918T>G (p.Asn1306Lys) n.189T>G c.2175T>G (p.Asn725Lys) c.3927T>G (p.Asn1309Lys) | |
2 | g.165097426A>G | CA429880875 | SCN3A | c.4014T>C (p.Asn1338=) c.4065T>C (p.Asn1355=) c.*1906T>C (n.*1906T>C) c.*799T>C (n.*799T>C) c.2274T>C (n.2274T>C) c.3918T>C (p.Asn1306=) n.189T>C c.2175T>C (p.Asn725=) c.3927T>C (p.Asn1309=) | ClinVar dbSNP |
2 | g.165097426A>T | CA349025673 | SCN3A | c.4014T>A (p.Asn1338Lys) c.4065T>A (p.Asn1355Lys) c.*1906T>A (n.*1906T>A) c.*799T>A (n.*799T>A) c.2274T>A (n.2274T>A) c.3918T>A (p.Asn1306Lys) n.189T>A c.2175T>A (p.Asn725Lys) c.3927T>A (p.Asn1309Lys) | |
2 | g.165097427T>A | CA349025674 | SCN3A | c.4013A>T (p.Asn1338Ile) c.4064A>T (p.Asn1355Ile) c.*1905A>T (n.*1905A>T) c.*798A>T (n.*798A>T) c.2273A>T (n.2273A>T) c.3917A>T (p.Asn1306Ile) n.188A>T c.2174A>T (p.Asn725Ile) c.3926A>T (p.Asn1309Ile) | |
2 | g.165097427T>C | CA349025675 | SCN3A | c.4013A>G (p.Asn1338Ser) c.4064A>G (p.Asn1355Ser) c.*1905A>G (n.*1905A>G) c.*798A>G (n.*798A>G) c.2273A>G (n.2273A>G) c.3917A>G (p.Asn1306Ser) n.188A>G c.2174A>G (p.Asn725Ser) c.3926A>G (p.Asn1309Ser) | |
2 | g.165097427T>G | CA349025676 | SCN3A | c.4013A>C (p.Asn1338Thr) c.4064A>C (p.Asn1355Thr) c.*1905A>C (n.*1905A>C) c.*798A>C (n.*798A>C) c.2273A>C (n.2273A>C) c.3917A>C (p.Asn1306Thr) n.188A>C c.2174A>C (p.Asn725Thr) c.3926A>C (p.Asn1309Thr) | |
2 | g.165097428T>A | CA349025677 | SCN3A | c.4012A>T (p.Asn1338Tyr) c.4063A>T (p.Asn1355Tyr) c.*1904A>T (n.*1904A>T) c.*797A>T (n.*797A>T) c.2272A>T (n.2272A>T) c.3916A>T (p.Asn1306Tyr) n.187A>T c.2173A>T (p.Asn725Tyr) c.3925A>T (p.Asn1309Tyr) | |
2 | g.165097428T>C | CA349025678 | SCN3A | c.4012A>G (p.Asn1338Asp) c.4063A>G (p.Asn1355Asp) c.*1904A>G (n.*1904A>G) c.*797A>G (n.*797A>G) c.2272A>G (n.2272A>G) c.3916A>G (p.Asn1306Asp) n.187A>G c.2173A>G (p.Asn725Asp) c.3925A>G (p.Asn1309Asp) | |
2 | g.165097428T>G | CA349025679 | SCN3A | c.4012A>C (p.Asn1338His) c.4063A>C (p.Asn1355His) c.*1904A>C (n.*1904A>C) c.*797A>C (n.*797A>C) c.2272A>C (n.2272A>C) c.3916A>C (p.Asn1306His) n.187A>C c.2173A>C (p.Asn725His) c.3925A>C (p.Asn1309His) | |
2 | g.165097429C>A | CA429880876 | SCN3A | c.4011G>T (p.Val1337=) c.4062G>T (p.Val1354=) c.*1903G>T (n.*1903G>T) c.*796G>T (n.*796G>T) c.2271G>T (n.2271G>T) c.3915G>T (p.Val1305=) n.186G>T c.2172G>T (p.Val724=) c.3924G>T (p.Val1308=) | |
2 | g.165097429C= | CA1304438465 | SCN3A | c.4011G= (p.Val1337=) c.4062G= (p.Val1354=) c.*1903G= (n.*1903G=) c.*796G= (n.*796G=) c.2271G= (n.2271G=) c.3915G= (p.Val1305=) n.186G= c.2172G= (p.Val724=) c.3924G= (p.Val1308=) | |
2 | g.165097429C>G | CA429880878 | SCN3A | c.4011G>C (p.Val1337=) c.4062G>C (p.Val1354=) c.*1903G>C (n.*1903G>C) c.*796G>C (n.*796G>C) c.2271G>C (n.2271G>C) c.3915G>C (p.Val1305=) n.186G>C c.2172G>C (p.Val724=) c.3924G>C (p.Val1308=) | |
2 | g.165097429C>T | CA429880877 | SCN3A | c.4011G>A (p.Val1337=) c.4062G>A (p.Val1354=) c.*1903G>A (n.*1903G>A) c.*796G>A (n.*796G>A) c.2271G>A (n.2271G>A) c.3915G>A (p.Val1305=) n.186G>A c.2172G>A (p.Val724=) c.3924G>A (p.Val1308=) | dbSNP gnomAD v4 |
2 | g.165097430A>C | CA349025680 | SCN3A | c.4010T>G (p.Val1337Gly) c.4061T>G (p.Val1354Gly) c.*1902T>G (n.*1902T>G) c.*795T>G (n.*795T>G) c.2270T>G (n.2270T>G) c.3914T>G (p.Val1305Gly) n.185T>G c.2171T>G (p.Val724Gly) c.3923T>G (p.Val1308Gly) | |
2 | g.165097430A>G | CA349025681 | SCN3A | c.4010T>C (p.Val1337Ala) c.4061T>C (p.Val1354Ala) c.*1902T>C (n.*1902T>C) c.*795T>C (n.*795T>C) c.2270T>C (n.2270T>C) c.3914T>C (p.Val1305Ala) n.185T>C c.2171T>C (p.Val724Ala) c.3923T>C (p.Val1308Ala) | |
2 | g.165097430A>T | CA349025682 | SCN3A | c.4010T>A (p.Val1337Glu) c.4061T>A (p.Val1354Glu) c.*1902T>A (n.*1902T>A) c.*795T>A (n.*795T>A) c.2270T>A (n.2270T>A) c.3914T>A (p.Val1305Glu) n.185T>A c.2171T>A (p.Val724Glu) c.3923T>A (p.Val1308Glu) | |
2 | g.165097431C>A | CA349025683 | SCN3A | c.4009G>T (p.Val1337Leu) c.4060G>T (p.Val1354Leu) c.*1901G>T (n.*1901G>T) c.*794G>T (n.*794G>T) c.2269G>T (n.2269G>T) c.3913G>T (p.Val1305Leu) n.184G>T c.2170G>T (p.Val724Leu) c.3922G>T (p.Val1308Leu) | |
2 | g.165097431C>G | CA349025684 | SCN3A | c.4009G>C (p.Val1337Leu) c.4060G>C (p.Val1354Leu) c.*1901G>C (n.*1901G>C) c.*794G>C (n.*794G>C) c.2269G>C (n.2269G>C) c.3913G>C (p.Val1305Leu) n.184G>C c.2170G>C (p.Val724Leu) c.3922G>C (p.Val1308Leu) | |
2 | g.165097431C>T | CA349025685 | SCN3A | c.4009G>A (p.Val1337Met) c.4060G>A (p.Val1354Met) c.*1901G>A (n.*1901G>A) c.*794G>A (n.*794G>A) c.2269G>A (n.2269G>A) c.3913G>A (p.Val1305Met) n.184G>A c.2170G>A (p.Val724Met) c.3922G>A (p.Val1308Met) | gnomAD v4 |
2 | g.165097432A>C | CA429880879 | SCN3A | c.4008T>G (p.Gly1336=) c.4059T>G (p.Gly1353=) c.*1900T>G (n.*1900T>G) c.*793T>G (n.*793T>G) c.2268T>G (n.2268T>G) c.3912T>G (p.Gly1304=) n.183T>G c.2169T>G (p.Gly723=) c.3921T>G (p.Gly1307=) | |
2 | g.165097432A>G | CA429880880 | SCN3A | c.4008T>C (p.Gly1336=) c.4059T>C (p.Gly1353=) c.*1900T>C (n.*1900T>C) c.*793T>C (n.*793T>C) c.2268T>C (n.2268T>C) c.3912T>C (p.Gly1304=) n.183T>C c.2169T>C (p.Gly723=) c.3921T>C (p.Gly1307=) | |
2 | g.165097432A>T | CA429880881 | SCN3A | c.4008T>A (p.Gly1336=) c.4059T>A (p.Gly1353=) c.*1900T>A (n.*1900T>A) c.*793T>A (n.*793T>A) c.2268T>A (n.2268T>A) c.3912T>A (p.Gly1304=) n.183T>A c.2169T>A (p.Gly723=) c.3921T>A (p.Gly1307=) | |
2 | g.165097433C>A | CA349025688 | SCN3A | c.4007G>T (p.Gly1336Val) c.4058G>T (p.Gly1353Val) c.*1899G>T (n.*1899G>T) c.*792G>T (n.*792G>T) c.2267G>T (n.2267G>T) c.3911G>T (p.Gly1304Val) n.182G>T c.2168G>T (p.Gly723Val) c.3920G>T (p.Gly1307Val) | |
2 | g.165097433C= | CA1304438466 | SCN3A | c.4007G= (p.Gly1336=) c.4058G= (p.Gly1353=) c.*1899G= (n.*1899G=) c.*792G= (n.*792G=) c.2267G= (n.2267G=) c.3911G= (p.Gly1304=) n.182G= c.2168G= (p.Gly723=) c.3920G= (p.Gly1307=) | |
2 | g.165097433C>G | CA349025687 | SCN3A | c.4007G>C (p.Gly1336Ala) c.4058G>C (p.Gly1353Ala) c.*1899G>C (n.*1899G>C) c.*792G>C (n.*792G>C) c.2267G>C (n.2267G>C) c.3911G>C (p.Gly1304Ala) n.182G>C c.2168G>C (p.Gly723Ala) c.3920G>C (p.Gly1307Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165097433C>T | CA349025686 | SCN3A | c.4007G>A (p.Gly1336Asp) c.4058G>A (p.Gly1353Asp) c.*1899G>A (n.*1899G>A) c.*792G>A (n.*792G>A) c.2267G>A (n.2267G>A) c.3911G>A (p.Gly1304Asp) n.182G>A c.2168G>A (p.Gly723Asp) c.3920G>A (p.Gly1307Asp) | |
2 | g.165097434C>A | CA349025689 | SCN3A | c.4006G>T (p.Gly1336Cys) c.4057G>T (p.Gly1353Cys) c.*1898G>T (n.*1898G>T) c.*791G>T (n.*791G>T) c.2266G>T (n.2266G>T) c.3910G>T (p.Gly1304Cys) n.181G>T c.2167G>T (p.Gly723Cys) c.3919G>T (p.Gly1307Cys) | |
2 | g.165097434C>G | CA349025690 | SCN3A | c.4006G>C (p.Gly1336Arg) c.4057G>C (p.Gly1353Arg) c.*1898G>C (n.*1898G>C) c.*791G>C (n.*791G>C) c.2266G>C (n.2266G>C) c.3910G>C (p.Gly1304Arg) n.181G>C c.2167G>C (p.Gly723Arg) c.3919G>C (p.Gly1307Arg) | |
2 | g.165097434C>T | CA349025691 | SCN3A | c.4006G>A (p.Gly1336Ser) c.4057G>A (p.Gly1353Ser) c.*1898G>A (n.*1898G>A) c.*791G>A (n.*791G>A) c.2266G>A (n.2266G>A) c.3910G>A (p.Gly1304Ser) n.181G>A c.2167G>A (p.Gly723Ser) c.3919G>A (p.Gly1307Ser) | |
2 | g.165097435C>A | CA349025692 | SCN3A | c.4005G>T (p.Met1335Ile) c.4056G>T (p.Met1352Ile) c.*1897G>T (n.*1897G>T) c.*790G>T (n.*790G>T) c.2265G>T (n.2265G>T) c.3909G>T (p.Met1303Ile) n.180G>T c.2166G>T (p.Met722Ile) c.3918G>T (p.Met1306Ile) | |
2 | g.165097435C>G | CA349025693 | SCN3A | c.4005G>C (p.Met1335Ile) c.4056G>C (p.Met1352Ile) c.*1897G>C (n.*1897G>C) c.*790G>C (n.*790G>C) c.2265G>C (n.2265G>C) c.3909G>C (p.Met1303Ile) n.180G>C c.2166G>C (p.Met722Ile) c.3918G>C (p.Met1306Ile) | |
2 | g.165097435C>T | CA349025694 | SCN3A | c.4005G>A (p.Met1335Ile) c.4056G>A (p.Met1352Ile) c.*1897G>A (n.*1897G>A) c.*790G>A (n.*790G>A) c.2265G>A (n.2265G>A) c.3909G>A (p.Met1303Ile) n.180G>A c.2166G>A (p.Met722Ile) c.3918G>A (p.Met1306Ile) | |
2 | g.165097436A>C | CA349025695 | SCN3A | c.4004T>G (p.Met1335Arg) c.4055T>G (p.Met1352Arg) c.*1896T>G (n.*1896T>G) c.*789T>G (n.*789T>G) c.2264T>G (n.2264T>G) c.3908T>G (p.Met1303Arg) n.179T>G c.2165T>G (p.Met722Arg) c.3917T>G (p.Met1306Arg) | |
2 | g.165097436A>G | CA349025696 | SCN3A | c.4004T>C (p.Met1335Thr) c.4055T>C (p.Met1352Thr) c.*1896T>C (n.*1896T>C) c.*789T>C (n.*789T>C) c.2264T>C (n.2264T>C) c.3908T>C (p.Met1303Thr) n.179T>C c.2165T>C (p.Met722Thr) c.3917T>C (p.Met1306Thr) | |
2 | g.165097436A>T | CA349025697 | SCN3A | c.4004T>A (p.Met1335Lys) c.4055T>A (p.Met1352Lys) c.*1896T>A (n.*1896T>A) c.*789T>A (n.*789T>A) c.2264T>A (n.2264T>A) c.3908T>A (p.Met1303Lys) n.179T>A c.2165T>A (p.Met722Lys) c.3917T>A (p.Met1306Lys) | |
2 | g.165097437T>A | CA349025698 | SCN3A | c.4003A>T (p.Met1335Leu) c.4054A>T (p.Met1352Leu) c.*1895A>T (n.*1895A>T) c.*788A>T (n.*788A>T) c.2263A>T (n.2263A>T) c.3907A>T (p.Met1303Leu) n.178A>T c.2164A>T (p.Met722Leu) c.3916A>T (p.Met1306Leu) | |
2 | g.165097437T>C | CA349025699 | SCN3A | c.4003A>G (p.Met1335Val) c.4054A>G (p.Met1352Val) c.*1895A>G (n.*1895A>G) c.*788A>G (n.*788A>G) c.2263A>G (n.2263A>G) c.3907A>G (p.Met1303Val) n.178A>G c.2164A>G (p.Met722Val) c.3916A>G (p.Met1306Val) | ClinVar gnomAD v4 COSMIC |
2 | g.165097437T>G | CA349025700 | SCN3A | c.4003A>C (p.Met1335Leu) c.4054A>C (p.Met1352Leu) c.*1895A>C (n.*1895A>C) c.*788A>C (n.*788A>C) c.2263A>C (n.2263A>C) c.3907A>C (p.Met1303Leu) n.178A>C c.2164A>C (p.Met722Leu) c.3916A>C (p.Met1306Leu) | |
2 | g.165097438G>A | CA429880883 | SCN3A | c.4002C>T (p.Ile1334=) c.4053C>T (p.Ile1351=) c.*1894C>T (n.*1894C>T) c.*787C>T (n.*787C>T) c.2262C>T (n.2262C>T) c.3906C>T (p.Ile1302=) n.177C>T c.2163C>T (p.Ile721=) c.3915C>T (p.Ile1305=) | |
2 | g.165097438G>C | CA349025701 | SCN3A | c.4002C>G (p.Ile1334Met) c.4053C>G (p.Ile1351Met) c.*1894C>G (n.*1894C>G) c.*787C>G (n.*787C>G) c.2262C>G (n.2262C>G) c.3906C>G (p.Ile1302Met) n.177C>G c.2163C>G (p.Ile721Met) c.3915C>G (p.Ile1305Met) | |
2 | g.165097438G>T | CA429880882 | SCN3A | c.4002C>A (p.Ile1334=) c.4053C>A (p.Ile1351=) c.*1894C>A (n.*1894C>A) c.*787C>A (n.*787C>A) c.2262C>A (n.2262C>A) c.3906C>A (p.Ile1302=) n.177C>A c.2163C>A (p.Ile721=) c.3915C>A (p.Ile1305=) |