Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.70642699G>A | CA357140346 | ENAM | c.1273G>A (p.Gly425Ser) n.99+4856G>A c.619G>A (p.Gly207Ser) | |
4 | g.70642699G>C | CA357140348 | ENAM | c.1273G>C (p.Gly425Arg) n.99+4856G>C c.619G>C (p.Gly207Arg) | |
4 | g.70642699G>T | CA357140351 | ENAM | c.1273G>T (p.Gly425Cys) n.99+4856G>T c.619G>T (p.Gly207Cys) | |
4 | g.70642700G>A | CA357140354 | ENAM | c.1274G>A (p.Gly425Asp) n.99+4857G>A c.620G>A (p.Gly207Asp) | gnomAD v4 |
4 | g.70642700G>C | CA357140356 | ENAM | c.1274G>C (p.Gly425Ala) n.99+4857G>C c.620G>C (p.Gly207Ala) | |
4 | g.70642700G>T | CA357140357 | ENAM | c.1274G>T (p.Gly425Val) n.99+4857G>T c.620G>T (p.Gly207Val) | |
4 | g.70642701C>A | CA439943427 | ENAM | c.1275C>A (p.Gly425=) n.99+4858C>A c.621C>A (p.Gly207=) | |
4 | g.70642701C>G | CA439943430 | ENAM | c.1275C>G (p.Gly425=) n.99+4858C>G c.621C>G (p.Gly207=) | |
4 | g.70642701C>T | CA439943433 | ENAM | c.1275C>T (p.Gly425=) n.99+4858C>T c.621C>T (p.Gly207=) | |
4 | g.70642702C>A | CA357140359 | ENAM | c.1276C>A (p.Pro426Thr) n.99+4859C>A c.622C>A (p.Pro208Thr) | |
4 | g.70642702C= | CA1466851474 | ENAM | c.1276C= (p.Pro426=) n.99+4859C= c.622C= (p.Pro208=) | |
4 | g.70642702C>G | CA357140362 | ENAM | c.1276C>G (p.Pro426Ala) n.99+4859C>G c.622C>G (p.Pro208Ala) | dbSNP |
4 | g.70642702C>T | CA357140364 | ENAM | c.1276C>T (p.Pro426Ser) n.99+4859C>T c.622C>T (p.Pro208Ser) | |
4 | g.70642703C>A | CA357140367 | ENAM | c.1277C>A (p.Pro426His) n.99+4860C>A c.623C>A (p.Pro208His) | |
4 | g.70642703C>G | CA357140369 | ENAM | c.1277C>G (p.Pro426Arg) n.99+4860C>G c.623C>G (p.Pro208Arg) | |
4 | g.70642703C>T | CA357140371 | ENAM | c.1277C>T (p.Pro426Leu) n.99+4860C>T c.623C>T (p.Pro208Leu) | |
4 | g.70642703_70642706delinsCTGT | CA1466851479 | ENAM | c.1277_1280delinsCTGT (p.Pro426=) n.99+4860_99+4863delinsCTGT c.623_626delinsCTGT (p.Pro208=) | |
4 | g.70642704T>A | CA439943446 | ENAM | c.1278T>A (p.Pro426=) n.99+4861T>A c.624T>A (p.Pro208=) | |
4 | g.70642704T>C | CA439943450 | ENAM | c.1278T>C (p.Pro426=) n.99+4861T>C c.624T>C (p.Pro208=) | |
4 | g.70642704T>G | CA439943443 | ENAM | c.1278T>G (p.Pro426=) n.99+4861T>G c.624T>G (p.Pro208=) | |
4 | g.70642708_70642710del | CA99035572 | ENAM | c.1282_1284del (p.Val428del) n.99+4865_99+4867del c.628_630del (p.Val210del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.70642705G>A | CA357140378 | ENAM | c.1279G>A (p.Val427Ile) n.99+4862G>A c.625G>A (p.Val209Ile) | |
4 | g.70642705G>C | CA357140376 | ENAM | c.1279G>C (p.Val427Leu) n.99+4862G>C c.625G>C (p.Val209Leu) | |
4 | g.70642705G>T | CA357140379 | ENAM | c.1279G>T (p.Val427Phe) n.99+4862G>T c.625G>T (p.Val209Phe) | |
4 | g.70642706T>A | CA357140382 | ENAM | c.1280T>A (p.Val427Asp) n.99+4863T>A c.626T>A (p.Val209Asp) | |
4 | g.70642706T>C | CA357140385 | ENAM | c.1280T>C (p.Val427Ala) n.99+4863T>C c.626T>C (p.Val209Ala) | |
4 | g.70642706T>G | CA357140384 | ENAM | c.1280T>G (p.Val427Gly) n.99+4863T>G c.626T>G (p.Val209Gly) | |
4 | g.70642707T>A | CA439943463 | ENAM | c.1281T>A (p.Val427=) n.99+4864T>A c.627T>A (p.Val209=) | |
4 | g.70642707T>C | CA439943465 | ENAM | c.1281T>C (p.Val427=) n.99+4864T>C c.627T>C (p.Val209=) | |
4 | g.70642707T>G | CA2952101 | ENAM | c.1281T>G (p.Val427=) n.99+4864T>G c.627T>G (p.Val209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.70642707T= | CA1466851486 | ENAM | c.1281T= (p.Val427=) n.99+4864T= c.627T= (p.Val209=) | |
4 | g.70642708G>A | CA357140389 | ENAM | c.1282G>A (p.Val428Ile) n.99+4865G>A c.628G>A (p.Val210Ile) | |
4 | g.70642708G>C | CA357140391 | ENAM | c.1282G>C (p.Val428Leu) n.99+4865G>C c.628G>C (p.Val210Leu) | |
4 | g.70642708G= | CA1466851490 | ENAM | c.1282G= (p.Val428=) n.99+4865G= c.628G= (p.Val210=) | |
4 | g.70642708G>T | CA357140393 | ENAM | c.1282G>T (p.Val428Phe) n.99+4865G>T c.628G>T (p.Val210Phe) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.70642709T>A | CA357140396 | ENAM | c.1283T>A (p.Val428Asp) n.99+4866T>A c.629T>A (p.Val210Asp) | |
4 | g.70642709T>C | CA357140397 | ENAM | c.1283T>C (p.Val428Ala) n.99+4866T>C c.629T>C (p.Val210Ala) | dbSNP gnomAD v4 |
4 | g.70642709T>G | CA357140398 | ENAM | c.1283T>G (p.Val428Gly) n.99+4866T>G c.629T>G (p.Val210Gly) | |
4 | g.70642709T= | CA1466851492 | ENAM | c.1283T= (p.Val428=) n.99+4866T= c.629T= (p.Val210=) | |
4 | g.70642710T>A | CA439943480 | ENAM | c.1284T>A (p.Val428=) n.99+4867T>A c.630T>A (p.Val210=) | |
4 | g.70642710T>C | CA439943481 | ENAM | c.1284T>C (p.Val428=) n.99+4867T>C c.630T>C (p.Val210=) | |
4 | g.70642710T>G | CA439943482 | ENAM | c.1284T>G (p.Val428=) n.99+4867T>G c.630T>G (p.Val210=) | |
4 | g.70642711C>A | CA357140402 | ENAM | c.1285C>A (p.Arg429Ser) n.99+4868C>A c.631C>A (p.Arg211Ser) | |
4 | g.70642711C= | CA1466851498 | ENAM | c.1285C= (p.Arg429=) n.99+4868C= c.631C= (p.Arg211=) | |
4 | g.70642711C>G | CA357140404 | ENAM | c.1285C>G (p.Arg429Gly) n.99+4868C>G c.631C>G (p.Arg211Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.70642711C>T | CA357140406 | ENAM | c.1285C>T (p.Arg429Cys) n.99+4868C>T c.631C>T (p.Arg211Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.70642712G>A | CA2952102 | ENAM | c.1286G>A (p.Arg429His) n.99+4869G>A c.632G>A (p.Arg211His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.70642712G>C | CA357140410 | ENAM | c.1286G>C (p.Arg429Pro) n.99+4869G>C c.632G>C (p.Arg211Pro) | |
4 | g.70642712G= | CA1466851503 | ENAM | c.1286G= (p.Arg429=) n.99+4869G= c.632G= (p.Arg211=) | |
4 | g.70642712G>T | CA2952103 | ENAM | c.1286G>T (p.Arg429Leu) n.99+4869G>T c.632G>T (p.Arg211Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |