Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.176626472C>A | CA362261313 | SNCB | c.208G>T (p.Val70Leu) n.805G>T c.166G>T (p.Val56Leu) | |
5 | g.176626472C= | CA1603204475 | SNCB | c.208G= (p.Val70=) n.805G= c.166G= (p.Val56=) | |
5 | g.176626472C>G | CA131869045 | SNCB | c.208G>C (p.Val70Leu) n.805G>C c.166G>C (p.Val56Leu) | dbSNP |
5 | g.176626472C>T | CA118591 | SNCB | c.208G>A (p.Val70Met) n.805G>A c.166G>A (p.Val56Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.176626473A>C | CA447706551 | SNCB | c.207T>G (p.Ala69=) n.804T>G c.165T>G (p.Ala55=) | |
5 | g.176626473A>G | CA447706552 | SNCB | c.207T>C (p.Ala69=) n.804T>C c.165T>C (p.Ala55=) | |
5 | g.176626473A>T | CA447706554 | SNCB | c.207T>A (p.Ala69=) n.804T>A c.165T>A (p.Ala55=) | |
5 | g.176626474G>A | CA362261315 | SNCB | c.206C>T (p.Ala69Val) n.803C>T c.164C>T (p.Ala55Val) | |
5 | g.176626474G>C | CA362261319 | SNCB | c.206C>G (p.Ala69Gly) n.803C>G c.164C>G (p.Ala55Gly) | |
5 | g.176626474G>T | CA362261317 | SNCB | c.206C>A (p.Ala69Asp) n.803C>A c.164C>A (p.Ala55Asp) | |
5 | g.176626475C>A | CA362261321 | SNCB | c.205G>T (p.Ala69Ser) n.802G>T c.163G>T (p.Ala55Ser) | |
5 | g.176626475C>G | CA362261323 | SNCB | c.205G>C (p.Ala69Pro) n.802G>C c.163G>C (p.Ala55Pro) | |
5 | g.176626475C>T | CA362261325 | SNCB | c.205G>A (p.Ala69Thr) n.802G>A c.163G>A (p.Ala55Thr) | |
5 | g.176626476T>A | CA447706560 | SNCB | c.204A>T (p.Gly68=) n.801A>T c.162A>T (p.Gly54=) | |
5 | g.176626476T>C | CA3572202 | SNCB | c.204A>G (p.Gly68=) n.801A>G c.162A>G (p.Gly54=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.176626476T>G | CA447706563 | SNCB | c.204A>C (p.Gly68=) n.801A>C c.162A>C (p.Gly54=) | |
5 | g.176626476T= | CA1603204553 | SNCB | c.204A= (p.Gly68=) n.801A= c.162A= (p.Gly54=) | |
5 | g.176626477C>A | CA362261331 | SNCB | c.203G>T (p.Gly68Val) n.800G>T c.161G>T (p.Gly54Val) | |
5 | g.176626477C= | CA1603204558 | SNCB | c.203G= (p.Gly68=) n.800G= c.161G= (p.Gly54=) | |
5 | g.176626477C>G | CA362261330 | SNCB | c.203G>C (p.Gly68Ala) n.800G>C c.161G>C (p.Gly54Ala) | |
5 | g.176626477C>T | CA3572203 | SNCB | c.203G>A (p.Gly68Glu) n.800G>A c.161G>A (p.Gly54Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.176626478C>A | CA362261332 | SNCB | c.202G>T (p.Gly68Ter) n.799G>T c.160G>T (p.Gly54Ter) | |
5 | g.176626478C>G | CA362261334 | SNCB | c.202G>C (p.Gly68Arg) n.799G>C c.160G>C (p.Gly54Arg) | |
5 | g.176626478C>T | CA362261333 | SNCB | c.202G>A (p.Gly68Arg) n.799G>A c.160G>A (p.Gly54Arg) | gnomAD v4 |
5 | g.176626479T>A | CA447706570 | SNCB | c.201A>T (p.Gly67=) n.798A>T c.159A>T (p.Gly53=) | |
5 | g.176626479T>C | CA447706573 | SNCB | c.201A>G (p.Gly67=) n.798A>G c.159A>G (p.Gly53=) | |
5 | g.176626479T>G | CA447706571 | SNCB | c.201A>C (p.Gly67=) n.798A>C c.159A>C (p.Gly53=) | |
5 | g.176626480C>A | CA362261336 | SNCB | c.200G>T (p.Gly67Val) n.797G>T c.158G>T (p.Gly53Val) | |
5 | g.176626480C>G | CA362261337 | SNCB | c.200G>C (p.Gly67Ala) n.797G>C c.158G>C (p.Gly53Ala) | |
5 | g.176626480C>T | CA362261339 | SNCB | c.200G>A (p.Gly67Glu) n.797G>A c.158G>A (p.Gly53Glu) | |
5 | g.176626481C>A | CA362261340 | SNCB | c.199G>T (p.Gly67Ter) n.796G>T c.157G>T (p.Gly53Ter) | |
5 | g.176626481C>G | CA362261341 | SNCB | c.199G>C (p.Gly67Arg) n.796G>C c.157G>C (p.Gly53Arg) | |
5 | g.176626481C>T | CA362261342 | SNCB | c.199G>A (p.Gly67Arg) n.796G>A c.157G>A (p.Gly53Arg) | |
5 | g.176626482C>A | CA447706579 | SNCB | c.198G>T (p.Leu66=) n.795G>T c.156G>T (p.Leu52=) | |
5 | g.176626482C>G | CA447706581 | SNCB | c.198G>C (p.Leu66=) n.795G>C c.156G>C (p.Leu52=) | |
5 | g.176626482C>T | CA447706583 | SNCB | c.198G>A (p.Leu66=) n.795G>A c.156G>A (p.Leu52=) | |
5 | g.176626483A>C | CA362261343 | SNCB | c.197T>G (p.Leu66Arg) n.794T>G c.155T>G (p.Leu52Arg) | |
5 | g.176626483A>G | CA362261344 | SNCB | c.197T>C (p.Leu66Pro) n.794T>C c.155T>C (p.Leu52Pro) | |
5 | g.176626483A>T | CA362261345 | SNCB | c.197T>A (p.Leu66Gln) n.794T>A c.155T>A (p.Leu52Gln) | |
5 | g.176626484G>A | CA447706586 | SNCB | c.196C>T (p.Leu66=) n.793C>T c.154C>T (p.Leu52=) | |
5 | g.176626484G>C | CA362261348 | SNCB | c.196C>G (p.Leu66Val) n.793C>G c.154C>G (p.Leu52Val) | |
5 | g.176626484G>T | CA362261349 | SNCB | c.196C>A (p.Leu66Met) n.793C>A c.154C>A (p.Leu52Met) | |
5 | g.176626485A>C | CA362261352 | SNCB | c.195T>G (p.His65Gln) n.792T>G c.153T>G (p.His51Gln) | |
5 | g.176626485A>G | CA447706591 | SNCB | c.195T>C (p.His65=) n.792T>C c.153T>C (p.His51=) | |
5 | g.176626485A>T | CA362261351 | SNCB | c.195T>A (p.His65Gln) n.792T>A c.153T>A (p.His51Gln) | |
5 | g.176626486T>A | CA362261354 | SNCB | c.194A>T (p.His65Leu) n.791A>T c.152A>T (p.His51Leu) | |
5 | g.176626486T>C | CA362261356 | SNCB | c.194A>G (p.His65Arg) n.791A>G c.152A>G (p.His51Arg) | |
5 | g.176626486T>G | CA362261357 | SNCB | c.194A>C (p.His65Pro) n.791A>C c.152A>C (p.His51Pro) | |
5 | g.176626487G>A | CA362261359 | SNCB | c.193C>T (p.His65Tyr) n.790C>T c.151C>T (p.His51Tyr) | |
5 | g.176626487G>C | CA362261360 | SNCB | c.193C>G (p.His65Asp) n.790C>G c.151C>G (p.His51Asp) |