Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41771654G>A | CA8565562 | JUP | c.201C>T (p.Pro67=) n.329C>T c.252C>T (p.Pro84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41771654G>C | CA500025655 | JUP | c.201C>G (p.Pro67=) n.329C>G c.252C>G (p.Pro84=) | |
17 | g.41771654G= | CA2260177234 | JUP | c.201C= (p.Pro67=) n.329C= c.252C= (p.Pro84=) | |
17 | g.41771654G>T | CA500025657 | JUP | c.201C>A (p.Pro67=) n.329C>A c.252C>A (p.Pro84=) | gnomAD v4 |
17 | g.41771659dup | CA626216164 | JUP | c.201dup (p.Ser68GlnfsTer4) n.329dup c.252dup (p.Ser85GlnfsTer4) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.41771659del | CA2576269042 | JUP | c.201del (p.Ser68AlafsTer?) n.329del c.252del (p.Ser85AlafsTer?) | |
17 | g.41771655G>A | CA399506547 | JUP | c.200C>T (p.Pro67Leu) n.328C>T c.251C>T (p.Pro84Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41771655G>C | CA399506549 | JUP | c.200C>G (p.Pro67Arg) n.328C>G c.251C>G (p.Pro84Arg) | |
17 | g.41771655G= | CA2260177235 | JUP | c.200C= (p.Pro67=) n.328C= c.251C= (p.Pro84=) | |
17 | g.41771655G>T | CA399506552 | JUP | c.200C>A (p.Pro67His) n.328C>A c.251C>A (p.Pro84His) | |
17 | g.41771656G>A | CA399506559 | JUP | c.199C>T (p.Pro67Ser) n.327C>T c.250C>T (p.Pro84Ser) | gnomAD v4 COSMIC |
17 | g.41771656G>C | CA399506556 | JUP | c.199C>G (p.Pro67Ala) n.327C>G c.250C>G (p.Pro84Ala) | |
17 | g.41771656G>T | CA399506554 | JUP | c.199C>A (p.Pro67Thr) n.327C>A c.250C>A (p.Pro84Thr) | |
17 | g.41771657G>A | CA500025663 | JUP | c.198C>T (p.Pro66=) n.326C>T c.249C>T (p.Pro83=) | gnomAD v4 |
17 | g.41771657G>C | CA500025665 | JUP | c.198C>G (p.Pro66=) n.326C>G c.249C>G (p.Pro83=) | |
17 | g.41771657G>T | CA500025666 | JUP | c.198C>A (p.Pro66=) n.326C>A c.249C>A (p.Pro83=) | |
17 | g.41771658G>A | CA8565563 | JUP | c.197C>T (p.Pro66Leu) n.325C>T c.248C>T (p.Pro83Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41771658G>C | CA399506567 | JUP | c.197C>G (p.Pro66Arg) n.325C>G c.248C>G (p.Pro83Arg) | |
17 | g.41771658G= | CA2260177236 | JUP | c.197C= (p.Pro66=) n.325C= c.248C= (p.Pro83=) | |
17 | g.41771658G>T | CA399506563 | JUP | c.197C>A (p.Pro66His) n.325C>A c.248C>A (p.Pro83His) | |
17 | g.41771659G>A | CA399506570 | JUP | c.196C>T (p.Pro66Ser) n.324C>T c.247C>T (p.Pro83Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41771659G>C | CA399506573 | JUP | c.196C>G (p.Pro66Ala) n.324C>G c.247C>G (p.Pro83Ala) | |
17 | g.41771659G= | CA2260177237 | JUP | c.196C= (p.Pro66=) n.324C= c.247C= (p.Pro83=) | |
17 | g.41771659G>T | CA399506574 | JUP | c.196C>A (p.Pro66Thr) n.324C>A c.247C>A (p.Pro83Thr) | |
17 | g.41771660C>A | CA500025674 | JUP | c.195G>T (p.Val65=) n.323G>T c.246G>T (p.Val82=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41771660C= | CA2260177238 | JUP | c.195G= (p.Val65=) n.323G= c.246G= (p.Val82=) | |
17 | g.41771660C>G | CA500025676 | JUP | c.195G>C (p.Val65=) n.323G>C c.246G>C (p.Val82=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41771660C>T | CA500025679 | JUP | c.195G>A (p.Val65=) n.323G>A c.246G>A (p.Val82=) | dbSNP gnomAD v4 |
17 | g.41771661_41771666del | CA2637860491 | JUP | c.190_195del (p.Gly64_Val65del) n.318_323del c.241_246del (p.Gly81_Val82del) | gnomAD v4 |
17 | g.41771661A= | CA2260177239 | JUP | c.194T= (p.Val65=) n.322T= c.245T= (p.Val82=) | |
17 | g.41771661A>C | CA399506576 | JUP | c.194T>G (p.Val65Gly) n.322T>G c.245T>G (p.Val82Gly) | |
17 | g.41771661A>G | CA399506578 | JUP | c.194T>C (p.Val65Ala) n.322T>C c.245T>C (p.Val82Ala) | |
17 | g.41771661A>T | CA399506579 | JUP | c.194T>A (p.Val65Glu) n.322T>A c.245T>A (p.Val82Glu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41771662C>A | CA176414 | JUP | c.193G>T (p.Val65Leu) n.321G>T c.244G>T (p.Val82Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.41771662C= | CA2260177240 | JUP | c.193G= (p.Val65=) n.321G= c.244G= (p.Val82=) | |
17 | g.41771662C>G | CA399506585 | JUP | c.193G>C (p.Val65Leu) n.321G>C c.244G>C (p.Val82Leu) | |
17 | g.41771662C>T | CA399506588 | JUP | c.193G>A (p.Val65Met) n.321G>A c.244G>A (p.Val82Met) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.41771663C>A | CA500025682 | JUP | c.192G>T (p.Gly64=) n.320G>T c.243G>T (p.Gly81=) | gnomAD v4 |
17 | g.41771663C= | CA2260177241 | JUP | c.192G= (p.Gly64=) n.320G= c.243G= (p.Gly81=) | |
17 | g.41771663C>G | CA500025685 | JUP | c.192G>C (p.Gly64=) n.320G>C c.243G>C (p.Gly81=) | gnomAD v4 |
17 | g.41771663C>T | CA8565564 | JUP | c.192G>A (p.Gly64=) n.320G>A c.243G>A (p.Gly81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41771664C>A | CA399506597 | JUP | c.191G>T (p.Gly64Val) n.319G>T c.242G>T (p.Gly81Val) | |
17 | g.41771664C>G | CA399506596 | JUP | c.191G>C (p.Gly64Ala) n.319G>C c.242G>C (p.Gly81Ala) | COSMIC |
17 | g.41771664C>T | CA399506593 | JUP | c.191G>A (p.Gly64Glu) n.319G>A c.242G>A (p.Gly81Glu) | |
17 | g.41771665C>A | CA399506599 | JUP | c.190G>T (p.Gly64Trp) n.318G>T c.241G>T (p.Gly81Trp) | |
17 | g.41771665C= | CA2260177242 | JUP | c.190G= (p.Gly64=) n.318G= c.241G= (p.Gly81=) | |
17 | g.41771665C>G | CA399506601 | JUP | c.190G>C (p.Gly64Arg) n.318G>C c.241G>C (p.Gly81Arg) | |
17 | g.41771665C>T | CA399506604 | JUP | c.190G>A (p.Gly64Arg) n.318G>A c.241G>A (p.Gly81Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41771666C>A | CA399506606 | JUP | c.189G>T (p.Gln63His) n.317G>T c.240G>T (p.Gln80His) | |
17 | g.41771666C>G | CA399506608 | JUP | c.189G>C (p.Gln63His) n.317G>C c.240G>C (p.Gln80His) |