| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 17 | g.41771666C>T | CA500025694 | JUP | c.189G>A (p.Gln63=) n.317G>A c.240G>A (p.Gln80=) | COSMIC |
| 17 | g.41771666_41771667delinsCT | CA2260177243 | JUP | c.188_189delinsAG (p.Gln63=) n.316_317delinsAG c.239_240delinsAG (p.Gln80=) | |
| 17 | g.41771667del | CA658658618 | JUP | c.188del (p.Gln63ArgfsTer?) n.316del c.239del (p.Gln80ArgfsTer?) | ClinVar dbSNP |
| 17 | g.41771667T>A | CA399506612 | JUP | c.188A>T (p.Gln63Leu) n.316A>T c.239A>T (p.Gln80Leu) | |
| 17 | g.41771667T>C | CA399506615 | JUP | c.188A>G (p.Gln63Arg) n.316A>G c.239A>G (p.Gln80Arg) | ClinVar |
| 17 | g.41771667T>G | CA399506617 | JUP | c.188A>C (p.Gln63Pro) n.316A>C c.239A>C (p.Gln80Pro) | |
| 17 | g.41771668G>A | CA399506620 | JUP | c.187C>T (p.Gln63Ter) n.315C>T c.238C>T (p.Gln80Ter) | |
| 17 | g.41771668G>C | CA399506623 | JUP | c.187C>G (p.Gln63Glu) n.315C>G c.238C>G (p.Gln80Glu) | gnomAD v4 |
| 17 | g.41771668G>T | CA399506624 | JUP | c.187C>A (p.Gln63Lys) n.315C>A c.238C>A (p.Gln80Lys) | |
| 17 | g.41771669G>A | CA8565565 | JUP | c.186C>T (p.Thr62=) n.314C>T c.237C>T (p.Thr79=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771669G>C | CA500025704 | JUP | c.186C>G (p.Thr62=) n.314C>G c.237C>G (p.Thr79=) | |
| 17 | g.41771669G= | CA2260177244 | JUP | c.186C= (p.Thr62=) n.314C= c.237C= (p.Thr79=) | |
| 17 | g.41771669G>T | CA500025706 | JUP | c.186C>A (p.Thr62=) n.314C>A c.237C>A (p.Thr79=) | |
| 17 | g.41771673_41771681del | CA2576269043 | JUP | c.178_186del (p.Thr60_Thr62del) n.306_314del c.229_237del (p.Thr77_Thr79del) | ClinVar |
| 17 | g.41771670G>A | CA399506632 | JUP | c.185C>T (p.Thr62Ile) n.313C>T c.236C>T (p.Thr79Ile) | |
| 17 | g.41771670G>C | CA399506634 | JUP | c.185C>G (p.Thr62Ser) n.313C>G c.236C>G (p.Thr79Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771670G= | CA2260177245 | JUP | c.185C= (p.Thr62=) n.313C= c.236C= (p.Thr79=) | |
| 17 | g.41771670G>T | CA399506629 | JUP | c.185C>A (p.Thr62Asn) n.313C>A c.236C>A (p.Thr79Asn) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771671T>A | CA399506638 | JUP | c.184A>T (p.Thr62Ser) n.312A>T c.235A>T (p.Thr79Ser) | |
| 17 | g.41771671T>C | CA399506641 | JUP | c.184A>G (p.Thr62Ala) n.312A>G c.235A>G (p.Thr79Ala) | |
| 17 | g.41771671T>G | CA399506644 | JUP | c.184A>C (p.Thr62Pro) n.312A>C c.235A>C (p.Thr79Pro) | dbSNP |
| 17 | g.41771671T= | CA2260177246 | JUP | c.184A= (p.Thr62=) n.312A= c.235A= (p.Thr79=) | |
| 17 | g.41771672G>A | CA500025713 | JUP | c.183C>T (p.Tyr61=) n.311C>T c.234C>T (p.Tyr78=) | |
| 17 | g.41771672G>C | CA399506654 | JUP | c.183C>G (p.Tyr61Ter) n.311C>G c.234C>G (p.Tyr78Ter) | |
| 17 | g.41771672G= | CA2260177247 | JUP | c.183C= (p.Tyr61=) n.311C= c.234C= (p.Tyr78=) | |
| 17 | g.41771672G>T | CA399506656 | JUP | c.183C>A (p.Tyr61Ter) n.311C>A c.234C>A (p.Tyr78Ter) | |
| 17 | g.41771673T>A | CA399506666 | JUP | c.182A>T (p.Tyr61Phe) n.310A>T c.233A>T (p.Tyr78Phe) | |
| 17 | g.41771673T>C | CA399506661 | JUP | c.182A>G (p.Tyr61Cys) n.310A>G c.233A>G (p.Tyr78Cys) | |
| 17 | g.41771673T>G | CA399506658 | JUP | c.182A>C (p.Tyr61Ser) n.310A>C c.233A>C (p.Tyr78Ser) | |
| 17 | g.41771673dup | CA2260177248 | JUP | c.182dup (p.Tyr61Ter) n.310dup c.233dup (p.Tyr78Ter) | |
| 17 | g.41771674A>C | CA399506668 | JUP | c.181T>G (p.Tyr61Asp) n.309T>G c.232T>G (p.Tyr78Asp) | |
| 17 | g.41771674A>G | CA399506670 | JUP | c.181T>C (p.Tyr61His) n.309T>C c.232T>C (p.Tyr78His) | |
| 17 | g.41771674A>T | CA399506672 | JUP | c.181T>A (p.Tyr61Asn) n.309T>A c.232T>A (p.Tyr78Asn) | |
| 17 | g.41771675A>C | CA500025725 | JUP | c.180T>G (p.Thr60=) n.308T>G c.231T>G (p.Thr77=) | |
| 17 | g.41771675A>G | CA500025728 | JUP | c.180T>C (p.Thr60=) n.308T>C c.231T>C (p.Thr77=) | |
| 17 | g.41771675A>T | CA500025726 | JUP | c.180T>A (p.Thr60=) n.308T>A c.231T>A (p.Thr77=) | |
| 17 | g.41771676G>A | CA399506674 | JUP | c.179C>T (p.Thr60Ile) n.307C>T c.230C>T (p.Thr77Ile) | |
| 17 | g.41771676G>C | CA399506676 | JUP | c.179C>G (p.Thr60Ser) n.307C>G c.230C>G (p.Thr77Ser) | |
| 17 | g.41771676G>T | CA399506678 | JUP | c.179C>A (p.Thr60Asn) n.307C>A c.230C>A (p.Thr77Asn) | |
| 17 | g.41771677T>A | CA399506680 | JUP | c.178A>T (p.Thr60Ser) n.306A>T c.229A>T (p.Thr77Ser) | |
| 17 | g.41771677T>C | CA399506684 | JUP | c.178A>G (p.Thr60Ala) n.306A>G c.229A>G (p.Thr77Ala) | dbSNP |
| 17 | g.41771677T>G | CA399506682 | JUP | c.178A>C (p.Thr60Pro) n.306A>C c.229A>C (p.Thr77Pro) | |
| 17 | g.41771677T= | CA2260177249 | JUP | c.178A= (p.Thr60=) n.306A= c.229A= (p.Thr77=) | |
| 17 | g.41771678G>A | CA500025739 | JUP | c.177C>T (p.Thr59=) n.305C>T c.228C>T (p.Thr76=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41771678G>C | CA500025740 | JUP | c.177C>G (p.Thr59=) n.305C>G c.228C>G (p.Thr76=) | ClinVar |
| 17 | g.41771678G= | CA2260177250 | JUP | c.177C= (p.Thr59=) n.305C= c.228C= (p.Thr76=) | |
| 17 | g.41771678G>T | CA500025742 | JUP | c.177C>A (p.Thr59=) n.305C>A c.228C>A (p.Thr76=) | |
| 17 | g.41771679G>A | CA399506686 | JUP | c.176C>T (p.Thr59Ile) n.304C>T c.227C>T (p.Thr76Ile) | |
| 17 | g.41771679G>C | CA399506688 | JUP | c.176C>G (p.Thr59Ser) n.304C>G c.227C>G (p.Thr76Ser) | gnomAD v4 |
| 17 | g.41771679G= | CA2260177251 | JUP | c.176C= (p.Thr59=) n.304C= c.227C= (p.Thr76=) | |
| 17 | g.41771679G>T | CA399506689 | JUP | c.176C>A (p.Thr59Asn) n.304C>A c.227C>A (p.Thr76Asn) | dbSNP gnomAD v4 |
| 17 | g.41771680T>A | CA399506691 | JUP | c.175A>T (p.Thr59Ser) n.303A>T c.226A>T (p.Thr76Ser) | |
| 17 | g.41771680T>C | CA399506692 | JUP | c.175A>G (p.Thr59Ala) n.303A>G c.226A>G (p.Thr76Ala) | dbSNP |
| 17 | g.41771680T>G | CA399506694 | JUP | c.175A>C (p.Thr59Pro) n.303A>C c.226A>C (p.Thr76Pro) | |
| 17 | g.41771680T= | CA2260177252 | JUP | c.175A= (p.Thr59=) n.303A= c.226A= (p.Thr76=) | |
| 17 | g.41771681G>A | CA500025748 | JUP | c.174C>T (p.Thr58=) n.302C>T c.225C>T (p.Thr75=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771681G>C | CA500025749 | JUP | c.174C>G (p.Thr58=) n.302C>G c.225C>G (p.Thr75=) | |
| 17 | g.41771681G= | CA2260177253 | JUP | c.174C= (p.Thr58=) n.302C= c.225C= (p.Thr75=) | |
| 17 | g.41771681G>T | CA500025752 | JUP | c.174C>A (p.Thr58=) n.302C>A c.225C>A (p.Thr75=) | |
| 17 | g.41771682G>A | CA399506696 | JUP | c.173C>T (p.Thr58Ile) n.301C>T c.224C>T (p.Thr75Ile) | gnomAD v4 |
| 17 | g.41771682G>C | CA399506698 | JUP | c.173C>G (p.Thr58Ser) n.301C>G c.224C>G (p.Thr75Ser) | |
| 17 | g.41771682G>T | CA399506700 | JUP | c.173C>A (p.Thr58Asn) n.301C>A c.224C>A (p.Thr75Asn) | |
| 17 | g.41771683T>A | CA399506701 | JUP | c.172A>T (p.Thr58Ser) n.300A>T c.223A>T (p.Thr75Ser) | |
| 17 | g.41771683T>C | CA399506702 | JUP | c.172A>G (p.Thr58Ala) n.300A>G c.223A>G (p.Thr75Ala) | |
| 17 | g.41771683T>G | CA399506704 | JUP | c.172A>C (p.Thr58Pro) n.300A>C c.223A>C (p.Thr75Pro) | dbSNP |
| 17 | g.41771683T= | CA2260177254 | JUP | c.172A= (p.Thr58=) n.300A= c.223A= (p.Thr75=) | |
| 17 | g.41771684T>A | CA399506706 | JUP | c.171A>T (p.Lys57Asn) n.299A>T c.222A>T (p.Lys74Asn) | |
| 17 | g.41771684T>C | CA500025759 | JUP | c.171A>G (p.Lys57=) n.299A>G c.222A>G (p.Lys74=) | gnomAD v4 |
| 17 | g.41771684T>G | CA399506708 | JUP | c.171A>C (p.Lys57Asn) n.299A>C c.222A>C (p.Lys74Asn) | |
| 17 | g.41771685T>A | CA399506710 | JUP | c.170A>T (p.Lys57Ile) n.298A>T c.221A>T (p.Lys74Ile) | |
| 17 | g.41771685T>C | CA399506711 | JUP | c.170A>G (p.Lys57Arg) n.298A>G c.221A>G (p.Lys74Arg) | |
| 17 | g.41771685T>G | CA399506712 | JUP | c.170A>C (p.Lys57Thr) n.298A>C c.221A>C (p.Lys74Thr) | |
| 17 | g.41771686T>A | CA399506714 | JUP | c.169A>T (p.Lys57Ter) n.297A>T c.220A>T (p.Lys74Ter) | |
| 17 | g.41771686T>C | CA399506715 | JUP | c.169A>G (p.Lys57Glu) n.297A>G c.220A>G (p.Lys74Glu) | |
| 17 | g.41771686T>G | CA399506716 | JUP | c.169A>C (p.Lys57Gln) n.297A>C c.220A>C (p.Lys74Gln) | |
| 17 | g.41771687C>A | CA399506720 | JUP | c.168G>T (p.Lys56Asn) n.296G>T c.219G>T (p.Lys73Asn) | |
| 17 | g.41771687C>G | CA399506718 | JUP | c.168G>C (p.Lys56Asn) n.296G>C c.219G>C (p.Lys73Asn) | |
| 17 | g.41771687C>T | CA500025769 | JUP | c.168G>A (p.Lys56=) n.296G>A c.219G>A (p.Lys73=) | |
| 17 | g.41771688T>A | CA399506722 | JUP | c.167A>T (p.Lys56Met) n.295A>T c.218A>T (p.Lys73Met) | |
| 17 | g.41771688T>C | CA399506724 | JUP | c.167A>G (p.Lys56Arg) n.295A>G c.218A>G (p.Lys73Arg) | |
| 17 | g.41771688T>G | CA399506725 | JUP | c.167A>C (p.Lys56Thr) n.295A>C c.218A>C (p.Lys73Thr) | |
| 17 | g.41771689T>A | CA399506727 | JUP | c.166A>T (p.Lys56Ter) n.294A>T c.217A>T (p.Lys73Ter) | |
| 17 | g.41771689T>C | CA8565566 | JUP | c.166A>G (p.Lys56Glu) n.294A>G c.217A>G (p.Lys73Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771689T>G | CA399506730 | JUP | c.166A>C (p.Lys56Gln) n.294A>C c.217A>C (p.Lys73Gln) | |
| 17 | g.41771689T= | CA2260177255 | JUP | c.166A= (p.Lys56=) n.294A= c.217A= (p.Lys73=) | |
| 17 | g.41771690G>A | CA500025779 | JUP | c.165C>T (p.Leu55=) n.293C>T c.216C>T (p.Leu72=) | |
| 17 | g.41771690G>C | CA500025776 | JUP | c.165C>G (p.Leu55=) n.293C>G c.216C>G (p.Leu72=) | gnomAD v4 |
| 17 | g.41771690G>T | CA500025777 | JUP | c.165C>A (p.Leu55=) n.293C>A c.216C>A (p.Leu72=) | |
| 17 | g.41771691A>C | CA399506734 | JUP | c.164T>G (p.Leu55Arg) n.292T>G c.215T>G (p.Leu72Arg) | |
| 17 | g.41771691A>G | CA399506732 | JUP | c.164T>C (p.Leu55Pro) n.292T>C c.215T>C (p.Leu72Pro) | |
| 17 | g.41771691A>T | CA399506733 | JUP | c.164T>A (p.Leu55His) n.292T>A c.215T>A (p.Leu72His) | |
| 17 | g.41771692G>A | CA399506737 | JUP | c.163C>T (p.Leu55Phe) n.291C>T c.214C>T (p.Leu72Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771692G>C | CA399506738 | JUP | c.163C>G (p.Leu55Val) n.291C>G c.214C>G (p.Leu72Val) | |
| 17 | g.41771692G= | CA2260177256 | JUP | c.163C= (p.Leu55=) n.291C= c.214C= (p.Leu72=) | |
| 17 | g.41771692G>T | CA399506740 | JUP | c.163C>A (p.Leu55Ile) n.291C>A c.214C>A (p.Leu72Ile) | |
| 17 | g.41771693C>A | CA500025787 | JUP | c.162G>T (p.Thr54=) n.290G>T c.213G>T (p.Thr71=) | ClinVar |
| 17 | g.41771693C= | CA2260177257 | JUP | c.162G= (p.Thr54=) n.290G= c.213G= (p.Thr71=) | |
| 17 | g.41771693C>G | CA8565567 | JUP | c.162G>C (p.Thr54=) n.290G>C c.213G>C (p.Thr71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771693C>T | CA500025788 | JUP | c.162G>A (p.Thr54=) n.290G>A c.213G>A (p.Thr71=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771694G>A | CA8565569 | JUP | c.161C>T (p.Thr54Met) n.289C>T c.212C>T (p.Thr71Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771694G>C | CA399506742 | JUP | c.161C>G (p.Thr54Arg) n.289C>G c.212C>G (p.Thr71Arg) | |
| 17 | g.41771694G= | CA2260177258 | JUP | c.161C= (p.Thr54=) n.289C= c.212C= (p.Thr71=) | |
| 17 | g.41771694G>T | CA8565568 | JUP | c.161C>A (p.Thr54Lys) n.289C>A c.212C>A (p.Thr71Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771695T>A | CA399506744 | JUP | c.160A>T (p.Thr54Ser) n.288A>T c.211A>T (p.Thr71Ser) | |
| 17 | g.41771695T>C | CA8565570 | JUP | c.160A>G (p.Thr54Ala) n.288A>G c.211A>G (p.Thr71Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771695T>G | CA399506747 | JUP | c.160A>C (p.Thr54Pro) n.288A>C c.211A>C (p.Thr71Pro) | |
| 17 | g.41771695T= | CA2260177259 | JUP | c.160A= (p.Thr54=) n.288A= c.211A= (p.Thr71=) | |
| 17 | g.41771697_41771738del | CA645574074 | JUP | c.119_160del (p.Lys40_Tyr53del) n.247_288del c.170_211del (p.Lys57_Tyr70del) | COSMIC |
| 17 | g.41771696G>A | CA8565571 | JUP | c.159C>T (p.Tyr53=) n.287C>T c.210C>T (p.Tyr70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771696G>C | CA399506749 | JUP | c.159C>G (p.Tyr53Ter) n.287C>G c.210C>G (p.Tyr70Ter) | |
| 17 | g.41771696G= | CA2260177260 | JUP | c.159C= (p.Tyr53=) n.287C= c.210C= (p.Tyr70=) | |
| 17 | g.41771696G>T | CA399506751 | JUP | c.159C>A (p.Tyr53Ter) n.287C>A c.210C>A (p.Tyr70Ter) | |
| 17 | g.41771697T>A | CA399506755 | JUP | c.158A>T (p.Tyr53Phe) n.286A>T c.209A>T (p.Tyr70Phe) | |
| 17 | g.41771697T>C | CA399506752 | JUP | c.158A>G (p.Tyr53Cys) n.286A>G c.209A>G (p.Tyr70Cys) | |
| 17 | g.41771697T>G | CA399506754 | JUP | c.158A>C (p.Tyr53Ser) n.286A>C c.209A>C (p.Tyr70Ser) | |
| 17 | g.41771698A>C | CA399506757 | JUP | c.157T>G (p.Tyr53Asp) n.285T>G c.208T>G (p.Tyr70Asp) | |
| 17 | g.41771698A>G | CA399506759 | JUP | c.157T>C (p.Tyr53His) n.285T>C c.208T>C (p.Tyr70His) | |
| 17 | g.41771698A>T | CA399506761 | JUP | c.157T>A (p.Tyr53Asn) n.285T>A c.208T>A (p.Tyr70Asn) | |
| 17 | g.41771699C>A | CA399506763 | JUP | c.156G>T (p.Gln52His) n.284G>T c.207G>T (p.Gln69His) | |
| 17 | g.41771699C= | CA2260177261 | JUP | c.156G= (p.Gln52=) n.284G= c.207G= (p.Gln69=) | |
| 17 | g.41771699C>G | CA399506765 | JUP | c.156G>C (p.Gln52His) n.284G>C c.207G>C (p.Gln69His) | |
| 17 | g.41771699C>T | CA500025807 | JUP | c.156G>A (p.Gln52=) n.284G>A c.207G>A (p.Gln69=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771700T>A | CA399506770 | JUP | c.155A>T (p.Gln52Leu) n.283A>T c.206A>T (p.Gln69Leu) | |
| 17 | g.41771700T>C | CA399506768 | JUP | c.155A>G (p.Gln52Arg) n.283A>G c.206A>G (p.Gln69Arg) | |
| 17 | g.41771700T>G | CA399506767 | JUP | c.155A>C (p.Gln52Pro) n.283A>C c.206A>C (p.Gln69Pro) | |
| 17 | g.41771701G>A | CA399506771 | JUP | c.154C>T (p.Gln52Ter) n.282C>T c.205C>T (p.Gln69Ter) | |
| 17 | g.41771701G>C | CA399506773 | JUP | c.154C>G (p.Gln52Glu) n.282C>G c.205C>G (p.Gln69Glu) | |
| 17 | g.41771701G>T | CA399506775 | JUP | c.154C>A (p.Gln52Lys) n.282C>A c.205C>A (p.Gln69Lys) | ClinVar |
| 17 | g.41771702G>A | CA290701379 | JUP | c.153C>T (p.Arg51=) n.281C>T c.204C>T (p.Arg68=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771702G>C | CA500025814 | JUP | c.153C>G (p.Arg51=) n.281C>G c.204C>G (p.Arg68=) | |
| 17 | g.41771702G= | CA2260177262 | JUP | c.153C= (p.Arg51=) n.281C= c.204C= (p.Arg68=) | |
| 17 | g.41771702G>T | CA500025815 | JUP | c.153C>A (p.Arg51=) n.281C>A c.204C>A (p.Arg68=) | |
| 17 | g.41771703C>A | CA399506777 | JUP | c.152G>T (p.Arg51Leu) n.280G>T c.203G>T (p.Arg68Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771703C= | CA2260177263 | JUP | c.152G= (p.Arg51=) n.280G= c.203G= (p.Arg68=) | |
| 17 | g.41771703C>G | CA399506779 | JUP | c.152G>C (p.Arg51Pro) n.280G>C c.203G>C (p.Arg68Pro) | |
| 17 | g.41771703C>T | CA8565572 | JUP | c.152G>A (p.Arg51His) n.280G>A c.203G>A (p.Arg68His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771704G>A | CA8565573 | JUP | c.151C>T (p.Arg51Cys) n.279C>T c.202C>T (p.Arg68Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41771704G>C | CA399506782 | JUP | c.151C>G (p.Arg51Gly) n.279C>G c.202C>G (p.Arg68Gly) | |
| 17 | g.41771704G= | CA2260177264 | JUP | c.151C= (p.Arg51=) n.279C= c.202C= (p.Arg68=) | |
| 17 | g.41771704G>T | CA399506784 | JUP | c.151C>A (p.Arg51Ser) n.279C>A c.202C>A (p.Arg68Ser) | gnomAD v4 |
| 17 | g.41771705C>A | CA500025823 | JUP | c.150G>T (p.Gly50=) n.278G>T c.201G>T (p.Gly67=) | gnomAD v4 |
| 17 | g.41771705C>G | CA500025824 | JUP | c.150G>C (p.Gly50=) n.278G>C c.201G>C (p.Gly67=) | |
| 17 | g.41771705C>T | CA500025825 | JUP | c.150G>A (p.Gly50=) n.278G>A c.201G>A (p.Gly67=) | |
| 17 | g.41771706C>A | CA399506787 | JUP | c.149G>T (p.Gly50Val) n.277G>T c.200G>T (p.Gly67Val) | |
| 17 | g.41771706C>G | CA399506789 | JUP | c.149G>C (p.Gly50Ala) n.277G>C c.200G>C (p.Gly67Ala) | |
| 17 | g.41771706C>T | CA399506791 | JUP | c.149G>A (p.Gly50Glu) n.277G>A c.200G>A (p.Gly67Glu) | |
| 17 | g.41771707C>A | CA399506792 | JUP | c.148G>T (p.Gly50Trp) n.276G>T c.199G>T (p.Gly67Trp) | |
| 17 | g.41771707C= | CA2260177265 | JUP | c.148G= (p.Gly50=) n.276G= c.199G= (p.Gly67=) | |
| 17 | g.41771707C>G | CA399506794 | JUP | c.148G>C (p.Gly50Arg) n.276G>C c.199G>C (p.Gly67Arg) | |
| 17 | g.41771707C>T | CA8565574 | JUP | c.148G>A (p.Gly50Arg) n.276G>A c.199G>A (p.Gly67Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771708G>A | CA8565575 | JUP | c.147C>T (p.Cys49=) n.275C>T c.198C>T (p.Cys66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771708G>C | CA399506798 | JUP | c.147C>G (p.Cys49Trp) n.275C>G c.198C>G (p.Cys66Trp) | |
| 17 | g.41771708G= | CA2260177266 | JUP | c.147C= (p.Cys49=) n.275C= c.198C= (p.Cys66=) | |
| 17 | g.41771708G>T | CA399506799 | JUP | c.147C>A (p.Cys49Ter) n.275C>A c.198C>A (p.Cys66Ter) | |
| 17 | g.41771709C>A | CA399506801 | JUP | c.146G>T (p.Cys49Phe) n.274G>T c.197G>T (p.Cys66Phe) | |
| 17 | g.41771709C= | CA2260177267 | JUP | c.146G= (p.Cys49=) n.274G= c.197G= (p.Cys66=) | |
| 17 | g.41771709C>G | CA399506803 | JUP | c.146G>C (p.Cys49Ser) n.274G>C c.197G>C (p.Cys66Ser) | |
| 17 | g.41771709C>T | CA8565576 | JUP | c.146G>A (p.Cys49Tyr) n.274G>A c.197G>A (p.Cys66Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771710A= | CA2260177268 | JUP | c.145T= (p.Cys49=) n.273T= c.196T= (p.Cys66=) | |
| 17 | g.41771710A>C | CA399506806 | JUP | c.145T>G (p.Cys49Gly) n.273T>G c.196T>G (p.Cys66Gly) | |
| 17 | g.41771710A>G | CA399506810 | JUP | c.145T>C (p.Cys49Arg) n.273T>C c.196T>C (p.Cys66Arg) | dbSNP |
| 17 | g.41771710A>T | CA399506808 | JUP | c.145T>A (p.Cys49Ser) n.273T>A c.196T>A (p.Cys66Ser) | |
| 17 | g.41771711G>A | CA500025836 | JUP | c.144C>T (p.Ala48=) n.272C>T c.195C>T (p.Ala65=) | gnomAD v4 |
| 17 | g.41771711G>C | CA500025838 | JUP | c.144C>G (p.Ala48=) n.272C>G c.195C>G (p.Ala65=) | |
| 17 | g.41771711G>T | CA500025837 | JUP | c.144C>A (p.Ala48=) n.272C>A c.195C>A (p.Ala65=) | COSMIC |
| 17 | g.41771712G>A | CA399506812 | JUP | c.143C>T (p.Ala48Val) n.271C>T c.194C>T (p.Ala65Val) | |
| 17 | g.41771712G>C | CA399506815 | JUP | c.143C>G (p.Ala48Gly) n.271C>G c.194C>G (p.Ala65Gly) | |
| 17 | g.41771712G>T | CA399506814 | JUP | c.143C>A (p.Ala48Asp) n.271C>A c.194C>A (p.Ala65Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771713C>A | CA399506817 | JUP | c.142G>T (p.Ala48Ser) n.270G>T c.193G>T (p.Ala65Ser) | |
| 17 | g.41771713C>G | CA399506819 | JUP | c.142G>C (p.Ala48Pro) n.270G>C c.193G>C (p.Ala65Pro) | ClinVar |
| 17 | g.41771713C>T | CA399506821 | JUP | c.142G>A (p.Ala48Thr) n.270G>A c.193G>A (p.Ala65Thr) | |
| 17 | g.41771714C>A | CA399506822 | JUP | c.141G>T (p.Glu47Asp) n.269G>T c.192G>T (p.Glu64Asp) | |
| 17 | g.41771714C>G | CA399506823 | JUP | c.141G>C (p.Glu47Asp) n.269G>C c.192G>C (p.Glu64Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771714C>T | CA500025849 | JUP | c.141G>A (p.Glu47=) n.269G>A c.192G>A (p.Glu64=) | |
| 17 | g.41771715T>A | CA399506825 | JUP | c.140A>T (p.Glu47Val) n.268A>T c.191A>T (p.Glu64Val) | |
| 17 | g.41771715T>C | CA399506827 | JUP | c.140A>G (p.Glu47Gly) n.268A>G c.191A>G (p.Glu64Gly) | |
| 17 | g.41771715T>G | CA399506828 | JUP | c.140A>C (p.Glu47Ala) n.268A>C c.191A>C (p.Glu64Ala) | |
| 17 | g.41771716C>A | CA399506830 | JUP | c.139G>T (p.Glu47Ter) n.267G>T c.190G>T (p.Glu64Ter) | |
| 17 | g.41771716C>G | CA399506832 | JUP | c.139G>C (p.Glu47Gln) n.267G>C c.190G>C (p.Glu64Gln) | |
| 17 | g.41771716C>T | CA399506834 | JUP | c.139G>A (p.Glu47Lys) n.267G>A c.190G>A (p.Glu64Lys) | COSMIC |
| 17 | g.41771717A>C | CA399506836 | JUP | c.138T>G (p.Asp46Glu) n.266T>G c.189T>G (p.Asp63Glu) | |
| 17 | g.41771717A>G | CA500025858 | JUP | c.138T>C (p.Asp46=) n.266T>C c.189T>C (p.Asp63=) | |
| 17 | g.41771717A>T | CA399506837 | JUP | c.138T>A (p.Asp46Glu) n.266T>A c.189T>A (p.Asp63Glu) | |
| 17 | g.41771718T>A | CA399506839 | JUP | c.137A>T (p.Asp46Val) n.265A>T c.188A>T (p.Asp63Val) | gnomAD v4 |
| 17 | g.41771718T>C | CA399506842 | JUP | c.137A>G (p.Asp46Gly) n.265A>G c.188A>G (p.Asp63Gly) | |
| 17 | g.41771718T>G | CA399506840 | JUP | c.137A>C (p.Asp46Ala) n.265A>C c.188A>C (p.Asp63Ala) | |
| 17 | g.41771719C>A | CA399506845 | JUP | c.136G>T (p.Asp46Tyr) n.264G>T c.187G>T (p.Asp63Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771719C= | CA2260177269 | JUP | c.136G= (p.Asp46=) n.264G= c.187G= (p.Asp63=) | |
| 17 | g.41771719C>G | CA399506846 | JUP | c.136G>C (p.Asp46His) n.264G>C c.187G>C (p.Asp63His) | |
| 17 | g.41771719C>T | CA8565577 | JUP | c.136G>A (p.Asp46Asn) n.264G>A c.187G>A (p.Asp63Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771720C>A | CA399506848 | JUP | c.135G>T (p.Glu45Asp) n.263G>T c.186G>T (p.Glu62Asp) | |
| 17 | g.41771720C>G | CA399506850 | JUP | c.135G>C (p.Glu45Asp) n.263G>C c.186G>C (p.Glu62Asp) | ClinVar dbSNP |
| 17 | g.41771720C>T | CA500025867 | JUP | c.135G>A (p.Glu45=) n.263G>A c.186G>A (p.Glu62=) | gnomAD v4 |
| 17 | g.41771721T>A | CA399506852 | JUP | c.134A>T (p.Glu45Val) n.262A>T c.185A>T (p.Glu62Val) | |
| 17 | g.41771721T>C | CA399506854 | JUP | c.134A>G (p.Glu45Gly) n.262A>G c.185A>G (p.Glu62Gly) | |
| 17 | g.41771721T>G | CA399506856 | JUP | c.134A>C (p.Glu45Ala) n.262A>C c.185A>C (p.Glu62Ala) | |
| 17 | g.41771722C>A | CA399506858 | JUP | c.133G>T (p.Glu45Ter) n.261G>T c.184G>T (p.Glu62Ter) | |
| 17 | g.41771722C= | CA2260177270 | JUP | c.133G= (p.Glu45=) n.261G= c.184G= (p.Glu62=) | |
| 17 | g.41771722C>G | CA399506859 | JUP | c.133G>C (p.Glu45Gln) n.261G>C c.184G>C (p.Glu62Gln) | |
| 17 | g.41771722C>T | CA399506861 | JUP | c.133G>A (p.Glu45Lys) n.261G>A c.184G>A (p.Glu62Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771723C>A | CA399506863 | JUP | c.132G>T (p.Glu44Asp) n.260G>T c.183G>T (p.Glu61Asp) | |
| 17 | g.41771723C>G | CA399506865 | JUP | c.132G>C (p.Glu44Asp) n.260G>C c.183G>C (p.Glu61Asp) | gnomAD v4 |
| 17 | g.41771723C>T | CA500025875 | JUP | c.132G>A (p.Glu44=) n.260G>A c.183G>A (p.Glu61=) | ClinVar |
| 17 | g.41771724T>A | CA399506868 | JUP | c.131A>T (p.Glu44Val) n.259A>T c.182A>T (p.Glu61Val) | |
| 17 | g.41771724T>C | CA399506869 | JUP | c.131A>G (p.Glu44Gly) n.259A>G c.182A>G (p.Glu61Gly) | |
| 17 | g.41771724T>G | CA399506871 | JUP | c.131A>C (p.Glu44Ala) n.259A>C c.182A>C (p.Glu61Ala) | |
| 17 | g.41771725C>A | CA399506873 | JUP | c.130G>T (p.Glu44Ter) n.258G>T c.181G>T (p.Glu61Ter) | |
| 17 | g.41771725C>G | CA399506875 | JUP | c.130G>C (p.Glu44Gln) n.258G>C c.181G>C (p.Glu61Gln) | |
| 17 | g.41771725C>T | CA399506877 | JUP | c.130G>A (p.Glu44Lys) n.258G>A c.181G>A (p.Glu61Lys) | |
| 17 | g.41771726C>A | CA399506879 | JUP | c.129G>T (p.Met43Ile) n.257G>T c.180G>T (p.Met60Ile) | |
| 17 | g.41771726C= | CA2260177271 | JUP | c.129G= (p.Met43=) n.257G= c.180G= (p.Met60=) | |
| 17 | g.41771726C>G | CA399506881 | JUP | c.129G>C (p.Met43Ile) n.257G>C c.180G>C (p.Met60Ile) | |
| 17 | g.41771726C>T | CA399506883 | JUP | c.129G>A (p.Met43Ile) n.257G>A c.180G>A (p.Met60Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771727A= | CA2260177272 | JUP | c.128T= (p.Met43=) n.256T= c.179T= (p.Met60=) | |
| 17 | g.41771727A>C | CA399506885 | JUP | c.128T>G (p.Met43Arg) n.256T>G c.179T>G (p.Met60Arg) | |
| 17 | g.41771727A>G | CA399506887 | JUP | c.128T>C (p.Met43Thr) n.256T>C c.179T>C (p.Met60Thr) | dbSNP gnomAD v4 |
| 17 | g.41771727A>T | CA399506889 | JUP | c.128T>A (p.Met43Lys) n.256T>A c.179T>A (p.Met60Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771728T>A | CA399506895 | JUP | c.127A>T (p.Met43Leu) n.255A>T c.178A>T (p.Met60Leu) | |
| 17 | g.41771728T>C | CA399506893 | JUP | c.127A>G (p.Met43Val) n.255A>G c.178A>G (p.Met60Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41771728T>G | CA399506891 | JUP | c.127A>C (p.Met43Leu) n.255A>C c.178A>C (p.Met60Leu) | |
| 17 | g.41771728T= | CA2260177273 | JUP | c.127A= (p.Met43=) n.255A= c.178A= (p.Met60=) | |
| 17 | g.41771729G>A | CA500025891 | JUP | c.126C>T (p.Ile42=) n.254C>T c.177C>T (p.Ile59=) | dbSNP |
| 17 | g.41771729G>C | CA399506896 | JUP | c.126C>G (p.Ile42Met) n.254C>G c.177C>G (p.Ile59Met) | |
| 17 | g.41771729G= | CA2260177274 | JUP | c.126C= (p.Ile42=) n.254C= c.177C= (p.Ile59=) | |
| 17 | g.41771729G>T | CA500025894 | JUP | c.126C>A (p.Ile42=) n.254C>A c.177C>A (p.Ile59=) | |
| 17 | g.41771730A= | CA2260177275 | JUP | c.125T= (p.Ile42=) n.253T= c.176T= (p.Ile59=) | |
| 17 | g.41771730A>C | CA399506899 | JUP | c.125T>G (p.Ile42Ser) n.253T>G c.176T>G (p.Ile59Ser) | |
| 17 | g.41771730A>G | CA399506900 | JUP | c.125T>C (p.Ile42Thr) n.253T>C c.176T>C (p.Ile59Thr) | |
| 17 | g.41771730A>T | CA8565578 | JUP | c.125T>A (p.Ile42Asn) n.253T>A c.176T>A (p.Ile59Asn) | dbSNP ExAC gnomAD v2 |
| 17 | g.41771731T>A | CA399506902 | JUP | c.124A>T (p.Ile42Phe) n.252A>T c.175A>T (p.Ile59Phe) | |
| 17 | g.41771731T>C | CA399506904 | JUP | c.124A>G (p.Ile42Val) n.252A>G c.175A>G (p.Ile59Val) | |
| 17 | g.41771731T>G | CA399506906 | JUP | c.124A>C (p.Ile42Leu) n.252A>C c.175A>C (p.Ile59Leu) | |
| 17 | g.41771732G>A | CA500025904 | JUP | c.123C>T (p.Gly41=) n.251C>T c.174C>T (p.Gly58=) | |
| 17 | g.41771732G>C | CA500025905 | JUP | c.123C>G (p.Gly41=) n.251C>G c.174C>G (p.Gly58=) | |
| 17 | g.41771732G>T | CA500025906 | JUP | c.123C>A (p.Gly41=) n.251C>A c.174C>A (p.Gly58=) | |
| 17 | g.41771733C>A | CA399506908 | JUP | c.122G>T (p.Gly41Val) n.250G>T c.173G>T (p.Gly58Val) | |
| 17 | g.41771733C>G | CA399506909 | JUP | c.122G>C (p.Gly41Ala) n.250G>C c.173G>C (p.Gly58Ala) | dbSNP |
| 17 | g.41771733C>T | CA399506911 | JUP | c.122G>A (p.Gly41Asp) n.250G>A c.173G>A (p.Gly58Asp) | ClinVar gnomAD v4 |
| 17 | g.41771734C>A | CA399506912 | JUP | c.121G>T (p.Gly41Cys) n.249G>T c.172G>T (p.Gly58Cys) | gnomAD v4 |
| 17 | g.41771734C>G | CA399506913 | JUP | c.121G>C (p.Gly41Arg) n.249G>C c.172G>C (p.Gly58Arg) | |
| 17 | g.41771734C>T | CA399506914 | JUP | c.121G>A (p.Gly41Ser) n.249G>A c.172G>A (p.Gly58Ser) | ClinVar gnomAD v4 |
| 17 | g.41771735C>A | CA399506916 | JUP | c.120G>T (p.Lys40Asn) n.248G>T c.171G>T (p.Lys57Asn) | |
| 17 | g.41771735C>G | CA399506918 | JUP | c.120G>C (p.Lys40Asn) n.248G>C c.171G>C (p.Lys57Asn) | |
| 17 | g.41771735C>T | CA500025911 | JUP | c.120G>A (p.Lys40=) n.248G>A c.171G>A (p.Lys57=) | |
| 17 | g.41771736T>A | CA399506920 | JUP | c.119A>T (p.Lys40Met) n.247A>T c.170A>T (p.Lys57Met) | |
| 17 | g.41771736T>C | CA399506924 | JUP | c.119A>G (p.Lys40Arg) n.247A>G c.170A>G (p.Lys57Arg) | |
| 17 | g.41771736T>G | CA399506922 | JUP | c.119A>C (p.Lys40Thr) n.247A>C c.170A>C (p.Lys57Thr) | |
| 17 | g.41771736_41771739delinsTTGC | CA2260177276 | JUP | c.116_119delinsGCAA (p.Ser39=) n.244_247delinsGCAA c.167_170delinsGCAA (p.Ser56=) | |
| 17 | g.41771737T>A | CA399506929 | JUP | c.118A>T (p.Lys40Ter) n.246A>T c.169A>T (p.Lys57Ter) | |
| 17 | g.41771737T>C | CA399506931 | JUP | c.118A>G (p.Lys40Glu) n.246A>G c.169A>G (p.Lys57Glu) | |
| 17 | g.41771737T>G | CA399506932 | JUP | c.118A>C (p.Lys40Gln) n.246A>C c.169A>C (p.Lys57Gln) | |
| 17 | g.41771742_41771744dup | CA341294 | JUP | c.116_118dup (p.Ser39_Lys40insSer) n.244_246dup c.167_169dup (p.Ser56_Lys57insSer) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771742_41771744del | CA8565579 | JUP | c.116_118del (p.Ser39del) n.244_246del c.167_169del (p.Ser56del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771738G>A | CA500025921 | JUP | c.117C>T (p.Ser39=) n.245C>T c.168C>T (p.Ser56=) | |
| 17 | g.41771738G>C | CA399506935 | JUP | c.117C>G (p.Ser39Arg) n.245C>G c.168C>G (p.Ser56Arg) | gnomAD v4 |
| 17 | g.41771738G>T | CA399506937 | JUP | c.117C>A (p.Ser39Arg) n.245C>A c.168C>A (p.Ser56Arg) | |
| 17 | g.41771739C>A | CA399506939 | JUP | c.116G>T (p.Ser39Ile) n.244G>T c.167G>T (p.Ser56Ile) | |
| 17 | g.41771739C= | CA2260177277 | JUP | c.116G= (p.Ser39=) n.244G= c.167G= (p.Ser56=) | |
| 17 | g.41771739C>G | CA399506940 | JUP | c.116G>C (p.Ser39Thr) n.244G>C c.167G>C (p.Ser56Thr) | |
| 17 | g.41771739C>T | CA399506942 | JUP | c.116G>A (p.Ser39Asn) n.244G>A c.167G>A (p.Ser56Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771740T>A | CA399506945 | JUP | c.115A>T (p.Ser39Cys) n.243A>T c.166A>T (p.Ser56Cys) | |
| 17 | g.41771740T>C | CA8565580 | JUP | c.115A>G (p.Ser39Gly) n.243A>G c.166A>G (p.Ser56Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771740T>G | CA399506947 | JUP | c.115A>C (p.Ser39Arg) n.243A>C c.166A>C (p.Ser56Arg) | |
| 17 | g.41771740T= | CA2260177278 | JUP | c.115A= (p.Ser39=) n.243A= c.166A= (p.Ser56=) | |
| 17 | g.41771740_41771741delinsTG | CA2260177279 | JUP | c.114_115delinsCA (p.Ser38=) n.242_243delinsCA c.165_166delinsCA (p.Ser55=) | |
| 17 | g.41771741del | CA2260177280 | JUP | c.114del (p.Ser38ArgfsTer?) n.242del c.165del (p.Ser55ArgfsTer?) | dbSNP |
| 17 | g.41771741G>A | CA500025929 | JUP | c.114C>T (p.Ser38=) n.242C>T c.165C>T (p.Ser55=) | dbSNP |
| 17 | g.41771741G>C | CA399506949 | JUP | c.114C>G (p.Ser38Arg) n.242C>G c.165C>G (p.Ser55Arg) | |
| 17 | g.41771741G= | CA2260177281 | JUP | c.114C= (p.Ser38=) n.242C= c.165C= (p.Ser55=) | |
| 17 | g.41771741G>T | CA8565581 | JUP | c.114C>A (p.Ser38Arg) n.242C>A c.165C>A (p.Ser55Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771742C>A | CA399506951 | JUP | c.113G>T (p.Ser38Ile) n.241G>T c.164G>T (p.Ser55Ile) | |
| 17 | g.41771742C>G | CA399506953 | JUP | c.113G>C (p.Ser38Thr) n.241G>C c.164G>C (p.Ser55Thr) | |
| 17 | g.41771742C>T | CA399506955 | JUP | c.113G>A (p.Ser38Asn) n.241G>A c.164G>A (p.Ser55Asn) | COSMIC |
| 17 | g.41771743T>A | CA399506956 | JUP | c.112A>T (p.Ser38Cys) n.240A>T c.163A>T (p.Ser55Cys) | |
| 17 | g.41771743T>C | CA399506957 | JUP | c.112A>G (p.Ser38Gly) n.240A>G c.163A>G (p.Ser55Gly) | |
| 17 | g.41771743T>G | CA399506959 | JUP | c.112A>C (p.Ser38Arg) n.240A>C c.163A>C (p.Ser55Arg) | |
| 17 | g.41771744G>A | CA500025935 | JUP | c.111C>T (p.Val37=) n.239C>T c.162C>T (p.Val54=) | ClinVar dbSNP |
| 17 | g.41771744G>C | CA500025938 | JUP | c.111C>G (p.Val37=) n.239C>G c.162C>G (p.Val54=) | |
| 17 | g.41771744G>T | CA500025940 | JUP | c.111C>A (p.Val37=) n.239C>A c.162C>A (p.Val54=) | |
| 17 | g.41771745A>C | CA399506965 | JUP | c.110T>G (p.Val37Gly) n.238T>G c.161T>G (p.Val54Gly) | |
| 17 | g.41771745A>G | CA399506962 | JUP | c.110T>C (p.Val37Ala) n.238T>C c.161T>C (p.Val54Ala) | |
| 17 | g.41771745A>T | CA399506963 | JUP | c.110T>A (p.Val37Asp) n.238T>A c.161T>A (p.Val54Asp) | gnomAD v4 |
| 17 | g.41771746C>A | CA399506967 | JUP | c.109G>T (p.Val37Phe) n.237G>T c.160G>T (p.Val54Phe) | |
| 17 | g.41771746C= | CA2260177282 | JUP | c.109G= (p.Val37=) n.237G= c.160G= (p.Val54=) | |
| 17 | g.41771746C>G | CA399506969 | JUP | c.109G>C (p.Val37Leu) n.237G>C c.160G>C (p.Val54Leu) | |
| 17 | g.41771746C>T | CA8565582 | JUP | c.109G>A (p.Val37Ile) n.237G>A c.160G>A (p.Val54Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771746_41771749delinsCGGA | CA2260177283 | JUP | c.106_109delinsTCCG (p.Ser36=) n.234_237delinsTCCG c.157_160delinsTCCG (p.Ser53=) | |
| 17 | g.41771747G>A | CA8565583 | JUP | c.108C>T (p.Ser36=) n.236C>T c.159C>T (p.Ser53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771747G>C | CA500025947 | JUP | c.108C>G (p.Ser36=) n.236C>G c.159C>G (p.Ser53=) | |
| 17 | g.41771747G= | CA2260177285 | JUP | c.108C= (p.Ser36=) n.236C= c.159C= (p.Ser53=) | |
| 17 | g.41771747G>T | CA399506972 | JUP | c.108C>A (p.Ser36=) n.236C>A c.159C>A (p.Ser53=) | dbSNP |
| 17 | g.41771749_41771751del | CA2260177284 | JUP | c.106_108del (p.Ser36del) n.234_236del c.157_159del (p.Ser53del) | dbSNP |
| 17 | g.41771748G>A | CA399506974 | JUP | c.107C>T (p.Ser36Phe) n.235C>T c.158C>T (p.Ser53Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41771748G>C | CA399506977 | JUP | c.107C>G (p.Ser36Cys) n.235C>G c.158C>G (p.Ser53Cys) | |
| 17 | g.41771748G= | CA2260177286 | JUP | c.107C= (p.Ser36=) n.235C= c.158C= (p.Ser53=) | |
| 17 | g.41771748G>T | CA399506976 | JUP | c.107C>A (p.Ser36Tyr) n.235C>A c.158C>A (p.Ser53Tyr) | |
| 17 | g.41771749A>C | CA399506979 | JUP | c.106T>G (p.Ser36Ala) n.234T>G c.157T>G (p.Ser53Ala) | |
| 17 | g.41771749A>G | CA399506981 | JUP | c.106T>C (p.Ser36Pro) n.234T>C c.157T>C (p.Ser53Pro) | |
| 17 | g.41771749A>T | CA399506983 | JUP | c.106T>A (p.Ser36Thr) n.234T>A c.157T>A (p.Ser53Thr) | |
| 17 | g.41771750G>A | CA500025954 | JUP | c.105C>T (p.Pro35=) n.233C>T c.156C>T (p.Pro52=) | |
| 17 | g.41771750G>C | CA500025959 | JUP | c.105C>G (p.Pro35=) n.233C>G c.156C>G (p.Pro52=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41771750G= | CA2260177287 | JUP | c.105C= (p.Pro35=) n.233C= c.156C= (p.Pro52=) | |
| 17 | g.41771750G>T | CA500025956 | JUP | c.105C>A (p.Pro35=) n.233C>A c.156C>A (p.Pro52=) | |
| 17 | g.41771751G>A | CA399506985 | JUP | c.104C>T (p.Pro35Leu) n.232C>T c.155C>T (p.Pro52Leu) | COSMIC |
| 17 | g.41771751G>C | CA399506987 | JUP | c.104C>G (p.Pro35Arg) n.232C>G c.155C>G (p.Pro52Arg) | |
| 17 | g.41771751G>T | CA399506988 | JUP | c.104C>A (p.Pro35His) n.232C>A c.155C>A (p.Pro52His) | |
| 17 | g.41771752G>A | CA399506990 | JUP | c.103C>T (p.Pro35Ser) n.231C>T c.154C>T (p.Pro52Ser) | |
| 17 | g.41771752G>C | CA399506992 | JUP | c.103C>G (p.Pro35Ala) n.231C>G c.154C>G (p.Pro52Ala) | |
| 17 | g.41771752G= | CA2260177288 | JUP | c.103C= (p.Pro35=) n.231C= c.154C= (p.Pro52=) | |
| 17 | g.41771752G>T | CA8565584 | JUP | c.103C>A (p.Pro35Thr) n.231C>A c.154C>A (p.Pro52Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771753C>A | CA500025968 | JUP | c.102G>T (p.Val34=) n.230G>T c.153G>T (p.Val51=) | |
| 17 | g.41771753C>G | CA500025965 | JUP | c.102G>C (p.Val34=) n.230G>C c.153G>C (p.Val51=) | |
| 17 | g.41771753C>T | CA500025967 | JUP | c.102G>A (p.Val34=) n.230G>A c.153G>A (p.Val51=) | |
| 17 | g.41771754A>C | CA399506994 | JUP | c.101T>G (p.Val34Gly) n.229T>G c.152T>G (p.Val51Gly) | |
| 17 | g.41771754A>G | CA399506996 | JUP | c.101T>C (p.Val34Ala) n.229T>C c.152T>C (p.Val51Ala) | |
| 17 | g.41771754A>T | CA399506998 | JUP | c.101T>A (p.Val34Glu) n.229T>A c.152T>A (p.Val51Glu) | |
| 17 | g.41771755C>A | CA399507001 | JUP | c.100G>T (p.Val34Leu) n.228G>T c.151G>T (p.Val51Leu) | gnomAD v4 |
| 17 | g.41771755C= | CA2260177289 | JUP | c.100G= (p.Val34=) n.228G= c.151G= (p.Val51=) | |
| 17 | g.41771755C>G | CA399507003 | JUP | c.100G>C (p.Val34Leu) n.228G>C c.151G>C (p.Val51Leu) | |
| 17 | g.41771755C>T | CA308441 | JUP | c.100G>A (p.Val34Met) n.228G>A c.151G>A (p.Val51Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771755_41771756insCT | CA2515309945 | JUP | c.99_100insAG (p.Val34ArgfsTer?) n.227_228insAG c.150_151insAG (p.Val51ArgfsTer?) | |
| 17 | g.41771756G>A | CA8565585 | JUP | c.99C>T (p.Cys33=) n.227C>T c.150C>T (p.Cys50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41771756G>C | CA399507005 | JUP | c.99C>G (p.Cys33Trp) n.227C>G c.150C>G (p.Cys50Trp) | |
| 17 | g.41771756G= | CA2260177290 | JUP | c.99C= (p.Cys33=) n.227C= c.150C= (p.Cys50=) | |
| 17 | g.41771756G>T | CA399507007 | JUP | c.99C>A (p.Cys33Ter) n.227C>A c.150C>A (p.Cys50Ter) |