Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108929199_108929380del | CA2586969751 | EDAR,RANBP2 | c.175_356del c.226_407del c.319_500del c.8370+156153_8370+156334del (n.8370+156153_8370+156334del) | |
2 | g.108929200A= | CA1278368508 | EDAR,RANBP2 | c.354T= (p.Pro118=) c.405T= (p.Pro135=) c.498T= (p.Pro166=) c.8370+156154A= (n.8370+156154A=) | |
2 | g.108929200A>C | CA428086792 | EDAR,RANBP2 | c.354T>G (p.Pro118=) c.405T>G (p.Pro135=) c.498T>G (p.Pro166=) c.8370+156154A>C (n.8370+156154A>C) | |
2 | g.108929200A>G | CA428086794 | EDAR,RANBP2 | c.354T>C (p.Pro118=) c.405T>C (p.Pro135=) c.498T>C (p.Pro166=) c.8370+156154A>G (n.8370+156154A>G) | |
2 | g.108929200A>T | CA428086795 | EDAR,RANBP2 | c.354T>A (p.Pro118=) c.405T>A (p.Pro135=) c.498T>A (p.Pro166=) c.8370+156154A>T (n.8370+156154A>T) | dbSNP |
2 | g.108929201G>A | CA348115540 | EDAR,RANBP2 | c.353C>T (p.Pro118Leu) c.404C>T (p.Pro135Leu) c.497C>T (p.Pro166Leu) c.8370+156155G>A (n.8370+156155G>A) | |
2 | g.108929201G>C | CA348115541 | EDAR,RANBP2 | c.353C>G (p.Pro118Arg) c.404C>G (p.Pro135Arg) c.497C>G (p.Pro166Arg) c.8370+156155G>C (n.8370+156155G>C) | |
2 | g.108929201G>T | CA348115542 | EDAR,RANBP2 | c.353C>A (p.Pro118His) c.404C>A (p.Pro135His) c.497C>A (p.Pro166His) c.8370+156155G>T (n.8370+156155G>T) | |
2 | g.108929202G>A | CA348115543 | EDAR,RANBP2 | c.352C>T (p.Pro118Ser) c.403C>T (p.Pro135Ser) c.496C>T (p.Pro166Ser) c.8370+156156G>A (n.8370+156156G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929202G>C | CA1825121 | EDAR,RANBP2 | c.352C>G (p.Pro118Ala) c.403C>G (p.Pro135Ala) c.496C>G (p.Pro166Ala) c.8370+156156G>C (n.8370+156156G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929202G= | CA1278368509 | EDAR,RANBP2 | c.352C= (p.Pro118=) c.403C= (p.Pro135=) c.496C= (p.Pro166=) c.8370+156156G= (n.8370+156156G=) | |
2 | g.108929202G>T | CA348115544 | EDAR,RANBP2 | c.352C>A (p.Pro118Thr) c.403C>A (p.Pro135Thr) c.496C>A (p.Pro166Thr) c.8370+156156G>T (n.8370+156156G>T) | |
2 | g.108929203G>A | CA428086797 | EDAR,RANBP2 | c.351C>T (p.Leu117=) c.402C>T (p.Leu134=) c.495C>T (p.Leu165=) c.8370+156157G>A (n.8370+156157G>A) | |
2 | g.108929203G>C | CA428086798 | EDAR,RANBP2 | c.351C>G (p.Leu117=) c.402C>G (p.Leu134=) c.495C>G (p.Leu165=) c.8370+156157G>C (n.8370+156157G>C) | |
2 | g.108929203G>T | CA428086799 | EDAR,RANBP2 | c.351C>A (p.Leu117=) c.402C>A (p.Leu134=) c.495C>A (p.Leu165=) c.8370+156157G>T (n.8370+156157G>T) | |
2 | g.108929204A>C | CA348115545 | EDAR,RANBP2 | c.350T>G (p.Leu117Arg) c.401T>G (p.Leu134Arg) c.494T>G (p.Leu165Arg) c.8370+156158A>C (n.8370+156158A>C) | |
2 | g.108929204A>G | CA348115546 | EDAR,RANBP2 | c.350T>C (p.Leu117Pro) c.401T>C (p.Leu134Pro) c.494T>C (p.Leu165Pro) c.8370+156158A>G (n.8370+156158A>G) | |
2 | g.108929204A>T | CA348115547 | EDAR,RANBP2 | c.350T>A (p.Leu117His) c.401T>A (p.Leu134His) c.494T>A (p.Leu165His) c.8370+156158A>T (n.8370+156158A>T) | |
2 | g.108929205G>A | CA348115550 | EDAR,RANBP2 | c.349C>T (p.Leu117Phe) c.400C>T (p.Leu134Phe) c.493C>T (p.Leu165Phe) c.8370+156159G>A (n.8370+156159G>A) | |
2 | g.108929205G>C | CA348115549 | EDAR,RANBP2 | c.349C>G (p.Leu117Val) c.400C>G (p.Leu134Val) c.493C>G (p.Leu165Val) c.8370+156159G>C (n.8370+156159G>C) | |
2 | g.108929205G>T | CA348115548 | EDAR,RANBP2 | c.349C>A (p.Leu117Ile) c.400C>A (p.Leu134Ile) c.493C>A (p.Leu165Ile) c.8370+156159G>T (n.8370+156159G>T) | |
2 | g.108929206G>A | CA428086802 | EDAR,RANBP2 | c.348C>T (p.Cys116=) c.399C>T (p.Cys133=) c.492C>T (p.Cys164=) c.8370+156160G>A (n.8370+156160G>A) | |
2 | g.108929206G>C | CA348115551 | EDAR,RANBP2 | c.348C>G (p.Cys116Trp) c.399C>G (p.Cys133Trp) c.492C>G (p.Cys164Trp) c.8370+156160G>C (n.8370+156160G>C) | |
2 | g.108929206G= | CA1278368510 | EDAR,RANBP2 | c.348C= (p.Cys116=) c.399C= (p.Cys133=) c.492C= (p.Cys164=) c.8370+156160G= (n.8370+156160G=) | |
2 | g.108929206G>T | CA348115552 | EDAR,RANBP2 | c.348C>A (p.Cys116Ter) c.399C>A (p.Cys133Ter) c.492C>A (p.Cys164Ter) c.8370+156160G>T (n.8370+156160G>T) | dbSNP gnomAD v4 |
2 | g.108929207C>A | CA348115553 | EDAR,RANBP2 | c.347G>T (p.Cys116Phe) c.398G>T (p.Cys133Phe) c.491G>T (p.Cys164Phe) c.8370+156161C>A (n.8370+156161C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929207C= | CA1278368511 | EDAR,RANBP2 | c.347G= (p.Cys116=) c.398G= (p.Cys133=) c.491G= (p.Cys164=) c.8370+156161C= (n.8370+156161C=) | |
2 | g.108929207C>G | CA348115554 | EDAR,RANBP2 | c.347G>C (p.Cys116Ser) c.398G>C (p.Cys133Ser) c.491G>C (p.Cys164Ser) c.8370+156161C>G (n.8370+156161C>G) | gnomAD v4 |
2 | g.108929207C>T | CA348115555 | EDAR,RANBP2 | c.347G>A (p.Cys116Tyr) c.398G>A (p.Cys133Tyr) c.491G>A (p.Cys164Tyr) c.8370+156161C>T (n.8370+156161C>T) | COSMIC COSMIC |
2 | g.108929208A= | CA1278368512 | EDAR,RANBP2 | c.346T= (p.Cys116=) c.397T= (p.Cys133=) c.490T= (p.Cys164=) c.8370+156162A= (n.8370+156162A=) | |
2 | g.108929208A>C | CA348115556 | EDAR,RANBP2 | c.346T>G (p.Cys116Gly) c.397T>G (p.Cys133Gly) c.490T>G (p.Cys164Gly) c.8370+156162A>C (n.8370+156162A>C) | |
2 | g.108929208A>G | CA54012141 | EDAR,RANBP2 | c.346T>C (p.Cys116Arg) c.397T>C (p.Cys133Arg) c.490T>C (p.Cys164Arg) c.8370+156162A>G (n.8370+156162A>G) | dbSNP gnomAD v4 |
2 | g.108929208A>T | CA348115557 | EDAR,RANBP2 | c.346T>A (p.Cys116Ser) c.397T>A (p.Cys133Ser) c.490T>A (p.Cys164Ser) c.8370+156162A>T (n.8370+156162A>T) | |
2 | g.108929209A>C | CA428086803 | EDAR,RANBP2 | c.345T>G (p.Pro115=) c.396T>G (p.Pro132=) c.489T>G (p.Pro163=) c.8370+156163A>C (n.8370+156163A>C) | |
2 | g.108929209A>G | CA428086804 | EDAR,RANBP2 | c.345T>C (p.Pro115=) c.396T>C (p.Pro132=) c.489T>C (p.Pro163=) c.8370+156163A>G (n.8370+156163A>G) | |
2 | g.108929209A>T | CA428086805 | EDAR,RANBP2 | c.345T>A (p.Pro115=) c.396T>A (p.Pro132=) c.489T>A (p.Pro163=) c.8370+156163A>T (n.8370+156163A>T) | |
2 | g.108929209_108929210delinsAG | CA1278368513 | EDAR,RANBP2 | c.344_345delinsCT (p.Pro115=) c.395_396delinsCT (p.Pro132=) c.488_489delinsCT (p.Pro163=) c.8370+156163_8370+156164delinsAG (n.8370+156163_8370+156164delinsAG) | |
2 | g.108929210G>A | CA1825123 | EDAR,RANBP2 | c.344C>T (p.Pro115Leu) c.395C>T (p.Pro132Leu) c.488C>T (p.Pro163Leu) c.8370+156164G>A (n.8370+156164G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929210G>C | CA348115558 | EDAR,RANBP2 | c.344C>G (p.Pro115Arg) c.395C>G (p.Pro132Arg) c.488C>G (p.Pro163Arg) c.8370+156164G>C (n.8370+156164G>C) | |
2 | g.108929210G= | CA1278368514 | EDAR,RANBP2 | c.344C= (p.Pro115=) c.395C= (p.Pro132=) c.488C= (p.Pro163=) c.8370+156164G= (n.8370+156164G=) | |
2 | g.108929210G>T | CA348115559 | EDAR,RANBP2 | c.344C>A (p.Pro115His) c.395C>A (p.Pro132His) c.488C>A (p.Pro163His) c.8370+156164G>T (n.8370+156164G>T) | |
2 | g.108929212del | CA1825122 | EDAR,RANBP2 | c.344del (p.Pro115LeufsTer?) c.395del (p.Pro132LeufsTer?) c.488del (p.Pro163LeufsTer?) c.8370+156166del (n.8370+156166del) | dbSNP ExAC |
2 | g.108929211G>A | CA348115560 | EDAR,RANBP2 | c.343C>T (p.Pro115Ser) c.394C>T (p.Pro132Ser) c.487C>T (p.Pro163Ser) c.8370+156165G>A (n.8370+156165G>A) | dbSNP gnomAD v4 |
2 | g.108929211G>C | CA1825124 | EDAR,RANBP2 | c.343C>G (p.Pro115Ala) c.394C>G (p.Pro132Ala) c.487C>G (p.Pro163Ala) c.8370+156165G>C (n.8370+156165G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929211G= | CA1278368515 | EDAR,RANBP2 | c.343C= (p.Pro115=) c.394C= (p.Pro132=) c.487C= (p.Pro163=) c.8370+156165G= (n.8370+156165G=) | |
2 | g.108929211G>T | CA348115561 | EDAR,RANBP2 | c.343C>A (p.Pro115Thr) c.394C>A (p.Pro132Thr) c.487C>A (p.Pro163Thr) c.8370+156165G>T (n.8370+156165G>T) | |
2 | g.108929212G>A | CA54012142 | EDAR,RANBP2 | c.342C>T (p.Gly114=) c.393C>T (p.Gly131=) c.486C>T (p.Gly162=) c.8370+156166G>A (n.8370+156166G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929212G>C | CA428086806 | EDAR,RANBP2 | c.342C>G (p.Gly114=) c.393C>G (p.Gly131=) c.486C>G (p.Gly162=) c.8370+156166G>C (n.8370+156166G>C) | |
2 | g.108929212G= | CA1278368516 | EDAR,RANBP2 | c.342C= (p.Gly114=) c.393C= (p.Gly131=) c.486C= (p.Gly162=) c.8370+156166G= (n.8370+156166G=) | |
2 | g.108929212G>T | CA428086807 | EDAR,RANBP2 | c.342C>A (p.Gly114=) c.393C>A (p.Gly131=) c.486C>A (p.Gly162=) c.8370+156166G>T (n.8370+156166G>T) |