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.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.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) | |
2 | g.108929213C>A | CA348115564 | EDAR,RANBP2 | c.341G>T (p.Gly114Val) c.392G>T (p.Gly131Val) c.485G>T (p.Gly162Val) c.8370+156167C>A (n.8370+156167C>A) | |
2 | g.108929213C>G | CA348115562 | EDAR,RANBP2 | c.341G>C (p.Gly114Ala) c.392G>C (p.Gly131Ala) c.485G>C (p.Gly162Ala) c.8370+156167C>G (n.8370+156167C>G) | |
2 | g.108929213C>T | CA348115563 | EDAR,RANBP2 | c.341G>A (p.Gly114Asp) c.392G>A (p.Gly131Asp) c.485G>A (p.Gly162Asp) c.8370+156167C>T (n.8370+156167C>T) | |
2 | g.108929214C>A | CA348115565 | EDAR,RANBP2 | c.340G>T (p.Gly114Cys) c.391G>T (p.Gly131Cys) c.484G>T (p.Gly162Cys) c.8370+156168C>A (n.8370+156168C>A) | |
2 | g.108929214C>G | CA348115566 | EDAR,RANBP2 | c.340G>C (p.Gly114Arg) c.391G>C (p.Gly131Arg) c.484G>C (p.Gly162Arg) c.8370+156168C>G (n.8370+156168C>G) | |
2 | g.108929214C>T | CA348115567 | EDAR,RANBP2 | c.340G>A (p.Gly114Ser) c.391G>A (p.Gly131Ser) c.484G>A (p.Gly162Ser) c.8370+156168C>T (n.8370+156168C>T) | |
2 | g.108929215A>C | CA348115568 | EDAR,RANBP2 | c.339T>G (p.Cys113Trp) c.390T>G (p.Cys130Trp) c.483T>G (p.Cys161Trp) c.8370+156169A>C (n.8370+156169A>C) | |
2 | g.108929215A>G | CA428086808 | EDAR,RANBP2 | c.339T>C (p.Cys113=) c.390T>C (p.Cys130=) c.483T>C (p.Cys161=) c.8370+156169A>G (n.8370+156169A>G) | |
2 | g.108929215A>T | CA348115569 | EDAR,RANBP2 | c.339T>A (p.Cys113Ter) c.390T>A (p.Cys130Ter) c.483T>A (p.Cys161Ter) c.8370+156169A>T (n.8370+156169A>T) | |
2 | g.108929216C>A | CA348115570 | EDAR,RANBP2 | c.338G>T (p.Cys113Phe) c.389G>T (p.Cys130Phe) c.482G>T (p.Cys161Phe) c.8370+156170C>A (n.8370+156170C>A) | |
2 | g.108929216C= | CA1278368517 | EDAR,RANBP2 | c.338G= (p.Cys113=) c.389G= (p.Cys130=) c.482G= (p.Cys161=) c.8370+156170C= (n.8370+156170C=) | |
2 | g.108929216C>G | CA348115571 | EDAR,RANBP2 | c.338G>C (p.Cys113Ser) c.389G>C (p.Cys130Ser) c.482G>C (p.Cys161Ser) c.8370+156170C>G (n.8370+156170C>G) | |
2 | g.108929216C>T | CA348115572 | EDAR,RANBP2 | c.338G>A (p.Cys113Tyr) c.389G>A (p.Cys130Tyr) c.482G>A (p.Cys161Tyr) c.8370+156170C>T (n.8370+156170C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929217A>C | CA348115573 | EDAR,RANBP2 | c.337T>G (p.Cys113Gly) c.388T>G (p.Cys130Gly) c.481T>G (p.Cys161Gly) c.8370+156171A>C (n.8370+156171A>C) | |
2 | g.108929217A>G | CA348115574 | EDAR,RANBP2 | c.337T>C (p.Cys113Arg) c.388T>C (p.Cys130Arg) c.481T>C (p.Cys161Arg) c.8370+156171A>G (n.8370+156171A>G) | |
2 | g.108929217A>T | CA348115575 | EDAR,RANBP2 | c.337T>A (p.Cys113Ser) c.388T>A (p.Cys130Ser) c.481T>A (p.Cys161Ser) c.8370+156171A>T (n.8370+156171A>T) | |
2 | g.108929218C>A | CA348115576 | EDAR,RANBP2 | c.336G>T (p.Glu112Asp) c.387G>T (p.Glu129Asp) c.480G>T (p.Glu160Asp) c.8370+156172C>A (n.8370+156172C>A) | gnomAD v4 |
2 | g.108929218C>G | CA348115577 | EDAR,RANBP2 | c.336G>C (p.Glu112Asp) c.387G>C (p.Glu129Asp) c.480G>C (p.Glu160Asp) c.8370+156172C>G (n.8370+156172C>G) | |
2 | g.108929218C>T | CA428086809 | EDAR,RANBP2 | c.336G>A (p.Glu112=) c.387G>A (p.Glu129=) c.480G>A (p.Glu160=) c.8370+156172C>T (n.8370+156172C>T) | |
2 | g.108929219T>A | CA348115580 | EDAR,RANBP2 | c.335A>T (p.Glu112Val) c.386A>T (p.Glu129Val) c.479A>T (p.Glu160Val) c.8370+156173T>A (n.8370+156173T>A) | |
2 | g.108929219T>C | CA348115578 | EDAR,RANBP2 | c.335A>G (p.Glu112Gly) c.386A>G (p.Glu129Gly) c.479A>G (p.Glu160Gly) c.8370+156173T>C (n.8370+156173T>C) | |
2 | g.108929219T>G | CA348115579 | EDAR,RANBP2 | c.335A>C (p.Glu112Ala) c.386A>C (p.Glu129Ala) c.479A>C (p.Glu160Ala) c.8370+156173T>G (n.8370+156173T>G) | dbSNP |
2 | g.108929219T= | CA1278368518 | EDAR,RANBP2 | c.335A= (p.Glu112=) c.386A= (p.Glu129=) c.479A= (p.Glu160=) c.8370+156173T= (n.8370+156173T=) | |
2 | g.108929220C>A | CA348115581 | EDAR,RANBP2 | c.334G>T (p.Glu112Ter) c.385G>T (p.Glu129Ter) c.478G>T (p.Glu160Ter) c.8370+156174C>A (n.8370+156174C>A) | dbSNP gnomAD v2 |
2 | g.108929220C= | CA1278368519 | EDAR,RANBP2 | c.334G= (p.Glu112=) c.385G= (p.Glu129=) c.478G= (p.Glu160=) c.8370+156174C= (n.8370+156174C=) | |
2 | g.108929220C>G | CA348115582 | EDAR,RANBP2 | c.334G>C (p.Glu112Gln) c.385G>C (p.Glu129Gln) c.478G>C (p.Glu160Gln) c.8370+156174C>G (n.8370+156174C>G) | |
2 | g.108929220C>T | CA348115583 | EDAR,RANBP2 | c.334G>A (p.Glu112Lys) c.385G>A (p.Glu129Lys) c.478G>A (p.Glu160Lys) c.8370+156174C>T (n.8370+156174C>T) | |
2 | g.108929221A= | CA1278368520 | EDAR,RANBP2 | c.333T= (p.Ala111=) c.384T= (p.Ala128=) c.477T= (p.Ala159=) c.8370+156175A= (n.8370+156175A=) | |
2 | g.108929221A>C | CA428086810 | EDAR,RANBP2 | c.333T>G (p.Ala111=) c.384T>G (p.Ala128=) c.477T>G (p.Ala159=) c.8370+156175A>C (n.8370+156175A>C) | |
2 | g.108929221A>G | CA1825125 | EDAR,RANBP2 | c.333T>C (p.Ala111=) c.384T>C (p.Ala128=) c.477T>C (p.Ala159=) c.8370+156175A>G (n.8370+156175A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929221A>T | CA428086811 | EDAR,RANBP2 | c.333T>A (p.Ala111=) c.384T>A (p.Ala128=) c.477T>A (p.Ala159=) c.8370+156175A>T (n.8370+156175A>T) | |
2 | g.108929222G>A | CA348115584 | EDAR,RANBP2 | c.332C>T (p.Ala111Val) c.383C>T (p.Ala128Val) c.476C>T (p.Ala159Val) c.8370+156176G>A (n.8370+156176G>A) | |
2 | g.108929222G>C | CA348115585 | EDAR,RANBP2 | c.332C>G (p.Ala111Gly) c.383C>G (p.Ala128Gly) c.476C>G (p.Ala159Gly) c.8370+156176G>C (n.8370+156176G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929222G= | CA1278368521 | EDAR,RANBP2 | c.332C= (p.Ala111=) c.383C= (p.Ala128=) c.476C= (p.Ala159=) c.8370+156176G= (n.8370+156176G=) | |
2 | g.108929222G>T | CA348115586 | EDAR,RANBP2 | c.332C>A (p.Ala111Asp) c.383C>A (p.Ala128Asp) c.476C>A (p.Ala159Asp) c.8370+156176G>T (n.8370+156176G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929223_108929224dup | CA2660611275 | EDAR,RANBP2 | c.331_332dup (p.Glu112LeufsTer?) c.382_383dup (p.Glu129LeufsTer?) c.475_476dup (p.Glu160LeufsTer?) c.8370+156177_8370+156178dup (n.8370+156177_8370+156178dup) | gnomAD v4 |
2 | g.108929223C>A | CA1825126 | EDAR,RANBP2 | c.331G>T (p.Ala111Ser) c.382G>T (p.Ala128Ser) c.475G>T (p.Ala159Ser) c.8370+156177C>A (n.8370+156177C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929223C= | CA1278368522 | EDAR,RANBP2 | c.331G= (p.Ala111=) c.382G= (p.Ala128=) c.475G= (p.Ala159=) c.8370+156177C= (n.8370+156177C=) | |
2 | g.108929223C>G | CA348115587 | EDAR,RANBP2 | c.331G>C (p.Ala111Pro) c.382G>C (p.Ala128Pro) c.475G>C (p.Ala159Pro) c.8370+156177C>G (n.8370+156177C>G) | |
2 | g.108929223C>T | CA348115588 | EDAR,RANBP2 | c.331G>A (p.Ala111Thr) c.382G>A (p.Ala128Thr) c.475G>A (p.Ala159Thr) c.8370+156177C>T (n.8370+156177C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929224G>A | CA1825127 | EDAR,RANBP2 | c.330C>T (p.Asp110=) c.381C>T (p.Asp127=) c.474C>T (p.Asp158=) c.8370+156178G>A (n.8370+156178G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929224G>C | CA348115589 | EDAR,RANBP2 | c.330C>G (p.Asp110Glu) c.381C>G (p.Asp127Glu) c.474C>G (p.Asp158Glu) c.8370+156178G>C (n.8370+156178G>C) | |
2 | g.108929224G= | CA1278368523 | EDAR,RANBP2 | c.330C= (p.Asp110=) c.381C= (p.Asp127=) c.474C= (p.Asp158=) c.8370+156178G= (n.8370+156178G=) | |
2 | g.108929224G>T | CA348115590 | EDAR,RANBP2 | c.330C>A (p.Asp110Glu) c.381C>A (p.Asp127Glu) c.474C>A (p.Asp158Glu) c.8370+156178G>T (n.8370+156178G>T) | |
2 | g.108929225T>A | CA348115592 | EDAR,RANBP2 | c.329A>T (p.Asp110Val) c.380A>T (p.Asp127Val) c.473A>T (p.Asp158Val) c.8370+156179T>A (n.8370+156179T>A) | |
2 | g.108929225T>C | CA348115591 | EDAR,RANBP2 | c.329A>G (p.Asp110Gly) c.380A>G (p.Asp127Gly) c.473A>G (p.Asp158Gly) c.8370+156179T>C (n.8370+156179T>C) | |
2 | g.108929225T>G | CA253632 | EDAR,RANBP2 | c.329A>C (p.Asp110Ala) c.380A>C (p.Asp127Ala) c.473A>C (p.Asp158Ala) c.8370+156179T>G (n.8370+156179T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929225T= | CA1278368524 | EDAR,RANBP2 | c.329A= (p.Asp110=) c.380A= (p.Asp127=) c.473A= (p.Asp158=) c.8370+156179T= (n.8370+156179T=) | |
2 | g.108929226C>A | CA348115593 | EDAR,RANBP2 | c.328G>T (p.Asp110Tyr) c.379G>T (p.Asp127Tyr) c.472G>T (p.Asp158Tyr) c.8370+156180C>A (n.8370+156180C>A) | |
2 | g.108929226C= | CA1278368525 | EDAR,RANBP2 | c.328G= (p.Asp110=) c.379G= (p.Asp127=) c.472G= (p.Asp158=) c.8370+156180C= (n.8370+156180C=) | |
2 | g.108929226C>G | CA348115594 | EDAR,RANBP2 | c.328G>C (p.Asp110His) c.379G>C (p.Asp127His) c.472G>C (p.Asp158His) c.8370+156180C>G (n.8370+156180C>G) | |
2 | g.108929226C>T | CA348115595 | EDAR,RANBP2 | c.328G>A (p.Asp110Asn) c.379G>A (p.Asp127Asn) c.472G>A (p.Asp158Asn) c.8370+156180C>T (n.8370+156180C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.108929227A>C | CA348115596 | EDAR,RANBP2 | c.327T>G (p.Asn109Lys) c.378T>G (p.Asn126Lys) c.471T>G (p.Asn157Lys) c.8370+156181A>C (n.8370+156181A>C) | |
2 | g.108929227A>G | CA428086812 | EDAR,RANBP2 | c.327T>C (p.Asn109=) c.378T>C (p.Asn126=) c.471T>C (p.Asn157=) c.8370+156181A>G (n.8370+156181A>G) | |
2 | g.108929227A>T | CA348115597 | EDAR,RANBP2 | c.327T>A (p.Asn109Lys) c.378T>A (p.Asn126Lys) c.471T>A (p.Asn157Lys) c.8370+156181A>T (n.8370+156181A>T) | |
2 | g.108929228T>A | CA348115598 | EDAR,RANBP2 | c.326A>T (p.Asn109Ile) c.377A>T (p.Asn126Ile) c.470A>T (p.Asn157Ile) c.8370+156182T>A (n.8370+156182T>A) | dbSNP |
2 | g.108929228T>C | CA348115599 | EDAR,RANBP2 | c.326A>G (p.Asn109Ser) c.377A>G (p.Asn126Ser) c.470A>G (p.Asn157Ser) c.8370+156182T>C (n.8370+156182T>C) | |
2 | g.108929228T>G | CA348115600 | EDAR,RANBP2 | c.326A>C (p.Asn109Thr) c.377A>C (p.Asn126Thr) c.470A>C (p.Asn157Thr) c.8370+156182T>G (n.8370+156182T>G) | |
2 | g.108929228T= | CA1278368526 | EDAR,RANBP2 | c.326A= (p.Asn109=) c.377A= (p.Asn126=) c.470A= (p.Asn157=) c.8370+156182T= (n.8370+156182T=) | |
2 | g.108929229T>A | CA348115601 | EDAR,RANBP2 | c.325A>T (p.Asn109Tyr) c.376A>T (p.Asn126Tyr) c.469A>T (p.Asn157Tyr) c.8370+156183T>A (n.8370+156183T>A) | dbSNP |
2 | g.108929229T>C | CA348115602 | EDAR,RANBP2 | c.325A>G (p.Asn109Asp) c.376A>G (p.Asn126Asp) c.469A>G (p.Asn157Asp) c.8370+156183T>C (n.8370+156183T>C) | |
2 | g.108929229T>G | CA348115603 | EDAR,RANBP2 | c.325A>C (p.Asn109His) c.376A>C (p.Asn126His) c.469A>C (p.Asn157His) c.8370+156183T>G (n.8370+156183T>G) | |
2 | g.108929229T= | CA1278368527 | EDAR,RANBP2 | c.325A= (p.Asn109=) c.376A= (p.Asn126=) c.469A= (p.Asn157=) c.8370+156183T= (n.8370+156183T=) | |
2 | g.108929230C>A | CA348115604 | EDAR,RANBP2 | c.324G>T (p.Glu108Asp) c.375G>T (p.Glu125Asp) c.468G>T (p.Glu156Asp) c.8370+156184C>A (n.8370+156184C>A) | |
2 | g.108929230C>G | CA348115605 | EDAR,RANBP2 | c.324G>C (p.Glu108Asp) c.375G>C (p.Glu125Asp) c.468G>C (p.Glu156Asp) c.8370+156184C>G (n.8370+156184C>G) | |
2 | g.108929230C>T | CA428086813 | EDAR,RANBP2 | c.324G>A (p.Glu108=) c.375G>A (p.Glu125=) c.468G>A (p.Glu156=) c.8370+156184C>T (n.8370+156184C>T) | COSMIC |
2 | g.108929231T>A | CA348115607 | EDAR,RANBP2 | c.323A>T (p.Glu108Val) c.374A>T (p.Glu125Val) c.467A>T (p.Glu156Val) c.8370+156185T>A (n.8370+156185T>A) | |
2 | g.108929231T>C | CA348115608 | EDAR,RANBP2 | c.323A>G (p.Glu108Gly) c.374A>G (p.Glu125Gly) c.467A>G (p.Glu156Gly) c.8370+156185T>C (n.8370+156185T>C) | |
2 | g.108929231T>G | CA348115606 | EDAR,RANBP2 | c.323A>C (p.Glu108Ala) c.374A>C (p.Glu125Ala) c.467A>C (p.Glu156Ala) c.8370+156185T>G (n.8370+156185T>G) | |
2 | g.108929232C>A | CA348115609 | EDAR,RANBP2 | c.322G>T (p.Glu108Ter) c.373G>T (p.Glu125Ter) c.466G>T (p.Glu156Ter) c.8370+156186C>A (n.8370+156186C>A) | |
2 | g.108929232C>G | CA348115610 | EDAR,RANBP2 | c.322G>C (p.Glu108Gln) c.373G>C (p.Glu125Gln) c.466G>C (p.Glu156Gln) c.8370+156186C>G (n.8370+156186C>G) | gnomAD v4 |
2 | g.108929232C>T | CA348115611 | EDAR,RANBP2 | c.322G>A (p.Glu108Lys) c.373G>A (p.Glu125Lys) c.466G>A (p.Glu156Lys) c.8370+156186C>T (n.8370+156186C>T) | |
2 | g.108929233C>A | CA348115612 | EDAR,RANBP2 | c.321G>T (p.Met107Ile) c.372G>T (p.Met124Ile) c.465G>T (p.Met155Ile) c.8370+156187C>A (n.8370+156187C>A) | |
2 | g.108929233C>G | CA348115613 | EDAR,RANBP2 | c.321G>C (p.Met107Ile) c.372G>C (p.Met124Ile) c.465G>C (p.Met155Ile) c.8370+156187C>G (n.8370+156187C>G) | |
2 | g.108929233C>T | CA348115614 | EDAR,RANBP2 | c.321G>A (p.Met107Ile) c.372G>A (p.Met124Ile) c.465G>A (p.Met155Ile) c.8370+156187C>T (n.8370+156187C>T) | ClinVar gnomAD v4 |
2 | g.108929234A= | CA1278368528 | EDAR,RANBP2 | c.320T= (p.Met107=) c.371T= (p.Met124=) c.464T= (p.Met155=) c.8370+156188A= (n.8370+156188A=) | |
2 | g.108929234A>C | CA348115617 | EDAR,RANBP2 | c.320T>G (p.Met107Arg) c.371T>G (p.Met124Arg) c.464T>G (p.Met155Arg) c.8370+156188A>C (n.8370+156188A>C) | |
2 | g.108929234A>G | CA348115615 | EDAR,RANBP2 | c.320T>C (p.Met107Thr) c.371T>C (p.Met124Thr) c.464T>C (p.Met155Thr) c.8370+156188A>G (n.8370+156188A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929234A>T | CA348115616 | EDAR,RANBP2 | c.320T>A (p.Met107Lys) c.371T>A (p.Met124Lys) c.464T>A (p.Met155Lys) c.8370+156188A>T (n.8370+156188A>T) | |
2 | g.108929235T>A | CA348115618 | EDAR,RANBP2 | c.319A>T (p.Met107Leu) c.370A>T (p.Met124Leu) c.463A>T (p.Met155Leu) c.8370+156189T>A (n.8370+156189T>A) | |
2 | g.108929235T>C | CA1825128 | EDAR,RANBP2 | c.319A>G (p.Met107Val) c.370A>G (p.Met124Val) c.463A>G (p.Met155Val) c.8370+156189T>C (n.8370+156189T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929235T>G | CA348115619 | EDAR,RANBP2 | c.319A>C (p.Met107Leu) c.370A>C (p.Met124Leu) c.463A>C (p.Met155Leu) c.8370+156189T>G (n.8370+156189T>G) | |
2 | g.108929235T= | CA1278368529 | EDAR,RANBP2 | c.319A= (p.Met107=) c.370A= (p.Met124=) c.463A= (p.Met155=) c.8370+156189T= (n.8370+156189T=) | |
2 | g.108929236G>A | CA428086815 | EDAR,RANBP2 | c.318C>T (p.Asp106=) c.369C>T (p.Asp123=) c.462C>T (p.Asp154=) c.8370+156190G>A (n.8370+156190G>A) | gnomAD v4 |
2 | g.108929236G>C | CA348115620 | EDAR,RANBP2 | c.318C>G (p.Asp106Glu) c.369C>G (p.Asp123Glu) c.462C>G (p.Asp154Glu) c.8370+156190G>C (n.8370+156190G>C) | |
2 | g.108929236G>T | CA348115621 | EDAR,RANBP2 | c.318C>A (p.Asp106Glu) c.369C>A (p.Asp123Glu) c.462C>A (p.Asp154Glu) c.8370+156190G>T (n.8370+156190G>T) | COSMIC COSMIC |
2 | g.108929237T>A | CA348115623 | EDAR,RANBP2 | c.317A>T (p.Asp106Val) c.368A>T (p.Asp123Val) c.461A>T (p.Asp154Val) c.8370+156191T>A (n.8370+156191T>A) | |
2 | g.108929237T>C | CA1825129 | EDAR,RANBP2 | c.317A>G (p.Asp106Gly) c.368A>G (p.Asp123Gly) c.461A>G (p.Asp154Gly) c.8370+156191T>C (n.8370+156191T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929237T>G | CA348115622 | EDAR,RANBP2 | c.317A>C (p.Asp106Ala) c.368A>C (p.Asp123Ala) c.461A>C (p.Asp154Ala) c.8370+156191T>G (n.8370+156191T>G) | |
2 | g.108929237T= | CA1278368530 | EDAR,RANBP2 | c.317A= (p.Asp106=) c.368A= (p.Asp123=) c.461A= (p.Asp154=) c.8370+156191T= (n.8370+156191T=) | |
2 | g.108929238C>A | CA348115624 | EDAR,RANBP2 | c.316G>T (p.Asp106Tyr) c.367G>T (p.Asp123Tyr) c.460G>T (p.Asp154Tyr) c.8370+156192C>A (n.8370+156192C>A) | |
2 | g.108929238C>G | CA348115625 | EDAR,RANBP2 | c.316G>C (p.Asp106His) c.367G>C (p.Asp123His) c.460G>C (p.Asp154His) c.8370+156192C>G (n.8370+156192C>G) | |
2 | g.108929238C>T | CA348115626 | EDAR,RANBP2 | c.316G>A (p.Asp106Asn) c.367G>A (p.Asp123Asn) c.460G>A (p.Asp154Asn) c.8370+156192C>T (n.8370+156192C>T) | gnomAD v4 |
2 | g.108929239C>A | CA428086816 | EDAR,RANBP2 | c.315G>T (p.Gly105=) c.366G>T (p.Gly122=) c.459G>T (p.Gly153=) c.8370+156193C>A (n.8370+156193C>A) | gnomAD v4 |
2 | g.108929239C= | CA1278368531 | EDAR,RANBP2 | c.315G= (p.Gly105=) c.366G= (p.Gly122=) c.459G= (p.Gly153=) c.8370+156193C= (n.8370+156193C=) | |
2 | g.108929239C>G | CA428086817 | EDAR,RANBP2 | c.315G>C (p.Gly105=) c.366G>C (p.Gly122=) c.459G>C (p.Gly153=) c.8370+156193C>G (n.8370+156193C>G) | |
2 | g.108929239C>T | CA54012143 | EDAR,RANBP2 | c.315G>A (p.Gly105=) c.366G>A (p.Gly122=) c.459G>A (p.Gly153=) c.8370+156193C>T (n.8370+156193C>T) | dbSNP |
2 | g.108929240C>A | CA348115627 | EDAR,RANBP2 | c.314G>T (p.Gly105Val) c.365G>T (p.Gly122Val) c.458G>T (p.Gly153Val) c.8370+156194C>A (n.8370+156194C>A) | |
2 | g.108929240C= | CA1278368532 | EDAR,RANBP2 | c.314G= (p.Gly105=) c.365G= (p.Gly122=) c.458G= (p.Gly153=) c.8370+156194C= (n.8370+156194C=) | |
2 | g.108929240C>G | CA348115628 | EDAR,RANBP2 | c.314G>C (p.Gly105Ala) c.365G>C (p.Gly122Ala) c.458G>C (p.Gly153Ala) c.8370+156194C>G (n.8370+156194C>G) | |
2 | g.108929240C>T | CA348115629 | EDAR,RANBP2 | c.314G>A (p.Gly105Glu) c.365G>A (p.Gly122Glu) c.458G>A (p.Gly153Glu) c.8370+156194C>T (n.8370+156194C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929241C>A | CA348115630 | EDAR,RANBP2 | c.313G>T (p.Gly105Trp) c.364G>T (p.Gly122Trp) c.457G>T (p.Gly153Trp) c.8370+156195C>A (n.8370+156195C>A) | |
2 | g.108929241C>G | CA348115631 | EDAR,RANBP2 | c.313G>C (p.Gly105Arg) c.364G>C (p.Gly122Arg) c.457G>C (p.Gly153Arg) c.8370+156195C>G (n.8370+156195C>G) | gnomAD v4 |
2 | g.108929241C>T | CA348115632 | EDAR,RANBP2 | c.313G>A (p.Gly105Arg) c.364G>A (p.Gly122Arg) c.457G>A (p.Gly153Arg) c.8370+156195C>T (n.8370+156195C>T) | |
2 | g.108929242T>A | CA428086818 | EDAR,RANBP2 | c.312A>T (p.Pro104=) c.363A>T (p.Pro121=) c.456A>T (p.Pro152=) c.8370+156196T>A (n.8370+156196T>A) | |
2 | g.108929242T>C | CA428086820 | EDAR,RANBP2 | c.312A>G (p.Pro104=) c.363A>G (p.Pro121=) c.456A>G (p.Pro152=) c.8370+156196T>C (n.8370+156196T>C) | |
2 | g.108929242T>G | CA428086819 | EDAR,RANBP2 | c.312A>C (p.Pro104=) c.363A>C (p.Pro121=) c.456A>C (p.Pro152=) c.8370+156196T>G (n.8370+156196T>G) | |
2 | g.108929243G>A | CA348115633 | EDAR,RANBP2 | c.311C>T (p.Pro104Leu) c.362C>T (p.Pro121Leu) c.455C>T (p.Pro152Leu) c.8370+156197G>A (n.8370+156197G>A) | |
2 | g.108929243G>C | CA348115634 | EDAR,RANBP2 | c.311C>G (p.Pro104Arg) c.362C>G (p.Pro121Arg) c.455C>G (p.Pro152Arg) c.8370+156197G>C (n.8370+156197G>C) | |
2 | g.108929243G>T | CA348115635 | EDAR,RANBP2 | c.311C>A (p.Pro104Gln) c.362C>A (p.Pro121Gln) c.455C>A (p.Pro152Gln) c.8370+156197G>T (n.8370+156197G>T) | |
2 | g.108929244G>A | CA348115636 | EDAR,RANBP2 | c.310C>T (p.Pro104Ser) c.361C>T (p.Pro121Ser) c.454C>T (p.Pro152Ser) c.8370+156198G>A (n.8370+156198G>A) | |
2 | g.108929244G>C | CA348115638 | EDAR,RANBP2 | c.310C>G (p.Pro104Ala) c.361C>G (p.Pro121Ala) c.454C>G (p.Pro152Ala) c.8370+156198G>C (n.8370+156198G>C) | |
2 | g.108929244G>T | CA348115637 | EDAR,RANBP2 | c.310C>A (p.Pro104Thr) c.361C>A (p.Pro121Thr) c.454C>A (p.Pro152Thr) c.8370+156198G>T (n.8370+156198G>T) | |
2 | g.108929245T>A | CA428086821 | EDAR,RANBP2 | c.309A>T (p.Thr103=) c.360A>T (p.Thr120=) c.453A>T (p.Thr151=) c.8370+156199T>A (n.8370+156199T>A) | |
2 | g.108929245T>C | CA428086822 | EDAR,RANBP2 | c.309A>G (p.Thr103=) c.360A>G (p.Thr120=) c.453A>G (p.Thr151=) c.8370+156199T>C (n.8370+156199T>C) | |
2 | g.108929245T>G | CA428086823 | EDAR,RANBP2 | c.309A>C (p.Thr103=) c.360A>C (p.Thr120=) c.453A>C (p.Thr151=) c.8370+156199T>G (n.8370+156199T>G) | |
2 | g.108929245dup | CA2700333675 | EDAR,RANBP2 | c.309dup (p.Pro104ThrfsTer7) c.360dup (p.Pro121ThrfsTer7) c.453dup (p.Pro152ThrfsTer7) c.8370+156199dup (n.8370+156199dup) | dbSNP |
2 | g.108929246G>A | CA348115639 | EDAR,RANBP2 | c.308C>T (p.Thr103Ile) c.359C>T (p.Thr120Ile) c.452C>T (p.Thr151Ile) c.8370+156200G>A (n.8370+156200G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929246G>C | CA348115640 | EDAR,RANBP2 | c.308C>G (p.Thr103Arg) c.359C>G (p.Thr120Arg) c.452C>G (p.Thr151Arg) c.8370+156200G>C (n.8370+156200G>C) | |
2 | g.108929246G= | CA1278368533 | EDAR,RANBP2 | c.308C= (p.Thr103=) c.359C= (p.Thr120=) c.452C= (p.Thr151=) c.8370+156200G= (n.8370+156200G=) | |
2 | g.108929246G>T | CA348115641 | EDAR,RANBP2 | c.308C>A (p.Thr103Lys) c.359C>A (p.Thr120Lys) c.452C>A (p.Thr151Lys) c.8370+156200G>T (n.8370+156200G>T) | |
2 | g.108929247T>A | CA348115642 | EDAR,RANBP2 | c.307A>T (p.Thr103Ser) c.358A>T (p.Thr120Ser) c.451A>T (p.Thr151Ser) c.8370+156201T>A (n.8370+156201T>A) | |
2 | g.108929247T>C | CA348115643 | EDAR,RANBP2 | c.307A>G (p.Thr103Ala) c.358A>G (p.Thr120Ala) c.451A>G (p.Thr151Ala) c.8370+156201T>C (n.8370+156201T>C) | |
2 | g.108929247T>G | CA348115644 | EDAR,RANBP2 | c.307A>C (p.Thr103Pro) c.358A>C (p.Thr120Pro) c.451A>C (p.Thr151Pro) c.8370+156201T>G (n.8370+156201T>G) | |
2 | g.108929248C>A | CA428086824 | EDAR,RANBP2 | c.306G>T (p.Leu102=) c.357G>T (p.Leu119=) c.450G>T (p.Leu150=) c.8370+156202C>A (n.8370+156202C>A) | |
2 | g.108929248C= | CA1278368534 | EDAR,RANBP2 | c.306G= (p.Leu102=) c.357G= (p.Leu119=) c.450G= (p.Leu150=) c.8370+156202C= (n.8370+156202C=) | |
2 | g.108929248C>G | CA428086825 | EDAR,RANBP2 | c.306G>C (p.Leu102=) c.357G>C (p.Leu119=) c.450G>C (p.Leu150=) c.8370+156202C>G (n.8370+156202C>G) | |
2 | g.108929248C>T | CA54012144 | EDAR,RANBP2 | c.306G>A (p.Leu102=) c.357G>A (p.Leu119=) c.450G>A (p.Leu150=) c.8370+156202C>T (n.8370+156202C>T) | dbSNP |
2 | g.108929249A>C | CA348115645 | EDAR,RANBP2 | c.305T>G (p.Leu102Arg) c.356T>G (p.Leu119Arg) c.449T>G (p.Leu150Arg) c.8370+156203A>C (n.8370+156203A>C) | |
2 | g.108929249A>G | CA348115646 | EDAR,RANBP2 | c.305T>C (p.Leu102Pro) c.356T>C (p.Leu119Pro) c.449T>C (p.Leu150Pro) c.8370+156203A>G (n.8370+156203A>G) | |
2 | g.108929249A>T | CA348115647 | EDAR,RANBP2 | c.305T>A (p.Leu102Gln) c.356T>A (p.Leu119Gln) c.449T>A (p.Leu150Gln) c.8370+156203A>T (n.8370+156203A>T) | |
2 | g.108929250G>A | CA428086826 | EDAR,RANBP2 | c.304C>T (p.Leu102=) c.355C>T (p.Leu119=) c.448C>T (p.Leu150=) c.8370+156204G>A (n.8370+156204G>A) | |
2 | g.108929250G>C | CA348115648 | EDAR,RANBP2 | c.304C>G (p.Leu102Val) c.355C>G (p.Leu119Val) c.448C>G (p.Leu150Val) c.8370+156204G>C (n.8370+156204G>C) | |
2 | g.108929250G>T | CA348115649 | EDAR,RANBP2 | c.304C>A (p.Leu102Met) c.355C>A (p.Leu119Met) c.448C>A (p.Leu150Met) c.8370+156204G>T (n.8370+156204G>T) | |
2 | g.108929251C>A | CA428086828 | EDAR,RANBP2 | c.303G>T (p.Val101=) c.354G>T (p.Val118=) c.447G>T (p.Val149=) c.8370+156205C>A (n.8370+156205C>A) | |
2 | g.108929251C>G | CA428086829 | EDAR,RANBP2 | c.303G>C (p.Val101=) c.354G>C (p.Val118=) c.447G>C (p.Val149=) c.8370+156205C>G (n.8370+156205C>G) | |
2 | g.108929251C>T | CA428086827 | EDAR,RANBP2 | c.303G>A (p.Val101=) c.354G>A (p.Val118=) c.447G>A (p.Val149=) c.8370+156205C>T (n.8370+156205C>T) | |
2 | g.108929252A>C | CA348115652 | EDAR,RANBP2 | c.302T>G (p.Val101Gly) c.353T>G (p.Val118Gly) c.446T>G (p.Val149Gly) c.8370+156206A>C (n.8370+156206A>C) | |
2 | g.108929252A>G | CA348115650 | EDAR,RANBP2 | c.302T>C (p.Val101Ala) c.353T>C (p.Val118Ala) c.446T>C (p.Val149Ala) c.8370+156206A>G (n.8370+156206A>G) | |
2 | g.108929252A>T | CA348115651 | EDAR,RANBP2 | c.302T>A (p.Val101Glu) c.353T>A (p.Val118Glu) c.446T>A (p.Val149Glu) c.8370+156206A>T (n.8370+156206A>T) | |
2 | g.108929253C>A | CA348115653 | EDAR,RANBP2 | c.301G>T (p.Val101Leu) c.352G>T (p.Val118Leu) c.445G>T (p.Val149Leu) c.8370+156207C>A (n.8370+156207C>A) | |
2 | g.108929253C= | CA1278368535 | EDAR,RANBP2 | c.301G= (p.Val101=) c.352G= (p.Val118=) c.445G= (p.Val149=) c.8370+156207C= (n.8370+156207C=) | |
2 | g.108929253C>G | CA348115654 | EDAR,RANBP2 | c.301G>C (p.Val101Leu) c.352G>C (p.Val118Leu) c.445G>C (p.Val149Leu) c.8370+156207C>G (n.8370+156207C>G) | |
2 | g.108929253C>T | CA1825130 | EDAR,RANBP2 | c.301G>A (p.Val101Met) c.352G>A (p.Val118Met) c.445G>A (p.Val149Met) c.8370+156207C>T (n.8370+156207C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929254G>A | CA1825131 | EDAR,RANBP2 | c.300C>T (p.Thr100=) c.351C>T (p.Thr117=) c.444C>T (p.Thr148=) c.8370+156208G>A (n.8370+156208G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929254G>C | CA428086830 | EDAR,RANBP2 | c.300C>G (p.Thr100=) c.351C>G (p.Thr117=) c.444C>G (p.Thr148=) c.8370+156208G>C (n.8370+156208G>C) | gnomAD v4 |
2 | g.108929254G= | CA1278368536 | EDAR,RANBP2 | c.300C= (p.Thr100=) c.351C= (p.Thr117=) c.444C= (p.Thr148=) c.8370+156208G= (n.8370+156208G=) | |
2 | g.108929254G>T | CA428086831 | EDAR,RANBP2 | c.300C>A (p.Thr100=) c.351C>A (p.Thr117=) c.444C>A (p.Thr148=) c.8370+156208G>T (n.8370+156208G>T) | |
2 | g.108929255G>A | CA1825132 | EDAR,RANBP2 | c.299C>T (p.Thr100Ile) c.350C>T (p.Thr117Ile) c.443C>T (p.Thr148Ile) c.8370+156209G>A (n.8370+156209G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929255G>C | CA348115655 | EDAR,RANBP2 | c.299C>G (p.Thr100Ser) c.350C>G (p.Thr117Ser) c.443C>G (p.Thr148Ser) c.8370+156209G>C (n.8370+156209G>C) | |
2 | g.108929255G= | CA1278368537 | EDAR,RANBP2 | c.299C= (p.Thr100=) c.350C= (p.Thr117=) c.443C= (p.Thr148=) c.8370+156209G= (n.8370+156209G=) | |
2 | g.108929255G>T | CA348115656 | EDAR,RANBP2 | c.299C>A (p.Thr100Asn) c.350C>A (p.Thr117Asn) c.443C>A (p.Thr148Asn) c.8370+156209G>T (n.8370+156209G>T) | |
2 | g.108929256T>A | CA348115657 | EDAR,RANBP2 | c.298A>T (p.Thr100Ser) c.349A>T (p.Thr117Ser) c.442A>T (p.Thr148Ser) c.8370+156210T>A (n.8370+156210T>A) | |
2 | g.108929256T>C | CA348115658 | EDAR,RANBP2 | c.298A>G (p.Thr100Ala) c.349A>G (p.Thr117Ala) c.442A>G (p.Thr148Ala) c.8370+156210T>C (n.8370+156210T>C) | gnomAD v4 |
2 | g.108929256T>G | CA348115659 | EDAR,RANBP2 | c.298A>C (p.Thr100Pro) c.349A>C (p.Thr117Pro) c.442A>C (p.Thr148Pro) c.8370+156210T>G (n.8370+156210T>G) | |
2 | g.108929257G>A | CA1825133 | EDAR,RANBP2 | c.297C>T (p.Ala99=) c.348C>T (p.Ala116=) c.441C>T (p.Ala147=) c.8370+156211G>A (n.8370+156211G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929257G>C | CA428086832 | EDAR,RANBP2 | c.297C>G (p.Ala99=) c.348C>G (p.Ala116=) c.441C>G (p.Ala147=) c.8370+156211G>C (n.8370+156211G>C) | |
2 | g.108929257G= | CA1278368538 | EDAR,RANBP2 | c.297C= (p.Ala99=) c.348C= (p.Ala116=) c.441C= (p.Ala147=) c.8370+156211G= (n.8370+156211G=) | |
2 | g.108929257G>T | CA428086833 | EDAR,RANBP2 | c.297C>A (p.Ala99=) c.348C>A (p.Ala116=) c.441C>A (p.Ala147=) c.8370+156211G>T (n.8370+156211G>T) | |
2 | g.108929258G>A | CA348115662 | EDAR,RANBP2 | c.296C>T (p.Ala99Val) c.347C>T (p.Ala116Val) c.440C>T (p.Ala147Val) c.8370+156212G>A (n.8370+156212G>A) | |
2 | g.108929258G>C | CA348115661 | EDAR,RANBP2 | c.296C>G (p.Ala99Gly) c.347C>G (p.Ala116Gly) c.440C>G (p.Ala147Gly) c.8370+156212G>C (n.8370+156212G>C) | |
2 | g.108929258G>T | CA348115660 | EDAR,RANBP2 | c.296C>A (p.Ala99Asp) c.347C>A (p.Ala116Asp) c.440C>A (p.Ala147Asp) c.8370+156212G>T (n.8370+156212G>T) | |
2 | g.108929259C>A | CA348115663 | EDAR,RANBP2 | c.295G>T (p.Ala99Ser) c.346G>T (p.Ala116Ser) c.439G>T (p.Ala147Ser) c.8370+156213C>A (n.8370+156213C>A) | |
2 | g.108929259C= | CA1278368539 | EDAR,RANBP2 | c.295G= (p.Ala99=) c.346G= (p.Ala116=) c.439G= (p.Ala147=) c.8370+156213C= (n.8370+156213C=) | |
2 | g.108929259C>G | CA348115664 | EDAR,RANBP2 | c.295G>C (p.Ala99Pro) c.346G>C (p.Ala116Pro) c.439G>C (p.Ala147Pro) c.8370+156213C>G (n.8370+156213C>G) | |
2 | g.108929259C>T | CA1825134 | EDAR,RANBP2 | c.295G>A (p.Ala99Thr) c.346G>A (p.Ala116Thr) c.439G>A (p.Ala147Thr) c.8370+156213C>T (n.8370+156213C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929260C>A | CA428086834 | EDAR,RANBP2 | c.294G>T (p.Arg98=) c.345G>T (p.Arg115=) c.438G>T (p.Arg146=) c.8370+156214C>A (n.8370+156214C>A) | |
2 | g.108929260C= | CA1278368540 | EDAR,RANBP2 | c.294G= (p.Arg98=) c.345G= (p.Arg115=) c.438G= (p.Arg146=) c.8370+156214C= (n.8370+156214C=) | |
2 | g.108929260C>G | CA428086835 | EDAR,RANBP2 | c.294G>C (p.Arg98=) c.345G>C (p.Arg115=) c.438G>C (p.Arg146=) c.8370+156214C>G (n.8370+156214C>G) | |
2 | g.108929260C>T | CA428086836 | EDAR,RANBP2 | c.294G>A (p.Arg98=) c.345G>A (p.Arg115=) c.438G>A (p.Arg146=) c.8370+156214C>T (n.8370+156214C>T) | dbSNP |
2 | g.108929261C>A | CA348115665 | EDAR,RANBP2 | c.293G>T (p.Arg98Leu) c.344G>T (p.Arg115Leu) c.437G>T (p.Arg146Leu) c.8370+156215C>A (n.8370+156215C>A) | |
2 | g.108929261C= | CA1278368541 | EDAR,RANBP2 | c.293G= (p.Arg98=) c.344G= (p.Arg115=) c.437G= (p.Arg146=) c.8370+156215C= (n.8370+156215C=) | |
2 | g.108929261C>G | CA1825136 | EDAR,RANBP2 | c.293G>C (p.Arg98Pro) c.344G>C (p.Arg115Pro) c.437G>C (p.Arg146Pro) c.8370+156215C>G (n.8370+156215C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929261C>T | CA1825135 | EDAR,RANBP2 | c.293G>A (p.Arg98Gln) c.344G>A (p.Arg115Gln) c.437G>A (p.Arg146Gln) c.8370+156215C>T (n.8370+156215C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.108929262G>A | CA54012145 | EDAR,RANBP2 | c.292C>T (p.Arg98Trp) c.343C>T (p.Arg115Trp) c.436C>T (p.Arg146Trp) c.8370+156216G>A (n.8370+156216G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929262G>C | CA348115666 | EDAR,RANBP2 | c.292C>G (p.Arg98Gly) c.343C>G (p.Arg115Gly) c.436C>G (p.Arg146Gly) c.8370+156216G>C (n.8370+156216G>C) | |
2 | g.108929262G= | CA1278368542 | EDAR,RANBP2 | c.292C= (p.Arg98=) c.343C= (p.Arg115=) c.436C= (p.Arg146=) c.8370+156216G= (n.8370+156216G=) | |
2 | g.108929262G>T | CA1825137 | EDAR,RANBP2 | c.292C>A (p.Arg98=) c.343C>A (p.Arg115=) c.436C>A (p.Arg146=) c.8370+156216G>T (n.8370+156216G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108929263G>A | CA428086837 | EDAR,RANBP2 | c.291C>T (p.Phe97=) c.342C>T (p.Phe114=) c.435C>T (p.Phe145=) c.8370+156217G>A (n.8370+156217G>A) | |
2 | g.108929263G>C | CA348115667 | EDAR,RANBP2 | c.291C>G (p.Phe97Leu) c.342C>G (p.Phe114Leu) c.435C>G (p.Phe145Leu) c.8370+156217G>C (n.8370+156217G>C) | |
2 | g.108929263G>T | CA348115668 | EDAR,RANBP2 | c.291C>A (p.Phe97Leu) c.342C>A (p.Phe114Leu) c.435C>A (p.Phe145Leu) c.8370+156217G>T (n.8370+156217G>T) | |
2 | g.108929264A>C | CA348115669 | EDAR,RANBP2 | c.290T>G (p.Phe97Cys) c.341T>G (p.Phe114Cys) c.434T>G (p.Phe145Cys) c.8370+156218A>C (n.8370+156218A>C) | |
2 | g.108929264A>G | CA348115670 | EDAR,RANBP2 | c.290T>C (p.Phe97Ser) c.341T>C (p.Phe114Ser) c.434T>C (p.Phe145Ser) c.8370+156218A>G (n.8370+156218A>G) | |
2 | g.108929264A>T | CA348115671 | EDAR,RANBP2 | c.290T>A (p.Phe97Tyr) c.341T>A (p.Phe114Tyr) c.434T>A (p.Phe145Tyr) c.8370+156218A>T (n.8370+156218A>T) | |
2 | g.108929265A= | CA1278368543 | EDAR,RANBP2 | c.289T= (p.Phe97=) c.340T= (p.Phe114=) c.433T= (p.Phe145=) c.8370+156219A= (n.8370+156219A=) | |
2 | g.108929265A>C | CA348115672 | EDAR,RANBP2 | c.289T>G (p.Phe97Val) c.340T>G (p.Phe114Val) c.433T>G (p.Phe145Val) c.8370+156219A>C (n.8370+156219A>C) | |
2 | g.108929265A>G | CA348115673 | EDAR,RANBP2 | c.289T>C (p.Phe97Leu) c.340T>C (p.Phe114Leu) c.433T>C (p.Phe145Leu) c.8370+156219A>G (n.8370+156219A>G) | dbSNP gnomAD v4 |
2 | g.108929265A>T | CA348115674 | EDAR,RANBP2 | c.289T>A (p.Phe97Ile) c.340T>A (p.Phe114Ile) c.433T>A (p.Phe145Ile) c.8370+156219A>T (n.8370+156219A>T) | |
2 | g.108929266G>A | CA428086838 | EDAR,RANBP2 | c.288C>T (p.Phe96=) c.339C>T (p.Phe113=) c.432C>T (p.Phe144=) c.8370+156220G>A (n.8370+156220G>A) | COSMIC COSMIC |
2 | g.108929266G>C | CA348115676 | EDAR,RANBP2 | c.288C>G (p.Phe96Leu) c.339C>G (p.Phe113Leu) c.432C>G (p.Phe144Leu) c.8370+156220G>C (n.8370+156220G>C) | |
2 | g.108929266G>T | CA348115675 | EDAR,RANBP2 | c.288C>A (p.Phe96Leu) c.339C>A (p.Phe113Leu) c.432C>A (p.Phe144Leu) c.8370+156220G>T (n.8370+156220G>T) | |
2 | g.108929267A= | CA1278368544 | EDAR,RANBP2 | c.287T= (p.Phe96=) c.338T= (p.Phe113=) c.431T= (p.Phe144=) c.8370+156221A= (n.8370+156221A=) | |
2 | g.108929267A>C | CA348115677 | EDAR,RANBP2 | c.287T>G (p.Phe96Cys) c.338T>G (p.Phe113Cys) c.431T>G (p.Phe144Cys) c.8370+156221A>C (n.8370+156221A>C) | |
2 | g.108929267A>G | CA348115678 | EDAR,RANBP2 | c.287T>C (p.Phe96Ser) c.338T>C (p.Phe113Ser) c.431T>C (p.Phe144Ser) c.8370+156221A>G (n.8370+156221A>G) | ClinVar dbSNP |
2 | g.108929267A>T | CA348115679 | EDAR,RANBP2 | c.287T>A (p.Phe96Tyr) c.338T>A (p.Phe113Tyr) c.431T>A (p.Phe144Tyr) c.8370+156221A>T (n.8370+156221A>T) | |
2 | g.108929268A>C | CA348115680 | EDAR,RANBP2 | c.286T>G (p.Phe96Val) c.337T>G (p.Phe113Val) c.430T>G (p.Phe144Val) c.8370+156222A>C (n.8370+156222A>C) | |
2 | g.108929268A>G | CA348115681 | EDAR,RANBP2 | c.286T>C (p.Phe96Leu) c.337T>C (p.Phe113Leu) c.430T>C (p.Phe144Leu) c.8370+156222A>G (n.8370+156222A>G) | gnomAD v4 |
2 | g.108929268A>T | CA348115682 | EDAR,RANBP2 | c.286T>A (p.Phe96Ile) c.337T>A (p.Phe113Ile) c.430T>A (p.Phe144Ile) c.8370+156222A>T (n.8370+156222A>T) | |
2 | g.108929269G>A | CA428086839 | EDAR,RANBP2 | c.285C>T (p.Gly95=) c.336C>T (p.Gly112=) c.429C>T (p.Gly143=) c.8370+156223G>A (n.8370+156223G>A) | |
2 | g.108929269G>C | CA428086840 | EDAR,RANBP2 | c.285C>G (p.Gly95=) c.336C>G (p.Gly112=) c.429C>G (p.Gly143=) c.8370+156223G>C (n.8370+156223G>C) | |
2 | g.108929269G>T | CA428086841 | EDAR,RANBP2 | c.285C>A (p.Gly95=) c.336C>A (p.Gly112=) c.429C>A (p.Gly143=) c.8370+156223G>T (n.8370+156223G>T) | |
2 | g.108929269_108929270delinsGC | CA1278368545 | EDAR,RANBP2 | c.284_285delinsGC (p.Gly95=) c.335_336delinsGC (p.Gly112=) c.428_429delinsGC (p.Gly143=) c.8370+156223_8370+156224delinsGC (n.8370+156223_8370+156224delinsGC) | |
2 | g.108929270C>A | CA348115683 | EDAR,RANBP2 | c.284G>T (p.Gly95Val) c.335G>T (p.Gly112Val) c.428G>T (p.Gly143Val) c.8370+156224C>A (n.8370+156224C>A) | dbSNP gnomAD v4 |
2 | g.108929270C= | CA1278368546 | EDAR,RANBP2 | c.284G= (p.Gly95=) c.335G= (p.Gly112=) c.428G= (p.Gly143=) c.8370+156224C= (n.8370+156224C=) | |
2 | g.108929270C>G | CA348115684 | EDAR,RANBP2 | c.284G>C (p.Gly95Ala) c.335G>C (p.Gly112Ala) c.428G>C (p.Gly143Ala) c.8370+156224C>G (n.8370+156224C>G) | |
2 | g.108929270C>T | CA348115685 | EDAR,RANBP2 | c.284G>A (p.Gly95Asp) c.335G>A (p.Gly112Asp) c.428G>A (p.Gly143Asp) c.8370+156224C>T (n.8370+156224C>T) | gnomAD v4 |
2 | g.108929272del | CA16616897 | EDAR,RANBP2 | c.284del (p.Gly95AlafsTer8) c.335del (p.Gly112AlafsTer8) c.428del (p.Gly143AlafsTer8) c.8370+156226del (n.8370+156226del) | ClinVar dbSNP |
2 | g.108929271C>A | CA348115686 | EDAR,RANBP2 | c.283G>T (p.Gly95Cys) c.334G>T (p.Gly112Cys) c.427G>T (p.Gly143Cys) c.8370+156225C>A (n.8370+156225C>A) | |
2 | g.108929271C= | CA1278368547 | EDAR,RANBP2 | c.283G= (p.Gly95=) c.334G= (p.Gly112=) c.427G= (p.Gly143=) c.8370+156225C= (n.8370+156225C=) | |
2 | g.108929271C>G | CA348115687 | EDAR,RANBP2 | c.283G>C (p.Gly95Arg) c.334G>C (p.Gly112Arg) c.427G>C (p.Gly143Arg) c.8370+156225C>G (n.8370+156225C>G) | gnomAD v4 |
2 | g.108929271C>T | CA1825138 | EDAR,RANBP2 | c.283G>A (p.Gly95Ser) c.334G>A (p.Gly112Ser) c.427G>A (p.Gly143Ser) c.8370+156225C>T (n.8370+156225C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929272C>A | CA348115688 | EDAR,RANBP2 | c.282G>T (p.Glu94Asp) c.333G>T (p.Glu111Asp) c.426G>T (p.Glu142Asp) c.8370+156226C>A (n.8370+156226C>A) | |
2 | g.108929272C>G | CA348115689 | EDAR,RANBP2 | c.282G>C (p.Glu94Asp) c.333G>C (p.Glu111Asp) c.426G>C (p.Glu142Asp) c.8370+156226C>G (n.8370+156226C>G) | |
2 | g.108929272C>T | CA428086842 | EDAR,RANBP2 | c.282G>A (p.Glu94=) c.333G>A (p.Glu111=) c.426G>A (p.Glu142=) c.8370+156226C>T (n.8370+156226C>T) | gnomAD v4 |
2 | g.108929273T>A | CA348115690 | EDAR,RANBP2 | c.281A>T (p.Glu94Val) c.332A>T (p.Glu111Val) c.425A>T (p.Glu142Val) c.8370+156227T>A (n.8370+156227T>A) | |
2 | g.108929273T>C | CA348115691 | EDAR,RANBP2 | c.281A>G (p.Glu94Gly) c.332A>G (p.Glu111Gly) c.425A>G (p.Glu142Gly) c.8370+156227T>C (n.8370+156227T>C) | |
2 | g.108929273T>G | CA348115692 | EDAR,RANBP2 | c.281A>C (p.Glu94Ala) c.332A>C (p.Glu111Ala) c.425A>C (p.Glu142Ala) c.8370+156227T>G (n.8370+156227T>G) | |
2 | g.108929274C>A | CA348115693 | EDAR,RANBP2 | c.280G>T (p.Glu94Ter) c.331G>T (p.Glu111Ter) c.424G>T (p.Glu142Ter) c.8370+156228C>A (n.8370+156228C>A) | |
2 | g.108929274C>G | CA348115694 | EDAR,RANBP2 | c.280G>C (p.Glu94Gln) c.331G>C (p.Glu111Gln) c.424G>C (p.Glu142Gln) c.8370+156228C>G (n.8370+156228C>G) | |
2 | g.108929274C>T | CA348115695 | EDAR,RANBP2 | c.280G>A (p.Glu94Lys) c.331G>A (p.Glu111Lys) c.424G>A (p.Glu142Lys) c.8370+156228C>T (n.8370+156228C>T) | |
2 | g.108929275A= | CA1278368548 | EDAR,RANBP2 | c.279T= (p.Cys93=) c.330T= (p.Cys110=) c.423T= (p.Cys141=) c.8370+156229A= (n.8370+156229A=) | |
2 | g.108929275A>C | CA1825139 | EDAR,RANBP2 | c.279T>G (p.Cys93Trp) c.330T>G (p.Cys110Trp) c.423T>G (p.Cys141Trp) c.8370+156229A>C (n.8370+156229A>C) | dbSNP ExAC gnomAD v4 |
2 | g.108929275A>G | CA428086843 | EDAR,RANBP2 | c.279T>C (p.Cys93=) c.330T>C (p.Cys110=) c.423T>C (p.Cys141=) c.8370+156229A>G (n.8370+156229A>G) | gnomAD v4 |
2 | g.108929275A>T | CA348115696 | EDAR,RANBP2 | c.279T>A (p.Cys93Ter) c.330T>A (p.Cys110Ter) c.423T>A (p.Cys141Ter) c.8370+156229A>T (n.8370+156229A>T) | |
2 | g.108929276C>A | CA348115697 | EDAR,RANBP2 | c.278G>T (p.Cys93Phe) c.329G>T (p.Cys110Phe) c.422G>T (p.Cys141Phe) c.8370+156230C>A (n.8370+156230C>A) | |
2 | g.108929276C= | CA1278368549 | EDAR,RANBP2 | c.278G= (p.Cys93=) c.329G= (p.Cys110=) c.422G= (p.Cys141=) c.8370+156230C= (n.8370+156230C=) | |
2 | g.108929276C>G | CA348115698 | EDAR,RANBP2 | c.278G>C (p.Cys93Ser) c.329G>C (p.Cys110Ser) c.422G>C (p.Cys141Ser) c.8370+156230C>G (n.8370+156230C>G) | ClinVar dbSNP |
2 | g.108929276C>T | CA348115699 | EDAR,RANBP2 | c.278G>A (p.Cys93Tyr) c.329G>A (p.Cys110Tyr) c.422G>A (p.Cys141Tyr) c.8370+156230C>T (n.8370+156230C>T) | |
2 | g.108929277A= | CA1278368550 | EDAR,RANBP2 | c.277T= (p.Cys93=) c.328T= (p.Cys110=) c.421T= (p.Cys141=) c.8370+156231A= (n.8370+156231A=) | |
2 | g.108929277A>C | CA348115702 | EDAR,RANBP2 | c.277T>G (p.Cys93Gly) c.328T>G (p.Cys110Gly) c.421T>G (p.Cys141Gly) c.8370+156231A>C (n.8370+156231A>C) | |
2 | g.108929277A>G | CA348115701 | EDAR,RANBP2 | c.277T>C (p.Cys93Arg) c.328T>C (p.Cys110Arg) c.421T>C (p.Cys141Arg) c.8370+156231A>G (n.8370+156231A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929277A>T | CA348115700 | EDAR,RANBP2 | c.277T>A (p.Cys93Ser) c.328T>A (p.Cys110Ser) c.421T>A (p.Cys141Ser) c.8370+156231A>T (n.8370+156231A>T) | |
2 | g.108929278G>A | CA428086844 | EDAR,RANBP2 | c.276C>T (p.Asp92=) c.327C>T (p.Asp109=) c.420C>T (p.Asp140=) c.8370+156232G>A (n.8370+156232G>A) | |
2 | g.108929278G>C | CA348115703 | EDAR,RANBP2 | c.276C>G (p.Asp92Glu) c.327C>G (p.Asp109Glu) c.420C>G (p.Asp140Glu) c.8370+156232G>C (n.8370+156232G>C) | |
2 | g.108929278G>T | CA348115704 | EDAR,RANBP2 | c.276C>A (p.Asp92Glu) c.327C>A (p.Asp109Glu) c.420C>A (p.Asp140Glu) c.8370+156232G>T (n.8370+156232G>T) | |
2 | g.108929278_108929279insGCG | CA2586969752 | EDAR,RANBP2 | c.276_277insGCC (p.Asp92_Cys93insAla) c.327_328insGCC (p.Asp109_Cys110insAla) c.420_421insGCC (p.Asp140_Cys141insAla) c.8370+156232_8370+156233insGCG (n.8370+156232_8370+156233insGCG) | |
2 | g.108929279T>A | CA348115705 | EDAR,RANBP2 | c.275A>T (p.Asp92Val) c.326A>T (p.Asp109Val) c.419A>T (p.Asp140Val) c.8370+156233T>A (n.8370+156233T>A) | |
2 | g.108929279T>C | CA1825140 | EDAR,RANBP2 | c.275A>G (p.Asp92Gly) c.326A>G (p.Asp109Gly) c.419A>G (p.Asp140Gly) c.8370+156233T>C (n.8370+156233T>C) | ClinVar dbSNP ExAC |
2 | g.108929279T>G | CA348115706 | EDAR,RANBP2 | c.275A>C (p.Asp92Ala) c.326A>C (p.Asp109Ala) c.419A>C (p.Asp140Ala) c.8370+156233T>G (n.8370+156233T>G) | |
2 | g.108929279T= | CA1278368551 | EDAR,RANBP2 | c.275A= (p.Asp92=) c.326A= (p.Asp109=) c.419A= (p.Asp140=) c.8370+156233T= (n.8370+156233T=) | |
2 | g.108929280C>A | CA348115707 | EDAR,RANBP2 | c.274G>T (p.Asp92Tyr) c.325G>T (p.Asp109Tyr) c.418G>T (p.Asp140Tyr) c.8370+156234C>A (n.8370+156234C>A) | |
2 | g.108929280C>G | CA348115708 | EDAR,RANBP2 | c.274G>C (p.Asp92His) c.325G>C (p.Asp109His) c.418G>C (p.Asp140His) c.8370+156234C>G (n.8370+156234C>G) | |
2 | g.108929280C>T | CA348115709 | EDAR,RANBP2 | c.274G>A (p.Asp92Asn) c.325G>A (p.Asp109Asn) c.418G>A (p.Asp140Asn) c.8370+156234C>T (n.8370+156234C>T) | |
2 | g.108929281T>A | CA348115710 | EDAR,RANBP2 | c.273A>T (p.Lys91Asn) c.324A>T (p.Lys108Asn) c.417A>T (p.Lys139Asn) c.8370+156235T>A (n.8370+156235T>A) | |
2 | g.108929281T>C | CA428086845 | EDAR,RANBP2 | c.273A>G (p.Lys91=) c.324A>G (p.Lys108=) c.417A>G (p.Lys139=) c.8370+156235T>C (n.8370+156235T>C) | dbSNP |
2 | g.108929281T>G | CA348115711 | EDAR,RANBP2 | c.273A>C (p.Lys91Asn) c.324A>C (p.Lys108Asn) c.417A>C (p.Lys139Asn) c.8370+156235T>G (n.8370+156235T>G) | |
2 | g.108929281T= | CA1278368552 | EDAR,RANBP2 | c.273A= (p.Lys91=) c.324A= (p.Lys108=) c.417A= (p.Lys139=) c.8370+156235T= (n.8370+156235T=) | |
2 | g.108929282_108929283del | CA2660611276 | EDAR,RANBP2 | c.272_273del (p.Lys91ArgfsTer3) c.323_324del (p.Lys108ArgfsTer3) c.416_417del (p.Lys139ArgfsTer3) c.8370+156236_8370+156237del (n.8370+156236_8370+156237del) | gnomAD v4 |
2 | g.108929282T>A | CA348115712 | EDAR,RANBP2 | c.272A>T (p.Lys91Ile) c.323A>T (p.Lys108Ile) c.416A>T (p.Lys139Ile) c.8370+156236T>A (n.8370+156236T>A) | |
2 | g.108929282T>C | CA348115713 | EDAR,RANBP2 | c.272A>G (p.Lys91Arg) c.323A>G (p.Lys108Arg) c.416A>G (p.Lys139Arg) c.8370+156236T>C (n.8370+156236T>C) | gnomAD v4 |
2 | g.108929282T>G | CA348115714 | EDAR,RANBP2 | c.272A>C (p.Lys91Thr) c.323A>C (p.Lys108Thr) c.416A>C (p.Lys139Thr) c.8370+156236T>G (n.8370+156236T>G) | |
2 | g.108929283T>A | CA348115716 | EDAR,RANBP2 | c.271A>T (p.Lys91Ter) c.322A>T (p.Lys108Ter) c.415A>T (p.Lys139Ter) c.8370+156237T>A (n.8370+156237T>A) | |
2 | g.108929283T>C | CA348115717 | EDAR,RANBP2 | c.271A>G (p.Lys91Glu) c.322A>G (p.Lys108Glu) c.415A>G (p.Lys139Glu) c.8370+156237T>C (n.8370+156237T>C) | |
2 | g.108929283T>G | CA348115715 | EDAR,RANBP2 | c.271A>C (p.Lys91Gln) c.322A>C (p.Lys108Gln) c.415A>C (p.Lys139Gln) c.8370+156237T>G (n.8370+156237T>G) | |
2 | g.108929284G>A | CA428086846 | EDAR,RANBP2 | c.270C>T (p.His90=) c.321C>T (p.His107=) c.414C>T (p.His138=) c.8370+156238G>A (n.8370+156238G>A) | |
2 | g.108929284G>C | CA348115718 | EDAR,RANBP2 | c.270C>G (p.His90Gln) c.321C>G (p.His107Gln) c.414C>G (p.His138Gln) c.8370+156238G>C (n.8370+156238G>C) | |
2 | g.108929284G>T | CA348115719 | EDAR,RANBP2 | c.270C>A (p.His90Gln) c.321C>A (p.His107Gln) c.414C>A (p.His138Gln) c.8370+156238G>T (n.8370+156238G>T) | |
2 | g.108929285T>A | CA348115720 | EDAR,RANBP2 | c.269A>T (p.His90Leu) c.320A>T (p.His107Leu) c.413A>T (p.His138Leu) c.8370+156239T>A (n.8370+156239T>A) | |
2 | g.108929285T>C | CA348115721 | EDAR,RANBP2 | c.269A>G (p.His90Arg) c.320A>G (p.His107Arg) c.413A>G (p.His138Arg) c.8370+156239T>C (n.8370+156239T>C) | |
2 | g.108929285T>G | CA348115722 | EDAR,RANBP2 | c.269A>C (p.His90Pro) c.320A>C (p.His107Pro) c.413A>C (p.His138Pro) c.8370+156239T>G (n.8370+156239T>G) | |
2 | g.108929286G>A | CA348115723 | EDAR,RANBP2 | c.268C>T (p.His90Tyr) c.319C>T (p.His107Tyr) c.412C>T (p.His138Tyr) c.8370+156240G>A (n.8370+156240G>A) | |
2 | g.108929286G>C | CA348115724 | EDAR,RANBP2 | c.268C>G (p.His90Asp) c.319C>G (p.His107Asp) c.412C>G (p.His138Asp) c.8370+156240G>C (n.8370+156240G>C) | |
2 | g.108929286G>T | CA348115725 | EDAR,RANBP2 | c.268C>A (p.His90Asn) c.319C>A (p.His107Asn) c.412C>A (p.His138Asn) c.8370+156240G>T (n.8370+156240G>T) | |
2 | g.108929287A= | CA1278368553 | EDAR,RANBP2 | c.267T= (p.Arg89=) c.318T= (p.Arg106=) c.411T= (p.Arg137=) c.8370+156241A= (n.8370+156241A=) | |
2 | g.108929287A>C | CA428086847 | EDAR,RANBP2 | c.267T>G (p.Arg89=) c.318T>G (p.Arg106=) c.411T>G (p.Arg137=) c.8370+156241A>C (n.8370+156241A>C) | |
2 | g.108929287A>G | CA428086848 | EDAR,RANBP2 | c.267T>C (p.Arg89=) c.318T>C (p.Arg106=) c.411T>C (p.Arg137=) c.8370+156241A>G (n.8370+156241A>G) | |
2 | g.108929287A>T | CA428086849 | EDAR,RANBP2 | c.267T>A (p.Arg89=) c.318T>A (p.Arg106=) c.411T>A (p.Arg137=) c.8370+156241A>T (n.8370+156241A>T) | dbSNP gnomAD v4 |
2 | g.108929288C>A | CA348115726 | EDAR,RANBP2 | c.266G>T (p.Arg89Leu) c.317G>T (p.Arg106Leu) c.410G>T (p.Arg137Leu) c.8370+156242C>A (n.8370+156242C>A) | gnomAD v4 |
2 | g.108929288C= | CA1278368554 | EDAR,RANBP2 | c.266G= (p.Arg89=) c.317G= (p.Arg106=) c.410G= (p.Arg137=) c.8370+156242C= (n.8370+156242C=) | |
2 | g.108929288C>G | CA348115727 | EDAR,RANBP2 | c.266G>C (p.Arg89Pro) c.317G>C (p.Arg106Pro) c.410G>C (p.Arg137Pro) c.8370+156242C>G (n.8370+156242C>G) | |
2 | g.108929288C>T | CA130257 | EDAR,RANBP2 | c.266G>A (p.Arg89His) c.317G>A (p.Arg106His) c.410G>A (p.Arg137His) c.8370+156242C>T (n.8370+156242C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929289G>A | CA1825141 | EDAR,RANBP2 | c.265C>T (p.Arg89Cys) c.316C>T (p.Arg106Cys) c.409C>T (p.Arg137Cys) c.8370+156243G>A (n.8370+156243G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.108929289G>C | CA348115728 | EDAR,RANBP2 | c.265C>G (p.Arg89Gly) c.316C>G (p.Arg106Gly) c.409C>G (p.Arg137Gly) c.8370+156243G>C (n.8370+156243G>C) | |
2 | g.108929289G= | CA1278368555 | EDAR,RANBP2 | c.265C= (p.Arg89=) c.316C= (p.Arg106=) c.409C= (p.Arg137=) c.8370+156243G= (n.8370+156243G=) | |
2 | g.108929289G>T | CA54012146 | EDAR,RANBP2 | c.265C>A (p.Arg89Ser) c.316C>A (p.Arg106Ser) c.409C>A (p.Arg137Ser) c.8370+156243G>T (n.8370+156243G>T) | dbSNP gnomAD v4 |
2 | g.108929290C>A | CA348115730 | EDAR,RANBP2 | c.264G>T (p.Arg88Ser) c.315G>T (p.Arg105Ser) c.408G>T (p.Arg136Ser) c.8370+156244C>A (n.8370+156244C>A) | |
2 | g.108929290C>G | CA348115729 | EDAR,RANBP2 | c.264G>C (p.Arg88Ser) c.315G>C (p.Arg105Ser) c.408G>C (p.Arg136Ser) c.8370+156244C>G (n.8370+156244C>G) | |
2 | g.108929290C>T | CA428086850 | EDAR,RANBP2 | c.264G>A (p.Arg88=) c.315G>A (p.Arg105=) c.408G>A (p.Arg136=) c.8370+156244C>T (n.8370+156244C>T) | |
2 | g.108929291C>A | CA348115731 | EDAR,RANBP2 | c.263G>T (p.Arg88Met) c.314G>T (p.Arg105Met) c.407G>T (p.Arg136Met) c.8370+156245C>A (n.8370+156245C>A) | |
2 | g.108929291C>G | CA348115732 | EDAR,RANBP2 | c.263G>C (p.Arg88Thr) c.314G>C (p.Arg105Thr) c.407G>C (p.Arg136Thr) c.8370+156245C>G (n.8370+156245C>G) | |
2 | g.108929291C>T | CA348115733 | EDAR,RANBP2 | c.263G>A (p.Arg88Lys) c.314G>A (p.Arg105Lys) c.407G>A (p.Arg136Lys) c.8370+156245C>T (n.8370+156245C>T) | |
2 | g.108929292T>A | CA348115734 | EDAR,RANBP2 | c.262A>T (p.Arg88Trp) c.313A>T (p.Arg105Trp) c.406A>T (p.Arg136Trp) c.8370+156246T>A (n.8370+156246T>A) | |
2 | g.108929292T>C | CA348115735 | EDAR,RANBP2 | c.262A>G (p.Arg88Gly) c.313A>G (p.Arg105Gly) c.406A>G (p.Arg136Gly) c.8370+156246T>C (n.8370+156246T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929292T>G | CA428086851 | EDAR,RANBP2 | c.262A>C (p.Arg88=) c.313A>C (p.Arg105=) c.406A>C (p.Arg136=) c.8370+156246T>G (n.8370+156246T>G) | |
2 | g.108929292T= | CA1278368556 | EDAR,RANBP2 | c.262A= (p.Arg88=) c.313A= (p.Arg105=) c.406A= (p.Arg136=) c.8370+156246T= (n.8370+156246T=) | |
2 | g.108929293G>A | CA428086852 | EDAR,RANBP2 | c.261C>T (p.Cys87=) c.312C>T (p.Cys104=) c.405C>T (p.Cys135=) c.8370+156247G>A (n.8370+156247G>A) | |
2 | g.108929293G>C | CA348115736 | EDAR,RANBP2 | c.261C>G (p.Cys87Trp) c.312C>G (p.Cys104Trp) c.405C>G (p.Cys135Trp) c.8370+156247G>C (n.8370+156247G>C) | |
2 | g.108929293G>T | CA348115737 | EDAR,RANBP2 | c.261C>A (p.Cys87Ter) c.312C>A (p.Cys104Ter) c.405C>A (p.Cys135Ter) c.8370+156247G>T (n.8370+156247G>T) | |
2 | g.108929294C>A | CA348115738 | EDAR,RANBP2 | c.260G>T (p.Cys87Phe) c.311G>T (p.Cys104Phe) c.404G>T (p.Cys135Phe) c.8370+156248C>A (n.8370+156248C>A) | |
2 | g.108929294C>G | CA348115740 | EDAR,RANBP2 | c.260G>C (p.Cys87Ser) c.311G>C (p.Cys104Ser) c.404G>C (p.Cys135Ser) c.8370+156248C>G (n.8370+156248C>G) | |
2 | g.108929294C>T | CA348115739 | EDAR,RANBP2 | c.260G>A (p.Cys87Tyr) c.311G>A (p.Cys104Tyr) c.404G>A (p.Cys135Tyr) c.8370+156248C>T (n.8370+156248C>T) | |
2 | g.108929295A= | CA1278368557 | EDAR,RANBP2 | c.259T= (p.Cys87=) c.310T= (p.Cys104=) c.403T= (p.Cys135=) c.8370+156249A= (n.8370+156249A=) | |
2 | g.108929295A>C | CA348115741 | EDAR,RANBP2 | c.259T>G (p.Cys87Gly) c.310T>G (p.Cys104Gly) c.403T>G (p.Cys135Gly) c.8370+156249A>C (n.8370+156249A>C) | ClinVar |
2 | g.108929295A>G | CA253629 | EDAR,RANBP2 | c.259T>C (p.Cys87Arg) c.310T>C (p.Cys104Arg) c.403T>C (p.Cys135Arg) c.8370+156249A>G (n.8370+156249A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929295A>T | CA348115742 | EDAR,RANBP2 | c.259T>A (p.Cys87Ser) c.310T>A (p.Cys104Ser) c.403T>A (p.Cys135Ser) c.8370+156249A>T (n.8370+156249A>T) | |
2 | g.108929296T>A | CA428086853 | EDAR,RANBP2 | c.258A>T (p.Ile86=) c.309A>T (p.Ile103=) c.402A>T (p.Ile134=) c.8370+156250T>A (n.8370+156250T>A) | |
2 | g.108929296T>C | CA348115743 | EDAR,RANBP2 | c.258A>G (p.Ile86Met) c.309A>G (p.Ile103Met) c.402A>G (p.Ile134Met) c.8370+156250T>C (n.8370+156250T>C) | |
2 | g.108929296T>G | CA428086854 | EDAR,RANBP2 | c.258A>C (p.Ile86=) c.309A>C (p.Ile103=) c.402A>C (p.Ile134=) c.8370+156250T>G (n.8370+156250T>G) | |
2 | g.108929297A>C | CA348115744 | EDAR,RANBP2 | c.257T>G (p.Ile86Arg) c.308T>G (p.Ile103Arg) c.401T>G (p.Ile134Arg) c.8370+156251A>C (n.8370+156251A>C) | |
2 | g.108929297A>G | CA348115746 | EDAR,RANBP2 | c.257T>C (p.Ile86Thr) c.308T>C (p.Ile103Thr) c.401T>C (p.Ile134Thr) c.8370+156251A>G (n.8370+156251A>G) | |
2 | g.108929297A>T | CA348115745 | EDAR,RANBP2 | c.257T>A (p.Ile86Lys) c.308T>A (p.Ile103Lys) c.401T>A (p.Ile134Lys) c.8370+156251A>T (n.8370+156251A>T) | |
2 | g.108929298T>A | CA348115747 | EDAR,RANBP2 | c.256A>T (p.Ile86Leu) c.307A>T (p.Ile103Leu) c.400A>T (p.Ile134Leu) c.8370+156252T>A (n.8370+156252T>A) | |
2 | g.108929298T>C | CA348115748 | EDAR,RANBP2 | c.256A>G (p.Ile86Val) c.307A>G (p.Ile103Val) c.400A>G (p.Ile134Val) c.8370+156252T>C (n.8370+156252T>C) | |
2 | g.108929298T>G | CA348115749 | EDAR,RANBP2 | c.256A>C (p.Ile86Leu) c.307A>C (p.Ile103Leu) c.400A>C (p.Ile134Leu) c.8370+156252T>G (n.8370+156252T>G) | gnomAD v4 |
2 | g.108929299C>A | CA348115750 | EDAR,RANBP2 | c.255G>T (p.Gln85His) c.306G>T (p.Gln102His) c.399G>T (p.Gln133His) c.8370+156253C>A (n.8370+156253C>A) | gnomAD v4 |
2 | g.108929299C>G | CA348115751 | EDAR,RANBP2 | c.255G>C (p.Gln85His) c.306G>C (p.Gln102His) c.399G>C (p.Gln133His) c.8370+156253C>G (n.8370+156253C>G) | |
2 | g.108929299C>T | CA428086855 | EDAR,RANBP2 | c.255G>A (p.Gln85=) c.306G>A (p.Gln102=) c.399G>A (p.Gln133=) c.8370+156253C>T (n.8370+156253C>T) | |
2 | g.108929300T>A | CA348115752 | EDAR,RANBP2 | c.254A>T (p.Gln85Leu) c.305A>T (p.Gln102Leu) c.398A>T (p.Gln133Leu) c.8370+156254T>A (n.8370+156254T>A) | |
2 | g.108929300T>C | CA348115753 | EDAR,RANBP2 | c.254A>G (p.Gln85Arg) c.305A>G (p.Gln102Arg) c.398A>G (p.Gln133Arg) c.8370+156254T>C (n.8370+156254T>C) | |
2 | g.108929300T>G | CA348115754 | EDAR,RANBP2 | c.254A>C (p.Gln85Pro) c.305A>C (p.Gln102Pro) c.398A>C (p.Gln133Pro) c.8370+156254T>G (n.8370+156254T>G) | |
2 | g.108929301G>A | CA348115755 | EDAR,RANBP2 | c.253C>T (p.Gln85Ter) c.304C>T (p.Gln102Ter) c.397C>T (p.Gln133Ter) c.8370+156255G>A (n.8370+156255G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929301G>C | CA348115756 | EDAR,RANBP2 | c.253C>G (p.Gln85Glu) c.304C>G (p.Gln102Glu) c.397C>G (p.Gln133Glu) c.8370+156255G>C (n.8370+156255G>C) | |
2 | g.108929301G= | CA1278368558 | EDAR,RANBP2 | c.253C= (p.Gln85=) c.304C= (p.Gln102=) c.397C= (p.Gln133=) c.8370+156255G= (n.8370+156255G=) | |
2 | g.108929301G>T | CA348115757 | EDAR,RANBP2 | c.253C>A (p.Gln85Lys) c.304C>A (p.Gln102Lys) c.397C>A (p.Gln133Lys) c.8370+156255G>T (n.8370+156255G>T) | |
2 | g.108929302G>A | CA428086856 | EDAR,RANBP2 | c.252C>T (p.Tyr84=) c.303C>T (p.Tyr101=) c.396C>T (p.Tyr132=) c.8370+156256G>A (n.8370+156256G>A) | |
2 | g.108929302G>C | CA348115758 | EDAR,RANBP2 | c.252C>G (p.Tyr84Ter) c.303C>G (p.Tyr101Ter) c.396C>G (p.Tyr132Ter) c.8370+156256G>C (n.8370+156256G>C) | |
2 | g.108929302G>T | CA348115759 | EDAR,RANBP2 | c.252C>A (p.Tyr84Ter) c.303C>A (p.Tyr101Ter) c.396C>A (p.Tyr132Ter) c.8370+156256G>T (n.8370+156256G>T) | |
2 | g.108929303T>A | CA348115762 | EDAR,RANBP2 | c.251A>T (p.Tyr84Phe) c.302A>T (p.Tyr101Phe) c.395A>T (p.Tyr132Phe) c.8370+156257T>A (n.8370+156257T>A) | |
2 | g.108929303T>C | CA348115760 | EDAR,RANBP2 | c.251A>G (p.Tyr84Cys) c.302A>G (p.Tyr101Cys) c.395A>G (p.Tyr132Cys) c.8370+156257T>C (n.8370+156257T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108929303T>G | CA348115761 | EDAR,RANBP2 | c.251A>C (p.Tyr84Ser) c.302A>C (p.Tyr101Ser) c.395A>C (p.Tyr132Ser) c.8370+156257T>G (n.8370+156257T>G) | |
2 | g.108929303T= | CA1278368559 | EDAR,RANBP2 | c.251A= (p.Tyr84=) c.302A= (p.Tyr101=) c.395A= (p.Tyr132=) c.8370+156257T= (n.8370+156257T=) | |
2 | g.108929304A>C | CA348115763 | EDAR,RANBP2 | c.250T>G (p.Tyr84Asp) c.301T>G (p.Tyr101Asp) c.394T>G (p.Tyr132Asp) c.8370+156258A>C (n.8370+156258A>C) | |
2 | g.108929304A>G | CA348115764 | EDAR,RANBP2 | c.250T>C (p.Tyr84His) c.301T>C (p.Tyr101His) c.394T>C (p.Tyr132His) c.8370+156258A>G (n.8370+156258A>G) | |
2 | g.108929304A>T | CA348115765 | EDAR,RANBP2 | c.250T>A (p.Tyr84Asn) c.301T>A (p.Tyr101Asn) c.394T>A (p.Tyr132Asn) c.8370+156258A>T (n.8370+156258A>T) | |
2 | g.108929305G>A | CA428086857 | EDAR,RANBP2 | c.249C>T (p.Gly83=) c.300C>T (p.Gly100=) c.393C>T (p.Gly131=) c.8370+156259G>A (n.8370+156259G>A) | |
2 | g.108929305G>C | CA428086859 | EDAR,RANBP2 | c.249C>G (p.Gly83=) c.300C>G (p.Gly100=) c.393C>G (p.Gly131=) c.8370+156259G>C (n.8370+156259G>C) | |
2 | g.108929305G>T | CA428086858 | EDAR,RANBP2 | c.249C>A (p.Gly83=) c.300C>A (p.Gly100=) c.393C>A (p.Gly131=) c.8370+156259G>T (n.8370+156259G>T) | |
2 | g.108929306C>A | CA348115766 | EDAR,RANBP2 | c.248G>T (p.Gly83Val) c.299G>T (p.Gly100Val) c.392G>T (p.Gly131Val) c.8370+156260C>A (n.8370+156260C>A) | |
2 | g.108929306C= | CA1278368560 | EDAR,RANBP2 | c.248G= (p.Gly83=) c.299G= (p.Gly100=) c.392G= (p.Gly131=) c.8370+156260C= (n.8370+156260C=) | |
2 | g.108929306C>G | CA348115767 | EDAR,RANBP2 | c.248G>C (p.Gly83Ala) c.299G>C (p.Gly100Ala) c.392G>C (p.Gly131Ala) c.8370+156260C>G (n.8370+156260C>G) | |
2 | g.108929306C>T | CA54012147 | EDAR,RANBP2 | c.248G>A (p.Gly83Asp) c.299G>A (p.Gly100Asp) c.392G>A (p.Gly131Asp) c.8370+156260C>T (n.8370+156260C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929307C>A | CA348115768 | EDAR,RANBP2 | c.247G>T (p.Gly83Cys) c.298G>T (p.Gly100Cys) c.391G>T (p.Gly131Cys) c.8370+156261C>A (n.8370+156261C>A) | dbSNP |
2 | g.108929307C= | CA1278368561 | EDAR,RANBP2 | c.247G= (p.Gly83=) c.298G= (p.Gly100=) c.391G= (p.Gly131=) c.8370+156261C= (n.8370+156261C=) | |
2 | g.108929307C>G | CA348115769 | EDAR,RANBP2 | c.247G>C (p.Gly83Arg) c.298G>C (p.Gly100Arg) c.391G>C (p.Gly131Arg) c.8370+156261C>G (n.8370+156261C>G) | |
2 | g.108929307C>T | CA348115770 | EDAR,RANBP2 | c.247G>A (p.Gly83Ser) c.298G>A (p.Gly100Ser) c.391G>A (p.Gly131Ser) c.8370+156261C>T (n.8370+156261C>T) | dbSNP |
2 | g.108929308T>A | CA428086860 | EDAR,RANBP2 | c.246A>T (p.Gly82=) c.297A>T (p.Gly99=) c.390A>T (p.Gly130=) c.8370+156262T>A (n.8370+156262T>A) | |
2 | g.108929308T>C | CA428086861 | EDAR,RANBP2 | c.246A>G (p.Gly82=) c.297A>G (p.Gly99=) c.390A>G (p.Gly130=) c.8370+156262T>C (n.8370+156262T>C) | |
2 | g.108929308T>G | CA428086862 | EDAR,RANBP2 | c.246A>C (p.Gly82=) c.297A>C (p.Gly99=) c.390A>C (p.Gly130=) c.8370+156262T>G (n.8370+156262T>G) | |
2 | g.108929309C>A | CA348115771 | EDAR,RANBP2 | c.245G>T (p.Gly82Val) c.296G>T (p.Gly99Val) c.389G>T (p.Gly130Val) c.8370+156263C>A (n.8370+156263C>A) | |
2 | g.108929309C>G | CA348115772 | EDAR,RANBP2 | c.245G>C (p.Gly82Ala) c.296G>C (p.Gly99Ala) c.389G>C (p.Gly130Ala) c.8370+156263C>G (n.8370+156263C>G) | |
2 | g.108929309C>T | CA348115773 | EDAR,RANBP2 | c.245G>A (p.Gly82Glu) c.296G>A (p.Gly99Glu) c.389G>A (p.Gly130Glu) c.8370+156263C>T (n.8370+156263C>T) | |
2 | g.108929310C>A | CA348115775 | EDAR,RANBP2 | c.244G>T (p.Gly82Ter) c.295G>T (p.Gly99Ter) c.388G>T (p.Gly130Ter) c.8370+156264C>A (n.8370+156264C>A) | COSMIC COSMIC |
2 | g.108929310C>G | CA348115776 | EDAR,RANBP2 | c.244G>C (p.Gly82Arg) c.295G>C (p.Gly99Arg) c.388G>C (p.Gly130Arg) c.8370+156264C>G (n.8370+156264C>G) | |
2 | g.108929310C>T | CA348115774 | EDAR,RANBP2 | c.244G>A (p.Gly82Arg) c.295G>A (p.Gly99Arg) c.388G>A (p.Gly130Arg) c.8370+156264C>T (n.8370+156264C>T) | |
2 | g.108929311T>A | CA348115777 | EDAR,RANBP2 | c.243A>T (p.Lys81Asn) c.294A>T (p.Lys98Asn) c.387A>T (p.Lys129Asn) c.8370+156265T>A (n.8370+156265T>A) | dbSNP gnomAD v4 |
2 | g.108929311T>C | CA1825142 | EDAR,RANBP2 | c.243A>G (p.Lys81=) c.294A>G (p.Lys98=) c.387A>G (p.Lys129=) c.8370+156265T>C (n.8370+156265T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929311T>G | CA348115778 | EDAR,RANBP2 | c.243A>C (p.Lys81Asn) c.294A>C (p.Lys98Asn) c.387A>C (p.Lys129Asn) c.8370+156265T>G (n.8370+156265T>G) | |
2 | g.108929311T= | CA1278368562 | EDAR,RANBP2 | c.243A= (p.Lys81=) c.294A= (p.Lys98=) c.387A= (p.Lys129=) c.8370+156265T= (n.8370+156265T=) | |
2 | g.108929312T>A | CA348115779 | EDAR,RANBP2 | c.242A>T (p.Lys81Ile) c.293A>T (p.Lys98Ile) c.386A>T (p.Lys129Ile) c.8370+156266T>A (n.8370+156266T>A) | |
2 | g.108929312T>C | CA54012148 | EDAR,RANBP2 | c.242A>G (p.Lys81Arg) c.293A>G (p.Lys98Arg) c.386A>G (p.Lys129Arg) c.8370+156266T>C (n.8370+156266T>C) | dbSNP |
2 | g.108929312T>G | CA348115780 | EDAR,RANBP2 | c.242A>C (p.Lys81Thr) c.293A>C (p.Lys98Thr) c.386A>C (p.Lys129Thr) c.8370+156266T>G (n.8370+156266T>G) | |
2 | g.108929312T= | CA1278368563 | EDAR,RANBP2 | c.242A= (p.Lys81=) c.293A= (p.Lys98=) c.386A= (p.Lys129=) c.8370+156266T= (n.8370+156266T=) |