Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108929199_108929380delCA2586969751EDAR,RANBP2c.175_356del
c.226_407del
c.319_500del
c.8370+156153_8370+156334del (n.8370+156153_8370+156334del)
2g.108929261C>ACA348115665EDAR,RANBP2c.293G>T (p.Arg98Leu)
c.344G>T (p.Arg115Leu)
c.437G>T (p.Arg146Leu)
c.8370+156215C>A (n.8370+156215C>A)
2g.108929261C=CA1278368541EDAR,RANBP2c.293G= (p.Arg98=)
c.344G= (p.Arg115=)
c.437G= (p.Arg146=)
c.8370+156215C= (n.8370+156215C=)
2g.108929261C>GCA1825136EDAR,RANBP2c.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
2g.108929261C>TCA1825135EDAR,RANBP2c.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
2g.108929262G>ACA54012145EDAR,RANBP2c.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
2g.108929262G>CCA348115666EDAR,RANBP2c.292C>G (p.Arg98Gly)
c.343C>G (p.Arg115Gly)
c.436C>G (p.Arg146Gly)
c.8370+156216G>C (n.8370+156216G>C)
2g.108929262G=CA1278368542EDAR,RANBP2c.292C= (p.Arg98=)
c.343C= (p.Arg115=)
c.436C= (p.Arg146=)
c.8370+156216G= (n.8370+156216G=)
2g.108929262G>TCA1825137EDAR,RANBP2c.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
2g.108929263G>ACA428086837EDAR,RANBP2c.291C>T (p.Phe97=)
c.342C>T (p.Phe114=)
c.435C>T (p.Phe145=)
c.8370+156217G>A (n.8370+156217G>A)
2g.108929263G>CCA348115667EDAR,RANBP2c.291C>G (p.Phe97Leu)
c.342C>G (p.Phe114Leu)
c.435C>G (p.Phe145Leu)
c.8370+156217G>C (n.8370+156217G>C)
2g.108929263G>TCA348115668EDAR,RANBP2c.291C>A (p.Phe97Leu)
c.342C>A (p.Phe114Leu)
c.435C>A (p.Phe145Leu)
c.8370+156217G>T (n.8370+156217G>T)
2g.108929264A>CCA348115669EDAR,RANBP2c.290T>G (p.Phe97Cys)
c.341T>G (p.Phe114Cys)
c.434T>G (p.Phe145Cys)
c.8370+156218A>C (n.8370+156218A>C)
2g.108929264A>GCA348115670EDAR,RANBP2c.290T>C (p.Phe97Ser)
c.341T>C (p.Phe114Ser)
c.434T>C (p.Phe145Ser)
c.8370+156218A>G (n.8370+156218A>G)
2g.108929264A>TCA348115671EDAR,RANBP2c.290T>A (p.Phe97Tyr)
c.341T>A (p.Phe114Tyr)
c.434T>A (p.Phe145Tyr)
c.8370+156218A>T (n.8370+156218A>T)
2g.108929265A=CA1278368543EDAR,RANBP2c.289T= (p.Phe97=)
c.340T= (p.Phe114=)
c.433T= (p.Phe145=)
c.8370+156219A= (n.8370+156219A=)
2g.108929265A>CCA348115672EDAR,RANBP2c.289T>G (p.Phe97Val)
c.340T>G (p.Phe114Val)
c.433T>G (p.Phe145Val)
c.8370+156219A>C (n.8370+156219A>C)
2g.108929265A>GCA348115673EDAR,RANBP2c.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
2g.108929265A>TCA348115674EDAR,RANBP2c.289T>A (p.Phe97Ile)
c.340T>A (p.Phe114Ile)
c.433T>A (p.Phe145Ile)
c.8370+156219A>T (n.8370+156219A>T)
2g.108929266G>ACA428086838EDAR,RANBP2c.288C>T (p.Phe96=)
c.339C>T (p.Phe113=)
c.432C>T (p.Phe144=)
c.8370+156220G>A (n.8370+156220G>A)
 COSMIC COSMIC
2g.108929266G>CCA348115676EDAR,RANBP2c.288C>G (p.Phe96Leu)
c.339C>G (p.Phe113Leu)
c.432C>G (p.Phe144Leu)
c.8370+156220G>C (n.8370+156220G>C)
2g.108929266G>TCA348115675EDAR,RANBP2c.288C>A (p.Phe96Leu)
c.339C>A (p.Phe113Leu)
c.432C>A (p.Phe144Leu)
c.8370+156220G>T (n.8370+156220G>T)
2g.108929267A=CA1278368544EDAR,RANBP2c.287T= (p.Phe96=)
c.338T= (p.Phe113=)
c.431T= (p.Phe144=)
c.8370+156221A= (n.8370+156221A=)
2g.108929267A>CCA348115677EDAR,RANBP2c.287T>G (p.Phe96Cys)
c.338T>G (p.Phe113Cys)
c.431T>G (p.Phe144Cys)
c.8370+156221A>C (n.8370+156221A>C)
2g.108929267A>GCA348115678EDAR,RANBP2c.287T>C (p.Phe96Ser)
c.338T>C (p.Phe113Ser)
c.431T>C (p.Phe144Ser)
c.8370+156221A>G (n.8370+156221A>G)
 ClinVar dbSNP
2g.108929267A>TCA348115679EDAR,RANBP2c.287T>A (p.Phe96Tyr)
c.338T>A (p.Phe113Tyr)
c.431T>A (p.Phe144Tyr)
c.8370+156221A>T (n.8370+156221A>T)
2g.108929268A>CCA348115680EDAR,RANBP2c.286T>G (p.Phe96Val)
c.337T>G (p.Phe113Val)
c.430T>G (p.Phe144Val)
c.8370+156222A>C (n.8370+156222A>C)
2g.108929268A>GCA348115681EDAR,RANBP2c.286T>C (p.Phe96Leu)
c.337T>C (p.Phe113Leu)
c.430T>C (p.Phe144Leu)
c.8370+156222A>G (n.8370+156222A>G)
 gnomAD v4
2g.108929268A>TCA348115682EDAR,RANBP2c.286T>A (p.Phe96Ile)
c.337T>A (p.Phe113Ile)
c.430T>A (p.Phe144Ile)
c.8370+156222A>T (n.8370+156222A>T)
2g.108929269G>ACA428086839EDAR,RANBP2c.285C>T (p.Gly95=)
c.336C>T (p.Gly112=)
c.429C>T (p.Gly143=)
c.8370+156223G>A (n.8370+156223G>A)
2g.108929269G>CCA428086840EDAR,RANBP2c.285C>G (p.Gly95=)
c.336C>G (p.Gly112=)
c.429C>G (p.Gly143=)
c.8370+156223G>C (n.8370+156223G>C)
2g.108929269G>TCA428086841EDAR,RANBP2c.285C>A (p.Gly95=)
c.336C>A (p.Gly112=)
c.429C>A (p.Gly143=)
c.8370+156223G>T (n.8370+156223G>T)
2g.108929269_108929270delinsGCCA1278368545EDAR,RANBP2c.284_285delinsGC (p.Gly95=)
c.335_336delinsGC (p.Gly112=)
c.428_429delinsGC (p.Gly143=)
c.8370+156223_8370+156224delinsGC (n.8370+156223_8370+156224delinsGC)
2g.108929270C>ACA348115683EDAR,RANBP2c.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
2g.108929270C=CA1278368546EDAR,RANBP2c.284G= (p.Gly95=)
c.335G= (p.Gly112=)
c.428G= (p.Gly143=)
c.8370+156224C= (n.8370+156224C=)
2g.108929270C>GCA348115684EDAR,RANBP2c.284G>C (p.Gly95Ala)
c.335G>C (p.Gly112Ala)
c.428G>C (p.Gly143Ala)
c.8370+156224C>G (n.8370+156224C>G)
2g.108929270C>TCA348115685EDAR,RANBP2c.284G>A (p.Gly95Asp)
c.335G>A (p.Gly112Asp)
c.428G>A (p.Gly143Asp)
c.8370+156224C>T (n.8370+156224C>T)
 gnomAD v4
2g.108929272delCA16616897EDAR,RANBP2c.284del (p.Gly95AlafsTer8)
c.335del (p.Gly112AlafsTer8)
c.428del (p.Gly143AlafsTer8)
c.8370+156226del (n.8370+156226del)
 ClinVar dbSNP
2g.108929271C>ACA348115686EDAR,RANBP2c.283G>T (p.Gly95Cys)
c.334G>T (p.Gly112Cys)
c.427G>T (p.Gly143Cys)
c.8370+156225C>A (n.8370+156225C>A)
2g.108929271C=CA1278368547EDAR,RANBP2c.283G= (p.Gly95=)
c.334G= (p.Gly112=)
c.427G= (p.Gly143=)
c.8370+156225C= (n.8370+156225C=)
2g.108929271C>GCA348115687EDAR,RANBP2c.283G>C (p.Gly95Arg)
c.334G>C (p.Gly112Arg)
c.427G>C (p.Gly143Arg)
c.8370+156225C>G (n.8370+156225C>G)
 gnomAD v4
2g.108929271C>TCA1825138EDAR,RANBP2c.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
2g.108929272C>ACA348115688EDAR,RANBP2c.282G>T (p.Glu94Asp)
c.333G>T (p.Glu111Asp)
c.426G>T (p.Glu142Asp)
c.8370+156226C>A (n.8370+156226C>A)
2g.108929272C>GCA348115689EDAR,RANBP2c.282G>C (p.Glu94Asp)
c.333G>C (p.Glu111Asp)
c.426G>C (p.Glu142Asp)
c.8370+156226C>G (n.8370+156226C>G)
2g.108929272C>TCA428086842EDAR,RANBP2c.282G>A (p.Glu94=)
c.333G>A (p.Glu111=)
c.426G>A (p.Glu142=)
c.8370+156226C>T (n.8370+156226C>T)
 gnomAD v4
2g.108929273T>ACA348115690EDAR,RANBP2c.281A>T (p.Glu94Val)
c.332A>T (p.Glu111Val)
c.425A>T (p.Glu142Val)
c.8370+156227T>A (n.8370+156227T>A)
2g.108929273T>CCA348115691EDAR,RANBP2c.281A>G (p.Glu94Gly)
c.332A>G (p.Glu111Gly)
c.425A>G (p.Glu142Gly)
c.8370+156227T>C (n.8370+156227T>C)
2g.108929273T>GCA348115692EDAR,RANBP2c.281A>C (p.Glu94Ala)
c.332A>C (p.Glu111Ala)
c.425A>C (p.Glu142Ala)
c.8370+156227T>G (n.8370+156227T>G)
2g.108929274C>ACA348115693EDAR,RANBP2c.280G>T (p.Glu94Ter)
c.331G>T (p.Glu111Ter)
c.424G>T (p.Glu142Ter)
c.8370+156228C>A (n.8370+156228C>A)
2g.108929274C>GCA348115694EDAR,RANBP2c.280G>C (p.Glu94Gln)
c.331G>C (p.Glu111Gln)
c.424G>C (p.Glu142Gln)
c.8370+156228C>G (n.8370+156228C>G)
2g.108929274C>TCA348115695EDAR,RANBP2c.280G>A (p.Glu94Lys)
c.331G>A (p.Glu111Lys)
c.424G>A (p.Glu142Lys)
c.8370+156228C>T (n.8370+156228C>T)
2g.108929275A=CA1278368548EDAR,RANBP2c.279T= (p.Cys93=)
c.330T= (p.Cys110=)
c.423T= (p.Cys141=)
c.8370+156229A= (n.8370+156229A=)
2g.108929275A>CCA1825139EDAR,RANBP2c.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
2g.108929275A>GCA428086843EDAR,RANBP2c.279T>C (p.Cys93=)
c.330T>C (p.Cys110=)
c.423T>C (p.Cys141=)
c.8370+156229A>G (n.8370+156229A>G)
 gnomAD v4
2g.108929275A>TCA348115696EDAR,RANBP2c.279T>A (p.Cys93Ter)
c.330T>A (p.Cys110Ter)
c.423T>A (p.Cys141Ter)
c.8370+156229A>T (n.8370+156229A>T)
2g.108929276C>ACA348115697EDAR,RANBP2c.278G>T (p.Cys93Phe)
c.329G>T (p.Cys110Phe)
c.422G>T (p.Cys141Phe)
c.8370+156230C>A (n.8370+156230C>A)
2g.108929276C=CA1278368549EDAR,RANBP2c.278G= (p.Cys93=)
c.329G= (p.Cys110=)
c.422G= (p.Cys141=)
c.8370+156230C= (n.8370+156230C=)
2g.108929276C>GCA348115698EDAR,RANBP2c.278G>C (p.Cys93Ser)
c.329G>C (p.Cys110Ser)
c.422G>C (p.Cys141Ser)
c.8370+156230C>G (n.8370+156230C>G)
 ClinVar dbSNP
2g.108929276C>TCA348115699EDAR,RANBP2c.278G>A (p.Cys93Tyr)
c.329G>A (p.Cys110Tyr)
c.422G>A (p.Cys141Tyr)
c.8370+156230C>T (n.8370+156230C>T)
2g.108929277A=CA1278368550EDAR,RANBP2c.277T= (p.Cys93=)
c.328T= (p.Cys110=)
c.421T= (p.Cys141=)
c.8370+156231A= (n.8370+156231A=)
2g.108929277A>CCA348115702EDAR,RANBP2c.277T>G (p.Cys93Gly)
c.328T>G (p.Cys110Gly)
c.421T>G (p.Cys141Gly)
c.8370+156231A>C (n.8370+156231A>C)
2g.108929277A>GCA348115701EDAR,RANBP2c.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
2g.108929277A>TCA348115700EDAR,RANBP2c.277T>A (p.Cys93Ser)
c.328T>A (p.Cys110Ser)
c.421T>A (p.Cys141Ser)
c.8370+156231A>T (n.8370+156231A>T)
2g.108929278G>ACA428086844EDAR,RANBP2c.276C>T (p.Asp92=)
c.327C>T (p.Asp109=)
c.420C>T (p.Asp140=)
c.8370+156232G>A (n.8370+156232G>A)
2g.108929278G>CCA348115703EDAR,RANBP2c.276C>G (p.Asp92Glu)
c.327C>G (p.Asp109Glu)
c.420C>G (p.Asp140Glu)
c.8370+156232G>C (n.8370+156232G>C)
2g.108929278G>TCA348115704EDAR,RANBP2c.276C>A (p.Asp92Glu)
c.327C>A (p.Asp109Glu)
c.420C>A (p.Asp140Glu)
c.8370+156232G>T (n.8370+156232G>T)
2g.108929278_108929279insGCGCA2586969752EDAR,RANBP2c.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)
2g.108929279T>ACA348115705EDAR,RANBP2c.275A>T (p.Asp92Val)
c.326A>T (p.Asp109Val)
c.419A>T (p.Asp140Val)
c.8370+156233T>A (n.8370+156233T>A)
2g.108929279T>CCA1825140EDAR,RANBP2c.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
2g.108929279T>GCA348115706EDAR,RANBP2c.275A>C (p.Asp92Ala)
c.326A>C (p.Asp109Ala)
c.419A>C (p.Asp140Ala)
c.8370+156233T>G (n.8370+156233T>G)
2g.108929279T=CA1278368551EDAR,RANBP2c.275A= (p.Asp92=)
c.326A= (p.Asp109=)
c.419A= (p.Asp140=)
c.8370+156233T= (n.8370+156233T=)
2g.108929280C>ACA348115707EDAR,RANBP2c.274G>T (p.Asp92Tyr)
c.325G>T (p.Asp109Tyr)
c.418G>T (p.Asp140Tyr)
c.8370+156234C>A (n.8370+156234C>A)
2g.108929280C>GCA348115708EDAR,RANBP2c.274G>C (p.Asp92His)
c.325G>C (p.Asp109His)
c.418G>C (p.Asp140His)
c.8370+156234C>G (n.8370+156234C>G)
2g.108929280C>TCA348115709EDAR,RANBP2c.274G>A (p.Asp92Asn)
c.325G>A (p.Asp109Asn)
c.418G>A (p.Asp140Asn)
c.8370+156234C>T (n.8370+156234C>T)
2g.108929281T>ACA348115710EDAR,RANBP2c.273A>T (p.Lys91Asn)
c.324A>T (p.Lys108Asn)
c.417A>T (p.Lys139Asn)
c.8370+156235T>A (n.8370+156235T>A)
2g.108929281T>CCA428086845EDAR,RANBP2c.273A>G (p.Lys91=)
c.324A>G (p.Lys108=)
c.417A>G (p.Lys139=)
c.8370+156235T>C (n.8370+156235T>C)
 dbSNP
2g.108929281T>GCA348115711EDAR,RANBP2c.273A>C (p.Lys91Asn)
c.324A>C (p.Lys108Asn)
c.417A>C (p.Lys139Asn)
c.8370+156235T>G (n.8370+156235T>G)
2g.108929281T=CA1278368552EDAR,RANBP2c.273A= (p.Lys91=)
c.324A= (p.Lys108=)
c.417A= (p.Lys139=)
c.8370+156235T= (n.8370+156235T=)
2g.108929282_108929283delCA2660611276EDAR,RANBP2c.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
2g.108929282T>ACA348115712EDAR,RANBP2c.272A>T (p.Lys91Ile)
c.323A>T (p.Lys108Ile)
c.416A>T (p.Lys139Ile)
c.8370+156236T>A (n.8370+156236T>A)
2g.108929282T>CCA348115713EDAR,RANBP2c.272A>G (p.Lys91Arg)
c.323A>G (p.Lys108Arg)
c.416A>G (p.Lys139Arg)
c.8370+156236T>C (n.8370+156236T>C)
 gnomAD v4
2g.108929282T>GCA348115714EDAR,RANBP2c.272A>C (p.Lys91Thr)
c.323A>C (p.Lys108Thr)
c.416A>C (p.Lys139Thr)
c.8370+156236T>G (n.8370+156236T>G)
2g.108929283T>ACA348115716EDAR,RANBP2c.271A>T (p.Lys91Ter)
c.322A>T (p.Lys108Ter)
c.415A>T (p.Lys139Ter)
c.8370+156237T>A (n.8370+156237T>A)
2g.108929283T>CCA348115717EDAR,RANBP2c.271A>G (p.Lys91Glu)
c.322A>G (p.Lys108Glu)
c.415A>G (p.Lys139Glu)
c.8370+156237T>C (n.8370+156237T>C)
2g.108929283T>GCA348115715EDAR,RANBP2c.271A>C (p.Lys91Gln)
c.322A>C (p.Lys108Gln)
c.415A>C (p.Lys139Gln)
c.8370+156237T>G (n.8370+156237T>G)
2g.108929284G>ACA428086846EDAR,RANBP2c.270C>T (p.His90=)
c.321C>T (p.His107=)
c.414C>T (p.His138=)
c.8370+156238G>A (n.8370+156238G>A)
2g.108929284G>CCA348115718EDAR,RANBP2c.270C>G (p.His90Gln)
c.321C>G (p.His107Gln)
c.414C>G (p.His138Gln)
c.8370+156238G>C (n.8370+156238G>C)
2g.108929284G>TCA348115719EDAR,RANBP2c.270C>A (p.His90Gln)
c.321C>A (p.His107Gln)
c.414C>A (p.His138Gln)
c.8370+156238G>T (n.8370+156238G>T)
2g.108929285T>ACA348115720EDAR,RANBP2c.269A>T (p.His90Leu)
c.320A>T (p.His107Leu)
c.413A>T (p.His138Leu)
c.8370+156239T>A (n.8370+156239T>A)
2g.108929285T>CCA348115721EDAR,RANBP2c.269A>G (p.His90Arg)
c.320A>G (p.His107Arg)
c.413A>G (p.His138Arg)
c.8370+156239T>C (n.8370+156239T>C)
2g.108929285T>GCA348115722EDAR,RANBP2c.269A>C (p.His90Pro)
c.320A>C (p.His107Pro)
c.413A>C (p.His138Pro)
c.8370+156239T>G (n.8370+156239T>G)
2g.108929286G>ACA348115723EDAR,RANBP2c.268C>T (p.His90Tyr)
c.319C>T (p.His107Tyr)
c.412C>T (p.His138Tyr)
c.8370+156240G>A (n.8370+156240G>A)
2g.108929286G>CCA348115724EDAR,RANBP2c.268C>G (p.His90Asp)
c.319C>G (p.His107Asp)
c.412C>G (p.His138Asp)
c.8370+156240G>C (n.8370+156240G>C)
2g.108929286G>TCA348115725EDAR,RANBP2c.268C>A (p.His90Asn)
c.319C>A (p.His107Asn)
c.412C>A (p.His138Asn)
c.8370+156240G>T (n.8370+156240G>T)
2g.108929287A=CA1278368553EDAR,RANBP2c.267T= (p.Arg89=)
c.318T= (p.Arg106=)
c.411T= (p.Arg137=)
c.8370+156241A= (n.8370+156241A=)
2g.108929287A>CCA428086847EDAR,RANBP2c.267T>G (p.Arg89=)
c.318T>G (p.Arg106=)
c.411T>G (p.Arg137=)
c.8370+156241A>C (n.8370+156241A>C)
2g.108929287A>GCA428086848EDAR,RANBP2c.267T>C (p.Arg89=)
c.318T>C (p.Arg106=)
c.411T>C (p.Arg137=)
c.8370+156241A>G (n.8370+156241A>G)
2g.108929287A>TCA428086849EDAR,RANBP2c.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
2g.108929288C>ACA348115726EDAR,RANBP2c.266G>T (p.Arg89Leu)
c.317G>T (p.Arg106Leu)
c.410G>T (p.Arg137Leu)
c.8370+156242C>A (n.8370+156242C>A)
 gnomAD v4
2g.108929288C=CA1278368554EDAR,RANBP2c.266G= (p.Arg89=)
c.317G= (p.Arg106=)
c.410G= (p.Arg137=)
c.8370+156242C= (n.8370+156242C=)
2g.108929288C>GCA348115727EDAR,RANBP2c.266G>C (p.Arg89Pro)
c.317G>C (p.Arg106Pro)
c.410G>C (p.Arg137Pro)
c.8370+156242C>G (n.8370+156242C>G)
2g.108929288C>TCA130257EDAR,RANBP2c.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
2g.108929289G>ACA1825141EDAR,RANBP2c.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
2g.108929289G>CCA348115728EDAR,RANBP2c.265C>G (p.Arg89Gly)
c.316C>G (p.Arg106Gly)
c.409C>G (p.Arg137Gly)
c.8370+156243G>C (n.8370+156243G>C)
2g.108929289G=CA1278368555EDAR,RANBP2c.265C= (p.Arg89=)
c.316C= (p.Arg106=)
c.409C= (p.Arg137=)
c.8370+156243G= (n.8370+156243G=)
2g.108929289G>TCA54012146EDAR,RANBP2c.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
2g.108929290C>ACA348115730EDAR,RANBP2c.264G>T (p.Arg88Ser)
c.315G>T (p.Arg105Ser)
c.408G>T (p.Arg136Ser)
c.8370+156244C>A (n.8370+156244C>A)
2g.108929290C>GCA348115729EDAR,RANBP2c.264G>C (p.Arg88Ser)
c.315G>C (p.Arg105Ser)
c.408G>C (p.Arg136Ser)
c.8370+156244C>G (n.8370+156244C>G)
2g.108929290C>TCA428086850EDAR,RANBP2c.264G>A (p.Arg88=)
c.315G>A (p.Arg105=)
c.408G>A (p.Arg136=)
c.8370+156244C>T (n.8370+156244C>T)
2g.108929291C>ACA348115731EDAR,RANBP2c.263G>T (p.Arg88Met)
c.314G>T (p.Arg105Met)
c.407G>T (p.Arg136Met)
c.8370+156245C>A (n.8370+156245C>A)
2g.108929291C>GCA348115732EDAR,RANBP2c.263G>C (p.Arg88Thr)
c.314G>C (p.Arg105Thr)
c.407G>C (p.Arg136Thr)
c.8370+156245C>G (n.8370+156245C>G)
2g.108929291C>TCA348115733EDAR,RANBP2c.263G>A (p.Arg88Lys)
c.314G>A (p.Arg105Lys)
c.407G>A (p.Arg136Lys)
c.8370+156245C>T (n.8370+156245C>T)
2g.108929292T>ACA348115734EDAR,RANBP2c.262A>T (p.Arg88Trp)
c.313A>T (p.Arg105Trp)
c.406A>T (p.Arg136Trp)
c.8370+156246T>A (n.8370+156246T>A)
2g.108929292T>CCA348115735EDAR,RANBP2c.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
2g.108929292T>GCA428086851EDAR,RANBP2c.262A>C (p.Arg88=)
c.313A>C (p.Arg105=)
c.406A>C (p.Arg136=)
c.8370+156246T>G (n.8370+156246T>G)
2g.108929292T=CA1278368556EDAR,RANBP2c.262A= (p.Arg88=)
c.313A= (p.Arg105=)
c.406A= (p.Arg136=)
c.8370+156246T= (n.8370+156246T=)
2g.108929293G>ACA428086852EDAR,RANBP2c.261C>T (p.Cys87=)
c.312C>T (p.Cys104=)
c.405C>T (p.Cys135=)
c.8370+156247G>A (n.8370+156247G>A)
2g.108929293G>CCA348115736EDAR,RANBP2c.261C>G (p.Cys87Trp)
c.312C>G (p.Cys104Trp)
c.405C>G (p.Cys135Trp)
c.8370+156247G>C (n.8370+156247G>C)
2g.108929293G>TCA348115737EDAR,RANBP2c.261C>A (p.Cys87Ter)
c.312C>A (p.Cys104Ter)
c.405C>A (p.Cys135Ter)
c.8370+156247G>T (n.8370+156247G>T)
2g.108929294C>ACA348115738EDAR,RANBP2c.260G>T (p.Cys87Phe)
c.311G>T (p.Cys104Phe)
c.404G>T (p.Cys135Phe)
c.8370+156248C>A (n.8370+156248C>A)
2g.108929294C>GCA348115740EDAR,RANBP2c.260G>C (p.Cys87Ser)
c.311G>C (p.Cys104Ser)
c.404G>C (p.Cys135Ser)
c.8370+156248C>G (n.8370+156248C>G)
2g.108929294C>TCA348115739EDAR,RANBP2c.260G>A (p.Cys87Tyr)
c.311G>A (p.Cys104Tyr)
c.404G>A (p.Cys135Tyr)
c.8370+156248C>T (n.8370+156248C>T)
2g.108929295A=CA1278368557EDAR,RANBP2c.259T= (p.Cys87=)
c.310T= (p.Cys104=)
c.403T= (p.Cys135=)
c.8370+156249A= (n.8370+156249A=)
2g.108929295A>CCA348115741EDAR,RANBP2c.259T>G (p.Cys87Gly)
c.310T>G (p.Cys104Gly)
c.403T>G (p.Cys135Gly)
c.8370+156249A>C (n.8370+156249A>C)
 ClinVar
2g.108929295A>GCA253629EDAR,RANBP2c.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
2g.108929295A>TCA348115742EDAR,RANBP2c.259T>A (p.Cys87Ser)
c.310T>A (p.Cys104Ser)
c.403T>A (p.Cys135Ser)
c.8370+156249A>T (n.8370+156249A>T)
2g.108929296T>ACA428086853EDAR,RANBP2c.258A>T (p.Ile86=)
c.309A>T (p.Ile103=)
c.402A>T (p.Ile134=)
c.8370+156250T>A (n.8370+156250T>A)
2g.108929296T>CCA348115743EDAR,RANBP2c.258A>G (p.Ile86Met)
c.309A>G (p.Ile103Met)
c.402A>G (p.Ile134Met)
c.8370+156250T>C (n.8370+156250T>C)
2g.108929296T>GCA428086854EDAR,RANBP2c.258A>C (p.Ile86=)
c.309A>C (p.Ile103=)
c.402A>C (p.Ile134=)
c.8370+156250T>G (n.8370+156250T>G)
2g.108929297A>CCA348115744EDAR,RANBP2c.257T>G (p.Ile86Arg)
c.308T>G (p.Ile103Arg)
c.401T>G (p.Ile134Arg)
c.8370+156251A>C (n.8370+156251A>C)
2g.108929297A>GCA348115746EDAR,RANBP2c.257T>C (p.Ile86Thr)
c.308T>C (p.Ile103Thr)
c.401T>C (p.Ile134Thr)
c.8370+156251A>G (n.8370+156251A>G)
2g.108929297A>TCA348115745EDAR,RANBP2c.257T>A (p.Ile86Lys)
c.308T>A (p.Ile103Lys)
c.401T>A (p.Ile134Lys)
c.8370+156251A>T (n.8370+156251A>T)
2g.108929298T>ACA348115747EDAR,RANBP2c.256A>T (p.Ile86Leu)
c.307A>T (p.Ile103Leu)
c.400A>T (p.Ile134Leu)
c.8370+156252T>A (n.8370+156252T>A)
2g.108929298T>CCA348115748EDAR,RANBP2c.256A>G (p.Ile86Val)
c.307A>G (p.Ile103Val)
c.400A>G (p.Ile134Val)
c.8370+156252T>C (n.8370+156252T>C)
2g.108929298T>GCA348115749EDAR,RANBP2c.256A>C (p.Ile86Leu)
c.307A>C (p.Ile103Leu)
c.400A>C (p.Ile134Leu)
c.8370+156252T>G (n.8370+156252T>G)
 gnomAD v4
2g.108929299C>ACA348115750EDAR,RANBP2c.255G>T (p.Gln85His)
c.306G>T (p.Gln102His)
c.399G>T (p.Gln133His)
c.8370+156253C>A (n.8370+156253C>A)
 gnomAD v4
2g.108929299C>GCA348115751EDAR,RANBP2c.255G>C (p.Gln85His)
c.306G>C (p.Gln102His)
c.399G>C (p.Gln133His)
c.8370+156253C>G (n.8370+156253C>G)
2g.108929299C>TCA428086855EDAR,RANBP2c.255G>A (p.Gln85=)
c.306G>A (p.Gln102=)
c.399G>A (p.Gln133=)
c.8370+156253C>T (n.8370+156253C>T)
2g.108929300T>ACA348115752EDAR,RANBP2c.254A>T (p.Gln85Leu)
c.305A>T (p.Gln102Leu)
c.398A>T (p.Gln133Leu)
c.8370+156254T>A (n.8370+156254T>A)
2g.108929300T>CCA348115753EDAR,RANBP2c.254A>G (p.Gln85Arg)
c.305A>G (p.Gln102Arg)
c.398A>G (p.Gln133Arg)
c.8370+156254T>C (n.8370+156254T>C)
2g.108929300T>GCA348115754EDAR,RANBP2c.254A>C (p.Gln85Pro)
c.305A>C (p.Gln102Pro)
c.398A>C (p.Gln133Pro)
c.8370+156254T>G (n.8370+156254T>G)
2g.108929301G>ACA348115755EDAR,RANBP2c.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
2g.108929301G>CCA348115756EDAR,RANBP2c.253C>G (p.Gln85Glu)
c.304C>G (p.Gln102Glu)
c.397C>G (p.Gln133Glu)
c.8370+156255G>C (n.8370+156255G>C)
2g.108929301G=CA1278368558EDAR,RANBP2c.253C= (p.Gln85=)
c.304C= (p.Gln102=)
c.397C= (p.Gln133=)
c.8370+156255G= (n.8370+156255G=)
2g.108929301G>TCA348115757EDAR,RANBP2c.253C>A (p.Gln85Lys)
c.304C>A (p.Gln102Lys)
c.397C>A (p.Gln133Lys)
c.8370+156255G>T (n.8370+156255G>T)
2g.108929302G>ACA428086856EDAR,RANBP2c.252C>T (p.Tyr84=)
c.303C>T (p.Tyr101=)
c.396C>T (p.Tyr132=)
c.8370+156256G>A (n.8370+156256G>A)
2g.108929302G>CCA348115758EDAR,RANBP2c.252C>G (p.Tyr84Ter)
c.303C>G (p.Tyr101Ter)
c.396C>G (p.Tyr132Ter)
c.8370+156256G>C (n.8370+156256G>C)
2g.108929302G>TCA348115759EDAR,RANBP2c.252C>A (p.Tyr84Ter)
c.303C>A (p.Tyr101Ter)
c.396C>A (p.Tyr132Ter)
c.8370+156256G>T (n.8370+156256G>T)
2g.108929303T>ACA348115762EDAR,RANBP2c.251A>T (p.Tyr84Phe)
c.302A>T (p.Tyr101Phe)
c.395A>T (p.Tyr132Phe)
c.8370+156257T>A (n.8370+156257T>A)
2g.108929303T>CCA348115760EDAR,RANBP2c.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
2g.108929303T>GCA348115761EDAR,RANBP2c.251A>C (p.Tyr84Ser)
c.302A>C (p.Tyr101Ser)
c.395A>C (p.Tyr132Ser)
c.8370+156257T>G (n.8370+156257T>G)
2g.108929303T=CA1278368559EDAR,RANBP2c.251A= (p.Tyr84=)
c.302A= (p.Tyr101=)
c.395A= (p.Tyr132=)
c.8370+156257T= (n.8370+156257T=)
2g.108929304A>CCA348115763EDAR,RANBP2c.250T>G (p.Tyr84Asp)
c.301T>G (p.Tyr101Asp)
c.394T>G (p.Tyr132Asp)
c.8370+156258A>C (n.8370+156258A>C)
2g.108929304A>GCA348115764EDAR,RANBP2c.250T>C (p.Tyr84His)
c.301T>C (p.Tyr101His)
c.394T>C (p.Tyr132His)
c.8370+156258A>G (n.8370+156258A>G)
2g.108929304A>TCA348115765EDAR,RANBP2c.250T>A (p.Tyr84Asn)
c.301T>A (p.Tyr101Asn)
c.394T>A (p.Tyr132Asn)
c.8370+156258A>T (n.8370+156258A>T)
2g.108929305G>ACA428086857EDAR,RANBP2c.249C>T (p.Gly83=)
c.300C>T (p.Gly100=)
c.393C>T (p.Gly131=)
c.8370+156259G>A (n.8370+156259G>A)
2g.108929305G>CCA428086859EDAR,RANBP2c.249C>G (p.Gly83=)
c.300C>G (p.Gly100=)
c.393C>G (p.Gly131=)
c.8370+156259G>C (n.8370+156259G>C)
2g.108929305G>TCA428086858EDAR,RANBP2c.249C>A (p.Gly83=)
c.300C>A (p.Gly100=)
c.393C>A (p.Gly131=)
c.8370+156259G>T (n.8370+156259G>T)
2g.108929306C>ACA348115766EDAR,RANBP2c.248G>T (p.Gly83Val)
c.299G>T (p.Gly100Val)
c.392G>T (p.Gly131Val)
c.8370+156260C>A (n.8370+156260C>A)
2g.108929306C=CA1278368560EDAR,RANBP2c.248G= (p.Gly83=)
c.299G= (p.Gly100=)
c.392G= (p.Gly131=)
c.8370+156260C= (n.8370+156260C=)
2g.108929306C>GCA348115767EDAR,RANBP2c.248G>C (p.Gly83Ala)
c.299G>C (p.Gly100Ala)
c.392G>C (p.Gly131Ala)
c.8370+156260C>G (n.8370+156260C>G)
2g.108929306C>TCA54012147EDAR,RANBP2c.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
2g.108929307C>ACA348115768EDAR,RANBP2c.247G>T (p.Gly83Cys)
c.298G>T (p.Gly100Cys)
c.391G>T (p.Gly131Cys)
c.8370+156261C>A (n.8370+156261C>A)
 dbSNP
2g.108929307C=CA1278368561EDAR,RANBP2c.247G= (p.Gly83=)
c.298G= (p.Gly100=)
c.391G= (p.Gly131=)
c.8370+156261C= (n.8370+156261C=)
2g.108929307C>GCA348115769EDAR,RANBP2c.247G>C (p.Gly83Arg)
c.298G>C (p.Gly100Arg)
c.391G>C (p.Gly131Arg)
c.8370+156261C>G (n.8370+156261C>G)
2g.108929307C>TCA348115770EDAR,RANBP2c.247G>A (p.Gly83Ser)
c.298G>A (p.Gly100Ser)
c.391G>A (p.Gly131Ser)
c.8370+156261C>T (n.8370+156261C>T)
 dbSNP
2g.108929308T>ACA428086860EDAR,RANBP2c.246A>T (p.Gly82=)
c.297A>T (p.Gly99=)
c.390A>T (p.Gly130=)
c.8370+156262T>A (n.8370+156262T>A)
2g.108929308T>CCA428086861EDAR,RANBP2c.246A>G (p.Gly82=)
c.297A>G (p.Gly99=)
c.390A>G (p.Gly130=)
c.8370+156262T>C (n.8370+156262T>C)
2g.108929308T>GCA428086862EDAR,RANBP2c.246A>C (p.Gly82=)
c.297A>C (p.Gly99=)
c.390A>C (p.Gly130=)
c.8370+156262T>G (n.8370+156262T>G)
2g.108929309C>ACA348115771EDAR,RANBP2c.245G>T (p.Gly82Val)
c.296G>T (p.Gly99Val)
c.389G>T (p.Gly130Val)
c.8370+156263C>A (n.8370+156263C>A)
2g.108929309C>GCA348115772EDAR,RANBP2c.245G>C (p.Gly82Ala)
c.296G>C (p.Gly99Ala)
c.389G>C (p.Gly130Ala)
c.8370+156263C>G (n.8370+156263C>G)
2g.108929309C>TCA348115773EDAR,RANBP2c.245G>A (p.Gly82Glu)
c.296G>A (p.Gly99Glu)
c.389G>A (p.Gly130Glu)
c.8370+156263C>T (n.8370+156263C>T)
2g.108929310C>ACA348115775EDAR,RANBP2c.244G>T (p.Gly82Ter)
c.295G>T (p.Gly99Ter)
c.388G>T (p.Gly130Ter)
c.8370+156264C>A (n.8370+156264C>A)
 COSMIC COSMIC
2g.108929310C>GCA348115776EDAR,RANBP2c.244G>C (p.Gly82Arg)
c.295G>C (p.Gly99Arg)
c.388G>C (p.Gly130Arg)
c.8370+156264C>G (n.8370+156264C>G)
2g.108929310C>TCA348115774EDAR,RANBP2c.244G>A (p.Gly82Arg)
c.295G>A (p.Gly99Arg)
c.388G>A (p.Gly130Arg)
c.8370+156264C>T (n.8370+156264C>T)
2g.108929311T>ACA348115777EDAR,RANBP2c.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
2g.108929311T>CCA1825142EDAR,RANBP2c.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
2g.108929311T>GCA348115778EDAR,RANBP2c.243A>C (p.Lys81Asn)
c.294A>C (p.Lys98Asn)
c.387A>C (p.Lys129Asn)
c.8370+156265T>G (n.8370+156265T>G)
2g.108929311T=CA1278368562EDAR,RANBP2c.243A= (p.Lys81=)
c.294A= (p.Lys98=)
c.387A= (p.Lys129=)
c.8370+156265T= (n.8370+156265T=)
2g.108929312T>ACA348115779EDAR,RANBP2c.242A>T (p.Lys81Ile)
c.293A>T (p.Lys98Ile)
c.386A>T (p.Lys129Ile)
c.8370+156266T>A (n.8370+156266T>A)
2g.108929312T>CCA54012148EDAR,RANBP2c.242A>G (p.Lys81Arg)
c.293A>G (p.Lys98Arg)
c.386A>G (p.Lys129Arg)
c.8370+156266T>C (n.8370+156266T>C)
 dbSNP
2g.108929312T>GCA348115780EDAR,RANBP2c.242A>C (p.Lys81Thr)
c.293A>C (p.Lys98Thr)
c.386A>C (p.Lys129Thr)
c.8370+156266T>G (n.8370+156266T>G)
2g.108929312T=CA1278368563EDAR,RANBP2c.242A= (p.Lys81=)
c.293A= (p.Lys98=)
c.386A= (p.Lys129=)
c.8370+156266T= (n.8370+156266T=)
2g.108929313T>ACA348115781EDAR,RANBP2c.241A>T (p.Lys81Ter)
c.292A>T (p.Lys98Ter)
c.385A>T (p.Lys129Ter)
c.8370+156267T>A (n.8370+156267T>A)
2g.108929313T>CCA348115782EDAR,RANBP2c.241A>G (p.Lys81Glu)
c.292A>G (p.Lys98Glu)
c.385A>G (p.Lys129Glu)
c.8370+156267T>C (n.8370+156267T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108929313T>GCA348115783EDAR,RANBP2c.241A>C (p.Lys81Gln)
c.292A>C (p.Lys98Gln)
c.385A>C (p.Lys129Gln)
c.8370+156267T>G (n.8370+156267T>G)
2g.108929313T=CA1278368564EDAR,RANBP2c.241A= (p.Lys81=)
c.292A= (p.Lys98=)
c.385A= (p.Lys129=)
c.8370+156267T= (n.8370+156267T=)
2g.108929314G>ACA428086864EDAR,RANBP2c.240C>T (p.Ser80=)
c.291C>T (p.Ser97=)
c.384C>T (p.Ser128=)
c.8370+156268G>A (n.8370+156268G>A)
2g.108929314G>CCA428086865EDAR,RANBP2c.240C>G (p.Ser80=)
c.291C>G (p.Ser97=)
c.384C>G (p.Ser128=)
c.8370+156268G>C (n.8370+156268G>C)
2g.108929314G>TCA428086863EDAR,RANBP2c.240C>A (p.Ser80=)
c.291C>A (p.Ser97=)
c.384C>A (p.Ser128=)
c.8370+156268G>T (n.8370+156268G>T)
2g.108929315G>ACA348115784EDAR,RANBP2c.239C>T (p.Ser80Phe)
c.290C>T (p.Ser97Phe)
c.383C>T (p.Ser128Phe)
c.8370+156269G>A (n.8370+156269G>A)
 gnomAD v4 COSMIC COSMIC
2g.108929315G>CCA348115785EDAR,RANBP2c.239C>G (p.Ser80Cys)
c.290C>G (p.Ser97Cys)
c.383C>G (p.Ser128Cys)
c.8370+156269G>C (n.8370+156269G>C)
2g.108929315G>TCA348115786EDAR,RANBP2c.239C>A (p.Ser80Tyr)
c.290C>A (p.Ser97Tyr)
c.383C>A (p.Ser128Tyr)
c.8370+156269G>T (n.8370+156269G>T)
2g.108929316A>CCA348115787EDAR,RANBP2c.238T>G (p.Ser80Ala)
c.289T>G (p.Ser97Ala)
c.382T>G (p.Ser128Ala)
c.8370+156270A>C (n.8370+156270A>C)
2g.108929316A>GCA348115788EDAR,RANBP2c.238T>C (p.Ser80Pro)
c.289T>C (p.Ser97Pro)
c.382T>C (p.Ser128Pro)
c.8370+156270A>G (n.8370+156270A>G)
2g.108929316A>TCA348115789EDAR,RANBP2c.238T>A (p.Ser80Thr)
c.289T>A (p.Ser97Thr)
c.382T>A (p.Ser128Thr)
c.8370+156270A>T (n.8370+156270A>T)
2g.108929317A=CA1278368565EDAR,RANBP2c.237T= (p.Phe79=)
c.288T= (p.Phe96=)
c.381T= (p.Phe127=)
c.8370+156271A= (n.8370+156271A=)
2g.108929317A>CCA348115790EDAR,RANBP2c.237T>G (p.Phe79Leu)
c.288T>G (p.Phe96Leu)
c.381T>G (p.Phe127Leu)
c.8370+156271A>C (n.8370+156271A>C)
2g.108929317A>GCA428086866EDAR,RANBP2c.237T>C (p.Phe79=)
c.288T>C (p.Phe96=)
c.381T>C (p.Phe127=)
c.8370+156271A>G (n.8370+156271A>G)
 dbSNP
2g.108929317A>TCA348115791EDAR,RANBP2c.237T>A (p.Phe79Leu)
c.288T>A (p.Phe96Leu)
c.381T>A (p.Phe127Leu)
c.8370+156271A>T (n.8370+156271A>T)
2g.108929318A>CCA348115792EDAR,RANBP2c.236T>G (p.Phe79Cys)
c.287T>G (p.Phe96Cys)
c.380T>G (p.Phe127Cys)
c.8370+156272A>C (n.8370+156272A>C)
2g.108929318A>GCA348115793EDAR,RANBP2c.236T>C (p.Phe79Ser)
c.287T>C (p.Phe96Ser)
c.380T>C (p.Phe127Ser)
c.8370+156272A>G (n.8370+156272A>G)
2g.108929318A>TCA348115794EDAR,RANBP2c.236T>A (p.Phe79Tyr)
c.287T>A (p.Phe96Tyr)
c.380T>A (p.Phe127Tyr)
c.8370+156272A>T (n.8370+156272A>T)
2g.108929319A>CCA348115795EDAR,RANBP2c.235T>G (p.Phe79Val)
c.286T>G (p.Phe96Val)
c.379T>G (p.Phe127Val)
c.8370+156273A>C (n.8370+156273A>C)
2g.108929319A>GCA348115796EDAR,RANBP2c.235T>C (p.Phe79Leu)
c.286T>C (p.Phe96Leu)
c.379T>C (p.Phe127Leu)
c.8370+156273A>G (n.8370+156273A>G)
2g.108929319A>TCA348115797EDAR,RANBP2c.235T>A (p.Phe79Ile)
c.286T>A (p.Phe96Ile)
c.379T>A (p.Phe127Ile)
c.8370+156273A>T (n.8370+156273A>T)
2g.108929319_108929322delinsACTTCA1278368566EDAR,RANBP2c.232_235delinsAAGT (p.Lys78=)
c.283_286delinsAAGT (p.Lys95=)
c.376_379delinsAAGT (p.Lys126=)
c.8370+156273_8370+156276delinsACTT (n.8370+156273_8370+156276delinsACTT)
2g.108929320C>ACA348115799EDAR,RANBP2c.234G>T (p.Lys78Asn)
c.285G>T (p.Lys95Asn)
c.378G>T (p.Lys126Asn)
c.8370+156274C>A (n.8370+156274C>A)
2g.108929320C>GCA348115798EDAR,RANBP2c.234G>C (p.Lys78Asn)
c.285G>C (p.Lys95Asn)
c.378G>C (p.Lys126Asn)
c.8370+156274C>G (n.8370+156274C>G)
2g.108929320C>TCA428086867EDAR,RANBP2c.234G>A (p.Lys78=)
c.285G>A (p.Lys95=)
c.378G>A (p.Lys126=)
c.8370+156274C>T (n.8370+156274C>T)
 gnomAD v4
2g.108929322_108929324delCA535597401EDAR,RANBP2c.232_234del (p.Lys78del)
c.283_285del (p.Lys95del)
c.376_378del (p.Lys126del)
c.8370+156276_8370+156278del (n.8370+156276_8370+156278del)
 dbSNP gnomAD v2 gnomAD v4
2g.108929321T>ACA348115800EDAR,RANBP2c.233A>T (p.Lys78Met)
c.284A>T (p.Lys95Met)
c.377A>T (p.Lys126Met)
c.8370+156275T>A (n.8370+156275T>A)
2g.108929321T>CCA348115801EDAR,RANBP2c.233A>G (p.Lys78Arg)
c.284A>G (p.Lys95Arg)
c.377A>G (p.Lys126Arg)
c.8370+156275T>C (n.8370+156275T>C)
 dbSNP
2g.108929321T>GCA348115802EDAR,RANBP2c.233A>C (p.Lys78Thr)
c.284A>C (p.Lys95Thr)
c.377A>C (p.Lys126Thr)
c.8370+156275T>G (n.8370+156275T>G)
2g.108929321T=CA1278368567EDAR,RANBP2c.233A= (p.Lys78=)
c.284A= (p.Lys95=)
c.377A= (p.Lys126=)
c.8370+156275T= (n.8370+156275T=)
2g.108929322T>ACA348115803EDAR,RANBP2c.232A>T (p.Lys78Ter)
c.283A>T (p.Lys95Ter)
c.376A>T (p.Lys126Ter)
c.8370+156276T>A (n.8370+156276T>A)
2g.108929322T>CCA1825143EDAR,RANBP2c.232A>G (p.Lys78Glu)
c.283A>G (p.Lys95Glu)
c.376A>G (p.Lys126Glu)
c.8370+156276T>C (n.8370+156276T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929322T>GCA348115804EDAR,RANBP2c.232A>C (p.Lys78Gln)
c.283A>C (p.Lys95Gln)
c.376A>C (p.Lys126Gln)
c.8370+156276T>G (n.8370+156276T>G)
2g.108929322T=CA1278368568EDAR,RANBP2c.232A= (p.Lys78=)
c.283A= (p.Lys95=)
c.376A= (p.Lys126=)
c.8370+156276T= (n.8370+156276T=)
2g.108929322_108929325delinsTCTCCA1278368569EDAR,RANBP2c.229_232delinsGAGA (p.Glu77=)
c.280_283delinsGAGA (p.Glu94=)
c.373_376delinsGAGA (p.Glu125=)
c.8370+156276_8370+156279delinsTCTC (n.8370+156276_8370+156279delinsTCTC)
2g.108929323C>ACA348115805EDAR,RANBP2c.231G>T (p.Glu77Asp)
c.282G>T (p.Glu94Asp)
c.375G>T (p.Glu125Asp)
c.8370+156277C>A (n.8370+156277C>A)
 COSMIC COSMIC
2g.108929323C>GCA348115806EDAR,RANBP2c.231G>C (p.Glu77Asp)
c.282G>C (p.Glu94Asp)
c.375G>C (p.Glu125Asp)
c.8370+156277C>G (n.8370+156277C>G)
 COSMIC COSMIC
2g.108929323C>TCA428086868EDAR,RANBP2c.231G>A (p.Glu77=)
c.282G>A (p.Glu94=)
c.375G>A (p.Glu125=)
c.8370+156277C>T (n.8370+156277C>T)
2g.108929324_108929326delCA54012149EDAR,RANBP2c.229_231del (p.Glu77del)
c.280_282del (p.Glu94del)
c.373_375del (p.Glu125del)
c.8370+156278_8370+156280del (n.8370+156278_8370+156280del)
 dbSNP
2g.108929324T>ACA348115807EDAR,RANBP2c.230A>T (p.Glu77Val)
c.281A>T (p.Glu94Val)
c.374A>T (p.Glu125Val)
c.8370+156278T>A (n.8370+156278T>A)
2g.108929324T>CCA348115808EDAR,RANBP2c.230A>G (p.Glu77Gly)
c.281A>G (p.Glu94Gly)
c.374A>G (p.Glu125Gly)
c.8370+156278T>C (n.8370+156278T>C)
 gnomAD v4
2g.108929324T>GCA348115809EDAR,RANBP2c.230A>C (p.Glu77Ala)
c.281A>C (p.Glu94Ala)
c.374A>C (p.Glu125Ala)
c.8370+156278T>G (n.8370+156278T>G)
2g.108929325C>ACA348115810EDAR,RANBP2c.229G>T (p.Glu77Ter)
c.280G>T (p.Glu94Ter)
c.373G>T (p.Glu125Ter)
c.8370+156279C>A (n.8370+156279C>A)
2g.108929325C>GCA348115811EDAR,RANBP2c.229G>C (p.Glu77Gln)
c.280G>C (p.Glu94Gln)
c.373G>C (p.Glu125Gln)
c.8370+156279C>G (n.8370+156279C>G)
2g.108929325C>TCA348115812EDAR,RANBP2c.229G>A (p.Glu77Lys)
c.280G>A (p.Glu94Lys)
c.373G>A (p.Glu125Lys)
c.8370+156279C>T (n.8370+156279C>T)
2g.108929326C>ACA428086869EDAR,RANBP2c.228G>T (p.Ala76=)
c.279G>T (p.Ala93=)
c.372G>T (p.Ala124=)
c.8370+156280C>A (n.8370+156280C>A)
2g.108929326C=CA1278368570EDAR,RANBP2c.228G= (p.Ala76=)
c.279G= (p.Ala93=)
c.372G= (p.Ala124=)
c.8370+156280C= (n.8370+156280C=)
2g.108929326C>GCA428086870EDAR,RANBP2c.228G>C (p.Ala76=)
c.279G>C (p.Ala93=)
c.372G>C (p.Ala124=)
c.8370+156280C>G (n.8370+156280C>G)
2g.108929326C>TCA1825144EDAR,RANBP2c.228G>A (p.Ala76=)
c.279G>A (p.Ala93=)
c.372G>A (p.Ala124=)
c.8370+156280C>T (n.8370+156280C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929326_108929327delinsCGCA1278368571EDAR,RANBP2c.227_228delinsCG (p.Ala76=)
c.278_279delinsCG (p.Ala93=)
c.371_372delinsCG (p.Ala124=)
c.8370+156280_8370+156281delinsCG (n.8370+156280_8370+156281delinsCG)
2g.108929327delCA54012150EDAR,RANBP2c.227del (p.Ala76GlyfsTer27)
c.278del (p.Ala93GlyfsTer27)
c.371del (p.Ala124GlyfsTer27)
c.8370+156281del (n.8370+156281del)
 dbSNP gnomAD v4
2g.108929327G>ACA1825145EDAR,RANBP2c.227C>T (p.Ala76Val)
c.278C>T (p.Ala93Val)
c.371C>T (p.Ala124Val)
c.8370+156281G>A (n.8370+156281G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929327G>CCA348115813EDAR,RANBP2c.227C>G (p.Ala76Gly)
c.278C>G (p.Ala93Gly)
c.371C>G (p.Ala124Gly)
c.8370+156281G>C (n.8370+156281G>C)
2g.108929327G=CA1278368572EDAR,RANBP2c.227C= (p.Ala76=)
c.278C= (p.Ala93=)
c.371C= (p.Ala124=)
c.8370+156281G= (n.8370+156281G=)
2g.108929327G>TCA54012151EDAR,RANBP2c.227C>A (p.Ala76Glu)
c.278C>A (p.Ala93Glu)
c.371C>A (p.Ala124Glu)
c.8370+156281G>T (n.8370+156281G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929328C>ACA348115814EDAR,RANBP2c.226G>T (p.Ala76Ser)
c.277G>T (p.Ala93Ser)
c.370G>T (p.Ala124Ser)
c.8370+156282C>A (n.8370+156282C>A)
2g.108929328C>GCA348115815EDAR,RANBP2c.226G>C (p.Ala76Pro)
c.277G>C (p.Ala93Pro)
c.370G>C (p.Ala124Pro)
c.8370+156282C>G (n.8370+156282C>G)
2g.108929328C>TCA348115816EDAR,RANBP2c.226G>A (p.Ala76Thr)
c.277G>A (p.Ala93Thr)
c.370G>A (p.Ala124Thr)
c.8370+156282C>T (n.8370+156282C>T)
2g.108929329C>ACA428086871EDAR,RANBP2c.225G>T (p.Pro75=)
c.276G>T (p.Pro92=)
c.369G>T (p.Pro123=)
c.8370+156283C>A (n.8370+156283C>A)
2g.108929329C=CA1278368573EDAR,RANBP2c.225G= (p.Pro75=)
c.276G= (p.Pro92=)
c.369G= (p.Pro123=)
c.8370+156283C= (n.8370+156283C=)
2g.108929329C>GCA428086872EDAR,RANBP2c.225G>C (p.Pro75=)
c.276G>C (p.Pro92=)
c.369G>C (p.Pro123=)
c.8370+156283C>G (n.8370+156283C>G)
2g.108929329C>TCA1825146EDAR,RANBP2c.225G>A (p.Pro75=)
c.276G>A (p.Pro92=)
c.369G>A (p.Pro123=)
c.8370+156283C>T (n.8370+156283C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929330G>ACA1825147EDAR,RANBP2c.224C>T (p.Pro75Leu)
c.275C>T (p.Pro92Leu)
c.368C>T (p.Pro123Leu)
c.8370+156284G>A (n.8370+156284G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929330G>CCA348115818EDAR,RANBP2c.224C>G (p.Pro75Arg)
c.275C>G (p.Pro92Arg)
c.368C>G (p.Pro123Arg)
c.8370+156284G>C (n.8370+156284G>C)
2g.108929330G=CA1278368574EDAR,RANBP2c.224C= (p.Pro75=)
c.275C= (p.Pro92=)
c.368C= (p.Pro123=)
c.8370+156284G= (n.8370+156284G=)
2g.108929330G>TCA348115817EDAR,RANBP2c.224C>A (p.Pro75Gln)
c.275C>A (p.Pro92Gln)
c.368C>A (p.Pro123Gln)
c.8370+156284G>T (n.8370+156284G>T)
 gnomAD v4
2g.108929331G>ACA1825148EDAR,RANBP2c.223C>T (p.Pro75Ser)
c.274C>T (p.Pro92Ser)
c.367C>T (p.Pro123Ser)
c.8370+156285G>A (n.8370+156285G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929331G>CCA348115819EDAR,RANBP2c.223C>G (p.Pro75Ala)
c.274C>G (p.Pro92Ala)
c.367C>G (p.Pro123Ala)
c.8370+156285G>C (n.8370+156285G>C)
2g.108929331G=CA1278368575EDAR,RANBP2c.223C= (p.Pro75=)
c.274C= (p.Pro92=)
c.367C= (p.Pro123=)
c.8370+156285G= (n.8370+156285G=)
2g.108929331G>TCA348115820EDAR,RANBP2c.223C>A (p.Pro75Thr)
c.274C>A (p.Pro92Thr)
c.367C>A (p.Pro123Thr)
c.8370+156285G>T (n.8370+156285G>T)
2g.108929332G>ACA428086873EDAR,RANBP2c.222C>T (p.Cys74=)
c.273C>T (p.Cys91=)
c.366C>T (p.Cys122=)
c.8370+156286G>A (n.8370+156286G>A)
2g.108929332G>CCA348115821EDAR,RANBP2c.222C>G (p.Cys74Trp)
c.273C>G (p.Cys91Trp)
c.366C>G (p.Cys122Trp)
c.8370+156286G>C (n.8370+156286G>C)
2g.108929332G=CA1278368576EDAR,RANBP2c.222C= (p.Cys74=)
c.273C= (p.Cys91=)
c.366C= (p.Cys122=)
c.8370+156286G= (n.8370+156286G=)
2g.108929332G>TCA348115822EDAR,RANBP2c.222C>A (p.Cys74Ter)
c.273C>A (p.Cys91Ter)
c.366C>A (p.Cys122Ter)
c.8370+156286G>T (n.8370+156286G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929333C>ACA348115823EDAR,RANBP2c.221G>T (p.Cys74Phe)
c.272G>T (p.Cys91Phe)
c.365G>T (p.Cys122Phe)
c.8370+156287C>A (n.8370+156287C>A)
2g.108929333C>GCA348115824EDAR,RANBP2c.221G>C (p.Cys74Ser)
c.272G>C (p.Cys91Ser)
c.365G>C (p.Cys122Ser)
c.8370+156287C>G (n.8370+156287C>G)
2g.108929333C>TCA348115825EDAR,RANBP2c.221G>A (p.Cys74Tyr)
c.272G>A (p.Cys91Tyr)
c.365G>A (p.Cys122Tyr)
c.8370+156287C>T (n.8370+156287C>T)
2g.108929334A=CA1278368577EDAR,RANBP2c.220T= (p.Cys74=)
c.271T= (p.Cys91=)
c.364T= (p.Cys122=)
c.8370+156288A= (n.8370+156288A=)
2g.108929334A>CCA348115826EDAR,RANBP2c.220T>G (p.Cys74Gly)
c.271T>G (p.Cys91Gly)
c.364T>G (p.Cys122Gly)
c.8370+156288A>C (n.8370+156288A>C)
2g.108929334A>GCA348115827EDAR,RANBP2c.220T>C (p.Cys74Arg)
c.271T>C (p.Cys91Arg)
c.364T>C (p.Cys122Arg)
c.8370+156288A>G (n.8370+156288A>G)
 dbSNP
2g.108929334A>TCA348115828EDAR,RANBP2c.220T>A (p.Cys74Ser)
c.271T>A (p.Cys91Ser)
c.364T>A (p.Cys122Ser)
c.8370+156288A>T (n.8370+156288A>T)
 gnomAD v4
2g.108929335G>ACA428086874EDAR,RANBP2c.219C>T (p.Pro73=)
c.270C>T (p.Pro90=)
c.363C>T (p.Pro121=)
c.8370+156289G>A (n.8370+156289G>A)
2g.108929335G>CCA428086876EDAR,RANBP2c.219C>G (p.Pro73=)
c.270C>G (p.Pro90=)
c.363C>G (p.Pro121=)
c.8370+156289G>C (n.8370+156289G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108929335G=CA1278368578EDAR,RANBP2c.219C= (p.Pro73=)
c.270C= (p.Pro90=)
c.363C= (p.Pro121=)
c.8370+156289G= (n.8370+156289G=)
2g.108929335G>TCA428086875EDAR,RANBP2c.219C>A (p.Pro73=)
c.270C>A (p.Pro90=)
c.363C>A (p.Pro121=)
c.8370+156289G>T (n.8370+156289G>T)
2g.108929336G>ACA348115831EDAR,RANBP2c.218C>T (p.Pro73Leu)
c.269C>T (p.Pro90Leu)
c.362C>T (p.Pro121Leu)
c.8370+156290G>A (n.8370+156290G>A)
 gnomAD v4
2g.108929336G>CCA348115829EDAR,RANBP2c.218C>G (p.Pro73Arg)
c.269C>G (p.Pro90Arg)
c.362C>G (p.Pro121Arg)
c.8370+156290G>C (n.8370+156290G>C)
2g.108929336G>TCA348115830EDAR,RANBP2c.218C>A (p.Pro73His)
c.269C>A (p.Pro90His)
c.362C>A (p.Pro121His)
c.8370+156290G>T (n.8370+156290G>T)
 COSMIC COSMIC
2g.108929337G>ACA348115832EDAR,RANBP2c.217C>T (p.Pro73Ser)
c.268C>T (p.Pro90Ser)
c.361C>T (p.Pro121Ser)
c.8370+156291G>A (n.8370+156291G>A)
2g.108929337G>CCA348115833EDAR,RANBP2c.217C>G (p.Pro73Ala)
c.268C>G (p.Pro90Ala)
c.361C>G (p.Pro121Ala)
c.8370+156291G>C (n.8370+156291G>C)
2g.108929337G>TCA348115834EDAR,RANBP2c.217C>A (p.Pro73Thr)
c.268C>A (p.Pro90Thr)
c.361C>A (p.Pro121Thr)
c.8370+156291G>T (n.8370+156291G>T)
2g.108929338G>ACA428086877EDAR,RANBP2c.216C>T (p.Val72=)
c.267C>T (p.Val89=)
c.360C>T (p.Val120=)
c.8370+156292G>A (n.8370+156292G>A)
2g.108929338G>CCA428086878EDAR,RANBP2c.216C>G (p.Val72=)
c.267C>G (p.Val89=)
c.360C>G (p.Val120=)
c.8370+156292G>C (n.8370+156292G>C)
 dbSNP
2g.108929338G=CA1278368579EDAR,RANBP2c.216C= (p.Val72=)
c.267C= (p.Val89=)
c.360C= (p.Val120=)
c.8370+156292G= (n.8370+156292G=)
2g.108929338G>TCA428086880EDAR,RANBP2c.216C>A (p.Val72=)
c.267C>A (p.Val89=)
c.360C>A (p.Val120=)
c.8370+156292G>T (n.8370+156292G>T)
2g.108929339A=CA1278368580EDAR,RANBP2c.215T= (p.Val72=)
c.266T= (p.Val89=)
c.359T= (p.Val120=)
c.8370+156293A= (n.8370+156293A=)
2g.108929339A>CCA348115835EDAR,RANBP2c.215T>G (p.Val72Gly)
c.266T>G (p.Val89Gly)
c.359T>G (p.Val120Gly)
c.8370+156293A>C (n.8370+156293A>C)
 dbSNP
2g.108929339A>GCA348115836EDAR,RANBP2c.215T>C (p.Val72Ala)
c.266T>C (p.Val89Ala)
c.359T>C (p.Val120Ala)
c.8370+156293A>G (n.8370+156293A>G)
2g.108929339A>TCA348115837EDAR,RANBP2c.215T>A (p.Val72Asp)
c.266T>A (p.Val89Asp)
c.359T>A (p.Val120Asp)
c.8370+156293A>T (n.8370+156293A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108929340C>ACA348115838EDAR,RANBP2c.214G>T (p.Val72Phe)
c.265G>T (p.Val89Phe)
c.358G>T (p.Val120Phe)
c.8370+156294C>A (n.8370+156294C>A)
2g.108929340C=CA1278368581EDAR,RANBP2c.214G= (p.Val72=)
c.265G= (p.Val89=)
c.358G= (p.Val120=)
c.8370+156294C= (n.8370+156294C=)
2g.108929340C>GCA1825149EDAR,RANBP2c.214G>C (p.Val72Leu)
c.265G>C (p.Val89Leu)
c.358G>C (p.Val120Leu)
c.8370+156294C>G (n.8370+156294C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929340C>TCA1825150EDAR,RANBP2c.214G>A (p.Val72Ile)
c.265G>A (p.Val89Ile)
c.358G>A (p.Val120Ile)
c.8370+156294C>T (n.8370+156294C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929341G>ACA1825151EDAR,RANBP2c.213C>T (p.Cys71=)
c.264C>T (p.Cys88=)
c.357C>T (p.Cys119=)
c.8370+156295G>A (n.8370+156295G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929341G>CCA348115839EDAR,RANBP2c.213C>G (p.Cys71Trp)
c.264C>G (p.Cys88Trp)
c.357C>G (p.Cys119Trp)
c.8370+156295G>C (n.8370+156295G>C)
2g.108929341G=CA1278368582EDAR,RANBP2c.213C= (p.Cys71=)
c.264C= (p.Cys88=)
c.357C= (p.Cys119=)
c.8370+156295G= (n.8370+156295G=)
2g.108929341G>TCA348115840EDAR,RANBP2c.213C>A (p.Cys71Ter)
c.264C>A (p.Cys88Ter)
c.357C>A (p.Cys119Ter)
c.8370+156295G>T (n.8370+156295G>T)
2g.108929342C>ACA348115841EDAR,RANBP2c.212G>T (p.Cys71Phe)
c.263G>T (p.Cys88Phe)
c.356G>T (p.Cys119Phe)
c.8370+156296C>A (n.8370+156296C>A)
2g.108929342C=CA1278368583EDAR,RANBP2c.212G= (p.Cys71=)
c.263G= (p.Cys88=)
c.356G= (p.Cys119=)
c.8370+156296C= (n.8370+156296C=)
2g.108929342C>GCA348115842EDAR,RANBP2c.212G>C (p.Cys71Ser)
c.263G>C (p.Cys88Ser)
c.356G>C (p.Cys119Ser)
c.8370+156296C>G (n.8370+156296C>G)
2g.108929342C>TCA1825152EDAR,RANBP2c.212G>A (p.Cys71Tyr)
c.263G>A (p.Cys88Tyr)
c.356G>A (p.Cys119Tyr)
c.8370+156296C>T (n.8370+156296C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929343A>CCA348115843EDAR,RANBP2c.211T>G (p.Cys71Gly)
c.262T>G (p.Cys88Gly)
c.355T>G (p.Cys119Gly)
c.8370+156297A>C (n.8370+156297A>C)
2g.108929343A>GCA348115845EDAR,RANBP2c.211T>C (p.Cys71Arg)
c.262T>C (p.Cys88Arg)
c.355T>C (p.Cys119Arg)
c.8370+156297A>G (n.8370+156297A>G)
2g.108929343A>TCA348115844EDAR,RANBP2c.211T>A (p.Cys71Ser)
c.262T>A (p.Cys88Ser)
c.355T>A (p.Cys119Ser)
c.8370+156297A>T (n.8370+156297A>T)
2g.108929344G>ACA428086883EDAR,RANBP2c.210C>T (p.Gly70=)
c.261C>T (p.Gly87=)
c.354C>T (p.Gly118=)
c.8370+156298G>A (n.8370+156298G>A)
2g.108929344G>CCA428086885EDAR,RANBP2c.210C>G (p.Gly70=)
c.261C>G (p.Gly87=)
c.354C>G (p.Gly118=)
c.8370+156298G>C (n.8370+156298G>C)
2g.108929344G>TCA428086886EDAR,RANBP2c.210C>A (p.Gly70=)
c.261C>A (p.Gly87=)
c.354C>A (p.Gly118=)
c.8370+156298G>T (n.8370+156298G>T)
2g.108929345C>ACA348115846EDAR,RANBP2c.209G>T (p.Gly70Val)
c.260G>T (p.Gly87Val)
c.353G>T (p.Gly118Val)
c.8370+156299C>A (n.8370+156299C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108929345C=CA1278368584EDAR,RANBP2c.209G= (p.Gly70=)
c.260G= (p.Gly87=)
c.353G= (p.Gly118=)
c.8370+156299C= (n.8370+156299C=)
2g.108929345C>GCA348115847EDAR,RANBP2c.209G>C (p.Gly70Ala)
c.260G>C (p.Gly87Ala)
c.353G>C (p.Gly118Ala)
c.8370+156299C>G (n.8370+156299C>G)
2g.108929345C>TCA348115848EDAR,RANBP2c.209G>A (p.Gly70Asp)
c.260G>A (p.Gly87Asp)
c.353G>A (p.Gly118Asp)
c.8370+156299C>T (n.8370+156299C>T)
 gnomAD v4
2g.108929346C>ACA348115849EDAR,RANBP2c.208G>T (p.Gly70Cys)
c.259G>T (p.Gly87Cys)
c.352G>T (p.Gly118Cys)
c.8370+156300C>A (n.8370+156300C>A)
2g.108929346C=CA1278368585EDAR,RANBP2c.208G= (p.Gly70=)
c.259G= (p.Gly87=)
c.352G= (p.Gly118=)
c.8370+156300C= (n.8370+156300C=)
2g.108929346C>GCA348115850EDAR,RANBP2c.208G>C (p.Gly70Arg)
c.259G>C (p.Gly87Arg)
c.352G>C (p.Gly118Arg)
c.8370+156300C>G (n.8370+156300C>G)
2g.108929346C>TCA1825153EDAR,RANBP2c.208G>A (p.Gly70Ser)
c.259G>A (p.Gly87Ser)
c.352G>A (p.Gly118Ser)
c.8370+156300C>T (n.8370+156300C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929346_108929347delinsCGCA1278368586EDAR,RANBP2c.207_208delinsCG (p.Tyr69=)
c.258_259delinsCG (p.Tyr86=)
c.351_352delinsCG (p.Tyr117=)
c.8370+156300_8370+156301delinsCG (n.8370+156300_8370+156301delinsCG)
2g.108929346_108929347insACA2660611277EDAR,RANBP2c.207_208insT (p.Gly70TrpfsTer25)
c.258_259insT (p.Gly87TrpfsTer25)
c.351_352insT (p.Gly118TrpfsTer25)
c.8370+156300_8370+156301insA (n.8370+156300_8370+156301insA)
 gnomAD v4
2g.108929347G>ACA249812EDAR,RANBP2c.207C>T (p.Tyr69=)
c.258C>T (p.Tyr86=)
c.351C>T (p.Tyr117=)
c.8370+156301G>A (n.8370+156301G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929347G>CCA348115851EDAR,RANBP2c.207C>G (p.Tyr69Ter)
c.258C>G (p.Tyr86Ter)
c.351C>G (p.Tyr117Ter)
c.8370+156301G>C (n.8370+156301G>C)
2g.108929347G=CA1278368587EDAR,RANBP2c.207C= (p.Tyr69=)
c.258C= (p.Tyr86=)
c.351C= (p.Tyr117=)
c.8370+156301G= (n.8370+156301G=)
2g.108929347G>TCA348115852EDAR,RANBP2c.207C>A (p.Tyr69Ter)
c.258C>A (p.Tyr86Ter)
c.351C>A (p.Tyr117Ter)
c.8370+156301G>T (n.8370+156301G>T)
2g.108929347delinsAACA913190037EDAR,RANBP2c.207delinsTT (p.Gly70TrpfsTer25)
c.258delinsTT (p.Gly87TrpfsTer25)
c.351delinsTT (p.Gly118TrpfsTer25)
c.8370+156301delinsAA (n.8370+156301delinsAA)
 ClinVar dbSNP
2g.108929348T>ACA348115853EDAR,RANBP2c.206A>T (p.Tyr69Phe)
c.257A>T (p.Tyr86Phe)
c.350A>T (p.Tyr117Phe)
c.8370+156302T>A (n.8370+156302T>A)
2g.108929348T>CCA348115854EDAR,RANBP2c.206A>G (p.Tyr69Cys)
c.257A>G (p.Tyr86Cys)
c.350A>G (p.Tyr117Cys)
c.8370+156302T>C (n.8370+156302T>C)
2g.108929348T>GCA348115855EDAR,RANBP2c.206A>C (p.Tyr69Ser)
c.257A>C (p.Tyr86Ser)
c.350A>C (p.Tyr117Ser)
c.8370+156302T>G (n.8370+156302T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108929348T=CA1278368588EDAR,RANBP2c.206A= (p.Tyr69=)
c.257A= (p.Tyr86=)
c.350A= (p.Tyr117=)
c.8370+156302T= (n.8370+156302T=)
2g.108929349A=CA1278368589EDAR,RANBP2c.205T= (p.Tyr69=)
c.256T= (p.Tyr86=)
c.349T= (p.Tyr117=)
c.8370+156303A= (n.8370+156303A=)
2g.108929349A>CCA348115858EDAR,RANBP2c.205T>G (p.Tyr69Asp)
c.256T>G (p.Tyr86Asp)
c.349T>G (p.Tyr117Asp)
c.8370+156303A>C (n.8370+156303A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929349A>GCA348115856EDAR,RANBP2c.205T>C (p.Tyr69His)
c.256T>C (p.Tyr86His)
c.349T>C (p.Tyr117His)
c.8370+156303A>G (n.8370+156303A>G)
2g.108929349A>TCA348115857EDAR,RANBP2c.205T>A (p.Tyr69Asn)
c.256T>A (p.Tyr86Asn)
c.349T>A (p.Tyr117Asn)
c.8370+156303A>T (n.8370+156303A>T)
 gnomAD v4
2g.108929349_108929350delinsAGCA1278368590EDAR,RANBP2c.204_205delinsCT (p.Asp68=)
c.255_256delinsCT (p.Asp85=)
c.348_349delinsCT (p.Asp116=)
c.8370+156303_8370+156304delinsAG (n.8370+156303_8370+156304delinsAG)
2g.108929350delCA1278368591EDAR,RANBP2c.204del (p.Tyr69ThrfsTer?)
c.255del (p.Tyr86ThrfsTer?)
c.348del (p.Tyr117ThrfsTer?)
c.8370+156304del (n.8370+156304del)
 ClinVar dbSNP
2g.108929350G>ACA428086889EDAR,RANBP2c.204C>T (p.Asp68=)
c.255C>T (p.Asp85=)
c.348C>T (p.Asp116=)
c.8370+156304G>A (n.8370+156304G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929350G>CCA348115859EDAR,RANBP2c.204C>G (p.Asp68Glu)
c.255C>G (p.Asp85Glu)
c.348C>G (p.Asp116Glu)
c.8370+156304G>C (n.8370+156304G>C)
2g.108929350G=CA1278368593EDAR,RANBP2c.204C= (p.Asp68=)
c.255C= (p.Asp85=)
c.348C= (p.Asp116=)
c.8370+156304G= (n.8370+156304G=)
2g.108929350G>TCA348115860EDAR,RANBP2c.204C>A (p.Asp68Glu)
c.255C>A (p.Asp85Glu)
c.348C>A (p.Asp116Glu)
c.8370+156304G>T (n.8370+156304G>T)
 gnomAD v4
2g.108929350_108929353delinsGTCCCA1278368592EDAR,RANBP2c.201_204delinsGGAC (p.Glu67=)
c.252_255delinsGGAC (p.Glu84=)
c.345_348delinsGGAC (p.Glu115=)
c.8370+156304_8370+156307delinsGTCC (n.8370+156304_8370+156307delinsGTCC)
2g.108929351T>ACA348115861EDAR,RANBP2c.203A>T (p.Asp68Val)
c.254A>T (p.Asp85Val)
c.347A>T (p.Asp116Val)
c.8370+156305T>A (n.8370+156305T>A)
2g.108929351T>CCA348115862EDAR,RANBP2c.203A>G (p.Asp68Gly)
c.254A>G (p.Asp85Gly)
c.347A>G (p.Asp116Gly)
c.8370+156305T>C (n.8370+156305T>C)
2g.108929351T>GCA348115863EDAR,RANBP2c.203A>C (p.Asp68Ala)
c.254A>C (p.Asp85Ala)
c.347A>C (p.Asp116Ala)
c.8370+156305T>G (n.8370+156305T>G)
2g.108929353_108929355delCA754906521EDAR,RANBP2c.201_203del (p.Glu67del)
c.252_254del (p.Glu84del)
c.345_347del (p.Glu115del)
c.8370+156307_8370+156309del (n.8370+156307_8370+156309del)
 dbSNP gnomAD v3 gnomAD v4
2g.108929352C>ACA348115864EDAR,RANBP2c.202G>T (p.Asp68Tyr)
c.253G>T (p.Asp85Tyr)
c.346G>T (p.Asp116Tyr)
c.8370+156306C>A (n.8370+156306C>A)
2g.108929352C>GCA348115865EDAR,RANBP2c.202G>C (p.Asp68His)
c.253G>C (p.Asp85His)
c.346G>C (p.Asp116His)
c.8370+156306C>G (n.8370+156306C>G)
2g.108929352C>TCA348115866EDAR,RANBP2c.202G>A (p.Asp68Asn)
c.253G>A (p.Asp85Asn)
c.346G>A (p.Asp116Asn)
c.8370+156306C>T (n.8370+156306C>T)
2g.108929352_108929353insTTCGTCTTTGGTGCCGTAGCCCA2580063722EDAR,RANBP2c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)
c.253_254insGCTACGGCACCAAAGACGAAG (p.Glu84_Asp85insGlyTyrGlyThrLysAspGlu)
c.346_347insGCTACGGCACCAAAGACGAAG (p.Glu115_Asp116insGlyTyrGlyThrLysAspGlu)
c.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC (n.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC)
 ClinVar
2g.108929353C>ACA348115867EDAR,RANBP2c.201G>T (p.Glu67Asp)
c.252G>T (p.Glu84Asp)
c.345G>T (p.Glu115Asp)
c.8370+156307C>A (n.8370+156307C>A)
2g.108929353C>GCA348115868EDAR,RANBP2c.201G>C (p.Glu67Asp)
c.252G>C (p.Glu84Asp)
c.345G>C (p.Glu115Asp)
c.8370+156307C>G (n.8370+156307C>G)
2g.108929353C>TCA428086893EDAR,RANBP2c.201G>A (p.Glu67=)
c.252G>A (p.Glu84=)
c.345G>A (p.Glu115=)
c.8370+156307C>T (n.8370+156307C>T)
2g.108929354T>ACA348115869EDAR,RANBP2c.200A>T (p.Glu67Val)
c.251A>T (p.Glu84Val)
c.344A>T (p.Glu115Val)
c.8370+156308T>A (n.8370+156308T>A)
2g.108929354T>CCA348115870EDAR,RANBP2c.200A>G (p.Glu67Gly)
c.251A>G (p.Glu84Gly)
c.344A>G (p.Glu115Gly)
c.8370+156308T>C (n.8370+156308T>C)
2g.108929354T>GCA348115871EDAR,RANBP2c.200A>C (p.Glu67Ala)
c.251A>C (p.Glu84Ala)
c.344A>C (p.Glu115Ala)
c.8370+156308T>G (n.8370+156308T>G)
2g.108929355C>ACA348115874EDAR,RANBP2c.199G>T (p.Glu67Ter)
c.250G>T (p.Glu84Ter)
c.343G>T (p.Glu115Ter)
c.8370+156309C>A (n.8370+156309C>A)
2g.108929355C=CA1278368594EDAR,RANBP2c.199G= (p.Glu67=)
c.250G= (p.Glu84=)
c.343G= (p.Glu115=)
c.8370+156309C= (n.8370+156309C=)
2g.108929355C>GCA348115872EDAR,RANBP2c.199G>C (p.Glu67Gln)
c.250G>C (p.Glu84Gln)
c.343G>C (p.Glu115Gln)
c.8370+156309C>G (n.8370+156309C>G)
2g.108929355C>TCA348115873EDAR,RANBP2c.199G>A (p.Glu67Lys)
c.250G>A (p.Glu84Lys)
c.343G>A (p.Glu115Lys)
c.8370+156309C>T (n.8370+156309C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929356G>ACA1825154EDAR,RANBP2c.198C>T (p.Asp66=)
c.249C>T (p.Asp83=)
c.342C>T (p.Asp114=)
c.8370+156310G>A (n.8370+156310G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929356G>CCA348115875EDAR,RANBP2c.198C>G (p.Asp66Glu)
c.249C>G (p.Asp83Glu)
c.342C>G (p.Asp114Glu)
c.8370+156310G>C (n.8370+156310G>C)
2g.108929356G=CA1278368595EDAR,RANBP2c.198C= (p.Asp66=)
c.249C= (p.Asp83=)
c.342C= (p.Asp114=)
c.8370+156310G= (n.8370+156310G=)
2g.108929356G>TCA348115876EDAR,RANBP2c.198C>A (p.Asp66Glu)
c.249C>A (p.Asp83Glu)
c.342C>A (p.Asp114Glu)
c.8370+156310G>T (n.8370+156310G>T)
2g.108929358_108929364delCA2660611278EDAR,RANBP2c.192_198del (p.Lys65ArgfsTer?)
c.243_249del (p.Lys82ArgfsTer?)
c.336_342del (p.Lys113ArgfsTer?)
c.8370+156312_8370+156318del (n.8370+156312_8370+156318del)
 gnomAD v4
2g.108929357T>ACA348115877EDAR,RANBP2c.197A>T (p.Asp66Val)
c.248A>T (p.Asp83Val)
c.341A>T (p.Asp114Val)
c.8370+156311T>A (n.8370+156311T>A)
 gnomAD v4
2g.108929357T>CCA348115878EDAR,RANBP2c.197A>G (p.Asp66Gly)
c.248A>G (p.Asp83Gly)
c.341A>G (p.Asp114Gly)
c.8370+156311T>C (n.8370+156311T>C)
 gnomAD v4
2g.108929357T>GCA348115879EDAR,RANBP2c.197A>C (p.Asp66Ala)
c.248A>C (p.Asp83Ala)
c.341A>C (p.Asp114Ala)
c.8370+156311T>G (n.8370+156311T>G)
2g.108929357T=CA1278368596EDAR,RANBP2c.197A= (p.Asp66=)
c.248A= (p.Asp83=)
c.341A= (p.Asp114=)
c.8370+156311T= (n.8370+156311T=)
2g.108929358C>ACA348115880EDAR,RANBP2c.196G>T (p.Asp66Tyr)
c.247G>T (p.Asp83Tyr)
c.340G>T (p.Asp114Tyr)
c.8370+156312C>A (n.8370+156312C>A)
2g.108929358C>GCA348115881EDAR,RANBP2c.196G>C (p.Asp66His)
c.247G>C (p.Asp83His)
c.340G>C (p.Asp114His)
c.8370+156312C>G (n.8370+156312C>G)
2g.108929358C>TCA348115882EDAR,RANBP2c.196G>A (p.Asp66Asn)
c.247G>A (p.Asp83Asn)
c.340G>A (p.Asp114Asn)
c.8370+156312C>T (n.8370+156312C>T)
2g.108929358dupCA1825155EDAR,RANBP2c.196dup (p.Asp66GlyfsTer29)
c.247dup (p.Asp83GlyfsTer29)
c.340dup (p.Asp114GlyfsTer29)
c.8370+156312dup (n.8370+156312dup)
 dbSNP ExAC
2g.108929359T>ACA348115883EDAR,RANBP2c.195A>T (p.Lys65Asn)
c.246A>T (p.Lys82Asn)
c.339A>T (p.Lys113Asn)
c.8370+156313T>A (n.8370+156313T>A)
2g.108929359T>CCA428086898EDAR,RANBP2c.195A>G (p.Lys65=)
c.246A>G (p.Lys82=)
c.339A>G (p.Lys113=)
c.8370+156313T>C (n.8370+156313T>C)
2g.108929359T>GCA348115884EDAR,RANBP2c.195A>C (p.Lys65Asn)
c.246A>C (p.Lys82Asn)
c.339A>C (p.Lys113Asn)
c.8370+156313T>G (n.8370+156313T>G)
2g.108929359T=CA1278368597EDAR,RANBP2c.195A= (p.Lys65=)
c.246A= (p.Lys82=)
c.339A= (p.Lys113=)
c.8370+156313T= (n.8370+156313T=)
2g.108929360T>ACA348115885EDAR,RANBP2c.194A>T (p.Lys65Ile)
c.245A>T (p.Lys82Ile)
c.338A>T (p.Lys113Ile)
c.8370+156314T>A (n.8370+156314T>A)
2g.108929360T>CCA348115887EDAR,RANBP2c.194A>G (p.Lys65Arg)
c.245A>G (p.Lys82Arg)
c.338A>G (p.Lys113Arg)
c.8370+156314T>C (n.8370+156314T>C)
2g.108929360T>GCA348115886EDAR,RANBP2c.194A>C (p.Lys65Thr)
c.245A>C (p.Lys82Thr)
c.338A>C (p.Lys113Thr)
c.8370+156314T>G (n.8370+156314T>G)
2g.108929360_108929361insAGCAAGCTACCATCA1825156EDAR,RANBP2c.194_195insTGGTAGCTTGCTA (p.Lys65AsnfsTer34)
c.245_246insTGGTAGCTTGCTA (p.Lys82AsnfsTer34)
c.338_339insTGGTAGCTTGCTA (p.Lys113AsnfsTer34)
c.8370+156314_8370+156315insAGCAAGCTACCAT (n.8370+156314_8370+156315insAGCAAGCTACCAT)
 dbSNP ExAC
2g.108929361T>ACA348115889EDAR,RANBP2c.193A>T (p.Lys65Ter)
c.244A>T (p.Lys82Ter)
c.337A>T (p.Lys113Ter)
c.8370+156315T>A (n.8370+156315T>A)
2g.108929361T>CCA348115888EDAR,RANBP2c.193A>G (p.Lys65Glu)
c.244A>G (p.Lys82Glu)
c.337A>G (p.Lys113Glu)
c.8370+156315T>C (n.8370+156315T>C)
2g.108929361T>GCA348115890EDAR,RANBP2c.193A>C (p.Lys65Gln)
c.244A>C (p.Lys82Gln)
c.337A>C (p.Lys113Gln)
c.8370+156315T>G (n.8370+156315T>G)

Number of alleles fetched