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.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)

Number of alleles fetched