Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108930960_108930966delCA2577065792EDAR,RANBP2c.51+3_51+9del
c.102+3_102+9del
c.195+3_195+9del
c.8370+157914_8370+157920del (n.8370+157914_8370+157920del)
 gnomAD v4
2g.108930966C>ACA348116204EDAR,RANBP2c.49G>T (p.Val17Leu)
c.100G>T (p.Val34Leu)
c.193G>T (p.Val65Leu)
c.8370+157920C>A (n.8370+157920C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108930966C=CA1278369374EDAR,RANBP2c.49G= (p.Val17=)
c.100G= (p.Val34=)
c.193G= (p.Val65=)
c.8370+157920C= (n.8370+157920C=)
2g.108930966C>GCA348116205EDAR,RANBP2c.49G>C (p.Val17Leu)
c.100G>C (p.Val34Leu)
c.193G>C (p.Val65Leu)
c.8370+157920C>G (n.8370+157920C>G)
2g.108930966C>TCA348116206EDAR,RANBP2c.49G>A (p.Val17Met)
c.100G>A (p.Val34Met)
c.193G>A (p.Val65Met)
c.8370+157920C>T (n.8370+157920C>T)
 gnomAD v4
2g.108930967delCA2660611672EDAR,RANBP2c.49del (p.Val17TrpfsTer4)
c.100del (p.Val34TrpfsTer4)
c.193del (p.Val65TrpfsTer4)
c.8370+157921del (n.8370+157921del)
 gnomAD v4
2g.108930967C>ACA1825248EDAR,RANBP2c.48G>T (p.Leu16=)
c.99G>T (p.Leu33=)
c.192G>T (p.Leu64=)
c.8370+157921C>A (n.8370+157921C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930967C=CA1278369375EDAR,RANBP2c.48G= (p.Leu16=)
c.99G= (p.Leu33=)
c.192G= (p.Leu64=)
c.8370+157921C= (n.8370+157921C=)
2g.108930967C>GCA428087638EDAR,RANBP2c.48G>C (p.Leu16=)
c.99G>C (p.Leu33=)
c.192G>C (p.Leu64=)
c.8370+157921C>G (n.8370+157921C>G)
 gnomAD v4
2g.108930967C>TCA428087639EDAR,RANBP2c.48G>A (p.Leu16=)
c.99G>A (p.Leu33=)
c.192G>A (p.Leu64=)
c.8370+157921C>T (n.8370+157921C>T)
2g.108930968A>CCA348116209EDAR,RANBP2c.47T>G (p.Leu16Arg)
c.98T>G (p.Leu33Arg)
c.191T>G (p.Leu64Arg)
c.8370+157922A>C (n.8370+157922A>C)
2g.108930968A>GCA348116208EDAR,RANBP2c.47T>C (p.Leu16Pro)
c.98T>C (p.Leu33Pro)
c.191T>C (p.Leu64Pro)
c.8370+157922A>G (n.8370+157922A>G)
2g.108930968A>TCA348116207EDAR,RANBP2c.47T>A (p.Leu16Gln)
c.98T>A (p.Leu33Gln)
c.191T>A (p.Leu64Gln)
c.8370+157922A>T (n.8370+157922A>T)
2g.108930969G>ACA428087643EDAR,RANBP2c.46C>T (p.Leu16=)
c.97C>T (p.Leu33=)
c.190C>T (p.Leu64=)
c.8370+157923G>A (n.8370+157923G>A)
2g.108930969G>CCA348116210EDAR,RANBP2c.46C>G (p.Leu16Val)
c.97C>G (p.Leu33Val)
c.190C>G (p.Leu64Val)
c.8370+157923G>C (n.8370+157923G>C)
2g.108930969G>TCA348116211EDAR,RANBP2c.46C>A (p.Leu16Met)
c.97C>A (p.Leu33Met)
c.190C>A (p.Leu64Met)
c.8370+157923G>T (n.8370+157923G>T)
2g.108930970G>ACA428087648EDAR,RANBP2c.45C>T (p.Val15=)
c.96C>T (p.Val32=)
c.189C>T (p.Val63=)
c.8370+157924G>A (n.8370+157924G>A)
 gnomAD v4
2g.108930970G>CCA428087649EDAR,RANBP2c.45C>G (p.Val15=)
c.96C>G (p.Val32=)
c.189C>G (p.Val63=)
c.8370+157924G>C (n.8370+157924G>C)
2g.108930970G>TCA428087650EDAR,RANBP2c.45C>A (p.Val15=)
c.96C>A (p.Val32=)
c.189C>A (p.Val63=)
c.8370+157924G>T (n.8370+157924G>T)
2g.108930971A>CCA348116212EDAR,RANBP2c.44T>G (p.Val15Gly)
c.95T>G (p.Val32Gly)
c.188T>G (p.Val63Gly)
c.8370+157925A>C (n.8370+157925A>C)
2g.108930971A>GCA348116213EDAR,RANBP2c.44T>C (p.Val15Ala)
c.95T>C (p.Val32Ala)
c.188T>C (p.Val63Ala)
c.8370+157925A>G (n.8370+157925A>G)
2g.108930971A>TCA348116214EDAR,RANBP2c.44T>A (p.Val15Asp)
c.95T>A (p.Val32Asp)
c.188T>A (p.Val63Asp)
c.8370+157925A>T (n.8370+157925A>T)
2g.108930972C>ACA348116215EDAR,RANBP2c.43G>T (p.Val15Phe)
c.94G>T (p.Val32Phe)
c.187G>T (p.Val63Phe)
c.8370+157926C>A (n.8370+157926C>A)
2g.108930972C=CA1278369376EDAR,RANBP2c.43G= (p.Val15=)
c.94G= (p.Val32=)
c.187G= (p.Val63=)
c.8370+157926C= (n.8370+157926C=)
2g.108930972C>GCA348116216EDAR,RANBP2c.43G>C (p.Val15Leu)
c.94G>C (p.Val32Leu)
c.187G>C (p.Val63Leu)
c.8370+157926C>G (n.8370+157926C>G)
 gnomAD v4
2g.108930972C>TCA1825249EDAR,RANBP2c.43G>A (p.Val15Ile)
c.94G>A (p.Val32Ile)
c.187G>A (p.Val63Ile)
c.8370+157926C>T (n.8370+157926C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930973G>ACA1825250EDAR,RANBP2c.42C>T (p.Pro14=)
c.93C>T (p.Pro31=)
c.186C>T (p.Pro62=)
c.8370+157927G>A (n.8370+157927G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930973G>CCA1825251EDAR,RANBP2c.42C>G (p.Pro14=)
c.93C>G (p.Pro31=)
c.186C>G (p.Pro62=)
c.8370+157927G>C (n.8370+157927G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930973G=CA1278369377EDAR,RANBP2c.42C= (p.Pro14=)
c.93C= (p.Pro31=)
c.186C= (p.Pro62=)
c.8370+157927G= (n.8370+157927G=)
2g.108930973G>TCA428087655EDAR,RANBP2c.42C>A (p.Pro14=)
c.93C>A (p.Pro31=)
c.186C>A (p.Pro62=)
c.8370+157927G>T (n.8370+157927G>T)
2g.108930974G>ACA348116217EDAR,RANBP2c.41C>T (p.Pro14Leu)
c.92C>T (p.Pro31Leu)
c.185C>T (p.Pro62Leu)
c.8370+157928G>A (n.8370+157928G>A)
2g.108930974G>CCA348116218EDAR,RANBP2c.41C>G (p.Pro14Arg)
c.92C>G (p.Pro31Arg)
c.185C>G (p.Pro62Arg)
c.8370+157928G>C (n.8370+157928G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108930974G=CA1278369378EDAR,RANBP2c.41C= (p.Pro14=)
c.92C= (p.Pro31=)
c.185C= (p.Pro62=)
c.8370+157928G= (n.8370+157928G=)
2g.108930974G>TCA348116219EDAR,RANBP2c.41C>A (p.Pro14His)
c.92C>A (p.Pro31His)
c.185C>A (p.Pro62His)
c.8370+157928G>T (n.8370+157928G>T)
2g.108930975G>ACA348116221EDAR,RANBP2c.40C>T (p.Pro14Ser)
c.91C>T (p.Pro31Ser)
c.184C>T (p.Pro62Ser)
c.8370+157929G>A (n.8370+157929G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108930975G>CCA348116222EDAR,RANBP2c.40C>G (p.Pro14Ala)
c.91C>G (p.Pro31Ala)
c.184C>G (p.Pro62Ala)
c.8370+157929G>C (n.8370+157929G>C)
2g.108930975G=CA1278369379EDAR,RANBP2c.40C= (p.Pro14=)
c.91C= (p.Pro31=)
c.184C= (p.Pro62=)
c.8370+157929G= (n.8370+157929G=)
2g.108930975G>TCA348116220EDAR,RANBP2c.40C>A (p.Pro14Thr)
c.91C>A (p.Pro31Thr)
c.184C>A (p.Pro62Thr)
c.8370+157929G>T (n.8370+157929G>T)
2g.108930976G>ACA428087663EDAR,RANBP2c.39C>T (p.Leu13=)
c.90C>T (p.Leu30=)
c.183C>T (p.Leu61=)
c.8370+157930G>A (n.8370+157930G>A)
2g.108930976G>CCA428087666EDAR,RANBP2c.39C>G (p.Leu13=)
c.90C>G (p.Leu30=)
c.183C>G (p.Leu61=)
c.8370+157930G>C (n.8370+157930G>C)
2g.108930976G>TCA428087667EDAR,RANBP2c.39C>A (p.Leu13=)
c.90C>A (p.Leu30=)
c.183C>A (p.Leu61=)
c.8370+157930G>T (n.8370+157930G>T)
 COSMIC COSMIC
2g.108930977A>CCA348116223EDAR,RANBP2c.38T>G (p.Leu13Arg)
c.89T>G (p.Leu30Arg)
c.182T>G (p.Leu61Arg)
c.8370+157931A>C (n.8370+157931A>C)
2g.108930977A>GCA348116224EDAR,RANBP2c.38T>C (p.Leu13Pro)
c.89T>C (p.Leu30Pro)
c.182T>C (p.Leu61Pro)
c.8370+157931A>G (n.8370+157931A>G)
2g.108930977A>TCA348116225EDAR,RANBP2c.38T>A (p.Leu13His)
c.89T>A (p.Leu30His)
c.182T>A (p.Leu61His)
c.8370+157931A>T (n.8370+157931A>T)
2g.108930978G>ACA348116226EDAR,RANBP2c.37C>T (p.Leu13Phe)
c.88C>T (p.Leu30Phe)
c.181C>T (p.Leu61Phe)
c.8370+157932G>A (n.8370+157932G>A)
2g.108930978G>CCA348116227EDAR,RANBP2c.37C>G (p.Leu13Val)
c.88C>G (p.Leu30Val)
c.181C>G (p.Leu61Val)
c.8370+157932G>C (n.8370+157932G>C)
2g.108930978G>TCA348116228EDAR,RANBP2c.37C>A (p.Leu13Ile)
c.88C>A (p.Leu30Ile)
c.181C>A (p.Leu61Ile)
c.8370+157932G>T (n.8370+157932G>T)
2g.108930979C>ACA348116229EDAR,RANBP2c.36G>T (p.Trp12Cys)
c.87G>T (p.Trp29Cys)
c.180G>T (p.Trp60Cys)
c.8370+157933C>A (n.8370+157933C>A)
2g.108930979C=CA1278369380EDAR,RANBP2c.36G= (p.Trp12=)
c.87G= (p.Trp29=)
c.180G= (p.Trp60=)
c.8370+157933C= (n.8370+157933C=)
2g.108930979C>GCA348116230EDAR,RANBP2c.36G>C (p.Trp12Cys)
c.87G>C (p.Trp29Cys)
c.180G>C (p.Trp60Cys)
c.8370+157933C>G (n.8370+157933C>G)
 gnomAD v4

Number of alleles fetched