Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.108930979C>TCA1825252EDAR,RANBP2c.36G>A (p.Trp12Ter)
c.87G>A (p.Trp29Ter)
c.180G>A (p.Trp60Ter)
c.8370+157933C>T (n.8370+157933C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108930980C>ACA348116231EDAR,RANBP2c.35G>T (p.Trp12Leu)
c.86G>T (p.Trp29Leu)
c.179G>T (p.Trp60Leu)
c.8370+157934C>A (n.8370+157934C>A)
2g.108930980C>GCA348116232EDAR,RANBP2c.35G>C (p.Trp12Ser)
c.86G>C (p.Trp29Ser)
c.179G>C (p.Trp60Ser)
c.8370+157934C>G (n.8370+157934C>G)
2g.108930980C>TCA348116233EDAR,RANBP2c.35G>A (p.Trp12Ter)
c.86G>A (p.Trp29Ter)
c.179G>A (p.Trp60Ter)
c.8370+157934C>T (n.8370+157934C>T)
2g.108930981A>CCA348116234EDAR,RANBP2c.34T>G (p.Trp12Gly)
c.85T>G (p.Trp29Gly)
c.178T>G (p.Trp60Gly)
c.8370+157935A>C (n.8370+157935A>C)
2g.108930981A>GCA348116235EDAR,RANBP2c.34T>C (p.Trp12Arg)
c.85T>C (p.Trp29Arg)
c.178T>C (p.Trp60Arg)
c.8370+157935A>G (n.8370+157935A>G)
2g.108930981A>TCA348116236EDAR,RANBP2c.34T>A (p.Trp12Arg)
c.85T>A (p.Trp29Arg)
c.178T>A (p.Trp60Arg)
c.8370+157935A>T (n.8370+157935A>T)
2g.108930982G>ACA428087686EDAR,RANBP2c.33C>T (p.Pro11=)
c.84C>T (p.Pro28=)
c.177C>T (p.Pro59=)
c.8370+157936G>A (n.8370+157936G>A)
2g.108930982G>CCA1825253EDAR,RANBP2c.33C>G (p.Pro11=)
c.84C>G (p.Pro28=)
c.177C>G (p.Pro59=)
c.8370+157936G>C (n.8370+157936G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108930982G=CA1278369381EDAR,RANBP2c.33C= (p.Pro11=)
c.84C= (p.Pro28=)
c.177C= (p.Pro59=)
c.8370+157936G= (n.8370+157936G=)
2g.108930982G>TCA428087687EDAR,RANBP2c.33C>A (p.Pro11=)
c.84C>A (p.Pro28=)
c.177C>A (p.Pro59=)
c.8370+157936G>T (n.8370+157936G>T)
2g.108930983G>ACA348116239EDAR,RANBP2c.32C>T (p.Pro11Leu)
c.83C>T (p.Pro28Leu)
c.176C>T (p.Pro59Leu)
c.8370+157937G>A (n.8370+157937G>A)
 COSMIC COSMIC
2g.108930983G>CCA348116237EDAR,RANBP2c.32C>G (p.Pro11Arg)
c.83C>G (p.Pro28Arg)
c.176C>G (p.Pro59Arg)
c.8370+157937G>C (n.8370+157937G>C)
2g.108930983G>TCA348116238EDAR,RANBP2c.32C>A (p.Pro11His)
c.83C>A (p.Pro28His)
c.176C>A (p.Pro59His)
c.8370+157937G>T (n.8370+157937G>T)
 gnomAD v4
2g.108930984G>ACA348116240EDAR,RANBP2c.31C>T (p.Pro11Ser)
c.82C>T (p.Pro28Ser)
c.175C>T (p.Pro59Ser)
c.8370+157938G>A (n.8370+157938G>A)
2g.108930984G>CCA348116241EDAR,RANBP2c.31C>G (p.Pro11Ala)
c.82C>G (p.Pro28Ala)
c.175C>G (p.Pro59Ala)
c.8370+157938G>C (n.8370+157938G>C)
2g.108930984G=CA1278369382EDAR,RANBP2c.31C= (p.Pro11=)
c.82C= (p.Pro28=)
c.175C= (p.Pro59=)
c.8370+157938G= (n.8370+157938G=)
2g.108930984G>TCA348116242EDAR,RANBP2c.31C>A (p.Pro11Thr)
c.82C>A (p.Pro28Thr)
c.175C>A (p.Pro59Thr)
c.8370+157938G>T (n.8370+157938G>T)
 dbSNP gnomAD v4
2g.108930985C>ACA428087695EDAR,RANBP2c.30G>T (p.Thr10=)
c.81G>T (p.Thr27=)
c.174G>T (p.Thr58=)
c.8370+157939C>A (n.8370+157939C>A)
2g.108930985C=CA1278369383EDAR,RANBP2c.30G= (p.Thr10=)
c.81G= (p.Thr27=)
c.174G= (p.Thr58=)
c.8370+157939C= (n.8370+157939C=)
2g.108930985C>GCA428087696EDAR,RANBP2c.30G>C (p.Thr10=)
c.81G>C (p.Thr27=)
c.174G>C (p.Thr58=)
c.8370+157939C>G (n.8370+157939C>G)
2g.108930985C>TCA1825254EDAR,RANBP2c.30G>A (p.Thr10=)
c.81G>A (p.Thr27=)
c.174G>A (p.Thr58=)
c.8370+157939C>T (n.8370+157939C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108930986G>ACA1825255EDAR,RANBP2c.29C>T (p.Thr10Met)
c.80C>T (p.Thr27Met)
c.173C>T (p.Thr58Met)
c.8370+157940G>A (n.8370+157940G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108930986G>CCA348116243EDAR,RANBP2c.29C>G (p.Thr10Arg)
c.80C>G (p.Thr27Arg)
c.173C>G (p.Thr58Arg)
c.8370+157940G>C (n.8370+157940G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108930986G=CA1278369384EDAR,RANBP2c.29C= (p.Thr10=)
c.80C= (p.Thr27=)
c.173C= (p.Thr58=)
c.8370+157940G= (n.8370+157940G=)
2g.108930986G>TCA348116244EDAR,RANBP2c.29C>A (p.Thr10Lys)
c.80C>A (p.Thr27Lys)
c.173C>A (p.Thr58Lys)
c.8370+157940G>T (n.8370+157940G>T)
2g.108930987T>ACA348116245EDAR,RANBP2c.28A>T (p.Thr10Ser)
c.79A>T (p.Thr27Ser)
c.172A>T (p.Thr58Ser)
c.8370+157941T>A (n.8370+157941T>A)
2g.108930987T>CCA348116246EDAR,RANBP2c.28A>G (p.Thr10Ala)
c.79A>G (p.Thr27Ala)
c.172A>G (p.Thr58Ala)
c.8370+157941T>C (n.8370+157941T>C)
2g.108930987T>GCA348116247EDAR,RANBP2c.28A>C (p.Thr10Pro)
c.79A>C (p.Thr27Pro)
c.172A>C (p.Thr58Pro)
c.8370+157941T>G (n.8370+157941T>G)
2g.108930988C>ACA348116248EDAR,RANBP2c.27G>T (p.Gln9His)
c.78G>T (p.Gln26His)
c.171G>T (p.Gln57His)
c.8370+157942C>A (n.8370+157942C>A)
2g.108930988C>GCA348116249EDAR,RANBP2c.27G>C (p.Gln9His)
c.78G>C (p.Gln26His)
c.171G>C (p.Gln57His)
c.8370+157942C>G (n.8370+157942C>G)
2g.108930988C>TCA428087705EDAR,RANBP2c.27G>A (p.Gln9=)
c.78G>A (p.Gln26=)
c.171G>A (p.Gln57=)
c.8370+157942C>T (n.8370+157942C>T)
2g.108930989T>ACA348116250EDAR,RANBP2c.26A>T (p.Gln9Leu)
c.77A>T (p.Gln26Leu)
c.170A>T (p.Gln57Leu)
c.8370+157943T>A (n.8370+157943T>A)
2g.108930989T>CCA348116252EDAR,RANBP2c.26A>G (p.Gln9Arg)
c.77A>G (p.Gln26Arg)
c.170A>G (p.Gln57Arg)
c.8370+157943T>C (n.8370+157943T>C)
2g.108930989T>GCA348116251EDAR,RANBP2c.26A>C (p.Gln9Pro)
c.77A>C (p.Gln26Pro)
c.170A>C (p.Gln57Pro)
c.8370+157943T>G (n.8370+157943T>G)
2g.108930990G>ACA1825256EDAR,RANBP2c.25C>T (p.Gln9Ter)
c.76C>T (p.Gln26Ter)
c.169C>T (p.Gln57Ter)
c.8370+157944G>A (n.8370+157944G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930990G>CCA348116253EDAR,RANBP2c.25C>G (p.Gln9Glu)
c.76C>G (p.Gln26Glu)
c.169C>G (p.Gln57Glu)
c.8370+157944G>C (n.8370+157944G>C)
2g.108930990G=CA1278369385EDAR,RANBP2c.25C= (p.Gln9=)
c.76C= (p.Gln26=)
c.169C= (p.Gln57=)
c.8370+157944G= (n.8370+157944G=)
2g.108930990G>TCA348116254EDAR,RANBP2c.25C>A (p.Gln9Lys)
c.76C>A (p.Gln26Lys)
c.169C>A (p.Gln57Lys)
c.8370+157944G>T (n.8370+157944G>T)
2g.108930991C>ACA1825258EDAR,RANBP2c.24G>T (p.Thr8=)
c.75G>T (p.Thr25=)
c.168G>T (p.Thr56=)
c.8370+157945C>A (n.8370+157945C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108930991C=CA1278369386EDAR,RANBP2c.24G= (p.Thr8=)
c.75G= (p.Thr25=)
c.168G= (p.Thr56=)
c.8370+157945C= (n.8370+157945C=)
2g.108930991C>GCA428087715EDAR,RANBP2c.24G>C (p.Thr8=)
c.75G>C (p.Thr25=)
c.168G>C (p.Thr56=)
c.8370+157945C>G (n.8370+157945C>G)
 COSMIC COSMIC
2g.108930991C>TCA1825257EDAR,RANBP2c.24G>A (p.Thr8=)
c.75G>A (p.Thr25=)
c.168G>A (p.Thr56=)
c.8370+157945C>T (n.8370+157945C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108930992G>ACA1825259EDAR,RANBP2c.23C>T (p.Thr8Met)
c.74C>T (p.Thr25Met)
c.167C>T (p.Thr56Met)
c.8370+157946G>A (n.8370+157946G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108930992G>CCA348116255EDAR,RANBP2c.23C>G (p.Thr8Arg)
c.74C>G (p.Thr25Arg)
c.167C>G (p.Thr56Arg)
c.8370+157946G>C (n.8370+157946G>C)
2g.108930992G=CA1278369387EDAR,RANBP2c.23C= (p.Thr8=)
c.74C= (p.Thr25=)
c.167C= (p.Thr56=)
c.8370+157946G= (n.8370+157946G=)
2g.108930992G>TCA54012343EDAR,RANBP2c.23C>A (p.Thr8Lys)
c.74C>A (p.Thr25Lys)
c.167C>A (p.Thr56Lys)
c.8370+157946G>T (n.8370+157946G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108930993T>ACA348116256EDAR,RANBP2c.22A>T (p.Thr8Ser)
c.73A>T (p.Thr25Ser)
c.166A>T (p.Thr56Ser)
c.8370+157947T>A (n.8370+157947T>A)
2g.108930993T>CCA348116257EDAR,RANBP2c.22A>G (p.Thr8Ala)
c.73A>G (p.Thr25Ala)
c.166A>G (p.Thr56Ala)
c.8370+157947T>C (n.8370+157947T>C)
2g.108930993T>GCA348116258EDAR,RANBP2c.22A>C (p.Thr8Pro)
c.73A>C (p.Thr25Pro)
c.166A>C (p.Thr56Pro)
c.8370+157947T>G (n.8370+157947T>G)
2g.108930994G>ACA428087726EDAR,RANBP2c.21C>T (p.Cys7=)
c.72C>T (p.Cys24=)
c.165C>T (p.Cys55=)
c.8370+157948G>A (n.8370+157948G>A)
2g.108930994G>CCA348116259EDAR,RANBP2c.21C>G (p.Cys7Trp)
c.72C>G (p.Cys24Trp)
c.165C>G (p.Cys55Trp)
c.8370+157948G>C (n.8370+157948G>C)
2g.108930994G>TCA348116260EDAR,RANBP2c.21C>A (p.Cys7Ter)
c.72C>A (p.Cys24Ter)
c.165C>A (p.Cys55Ter)
c.8370+157948G>T (n.8370+157948G>T)
2g.108930995C>ACA348116263EDAR,RANBP2c.20G>T (p.Cys7Phe)
c.71G>T (p.Cys24Phe)
c.164G>T (p.Cys55Phe)
c.8370+157949C>A (n.8370+157949C>A)
2g.108930995C>GCA348116261EDAR,RANBP2c.20G>C (p.Cys7Ser)
c.71G>C (p.Cys24Ser)
c.164G>C (p.Cys55Ser)
c.8370+157949C>G (n.8370+157949C>G)
2g.108930995C>TCA348116262EDAR,RANBP2c.20G>A (p.Cys7Tyr)
c.71G>A (p.Cys24Tyr)
c.164G>A (p.Cys55Tyr)
c.8370+157949C>T (n.8370+157949C>T)
2g.108930996A=CA1278369388EDAR,RANBP2c.19T= (p.Cys7=)
c.70T= (p.Cys24=)
c.163T= (p.Cys55=)
c.8370+157950A= (n.8370+157950A=)
2g.108930996A>CCA348116264EDAR,RANBP2c.19T>G (p.Cys7Gly)
c.70T>G (p.Cys24Gly)
c.163T>G (p.Cys55Gly)
c.8370+157950A>C (n.8370+157950A>C)
2g.108930996A>GCA348116265EDAR,RANBP2c.19T>C (p.Cys7Arg)
c.70T>C (p.Cys24Arg)
c.163T>C (p.Cys55Arg)
c.8370+157950A>G (n.8370+157950A>G)
2g.108930996A>TCA1825260EDAR,RANBP2c.19T>A (p.Cys7Ser)
c.70T>A (p.Cys24Ser)
c.163T>A (p.Cys55Ser)
c.8370+157950A>T (n.8370+157950A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108930997G>ACA428087735EDAR,RANBP2c.18C>T (p.Asp6=)
c.69C>T (p.Asp23=)
c.162C>T (p.Asp54=)
c.8370+157951G>A (n.8370+157951G>A)
 gnomAD v4
2g.108930997G>CCA348116266EDAR,RANBP2c.18C>G (p.Asp6Glu)
c.69C>G (p.Asp23Glu)
c.162C>G (p.Asp54Glu)
c.8370+157951G>C (n.8370+157951G>C)
2g.108930997G>TCA348116267EDAR,RANBP2c.18C>A (p.Asp6Glu)
c.69C>A (p.Asp23Glu)
c.162C>A (p.Asp54Glu)
c.8370+157951G>T (n.8370+157951G>T)
2g.108930998T>ACA348116268EDAR,RANBP2c.17A>T (p.Asp6Val)
c.68A>T (p.Asp23Val)
c.161A>T (p.Asp54Val)
c.8370+157952T>A (n.8370+157952T>A)
2g.108930998T>CCA348116269EDAR,RANBP2c.17A>G (p.Asp6Gly)
c.68A>G (p.Asp23Gly)
c.161A>G (p.Asp54Gly)
c.8370+157952T>C (n.8370+157952T>C)
2g.108930998T>GCA348116270EDAR,RANBP2c.17A>C (p.Asp6Ala)
c.68A>C (p.Asp23Ala)
c.161A>C (p.Asp54Ala)
c.8370+157952T>G (n.8370+157952T>G)
2g.108930998dupCA2577065794EDAR,RANBP2c.17dup (p.Asp6GlufsTer28)
c.68dup (p.Asp23GlufsTer28)
c.161dup (p.Asp54GlufsTer28)
c.8370+157952dup (n.8370+157952dup)
2g.108930999C>ACA1825261EDAR,RANBP2c.16G>T (p.Asp6Tyr)
c.67G>T (p.Asp23Tyr)
c.160G>T (p.Asp54Tyr)
c.8370+157953C>A (n.8370+157953C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108930999C=CA1278369389EDAR,RANBP2c.16G= (p.Asp6=)
c.67G= (p.Asp23=)
c.160G= (p.Asp54=)
c.8370+157953C= (n.8370+157953C=)
2g.108930999C>GCA348116271EDAR,RANBP2c.16G>C (p.Asp6His)
c.67G>C (p.Asp23His)
c.160G>C (p.Asp54His)
c.8370+157953C>G (n.8370+157953C>G)
2g.108930999C>TCA348116272EDAR,RANBP2c.16G>A (p.Asp6Asn)
c.67G>A (p.Asp23Asn)
c.160G>A (p.Asp54Asn)
c.8370+157953C>T (n.8370+157953C>T)
 gnomAD v4
2g.108931000C>ACA428087741EDAR,RANBP2c.15G>T (p.Gly5=)
c.66G>T (p.Gly22=)
c.159G>T (p.Gly53=)
c.8370+157954C>A (n.8370+157954C>A)
2g.108931000C=CA1278369390EDAR,RANBP2c.15G= (p.Gly5=)
c.66G= (p.Gly22=)
c.159G= (p.Gly53=)
c.8370+157954C= (n.8370+157954C=)
2g.108931000C>GCA1825262EDAR,RANBP2c.15G>C (p.Gly5=)
c.66G>C (p.Gly22=)
c.159G>C (p.Gly53=)
c.8370+157954C>G (n.8370+157954C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108931000C>TCA428087743EDAR,RANBP2c.15G>A (p.Gly5=)
c.66G>A (p.Gly22=)
c.159G>A (p.Gly53=)
c.8370+157954C>T (n.8370+157954C>T)
2g.108931001C>ACA348116273EDAR,RANBP2c.14G>T (p.Gly5Val)
c.65G>T (p.Gly22Val)
c.158G>T (p.Gly53Val)
c.8370+157955C>A (n.8370+157955C>A)
2g.108931001C>GCA348116275EDAR,RANBP2c.14G>C (p.Gly5Ala)
c.65G>C (p.Gly22Ala)
c.158G>C (p.Gly53Ala)
c.8370+157955C>G (n.8370+157955C>G)
2g.108931001C>TCA348116274EDAR,RANBP2c.14G>A (p.Gly5Glu)
c.65G>A (p.Gly22Glu)
c.158G>A (p.Gly53Glu)
c.8370+157955C>T (n.8370+157955C>T)
2g.108931002C>ACA348116276EDAR,RANBP2c.13G>T (p.Gly5Trp)
c.64G>T (p.Gly22Trp)
c.157G>T (p.Gly53Trp)
c.8370+157956C>A (n.8370+157956C>A)
2g.108931002C=CA1278369391EDAR,RANBP2c.13G= (p.Gly5=)
c.64G= (p.Gly22=)
c.157G= (p.Gly53=)
c.8370+157956C= (n.8370+157956C=)
2g.108931002C>GCA348116277EDAR,RANBP2c.13G>C (p.Gly5Arg)
c.64G>C (p.Gly22Arg)
c.157G>C (p.Gly53Arg)
c.8370+157956C>G (n.8370+157956C>G)
2g.108931002C>TCA1825263EDAR,RANBP2c.13G>A (p.Gly5Arg)
c.64G>A (p.Gly22Arg)
c.157G>A (p.Gly53Arg)
c.8370+157956C>T (n.8370+157956C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108931003C>ACA428087751EDAR,RANBP2c.12G>T (p.Val4=)
c.63G>T (p.Val21=)
c.156G>T (p.Val52=)
c.8370+157957C>A (n.8370+157957C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931003C=CA1278369392EDAR,RANBP2c.12G= (p.Val4=)
c.63G= (p.Val21=)
c.156G= (p.Val52=)
c.8370+157957C= (n.8370+157957C=)
2g.108931003C>GCA428087752EDAR,RANBP2c.12G>C (p.Val4=)
c.63G>C (p.Val21=)
c.156G>C (p.Val52=)
c.8370+157957C>G (n.8370+157957C>G)
 gnomAD v4
2g.108931003C>TCA1825264EDAR,RANBP2c.12G>A (p.Val4=)
c.63G>A (p.Val21=)
c.156G>A (p.Val52=)
c.8370+157957C>T (n.8370+157957C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108931005_108931006delCA2660611673EDAR,RANBP2c.11_12del (p.Val4GlyfsTer29)
c.62_63del (p.Val21GlyfsTer29)
c.155_156del (p.Val52GlyfsTer29)
c.8370+157959_8370+157960del (n.8370+157959_8370+157960del)
 gnomAD v4
2g.108931004A=CA1278369393EDAR,RANBP2c.11T= (p.Val4=)
c.62T= (p.Val21=)
c.155T= (p.Val52=)
c.8370+157958A= (n.8370+157958A=)
2g.108931004A>CCA348116278EDAR,RANBP2c.11T>G (p.Val4Gly)
c.62T>G (p.Val21Gly)
c.155T>G (p.Val52Gly)
c.8370+157958A>C (n.8370+157958A>C)
2g.108931004A>GCA348116279EDAR,RANBP2c.11T>C (p.Val4Ala)
c.62T>C (p.Val21Ala)
c.155T>C (p.Val52Ala)
c.8370+157958A>G (n.8370+157958A>G)
 dbSNP gnomAD v4
2g.108931004A>TCA348116280EDAR,RANBP2c.11T>A (p.Val4Glu)
c.62T>A (p.Val21Glu)
c.155T>A (p.Val52Glu)
c.8370+157958A>T (n.8370+157958A>T)
2g.108931005C>ACA348116281EDAR,RANBP2c.10G>T (p.Val4Leu)
c.61G>T (p.Val21Leu)
c.154G>T (p.Val52Leu)
c.8370+157959C>A (n.8370+157959C>A)
2g.108931005C=CA1278369394EDAR,RANBP2c.10G= (p.Val4=)
c.61G= (p.Val21=)
c.154G= (p.Val52=)
c.8370+157959C= (n.8370+157959C=)
2g.108931005C>GCA54012344EDAR,RANBP2c.10G>C (p.Val4Leu)
c.61G>C (p.Val21Leu)
c.154G>C (p.Val52Leu)
c.8370+157959C>G (n.8370+157959C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108931005C>TCA348116282EDAR,RANBP2c.10G>A (p.Val4Met)
c.61G>A (p.Val21Met)
c.154G>A (p.Val52Met)
c.8370+157959C>T (n.8370+157959C>T)
2g.108931006A=CA1278369395EDAR,RANBP2c.9T= (p.His3=)
c.60T= (p.His20=)
c.153T= (p.His51=)
c.8370+157960A= (n.8370+157960A=)
2g.108931006A>CCA348116283EDAR,RANBP2c.9T>G (p.His3Gln)
c.60T>G (p.His20Gln)
c.153T>G (p.His51Gln)
c.8370+157960A>C (n.8370+157960A>C)
2g.108931006A>GCA1825265EDAR,RANBP2c.9T>C (p.His3=)
c.60T>C (p.His20=)
c.153T>C (p.His51=)
c.8370+157960A>G (n.8370+157960A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931006A>TCA348116284EDAR,RANBP2c.9T>A (p.His3Gln)
c.60T>A (p.His20Gln)
c.153T>A (p.His51Gln)
c.8370+157960A>T (n.8370+157960A>T)
2g.108931007T>ACA348116287EDAR,RANBP2c.8A>T (p.His3Leu)
c.59A>T (p.His20Leu)
c.152A>T (p.His51Leu)
c.8370+157961T>A (n.8370+157961T>A)
2g.108931007T>CCA348116286EDAR,RANBP2c.8A>G (p.His3Arg)
c.59A>G (p.His20Arg)
c.152A>G (p.His51Arg)
c.8370+157961T>C (n.8370+157961T>C)
2g.108931007T>GCA348116285EDAR,RANBP2c.8A>C (p.His3Pro)
c.59A>C (p.His20Pro)
c.152A>C (p.His51Pro)
c.8370+157961T>G (n.8370+157961T>G)
2g.108931008G>ACA348116288EDAR,RANBP2c.7C>T (p.His3Tyr)
c.58C>T (p.His20Tyr)
c.151C>T (p.His51Tyr)
c.8370+157962G>A (n.8370+157962G>A)
 dbSNP
2g.108931008G>CCA348116289EDAR,RANBP2c.7C>G (p.His3Asp)
c.58C>G (p.His20Asp)
c.151C>G (p.His51Asp)
c.8370+157962G>C (n.8370+157962G>C)
2g.108931008G=CA1278369396EDAR,RANBP2c.7C= (p.His3=)
c.58C= (p.His20=)
c.151C= (p.His51=)
c.8370+157962G= (n.8370+157962G=)
2g.108931008G>TCA348116290EDAR,RANBP2c.7C>A (p.His3Asn)
c.58C>A (p.His20Asn)
c.151C>A (p.His51Asn)
c.8370+157962G>T (n.8370+157962G>T)
2g.108931009G>ACA428087771EDAR,RANBP2c.6C>T (p.Ala2=)
c.57C>T (p.Ala19=)
c.150C>T (p.Ala50=)
c.8370+157963G>A (n.8370+157963G>A)
2g.108931009G>CCA428087774EDAR,RANBP2c.6C>G (p.Ala2=)
c.57C>G (p.Ala19=)
c.150C>G (p.Ala50=)
c.8370+157963G>C (n.8370+157963G>C)
2g.108931009G>TCA428087775EDAR,RANBP2c.6C>A (p.Ala2=)
c.57C>A (p.Ala19=)
c.150C>A (p.Ala50=)
c.8370+157963G>T (n.8370+157963G>T)
2g.108931010G>ACA348116291EDAR,RANBP2c.5C>T (p.Ala2Val)
c.56C>T (p.Ala19Val)
c.149C>T (p.Ala50Val)
c.8370+157964G>A (n.8370+157964G>A)
2g.108931010G>CCA348116292EDAR,RANBP2c.5C>G (p.Ala2Gly)
c.56C>G (p.Ala19Gly)
c.149C>G (p.Ala50Gly)
c.8370+157964G>C (n.8370+157964G>C)
2g.108931010G>TCA348116293EDAR,RANBP2c.5C>A (p.Ala2Asp)
c.56C>A (p.Ala19Asp)
c.149C>A (p.Ala50Asp)
c.8370+157964G>T (n.8370+157964G>T)
 gnomAD v4
2g.108931011C>ACA348116294EDAR,RANBP2c.4G>T (p.Ala2Ser)
c.55G>T (p.Ala19Ser)
c.148G>T (p.Ala50Ser)
c.8370+157965C>A (n.8370+157965C>A)
2g.108931011C=CA1278369397EDAR,RANBP2c.4G= (p.Ala2=)
c.55G= (p.Ala19=)
c.148G= (p.Ala50=)
c.8370+157965C= (n.8370+157965C=)
2g.108931011C>GCA348116295EDAR,RANBP2c.4G>C (p.Ala2Pro)
c.55G>C (p.Ala19Pro)
c.148G>C (p.Ala50Pro)
c.8370+157965C>G (n.8370+157965C>G)
2g.108931011C>TCA348116296EDAR,RANBP2c.4G>A (p.Ala2Thr)
c.55G>A (p.Ala19Thr)
c.148G>A (p.Ala50Thr)
c.8370+157965C>T (n.8370+157965C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108931012C>ACA348116297EDAR,RANBP2c.3G>T (p.Met1Ile)
c.54G>T (p.Met18Ile)
c.147G>T (p.Met49Ile)
c.8370+157966C>A (n.8370+157966C>A)
2g.108931012C>GCA348116298EDAR,RANBP2c.3G>C (p.Met1Ile)
c.54G>C (p.Met18Ile)
c.147G>C (p.Met49Ile)
c.8370+157966C>G (n.8370+157966C>G)
2g.108931012C>TCA348116299EDAR,RANBP2c.3G>A (p.Met1Ile)
c.54G>A (p.Met18Ile)
c.147G>A (p.Met49Ile)
c.8370+157966C>T (n.8370+157966C>T)
2g.108931013A>CCA348116301EDAR,RANBP2c.2T>G (p.Met1Arg)
c.53T>G (p.Met18Arg)
c.146T>G (p.Met49Arg)
c.8370+157967A>C (n.8370+157967A>C)
2g.108931013A>GCA348116302EDAR,RANBP2c.2T>C (p.Met1Thr)
c.53T>C (p.Met18Thr)
c.146T>C (p.Met49Thr)
c.8370+157967A>G (n.8370+157967A>G)
2g.108931013A>TCA348116300EDAR,RANBP2c.2T>A (p.Met1Lys)
c.53T>A (p.Met18Lys)
c.146T>A (p.Met49Lys)
c.8370+157967A>T (n.8370+157967A>T)
2g.108931014T>ACA348116303EDAR,RANBP2c.1A>T (p.Met1Leu)
c.52A>T (p.Met18Leu)
c.145A>T (p.Met49Leu)
c.8370+157968T>A (n.8370+157968T>A)
 gnomAD v4
2g.108931014T>CCA348116304EDAR,RANBP2c.1A>G (p.Met1Val)
c.52A>G (p.Met18Val)
c.145A>G (p.Met49Val)
c.8370+157968T>C (n.8370+157968T>C)
2g.108931014T>GCA348116305EDAR,RANBP2c.1A>C (p.Met1Leu)
c.52A>C (p.Met18Leu)
c.145A>C (p.Met49Leu)
c.8370+157968T>G (n.8370+157968T>G)
2g.108931015C=CA1278369398EDAR,RANBP2c.-1G= (n.-1G=)
c.51G= (p.Arg17=)
c.144G= (p.Arg48=)
c.8370+157969C= (n.8370+157969C=)
2g.108931015C>TCA1825266EDAR,RANBP2c.-1G>A (n.-1G>A)
c.51G>A (p.Arg17=)
c.144G>A (p.Arg48=)
c.8370+157969C>T (n.8370+157969C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931016C>ACA428087788EDAR,RANBP2c.-2G>T (n.-2G>T)
c.50G>T (p.Arg17Met)
c.143G>T (p.Arg48Met)
c.8370+157970C>A (n.8370+157970C>A)
 gnomAD v4
2g.108931018C>ACA535295057EDAR,RANBP2c.-4G>T (n.-4G>T)
c.48G>T (p.Glu16Asp)
c.141G>T (p.Glu47Asp)
c.8370+157972C>A (n.8370+157972C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931018C=CA1278369399EDAR,RANBP2c.-4G= (n.-4G=)
c.48G= (p.Glu16=)
c.141G= (p.Glu47=)
c.8370+157972C= (n.8370+157972C=)
2g.108931018C>TCA10610966EDAR,RANBP2c.-4G>A (n.-4G>A)
c.48G>A (p.Glu16=)
c.141G>A (p.Glu47=)
c.8370+157972C>T (n.8370+157972C>T)
 ClinVar dbSNP gnomAD v4
2g.108931019T>CCA1278369401EDAR,RANBP2c.-5A>G (n.-5A>G)
c.47A>G (p.Glu16Gly)
c.140A>G (p.Glu47Gly)
c.8370+157973T>C (n.8370+157973T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108931019T=CA1278369400EDAR,RANBP2c.-5A= (n.-5A=)
c.47A= (p.Glu16=)
c.140A= (p.Glu47=)
c.8370+157973T= (n.8370+157973T=)
2g.108931020C>ACA428087792EDAR,RANBP2c.-6G>T (n.-6G>T)
c.46G>T (p.Glu16Ter)
c.139G>T (p.Glu47Ter)
c.8370+157974C>A (n.8370+157974C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931020C=CA1278369402EDAR,RANBP2c.-6G= (n.-6G=)
c.46G= (p.Glu16=)
c.139G= (p.Glu47=)
c.8370+157974C= (n.8370+157974C=)
2g.108931022C>GCA2660611674EDAR,RANBP2c.-8G>C (n.-8G>C)
c.44G>C (p.Trp15Ser)
c.137G>C (p.Trp46Ser)
c.8370+157976C>G (n.8370+157976C>G)
 gnomAD v4
2g.108931022C>TCA2660611675EDAR,RANBP2c.-8G>A (n.-8G>A)
c.44G>A (p.Trp15Ter)
c.137G>A (p.Trp46Ter)
c.8370+157976C>T (n.8370+157976C>T)
 gnomAD v4
2g.108931023A=CA1278369403EDAR,RANBP2c.-9T= (n.-9T=)
c.43T= (p.Trp15=)
c.136T= (p.Trp46=)
c.8370+157977A= (n.8370+157977A=)
2g.108931023A>GCA1825267EDAR,RANBP2c.-9T>C (n.-9T>C)
c.43T>C (p.Trp15Arg)
c.136T>C (p.Trp46Arg)
c.8370+157977A>G (n.8370+157977A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931026G>ACA2660611676EDAR,RANBP2c.-12C>T (n.-12C>T)
c.40C>T (p.Pro14Ser)
c.133C>T (p.Pro45Ser)
c.8370+157980G>A (n.8370+157980G>A)
 gnomAD v4
2g.108931027G>ACA2751633904EDAR,RANBP2c.-13C>T (n.-13C>T)
c.39C>T (p.Ser13=)
c.132C>T (p.Ser44=)
c.8370+157981G>A (n.8370+157981G>A)
2g.108931028C=CA1278369404EDAR,RANBP2c.-14G= (n.-14G=)
c.38G= (p.Ser13=)
c.131G= (p.Ser44=)
c.8370+157982C= (n.8370+157982C=)
2g.108931028C>TCA535295063EDAR,RANBP2c.-14G>A (n.-14G>A)
c.38G>A (p.Ser13Asn)
c.131G>A (p.Ser44Asn)
c.8370+157982C>T (n.8370+157982C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108931030C=CA1278369405EDAR,RANBP2c.-16G= (n.-16G=)
c.36G= (p.Val12=)
c.129G= (p.Val43=)
c.8370+157984C= (n.8370+157984C=)
2g.108931030C>TCA1825268EDAR,RANBP2c.-16G>A (n.-16G>A)
c.36G>A (p.Val12=)
c.129G>A (p.Val43=)
c.8370+157984C>T (n.8370+157984C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931031A>CCA2577065795EDAR,RANBP2c.-17T>G (n.-17T>G)
c.35T>G (p.Val12Gly)
c.128T>G (p.Val43Gly)
c.8370+157985A>C (n.8370+157985A>C)
2g.108931031_108931032delinsACCA1278369406EDAR,RANBP2c.-18_-17delinsGT (n.-18_-17delinsGT)
c.34_35delinsGT (p.Val12=)
c.127_128delinsGT (p.Val43=)
c.8370+157985_8370+157986delinsAC (n.8370+157985_8370+157986delinsAC)
2g.108931032C>TCA2660611677EDAR,RANBP2c.-18G>A (n.-18G>A)
c.34G>A (p.Val12Met)
c.127G>A (p.Val43Met)
c.8370+157986C>T (n.8370+157986C>T)
 gnomAD v4
2g.108931033delCA535295065EDAR,RANBP2c.-18del
c.34del
c.127del
c.8370+157987del (n.8370+157987del)
 dbSNP gnomAD v2 gnomAD v4
2g.108931033C>GCA2751633905EDAR,RANBP2c.-18-1G>C (n.-18-1G>C)
c.34-1G>C (n.34-1G>C)
c.127-1G>C (n.127-1G>C)
c.8370+157987C>G (n.8370+157987C>G)
2g.108931034T>CCA2660611678EDAR,RANBP2c.-18-2A>G (n.-18-2A>G)
c.34-2A>G (n.34-2A>G)
c.127-2A>G (n.127-2A>G)
c.8370+157988T>C (n.8370+157988T>C)
 gnomAD v4
2g.108931035G>TCA2660611679EDAR,RANBP2c.-18-3C>A (n.-18-3C>A)
c.34-3C>A (n.34-3C>A)
c.127-3C>A (n.127-3C>A)
c.8370+157989G>T (n.8370+157989G>T)
 gnomAD v4
2g.108931036A=CA1278369407EDAR,RANBP2c.-18-4T= (n.-18-4T=)
c.34-4T= (n.34-4T=)
c.127-4T= (n.127-4T=)
c.8370+157990A= (n.8370+157990A=)
2g.108931036A>GCA1825269EDAR,RANBP2c.-18-4T>C (n.-18-4T>C)
c.34-4T>C (n.34-4T>C)
c.127-4T>C (n.127-4T>C)
c.8370+157990A>G (n.8370+157990A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931039G>CCA2660611680EDAR,RANBP2c.-18-7C>G (n.-18-7C>G)
c.34-7C>G (n.34-7C>G)
c.127-7C>G (n.127-7C>G)
c.8370+157993G>C (n.8370+157993G>C)
 gnomAD v4
2g.108931039G>TCA2577065796EDAR,RANBP2c.-18-7C>A (n.-18-7C>A)
c.34-7C>A (n.34-7C>A)
c.127-7C>A (n.127-7C>A)
c.8370+157993G>T (n.8370+157993G>T)
 gnomAD v4
2g.108931041C=CA1278369408EDAR,RANBP2c.-18-9G= (n.-18-9G=)
c.34-9G= (n.34-9G=)
c.127-9G= (n.127-9G=)
c.8370+157995C= (n.8370+157995C=)
2g.108931041C>TCA754907539EDAR,RANBP2c.-18-9G>A (n.-18-9G>A)
c.34-9G>A (n.34-9G>A)
c.127-9G>A (n.127-9G>A)
c.8370+157995C>T (n.8370+157995C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108931042A>GCA2660611681EDAR,RANBP2c.-18-10T>C (n.-18-10T>C)
c.34-10T>C (n.34-10T>C)
c.127-10T>C (n.127-10T>C)
c.8370+157996A>G (n.8370+157996A>G)
 gnomAD v4
2g.108931043T>CCA535295070EDAR,RANBP2c.-18-11A>G (n.-18-11A>G)
c.34-11A>G (n.34-11A>G)
c.127-11A>G (n.127-11A>G)
c.8370+157997T>C (n.8370+157997T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931043T=CA1278369409EDAR,RANBP2c.-18-11A= (n.-18-11A=)
c.34-11A= (n.34-11A=)
c.127-11A= (n.127-11A=)
c.8370+157997T= (n.8370+157997T=)
2g.108931045C>ACA54012345EDAR,RANBP2c.-18-13G>T (n.-18-13G>T)
c.34-13G>T (n.34-13G>T)
c.127-13G>T (n.127-13G>T)
c.8370+157999C>A (n.8370+157999C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931045C=CA1278369410EDAR,RANBP2c.-18-13G= (n.-18-13G=)
c.34-13G= (n.34-13G=)
c.127-13G= (n.127-13G=)
c.8370+157999C= (n.8370+157999C=)
2g.108931045C>TCA535295072EDAR,RANBP2c.-18-13G>A (n.-18-13G>A)
c.34-13G>A (n.34-13G>A)
c.127-13G>A (n.127-13G>A)
c.8370+157999C>T (n.8370+157999C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931046G>ACA1825270EDAR,RANBP2c.-18-14C>T (n.-18-14C>T)
c.34-14C>T (n.34-14C>T)
c.127-14C>T (n.127-14C>T)
c.8370+158000G>A (n.8370+158000G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931046G=CA1278369411EDAR,RANBP2c.-18-14C= (n.-18-14C=)
c.34-14C= (n.34-14C=)
c.127-14C= (n.127-14C=)
c.8370+158000G= (n.8370+158000G=)
2g.108931048C=CA1278369412EDAR,RANBP2c.-18-16G= (n.-18-16G=)
c.34-16G= (n.34-16G=)
c.127-16G= (n.127-16G=)
c.8370+158002C= (n.8370+158002C=)
2g.108931048C>TCA1825271EDAR,RANBP2c.-18-16G>A (n.-18-16G>A)
c.34-16G>A (n.34-16G>A)
c.127-16G>A (n.127-16G>A)
c.8370+158002C>T (n.8370+158002C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931049A=CA1278369413EDAR,RANBP2c.-18-17T= (n.-18-17T=)
c.34-17T= (n.34-17T=)
c.127-17T= (n.127-17T=)
c.8370+158003A= (n.8370+158003A=)
2g.108931049A>GCA1825272EDAR,RANBP2c.-18-17T>C (n.-18-17T>C)
c.34-17T>C (n.34-17T>C)
c.127-17T>C (n.127-17T>C)
c.8370+158003A>G (n.8370+158003A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931055T>CCA2660611682EDAR,RANBP2c.-18-23A>G (n.-18-23A>G)
c.34-23A>G (n.34-23A>G)
c.127-23A>G (n.127-23A>G)
c.8370+158009T>C (n.8370+158009T>C)
 gnomAD v4
2g.108931058G>CCA1034849425EDAR,RANBP2c.-18-26C>G (n.-18-26C>G)
c.34-26C>G (n.34-26C>G)
c.127-26C>G (n.127-26C>G)
c.8370+158012G>C (n.8370+158012G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108931058G=CA1278369414EDAR,RANBP2c.-18-26C= (n.-18-26C=)
c.34-26C= (n.34-26C=)
c.127-26C= (n.127-26C=)
c.8370+158012G= (n.8370+158012G=)
2g.108931058G>TCA2660611683EDAR,RANBP2c.-18-26C>A (n.-18-26C>A)
c.34-26C>A (n.34-26C>A)
c.127-26C>A (n.127-26C>A)
c.8370+158012G>T (n.8370+158012G>T)
 gnomAD v4
2g.108931059C>TCA2660611684EDAR,RANBP2c.-18-27G>A (n.-18-27G>A)
c.34-27G>A (n.34-27G>A)
c.127-27G>A (n.127-27G>A)
c.8370+158013C>T (n.8370+158013C>T)
 gnomAD v4
2g.108931061C>GCA2660611685EDAR,RANBP2c.-18-29G>C (n.-18-29G>C)
c.34-29G>C (n.34-29G>C)
c.127-29G>C (n.127-29G>C)
c.8370+158015C>G (n.8370+158015C>G)
 gnomAD v4
2g.108931062T>CCA2660611686EDAR,RANBP2c.-18-30A>G (n.-18-30A>G)
c.34-30A>G (n.34-30A>G)
c.127-30A>G (n.127-30A>G)
c.8370+158016T>C (n.8370+158016T>C)
 gnomAD v4
2g.108931063G>ACA2577065797EDAR,RANBP2c.-18-31C>T (n.-18-31C>T)
c.34-31C>T (n.34-31C>T)
c.127-31C>T (n.127-31C>T)
c.8370+158017G>A (n.8370+158017G>A)
2g.108931063G>CCA535295075EDAR,RANBP2c.-18-31C>G (n.-18-31C>G)
c.34-31C>G (n.34-31C>G)
c.127-31C>G (n.127-31C>G)
c.8370+158017G>C (n.8370+158017G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108931063G=CA1278369415EDAR,RANBP2c.-18-31C= (n.-18-31C=)
c.34-31C= (n.34-31C=)
c.127-31C= (n.127-31C=)
c.8370+158017G= (n.8370+158017G=)
2g.108931063G>TCA2577065798EDAR,RANBP2c.-18-31C>A (n.-18-31C>A)
c.34-31C>A (n.34-31C>A)
c.127-31C>A (n.127-31C>A)
c.8370+158017G>T (n.8370+158017G>T)
2g.108931064G>ACA2660611687EDAR,RANBP2c.-18-32C>T (n.-18-32C>T)
c.34-32C>T (n.34-32C>T)
c.127-32C>T (n.127-32C>T)
c.8370+158018G>A (n.8370+158018G>A)
 gnomAD v4
2g.108931065C>ACA1278369417EDAR,RANBP2c.-18-33G>T (n.-18-33G>T)
c.34-33G>T (n.34-33G>T)
c.127-33G>T (n.127-33G>T)
c.8370+158019C>A (n.8370+158019C>A)
 dbSNP
2g.108931065C=CA1278369416EDAR,RANBP2c.-18-33G= (n.-18-33G=)
c.34-33G= (n.34-33G=)
c.127-33G= (n.127-33G=)
c.8370+158019C= (n.8370+158019C=)
2g.108931065C>TCA1825273EDAR,RANBP2c.-18-33G>A (n.-18-33G>A)
c.34-33G>A (n.34-33G>A)
c.127-33G>A (n.127-33G>A)
c.8370+158019C>T (n.8370+158019C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931066G>ACA1825274EDAR,RANBP2c.-18-34C>T (n.-18-34C>T)
c.34-34C>T (n.34-34C>T)
c.127-34C>T (n.127-34C>T)
c.8370+158020G>A (n.8370+158020G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108931066G=CA1278369418EDAR,RANBP2c.-18-34C= (n.-18-34C=)
c.34-34C= (n.34-34C=)
c.127-34C= (n.127-34C=)
c.8370+158020G= (n.8370+158020G=)
2g.108931066G>TCA1278369419EDAR,RANBP2c.-18-34C>A (n.-18-34C>A)
c.34-34C>A (n.34-34C>A)
c.127-34C>A (n.127-34C>A)
c.8370+158020G>T (n.8370+158020G>T)
 dbSNP
2g.108931067G>TCA2660611688EDAR,RANBP2c.-18-35C>A (n.-18-35C>A)
c.34-35C>A (n.34-35C>A)
c.127-35C>A (n.127-35C>A)
c.8370+158021G>T (n.8370+158021G>T)
 gnomAD v4
2g.108931068T>CCA2660611689EDAR,RANBP2c.-18-36A>G (n.-18-36A>G)
c.34-36A>G (n.34-36A>G)
c.127-36A>G (n.127-36A>G)
c.8370+158022T>C (n.8370+158022T>C)
 gnomAD v4
2g.108931068T>GCA1278369421EDAR,RANBP2c.-18-36A>C (n.-18-36A>C)
c.34-36A>C (n.34-36A>C)
c.127-36A>C (n.127-36A>C)
c.8370+158022T>G (n.8370+158022T>G)
 dbSNP
2g.108931068T=CA1278369420EDAR,RANBP2c.-18-36A= (n.-18-36A=)
c.34-36A= (n.34-36A=)
c.127-36A= (n.127-36A=)
c.8370+158022T= (n.8370+158022T=)
2g.108931070G>ACA535295079EDAR,RANBP2c.-18-38C>T (n.-18-38C>T)
c.34-38C>T (n.34-38C>T)
c.127-38C>T (n.127-38C>T)
c.8370+158024G>A (n.8370+158024G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108931070G=CA1278369422EDAR,RANBP2c.-18-38C= (n.-18-38C=)
c.34-38C= (n.34-38C=)
c.127-38C= (n.127-38C=)
c.8370+158024G= (n.8370+158024G=)
2g.108931070G>TCA2577065799EDAR,RANBP2c.-18-38C>A (n.-18-38C>A)
c.34-38C>A (n.34-38C>A)
c.127-38C>A (n.127-38C>A)
c.8370+158024G>T (n.8370+158024G>T)
 gnomAD v4
2g.108931071C>ACA2700334909EDAR,RANBP2c.-18-39G>T (n.-18-39G>T)
c.34-39G>T (n.34-39G>T)
c.127-39G>T (n.127-39G>T)
c.8370+158025C>A (n.8370+158025C>A)
 dbSNP

Number of alleles fetched