Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108930960_108930966del | CA2577065792 | EDAR,RANBP2 | c.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 |
2 | g.108930966C>A | CA348116204 | EDAR,RANBP2 | c.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 |
2 | g.108930966C= | CA1278369374 | EDAR,RANBP2 | c.49G= (p.Val17=) c.100G= (p.Val34=) c.193G= (p.Val65=) c.8370+157920C= (n.8370+157920C=) | |
2 | g.108930966C>G | CA348116205 | EDAR,RANBP2 | c.49G>C (p.Val17Leu) c.100G>C (p.Val34Leu) c.193G>C (p.Val65Leu) c.8370+157920C>G (n.8370+157920C>G) | |
2 | g.108930966C>T | CA348116206 | EDAR,RANBP2 | c.49G>A (p.Val17Met) c.100G>A (p.Val34Met) c.193G>A (p.Val65Met) c.8370+157920C>T (n.8370+157920C>T) | gnomAD v4 |
2 | g.108930967del | CA2660611672 | EDAR,RANBP2 | c.49del (p.Val17TrpfsTer4) c.100del (p.Val34TrpfsTer4) c.193del (p.Val65TrpfsTer4) c.8370+157921del (n.8370+157921del) | gnomAD v4 |
2 | g.108930967C>A | CA1825248 | EDAR,RANBP2 | c.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 |
2 | g.108930967C= | CA1278369375 | EDAR,RANBP2 | c.48G= (p.Leu16=) c.99G= (p.Leu33=) c.192G= (p.Leu64=) c.8370+157921C= (n.8370+157921C=) | |
2 | g.108930967C>G | CA428087638 | EDAR,RANBP2 | c.48G>C (p.Leu16=) c.99G>C (p.Leu33=) c.192G>C (p.Leu64=) c.8370+157921C>G (n.8370+157921C>G) | gnomAD v4 |
2 | g.108930967C>T | CA428087639 | EDAR,RANBP2 | c.48G>A (p.Leu16=) c.99G>A (p.Leu33=) c.192G>A (p.Leu64=) c.8370+157921C>T (n.8370+157921C>T) | |
2 | g.108930968A>C | CA348116209 | EDAR,RANBP2 | c.47T>G (p.Leu16Arg) c.98T>G (p.Leu33Arg) c.191T>G (p.Leu64Arg) c.8370+157922A>C (n.8370+157922A>C) | |
2 | g.108930968A>G | CA348116208 | EDAR,RANBP2 | c.47T>C (p.Leu16Pro) c.98T>C (p.Leu33Pro) c.191T>C (p.Leu64Pro) c.8370+157922A>G (n.8370+157922A>G) | |
2 | g.108930968A>T | CA348116207 | EDAR,RANBP2 | c.47T>A (p.Leu16Gln) c.98T>A (p.Leu33Gln) c.191T>A (p.Leu64Gln) c.8370+157922A>T (n.8370+157922A>T) | |
2 | g.108930969G>A | CA428087643 | EDAR,RANBP2 | c.46C>T (p.Leu16=) c.97C>T (p.Leu33=) c.190C>T (p.Leu64=) c.8370+157923G>A (n.8370+157923G>A) | |
2 | g.108930969G>C | CA348116210 | EDAR,RANBP2 | c.46C>G (p.Leu16Val) c.97C>G (p.Leu33Val) c.190C>G (p.Leu64Val) c.8370+157923G>C (n.8370+157923G>C) | |
2 | g.108930969G>T | CA348116211 | EDAR,RANBP2 | c.46C>A (p.Leu16Met) c.97C>A (p.Leu33Met) c.190C>A (p.Leu64Met) c.8370+157923G>T (n.8370+157923G>T) | |
2 | g.108930970G>A | CA428087648 | EDAR,RANBP2 | c.45C>T (p.Val15=) c.96C>T (p.Val32=) c.189C>T (p.Val63=) c.8370+157924G>A (n.8370+157924G>A) | gnomAD v4 |
2 | g.108930970G>C | CA428087649 | EDAR,RANBP2 | c.45C>G (p.Val15=) c.96C>G (p.Val32=) c.189C>G (p.Val63=) c.8370+157924G>C (n.8370+157924G>C) | |
2 | g.108930970G>T | CA428087650 | EDAR,RANBP2 | c.45C>A (p.Val15=) c.96C>A (p.Val32=) c.189C>A (p.Val63=) c.8370+157924G>T (n.8370+157924G>T) | |
2 | g.108930971A>C | CA348116212 | EDAR,RANBP2 | c.44T>G (p.Val15Gly) c.95T>G (p.Val32Gly) c.188T>G (p.Val63Gly) c.8370+157925A>C (n.8370+157925A>C) | |
2 | g.108930971A>G | CA348116213 | EDAR,RANBP2 | c.44T>C (p.Val15Ala) c.95T>C (p.Val32Ala) c.188T>C (p.Val63Ala) c.8370+157925A>G (n.8370+157925A>G) | |
2 | g.108930971A>T | CA348116214 | EDAR,RANBP2 | c.44T>A (p.Val15Asp) c.95T>A (p.Val32Asp) c.188T>A (p.Val63Asp) c.8370+157925A>T (n.8370+157925A>T) | |
2 | g.108930972C>A | CA348116215 | EDAR,RANBP2 | c.43G>T (p.Val15Phe) c.94G>T (p.Val32Phe) c.187G>T (p.Val63Phe) c.8370+157926C>A (n.8370+157926C>A) | |
2 | g.108930972C= | CA1278369376 | EDAR,RANBP2 | c.43G= (p.Val15=) c.94G= (p.Val32=) c.187G= (p.Val63=) c.8370+157926C= (n.8370+157926C=) | |
2 | g.108930972C>G | CA348116216 | EDAR,RANBP2 | c.43G>C (p.Val15Leu) c.94G>C (p.Val32Leu) c.187G>C (p.Val63Leu) c.8370+157926C>G (n.8370+157926C>G) | gnomAD v4 |
2 | g.108930972C>T | CA1825249 | EDAR,RANBP2 | c.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 |
2 | g.108930973G>A | CA1825250 | EDAR,RANBP2 | c.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 |
2 | g.108930973G>C | CA1825251 | EDAR,RANBP2 | c.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 |
2 | g.108930973G= | CA1278369377 | EDAR,RANBP2 | c.42C= (p.Pro14=) c.93C= (p.Pro31=) c.186C= (p.Pro62=) c.8370+157927G= (n.8370+157927G=) | |
2 | g.108930973G>T | CA428087655 | EDAR,RANBP2 | c.42C>A (p.Pro14=) c.93C>A (p.Pro31=) c.186C>A (p.Pro62=) c.8370+157927G>T (n.8370+157927G>T) | |
2 | g.108930974G>A | CA348116217 | EDAR,RANBP2 | c.41C>T (p.Pro14Leu) c.92C>T (p.Pro31Leu) c.185C>T (p.Pro62Leu) c.8370+157928G>A (n.8370+157928G>A) | |
2 | g.108930974G>C | CA348116218 | EDAR,RANBP2 | c.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 |
2 | g.108930974G= | CA1278369378 | EDAR,RANBP2 | c.41C= (p.Pro14=) c.92C= (p.Pro31=) c.185C= (p.Pro62=) c.8370+157928G= (n.8370+157928G=) | |
2 | g.108930974G>T | CA348116219 | EDAR,RANBP2 | c.41C>A (p.Pro14His) c.92C>A (p.Pro31His) c.185C>A (p.Pro62His) c.8370+157928G>T (n.8370+157928G>T) | |
2 | g.108930975G>A | CA348116221 | EDAR,RANBP2 | c.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 |
2 | g.108930975G>C | CA348116222 | EDAR,RANBP2 | c.40C>G (p.Pro14Ala) c.91C>G (p.Pro31Ala) c.184C>G (p.Pro62Ala) c.8370+157929G>C (n.8370+157929G>C) | |
2 | g.108930975G= | CA1278369379 | EDAR,RANBP2 | c.40C= (p.Pro14=) c.91C= (p.Pro31=) c.184C= (p.Pro62=) c.8370+157929G= (n.8370+157929G=) | |
2 | g.108930975G>T | CA348116220 | EDAR,RANBP2 | c.40C>A (p.Pro14Thr) c.91C>A (p.Pro31Thr) c.184C>A (p.Pro62Thr) c.8370+157929G>T (n.8370+157929G>T) | |
2 | g.108930976G>A | CA428087663 | EDAR,RANBP2 | c.39C>T (p.Leu13=) c.90C>T (p.Leu30=) c.183C>T (p.Leu61=) c.8370+157930G>A (n.8370+157930G>A) | |
2 | g.108930976G>C | CA428087666 | EDAR,RANBP2 | c.39C>G (p.Leu13=) c.90C>G (p.Leu30=) c.183C>G (p.Leu61=) c.8370+157930G>C (n.8370+157930G>C) | |
2 | g.108930976G>T | CA428087667 | EDAR,RANBP2 | c.39C>A (p.Leu13=) c.90C>A (p.Leu30=) c.183C>A (p.Leu61=) c.8370+157930G>T (n.8370+157930G>T) | COSMIC COSMIC |
2 | g.108930977A>C | CA348116223 | EDAR,RANBP2 | c.38T>G (p.Leu13Arg) c.89T>G (p.Leu30Arg) c.182T>G (p.Leu61Arg) c.8370+157931A>C (n.8370+157931A>C) | |
2 | g.108930977A>G | CA348116224 | EDAR,RANBP2 | c.38T>C (p.Leu13Pro) c.89T>C (p.Leu30Pro) c.182T>C (p.Leu61Pro) c.8370+157931A>G (n.8370+157931A>G) | |
2 | g.108930977A>T | CA348116225 | EDAR,RANBP2 | c.38T>A (p.Leu13His) c.89T>A (p.Leu30His) c.182T>A (p.Leu61His) c.8370+157931A>T (n.8370+157931A>T) | |
2 | g.108930978G>A | CA348116226 | EDAR,RANBP2 | c.37C>T (p.Leu13Phe) c.88C>T (p.Leu30Phe) c.181C>T (p.Leu61Phe) c.8370+157932G>A (n.8370+157932G>A) | |
2 | g.108930978G>C | CA348116227 | EDAR,RANBP2 | c.37C>G (p.Leu13Val) c.88C>G (p.Leu30Val) c.181C>G (p.Leu61Val) c.8370+157932G>C (n.8370+157932G>C) | |
2 | g.108930978G>T | CA348116228 | EDAR,RANBP2 | c.37C>A (p.Leu13Ile) c.88C>A (p.Leu30Ile) c.181C>A (p.Leu61Ile) c.8370+157932G>T (n.8370+157932G>T) | |
2 | g.108930979C>A | CA348116229 | EDAR,RANBP2 | c.36G>T (p.Trp12Cys) c.87G>T (p.Trp29Cys) c.180G>T (p.Trp60Cys) c.8370+157933C>A (n.8370+157933C>A) | |
2 | g.108930979C= | CA1278369380 | EDAR,RANBP2 | c.36G= (p.Trp12=) c.87G= (p.Trp29=) c.180G= (p.Trp60=) c.8370+157933C= (n.8370+157933C=) | |
2 | g.108930979C>G | CA348116230 | EDAR,RANBP2 | c.36G>C (p.Trp12Cys) c.87G>C (p.Trp29Cys) c.180G>C (p.Trp60Cys) c.8370+157933C>G (n.8370+157933C>G) | gnomAD v4 |
2 | g.108930979C>T | CA1825252 | EDAR,RANBP2 | c.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 |
2 | g.108930980C>A | CA348116231 | EDAR,RANBP2 | c.35G>T (p.Trp12Leu) c.86G>T (p.Trp29Leu) c.179G>T (p.Trp60Leu) c.8370+157934C>A (n.8370+157934C>A) | |
2 | g.108930980C>G | CA348116232 | EDAR,RANBP2 | c.35G>C (p.Trp12Ser) c.86G>C (p.Trp29Ser) c.179G>C (p.Trp60Ser) c.8370+157934C>G (n.8370+157934C>G) | |
2 | g.108930980C>T | CA348116233 | EDAR,RANBP2 | c.35G>A (p.Trp12Ter) c.86G>A (p.Trp29Ter) c.179G>A (p.Trp60Ter) c.8370+157934C>T (n.8370+157934C>T) | |
2 | g.108930981A>C | CA348116234 | EDAR,RANBP2 | c.34T>G (p.Trp12Gly) c.85T>G (p.Trp29Gly) c.178T>G (p.Trp60Gly) c.8370+157935A>C (n.8370+157935A>C) | |
2 | g.108930981A>G | CA348116235 | EDAR,RANBP2 | c.34T>C (p.Trp12Arg) c.85T>C (p.Trp29Arg) c.178T>C (p.Trp60Arg) c.8370+157935A>G (n.8370+157935A>G) | |
2 | g.108930981A>T | CA348116236 | EDAR,RANBP2 | c.34T>A (p.Trp12Arg) c.85T>A (p.Trp29Arg) c.178T>A (p.Trp60Arg) c.8370+157935A>T (n.8370+157935A>T) | |
2 | g.108930982G>A | CA428087686 | EDAR,RANBP2 | c.33C>T (p.Pro11=) c.84C>T (p.Pro28=) c.177C>T (p.Pro59=) c.8370+157936G>A (n.8370+157936G>A) | |
2 | g.108930982G>C | CA1825253 | EDAR,RANBP2 | c.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 |
2 | g.108930982G= | CA1278369381 | EDAR,RANBP2 | c.33C= (p.Pro11=) c.84C= (p.Pro28=) c.177C= (p.Pro59=) c.8370+157936G= (n.8370+157936G=) | |
2 | g.108930982G>T | CA428087687 | EDAR,RANBP2 | c.33C>A (p.Pro11=) c.84C>A (p.Pro28=) c.177C>A (p.Pro59=) c.8370+157936G>T (n.8370+157936G>T) | |
2 | g.108930983G>A | CA348116239 | EDAR,RANBP2 | c.32C>T (p.Pro11Leu) c.83C>T (p.Pro28Leu) c.176C>T (p.Pro59Leu) c.8370+157937G>A (n.8370+157937G>A) | COSMIC COSMIC |
2 | g.108930983G>C | CA348116237 | EDAR,RANBP2 | c.32C>G (p.Pro11Arg) c.83C>G (p.Pro28Arg) c.176C>G (p.Pro59Arg) c.8370+157937G>C (n.8370+157937G>C) | |
2 | g.108930983G>T | CA348116238 | EDAR,RANBP2 | c.32C>A (p.Pro11His) c.83C>A (p.Pro28His) c.176C>A (p.Pro59His) c.8370+157937G>T (n.8370+157937G>T) | gnomAD v4 |
2 | g.108930984G>A | CA348116240 | EDAR,RANBP2 | c.31C>T (p.Pro11Ser) c.82C>T (p.Pro28Ser) c.175C>T (p.Pro59Ser) c.8370+157938G>A (n.8370+157938G>A) | |
2 | g.108930984G>C | CA348116241 | EDAR,RANBP2 | c.31C>G (p.Pro11Ala) c.82C>G (p.Pro28Ala) c.175C>G (p.Pro59Ala) c.8370+157938G>C (n.8370+157938G>C) | |
2 | g.108930984G= | CA1278369382 | EDAR,RANBP2 | c.31C= (p.Pro11=) c.82C= (p.Pro28=) c.175C= (p.Pro59=) c.8370+157938G= (n.8370+157938G=) | |
2 | g.108930984G>T | CA348116242 | EDAR,RANBP2 | c.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 |
2 | g.108930985C>A | CA428087695 | EDAR,RANBP2 | c.30G>T (p.Thr10=) c.81G>T (p.Thr27=) c.174G>T (p.Thr58=) c.8370+157939C>A (n.8370+157939C>A) | |
2 | g.108930985C= | CA1278369383 | EDAR,RANBP2 | c.30G= (p.Thr10=) c.81G= (p.Thr27=) c.174G= (p.Thr58=) c.8370+157939C= (n.8370+157939C=) | |
2 | g.108930985C>G | CA428087696 | EDAR,RANBP2 | c.30G>C (p.Thr10=) c.81G>C (p.Thr27=) c.174G>C (p.Thr58=) c.8370+157939C>G (n.8370+157939C>G) | |
2 | g.108930985C>T | CA1825254 | EDAR,RANBP2 | c.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 |
2 | g.108930986G>A | CA1825255 | EDAR,RANBP2 | c.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 |
2 | g.108930986G>C | CA348116243 | EDAR,RANBP2 | c.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 |
2 | g.108930986G= | CA1278369384 | EDAR,RANBP2 | c.29C= (p.Thr10=) c.80C= (p.Thr27=) c.173C= (p.Thr58=) c.8370+157940G= (n.8370+157940G=) | |
2 | g.108930986G>T | CA348116244 | EDAR,RANBP2 | c.29C>A (p.Thr10Lys) c.80C>A (p.Thr27Lys) c.173C>A (p.Thr58Lys) c.8370+157940G>T (n.8370+157940G>T) | |
2 | g.108930987T>A | CA348116245 | EDAR,RANBP2 | c.28A>T (p.Thr10Ser) c.79A>T (p.Thr27Ser) c.172A>T (p.Thr58Ser) c.8370+157941T>A (n.8370+157941T>A) | |
2 | g.108930987T>C | CA348116246 | EDAR,RANBP2 | c.28A>G (p.Thr10Ala) c.79A>G (p.Thr27Ala) c.172A>G (p.Thr58Ala) c.8370+157941T>C (n.8370+157941T>C) | |
2 | g.108930987T>G | CA348116247 | EDAR,RANBP2 | c.28A>C (p.Thr10Pro) c.79A>C (p.Thr27Pro) c.172A>C (p.Thr58Pro) c.8370+157941T>G (n.8370+157941T>G) | |
2 | g.108930988C>A | CA348116248 | EDAR,RANBP2 | c.27G>T (p.Gln9His) c.78G>T (p.Gln26His) c.171G>T (p.Gln57His) c.8370+157942C>A (n.8370+157942C>A) | |
2 | g.108930988C>G | CA348116249 | EDAR,RANBP2 | c.27G>C (p.Gln9His) c.78G>C (p.Gln26His) c.171G>C (p.Gln57His) c.8370+157942C>G (n.8370+157942C>G) | |
2 | g.108930988C>T | CA428087705 | EDAR,RANBP2 | c.27G>A (p.Gln9=) c.78G>A (p.Gln26=) c.171G>A (p.Gln57=) c.8370+157942C>T (n.8370+157942C>T) | |
2 | g.108930989T>A | CA348116250 | EDAR,RANBP2 | c.26A>T (p.Gln9Leu) c.77A>T (p.Gln26Leu) c.170A>T (p.Gln57Leu) c.8370+157943T>A (n.8370+157943T>A) | |
2 | g.108930989T>C | CA348116252 | EDAR,RANBP2 | c.26A>G (p.Gln9Arg) c.77A>G (p.Gln26Arg) c.170A>G (p.Gln57Arg) c.8370+157943T>C (n.8370+157943T>C) | |
2 | g.108930989T>G | CA348116251 | EDAR,RANBP2 | c.26A>C (p.Gln9Pro) c.77A>C (p.Gln26Pro) c.170A>C (p.Gln57Pro) c.8370+157943T>G (n.8370+157943T>G) | |
2 | g.108930990G>A | CA1825256 | EDAR,RANBP2 | c.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 |
2 | g.108930990G>C | CA348116253 | EDAR,RANBP2 | c.25C>G (p.Gln9Glu) c.76C>G (p.Gln26Glu) c.169C>G (p.Gln57Glu) c.8370+157944G>C (n.8370+157944G>C) | |
2 | g.108930990G= | CA1278369385 | EDAR,RANBP2 | c.25C= (p.Gln9=) c.76C= (p.Gln26=) c.169C= (p.Gln57=) c.8370+157944G= (n.8370+157944G=) | |
2 | g.108930990G>T | CA348116254 | EDAR,RANBP2 | c.25C>A (p.Gln9Lys) c.76C>A (p.Gln26Lys) c.169C>A (p.Gln57Lys) c.8370+157944G>T (n.8370+157944G>T) | |
2 | g.108930991C>A | CA1825258 | EDAR,RANBP2 | c.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 |
2 | g.108930991C= | CA1278369386 | EDAR,RANBP2 | c.24G= (p.Thr8=) c.75G= (p.Thr25=) c.168G= (p.Thr56=) c.8370+157945C= (n.8370+157945C=) | |
2 | g.108930991C>G | CA428087715 | EDAR,RANBP2 | c.24G>C (p.Thr8=) c.75G>C (p.Thr25=) c.168G>C (p.Thr56=) c.8370+157945C>G (n.8370+157945C>G) | COSMIC COSMIC |
2 | g.108930991C>T | CA1825257 | EDAR,RANBP2 | c.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 |
2 | g.108930992G>A | CA1825259 | EDAR,RANBP2 | c.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 |
2 | g.108930992G>C | CA348116255 | EDAR,RANBP2 | c.23C>G (p.Thr8Arg) c.74C>G (p.Thr25Arg) c.167C>G (p.Thr56Arg) c.8370+157946G>C (n.8370+157946G>C) | |
2 | g.108930992G= | CA1278369387 | EDAR,RANBP2 | c.23C= (p.Thr8=) c.74C= (p.Thr25=) c.167C= (p.Thr56=) c.8370+157946G= (n.8370+157946G=) | |
2 | g.108930992G>T | CA54012343 | EDAR,RANBP2 | c.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 |
2 | g.108930993T>A | CA348116256 | EDAR,RANBP2 | c.22A>T (p.Thr8Ser) c.73A>T (p.Thr25Ser) c.166A>T (p.Thr56Ser) c.8370+157947T>A (n.8370+157947T>A) | |
2 | g.108930993T>C | CA348116257 | EDAR,RANBP2 | c.22A>G (p.Thr8Ala) c.73A>G (p.Thr25Ala) c.166A>G (p.Thr56Ala) c.8370+157947T>C (n.8370+157947T>C) | |
2 | g.108930993T>G | CA348116258 | EDAR,RANBP2 | c.22A>C (p.Thr8Pro) c.73A>C (p.Thr25Pro) c.166A>C (p.Thr56Pro) c.8370+157947T>G (n.8370+157947T>G) | |
2 | g.108930994G>A | CA428087726 | EDAR,RANBP2 | c.21C>T (p.Cys7=) c.72C>T (p.Cys24=) c.165C>T (p.Cys55=) c.8370+157948G>A (n.8370+157948G>A) | |
2 | g.108930994G>C | CA348116259 | EDAR,RANBP2 | c.21C>G (p.Cys7Trp) c.72C>G (p.Cys24Trp) c.165C>G (p.Cys55Trp) c.8370+157948G>C (n.8370+157948G>C) | |
2 | g.108930994G>T | CA348116260 | EDAR,RANBP2 | c.21C>A (p.Cys7Ter) c.72C>A (p.Cys24Ter) c.165C>A (p.Cys55Ter) c.8370+157948G>T (n.8370+157948G>T) | |
2 | g.108930995C>A | CA348116263 | EDAR,RANBP2 | c.20G>T (p.Cys7Phe) c.71G>T (p.Cys24Phe) c.164G>T (p.Cys55Phe) c.8370+157949C>A (n.8370+157949C>A) | |
2 | g.108930995C>G | CA348116261 | EDAR,RANBP2 | c.20G>C (p.Cys7Ser) c.71G>C (p.Cys24Ser) c.164G>C (p.Cys55Ser) c.8370+157949C>G (n.8370+157949C>G) | |
2 | g.108930995C>T | CA348116262 | EDAR,RANBP2 | c.20G>A (p.Cys7Tyr) c.71G>A (p.Cys24Tyr) c.164G>A (p.Cys55Tyr) c.8370+157949C>T (n.8370+157949C>T) | |
2 | g.108930996A= | CA1278369388 | EDAR,RANBP2 | c.19T= (p.Cys7=) c.70T= (p.Cys24=) c.163T= (p.Cys55=) c.8370+157950A= (n.8370+157950A=) | |
2 | g.108930996A>C | CA348116264 | EDAR,RANBP2 | c.19T>G (p.Cys7Gly) c.70T>G (p.Cys24Gly) c.163T>G (p.Cys55Gly) c.8370+157950A>C (n.8370+157950A>C) | |
2 | g.108930996A>G | CA348116265 | EDAR,RANBP2 | c.19T>C (p.Cys7Arg) c.70T>C (p.Cys24Arg) c.163T>C (p.Cys55Arg) c.8370+157950A>G (n.8370+157950A>G) | |
2 | g.108930996A>T | CA1825260 | EDAR,RANBP2 | c.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 |
2 | g.108930997G>A | CA428087735 | EDAR,RANBP2 | c.18C>T (p.Asp6=) c.69C>T (p.Asp23=) c.162C>T (p.Asp54=) c.8370+157951G>A (n.8370+157951G>A) | gnomAD v4 |
2 | g.108930997G>C | CA348116266 | EDAR,RANBP2 | c.18C>G (p.Asp6Glu) c.69C>G (p.Asp23Glu) c.162C>G (p.Asp54Glu) c.8370+157951G>C (n.8370+157951G>C) | |
2 | g.108930997G>T | CA348116267 | EDAR,RANBP2 | c.18C>A (p.Asp6Glu) c.69C>A (p.Asp23Glu) c.162C>A (p.Asp54Glu) c.8370+157951G>T (n.8370+157951G>T) | |
2 | g.108930998T>A | CA348116268 | EDAR,RANBP2 | c.17A>T (p.Asp6Val) c.68A>T (p.Asp23Val) c.161A>T (p.Asp54Val) c.8370+157952T>A (n.8370+157952T>A) | |
2 | g.108930998T>C | CA348116269 | EDAR,RANBP2 | c.17A>G (p.Asp6Gly) c.68A>G (p.Asp23Gly) c.161A>G (p.Asp54Gly) c.8370+157952T>C (n.8370+157952T>C) | |
2 | g.108930998T>G | CA348116270 | EDAR,RANBP2 | c.17A>C (p.Asp6Ala) c.68A>C (p.Asp23Ala) c.161A>C (p.Asp54Ala) c.8370+157952T>G (n.8370+157952T>G) | |
2 | g.108930998dup | CA2577065794 | EDAR,RANBP2 | c.17dup (p.Asp6GlufsTer28) c.68dup (p.Asp23GlufsTer28) c.161dup (p.Asp54GlufsTer28) c.8370+157952dup (n.8370+157952dup) | |
2 | g.108930999C>A | CA1825261 | EDAR,RANBP2 | c.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 |
2 | g.108930999C= | CA1278369389 | EDAR,RANBP2 | c.16G= (p.Asp6=) c.67G= (p.Asp23=) c.160G= (p.Asp54=) c.8370+157953C= (n.8370+157953C=) | |
2 | g.108930999C>G | CA348116271 | EDAR,RANBP2 | c.16G>C (p.Asp6His) c.67G>C (p.Asp23His) c.160G>C (p.Asp54His) c.8370+157953C>G (n.8370+157953C>G) | |
2 | g.108930999C>T | CA348116272 | EDAR,RANBP2 | c.16G>A (p.Asp6Asn) c.67G>A (p.Asp23Asn) c.160G>A (p.Asp54Asn) c.8370+157953C>T (n.8370+157953C>T) | gnomAD v4 |
2 | g.108931000C>A | CA428087741 | EDAR,RANBP2 | c.15G>T (p.Gly5=) c.66G>T (p.Gly22=) c.159G>T (p.Gly53=) c.8370+157954C>A (n.8370+157954C>A) | |
2 | g.108931000C= | CA1278369390 | EDAR,RANBP2 | c.15G= (p.Gly5=) c.66G= (p.Gly22=) c.159G= (p.Gly53=) c.8370+157954C= (n.8370+157954C=) | |
2 | g.108931000C>G | CA1825262 | EDAR,RANBP2 | c.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 |
2 | g.108931000C>T | CA428087743 | EDAR,RANBP2 | c.15G>A (p.Gly5=) c.66G>A (p.Gly22=) c.159G>A (p.Gly53=) c.8370+157954C>T (n.8370+157954C>T) | |
2 | g.108931001C>A | CA348116273 | EDAR,RANBP2 | c.14G>T (p.Gly5Val) c.65G>T (p.Gly22Val) c.158G>T (p.Gly53Val) c.8370+157955C>A (n.8370+157955C>A) | |
2 | g.108931001C>G | CA348116275 | EDAR,RANBP2 | c.14G>C (p.Gly5Ala) c.65G>C (p.Gly22Ala) c.158G>C (p.Gly53Ala) c.8370+157955C>G (n.8370+157955C>G) | |
2 | g.108931001C>T | CA348116274 | EDAR,RANBP2 | c.14G>A (p.Gly5Glu) c.65G>A (p.Gly22Glu) c.158G>A (p.Gly53Glu) c.8370+157955C>T (n.8370+157955C>T) | |
2 | g.108931002C>A | CA348116276 | EDAR,RANBP2 | c.13G>T (p.Gly5Trp) c.64G>T (p.Gly22Trp) c.157G>T (p.Gly53Trp) c.8370+157956C>A (n.8370+157956C>A) | |
2 | g.108931002C= | CA1278369391 | EDAR,RANBP2 | c.13G= (p.Gly5=) c.64G= (p.Gly22=) c.157G= (p.Gly53=) c.8370+157956C= (n.8370+157956C=) | |
2 | g.108931002C>G | CA348116277 | EDAR,RANBP2 | c.13G>C (p.Gly5Arg) c.64G>C (p.Gly22Arg) c.157G>C (p.Gly53Arg) c.8370+157956C>G (n.8370+157956C>G) | |
2 | g.108931002C>T | CA1825263 | EDAR,RANBP2 | c.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 |
2 | g.108931003C>A | CA428087751 | EDAR,RANBP2 | c.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 |
2 | g.108931003C= | CA1278369392 | EDAR,RANBP2 | c.12G= (p.Val4=) c.63G= (p.Val21=) c.156G= (p.Val52=) c.8370+157957C= (n.8370+157957C=) | |
2 | g.108931003C>G | CA428087752 | EDAR,RANBP2 | c.12G>C (p.Val4=) c.63G>C (p.Val21=) c.156G>C (p.Val52=) c.8370+157957C>G (n.8370+157957C>G) | gnomAD v4 |
2 | g.108931003C>T | CA1825264 | EDAR,RANBP2 | c.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 |
2 | g.108931005_108931006del | CA2660611673 | EDAR,RANBP2 | c.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 |
2 | g.108931004A= | CA1278369393 | EDAR,RANBP2 | c.11T= (p.Val4=) c.62T= (p.Val21=) c.155T= (p.Val52=) c.8370+157958A= (n.8370+157958A=) | |
2 | g.108931004A>C | CA348116278 | EDAR,RANBP2 | c.11T>G (p.Val4Gly) c.62T>G (p.Val21Gly) c.155T>G (p.Val52Gly) c.8370+157958A>C (n.8370+157958A>C) | |
2 | g.108931004A>G | CA348116279 | EDAR,RANBP2 | c.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 |
2 | g.108931004A>T | CA348116280 | EDAR,RANBP2 | c.11T>A (p.Val4Glu) c.62T>A (p.Val21Glu) c.155T>A (p.Val52Glu) c.8370+157958A>T (n.8370+157958A>T) | |
2 | g.108931005C>A | CA348116281 | EDAR,RANBP2 | c.10G>T (p.Val4Leu) c.61G>T (p.Val21Leu) c.154G>T (p.Val52Leu) c.8370+157959C>A (n.8370+157959C>A) | |
2 | g.108931005C= | CA1278369394 | EDAR,RANBP2 | c.10G= (p.Val4=) c.61G= (p.Val21=) c.154G= (p.Val52=) c.8370+157959C= (n.8370+157959C=) | |
2 | g.108931005C>G | CA54012344 | EDAR,RANBP2 | c.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 |
2 | g.108931005C>T | CA348116282 | EDAR,RANBP2 | c.10G>A (p.Val4Met) c.61G>A (p.Val21Met) c.154G>A (p.Val52Met) c.8370+157959C>T (n.8370+157959C>T) | |
2 | g.108931006A= | CA1278369395 | EDAR,RANBP2 | c.9T= (p.His3=) c.60T= (p.His20=) c.153T= (p.His51=) c.8370+157960A= (n.8370+157960A=) | |
2 | g.108931006A>C | CA348116283 | EDAR,RANBP2 | c.9T>G (p.His3Gln) c.60T>G (p.His20Gln) c.153T>G (p.His51Gln) c.8370+157960A>C (n.8370+157960A>C) | |
2 | g.108931006A>G | CA1825265 | EDAR,RANBP2 | c.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 |
2 | g.108931006A>T | CA348116284 | EDAR,RANBP2 | c.9T>A (p.His3Gln) c.60T>A (p.His20Gln) c.153T>A (p.His51Gln) c.8370+157960A>T (n.8370+157960A>T) | |
2 | g.108931007T>A | CA348116287 | EDAR,RANBP2 | c.8A>T (p.His3Leu) c.59A>T (p.His20Leu) c.152A>T (p.His51Leu) c.8370+157961T>A (n.8370+157961T>A) | |
2 | g.108931007T>C | CA348116286 | EDAR,RANBP2 | c.8A>G (p.His3Arg) c.59A>G (p.His20Arg) c.152A>G (p.His51Arg) c.8370+157961T>C (n.8370+157961T>C) | |
2 | g.108931007T>G | CA348116285 | EDAR,RANBP2 | c.8A>C (p.His3Pro) c.59A>C (p.His20Pro) c.152A>C (p.His51Pro) c.8370+157961T>G (n.8370+157961T>G) | |
2 | g.108931008G>A | CA348116288 | EDAR,RANBP2 | c.7C>T (p.His3Tyr) c.58C>T (p.His20Tyr) c.151C>T (p.His51Tyr) c.8370+157962G>A (n.8370+157962G>A) | dbSNP |
2 | g.108931008G>C | CA348116289 | EDAR,RANBP2 | c.7C>G (p.His3Asp) c.58C>G (p.His20Asp) c.151C>G (p.His51Asp) c.8370+157962G>C (n.8370+157962G>C) | |
2 | g.108931008G= | CA1278369396 | EDAR,RANBP2 | c.7C= (p.His3=) c.58C= (p.His20=) c.151C= (p.His51=) c.8370+157962G= (n.8370+157962G=) | |
2 | g.108931008G>T | CA348116290 | EDAR,RANBP2 | c.7C>A (p.His3Asn) c.58C>A (p.His20Asn) c.151C>A (p.His51Asn) c.8370+157962G>T (n.8370+157962G>T) | |
2 | g.108931009G>A | CA428087771 | EDAR,RANBP2 | c.6C>T (p.Ala2=) c.57C>T (p.Ala19=) c.150C>T (p.Ala50=) c.8370+157963G>A (n.8370+157963G>A) | |
2 | g.108931009G>C | CA428087774 | EDAR,RANBP2 | c.6C>G (p.Ala2=) c.57C>G (p.Ala19=) c.150C>G (p.Ala50=) c.8370+157963G>C (n.8370+157963G>C) | |
2 | g.108931009G>T | CA428087775 | EDAR,RANBP2 | c.6C>A (p.Ala2=) c.57C>A (p.Ala19=) c.150C>A (p.Ala50=) c.8370+157963G>T (n.8370+157963G>T) | |
2 | g.108931010G>A | CA348116291 | EDAR,RANBP2 | c.5C>T (p.Ala2Val) c.56C>T (p.Ala19Val) c.149C>T (p.Ala50Val) c.8370+157964G>A (n.8370+157964G>A) | |
2 | g.108931010G>C | CA348116292 | EDAR,RANBP2 | c.5C>G (p.Ala2Gly) c.56C>G (p.Ala19Gly) c.149C>G (p.Ala50Gly) c.8370+157964G>C (n.8370+157964G>C) | |
2 | g.108931010G>T | CA348116293 | EDAR,RANBP2 | c.5C>A (p.Ala2Asp) c.56C>A (p.Ala19Asp) c.149C>A (p.Ala50Asp) c.8370+157964G>T (n.8370+157964G>T) | gnomAD v4 |
2 | g.108931011C>A | CA348116294 | EDAR,RANBP2 | c.4G>T (p.Ala2Ser) c.55G>T (p.Ala19Ser) c.148G>T (p.Ala50Ser) c.8370+157965C>A (n.8370+157965C>A) | |
2 | g.108931011C= | CA1278369397 | EDAR,RANBP2 | c.4G= (p.Ala2=) c.55G= (p.Ala19=) c.148G= (p.Ala50=) c.8370+157965C= (n.8370+157965C=) | |
2 | g.108931011C>G | CA348116295 | EDAR,RANBP2 | c.4G>C (p.Ala2Pro) c.55G>C (p.Ala19Pro) c.148G>C (p.Ala50Pro) c.8370+157965C>G (n.8370+157965C>G) | |
2 | g.108931011C>T | CA348116296 | EDAR,RANBP2 | c.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 |
2 | g.108931012C>A | CA348116297 | EDAR,RANBP2 | c.3G>T (p.Met1Ile) c.54G>T (p.Met18Ile) c.147G>T (p.Met49Ile) c.8370+157966C>A (n.8370+157966C>A) | |
2 | g.108931012C>G | CA348116298 | EDAR,RANBP2 | c.3G>C (p.Met1Ile) c.54G>C (p.Met18Ile) c.147G>C (p.Met49Ile) c.8370+157966C>G (n.8370+157966C>G) | |
2 | g.108931012C>T | CA348116299 | EDAR,RANBP2 | c.3G>A (p.Met1Ile) c.54G>A (p.Met18Ile) c.147G>A (p.Met49Ile) c.8370+157966C>T (n.8370+157966C>T) | |
2 | g.108931013A>C | CA348116301 | EDAR,RANBP2 | c.2T>G (p.Met1Arg) c.53T>G (p.Met18Arg) c.146T>G (p.Met49Arg) c.8370+157967A>C (n.8370+157967A>C) | |
2 | g.108931013A>G | CA348116302 | EDAR,RANBP2 | c.2T>C (p.Met1Thr) c.53T>C (p.Met18Thr) c.146T>C (p.Met49Thr) c.8370+157967A>G (n.8370+157967A>G) | |
2 | g.108931013A>T | CA348116300 | EDAR,RANBP2 | c.2T>A (p.Met1Lys) c.53T>A (p.Met18Lys) c.146T>A (p.Met49Lys) c.8370+157967A>T (n.8370+157967A>T) | |
2 | g.108931014T>A | CA348116303 | EDAR,RANBP2 | c.1A>T (p.Met1Leu) c.52A>T (p.Met18Leu) c.145A>T (p.Met49Leu) c.8370+157968T>A (n.8370+157968T>A) | gnomAD v4 |
2 | g.108931014T>C | CA348116304 | EDAR,RANBP2 | c.1A>G (p.Met1Val) c.52A>G (p.Met18Val) c.145A>G (p.Met49Val) c.8370+157968T>C (n.8370+157968T>C) | |
2 | g.108931014T>G | CA348116305 | EDAR,RANBP2 | c.1A>C (p.Met1Leu) c.52A>C (p.Met18Leu) c.145A>C (p.Met49Leu) c.8370+157968T>G (n.8370+157968T>G) | |
2 | g.108931015C= | CA1278369398 | EDAR,RANBP2 | c.-1G= (n.-1G=) c.51G= (p.Arg17=) c.144G= (p.Arg48=) c.8370+157969C= (n.8370+157969C=) | |
2 | g.108931015C>T | CA1825266 | EDAR,RANBP2 | c.-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 |
2 | g.108931016C>A | CA428087788 | EDAR,RANBP2 | c.-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 |
2 | g.108931018C>A | CA535295057 | EDAR,RANBP2 | c.-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 |
2 | g.108931018C= | CA1278369399 | EDAR,RANBP2 | c.-4G= (n.-4G=) c.48G= (p.Glu16=) c.141G= (p.Glu47=) c.8370+157972C= (n.8370+157972C=) | |
2 | g.108931018C>T | CA10610966 | EDAR,RANBP2 | c.-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 |
2 | g.108931019T>C | CA1278369401 | EDAR,RANBP2 | c.-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 |
2 | g.108931019T= | CA1278369400 | EDAR,RANBP2 | c.-5A= (n.-5A=) c.47A= (p.Glu16=) c.140A= (p.Glu47=) c.8370+157973T= (n.8370+157973T=) | |
2 | g.108931020C>A | CA428087792 | EDAR,RANBP2 | c.-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 |
2 | g.108931020C= | CA1278369402 | EDAR,RANBP2 | c.-6G= (n.-6G=) c.46G= (p.Glu16=) c.139G= (p.Glu47=) c.8370+157974C= (n.8370+157974C=) | |
2 | g.108931022C>G | CA2660611674 | EDAR,RANBP2 | c.-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 |
2 | g.108931022C>T | CA2660611675 | EDAR,RANBP2 | c.-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 |
2 | g.108931023A= | CA1278369403 | EDAR,RANBP2 | c.-9T= (n.-9T=) c.43T= (p.Trp15=) c.136T= (p.Trp46=) c.8370+157977A= (n.8370+157977A=) | |
2 | g.108931023A>G | CA1825267 | EDAR,RANBP2 | c.-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 |
2 | g.108931026G>A | CA2660611676 | EDAR,RANBP2 | c.-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 |
2 | g.108931027G>A | CA2751633904 | EDAR,RANBP2 | c.-13C>T (n.-13C>T) c.39C>T (p.Ser13=) c.132C>T (p.Ser44=) c.8370+157981G>A (n.8370+157981G>A) | |
2 | g.108931028C= | CA1278369404 | EDAR,RANBP2 | c.-14G= (n.-14G=) c.38G= (p.Ser13=) c.131G= (p.Ser44=) c.8370+157982C= (n.8370+157982C=) | |
2 | g.108931028C>T | CA535295063 | EDAR,RANBP2 | c.-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 |
2 | g.108931030C= | CA1278369405 | EDAR,RANBP2 | c.-16G= (n.-16G=) c.36G= (p.Val12=) c.129G= (p.Val43=) c.8370+157984C= (n.8370+157984C=) | |
2 | g.108931030C>T | CA1825268 | EDAR,RANBP2 | c.-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 |
2 | g.108931031A>C | CA2577065795 | EDAR,RANBP2 | c.-17T>G (n.-17T>G) c.35T>G (p.Val12Gly) c.128T>G (p.Val43Gly) c.8370+157985A>C (n.8370+157985A>C) | |
2 | g.108931031_108931032delinsAC | CA1278369406 | EDAR,RANBP2 | c.-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) | |
2 | g.108931032C>T | CA2660611677 | EDAR,RANBP2 | c.-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 |
2 | g.108931033del | CA535295065 | EDAR,RANBP2 | c.-18del c.34del c.127del c.8370+157987del (n.8370+157987del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108931033C>G | CA2751633905 | EDAR,RANBP2 | c.-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) | |
2 | g.108931034T>C | CA2660611678 | EDAR,RANBP2 | c.-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 |
2 | g.108931035G>T | CA2660611679 | EDAR,RANBP2 | c.-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 |
2 | g.108931036A= | CA1278369407 | EDAR,RANBP2 | c.-18-4T= (n.-18-4T=) c.34-4T= (n.34-4T=) c.127-4T= (n.127-4T=) c.8370+157990A= (n.8370+157990A=) | |
2 | g.108931036A>G | CA1825269 | EDAR,RANBP2 | c.-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 |
2 | g.108931039G>C | CA2660611680 | EDAR,RANBP2 | c.-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 |
2 | g.108931039G>T | CA2577065796 | EDAR,RANBP2 | c.-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 |
2 | g.108931041C= | CA1278369408 | EDAR,RANBP2 | c.-18-9G= (n.-18-9G=) c.34-9G= (n.34-9G=) c.127-9G= (n.127-9G=) c.8370+157995C= (n.8370+157995C=) | |
2 | g.108931041C>T | CA754907539 | EDAR,RANBP2 | c.-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 |
2 | g.108931042A>G | CA2660611681 | EDAR,RANBP2 | c.-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 |
2 | g.108931043T>C | CA535295070 | EDAR,RANBP2 | c.-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 |
2 | g.108931043T= | CA1278369409 | EDAR,RANBP2 | c.-18-11A= (n.-18-11A=) c.34-11A= (n.34-11A=) c.127-11A= (n.127-11A=) c.8370+157997T= (n.8370+157997T=) | |
2 | g.108931045C>A | CA54012345 | EDAR,RANBP2 | c.-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 |
2 | g.108931045C= | CA1278369410 | EDAR,RANBP2 | c.-18-13G= (n.-18-13G=) c.34-13G= (n.34-13G=) c.127-13G= (n.127-13G=) c.8370+157999C= (n.8370+157999C=) | |
2 | g.108931045C>T | CA535295072 | EDAR,RANBP2 | c.-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 |
2 | g.108931046G>A | CA1825270 | EDAR,RANBP2 | c.-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 |
2 | g.108931046G= | CA1278369411 | EDAR,RANBP2 | c.-18-14C= (n.-18-14C=) c.34-14C= (n.34-14C=) c.127-14C= (n.127-14C=) c.8370+158000G= (n.8370+158000G=) | |
2 | g.108931048C= | CA1278369412 | EDAR,RANBP2 | c.-18-16G= (n.-18-16G=) c.34-16G= (n.34-16G=) c.127-16G= (n.127-16G=) c.8370+158002C= (n.8370+158002C=) | |
2 | g.108931048C>T | CA1825271 | EDAR,RANBP2 | c.-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 |
2 | g.108931049A= | CA1278369413 | EDAR,RANBP2 | c.-18-17T= (n.-18-17T=) c.34-17T= (n.34-17T=) c.127-17T= (n.127-17T=) c.8370+158003A= (n.8370+158003A=) | |
2 | g.108931049A>G | CA1825272 | EDAR,RANBP2 | c.-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 |
2 | g.108931055T>C | CA2660611682 | EDAR,RANBP2 | c.-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 |
2 | g.108931058G>C | CA1034849425 | EDAR,RANBP2 | c.-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 |
2 | g.108931058G= | CA1278369414 | EDAR,RANBP2 | c.-18-26C= (n.-18-26C=) c.34-26C= (n.34-26C=) c.127-26C= (n.127-26C=) c.8370+158012G= (n.8370+158012G=) | |
2 | g.108931058G>T | CA2660611683 | EDAR,RANBP2 | c.-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 |
2 | g.108931059C>T | CA2660611684 | EDAR,RANBP2 | c.-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 |
2 | g.108931061C>G | CA2660611685 | EDAR,RANBP2 | c.-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 |
2 | g.108931062T>C | CA2660611686 | EDAR,RANBP2 | c.-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 |
2 | g.108931063G>A | CA2577065797 | EDAR,RANBP2 | c.-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) | |
2 | g.108931063G>C | CA535295075 | EDAR,RANBP2 | c.-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 |
2 | g.108931063G= | CA1278369415 | EDAR,RANBP2 | c.-18-31C= (n.-18-31C=) c.34-31C= (n.34-31C=) c.127-31C= (n.127-31C=) c.8370+158017G= (n.8370+158017G=) | |
2 | g.108931063G>T | CA2577065798 | EDAR,RANBP2 | c.-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) | |
2 | g.108931064G>A | CA2660611687 | EDAR,RANBP2 | c.-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 |
2 | g.108931065C>A | CA1278369417 | EDAR,RANBP2 | c.-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 |
2 | g.108931065C= | CA1278369416 | EDAR,RANBP2 | c.-18-33G= (n.-18-33G=) c.34-33G= (n.34-33G=) c.127-33G= (n.127-33G=) c.8370+158019C= (n.8370+158019C=) | |
2 | g.108931065C>T | CA1825273 | EDAR,RANBP2 | c.-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 |
2 | g.108931066G>A | CA1825274 | EDAR,RANBP2 | c.-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 |
2 | g.108931066G= | CA1278369418 | EDAR,RANBP2 | c.-18-34C= (n.-18-34C=) c.34-34C= (n.34-34C=) c.127-34C= (n.127-34C=) c.8370+158020G= (n.8370+158020G=) | |
2 | g.108931066G>T | CA1278369419 | EDAR,RANBP2 | c.-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 |