Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |