| 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.108930963C>A | CA348116199 | EDAR,RANBP2 | c.51+1G>T (n.51+1G>T) c.102+1G>T (n.102+1G>T) c.195+1G>T (n.195+1G>T) c.8370+157917C>A (n.8370+157917C>A) | |
| 2 | g.108930963C= | CA1278369372 | EDAR,RANBP2 | c.51+1G= (n.51+1G=) c.102+1G= (n.102+1G=) c.195+1G= (n.195+1G=) c.8370+157917C= (n.8370+157917C=) | |
| 2 | g.108930963C>G | CA348116200 | EDAR,RANBP2 | c.51+1G>C (n.51+1G>C) c.102+1G>C (n.102+1G>C) c.195+1G>C (n.195+1G>C) c.8370+157917C>G (n.8370+157917C>G) | gnomAD v4 |
| 2 | g.108930963C>T | CA253630 | EDAR,RANBP2 | c.51+1G>A (n.51+1G>A) c.102+1G>A (n.102+1G>A) c.195+1G>A (n.195+1G>A) c.8370+157917C>T (n.8370+157917C>T) | ClinVar dbSNP |
| 2 | g.108930964C>A | CA428087628 | EDAR,RANBP2 | c.51G>T (p.Val17=) c.102G>T (p.Val34=) c.195G>T (p.Val65=) c.8370+157918C>A (n.8370+157918C>A) | |
| 2 | g.108930964C= | CA1278369373 | EDAR,RANBP2 | c.51G= (p.Val17=) c.102G= (p.Val34=) c.195G= (p.Val65=) c.8370+157918C= (n.8370+157918C=) | |
| 2 | g.108930964C>G | CA428087630 | EDAR,RANBP2 | c.51G>C (p.Val17=) c.102G>C (p.Val34=) c.195G>C (p.Val65=) c.8370+157918C>G (n.8370+157918C>G) | |
| 2 | g.108930964C>T | CA1825247 | EDAR,RANBP2 | c.51G>A (p.Val17=) c.102G>A (p.Val34=) c.195G>A (p.Val65=) c.8370+157918C>T (n.8370+157918C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108930965A>C | CA348116201 | EDAR,RANBP2 | c.50T>G (p.Val17Gly) c.101T>G (p.Val34Gly) c.194T>G (p.Val65Gly) c.8370+157919A>C (n.8370+157919A>C) | |
| 2 | g.108930965A>G | CA348116202 | EDAR,RANBP2 | c.50T>C (p.Val17Ala) c.101T>C (p.Val34Ala) c.194T>C (p.Val65Ala) c.8370+157919A>G (n.8370+157919A>G) | |
| 2 | g.108930965A>T | CA348116203 | EDAR,RANBP2 | c.50T>A (p.Val17Glu) c.101T>A (p.Val34Glu) c.194T>A (p.Val65Glu) c.8370+157919A>T (n.8370+157919A>T) | |
| 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) |