| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.68829877_68829890dup | CA10581351 | EFNB1 | c.101_114dup (p.Ser39ProfsTer12) | ClinVar dbSNP |
| X | g.68829877_68829890del | CA2579984143 | EFNB1 | c.101_114del (p.Pro34LeufsTer?) | ClinVar |
| X | g.68829885T>A | CA413437194 | EFNB1 | c.109T>A (p.Trp37Arg) | gnomAD v4 |
| X | g.68829885T>C | CA413437193 | EFNB1 | c.109T>C (p.Trp37Arg) | |
| X | g.68829885T>G | CA121638 | EFNB1 | c.109T>G (p.Trp37Gly) | ClinVar dbSNP |
| X | g.68829885T= | CA2435560652 | EFNB1 | c.109T= (p.Trp37=) | |
| X | g.68829886G>A | CA121640 | EFNB1 | c.110G>A (p.Trp37Ter) | ClinVar dbSNP |
| X | g.68829886G>C | CA413437195 | EFNB1 | c.110G>C (p.Trp37Ser) | |
| X | g.68829886G= | CA2435560653 | EFNB1 | c.110G= (p.Trp37=) | |
| X | g.68829886G>T | CA413437196 | EFNB1 | c.110G>T (p.Trp37Leu) | |
| X | g.68829887G>A | CA413437197 | EFNB1 | c.111G>A (p.Trp37Ter) | ClinVar dbSNP |
| X | g.68829887G>C | CA413437198 | EFNB1 | c.111G>C (p.Trp37Cys) | |
| X | g.68829887G>T | CA413437199 | EFNB1 | c.111G>T (p.Trp37Cys) | |
| X | g.68829888A>C | CA413437200 | EFNB1 | c.112A>C (p.Ser38Arg) | |
| X | g.68829888A>G | CA413437202 | EFNB1 | c.112A>G (p.Ser38Gly) | |
| X | g.68829888A>T | CA413437201 | EFNB1 | c.112A>T (p.Ser38Cys) | |
| X | g.68829889G>A | CA413437203 | EFNB1 | c.113G>A (p.Ser38Asn) | |
| X | g.68829889G>C | CA413437204 | EFNB1 | c.113G>C (p.Ser38Thr) | |
| X | g.68829889G>T | CA413437205 | EFNB1 | c.113G>T (p.Ser38Ile) | |
| X | g.68829890C>A | CA413437206 | EFNB1 | c.114C>A (p.Ser38Arg) | |
| X | g.68829890C= | CA2435560654 | EFNB1 | c.114C= (p.Ser38=) | |
| X | g.68829890C>G | CA413437207 | EFNB1 | c.114C>G (p.Ser38Arg) | |
| X | g.68829890C>T | CA516988592 | EFNB1 | c.114C>T (p.Ser38=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829891T>A | CA413437208 | EFNB1 | c.115T>A (p.Ser39Thr) | |
| X | g.68829891T>C | CA413437209 | EFNB1 | c.115T>C (p.Ser39Pro) | |
| X | g.68829891T>G | CA413437210 | EFNB1 | c.115T>G (p.Ser39Ala) | |
| X | g.68829892C>A | CA413437211 | EFNB1 | c.116C>A (p.Ser39Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829892C= | CA2435560655 | EFNB1 | c.116C= (p.Ser39=) | |
| X | g.68829892C>G | CA413437212 | EFNB1 | c.116C>G (p.Ser39Cys) | |
| X | g.68829892C>T | CA413437213 | EFNB1 | c.116C>T (p.Ser39Phe) | gnomAD v4 |
| X | g.68829893C>A | CA516988593 | EFNB1 | c.117C>A (p.Ser39=) | |
| X | g.68829893C>G | CA516988594 | EFNB1 | c.117C>G (p.Ser39=) | |
| X | g.68829893C>T | CA516988595 | EFNB1 | c.117C>T (p.Ser39=) | |
| X | g.68829894C>A | CA413437214 | EFNB1 | c.118C>A (p.Leu40Ile) | gnomAD v4 |
| X | g.68829894C= | CA2435560656 | EFNB1 | c.118C= (p.Leu40=) | |
| X | g.68829894C>G | CA413437216 | EFNB1 | c.118C>G (p.Leu40Val) | dbSNP gnomAD v4 |
| X | g.68829894C>T | CA413437215 | EFNB1 | c.118C>T (p.Leu40Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829895T>A | CA413437217 | EFNB1 | c.119T>A (p.Leu40His) | |
| X | g.68829895T>C | CA413437218 | EFNB1 | c.119T>C (p.Leu40Pro) | |
| X | g.68829895T>G | CA413437219 | EFNB1 | c.119T>G (p.Leu40Arg) | |
| X | g.68829896C>A | CA516988598 | EFNB1 | c.120C>A (p.Leu40=) | gnomAD v4 |
| X | g.68829896C>G | CA516988596 | EFNB1 | c.120C>G (p.Leu40=) | gnomAD v4 |
| X | g.68829896C>T | CA516988597 | EFNB1 | c.120C>T (p.Leu40=) | |
| X | g.68829897A>C | CA413437220 | EFNB1 | c.121A>C (p.Asn41His) | |
| X | g.68829897A>G | CA413437221 | EFNB1 | c.121A>G (p.Asn41Asp) | |
| X | g.68829897A>T | CA413437222 | EFNB1 | c.121A>T (p.Asn41Tyr) | gnomAD v4 |
| X | g.68829898A>C | CA413437223 | EFNB1 | c.122A>C (p.Asn41Thr) | |
| X | g.68829898A>G | CA413437224 | EFNB1 | c.122A>G (p.Asn41Ser) | |
| X | g.68829898A>T | CA413437225 | EFNB1 | c.122A>T (p.Asn41Ile) | |
| X | g.68829899C>A | CA413437226 | EFNB1 | c.123C>A (p.Asn41Lys) |