| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.68829785G>A | CA516988509 | EFNB1 | c.9G>A (p.Arg3=) | gnomAD v4 |
| X | g.68829785G>C | CA516988510 | EFNB1 | c.9G>C (p.Arg3=) | |
| X | g.68829785G>T | CA516988511 | EFNB1 | c.9G>T (p.Arg3=) | gnomAD v4 |
| X | g.68829786C>A | CA413436984 | EFNB1 | c.10C>A (p.Pro4Thr) | gnomAD v4 |
| X | g.68829786C= | CA2435560620 | EFNB1 | c.10C= (p.Pro4=) | |
| X | g.68829786C>G | CA413436985 | EFNB1 | c.10C>G (p.Pro4Ala) | |
| X | g.68829786C>T | CA330857229 | EFNB1 | c.10C>T (p.Pro4Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829787C>A | CA413436986 | EFNB1 | c.11C>A (p.Pro4His) | gnomAD v4 |
| X | g.68829787C>G | CA413436987 | EFNB1 | c.11C>G (p.Pro4Arg) | |
| X | g.68829787C>T | CA413436988 | EFNB1 | c.11C>T (p.Pro4Leu) | gnomAD v4 |
| X | g.68829788T>A | CA10438095 | EFNB1 | c.12T>A (p.Pro4=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829788T>C | CA516988513 | EFNB1 | c.12T>C (p.Pro4=) | |
| X | g.68829788T>G | CA516988514 | EFNB1 | c.12T>G (p.Pro4=) | |
| X | g.68829788T= | CA2435560621 | EFNB1 | c.12T= (p.Pro4=) | |
| X | g.68829789G>A | CA413436991 | EFNB1 | c.13G>A (p.Gly5Arg) | gnomAD v4 |
| X | g.68829789G>C | CA413436990 | EFNB1 | c.13G>C (p.Gly5Arg) | |
| X | g.68829789G>T | CA413436989 | EFNB1 | c.13G>T (p.Gly5Trp) | gnomAD v4 |
| X | g.68829790G>A | CA413436992 | EFNB1 | c.14G>A (p.Gly5Glu) | |
| X | g.68829790G>C | CA413436993 | EFNB1 | c.14G>C (p.Gly5Ala) | |
| X | g.68829790G>T | CA413436994 | EFNB1 | c.14G>T (p.Gly5Val) | gnomAD v4 |
| X | g.68829791G>A | CA516988516 | EFNB1 | c.15G>A (p.Gly5=) | gnomAD v4 |
| X | g.68829791G>C | CA516988517 | EFNB1 | c.15G>C (p.Gly5=) | |
| X | g.68829791G>T | CA516988518 | EFNB1 | c.15G>T (p.Gly5=) | gnomAD v4 |
| X | g.68829792C>A | CA413436995 | EFNB1 | c.16C>A (p.Gln6Lys) | gnomAD v4 |
| X | g.68829792C>G | CA413436996 | EFNB1 | c.16C>G (p.Gln6Glu) | |
| X | g.68829792C>T | CA413436997 | EFNB1 | c.16C>T (p.Gln6Ter) | |
| X | g.68829793A>C | CA413436998 | EFNB1 | c.17A>C (p.Gln6Pro) | |
| X | g.68829793A>G | CA413436999 | EFNB1 | c.17A>G (p.Gln6Arg) | gnomAD v4 |
| X | g.68829793A>T | CA413437000 | EFNB1 | c.17A>T (p.Gln6Leu) | |
| X | g.68829794G>A | CA10438096 | EFNB1 | c.18G>A (p.Gln6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829794G>C | CA413437001 | EFNB1 | c.18G>C (p.Gln6His) | |
| X | g.68829794G= | CA2435560622 | EFNB1 | c.18G= (p.Gln6=) | |
| X | g.68829794G>T | CA413437002 | EFNB1 | c.18G>T (p.Gln6His) | gnomAD v4 |
| X | g.68829795C>A | CA413437003 | EFNB1 | c.19C>A (p.Arg7Ser) | gnomAD v4 |
| X | g.68829795C= | CA2435560623 | EFNB1 | c.19C= (p.Arg7=) | |
| X | g.68829795C>G | CA413437005 | EFNB1 | c.19C>G (p.Arg7Gly) | |
| X | g.68829795C>T | CA413437004 | EFNB1 | c.19C>T (p.Arg7Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829796G>A | CA330857230 | EFNB1 | c.20G>A (p.Arg7His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829796G>C | CA413437007 | EFNB1 | c.20G>C (p.Arg7Pro) | |
| X | g.68829796G= | CA2435560624 | EFNB1 | c.20G= (p.Arg7=) | |
| X | g.68829796G>T | CA413437006 | EFNB1 | c.20G>T (p.Arg7Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829797T>A | CA516988519 | EFNB1 | c.21T>A (p.Arg7=) | |
| X | g.68829797T>C | CA516988520 | EFNB1 | c.21T>C (p.Arg7=) | |
| X | g.68829797T>G | CA516988521 | EFNB1 | c.21T>G (p.Arg7=) | |
| X | g.68829798T>A | CA413437008 | EFNB1 | c.22T>A (p.Trp8Arg) | |
| X | g.68829798T>C | CA413437010 | EFNB1 | c.22T>C (p.Trp8Arg) | dbSNP |
| X | g.68829798T>G | CA413437009 | EFNB1 | c.22T>G (p.Trp8Gly) | |
| X | g.68829798T= | CA2435560625 | EFNB1 | c.22T= (p.Trp8=) | |
| X | g.68829799G>A | CA413437011 | EFNB1 | c.23G>A (p.Trp8Ter) | gnomAD v4 |
| X | g.68829799G>C | CA413437013 | EFNB1 | c.23G>C (p.Trp8Ser) |