Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.68829899C>G | CA413437227 | EFNB1 | c.123C>G (p.Asn41Lys) | |
X | g.68829899C>T | CA516988599 | EFNB1 | c.123C>T (p.Asn41=) | |
X | g.68829900C>A | CA413437230 | EFNB1 | c.124C>A (p.Pro42Thr) | gnomAD v4 |
X | g.68829900C= | CA2435560657 | EFNB1 | c.124C= (p.Pro42=) | |
X | g.68829900C>G | CA413437229 | EFNB1 | c.124C>G (p.Pro42Ala) | |
X | g.68829900C>T | CA413437228 | EFNB1 | c.124C>T (p.Pro42Ser) | dbSNP gnomAD v4 |
X | g.68829901C>A | CA413437231 | EFNB1 | c.125C>A (p.Pro42His) | gnomAD v4 |
X | g.68829901C>G | CA413437232 | EFNB1 | c.125C>G (p.Pro42Arg) | |
X | g.68829901C>T | CA413437233 | EFNB1 | c.125C>T (p.Pro42Leu) | |
X | g.68829902C>A | CA516988600 | EFNB1 | c.126C>A (p.Pro42=) | |
X | g.68829902C>G | CA516988602 | EFNB1 | c.126C>G (p.Pro42=) | |
X | g.68829902C>T | CA516988601 | EFNB1 | c.126C>T (p.Pro42=) | gnomAD v4 |
X | g.68829903A>C | CA413437234 | EFNB1 | c.127A>C (p.Lys43Gln) | gnomAD v4 |
X | g.68829903A>G | CA413437235 | EFNB1 | c.127A>G (p.Lys43Glu) | gnomAD v4 |
X | g.68829903A>T | CA413437236 | EFNB1 | c.127A>T (p.Lys43Ter) | |
X | g.68829904A>C | CA413437237 | EFNB1 | c.128A>C (p.Lys43Thr) | |
X | g.68829904A>G | CA413437238 | EFNB1 | c.128A>G (p.Lys43Arg) | |
X | g.68829904A>T | CA413437239 | EFNB1 | c.128A>T (p.Lys43Met) | |
X | g.68829905G>A | CA413437240 | EFNB1 | c.128+1G>A (n.128+1G>A) | |
X | g.68829905G>C | CA413437241 | EFNB1 | c.128+1G>C (n.128+1G>C) | ClinVar dbSNP |
X | g.68829905G>T | CA413437242 | EFNB1 | c.128+1G>T (n.128+1G>T) | |
X | g.68829906T>A | CA413437245 | EFNB1 | c.128+2T>A (n.128+2T>A) | ClinVar dbSNP |
X | g.68829906T>C | CA413437244 | EFNB1 | c.128+2T>C (n.128+2T>C) | |
X | g.68829906T>G | CA413437243 | EFNB1 | c.128+2T>G (n.128+2T>G) | |
X | g.68829906T= | CA2435560658 | EFNB1 | c.128+2T= (n.128+2T=) | |
X | g.68829906_68829907insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG | CA2738733766 | EFNB1 | c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG (n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG) | dbSNP |
X | g.68829909G>A | CA1139667615 | EFNB1 | c.128+5G>A (n.128+5G>A) | ClinVar dbSNP |
X | g.68829909G>C | CA2695234407 | EFNB1 | c.128+5G>C (n.128+5G>C) | |
X | g.68829909G= | CA2435560659 | EFNB1 | c.128+5G= (n.128+5G=) | |
X | g.68829910T>A | CA2693969623 | EFNB1 | c.128+6T>A (n.128+6T>A) | gnomAD v4 |
X | g.68829911A>G | CA2693969624 | EFNB1 | c.128+7A>G (n.128+7A>G) | gnomAD v4 |
X | g.68829912A>G | CA2693969625 | EFNB1 | c.128+8A>G (n.128+8A>G) | gnomAD v4 |
X | g.68829913C= | CA2435560660 | EFNB1 | c.128+9C= (n.128+9C=) | |
X | g.68829913C>T | CA2435560661 | EFNB1 | c.128+9C>T (n.128+9C>T) | ClinVar dbSNP |
X | g.68829914T>G | CA2693969627 | EFNB1 | c.128+10T>G (n.128+10T>G) | gnomAD v4 |
X | g.68829914_68829915del | CA2693969626 | EFNB1 | c.128+10_128+11del (n.128+10_128+11del) | gnomAD v4 |
X | g.68829916A= | CA2435560662 | EFNB1 | c.128+12A= (n.128+12A=) | |
X | g.68829916A>G | CA2435560663 | EFNB1 | c.128+12A>G (n.128+12A>G) | dbSNP |
X | g.68829917T>C | CA330857233 | EFNB1 | c.128+13T>C (n.128+13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829917T= | CA2435560664 | EFNB1 | c.128+13T= (n.128+13T=) |