| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.83407197T>A | CA367930369 | SEMA3E | c.533A>T (p.Asp178Val) c.713A>T (p.Asp238Val) n.698A>T n.276A>T | |
| 7 | g.83407197T>C | CA367930370 | SEMA3E | c.533A>G (p.Asp178Gly) c.713A>G (p.Asp238Gly) n.698A>G n.276A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.83407197T>G | CA367930371 | SEMA3E | c.533A>C (p.Asp178Ala) c.713A>C (p.Asp238Ala) n.698A>C n.276A>C | |
| 7 | g.83407197T= | CA1721679536 | SEMA3E | c.533A= (p.Asp178=) c.713A= (p.Asp238=) n.698A= n.276A= | |
| 7 | g.83407198C>A | CA367930372 | SEMA3E | c.532G>T (p.Asp178Tyr) c.712G>T (p.Asp238Tyr) n.697G>T n.275G>T | gnomAD v4 |
| 7 | g.83407198C>G | CA367930373 | SEMA3E | c.532G>C (p.Asp178His) c.712G>C (p.Asp238His) n.697G>C n.275G>C | |
| 7 | g.83407198C>T | CA367930374 | SEMA3E | c.532G>A (p.Asp178Asn) c.712G>A (p.Asp238Asn) n.697G>A n.275G>A | |
| 7 | g.83407199T>A | CA367930375 | SEMA3E | c.531A>T (p.Glu177Asp) c.711A>T (p.Glu237Asp) n.696A>T n.274A>T | |
| 7 | g.83407199T>C | CA456135975 | SEMA3E | c.531A>G (p.Glu177=) c.711A>G (p.Glu237=) n.696A>G n.274A>G | |
| 7 | g.83407199T>G | CA367930376 | SEMA3E | c.531A>C (p.Glu177Asp) c.711A>C (p.Glu237Asp) n.696A>C n.274A>C | |
| 7 | g.83407200T>A | CA367930379 | SEMA3E | c.530A>T (p.Glu177Val) c.710A>T (p.Glu237Val) n.695A>T n.273A>T | |
| 7 | g.83407200T>C | CA367930378 | SEMA3E | c.530A>G (p.Glu177Gly) c.710A>G (p.Glu237Gly) n.695A>G n.273A>G | |
| 7 | g.83407200T>G | CA367930377 | SEMA3E | c.530A>C (p.Glu177Ala) c.710A>C (p.Glu237Ala) n.695A>C n.273A>C | |
| 7 | g.83407201C>A | CA367930380 | SEMA3E | c.529G>T (p.Glu177Ter) c.709G>T (p.Glu237Ter) n.694G>T n.272G>T | |
| 7 | g.83407201C>G | CA367930381 | SEMA3E | c.529G>C (p.Glu177Gln) c.709G>C (p.Glu237Gln) n.694G>C n.272G>C | |
| 7 | g.83407201C>T | CA367930382 | SEMA3E | c.529G>A (p.Glu177Lys) c.709G>A (p.Glu237Lys) n.694G>A n.272G>A | gnomAD v4 |
| 7 | g.83407202A= | CA1721679537 | SEMA3E | c.528T= (p.Asn176=) c.708T= (p.Asn236=) n.693T= n.271T= | |
| 7 | g.83407202A>C | CA367930383 | SEMA3E | c.528T>G (p.Asn176Lys) c.708T>G (p.Asn236Lys) n.693T>G n.271T>G | |
| 7 | g.83407202A>G | CA456135983 | SEMA3E | c.528T>C (p.Asn176=) c.708T>C (p.Asn236=) n.693T>C n.271T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.83407202A>T | CA367930384 | SEMA3E | c.528T>A (p.Asn176Lys) c.708T>A (p.Asn236Lys) n.693T>A n.271T>A | |
| 7 | g.83407203T>A | CA4322235 | SEMA3E | c.527A>T (p.Asn176Ile) c.707A>T (p.Asn236Ile) n.692A>T n.270A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.83407203T>C | CA4322234 | SEMA3E | c.527A>G (p.Asn176Ser) c.707A>G (p.Asn236Ser) n.692A>G n.270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.83407203T>G | CA367930385 | SEMA3E | c.527A>C (p.Asn176Thr) c.707A>C (p.Asn236Thr) n.692A>C n.270A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.83407203T= | CA1721679538 | SEMA3E | c.527A= (p.Asn176=) c.707A= (p.Asn236=) n.692A= n.270A= | |
| 7 | g.83407204T>A | CA367930386 | SEMA3E | c.526A>T (p.Asn176Tyr) c.706A>T (p.Asn236Tyr) n.691A>T n.269A>T | |
| 7 | g.83407204T>C | CA367930387 | SEMA3E | c.526A>G (p.Asn176Asp) c.706A>G (p.Asn236Asp) n.691A>G n.269A>G | |
| 7 | g.83407204T>G | CA367930388 | SEMA3E | c.526A>C (p.Asn176His) c.706A>C (p.Asn236His) n.691A>C n.269A>C | |
| 7 | g.83407205G>A | CA456135993 | SEMA3E | c.525C>T (p.Asp175=) c.705C>T (p.Asp235=) n.690C>T n.268C>T | dbSNP |
| 7 | g.83407205G>C | CA367930389 | SEMA3E | c.525C>G (p.Asp175Glu) c.705C>G (p.Asp235Glu) n.690C>G n.268C>G | |
| 7 | g.83407205G= | CA1721679539 | SEMA3E | c.525C= (p.Asp175=) c.705C= (p.Asp235=) n.690C= n.268C= | |
| 7 | g.83407205G>T | CA367930390 | SEMA3E | c.525C>A (p.Asp175Glu) c.705C>A (p.Asp235Glu) n.690C>A n.268C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.83407206T>A | CA367930391 | SEMA3E | c.524A>T (p.Asp175Val) c.704A>T (p.Asp235Val) n.689A>T n.267A>T | |
| 7 | g.83407206T>C | CA367930393 | SEMA3E | c.524A>G (p.Asp175Gly) c.704A>G (p.Asp235Gly) n.689A>G n.267A>G | |
| 7 | g.83407206T>G | CA367930392 | SEMA3E | c.524A>C (p.Asp175Ala) c.704A>C (p.Asp235Ala) n.689A>C n.267A>C | |
| 7 | g.83407207C>A | CA367930394 | SEMA3E | c.523G>T (p.Asp175Tyr) c.703G>T (p.Asp235Tyr) n.688G>T n.266G>T | |
| 7 | g.83407207C>G | CA367930395 | SEMA3E | c.523G>C (p.Asp175His) c.703G>C (p.Asp235His) n.688G>C n.266G>C | |
| 7 | g.83407207C>T | CA367930396 | SEMA3E | c.523G>A (p.Asp175Asn) c.703G>A (p.Asp235Asn) n.688G>A n.266G>A | |
| 7 | g.83407208A>C | CA456136004 | SEMA3E | c.522T>G (p.Pro174=) c.702T>G (p.Pro234=) n.687T>G n.265T>G | |
| 7 | g.83407208A>G | CA456136005 | SEMA3E | c.522T>C (p.Pro174=) c.702T>C (p.Pro234=) n.687T>C n.265T>C | gnomAD v4 |
| 7 | g.83407208A>T | CA456136006 | SEMA3E | c.522T>A (p.Pro174=) c.702T>A (p.Pro234=) n.687T>A n.265T>A | |
| 7 | g.83407209G>A | CA367930397 | SEMA3E | c.521C>T (p.Pro174Leu) c.701C>T (p.Pro234Leu) n.686C>T n.264C>T | dbSNP gnomAD v2 |
| 7 | g.83407209G>C | CA367930398 | SEMA3E | c.521C>G (p.Pro174Arg) c.701C>G (p.Pro234Arg) n.686C>G n.264C>G | |
| 7 | g.83407209G= | CA1721679540 | SEMA3E | c.521C= (p.Pro174=) c.701C= (p.Pro234=) n.686C= n.264C= | |
| 7 | g.83407209G>T | CA367930399 | SEMA3E | c.521C>A (p.Pro174His) c.701C>A (p.Pro234His) n.686C>A n.264C>A | |
| 7 | g.83407210G>A | CA367930400 | SEMA3E | c.520C>T (p.Pro174Ser) c.700C>T (p.Pro234Ser) n.685C>T n.263C>T | |
| 7 | g.83407210G>C | CA367930401 | SEMA3E | c.520C>G (p.Pro174Ala) c.700C>G (p.Pro234Ala) n.685C>G n.263C>G | |
| 7 | g.83407210G>T | CA367930402 | SEMA3E | c.520C>A (p.Pro174Thr) c.700C>A (p.Pro234Thr) n.685C>A n.263C>A | |
| 7 | g.83407211A= | CA1721679541 | SEMA3E | c.519T= (p.Ile173=) c.699T= (p.Ile233=) n.684T= n.262T= | |
| 7 | g.83407211A>C | CA367930403 | SEMA3E | c.519T>G (p.Ile173Met) c.699T>G (p.Ile233Met) n.684T>G n.262T>G | |
| 7 | g.83407211A>G | CA456136015 | SEMA3E | c.519T>C (p.Ile173=) c.699T>C (p.Ile233=) n.684T>C n.262T>C |