| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.83407097C>A | CA456135615 | SEMA3E | c.633G>T (p.Val211=) c.813G>T (p.Val271=) n.798G>T | |
| 7 | g.83407097C>G | CA456135612 | SEMA3E | c.633G>C (p.Val211=) c.813G>C (p.Val271=) n.798G>C | |
| 7 | g.83407097C>T | CA456135614 | SEMA3E | c.633G>A (p.Val211=) c.813G>A (p.Val271=) n.798G>A | |
| 7 | g.83407098A>C | CA367930150 | SEMA3E | c.632T>G (p.Val211Gly) c.812T>G (p.Val271Gly) n.797T>G | |
| 7 | g.83407098A>G | CA367930151 | SEMA3E | c.632T>C (p.Val211Ala) c.812T>C (p.Val271Ala) n.797T>C | |
| 7 | g.83407098A>T | CA367930152 | SEMA3E | c.632T>A (p.Val211Glu) c.812T>A (p.Val271Glu) n.797T>A | |
| 7 | g.83407099C>A | CA367930153 | SEMA3E | c.631G>T (p.Val211Leu) c.811G>T (p.Val271Leu) n.796G>T | gnomAD v4 |
| 7 | g.83407099C>G | CA367930155 | SEMA3E | c.631G>C (p.Val211Leu) c.811G>C (p.Val271Leu) n.796G>C | |
| 7 | g.83407099C>T | CA367930156 | SEMA3E | c.631G>A (p.Val211Met) c.811G>A (p.Val271Met) n.796G>A | gnomAD v4 |
| 7 | g.83407100A>C | CA367930157 | SEMA3E | c.630T>G (p.Cys210Trp) c.810T>G (p.Cys270Trp) n.795T>G | gnomAD v4 |
| 7 | g.83407100A>G | CA456135622 | SEMA3E | c.630T>C (p.Cys210=) c.810T>C (p.Cys270=) n.795T>C | |
| 7 | g.83407100A>T | CA367930158 | SEMA3E | c.630T>A (p.Cys210Ter) c.810T>A (p.Cys270Ter) n.795T>A | |
| 7 | g.83407101C>A | CA367930160 | SEMA3E | c.629G>T (p.Cys210Phe) c.809G>T (p.Cys270Phe) n.794G>T | |
| 7 | g.83407101C= | CA1721679493 | SEMA3E | c.629G= (p.Cys210=) c.809G= (p.Cys270=) n.794G= | |
| 7 | g.83407101C>G | CA367930161 | SEMA3E | c.629G>C (p.Cys210Ser) c.809G>C (p.Cys270Ser) n.794G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.83407101C>T | CA367930159 | SEMA3E | c.629G>A (p.Cys210Tyr) c.809G>A (p.Cys270Tyr) n.794G>A | |
| 7 | g.83407101_83407103delinsCAG | CA1721679492 | SEMA3E | c.627_629delinsCTG (p.Leu209=) c.807_809delinsCTG (p.Leu269=) n.792_794delinsCTG | |
| 7 | g.83407102A>C | CA367930162 | SEMA3E | c.628T>G (p.Cys210Gly) c.808T>G (p.Cys270Gly) n.793T>G | |
| 7 | g.83407102A>G | CA367930163 | SEMA3E | c.628T>C (p.Cys210Arg) c.808T>C (p.Cys270Arg) n.793T>C | |
| 7 | g.83407102A>T | CA367930164 | SEMA3E | c.628T>A (p.Cys210Ser) c.808T>A (p.Cys270Ser) n.793T>A | |
| 7 | g.83407104_83407105del | CA4322209 | SEMA3E | c.627_628del (p.Val211GlufsTer2) c.807_808del (p.Val271GlufsTer2) n.792_793del | dbSNP ExAC gnomAD v4 |
| 7 | g.83407103G>A | CA4322210 | SEMA3E | c.627C>T (p.Leu209=) c.807C>T (p.Leu269=) n.792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.83407103G>C | CA456135630 | SEMA3E | c.627C>G (p.Leu209=) c.807C>G (p.Leu269=) n.792C>G | |
| 7 | g.83407103G= | CA1721679494 | SEMA3E | c.627C= (p.Leu209=) c.807C= (p.Leu269=) n.792C= | |
| 7 | g.83407103G>T | CA456135632 | SEMA3E | c.627C>A (p.Leu209=) c.807C>A (p.Leu269=) n.792C>A | |
| 7 | g.83407104A= | CA1721679495 | SEMA3E | c.626T= (p.Leu209=) c.806T= (p.Leu269=) n.791T= | |
| 7 | g.83407104A>C | CA161171149 | SEMA3E | c.626T>G (p.Leu209Arg) c.806T>G (p.Leu269Arg) n.791T>G | dbSNP |
| 7 | g.83407104A>G | CA4322211 | SEMA3E | c.626T>C (p.Leu209Pro) c.806T>C (p.Leu269Pro) n.791T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.83407104A>T | CA367930165 | SEMA3E | c.626T>A (p.Leu209His) c.806T>A (p.Leu269His) n.791T>A | |
| 7 | g.83407105G>A | CA367930166 | SEMA3E | c.625C>T (p.Leu209Phe) c.805C>T (p.Leu269Phe) n.790C>T | |
| 7 | g.83407105G>C | CA367930167 | SEMA3E | c.625C>G (p.Leu209Val) c.805C>G (p.Leu269Val) n.790C>G | |
| 7 | g.83407105G>T | CA367930168 | SEMA3E | c.625C>A (p.Leu209Ile) c.805C>A (p.Leu269Ile) n.790C>A | |
| 7 | g.83407106T>A | CA456135640 | SEMA3E | c.624A>T (p.Arg208=) c.804A>T (p.Arg268=) n.789A>T | |
| 7 | g.83407106T>C | CA456135641 | SEMA3E | c.624A>G (p.Arg208=) c.804A>G (p.Arg268=) n.789A>G | |
| 7 | g.83407106T>G | CA456135642 | SEMA3E | c.624A>C (p.Arg208=) c.804A>C (p.Arg268=) n.789A>C | |
| 7 | g.83407107C>A | CA367930169 | SEMA3E | c.623G>T (p.Arg208Leu) c.803G>T (p.Arg268Leu) n.788G>T | |
| 7 | g.83407107C= | CA1721679496 | SEMA3E | c.623G= (p.Arg208=) c.803G= (p.Arg268=) n.788G= | |
| 7 | g.83407107C>G | CA367930170 | SEMA3E | c.623G>C (p.Arg208Pro) c.803G>C (p.Arg268Pro) n.788G>C | |
| 7 | g.83407107C>T | CA4322212 | SEMA3E | c.623G>A (p.Arg208Gln) c.803G>A (p.Arg268Gln) n.788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.83407108G>A | CA367930171 | SEMA3E | c.622C>T (p.Arg208Ter) c.802C>T (p.Arg268Ter) n.787C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.83407108G>C | CA367930172 | SEMA3E | c.622C>G (p.Arg208Gly) c.802C>G (p.Arg268Gly) n.787C>G | |
| 7 | g.83407108G= | CA1721679497 | SEMA3E | c.622C= (p.Arg208=) c.802C= (p.Arg268=) n.787C= | |
| 7 | g.83407108G>T | CA4322213 | SEMA3E | c.622C>A (p.Arg208=) c.802C>A (p.Arg268=) n.787C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.83407109C>A | CA456135649 | SEMA3E | c.621G>T (p.Gly207=) c.801G>T (p.Gly267=) n.786G>T | |
| 7 | g.83407109C= | CA1721679498 | SEMA3E | c.621G= (p.Gly207=) c.801G= (p.Gly267=) n.786G= | |
| 7 | g.83407109C>G | CA456135650 | SEMA3E | c.621G>C (p.Gly207=) c.801G>C (p.Gly267=) n.786G>C | |
| 7 | g.83407109C>T | CA456135651 | SEMA3E | c.621G>A (p.Gly207=) c.801G>A (p.Gly267=) n.786G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.83407110C>A | CA367930173 | SEMA3E | c.620G>T (p.Gly207Val) c.800G>T (p.Gly267Val) n.785G>T | |
| 7 | g.83407110C>G | CA367930174 | SEMA3E | c.620G>C (p.Gly207Ala) c.800G>C (p.Gly267Ala) n.785G>C | |
| 7 | g.83407110C>T | CA367930175 | SEMA3E | c.620G>A (p.Gly207Glu) c.800G>A (p.Gly267Glu) n.785G>A |