Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.83407091C= | CA1721679491 | SEMA3E | c.633+6G= (n.633+6G=) c.813+6G= (n.813+6G=) n.798+6G= | |
7 | g.83407091C>G | CA843003553 | SEMA3E | c.633+6G>C (n.633+6G>C) c.813+6G>C (n.813+6G>C) n.798+6G>C | dbSNP |
7 | g.83407091C>T | CA4322208 | SEMA3E | c.633+6G>A (n.633+6G>A) c.813+6G>A (n.813+6G>A) n.798+6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407092C>T | CA2683557408 | SEMA3E | c.633+5G>A (n.633+5G>A) c.813+5G>A (n.813+5G>A) n.798+5G>A | gnomAD v4 |
7 | g.83407093T>G | CA2578928272 | SEMA3E | c.633+4A>C (n.633+4A>C) c.813+4A>C (n.813+4A>C) n.798+4A>C | |
7 | g.83407095A>C | CA367930145 | SEMA3E | c.633+2T>G (n.633+2T>G) c.813+2T>G (n.813+2T>G) n.798+2T>G | |
7 | g.83407095A>G | CA367930146 | SEMA3E | c.633+2T>C (n.633+2T>C) c.813+2T>C (n.813+2T>C) n.798+2T>C | |
7 | g.83407095A>T | CA367930144 | SEMA3E | c.633+2T>A (n.633+2T>A) c.813+2T>A (n.813+2T>A) n.798+2T>A | |
7 | g.83407096C>A | CA367930147 | SEMA3E | c.633+1G>T (n.633+1G>T) c.813+1G>T (n.813+1G>T) n.798+1G>T | |
7 | g.83407096C>G | CA367930148 | SEMA3E | c.633+1G>C (n.633+1G>C) c.813+1G>C (n.813+1G>C) n.798+1G>C | |
7 | g.83407096C>T | CA367930149 | SEMA3E | c.633+1G>A (n.633+1G>A) c.813+1G>A (n.813+1G>A) n.798+1G>A | gnomAD v4 |
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 | |
7 | g.83407111C>A | CA367930176 | SEMA3E | c.619G>T (p.Gly207Trp) c.799G>T (p.Gly267Trp) n.784G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.83407111C= | CA1721679499 | SEMA3E | c.619G= (p.Gly207=) c.799G= (p.Gly267=) n.784G= | |
7 | g.83407111C>G | CA367930177 | SEMA3E | c.619G>C (p.Gly207Arg) c.799G>C (p.Gly267Arg) n.784G>C | |
7 | g.83407111C>T | CA4322214 | SEMA3E | c.619G>A (p.Gly207Arg) c.799G>A (p.Gly267Arg) n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407112G>A | CA456135657 | SEMA3E | c.618C>T (p.Val206=) c.798C>T (p.Val266=) n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407112G>C | CA456135658 | SEMA3E | c.618C>G (p.Val206=) c.798C>G (p.Val266=) n.783C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407112G= | CA1721679500 | SEMA3E | c.618C= (p.Val206=) c.798C= (p.Val266=) n.783C= | |
7 | g.83407112G>T | CA456135660 | SEMA3E | c.618C>A (p.Val206=) c.798C>A (p.Val266=) n.783C>A | |
7 | g.83407113A>C | CA367930180 | SEMA3E | c.617T>G (p.Val206Gly) c.797T>G (p.Val266Gly) n.782T>G | |
7 | g.83407113A>G | CA367930178 | SEMA3E | c.617T>C (p.Val206Ala) c.797T>C (p.Val266Ala) n.782T>C | |
7 | g.83407113A>T | CA367930179 | SEMA3E | c.617T>A (p.Val206Asp) c.797T>A (p.Val266Asp) n.782T>A | |
7 | g.83407114C>A | CA367930181 | SEMA3E | c.616G>T (p.Val206Phe) c.796G>T (p.Val266Phe) n.781G>T | |
7 | g.83407114C= | CA1721679501 | SEMA3E | c.616G= (p.Val206=) c.796G= (p.Val266=) n.781G= | |
7 | g.83407114C>G | CA367930182 | SEMA3E | c.616G>C (p.Val206Leu) c.796G>C (p.Val266Leu) n.781G>C | |
7 | g.83407114C>T | CA4322215 | SEMA3E | c.616G>A (p.Val206Ile) c.796G>A (p.Val266Ile) n.781G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407115C>A | CA367930183 | SEMA3E | c.615G>T (p.Arg205Ser) c.795G>T (p.Arg265Ser) n.780G>T | ClinVar dbSNP |
7 | g.83407115C>G | CA367930184 | SEMA3E | c.615G>C (p.Arg205Ser) c.795G>C (p.Arg265Ser) n.780G>C | |
7 | g.83407115C>T | CA456135668 | SEMA3E | c.615G>A (p.Arg205=) c.795G>A (p.Arg265=) n.780G>A | |
7 | g.83407116C>A | CA367930187 | SEMA3E | c.614G>T (p.Arg205Met) c.794G>T (p.Arg265Met) n.779G>T | |
7 | g.83407116C>G | CA367930185 | SEMA3E | c.614G>C (p.Arg205Thr) c.794G>C (p.Arg265Thr) n.779G>C | |
7 | g.83407116C>T | CA367930186 | SEMA3E | c.614G>A (p.Arg205Lys) c.794G>A (p.Arg265Lys) n.779G>A | |
7 | g.83407117T>A | CA367930188 | SEMA3E | c.613A>T (p.Arg205Trp) c.793A>T (p.Arg265Trp) n.778A>T | |
7 | g.83407117T>C | CA367930189 | SEMA3E | c.613A>G (p.Arg205Gly) c.793A>G (p.Arg265Gly) n.778A>G | ClinVar dbSNP |
7 | g.83407117T>G | CA456135676 | SEMA3E | c.613A>C (p.Arg205=) c.793A>C (p.Arg265=) n.778A>C | |
7 | g.83407118G>A | CA456135678 | SEMA3E | c.612C>T (p.Thr204=) c.792C>T (p.Thr264=) n.777C>T | gnomAD v4 |
7 | g.83407118G>C | CA456135680 | SEMA3E | c.612C>G (p.Thr204=) c.792C>G (p.Thr264=) n.777C>G | |
7 | g.83407118G= | CA1721679502 | SEMA3E | c.612C= (p.Thr204=) c.792C= (p.Thr264=) n.777C= | |
7 | g.83407118G>T | CA456135681 | SEMA3E | c.612C>A (p.Thr204=) c.792C>A (p.Thr264=) n.777C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407119G>A | CA367930190 | SEMA3E | c.611C>T (p.Thr204Ile) c.791C>T (p.Thr264Ile) n.776C>T | |
7 | g.83407119G>C | CA4322216 | SEMA3E | c.611C>G (p.Thr204Ser) c.791C>G (p.Thr264Ser) n.776C>G | dbSNP ExAC gnomAD v4 |
7 | g.83407119G= | CA1721679503 | SEMA3E | c.611C= (p.Thr204=) c.791C= (p.Thr264=) n.776C= | |
7 | g.83407119G>T | CA367930191 | SEMA3E | c.611C>A (p.Thr204Asn) c.791C>A (p.Thr264Asn) n.776C>A | |
7 | g.83407120T>A | CA367930192 | SEMA3E | c.610A>T (p.Thr204Ser) c.790A>T (p.Thr264Ser) n.775A>T | |
7 | g.83407120T>C | CA367930193 | SEMA3E | c.610A>G (p.Thr204Ala) c.790A>G (p.Thr264Ala) n.775A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407120T>G | CA367930194 | SEMA3E | c.610A>C (p.Thr204Pro) c.790A>C (p.Thr264Pro) n.775A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407120T= | CA1721679504 | SEMA3E | c.610A= (p.Thr204=) c.790A= (p.Thr264=) n.775A= | |
7 | g.83407121G>A | CA456135691 | SEMA3E | c.609C>T (p.Tyr203=) c.789C>T (p.Tyr263=) n.774C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407121G>C | CA367930195 | SEMA3E | c.609C>G (p.Tyr203Ter) c.789C>G (p.Tyr263Ter) n.774C>G | |
7 | g.83407121G= | CA1721679505 | SEMA3E | c.609C= (p.Tyr203=) c.789C= (p.Tyr263=) n.774C= | |
7 | g.83407121G>T | CA367930196 | SEMA3E | c.609C>A (p.Tyr203Ter) c.789C>A (p.Tyr263Ter) n.774C>A | |
7 | g.83407122T>A | CA367930197 | SEMA3E | c.608A>T (p.Tyr203Phe) c.788A>T (p.Tyr263Phe) n.773A>T | |
7 | g.83407122T>C | CA367930198 | SEMA3E | c.608A>G (p.Tyr203Cys) c.788A>G (p.Tyr263Cys) n.773A>G | |
7 | g.83407122T>G | CA367930199 | SEMA3E | c.608A>C (p.Tyr203Ser) c.788A>C (p.Tyr263Ser) n.773A>C | |
7 | g.83407123A>C | CA367930200 | SEMA3E | c.607T>G (p.Tyr203Asp) c.787T>G (p.Tyr263Asp) n.772T>G | |
7 | g.83407123A>G | CA367930202 | SEMA3E | c.607T>C (p.Tyr203His) c.787T>C (p.Tyr263His) n.772T>C | |
7 | g.83407123A>T | CA367930201 | SEMA3E | c.607T>A (p.Tyr203Asn) c.787T>A (p.Tyr263Asn) n.772T>A | |
7 | g.83407125del | CA2683557409 | SEMA3E | c.607del (p.Tyr203ThrfsTer9) c.787del (p.Tyr263ThrfsTer9) n.772del | gnomAD v4 |
7 | g.83407124A>C | CA367930203 | SEMA3E | c.606T>G (p.Ile202Met) c.786T>G (p.Ile262Met) n.771T>G | gnomAD v4 |
7 | g.83407124A>G | CA456135700 | SEMA3E | c.606T>C (p.Ile202=) c.786T>C (p.Ile262=) n.771T>C | |
7 | g.83407124A>T | CA456135698 | SEMA3E | c.606T>A (p.Ile202=) c.786T>A (p.Ile262=) n.771T>A | |
7 | g.83407125A>C | CA367930204 | SEMA3E | c.605T>G (p.Ile202Ser) c.785T>G (p.Ile262Ser) n.770T>G | |
7 | g.83407125A>G | CA367930205 | SEMA3E | c.605T>C (p.Ile202Thr) c.785T>C (p.Ile262Thr) n.770T>C | |
7 | g.83407125A>T | CA367930206 | SEMA3E | c.605T>A (p.Ile202Asn) c.785T>A (p.Ile262Asn) n.770T>A | |
7 | g.83407126T>A | CA367930207 | SEMA3E | c.604A>T (p.Ile202Phe) c.784A>T (p.Ile262Phe) n.769A>T | gnomAD v4 |
7 | g.83407126T>C | CA367930208 | SEMA3E | c.604A>G (p.Ile202Val) c.784A>G (p.Ile262Val) n.769A>G | |
7 | g.83407126T>G | CA367930209 | SEMA3E | c.604A>C (p.Ile202Leu) c.784A>C (p.Ile262Leu) n.769A>C | |
7 | g.83407127T>A | CA456135709 | SEMA3E | c.603A>T (p.Ala201=) c.783A>T (p.Ala261=) n.768A>T | |
7 | g.83407127T>C | CA456135711 | SEMA3E | c.603A>G (p.Ala201=) c.783A>G (p.Ala261=) n.768A>G | |
7 | g.83407127T>G | CA456135713 | SEMA3E | c.603A>C (p.Ala201=) c.783A>C (p.Ala261=) n.768A>C | |
7 | g.83407128G>A | CA367930210 | SEMA3E | c.602C>T (p.Ala201Val) c.782C>T (p.Ala261Val) n.767C>T | |
7 | g.83407128G>C | CA367930211 | SEMA3E | c.602C>G (p.Ala201Gly) c.782C>G (p.Ala261Gly) n.767C>G | gnomAD v4 |
7 | g.83407128G>T | CA367930212 | SEMA3E | c.602C>A (p.Ala201Glu) c.782C>A (p.Ala261Glu) n.767C>A | |
7 | g.83407129C>A | CA367930213 | SEMA3E | c.601G>T (p.Ala201Ser) c.781G>T (p.Ala261Ser) n.766G>T | dbSNP gnomAD v2 |
7 | g.83407129C= | CA1721679506 | SEMA3E | c.601G= (p.Ala201=) c.781G= (p.Ala261=) n.766G= | |
7 | g.83407129C>G | CA4322217 | SEMA3E | c.601G>C (p.Ala201Pro) c.781G>C (p.Ala261Pro) n.766G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407129C>T | CA4322218 | SEMA3E | c.601G>A (p.Ala201Thr) c.781G>A (p.Ala261Thr) n.766G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.83407130G>A | CA4322219 | SEMA3E | c.600C>T (p.His200=) c.780C>T (p.His260=) n.765C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407130G>C | CA367930214 | SEMA3E | c.600C>G (p.His200Gln) c.780C>G (p.His260Gln) n.765C>G | dbSNP gnomAD v4 |
7 | g.83407130G= | CA1721679507 | SEMA3E | c.600C= (p.His200=) c.780C= (p.His260=) n.765C= | |
7 | g.83407130G>T | CA4322220 | SEMA3E | c.600C>A (p.His200Gln) c.780C>A (p.His260Gln) n.765C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407131T>A | CA367930215 | SEMA3E | c.599A>T (p.His200Leu) c.779A>T (p.His260Leu) n.764A>T | |
7 | g.83407131T>C | CA367930216 | SEMA3E | c.599A>G (p.His200Arg) c.779A>G (p.His260Arg) n.764A>G | |
7 | g.83407131T>G | CA367930217 | SEMA3E | c.599A>C (p.His200Pro) c.779A>C (p.His260Pro) n.764A>C | |
7 | g.83407132G>A | CA367930218 | SEMA3E | c.598C>T (p.His200Tyr) c.778C>T (p.His260Tyr) n.763C>T | |
7 | g.83407132G>C | CA367930219 | SEMA3E | c.598C>G (p.His200Asp) c.778C>G (p.His260Asp) n.763C>G | gnomAD v4 |
7 | g.83407132G>T | CA367930220 | SEMA3E | c.598C>A (p.His200Asn) c.778C>A (p.His260Asn) n.763C>A | gnomAD v4 |
7 | g.83407133A>C | CA456135731 | SEMA3E | c.597T>G (p.Ala199=) c.777T>G (p.Ala259=) n.762T>G | |
7 | g.83407133A>G | CA456135732 | SEMA3E | c.597T>C (p.Ala199=) c.777T>C (p.Ala259=) n.762T>C | |
7 | g.83407133A>T | CA456135734 | SEMA3E | c.597T>A (p.Ala199=) c.777T>A (p.Ala259=) n.762T>A | |
7 | g.83407134G>A | CA367930221 | SEMA3E | c.596C>T (p.Ala199Val) c.776C>T (p.Ala259Val) n.761C>T | gnomAD v4 |
7 | g.83407134G>C | CA367930222 | SEMA3E | c.596C>G (p.Ala199Gly) c.776C>G (p.Ala259Gly) n.761C>G | |
7 | g.83407134G>T | CA367930223 | SEMA3E | c.596C>A (p.Ala199Asp) c.776C>A (p.Ala259Asp) n.761C>A | |
7 | g.83407135C>A | CA367930224 | SEMA3E | c.595G>T (p.Ala199Ser) c.775G>T (p.Ala259Ser) n.760G>T | |
7 | g.83407135C>G | CA367930225 | SEMA3E | c.595G>C (p.Ala199Pro) c.775G>C (p.Ala259Pro) n.760G>C | |
7 | g.83407135C>T | CA367930226 | SEMA3E | c.595G>A (p.Ala199Thr) c.775G>A (p.Ala259Thr) n.760G>A | |
7 | g.83407136A= | CA1721679508 | SEMA3E | c.594T= (p.Asn198=) c.774T= (p.Asn258=) n.759T= | |
7 | g.83407136A>C | CA367930228 | SEMA3E | c.594T>G (p.Asn198Lys) c.774T>G (p.Asn258Lys) n.759T>G | |
7 | g.83407136A>G | CA456135744 | SEMA3E | c.594T>C (p.Asn198=) c.774T>C (p.Asn258=) n.759T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407136A>T | CA367930227 | SEMA3E | c.594T>A (p.Asn198Lys) c.774T>A (p.Asn258Lys) n.759T>A | |
7 | g.83407137T>A | CA367930229 | SEMA3E | c.593A>T (p.Asn198Ile) c.773A>T (p.Asn258Ile) n.758A>T | |
7 | g.83407137T>C | CA367930231 | SEMA3E | c.593A>G (p.Asn198Ser) c.773A>G (p.Asn258Ser) n.758A>G | |
7 | g.83407137T>G | CA367930230 | SEMA3E | c.593A>C (p.Asn198Thr) c.773A>C (p.Asn258Thr) n.758A>C | |
7 | g.83407138T>A | CA367930232 | SEMA3E | c.592A>T (p.Asn198Tyr) c.772A>T (p.Asn258Tyr) n.757A>T | |
7 | g.83407138T>C | CA367930234 | SEMA3E | c.592A>G (p.Asn198Asp) c.772A>G (p.Asn258Asp) n.757A>G | |
7 | g.83407138T>G | CA367930233 | SEMA3E | c.592A>C (p.Asn198His) c.772A>C (p.Asn258His) n.757A>C | |
7 | g.83407139G>A | CA456135753 | SEMA3E | c.591C>T (p.Asn197=) c.771C>T (p.Asn257=) n.756C>T | |
7 | g.83407139G>C | CA367930235 | SEMA3E | c.591C>G (p.Asn197Lys) c.771C>G (p.Asn257Lys) n.756C>G | |
7 | g.83407139G>T | CA367930236 | SEMA3E | c.591C>A (p.Asn197Lys) c.771C>A (p.Asn257Lys) n.756C>A | |
7 | g.83407140T>A | CA367930237 | SEMA3E | c.590A>T (p.Asn197Ile) c.770A>T (p.Asn257Ile) n.755A>T n.333A>T | |
7 | g.83407140T>C | CA367930238 | SEMA3E | c.590A>G (p.Asn197Ser) c.770A>G (p.Asn257Ser) n.755A>G n.333A>G | |
7 | g.83407140T>G | CA367930239 | SEMA3E | c.590A>C (p.Asn197Thr) c.770A>C (p.Asn257Thr) n.755A>C n.333A>C | |
7 | g.83407141T>A | CA367930240 | SEMA3E | c.589A>T (p.Asn197Tyr) c.769A>T (p.Asn257Tyr) n.754A>T n.332A>T | |
7 | g.83407141T>C | CA367930241 | SEMA3E | c.589A>G (p.Asn197Asp) c.769A>G (p.Asn257Asp) n.754A>G n.332A>G | gnomAD v4 |
7 | g.83407141T>G | CA367930242 | SEMA3E | c.589A>C (p.Asn197His) c.769A>C (p.Asn257His) n.754A>C n.332A>C | |
7 | g.83407142T>A | CA367930243 | SEMA3E | c.588A>T (p.Glu196Asp) c.768A>T (p.Glu256Asp) n.753A>T n.331A>T | |
7 | g.83407142T>C | CA456135766 | SEMA3E | c.588A>G (p.Glu196=) c.768A>G (p.Glu256=) n.753A>G n.331A>G | |
7 | g.83407142T>G | CA367930244 | SEMA3E | c.588A>C (p.Glu196Asp) c.768A>C (p.Glu256Asp) n.753A>C n.331A>C | |
7 | g.83407143T>A | CA367930245 | SEMA3E | c.587A>T (p.Glu196Val) c.767A>T (p.Glu256Val) n.752A>T n.330A>T | |
7 | g.83407143T>C | CA367930246 | SEMA3E | c.587A>G (p.Glu196Gly) c.767A>G (p.Glu256Gly) n.752A>G n.330A>G | |
7 | g.83407143T>G | CA4322221 | SEMA3E | c.587A>C (p.Glu196Ala) c.767A>C (p.Glu256Ala) n.752A>C n.330A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.83407143T= | CA1721679509 | SEMA3E | c.587A= (p.Glu196=) c.767A= (p.Glu256=) n.752A= n.330A= | |
7 | g.83407144C>A | CA367930247 | SEMA3E | c.586G>T (p.Glu196Ter) c.766G>T (p.Glu256Ter) n.751G>T n.329G>T | |
7 | g.83407144C>G | CA367930249 | SEMA3E | c.586G>C (p.Glu196Gln) c.766G>C (p.Glu256Gln) n.751G>C n.329G>C | |
7 | g.83407144C>T | CA367930248 | SEMA3E | c.586G>A (p.Glu196Lys) c.766G>A (p.Glu256Lys) n.751G>A n.329G>A | |
7 | g.83407145T>A | CA456135777 | SEMA3E | c.585A>T (p.Ala195=) c.765A>T (p.Ala255=) n.750A>T n.328A>T | |
7 | g.83407145T>C | CA456135775 | SEMA3E | c.585A>G (p.Ala195=) c.765A>G (p.Ala255=) n.750A>G n.328A>G | |
7 | g.83407145T>G | CA4322222 | SEMA3E | c.585A>C (p.Ala195=) c.765A>C (p.Ala255=) n.750A>C n.328A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407145T= | CA1721679510 | SEMA3E | c.585A= (p.Ala195=) c.765A= (p.Ala255=) n.750A= n.328A= | |
7 | g.83407150_83407158del | CA2715075576 | SEMA3E | c.577_585del (p.Leu193_Ala195del) c.757_765del (p.Leu253_Ala255del) n.742_750del n.320_328del | dbSNP |
7 | g.83407146G>A | CA367930250 | SEMA3E | c.584C>T (p.Ala195Val) c.764C>T (p.Ala255Val) n.749C>T n.327C>T | |
7 | g.83407146G>C | CA367930251 | SEMA3E | c.584C>G (p.Ala195Gly) c.764C>G (p.Ala255Gly) n.749C>G n.327C>G | |
7 | g.83407146G>T | CA367930252 | SEMA3E | c.584C>A (p.Ala195Glu) c.764C>A (p.Ala255Glu) n.749C>A n.327C>A | |
7 | g.83407147C>A | CA367930253 | SEMA3E | c.583G>T (p.Ala195Ser) c.763G>T (p.Ala255Ser) n.748G>T n.326G>T | |
7 | g.83407147C>G | CA367930254 | SEMA3E | c.583G>C (p.Ala195Pro) c.763G>C (p.Ala255Pro) n.748G>C n.326G>C | |
7 | g.83407147C>T | CA367930255 | SEMA3E | c.583G>A (p.Ala195Thr) c.763G>A (p.Ala255Thr) n.748G>A n.326G>A | |
7 | g.83407148C>A | CA367930256 | SEMA3E | c.582G>T (p.Glu194Asp) c.762G>T (p.Glu254Asp) n.747G>T n.325G>T | |
7 | g.83407148C>G | CA367930257 | SEMA3E | c.582G>C (p.Glu194Asp) c.762G>C (p.Glu254Asp) n.747G>C n.325G>C | gnomAD v4 |
7 | g.83407148C>T | CA456135786 | SEMA3E | c.582G>A (p.Glu194=) c.762G>A (p.Glu254=) n.747G>A n.325G>A | |
7 | g.83407149T>A | CA367930260 | SEMA3E | c.581A>T (p.Glu194Val) c.761A>T (p.Glu254Val) n.746A>T n.324A>T | COSMIC |
7 | g.83407149T>C | CA367930259 | SEMA3E | c.581A>G (p.Glu194Gly) c.761A>G (p.Glu254Gly) n.746A>G n.324A>G | |
7 | g.83407149T>G | CA367930258 | SEMA3E | c.581A>C (p.Glu194Ala) c.761A>C (p.Glu254Ala) n.746A>C n.324A>C | |
7 | g.83407150C>A | CA367930261 | SEMA3E | c.580G>T (p.Glu194Ter) c.760G>T (p.Glu254Ter) n.745G>T n.323G>T | |
7 | g.83407150C= | CA1721679511 | SEMA3E | c.580G= (p.Glu194=) c.760G= (p.Glu254=) n.745G= n.323G= | |
7 | g.83407150C>G | CA4322223 | SEMA3E | c.580G>C (p.Glu194Gln) c.760G>C (p.Glu254Gln) n.745G>C n.323G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407150C>T | CA367930262 | SEMA3E | c.580G>A (p.Glu194Lys) c.760G>A (p.Glu254Lys) n.745G>A n.323G>A | gnomAD v4 |
7 | g.83407151C>A | CA456135794 | SEMA3E | c.579G>T (p.Leu193=) c.759G>T (p.Leu253=) n.744G>T n.322G>T | |
7 | g.83407151C>G | CA456135797 | SEMA3E | c.579G>C (p.Leu193=) c.759G>C (p.Leu253=) n.744G>C n.322G>C | |
7 | g.83407151C>T | CA456135795 | SEMA3E | c.579G>A (p.Leu193=) c.759G>A (p.Leu253=) n.744G>A n.322G>A | |
7 | g.83407152A= | CA1721679512 | SEMA3E | c.578T= (p.Leu193=) c.758T= (p.Leu253=) n.743T= n.321T= | |
7 | g.83407152A>C | CA367930263 | SEMA3E | c.578T>G (p.Leu193Arg) c.758T>G (p.Leu253Arg) n.743T>G n.321T>G | |
7 | g.83407152A>G | CA367930264 | SEMA3E | c.578T>C (p.Leu193Pro) c.758T>C (p.Leu253Pro) n.743T>C n.321T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407152A>T | CA367930265 | SEMA3E | c.578T>A (p.Leu193Gln) c.758T>A (p.Leu253Gln) n.743T>A n.321T>A | dbSNP |
7 | g.83407153G>A | CA456135803 | SEMA3E | c.577C>T (p.Leu193=) c.757C>T (p.Leu253=) n.742C>T n.320C>T | |
7 | g.83407153G>C | CA367930266 | SEMA3E | c.577C>G (p.Leu193Val) c.757C>G (p.Leu253Val) n.742C>G n.320C>G | |
7 | g.83407153G= | CA1721679513 | SEMA3E | c.577C= (p.Leu193=) c.757C= (p.Leu253=) n.742C= n.320C= | |
7 | g.83407153G>T | CA367930267 | SEMA3E | c.577C>A (p.Leu193Met) c.757C>A (p.Leu253Met) n.742C>A n.320C>A | dbSNP |
7 | g.83407154T>A | CA456135807 | SEMA3E | c.576A>T (p.Ala192=) c.756A>T (p.Ala252=) n.741A>T n.319A>T | |
7 | g.83407154T>C | CA456135808 | SEMA3E | c.576A>G (p.Ala192=) c.756A>G (p.Ala252=) n.741A>G n.319A>G | |
7 | g.83407154T>G | CA456135810 | SEMA3E | c.576A>C (p.Ala192=) c.756A>C (p.Ala252=) n.741A>C n.319A>C | |
7 | g.83407155G>A | CA4322224 | SEMA3E | c.575C>T (p.Ala192Val) c.755C>T (p.Ala252Val) n.740C>T n.318C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407155G>C | CA367930268 | SEMA3E | c.575C>G (p.Ala192Gly) c.755C>G (p.Ala252Gly) n.740C>G n.318C>G | |
7 | g.83407155G= | CA1721679514 | SEMA3E | c.575C= (p.Ala192=) c.755C= (p.Ala252=) n.740C= n.318C= | |
7 | g.83407155G>T | CA367930269 | SEMA3E | c.575C>A (p.Ala192Glu) c.755C>A (p.Ala252Glu) n.740C>A n.318C>A | |
7 | g.83407156C>A | CA4322225 | SEMA3E | c.574G>T (p.Ala192Ser) c.754G>T (p.Ala252Ser) n.739G>T n.317G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407156C= | CA1721679515 | SEMA3E | c.574G= (p.Ala192=) c.754G= (p.Ala252=) n.739G= n.317G= | |
7 | g.83407156C>G | CA367930271 | SEMA3E | c.574G>C (p.Ala192Pro) c.754G>C (p.Ala252Pro) n.739G>C n.317G>C | |
7 | g.83407156C>T | CA367930270 | SEMA3E | c.574G>A (p.Ala192Thr) c.754G>A (p.Ala252Thr) n.739G>A n.317G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407157C>A | CA367930272 | SEMA3E | c.573G>T (p.Lys191Asn) c.753G>T (p.Lys251Asn) n.738G>T n.316G>T | |
7 | g.83407157C= | CA1721679516 | SEMA3E | c.573G= (p.Lys191=) c.753G= (p.Lys251=) n.738G= n.316G= | |
7 | g.83407157C>G | CA367930273 | SEMA3E | c.573G>C (p.Lys191Asn) c.753G>C (p.Lys251Asn) n.738G>C n.316G>C | |
7 | g.83407157C>T | CA456135820 | SEMA3E | c.573G>A (p.Lys191=) c.753G>A (p.Lys251=) n.738G>A n.316G>A | dbSNP gnomAD v2 |
7 | g.83407158T>A | CA367930274 | SEMA3E | c.572A>T (p.Lys191Met) c.752A>T (p.Lys251Met) n.737A>T n.315A>T | |
7 | g.83407158T>C | CA367930275 | SEMA3E | c.572A>G (p.Lys191Arg) c.752A>G (p.Lys251Arg) n.737A>G n.315A>G | |
7 | g.83407158T>G | CA367930276 | SEMA3E | c.572A>C (p.Lys191Thr) c.752A>C (p.Lys251Thr) n.737A>C n.315A>C | |
7 | g.83407159T>A | CA367930277 | SEMA3E | c.571A>T (p.Lys191Ter) c.751A>T (p.Lys251Ter) n.736A>T n.314A>T | dbSNP |
7 | g.83407159T>C | CA367930278 | SEMA3E | c.571A>G (p.Lys191Glu) c.751A>G (p.Lys251Glu) n.736A>G n.314A>G | |
7 | g.83407159T>G | CA367930279 | SEMA3E | c.571A>C (p.Lys191Gln) c.751A>C (p.Lys251Gln) n.736A>C n.314A>C | |
7 | g.83407160C>A | CA367930280 | SEMA3E | c.570G>T (p.Glu190Asp) c.750G>T (p.Glu250Asp) n.735G>T n.313G>T | |
7 | g.83407160C= | CA1721679517 | SEMA3E | c.570G= (p.Glu190=) c.750G= (p.Glu250=) n.735G= n.313G= | |
7 | g.83407160C>G | CA367930281 | SEMA3E | c.570G>C (p.Glu190Asp) c.750G>C (p.Glu250Asp) n.735G>C n.313G>C | |
7 | g.83407160C>T | CA456135832 | SEMA3E | c.570G>A (p.Glu190=) c.750G>A (p.Glu250=) n.735G>A n.313G>A | dbSNP |
7 | g.83407161T>A | CA367930282 | SEMA3E | c.569A>T (p.Glu190Val) c.749A>T (p.Glu250Val) n.734A>T n.312A>T | |
7 | g.83407161T>C | CA367930283 | SEMA3E | c.569A>G (p.Glu190Gly) c.749A>G (p.Glu250Gly) n.734A>G n.312A>G | |
7 | g.83407161T>G | CA367930284 | SEMA3E | c.569A>C (p.Glu190Ala) c.749A>C (p.Glu250Ala) n.734A>C n.312A>C | |
7 | g.83407162C>A | CA367930286 | SEMA3E | c.568G>T (p.Glu190Ter) c.748G>T (p.Glu250Ter) n.733G>T n.311G>T | |
7 | g.83407162C= | CA1721679518 | SEMA3E | c.568G= (p.Glu190=) c.748G= (p.Glu250=) n.733G= n.311G= | |
7 | g.83407162C>G | CA367930287 | SEMA3E | c.568G>C (p.Glu190Gln) c.748G>C (p.Glu250Gln) n.733G>C n.311G>C | |
7 | g.83407162C>T | CA367930285 | SEMA3E | c.568G>A (p.Glu190Lys) c.748G>A (p.Glu250Lys) n.733G>A n.311G>A | dbSNP gnomAD v4 |
7 | g.83407163A= | CA1721679519 | SEMA3E | c.567T= (p.Thr189=) c.747T= (p.Thr249=) n.732T= n.310T= | |
7 | g.83407163A>C | CA456135841 | SEMA3E | c.567T>G (p.Thr189=) c.747T>G (p.Thr249=) n.732T>G n.310T>G | |
7 | g.83407163A>G | CA456135843 | SEMA3E | c.567T>C (p.Thr189=) c.747T>C (p.Thr249=) n.732T>C n.310T>C | gnomAD v4 |
7 | g.83407163A>T | CA456135845 | SEMA3E | c.567T>A (p.Thr189=) c.747T>A (p.Thr249=) n.732T>A n.310T>A | dbSNP |
7 | g.83407164G>A | CA367930290 | SEMA3E | c.566C>T (p.Thr189Ile) c.746C>T (p.Thr249Ile) n.731C>T n.309C>T | |
7 | g.83407164G>C | CA367930288 | SEMA3E | c.566C>G (p.Thr189Ser) c.746C>G (p.Thr249Ser) n.731C>G n.309C>G | |
7 | g.83407164G>T | CA367930289 | SEMA3E | c.566C>A (p.Thr189Asn) c.746C>A (p.Thr249Asn) n.731C>A n.309C>A | |
7 | g.83407165T>A | CA367930291 | SEMA3E | c.565A>T (p.Thr189Ser) c.745A>T (p.Thr249Ser) n.730A>T n.308A>T | |
7 | g.83407165T>C | CA367930292 | SEMA3E | c.565A>G (p.Thr189Ala) c.745A>G (p.Thr249Ala) n.730A>G n.308A>G | |
7 | g.83407165T>G | CA367930293 | SEMA3E | c.565A>C (p.Thr189Pro) c.745A>C (p.Thr249Pro) n.730A>C n.308A>C | |
7 | g.83407166A= | CA1721679520 | SEMA3E | c.564T= (p.Phe188=) c.744T= (p.Phe248=) n.729T= n.307T= | |
7 | g.83407166A>C | CA367930294 | SEMA3E | c.564T>G (p.Phe188Leu) c.744T>G (p.Phe248Leu) n.729T>G n.307T>G | |
7 | g.83407166A>G | CA456135856 | SEMA3E | c.564T>C (p.Phe188=) c.744T>C (p.Phe248=) n.729T>C n.307T>C | gnomAD v4 |
7 | g.83407166A>T | CA4322226 | SEMA3E | c.564T>A (p.Phe188Leu) c.744T>A (p.Phe248Leu) n.729T>A n.307T>A | dbSNP ExAC gnomAD v2 |
7 | g.83407167A>C | CA367930295 | SEMA3E | c.563T>G (p.Phe188Cys) c.743T>G (p.Phe248Cys) n.728T>G n.306T>G | |
7 | g.83407167A>G | CA367930296 | SEMA3E | c.563T>C (p.Phe188Ser) c.743T>C (p.Phe248Ser) n.728T>C n.306T>C | |
7 | g.83407167A>T | CA367930297 | SEMA3E | c.563T>A (p.Phe188Tyr) c.743T>A (p.Phe248Tyr) n.728T>A n.306T>A | |
7 | g.83407168A>C | CA367930298 | SEMA3E | c.562T>G (p.Phe188Val) c.742T>G (p.Phe248Val) n.727T>G n.305T>G | |
7 | g.83407168A>G | CA367930299 | SEMA3E | c.562T>C (p.Phe188Leu) c.742T>C (p.Phe248Leu) n.727T>C n.305T>C | |
7 | g.83407168A>T | CA367930300 | SEMA3E | c.562T>A (p.Phe188Ile) c.742T>A (p.Phe248Ile) n.727T>A n.305T>A | |
7 | g.83407169A>C | CA367930302 | SEMA3E | c.561T>G (p.Phe187Leu) c.741T>G (p.Phe247Leu) n.726T>G n.304T>G | |
7 | g.83407169A>G | CA456135867 | SEMA3E | c.561T>C (p.Phe187=) c.741T>C (p.Phe247=) n.726T>C n.304T>C | |
7 | g.83407169A>T | CA367930301 | SEMA3E | c.561T>A (p.Phe187Leu) c.741T>A (p.Phe247Leu) n.726T>A n.304T>A | |
7 | g.83407170A>C | CA367930303 | SEMA3E | c.560T>G (p.Phe187Cys) c.740T>G (p.Phe247Cys) n.725T>G n.303T>G | |
7 | g.83407170A>G | CA367930304 | SEMA3E | c.560T>C (p.Phe187Ser) c.740T>C (p.Phe247Ser) n.725T>C n.303T>C | |
7 | g.83407170A>T | CA367930305 | SEMA3E | c.560T>A (p.Phe187Tyr) c.740T>A (p.Phe247Tyr) n.725T>A n.303T>A | |
7 | g.83407171A= | CA1721679521 | SEMA3E | c.559T= (p.Phe187=) c.739T= (p.Phe247=) n.724T= n.302T= | |
7 | g.83407171A>C | CA4322227 | SEMA3E | c.559T>G (p.Phe187Val) c.739T>G (p.Phe247Val) n.724T>G n.302T>G | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.83407171A>G | CA367930306 | SEMA3E | c.559T>C (p.Phe187Leu) c.739T>C (p.Phe247Leu) n.724T>C n.302T>C | |
7 | g.83407171A>T | CA367930307 | SEMA3E | c.559T>A (p.Phe187Ile) c.739T>A (p.Phe247Ile) n.724T>A n.302T>A | |
7 | g.83407172del | CA2683557410 | SEMA3E | c.558del (p.Phe188LeufsTer24) c.738del (p.Phe248LeufsTer24) n.723del n.301del | gnomAD v4 |
7 | g.83407172G>A | CA456135880 | SEMA3E | c.558C>T (p.Phe186=) c.738C>T (p.Phe246=) n.723C>T n.301C>T | gnomAD v4 |
7 | g.83407172G>C | CA367930308 | SEMA3E | c.558C>G (p.Phe186Leu) c.738C>G (p.Phe246Leu) n.723C>G n.301C>G | COSMIC |
7 | g.83407172G= | CA1721679522 | SEMA3E | c.558C= (p.Phe186=) c.738C= (p.Phe246=) n.723C= n.301C= | |
7 | g.83407172G>T | CA4322228 | SEMA3E | c.558C>A (p.Phe186Leu) c.738C>A (p.Phe246Leu) n.723C>A n.301C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407173A>C | CA367930309 | SEMA3E | c.557T>G (p.Phe186Cys) c.737T>G (p.Phe246Cys) n.722T>G n.300T>G | |
7 | g.83407173A>G | CA367930310 | SEMA3E | c.557T>C (p.Phe186Ser) c.737T>C (p.Phe246Ser) n.722T>C n.300T>C | |
7 | g.83407173A>T | CA367930311 | SEMA3E | c.557T>A (p.Phe186Tyr) c.737T>A (p.Phe246Tyr) n.722T>A n.300T>A | |
7 | g.83407174A= | CA1721679523 | SEMA3E | c.556T= (p.Phe186=) c.736T= (p.Phe246=) n.721T= n.299T= | |
7 | g.83407174A>C | CA367930312 | SEMA3E | c.556T>G (p.Phe186Val) c.736T>G (p.Phe246Val) n.721T>G n.299T>G | |
7 | g.83407174A>G | CA367930313 | SEMA3E | c.556T>C (p.Phe186Leu) c.736T>C (p.Phe246Leu) n.721T>C n.299T>C | |
7 | g.83407174A>T | CA367930314 | SEMA3E | c.556T>A (p.Phe186Ile) c.736T>A (p.Phe246Ile) n.721T>A n.299T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.83407175A= | CA1721679524 | SEMA3E | c.555T= (p.Tyr185=) c.735T= (p.Tyr245=) n.720T= n.298T= | |
7 | g.83407175A>C | CA367930315 | SEMA3E | c.555T>G (p.Tyr185Ter) c.735T>G (p.Tyr245Ter) n.720T>G n.298T>G | |
7 | g.83407175A>G | CA456135889 | SEMA3E | c.555T>C (p.Tyr185=) c.735T>C (p.Tyr245=) n.720T>C n.298T>C | dbSNP |
7 | g.83407175A>T | CA367930316 | SEMA3E | c.555T>A (p.Tyr185Ter) c.735T>A (p.Tyr245Ter) n.720T>A n.298T>A | |
7 | g.83407175_83407176insCCAAACACACCCAACACA | CA2776732712 | SEMA3E | c.555_556insGTGTTGGGTGTGTTTGGT (p.Tyr185_Phe186insValLeuGlyValPheGly) c.735_736insGTGTTGGGTGTGTTTGGT (p.Tyr245_Phe246insValLeuGlyValPheGly) n.720_721insGTGTTGGGTGTGTTTGGT n.298_299insGTGTTGGGTGTGTTTGGT | |
7 | g.83407176T>A | CA367930317 | SEMA3E | c.554A>T (p.Tyr185Phe) c.734A>T (p.Tyr245Phe) n.719A>T n.297A>T | |
7 | g.83407176T>C | CA367930318 | SEMA3E | c.554A>G (p.Tyr185Cys) c.734A>G (p.Tyr245Cys) n.719A>G n.297A>G | dbSNP |
7 | g.83407176T>G | CA367930319 | SEMA3E | c.554A>C (p.Tyr185Ser) c.734A>C (p.Tyr245Ser) n.719A>C n.297A>C | |
7 | g.83407176T= | CA1721679525 | SEMA3E | c.554A= (p.Tyr185=) c.734A= (p.Tyr245=) n.719A= n.297A= | |
7 | g.83407177A>C | CA367930320 | SEMA3E | c.553T>G (p.Tyr185Asp) c.733T>G (p.Tyr245Asp) n.718T>G n.296T>G | ClinVar dbSNP gnomAD v4 |
7 | g.83407177A>G | CA367930321 | SEMA3E | c.553T>C (p.Tyr185His) c.733T>C (p.Tyr245His) n.718T>C n.296T>C | |
7 | g.83407177A>T | CA367930322 | SEMA3E | c.553T>A (p.Tyr185Asn) c.733T>A (p.Tyr245Asn) n.718T>A n.296T>A | |
7 | g.83407178T>A | CA456135900 | SEMA3E | c.552A>T (p.Val184=) c.732A>T (p.Val244=) n.717A>T n.295A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407178T>C | CA4322229 | SEMA3E | c.552A>G (p.Val184=) c.732A>G (p.Val244=) n.717A>G n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407178T>G | CA456135901 | SEMA3E | c.552A>C (p.Val184=) c.732A>C (p.Val244=) n.717A>C n.295A>C | |
7 | g.83407178T= | CA1721679526 | SEMA3E | c.552A= (p.Val184=) c.732A= (p.Val244=) n.717A= n.295A= | |
7 | g.83407179A>C | CA367930325 | SEMA3E | c.551T>G (p.Val184Gly) c.731T>G (p.Val244Gly) n.716T>G n.294T>G | |
7 | g.83407179A>G | CA367930323 | SEMA3E | c.551T>C (p.Val184Ala) c.731T>C (p.Val244Ala) n.716T>C n.294T>C | |
7 | g.83407179A>T | CA367930324 | SEMA3E | c.551T>A (p.Val184Glu) c.731T>A (p.Val244Glu) n.716T>A n.294T>A | |
7 | g.83407180C>A | CA367930326 | SEMA3E | c.550G>T (p.Val184Leu) c.730G>T (p.Val244Leu) n.715G>T n.293G>T | |
7 | g.83407180C>G | CA367930327 | SEMA3E | c.550G>C (p.Val184Leu) c.730G>C (p.Val244Leu) n.715G>C n.293G>C | |
7 | g.83407180C>T | CA367930328 | SEMA3E | c.550G>A (p.Val184Ile) c.730G>A (p.Val244Ile) n.715G>A n.293G>A | COSMIC |
7 | g.83407181T>A | CA367930329 | SEMA3E | c.549A>T (p.Lys183Asn) c.729A>T (p.Lys243Asn) n.714A>T n.292A>T | |
7 | g.83407181T>C | CA456135912 | SEMA3E | c.549A>G (p.Lys183=) c.729A>G (p.Lys243=) n.714A>G n.292A>G | |
7 | g.83407181T>G | CA367930330 | SEMA3E | c.549A>C (p.Lys183Asn) c.729A>C (p.Lys243Asn) n.714A>C n.292A>C | |
7 | g.83407182T>A | CA367930331 | SEMA3E | c.548A>T (p.Lys183Ile) c.728A>T (p.Lys243Ile) n.713A>T n.291A>T | gnomAD v4 |
7 | g.83407182T>C | CA367930333 | SEMA3E | c.548A>G (p.Lys183Arg) c.728A>G (p.Lys243Arg) n.713A>G n.291A>G | gnomAD v4 |
7 | g.83407182T>G | CA367930332 | SEMA3E | c.548A>C (p.Lys183Thr) c.728A>C (p.Lys243Thr) n.713A>C n.291A>C | gnomAD v4 |
7 | g.83407183T>A | CA367930334 | SEMA3E | c.547A>T (p.Lys183Ter) c.727A>T (p.Lys243Ter) n.712A>T n.290A>T | |
7 | g.83407183T>C | CA367930335 | SEMA3E | c.547A>G (p.Lys183Glu) c.727A>G (p.Lys243Glu) n.712A>G n.290A>G | |
7 | g.83407183T>G | CA367930336 | SEMA3E | c.547A>C (p.Lys183Gln) c.727A>C (p.Lys243Gln) n.712A>C n.290A>C | |
7 | g.83407183T= | CA1721679527 | SEMA3E | c.547A= (p.Lys183=) c.727A= (p.Lys243=) n.712A= n.290A= | |
7 | g.83407183_83407184insTAAATATTTTCTA | CA575817081 | SEMA3E | c.546_547insTAGAAAATATTTA (p.Lys183Ter) c.726_727insTAGAAAATATTTA (p.Lys243Ter) n.711_712insTAGAAAATATTTA n.289_290insTAGAAAATATTTA | dbSNP gnomAD v2 |
7 | g.83407184G>A | CA4322230 | SEMA3E | c.546C>T (p.Asn182=) c.726C>T (p.Asn242=) n.711C>T n.289C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.83407184G>C | CA367930337 | SEMA3E | c.546C>G (p.Asn182Lys) c.726C>G (p.Asn242Lys) n.711C>G n.289C>G | gnomAD v4 |
7 | g.83407184G= | CA1721679528 | SEMA3E | c.546C= (p.Asn182=) c.726C= (p.Asn242=) n.711C= n.289C= | |
7 | g.83407184G>T | CA367930338 | SEMA3E | c.546C>A (p.Asn182Lys) c.726C>A (p.Asn242Lys) n.711C>A n.289C>A | |
7 | g.83407185T>A | CA367930339 | SEMA3E | c.545A>T (p.Asn182Ile) c.725A>T (p.Asn242Ile) n.710A>T n.288A>T | |
7 | g.83407185T>C | CA367930340 | SEMA3E | c.545A>G (p.Asn182Ser) c.725A>G (p.Asn242Ser) n.710A>G n.288A>G | |
7 | g.83407185T>G | CA367930341 | SEMA3E | c.545A>C (p.Asn182Thr) c.725A>C (p.Asn242Thr) n.710A>C n.288A>C | |
7 | g.83407186T>A | CA367930342 | SEMA3E | c.544A>T (p.Asn182Tyr) c.724A>T (p.Asn242Tyr) n.709A>T n.287A>T | |
7 | g.83407186T>C | CA367930343 | SEMA3E | c.544A>G (p.Asn182Asp) c.724A>G (p.Asn242Asp) n.709A>G n.287A>G | |
7 | g.83407186T>G | CA367930344 | SEMA3E | c.544A>C (p.Asn182His) c.724A>C (p.Asn242His) n.709A>C n.287A>C | |
7 | g.83407187G>A | CA456135932 | SEMA3E | c.543C>T (p.Asp181=) c.723C>T (p.Asp241=) n.708C>T n.286C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407187G>C | CA367930345 | SEMA3E | c.543C>G (p.Asp181Glu) c.723C>G (p.Asp241Glu) n.708C>G n.286C>G | |
7 | g.83407187G= | CA1721679529 | SEMA3E | c.543C= (p.Asp181=) c.723C= (p.Asp241=) n.708C= n.286C= | |
7 | g.83407187G>T | CA367930346 | SEMA3E | c.543C>A (p.Asp181Glu) c.723C>A (p.Asp241Glu) n.708C>A n.286C>A | dbSNP |
7 | g.83407188T>A | CA367930347 | SEMA3E | c.542A>T (p.Asp181Val) c.722A>T (p.Asp241Val) n.707A>T n.285A>T | |
7 | g.83407188T>C | CA367930349 | SEMA3E | c.542A>G (p.Asp181Gly) c.722A>G (p.Asp241Gly) n.707A>G n.285A>G | |
7 | g.83407188T>G | CA367930348 | SEMA3E | c.542A>C (p.Asp181Ala) c.722A>C (p.Asp241Ala) n.707A>C n.285A>C | |
7 | g.83407189C>A | CA367930350 | SEMA3E | c.541G>T (p.Asp181Tyr) c.721G>T (p.Asp241Tyr) n.706G>T n.284G>T | |
7 | g.83407189C>G | CA367930352 | SEMA3E | c.541G>C (p.Asp181His) c.721G>C (p.Asp241His) n.706G>C n.284G>C | |
7 | g.83407189C>T | CA367930351 | SEMA3E | c.541G>A (p.Asp181Asn) c.721G>A (p.Asp241Asn) n.706G>A n.284G>A | |
7 | g.83407190A>C | CA367930353 | SEMA3E | c.540T>G (p.Asp180Glu) c.720T>G (p.Asp240Glu) n.705T>G n.283T>G | ClinVar |
7 | g.83407190A>G | CA456135942 | SEMA3E | c.540T>C (p.Asp180=) c.720T>C (p.Asp240=) n.705T>C n.283T>C | gnomAD v4 |
7 | g.83407190A>T | CA367930354 | SEMA3E | c.540T>A (p.Asp180Glu) c.720T>A (p.Asp240Glu) n.705T>A n.283T>A | |
7 | g.83407191T>A | CA367930355 | SEMA3E | c.539A>T (p.Asp180Val) c.719A>T (p.Asp240Val) n.704A>T n.282A>T | |
7 | g.83407191T>C | CA367930356 | SEMA3E | c.539A>G (p.Asp180Gly) c.719A>G (p.Asp240Gly) n.704A>G n.282A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.83407191T>G | CA367930357 | SEMA3E | c.539A>C (p.Asp180Ala) c.719A>C (p.Asp240Ala) n.704A>C n.282A>C | |
7 | g.83407191T= | CA1721679530 | SEMA3E | c.539A= (p.Asp180=) c.719A= (p.Asp240=) n.704A= n.282A= |