Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.83407101_83407103delinsCAGCA1721679492SEMA3Ec.627_629delinsCTG (p.Leu209=)
c.807_809delinsCTG (p.Leu269=)
n.792_794delinsCTG
7g.83407102A>CCA367930162SEMA3Ec.628T>G (p.Cys210Gly)
c.808T>G (p.Cys270Gly)
n.793T>G
7g.83407102A>GCA367930163SEMA3Ec.628T>C (p.Cys210Arg)
c.808T>C (p.Cys270Arg)
n.793T>C
7g.83407102A>TCA367930164SEMA3Ec.628T>A (p.Cys210Ser)
c.808T>A (p.Cys270Ser)
n.793T>A
7g.83407104_83407105delCA4322209SEMA3Ec.627_628del (p.Val211GlufsTer2)
c.807_808del (p.Val271GlufsTer2)
n.792_793del
 dbSNP ExAC gnomAD v4
7g.83407103G>ACA4322210SEMA3Ec.627C>T (p.Leu209=)
c.807C>T (p.Leu269=)
n.792C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407103G>CCA456135630SEMA3Ec.627C>G (p.Leu209=)
c.807C>G (p.Leu269=)
n.792C>G
7g.83407103G=CA1721679494SEMA3Ec.627C= (p.Leu209=)
c.807C= (p.Leu269=)
n.792C=
7g.83407103G>TCA456135632SEMA3Ec.627C>A (p.Leu209=)
c.807C>A (p.Leu269=)
n.792C>A
7g.83407104A=CA1721679495SEMA3Ec.626T= (p.Leu209=)
c.806T= (p.Leu269=)
n.791T=
7g.83407104A>CCA161171149SEMA3Ec.626T>G (p.Leu209Arg)
c.806T>G (p.Leu269Arg)
n.791T>G
 dbSNP
7g.83407104A>GCA4322211SEMA3Ec.626T>C (p.Leu209Pro)
c.806T>C (p.Leu269Pro)
n.791T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407104A>TCA367930165SEMA3Ec.626T>A (p.Leu209His)
c.806T>A (p.Leu269His)
n.791T>A
7g.83407105G>ACA367930166SEMA3Ec.625C>T (p.Leu209Phe)
c.805C>T (p.Leu269Phe)
n.790C>T
7g.83407105G>CCA367930167SEMA3Ec.625C>G (p.Leu209Val)
c.805C>G (p.Leu269Val)
n.790C>G
7g.83407105G>TCA367930168SEMA3Ec.625C>A (p.Leu209Ile)
c.805C>A (p.Leu269Ile)
n.790C>A
7g.83407106T>ACA456135640SEMA3Ec.624A>T (p.Arg208=)
c.804A>T (p.Arg268=)
n.789A>T
7g.83407106T>CCA456135641SEMA3Ec.624A>G (p.Arg208=)
c.804A>G (p.Arg268=)
n.789A>G
7g.83407106T>GCA456135642SEMA3Ec.624A>C (p.Arg208=)
c.804A>C (p.Arg268=)
n.789A>C
7g.83407107C>ACA367930169SEMA3Ec.623G>T (p.Arg208Leu)
c.803G>T (p.Arg268Leu)
n.788G>T
7g.83407107C=CA1721679496SEMA3Ec.623G= (p.Arg208=)
c.803G= (p.Arg268=)
n.788G=
7g.83407107C>GCA367930170SEMA3Ec.623G>C (p.Arg208Pro)
c.803G>C (p.Arg268Pro)
n.788G>C
7g.83407107C>TCA4322212SEMA3Ec.623G>A (p.Arg208Gln)
c.803G>A (p.Arg268Gln)
n.788G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.83407108G>ACA367930171SEMA3Ec.622C>T (p.Arg208Ter)
c.802C>T (p.Arg268Ter)
n.787C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.83407108G>CCA367930172SEMA3Ec.622C>G (p.Arg208Gly)
c.802C>G (p.Arg268Gly)
n.787C>G
7g.83407108G=CA1721679497SEMA3Ec.622C= (p.Arg208=)
c.802C= (p.Arg268=)
n.787C=
7g.83407108G>TCA4322213SEMA3Ec.622C>A (p.Arg208=)
c.802C>A (p.Arg268=)
n.787C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407109C>ACA456135649SEMA3Ec.621G>T (p.Gly207=)
c.801G>T (p.Gly267=)
n.786G>T
7g.83407109C=CA1721679498SEMA3Ec.621G= (p.Gly207=)
c.801G= (p.Gly267=)
n.786G=
7g.83407109C>GCA456135650SEMA3Ec.621G>C (p.Gly207=)
c.801G>C (p.Gly267=)
n.786G>C
7g.83407109C>TCA456135651SEMA3Ec.621G>A (p.Gly207=)
c.801G>A (p.Gly267=)
n.786G>A
 dbSNP gnomAD v2 gnomAD v4
7g.83407110C>ACA367930173SEMA3Ec.620G>T (p.Gly207Val)
c.800G>T (p.Gly267Val)
n.785G>T
7g.83407110C>GCA367930174SEMA3Ec.620G>C (p.Gly207Ala)
c.800G>C (p.Gly267Ala)
n.785G>C
7g.83407110C>TCA367930175SEMA3Ec.620G>A (p.Gly207Glu)
c.800G>A (p.Gly267Glu)
n.785G>A
7g.83407111C>ACA367930176SEMA3Ec.619G>T (p.Gly207Trp)
c.799G>T (p.Gly267Trp)
n.784G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.83407111C=CA1721679499SEMA3Ec.619G= (p.Gly207=)
c.799G= (p.Gly267=)
n.784G=
7g.83407111C>GCA367930177SEMA3Ec.619G>C (p.Gly207Arg)
c.799G>C (p.Gly267Arg)
n.784G>C
7g.83407111C>TCA4322214SEMA3Ec.619G>A (p.Gly207Arg)
c.799G>A (p.Gly267Arg)
n.784G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407112G>ACA456135657SEMA3Ec.618C>T (p.Val206=)
c.798C>T (p.Val266=)
n.783C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.83407112G>CCA456135658SEMA3Ec.618C>G (p.Val206=)
c.798C>G (p.Val266=)
n.783C>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407112G=CA1721679500SEMA3Ec.618C= (p.Val206=)
c.798C= (p.Val266=)
n.783C=
7g.83407112G>TCA456135660SEMA3Ec.618C>A (p.Val206=)
c.798C>A (p.Val266=)
n.783C>A
7g.83407113A>CCA367930180SEMA3Ec.617T>G (p.Val206Gly)
c.797T>G (p.Val266Gly)
n.782T>G
7g.83407113A>GCA367930178SEMA3Ec.617T>C (p.Val206Ala)
c.797T>C (p.Val266Ala)
n.782T>C
7g.83407113A>TCA367930179SEMA3Ec.617T>A (p.Val206Asp)
c.797T>A (p.Val266Asp)
n.782T>A
7g.83407114C>ACA367930181SEMA3Ec.616G>T (p.Val206Phe)
c.796G>T (p.Val266Phe)
n.781G>T
7g.83407114C=CA1721679501SEMA3Ec.616G= (p.Val206=)
c.796G= (p.Val266=)
n.781G=
7g.83407114C>GCA367930182SEMA3Ec.616G>C (p.Val206Leu)
c.796G>C (p.Val266Leu)
n.781G>C
7g.83407114C>TCA4322215SEMA3Ec.616G>A (p.Val206Ile)
c.796G>A (p.Val266Ile)
n.781G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407115C>ACA367930183SEMA3Ec.615G>T (p.Arg205Ser)
c.795G>T (p.Arg265Ser)
n.780G>T
 ClinVar dbSNP
7g.83407115C>GCA367930184SEMA3Ec.615G>C (p.Arg205Ser)
c.795G>C (p.Arg265Ser)
n.780G>C
7g.83407115C>TCA456135668SEMA3Ec.615G>A (p.Arg205=)
c.795G>A (p.Arg265=)
n.780G>A
7g.83407116C>ACA367930187SEMA3Ec.614G>T (p.Arg205Met)
c.794G>T (p.Arg265Met)
n.779G>T
7g.83407116C>GCA367930185SEMA3Ec.614G>C (p.Arg205Thr)
c.794G>C (p.Arg265Thr)
n.779G>C
7g.83407116C>TCA367930186SEMA3Ec.614G>A (p.Arg205Lys)
c.794G>A (p.Arg265Lys)
n.779G>A
7g.83407117T>ACA367930188SEMA3Ec.613A>T (p.Arg205Trp)
c.793A>T (p.Arg265Trp)
n.778A>T
7g.83407117T>CCA367930189SEMA3Ec.613A>G (p.Arg205Gly)
c.793A>G (p.Arg265Gly)
n.778A>G
 ClinVar dbSNP
7g.83407117T>GCA456135676SEMA3Ec.613A>C (p.Arg205=)
c.793A>C (p.Arg265=)
n.778A>C
7g.83407118G>ACA456135678SEMA3Ec.612C>T (p.Thr204=)
c.792C>T (p.Thr264=)
n.777C>T
 gnomAD v4
7g.83407118G>CCA456135680SEMA3Ec.612C>G (p.Thr204=)
c.792C>G (p.Thr264=)
n.777C>G
7g.83407118G=CA1721679502SEMA3Ec.612C= (p.Thr204=)
c.792C= (p.Thr264=)
n.777C=
7g.83407118G>TCA456135681SEMA3Ec.612C>A (p.Thr204=)
c.792C>A (p.Thr264=)
n.777C>A
 dbSNP gnomAD v3 gnomAD v4
7g.83407119G>ACA367930190SEMA3Ec.611C>T (p.Thr204Ile)
c.791C>T (p.Thr264Ile)
n.776C>T
7g.83407119G>CCA4322216SEMA3Ec.611C>G (p.Thr204Ser)
c.791C>G (p.Thr264Ser)
n.776C>G
 dbSNP ExAC gnomAD v4
7g.83407119G=CA1721679503SEMA3Ec.611C= (p.Thr204=)
c.791C= (p.Thr264=)
n.776C=
7g.83407119G>TCA367930191SEMA3Ec.611C>A (p.Thr204Asn)
c.791C>A (p.Thr264Asn)
n.776C>A
7g.83407120T>ACA367930192SEMA3Ec.610A>T (p.Thr204Ser)
c.790A>T (p.Thr264Ser)
n.775A>T
7g.83407120T>CCA367930193SEMA3Ec.610A>G (p.Thr204Ala)
c.790A>G (p.Thr264Ala)
n.775A>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407120T>GCA367930194SEMA3Ec.610A>C (p.Thr204Pro)
c.790A>C (p.Thr264Pro)
n.775A>C
 dbSNP gnomAD v2 gnomAD v4
7g.83407120T=CA1721679504SEMA3Ec.610A= (p.Thr204=)
c.790A= (p.Thr264=)
n.775A=
7g.83407121G>ACA456135691SEMA3Ec.609C>T (p.Tyr203=)
c.789C>T (p.Tyr263=)
n.774C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.83407121G>CCA367930195SEMA3Ec.609C>G (p.Tyr203Ter)
c.789C>G (p.Tyr263Ter)
n.774C>G
7g.83407121G=CA1721679505SEMA3Ec.609C= (p.Tyr203=)
c.789C= (p.Tyr263=)
n.774C=
7g.83407121G>TCA367930196SEMA3Ec.609C>A (p.Tyr203Ter)
c.789C>A (p.Tyr263Ter)
n.774C>A
7g.83407122T>ACA367930197SEMA3Ec.608A>T (p.Tyr203Phe)
c.788A>T (p.Tyr263Phe)
n.773A>T
7g.83407122T>CCA367930198SEMA3Ec.608A>G (p.Tyr203Cys)
c.788A>G (p.Tyr263Cys)
n.773A>G
7g.83407122T>GCA367930199SEMA3Ec.608A>C (p.Tyr203Ser)
c.788A>C (p.Tyr263Ser)
n.773A>C
7g.83407123A>CCA367930200SEMA3Ec.607T>G (p.Tyr203Asp)
c.787T>G (p.Tyr263Asp)
n.772T>G
7g.83407123A>GCA367930202SEMA3Ec.607T>C (p.Tyr203His)
c.787T>C (p.Tyr263His)
n.772T>C
7g.83407123A>TCA367930201SEMA3Ec.607T>A (p.Tyr203Asn)
c.787T>A (p.Tyr263Asn)
n.772T>A
7g.83407125delCA2683557409SEMA3Ec.607del (p.Tyr203ThrfsTer9)
c.787del (p.Tyr263ThrfsTer9)
n.772del
 gnomAD v4
7g.83407124A>CCA367930203SEMA3Ec.606T>G (p.Ile202Met)
c.786T>G (p.Ile262Met)
n.771T>G
 gnomAD v4
7g.83407124A>GCA456135700SEMA3Ec.606T>C (p.Ile202=)
c.786T>C (p.Ile262=)
n.771T>C
7g.83407124A>TCA456135698SEMA3Ec.606T>A (p.Ile202=)
c.786T>A (p.Ile262=)
n.771T>A
7g.83407125A>CCA367930204SEMA3Ec.605T>G (p.Ile202Ser)
c.785T>G (p.Ile262Ser)
n.770T>G
7g.83407125A>GCA367930205SEMA3Ec.605T>C (p.Ile202Thr)
c.785T>C (p.Ile262Thr)
n.770T>C
7g.83407125A>TCA367930206SEMA3Ec.605T>A (p.Ile202Asn)
c.785T>A (p.Ile262Asn)
n.770T>A
7g.83407126T>ACA367930207SEMA3Ec.604A>T (p.Ile202Phe)
c.784A>T (p.Ile262Phe)
n.769A>T
 gnomAD v4
7g.83407126T>CCA367930208SEMA3Ec.604A>G (p.Ile202Val)
c.784A>G (p.Ile262Val)
n.769A>G
7g.83407126T>GCA367930209SEMA3Ec.604A>C (p.Ile202Leu)
c.784A>C (p.Ile262Leu)
n.769A>C
7g.83407127T>ACA456135709SEMA3Ec.603A>T (p.Ala201=)
c.783A>T (p.Ala261=)
n.768A>T
7g.83407127T>CCA456135711SEMA3Ec.603A>G (p.Ala201=)
c.783A>G (p.Ala261=)
n.768A>G
7g.83407127T>GCA456135713SEMA3Ec.603A>C (p.Ala201=)
c.783A>C (p.Ala261=)
n.768A>C
7g.83407128G>ACA367930210SEMA3Ec.602C>T (p.Ala201Val)
c.782C>T (p.Ala261Val)
n.767C>T
7g.83407128G>CCA367930211SEMA3Ec.602C>G (p.Ala201Gly)
c.782C>G (p.Ala261Gly)
n.767C>G
 gnomAD v4
7g.83407128G>TCA367930212SEMA3Ec.602C>A (p.Ala201Glu)
c.782C>A (p.Ala261Glu)
n.767C>A
7g.83407129C>ACA367930213SEMA3Ec.601G>T (p.Ala201Ser)
c.781G>T (p.Ala261Ser)
n.766G>T
 dbSNP gnomAD v2
7g.83407129C=CA1721679506SEMA3Ec.601G= (p.Ala201=)
c.781G= (p.Ala261=)
n.766G=
7g.83407129C>GCA4322217SEMA3Ec.601G>C (p.Ala201Pro)
c.781G>C (p.Ala261Pro)
n.766G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407129C>TCA4322218SEMA3Ec.601G>A (p.Ala201Thr)
c.781G>A (p.Ala261Thr)
n.766G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.83407130G>ACA4322219SEMA3Ec.600C>T (p.His200=)
c.780C>T (p.His260=)
n.765C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407130G>CCA367930214SEMA3Ec.600C>G (p.His200Gln)
c.780C>G (p.His260Gln)
n.765C>G
 dbSNP gnomAD v4
7g.83407130G=CA1721679507SEMA3Ec.600C= (p.His200=)
c.780C= (p.His260=)
n.765C=
7g.83407130G>TCA4322220SEMA3Ec.600C>A (p.His200Gln)
c.780C>A (p.His260Gln)
n.765C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407131T>ACA367930215SEMA3Ec.599A>T (p.His200Leu)
c.779A>T (p.His260Leu)
n.764A>T
7g.83407131T>CCA367930216SEMA3Ec.599A>G (p.His200Arg)
c.779A>G (p.His260Arg)
n.764A>G
7g.83407131T>GCA367930217SEMA3Ec.599A>C (p.His200Pro)
c.779A>C (p.His260Pro)
n.764A>C
7g.83407132G>ACA367930218SEMA3Ec.598C>T (p.His200Tyr)
c.778C>T (p.His260Tyr)
n.763C>T
7g.83407132G>CCA367930219SEMA3Ec.598C>G (p.His200Asp)
c.778C>G (p.His260Asp)
n.763C>G
 gnomAD v4
7g.83407132G>TCA367930220SEMA3Ec.598C>A (p.His200Asn)
c.778C>A (p.His260Asn)
n.763C>A
 gnomAD v4
7g.83407133A>CCA456135731SEMA3Ec.597T>G (p.Ala199=)
c.777T>G (p.Ala259=)
n.762T>G
7g.83407133A>GCA456135732SEMA3Ec.597T>C (p.Ala199=)
c.777T>C (p.Ala259=)
n.762T>C
7g.83407133A>TCA456135734SEMA3Ec.597T>A (p.Ala199=)
c.777T>A (p.Ala259=)
n.762T>A
7g.83407134G>ACA367930221SEMA3Ec.596C>T (p.Ala199Val)
c.776C>T (p.Ala259Val)
n.761C>T
 gnomAD v4
7g.83407134G>CCA367930222SEMA3Ec.596C>G (p.Ala199Gly)
c.776C>G (p.Ala259Gly)
n.761C>G
7g.83407134G>TCA367930223SEMA3Ec.596C>A (p.Ala199Asp)
c.776C>A (p.Ala259Asp)
n.761C>A
7g.83407135C>ACA367930224SEMA3Ec.595G>T (p.Ala199Ser)
c.775G>T (p.Ala259Ser)
n.760G>T
7g.83407135C>GCA367930225SEMA3Ec.595G>C (p.Ala199Pro)
c.775G>C (p.Ala259Pro)
n.760G>C
7g.83407135C>TCA367930226SEMA3Ec.595G>A (p.Ala199Thr)
c.775G>A (p.Ala259Thr)
n.760G>A
7g.83407136A=CA1721679508SEMA3Ec.594T= (p.Asn198=)
c.774T= (p.Asn258=)
n.759T=
7g.83407136A>CCA367930228SEMA3Ec.594T>G (p.Asn198Lys)
c.774T>G (p.Asn258Lys)
n.759T>G
7g.83407136A>GCA456135744SEMA3Ec.594T>C (p.Asn198=)
c.774T>C (p.Asn258=)
n.759T>C
 dbSNP gnomAD v2 gnomAD v4
7g.83407136A>TCA367930227SEMA3Ec.594T>A (p.Asn198Lys)
c.774T>A (p.Asn258Lys)
n.759T>A
7g.83407137T>ACA367930229SEMA3Ec.593A>T (p.Asn198Ile)
c.773A>T (p.Asn258Ile)
n.758A>T
7g.83407137T>CCA367930231SEMA3Ec.593A>G (p.Asn198Ser)
c.773A>G (p.Asn258Ser)
n.758A>G
7g.83407137T>GCA367930230SEMA3Ec.593A>C (p.Asn198Thr)
c.773A>C (p.Asn258Thr)
n.758A>C
7g.83407138T>ACA367930232SEMA3Ec.592A>T (p.Asn198Tyr)
c.772A>T (p.Asn258Tyr)
n.757A>T
7g.83407138T>CCA367930234SEMA3Ec.592A>G (p.Asn198Asp)
c.772A>G (p.Asn258Asp)
n.757A>G
7g.83407138T>GCA367930233SEMA3Ec.592A>C (p.Asn198His)
c.772A>C (p.Asn258His)
n.757A>C
7g.83407139G>ACA456135753SEMA3Ec.591C>T (p.Asn197=)
c.771C>T (p.Asn257=)
n.756C>T
7g.83407139G>CCA367930235SEMA3Ec.591C>G (p.Asn197Lys)
c.771C>G (p.Asn257Lys)
n.756C>G
7g.83407139G>TCA367930236SEMA3Ec.591C>A (p.Asn197Lys)
c.771C>A (p.Asn257Lys)
n.756C>A
7g.83407140T>ACA367930237SEMA3Ec.590A>T (p.Asn197Ile)
c.770A>T (p.Asn257Ile)
n.755A>T
n.333A>T
7g.83407140T>CCA367930238SEMA3Ec.590A>G (p.Asn197Ser)
c.770A>G (p.Asn257Ser)
n.755A>G
n.333A>G
7g.83407140T>GCA367930239SEMA3Ec.590A>C (p.Asn197Thr)
c.770A>C (p.Asn257Thr)
n.755A>C
n.333A>C
7g.83407141T>ACA367930240SEMA3Ec.589A>T (p.Asn197Tyr)
c.769A>T (p.Asn257Tyr)
n.754A>T
n.332A>T
7g.83407141T>CCA367930241SEMA3Ec.589A>G (p.Asn197Asp)
c.769A>G (p.Asn257Asp)
n.754A>G
n.332A>G
 gnomAD v4
7g.83407141T>GCA367930242SEMA3Ec.589A>C (p.Asn197His)
c.769A>C (p.Asn257His)
n.754A>C
n.332A>C
7g.83407142T>ACA367930243SEMA3Ec.588A>T (p.Glu196Asp)
c.768A>T (p.Glu256Asp)
n.753A>T
n.331A>T
7g.83407142T>CCA456135766SEMA3Ec.588A>G (p.Glu196=)
c.768A>G (p.Glu256=)
n.753A>G
n.331A>G
7g.83407142T>GCA367930244SEMA3Ec.588A>C (p.Glu196Asp)
c.768A>C (p.Glu256Asp)
n.753A>C
n.331A>C
7g.83407143T>ACA367930245SEMA3Ec.587A>T (p.Glu196Val)
c.767A>T (p.Glu256Val)
n.752A>T
n.330A>T
7g.83407143T>CCA367930246SEMA3Ec.587A>G (p.Glu196Gly)
c.767A>G (p.Glu256Gly)
n.752A>G
n.330A>G
7g.83407143T>GCA4322221SEMA3Ec.587A>C (p.Glu196Ala)
c.767A>C (p.Glu256Ala)
n.752A>C
n.330A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407143T=CA1721679509SEMA3Ec.587A= (p.Glu196=)
c.767A= (p.Glu256=)
n.752A=
n.330A=
7g.83407144C>ACA367930247SEMA3Ec.586G>T (p.Glu196Ter)
c.766G>T (p.Glu256Ter)
n.751G>T
n.329G>T
7g.83407144C>GCA367930249SEMA3Ec.586G>C (p.Glu196Gln)
c.766G>C (p.Glu256Gln)
n.751G>C
n.329G>C
7g.83407144C>TCA367930248SEMA3Ec.586G>A (p.Glu196Lys)
c.766G>A (p.Glu256Lys)
n.751G>A
n.329G>A
7g.83407145T>ACA456135777SEMA3Ec.585A>T (p.Ala195=)
c.765A>T (p.Ala255=)
n.750A>T
n.328A>T
7g.83407145T>CCA456135775SEMA3Ec.585A>G (p.Ala195=)
c.765A>G (p.Ala255=)
n.750A>G
n.328A>G
7g.83407145T>GCA4322222SEMA3Ec.585A>C (p.Ala195=)
c.765A>C (p.Ala255=)
n.750A>C
n.328A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407145T=CA1721679510SEMA3Ec.585A= (p.Ala195=)
c.765A= (p.Ala255=)
n.750A=
n.328A=
7g.83407150_83407158delCA2715075576SEMA3Ec.577_585del (p.Leu193_Ala195del)
c.757_765del (p.Leu253_Ala255del)
n.742_750del
n.320_328del
 dbSNP
7g.83407146G>ACA367930250SEMA3Ec.584C>T (p.Ala195Val)
c.764C>T (p.Ala255Val)
n.749C>T
n.327C>T
7g.83407146G>CCA367930251SEMA3Ec.584C>G (p.Ala195Gly)
c.764C>G (p.Ala255Gly)
n.749C>G
n.327C>G
7g.83407146G>TCA367930252SEMA3Ec.584C>A (p.Ala195Glu)
c.764C>A (p.Ala255Glu)
n.749C>A
n.327C>A
7g.83407147C>ACA367930253SEMA3Ec.583G>T (p.Ala195Ser)
c.763G>T (p.Ala255Ser)
n.748G>T
n.326G>T
7g.83407147C>GCA367930254SEMA3Ec.583G>C (p.Ala195Pro)
c.763G>C (p.Ala255Pro)
n.748G>C
n.326G>C
7g.83407147C>TCA367930255SEMA3Ec.583G>A (p.Ala195Thr)
c.763G>A (p.Ala255Thr)
n.748G>A
n.326G>A
7g.83407148C>ACA367930256SEMA3Ec.582G>T (p.Glu194Asp)
c.762G>T (p.Glu254Asp)
n.747G>T
n.325G>T
7g.83407148C>GCA367930257SEMA3Ec.582G>C (p.Glu194Asp)
c.762G>C (p.Glu254Asp)
n.747G>C
n.325G>C
 gnomAD v4
7g.83407148C>TCA456135786SEMA3Ec.582G>A (p.Glu194=)
c.762G>A (p.Glu254=)
n.747G>A
n.325G>A
7g.83407149T>ACA367930260SEMA3Ec.581A>T (p.Glu194Val)
c.761A>T (p.Glu254Val)
n.746A>T
n.324A>T
 COSMIC
7g.83407149T>CCA367930259SEMA3Ec.581A>G (p.Glu194Gly)
c.761A>G (p.Glu254Gly)
n.746A>G
n.324A>G
7g.83407149T>GCA367930258SEMA3Ec.581A>C (p.Glu194Ala)
c.761A>C (p.Glu254Ala)
n.746A>C
n.324A>C
7g.83407150C>ACA367930261SEMA3Ec.580G>T (p.Glu194Ter)
c.760G>T (p.Glu254Ter)
n.745G>T
n.323G>T
7g.83407150C=CA1721679511SEMA3Ec.580G= (p.Glu194=)
c.760G= (p.Glu254=)
n.745G=
n.323G=
7g.83407150C>GCA4322223SEMA3Ec.580G>C (p.Glu194Gln)
c.760G>C (p.Glu254Gln)
n.745G>C
n.323G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407150C>TCA367930262SEMA3Ec.580G>A (p.Glu194Lys)
c.760G>A (p.Glu254Lys)
n.745G>A
n.323G>A
 gnomAD v4
7g.83407151C>ACA456135794SEMA3Ec.579G>T (p.Leu193=)
c.759G>T (p.Leu253=)
n.744G>T
n.322G>T
7g.83407151C>GCA456135797SEMA3Ec.579G>C (p.Leu193=)
c.759G>C (p.Leu253=)
n.744G>C
n.322G>C
7g.83407151C>TCA456135795SEMA3Ec.579G>A (p.Leu193=)
c.759G>A (p.Leu253=)
n.744G>A
n.322G>A
7g.83407152A=CA1721679512SEMA3Ec.578T= (p.Leu193=)
c.758T= (p.Leu253=)
n.743T=
n.321T=
7g.83407152A>CCA367930263SEMA3Ec.578T>G (p.Leu193Arg)
c.758T>G (p.Leu253Arg)
n.743T>G
n.321T>G
7g.83407152A>GCA367930264SEMA3Ec.578T>C (p.Leu193Pro)
c.758T>C (p.Leu253Pro)
n.743T>C
n.321T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.83407152A>TCA367930265SEMA3Ec.578T>A (p.Leu193Gln)
c.758T>A (p.Leu253Gln)
n.743T>A
n.321T>A
 dbSNP
7g.83407153G>ACA456135803SEMA3Ec.577C>T (p.Leu193=)
c.757C>T (p.Leu253=)
n.742C>T
n.320C>T
7g.83407153G>CCA367930266SEMA3Ec.577C>G (p.Leu193Val)
c.757C>G (p.Leu253Val)
n.742C>G
n.320C>G
7g.83407153G=CA1721679513SEMA3Ec.577C= (p.Leu193=)
c.757C= (p.Leu253=)
n.742C=
n.320C=
7g.83407153G>TCA367930267SEMA3Ec.577C>A (p.Leu193Met)
c.757C>A (p.Leu253Met)
n.742C>A
n.320C>A
 dbSNP
7g.83407154T>ACA456135807SEMA3Ec.576A>T (p.Ala192=)
c.756A>T (p.Ala252=)
n.741A>T
n.319A>T
7g.83407154T>CCA456135808SEMA3Ec.576A>G (p.Ala192=)
c.756A>G (p.Ala252=)
n.741A>G
n.319A>G
7g.83407154T>GCA456135810SEMA3Ec.576A>C (p.Ala192=)
c.756A>C (p.Ala252=)
n.741A>C
n.319A>C
7g.83407155G>ACA4322224SEMA3Ec.575C>T (p.Ala192Val)
c.755C>T (p.Ala252Val)
n.740C>T
n.318C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407155G>CCA367930268SEMA3Ec.575C>G (p.Ala192Gly)
c.755C>G (p.Ala252Gly)
n.740C>G
n.318C>G
7g.83407155G=CA1721679514SEMA3Ec.575C= (p.Ala192=)
c.755C= (p.Ala252=)
n.740C=
n.318C=
7g.83407155G>TCA367930269SEMA3Ec.575C>A (p.Ala192Glu)
c.755C>A (p.Ala252Glu)
n.740C>A
n.318C>A
7g.83407156C>ACA4322225SEMA3Ec.574G>T (p.Ala192Ser)
c.754G>T (p.Ala252Ser)
n.739G>T
n.317G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407156C=CA1721679515SEMA3Ec.574G= (p.Ala192=)
c.754G= (p.Ala252=)
n.739G=
n.317G=
7g.83407156C>GCA367930271SEMA3Ec.574G>C (p.Ala192Pro)
c.754G>C (p.Ala252Pro)
n.739G>C
n.317G>C
7g.83407156C>TCA367930270SEMA3Ec.574G>A (p.Ala192Thr)
c.754G>A (p.Ala252Thr)
n.739G>A
n.317G>A
 dbSNP gnomAD v3 gnomAD v4
7g.83407157C>ACA367930272SEMA3Ec.573G>T (p.Lys191Asn)
c.753G>T (p.Lys251Asn)
n.738G>T
n.316G>T
7g.83407157C=CA1721679516SEMA3Ec.573G= (p.Lys191=)
c.753G= (p.Lys251=)
n.738G=
n.316G=
7g.83407157C>GCA367930273SEMA3Ec.573G>C (p.Lys191Asn)
c.753G>C (p.Lys251Asn)
n.738G>C
n.316G>C
7g.83407157C>TCA456135820SEMA3Ec.573G>A (p.Lys191=)
c.753G>A (p.Lys251=)
n.738G>A
n.316G>A
 dbSNP gnomAD v2
7g.83407158T>ACA367930274SEMA3Ec.572A>T (p.Lys191Met)
c.752A>T (p.Lys251Met)
n.737A>T
n.315A>T
7g.83407158T>CCA367930275SEMA3Ec.572A>G (p.Lys191Arg)
c.752A>G (p.Lys251Arg)
n.737A>G
n.315A>G
7g.83407158T>GCA367930276SEMA3Ec.572A>C (p.Lys191Thr)
c.752A>C (p.Lys251Thr)
n.737A>C
n.315A>C
7g.83407159T>ACA367930277SEMA3Ec.571A>T (p.Lys191Ter)
c.751A>T (p.Lys251Ter)
n.736A>T
n.314A>T
 dbSNP
7g.83407159T>CCA367930278SEMA3Ec.571A>G (p.Lys191Glu)
c.751A>G (p.Lys251Glu)
n.736A>G
n.314A>G
7g.83407159T>GCA367930279SEMA3Ec.571A>C (p.Lys191Gln)
c.751A>C (p.Lys251Gln)
n.736A>C
n.314A>C
7g.83407160C>ACA367930280SEMA3Ec.570G>T (p.Glu190Asp)
c.750G>T (p.Glu250Asp)
n.735G>T
n.313G>T
7g.83407160C=CA1721679517SEMA3Ec.570G= (p.Glu190=)
c.750G= (p.Glu250=)
n.735G=
n.313G=
7g.83407160C>GCA367930281SEMA3Ec.570G>C (p.Glu190Asp)
c.750G>C (p.Glu250Asp)
n.735G>C
n.313G>C
7g.83407160C>TCA456135832SEMA3Ec.570G>A (p.Glu190=)
c.750G>A (p.Glu250=)
n.735G>A
n.313G>A
 dbSNP
7g.83407161T>ACA367930282SEMA3Ec.569A>T (p.Glu190Val)
c.749A>T (p.Glu250Val)
n.734A>T
n.312A>T
7g.83407161T>CCA367930283SEMA3Ec.569A>G (p.Glu190Gly)
c.749A>G (p.Glu250Gly)
n.734A>G
n.312A>G
7g.83407161T>GCA367930284SEMA3Ec.569A>C (p.Glu190Ala)
c.749A>C (p.Glu250Ala)
n.734A>C
n.312A>C
7g.83407162C>ACA367930286SEMA3Ec.568G>T (p.Glu190Ter)
c.748G>T (p.Glu250Ter)
n.733G>T
n.311G>T
7g.83407162C=CA1721679518SEMA3Ec.568G= (p.Glu190=)
c.748G= (p.Glu250=)
n.733G=
n.311G=
7g.83407162C>GCA367930287SEMA3Ec.568G>C (p.Glu190Gln)
c.748G>C (p.Glu250Gln)
n.733G>C
n.311G>C
7g.83407162C>TCA367930285SEMA3Ec.568G>A (p.Glu190Lys)
c.748G>A (p.Glu250Lys)
n.733G>A
n.311G>A
 dbSNP gnomAD v4
7g.83407163A=CA1721679519SEMA3Ec.567T= (p.Thr189=)
c.747T= (p.Thr249=)
n.732T=
n.310T=
7g.83407163A>CCA456135841SEMA3Ec.567T>G (p.Thr189=)
c.747T>G (p.Thr249=)
n.732T>G
n.310T>G
7g.83407163A>GCA456135843SEMA3Ec.567T>C (p.Thr189=)
c.747T>C (p.Thr249=)
n.732T>C
n.310T>C
 gnomAD v4
7g.83407163A>TCA456135845SEMA3Ec.567T>A (p.Thr189=)
c.747T>A (p.Thr249=)
n.732T>A
n.310T>A
 dbSNP
7g.83407164G>ACA367930290SEMA3Ec.566C>T (p.Thr189Ile)
c.746C>T (p.Thr249Ile)
n.731C>T
n.309C>T
7g.83407164G>CCA367930288SEMA3Ec.566C>G (p.Thr189Ser)
c.746C>G (p.Thr249Ser)
n.731C>G
n.309C>G
7g.83407164G>TCA367930289SEMA3Ec.566C>A (p.Thr189Asn)
c.746C>A (p.Thr249Asn)
n.731C>A
n.309C>A
7g.83407165T>ACA367930291SEMA3Ec.565A>T (p.Thr189Ser)
c.745A>T (p.Thr249Ser)
n.730A>T
n.308A>T
7g.83407165T>CCA367930292SEMA3Ec.565A>G (p.Thr189Ala)
c.745A>G (p.Thr249Ala)
n.730A>G
n.308A>G
7g.83407165T>GCA367930293SEMA3Ec.565A>C (p.Thr189Pro)
c.745A>C (p.Thr249Pro)
n.730A>C
n.308A>C
7g.83407166A=CA1721679520SEMA3Ec.564T= (p.Phe188=)
c.744T= (p.Phe248=)
n.729T=
n.307T=
7g.83407166A>CCA367930294SEMA3Ec.564T>G (p.Phe188Leu)
c.744T>G (p.Phe248Leu)
n.729T>G
n.307T>G
7g.83407166A>GCA456135856SEMA3Ec.564T>C (p.Phe188=)
c.744T>C (p.Phe248=)
n.729T>C
n.307T>C
 gnomAD v4
7g.83407166A>TCA4322226SEMA3Ec.564T>A (p.Phe188Leu)
c.744T>A (p.Phe248Leu)
n.729T>A
n.307T>A
 dbSNP ExAC gnomAD v2
7g.83407167A>CCA367930295SEMA3Ec.563T>G (p.Phe188Cys)
c.743T>G (p.Phe248Cys)
n.728T>G
n.306T>G
7g.83407167A>GCA367930296SEMA3Ec.563T>C (p.Phe188Ser)
c.743T>C (p.Phe248Ser)
n.728T>C
n.306T>C
7g.83407167A>TCA367930297SEMA3Ec.563T>A (p.Phe188Tyr)
c.743T>A (p.Phe248Tyr)
n.728T>A
n.306T>A
7g.83407168A>CCA367930298SEMA3Ec.562T>G (p.Phe188Val)
c.742T>G (p.Phe248Val)
n.727T>G
n.305T>G
7g.83407168A>GCA367930299SEMA3Ec.562T>C (p.Phe188Leu)
c.742T>C (p.Phe248Leu)
n.727T>C
n.305T>C
7g.83407168A>TCA367930300SEMA3Ec.562T>A (p.Phe188Ile)
c.742T>A (p.Phe248Ile)
n.727T>A
n.305T>A
7g.83407169A>CCA367930302SEMA3Ec.561T>G (p.Phe187Leu)
c.741T>G (p.Phe247Leu)
n.726T>G
n.304T>G
7g.83407169A>GCA456135867SEMA3Ec.561T>C (p.Phe187=)
c.741T>C (p.Phe247=)
n.726T>C
n.304T>C
7g.83407169A>TCA367930301SEMA3Ec.561T>A (p.Phe187Leu)
c.741T>A (p.Phe247Leu)
n.726T>A
n.304T>A
7g.83407170A>CCA367930303SEMA3Ec.560T>G (p.Phe187Cys)
c.740T>G (p.Phe247Cys)
n.725T>G
n.303T>G
7g.83407170A>GCA367930304SEMA3Ec.560T>C (p.Phe187Ser)
c.740T>C (p.Phe247Ser)
n.725T>C
n.303T>C
7g.83407170A>TCA367930305SEMA3Ec.560T>A (p.Phe187Tyr)
c.740T>A (p.Phe247Tyr)
n.725T>A
n.303T>A
7g.83407171A=CA1721679521SEMA3Ec.559T= (p.Phe187=)
c.739T= (p.Phe247=)
n.724T=
n.302T=
7g.83407171A>CCA4322227SEMA3Ec.559T>G (p.Phe187Val)
c.739T>G (p.Phe247Val)
n.724T>G
n.302T>G
 ClinVar dbSNP ExAC gnomAD v2
7g.83407171A>GCA367930306SEMA3Ec.559T>C (p.Phe187Leu)
c.739T>C (p.Phe247Leu)
n.724T>C
n.302T>C
7g.83407171A>TCA367930307SEMA3Ec.559T>A (p.Phe187Ile)
c.739T>A (p.Phe247Ile)
n.724T>A
n.302T>A
7g.83407172delCA2683557410SEMA3Ec.558del (p.Phe188LeufsTer24)
c.738del (p.Phe248LeufsTer24)
n.723del
n.301del
 gnomAD v4
7g.83407172G>ACA456135880SEMA3Ec.558C>T (p.Phe186=)
c.738C>T (p.Phe246=)
n.723C>T
n.301C>T
 gnomAD v4
7g.83407172G>CCA367930308SEMA3Ec.558C>G (p.Phe186Leu)
c.738C>G (p.Phe246Leu)
n.723C>G
n.301C>G
 COSMIC
7g.83407172G=CA1721679522SEMA3Ec.558C= (p.Phe186=)
c.738C= (p.Phe246=)
n.723C=
n.301C=
7g.83407172G>TCA4322228SEMA3Ec.558C>A (p.Phe186Leu)
c.738C>A (p.Phe246Leu)
n.723C>A
n.301C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407173A>CCA367930309SEMA3Ec.557T>G (p.Phe186Cys)
c.737T>G (p.Phe246Cys)
n.722T>G
n.300T>G
7g.83407173A>GCA367930310SEMA3Ec.557T>C (p.Phe186Ser)
c.737T>C (p.Phe246Ser)
n.722T>C
n.300T>C
7g.83407173A>TCA367930311SEMA3Ec.557T>A (p.Phe186Tyr)
c.737T>A (p.Phe246Tyr)
n.722T>A
n.300T>A
7g.83407174A=CA1721679523SEMA3Ec.556T= (p.Phe186=)
c.736T= (p.Phe246=)
n.721T=
n.299T=
7g.83407174A>CCA367930312SEMA3Ec.556T>G (p.Phe186Val)
c.736T>G (p.Phe246Val)
n.721T>G
n.299T>G
7g.83407174A>GCA367930313SEMA3Ec.556T>C (p.Phe186Leu)
c.736T>C (p.Phe246Leu)
n.721T>C
n.299T>C
7g.83407174A>TCA367930314SEMA3Ec.556T>A (p.Phe186Ile)
c.736T>A (p.Phe246Ile)
n.721T>A
n.299T>A
 dbSNP gnomAD v3 gnomAD v4
7g.83407175A=CA1721679524SEMA3Ec.555T= (p.Tyr185=)
c.735T= (p.Tyr245=)
n.720T=
n.298T=
7g.83407175A>CCA367930315SEMA3Ec.555T>G (p.Tyr185Ter)
c.735T>G (p.Tyr245Ter)
n.720T>G
n.298T>G
7g.83407175A>GCA456135889SEMA3Ec.555T>C (p.Tyr185=)
c.735T>C (p.Tyr245=)
n.720T>C
n.298T>C
 dbSNP
7g.83407175A>TCA367930316SEMA3Ec.555T>A (p.Tyr185Ter)
c.735T>A (p.Tyr245Ter)
n.720T>A
n.298T>A
7g.83407175_83407176insCCAAACACACCCAACACACA2776732712SEMA3Ec.555_556insGTGTTGGGTGTGTTTGGT (p.Tyr185_Phe186insValLeuGlyValPheGly)
c.735_736insGTGTTGGGTGTGTTTGGT (p.Tyr245_Phe246insValLeuGlyValPheGly)
n.720_721insGTGTTGGGTGTGTTTGGT
n.298_299insGTGTTGGGTGTGTTTGGT
7g.83407176T>ACA367930317SEMA3Ec.554A>T (p.Tyr185Phe)
c.734A>T (p.Tyr245Phe)
n.719A>T
n.297A>T
7g.83407176T>CCA367930318SEMA3Ec.554A>G (p.Tyr185Cys)
c.734A>G (p.Tyr245Cys)
n.719A>G
n.297A>G
 dbSNP
7g.83407176T>GCA367930319SEMA3Ec.554A>C (p.Tyr185Ser)
c.734A>C (p.Tyr245Ser)
n.719A>C
n.297A>C
7g.83407176T=CA1721679525SEMA3Ec.554A= (p.Tyr185=)
c.734A= (p.Tyr245=)
n.719A=
n.297A=
7g.83407177A>CCA367930320SEMA3Ec.553T>G (p.Tyr185Asp)
c.733T>G (p.Tyr245Asp)
n.718T>G
n.296T>G
 ClinVar dbSNP gnomAD v4
7g.83407177A>GCA367930321SEMA3Ec.553T>C (p.Tyr185His)
c.733T>C (p.Tyr245His)
n.718T>C
n.296T>C
7g.83407177A>TCA367930322SEMA3Ec.553T>A (p.Tyr185Asn)
c.733T>A (p.Tyr245Asn)
n.718T>A
n.296T>A
7g.83407178T>ACA456135900SEMA3Ec.552A>T (p.Val184=)
c.732A>T (p.Val244=)
n.717A>T
n.295A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.83407178T>CCA4322229SEMA3Ec.552A>G (p.Val184=)
c.732A>G (p.Val244=)
n.717A>G
n.295A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407178T>GCA456135901SEMA3Ec.552A>C (p.Val184=)
c.732A>C (p.Val244=)
n.717A>C
n.295A>C
7g.83407178T=CA1721679526SEMA3Ec.552A= (p.Val184=)
c.732A= (p.Val244=)
n.717A=
n.295A=
7g.83407179A>CCA367930325SEMA3Ec.551T>G (p.Val184Gly)
c.731T>G (p.Val244Gly)
n.716T>G
n.294T>G
7g.83407179A>GCA367930323SEMA3Ec.551T>C (p.Val184Ala)
c.731T>C (p.Val244Ala)
n.716T>C
n.294T>C
7g.83407179A>TCA367930324SEMA3Ec.551T>A (p.Val184Glu)
c.731T>A (p.Val244Glu)
n.716T>A
n.294T>A
7g.83407180C>ACA367930326SEMA3Ec.550G>T (p.Val184Leu)
c.730G>T (p.Val244Leu)
n.715G>T
n.293G>T
7g.83407180C>GCA367930327SEMA3Ec.550G>C (p.Val184Leu)
c.730G>C (p.Val244Leu)
n.715G>C
n.293G>C
7g.83407180C>TCA367930328SEMA3Ec.550G>A (p.Val184Ile)
c.730G>A (p.Val244Ile)
n.715G>A
n.293G>A
 COSMIC
7g.83407181T>ACA367930329SEMA3Ec.549A>T (p.Lys183Asn)
c.729A>T (p.Lys243Asn)
n.714A>T
n.292A>T
7g.83407181T>CCA456135912SEMA3Ec.549A>G (p.Lys183=)
c.729A>G (p.Lys243=)
n.714A>G
n.292A>G
7g.83407181T>GCA367930330SEMA3Ec.549A>C (p.Lys183Asn)
c.729A>C (p.Lys243Asn)
n.714A>C
n.292A>C
7g.83407182T>ACA367930331SEMA3Ec.548A>T (p.Lys183Ile)
c.728A>T (p.Lys243Ile)
n.713A>T
n.291A>T
 gnomAD v4
7g.83407182T>CCA367930333SEMA3Ec.548A>G (p.Lys183Arg)
c.728A>G (p.Lys243Arg)
n.713A>G
n.291A>G
 gnomAD v4
7g.83407182T>GCA367930332SEMA3Ec.548A>C (p.Lys183Thr)
c.728A>C (p.Lys243Thr)
n.713A>C
n.291A>C
 gnomAD v4
7g.83407183T>ACA367930334SEMA3Ec.547A>T (p.Lys183Ter)
c.727A>T (p.Lys243Ter)
n.712A>T
n.290A>T
7g.83407183T>CCA367930335SEMA3Ec.547A>G (p.Lys183Glu)
c.727A>G (p.Lys243Glu)
n.712A>G
n.290A>G
7g.83407183T>GCA367930336SEMA3Ec.547A>C (p.Lys183Gln)
c.727A>C (p.Lys243Gln)
n.712A>C
n.290A>C
7g.83407183T=CA1721679527SEMA3Ec.547A= (p.Lys183=)
c.727A= (p.Lys243=)
n.712A=
n.290A=
7g.83407183_83407184insTAAATATTTTCTACA575817081SEMA3Ec.546_547insTAGAAAATATTTA (p.Lys183Ter)
c.726_727insTAGAAAATATTTA (p.Lys243Ter)
n.711_712insTAGAAAATATTTA
n.289_290insTAGAAAATATTTA
 dbSNP gnomAD v2
7g.83407184G>ACA4322230SEMA3Ec.546C>T (p.Asn182=)
c.726C>T (p.Asn242=)
n.711C>T
n.289C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407184G>CCA367930337SEMA3Ec.546C>G (p.Asn182Lys)
c.726C>G (p.Asn242Lys)
n.711C>G
n.289C>G
 gnomAD v4
7g.83407184G=CA1721679528SEMA3Ec.546C= (p.Asn182=)
c.726C= (p.Asn242=)
n.711C=
n.289C=
7g.83407184G>TCA367930338SEMA3Ec.546C>A (p.Asn182Lys)
c.726C>A (p.Asn242Lys)
n.711C>A
n.289C>A
7g.83407185T>ACA367930339SEMA3Ec.545A>T (p.Asn182Ile)
c.725A>T (p.Asn242Ile)
n.710A>T
n.288A>T
7g.83407185T>CCA367930340SEMA3Ec.545A>G (p.Asn182Ser)
c.725A>G (p.Asn242Ser)
n.710A>G
n.288A>G
7g.83407185T>GCA367930341SEMA3Ec.545A>C (p.Asn182Thr)
c.725A>C (p.Asn242Thr)
n.710A>C
n.288A>C
7g.83407186T>ACA367930342SEMA3Ec.544A>T (p.Asn182Tyr)
c.724A>T (p.Asn242Tyr)
n.709A>T
n.287A>T
7g.83407186T>CCA367930343SEMA3Ec.544A>G (p.Asn182Asp)
c.724A>G (p.Asn242Asp)
n.709A>G
n.287A>G
7g.83407186T>GCA367930344SEMA3Ec.544A>C (p.Asn182His)
c.724A>C (p.Asn242His)
n.709A>C
n.287A>C
7g.83407187G>ACA456135932SEMA3Ec.543C>T (p.Asp181=)
c.723C>T (p.Asp241=)
n.708C>T
n.286C>T
 dbSNP gnomAD v2 gnomAD v4
7g.83407187G>CCA367930345SEMA3Ec.543C>G (p.Asp181Glu)
c.723C>G (p.Asp241Glu)
n.708C>G
n.286C>G
7g.83407187G=CA1721679529SEMA3Ec.543C= (p.Asp181=)
c.723C= (p.Asp241=)
n.708C=
n.286C=
7g.83407187G>TCA367930346SEMA3Ec.543C>A (p.Asp181Glu)
c.723C>A (p.Asp241Glu)
n.708C>A
n.286C>A
 dbSNP
7g.83407188T>ACA367930347SEMA3Ec.542A>T (p.Asp181Val)
c.722A>T (p.Asp241Val)
n.707A>T
n.285A>T
7g.83407188T>CCA367930349SEMA3Ec.542A>G (p.Asp181Gly)
c.722A>G (p.Asp241Gly)
n.707A>G
n.285A>G
7g.83407188T>GCA367930348SEMA3Ec.542A>C (p.Asp181Ala)
c.722A>C (p.Asp241Ala)
n.707A>C
n.285A>C
7g.83407189C>ACA367930350SEMA3Ec.541G>T (p.Asp181Tyr)
c.721G>T (p.Asp241Tyr)
n.706G>T
n.284G>T
7g.83407189C>GCA367930352SEMA3Ec.541G>C (p.Asp181His)
c.721G>C (p.Asp241His)
n.706G>C
n.284G>C
7g.83407189C>TCA367930351SEMA3Ec.541G>A (p.Asp181Asn)
c.721G>A (p.Asp241Asn)
n.706G>A
n.284G>A
7g.83407190A>CCA367930353SEMA3Ec.540T>G (p.Asp180Glu)
c.720T>G (p.Asp240Glu)
n.705T>G
n.283T>G
 ClinVar
7g.83407190A>GCA456135942SEMA3Ec.540T>C (p.Asp180=)
c.720T>C (p.Asp240=)
n.705T>C
n.283T>C
 gnomAD v4
7g.83407190A>TCA367930354SEMA3Ec.540T>A (p.Asp180Glu)
c.720T>A (p.Asp240Glu)
n.705T>A
n.283T>A
7g.83407191T>ACA367930355SEMA3Ec.539A>T (p.Asp180Val)
c.719A>T (p.Asp240Val)
n.704A>T
n.282A>T
7g.83407191T>CCA367930356SEMA3Ec.539A>G (p.Asp180Gly)
c.719A>G (p.Asp240Gly)
n.704A>G
n.282A>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407191T>GCA367930357SEMA3Ec.539A>C (p.Asp180Ala)
c.719A>C (p.Asp240Ala)
n.704A>C
n.282A>C
7g.83407191T=CA1721679530SEMA3Ec.539A= (p.Asp180=)
c.719A= (p.Asp240=)
n.704A=
n.282A=
7g.83407192C>ACA4322231SEMA3Ec.538G>T (p.Asp180Tyr)
c.718G>T (p.Asp240Tyr)
n.703G>T
n.281G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.83407192C=CA1721679531SEMA3Ec.538G= (p.Asp180=)
c.718G= (p.Asp240=)
n.703G=
n.281G=
7g.83407192C>GCA367930358SEMA3Ec.538G>C (p.Asp180His)
c.718G>C (p.Asp240His)
n.703G>C
n.281G>C
7g.83407192C>TCA367930359SEMA3Ec.538G>A (p.Asp180Asn)
c.718G>A (p.Asp240Asn)
n.703G>A
n.281G>A
7g.83407193T>ACA367930360SEMA3Ec.537A>T (p.Arg179Ser)
c.717A>T (p.Arg239Ser)
n.702A>T
n.280A>T
7g.83407193T>CCA4322232SEMA3Ec.537A>G (p.Arg179=)
c.717A>G (p.Arg239=)
n.702A>G
n.280A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.83407193T>GCA367930361SEMA3Ec.537A>C (p.Arg179Ser)
c.717A>C (p.Arg239Ser)
n.702A>C
n.280A>C
7g.83407193T=CA1721679532SEMA3Ec.537A= (p.Arg179=)
c.717A= (p.Arg239=)
n.702A=
n.280A=
7g.83407194C>ACA367930362SEMA3Ec.536G>T (p.Arg179Ile)
c.716G>T (p.Arg239Ile)
n.701G>T
n.279G>T
7g.83407194C=CA1721679533SEMA3Ec.536G= (p.Arg179=)
c.716G= (p.Arg239=)
n.701G=
n.279G=
7g.83407194C>GCA367930363SEMA3Ec.536G>C (p.Arg179Thr)
c.716G>C (p.Arg239Thr)
n.701G>C
n.279G>C
 ClinVar dbSNP gnomAD v4
7g.83407194C>TCA367930364SEMA3Ec.536G>A (p.Arg179Lys)
c.716G>A (p.Arg239Lys)
n.701G>A
n.279G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.83407195T>ACA367930366SEMA3Ec.535A>T (p.Arg179Ter)
c.715A>T (p.Arg239Ter)
n.700A>T
n.278A>T
7g.83407195T>CCA367930365SEMA3Ec.535A>G (p.Arg179Gly)
c.715A>G (p.Arg239Gly)
n.700A>G
n.278A>G
 dbSNP gnomAD v3 gnomAD v4
7g.83407195T>GCA456135961SEMA3Ec.535A>C (p.Arg179=)
c.715A>C (p.Arg239=)
n.700A>C
n.278A>C
7g.83407195T=CA1721679534SEMA3Ec.535A= (p.Arg179=)
c.715A= (p.Arg239=)
n.700A=
n.278A=
7g.83407196G>ACA4322233SEMA3Ec.534C>T (p.Asp178=)
c.714C>T (p.Asp238=)
n.699C>T
n.277C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407196G>CCA367930367SEMA3Ec.534C>G (p.Asp178Glu)
c.714C>G (p.Asp238Glu)
n.699C>G
n.277C>G
7g.83407196G=CA1721679535SEMA3Ec.534C= (p.Asp178=)
c.714C= (p.Asp238=)
n.699C=
n.277C=
7g.83407196G>TCA367930368SEMA3Ec.534C>A (p.Asp178Glu)
c.714C>A (p.Asp238Glu)
n.699C>A
n.277C>A
7g.83407197T>ACA367930369SEMA3Ec.533A>T (p.Asp178Val)
c.713A>T (p.Asp238Val)
n.698A>T
n.276A>T
7g.83407197T>CCA367930370SEMA3Ec.533A>G (p.Asp178Gly)
c.713A>G (p.Asp238Gly)
n.698A>G
n.276A>G
 ClinVar dbSNP gnomAD v4
7g.83407197T>GCA367930371SEMA3Ec.533A>C (p.Asp178Ala)
c.713A>C (p.Asp238Ala)
n.698A>C
n.276A>C
7g.83407197T=CA1721679536SEMA3Ec.533A= (p.Asp178=)
c.713A= (p.Asp238=)
n.698A=
n.276A=
7g.83407198C>ACA367930372SEMA3Ec.532G>T (p.Asp178Tyr)
c.712G>T (p.Asp238Tyr)
n.697G>T
n.275G>T
 gnomAD v4
7g.83407198C>GCA367930373SEMA3Ec.532G>C (p.Asp178His)
c.712G>C (p.Asp238His)
n.697G>C
n.275G>C
7g.83407198C>TCA367930374SEMA3Ec.532G>A (p.Asp178Asn)
c.712G>A (p.Asp238Asn)
n.697G>A
n.275G>A
7g.83407199T>ACA367930375SEMA3Ec.531A>T (p.Glu177Asp)
c.711A>T (p.Glu237Asp)
n.696A>T
n.274A>T
7g.83407199T>CCA456135975SEMA3Ec.531A>G (p.Glu177=)
c.711A>G (p.Glu237=)
n.696A>G
n.274A>G
7g.83407199T>GCA367930376SEMA3Ec.531A>C (p.Glu177Asp)
c.711A>C (p.Glu237Asp)
n.696A>C
n.274A>C
7g.83407200T>ACA367930379SEMA3Ec.530A>T (p.Glu177Val)
c.710A>T (p.Glu237Val)
n.695A>T
n.273A>T
7g.83407200T>CCA367930378SEMA3Ec.530A>G (p.Glu177Gly)
c.710A>G (p.Glu237Gly)
n.695A>G
n.273A>G
7g.83407200T>GCA367930377SEMA3Ec.530A>C (p.Glu177Ala)
c.710A>C (p.Glu237Ala)
n.695A>C
n.273A>C
7g.83407201C>ACA367930380SEMA3Ec.529G>T (p.Glu177Ter)
c.709G>T (p.Glu237Ter)
n.694G>T
n.272G>T
7g.83407201C>GCA367930381SEMA3Ec.529G>C (p.Glu177Gln)
c.709G>C (p.Glu237Gln)
n.694G>C
n.272G>C
7g.83407201C>TCA367930382SEMA3Ec.529G>A (p.Glu177Lys)
c.709G>A (p.Glu237Lys)
n.694G>A
n.272G>A
 gnomAD v4
7g.83407202A=CA1721679537SEMA3Ec.528T= (p.Asn176=)
c.708T= (p.Asn236=)
n.693T=
n.271T=
7g.83407202A>CCA367930383SEMA3Ec.528T>G (p.Asn176Lys)
c.708T>G (p.Asn236Lys)
n.693T>G
n.271T>G
7g.83407202A>GCA456135983SEMA3Ec.528T>C (p.Asn176=)
c.708T>C (p.Asn236=)
n.693T>C
n.271T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.83407202A>TCA367930384SEMA3Ec.528T>A (p.Asn176Lys)
c.708T>A (p.Asn236Lys)
n.693T>A
n.271T>A

Number of alleles fetched