Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.83407053A=CA1721679474SEMA3Ec.633+44T= (n.633+44T=)
c.813+44T= (n.813+44T=)
n.798+44T=
7g.83407053A>GCA4322204SEMA3Ec.633+44T>C (n.633+44T>C)
c.813+44T>C (n.813+44T>C)
n.798+44T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407056A=CA1721679475SEMA3Ec.633+41T= (n.633+41T=)
c.813+41T= (n.813+41T=)
n.798+41T=
7g.83407056A>CCA575816825SEMA3Ec.633+41T>G (n.633+41T>G)
c.813+41T>G (n.813+41T>G)
n.798+41T>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407057A=CA1721679476SEMA3Ec.633+40T= (n.633+40T=)
c.813+40T= (n.813+40T=)
n.798+40T=
7g.83407057A>GCA1721679477SEMA3Ec.633+40T>C (n.633+40T>C)
c.813+40T>C (n.813+40T>C)
n.798+40T>C
 dbSNP gnomAD v4
7g.83407059T>CCA2683557395SEMA3Ec.633+38A>G (n.633+38A>G)
c.813+38A>G (n.813+38A>G)
n.798+38A>G
 gnomAD v4
7g.83407060G>CCA2683557396SEMA3Ec.633+37C>G (n.633+37C>G)
c.813+37C>G (n.813+37C>G)
n.798+37C>G
 gnomAD v4
7g.83407060G>TCA2683557397SEMA3Ec.633+37C>A (n.633+37C>A)
c.813+37C>A (n.813+37C>A)
n.798+37C>A
 gnomAD v4
7g.83407061T>GCA2578928269SEMA3Ec.633+36A>C (n.633+36A>C)
c.813+36A>C (n.813+36A>C)
n.798+36A>C
 gnomAD v4
7g.83407062G>ACA2683557399SEMA3Ec.633+35C>T (n.633+35C>T)
c.813+35C>T (n.813+35C>T)
n.798+35C>T
 gnomAD v4
7g.83407062G>TCA2683557398SEMA3Ec.633+35C>A (n.633+35C>A)
c.813+35C>A (n.813+35C>A)
n.798+35C>A
 gnomAD v4
7g.83407063A=CA1721679478SEMA3Ec.633+34T= (n.633+34T=)
c.813+34T= (n.813+34T=)
n.798+34T=
7g.83407063A>TCA843003532SEMA3Ec.633+34T>A (n.633+34T>A)
c.813+34T>A (n.813+34T>A)
n.798+34T>A
 dbSNP
7g.83407064dupCA2838937859SEMA3Ec.633+33dup (n.633+33dup)
c.813+33dup (n.813+33dup)
n.798+33dup
7g.83407066T>CCA2683557400SEMA3Ec.633+31A>G (n.633+31A>G)
c.813+31A>G (n.813+31A>G)
n.798+31A>G
 gnomAD v4
7g.83407068A>GCA2683557401SEMA3Ec.633+29T>C (n.633+29T>C)
c.813+29T>C (n.813+29T>C)
n.798+29T>C
 gnomAD v4
7g.83407068A>TCA2840228699SEMA3Ec.633+29T>A (n.633+29T>A)
c.813+29T>A (n.813+29T>A)
n.798+29T>A
7g.83407069G>ACA2578928270SEMA3Ec.633+28C>T (n.633+28C>T)
c.813+28C>T (n.813+28C>T)
n.798+28C>T
7g.83407070C>ACA4322205SEMA3Ec.633+27G>T (n.633+27G>T)
c.813+27G>T (n.813+27G>T)
n.798+27G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407070C=CA1721679479SEMA3Ec.633+27G= (n.633+27G=)
c.813+27G= (n.813+27G=)
n.798+27G=
7g.83407070C>GCA2683557402SEMA3Ec.633+27G>C (n.633+27G>C)
c.813+27G>C (n.813+27G>C)
n.798+27G>C
 gnomAD v4
7g.83407071A=CA1721679480SEMA3Ec.633+26T= (n.633+26T=)
c.813+26T= (n.813+26T=)
n.798+26T=
7g.83407072A>TCA2715075449SEMA3Ec.633+25T>A (n.633+25T>A)
c.813+25T>A (n.813+25T>A)
n.798+25T>A
 dbSNP
7g.83407074_83407082dupCA575816827SEMA3Ec.633+17_633+25dup (n.633+17_633+25dup)
c.813+17_813+25dup (n.813+17_813+25dup)
n.798+17_798+25dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.83407073G>TCA2683557403SEMA3Ec.633+24C>A (n.633+24C>A)
c.813+24C>A (n.813+24C>A)
n.798+24C>A
 gnomAD v4
7g.83407074_83407077delinsCATACA1721679481SEMA3Ec.633+20_633+23delinsTATG (n.633+20_633+23delinsTATG)
c.813+20_813+23delinsTATG (n.813+20_813+23delinsTATG)
n.798+20_798+23delinsTATG
7g.83407077_83407079delCA575816831SEMA3Ec.633+20_633+22del (n.633+20_633+22del)
c.813+20_813+22del (n.813+20_813+22del)
n.798+20_798+22del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.83407076T>CCA575816834SEMA3Ec.633+21A>G (n.633+21A>G)
c.813+21A>G (n.813+21A>G)
n.798+21A>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407076T=CA1721679482SEMA3Ec.633+21A= (n.633+21A=)
c.813+21A= (n.813+21A=)
n.798+21A=
7g.83407078A=CA1721679483SEMA3Ec.633+19T= (n.633+19T=)
c.813+19T= (n.813+19T=)
n.798+19T=
7g.83407078A>GCA4322206SEMA3Ec.633+19T>C (n.633+19T>C)
c.813+19T>C (n.813+19T>C)
n.798+19T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.83407079T>CCA575816837SEMA3Ec.633+18A>G (n.633+18A>G)
c.813+18A>G (n.813+18A>G)
n.798+18A>G
 dbSNP gnomAD v2 gnomAD v4
7g.83407079T=CA1721679484SEMA3Ec.633+18A= (n.633+18A=)
c.813+18A= (n.813+18A=)
n.798+18A=
7g.83407079_83407081delinsTGACA1721679485SEMA3Ec.633+16_633+18delinsTCA (n.633+16_633+18delinsTCA)
c.813+16_813+18delinsTCA (n.813+16_813+18delinsTCA)
n.798+16_798+18delinsTCA
7g.83407080G>ACA2683557404SEMA3Ec.633+17C>T (n.633+17C>T)
c.813+17C>T (n.813+17C>T)
n.798+17C>T
 gnomAD v4
7g.83407080G>TCA2683557405SEMA3Ec.633+17C>A (n.633+17C>A)
c.813+17C>A (n.813+17C>A)
n.798+17C>A
 gnomAD v4
7g.83407086_83407087delCA4322207SEMA3Ec.633+16_633+17del (n.633+16_633+17del)
c.813+16_813+17del (n.813+16_813+17del)
n.798+16_798+17del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.83407082G>ACA2683557406SEMA3Ec.633+15C>T (n.633+15C>T)
c.813+15C>T (n.813+15C>T)
n.798+15C>T
 gnomAD v4
7g.83407083A=CA1721679486SEMA3Ec.633+14T= (n.633+14T=)
c.813+14T= (n.813+14T=)
n.798+14T=
7g.83407083A>GCA1103853869SEMA3Ec.633+14T>C (n.633+14T>C)
c.813+14T>C (n.813+14T>C)
n.798+14T>C
 dbSNP gnomAD v3 gnomAD v4
7g.83407084G=CA1721679487SEMA3Ec.633+13C= (n.633+13C=)
c.813+13C= (n.813+13C=)
n.798+13C=
7g.83407084G>TCA575816842SEMA3Ec.633+13C>A (n.633+13C>A)
c.813+13C>A (n.813+13C>A)
n.798+13C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.83407086G>ACA161171122SEMA3Ec.633+11C>T (n.633+11C>T)
c.813+11C>T (n.813+11C>T)
n.798+11C>T
 dbSNP
7g.83407086G=CA1721679488SEMA3Ec.633+11C= (n.633+11C=)
c.813+11C= (n.813+11C=)
n.798+11C=
7g.83407087A=CA1721679490SEMA3Ec.633+10T= (n.633+10T=)
c.813+10T= (n.813+10T=)
n.798+10T=
7g.83407087A>CCA1721679489SEMA3Ec.633+10T>G (n.633+10T>G)
c.813+10T>G (n.813+10T>G)
n.798+10T>G
 dbSNP gnomAD v4
7g.83407088A>CCA2683557407SEMA3Ec.633+9T>G (n.633+9T>G)
c.813+9T>G (n.813+9T>G)
n.798+9T>G
 gnomAD v4
7g.83407090G>CCA2578928271SEMA3Ec.633+7C>G (n.633+7C>G)
c.813+7C>G (n.813+7C>G)
n.798+7C>G
 gnomAD v4
7g.83407090G>TCA2840228700SEMA3Ec.633+7C>A (n.633+7C>A)
c.813+7C>A (n.813+7C>A)
n.798+7C>A
7g.83407091C=CA1721679491SEMA3Ec.633+6G= (n.633+6G=)
c.813+6G= (n.813+6G=)
n.798+6G=
7g.83407091C>GCA843003553SEMA3Ec.633+6G>C (n.633+6G>C)
c.813+6G>C (n.813+6G>C)
n.798+6G>C
 dbSNP
7g.83407091C>TCA4322208SEMA3Ec.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
7g.83407092C>TCA2683557408SEMA3Ec.633+5G>A (n.633+5G>A)
c.813+5G>A (n.813+5G>A)
n.798+5G>A
 gnomAD v4
7g.83407093T>GCA2578928272SEMA3Ec.633+4A>C (n.633+4A>C)
c.813+4A>C (n.813+4A>C)
n.798+4A>C
7g.83407095A>CCA367930145SEMA3Ec.633+2T>G (n.633+2T>G)
c.813+2T>G (n.813+2T>G)
n.798+2T>G
7g.83407095A>GCA367930146SEMA3Ec.633+2T>C (n.633+2T>C)
c.813+2T>C (n.813+2T>C)
n.798+2T>C
7g.83407095A>TCA367930144SEMA3Ec.633+2T>A (n.633+2T>A)
c.813+2T>A (n.813+2T>A)
n.798+2T>A
7g.83407096C>ACA367930147SEMA3Ec.633+1G>T (n.633+1G>T)
c.813+1G>T (n.813+1G>T)
n.798+1G>T
7g.83407096C>GCA367930148SEMA3Ec.633+1G>C (n.633+1G>C)
c.813+1G>C (n.813+1G>C)
n.798+1G>C
7g.83407096C>TCA367930149SEMA3Ec.633+1G>A (n.633+1G>A)
c.813+1G>A (n.813+1G>A)
n.798+1G>A
 gnomAD v4
7g.83407097C>ACA456135615SEMA3Ec.633G>T (p.Val211=)
c.813G>T (p.Val271=)
n.798G>T
7g.83407097C>GCA456135612SEMA3Ec.633G>C (p.Val211=)
c.813G>C (p.Val271=)
n.798G>C
7g.83407097C>TCA456135614SEMA3Ec.633G>A (p.Val211=)
c.813G>A (p.Val271=)
n.798G>A
7g.83407098A>CCA367930150SEMA3Ec.632T>G (p.Val211Gly)
c.812T>G (p.Val271Gly)
n.797T>G
7g.83407098A>GCA367930151SEMA3Ec.632T>C (p.Val211Ala)
c.812T>C (p.Val271Ala)
n.797T>C
7g.83407098A>TCA367930152SEMA3Ec.632T>A (p.Val211Glu)
c.812T>A (p.Val271Glu)
n.797T>A
7g.83407099C>ACA367930153SEMA3Ec.631G>T (p.Val211Leu)
c.811G>T (p.Val271Leu)
n.796G>T
 gnomAD v4
7g.83407099C>GCA367930155SEMA3Ec.631G>C (p.Val211Leu)
c.811G>C (p.Val271Leu)
n.796G>C
7g.83407099C>TCA367930156SEMA3Ec.631G>A (p.Val211Met)
c.811G>A (p.Val271Met)
n.796G>A
 gnomAD v4
7g.83407100A>CCA367930157SEMA3Ec.630T>G (p.Cys210Trp)
c.810T>G (p.Cys270Trp)
n.795T>G
 gnomAD v4
7g.83407100A>GCA456135622SEMA3Ec.630T>C (p.Cys210=)
c.810T>C (p.Cys270=)
n.795T>C
7g.83407100A>TCA367930158SEMA3Ec.630T>A (p.Cys210Ter)
c.810T>A (p.Cys270Ter)
n.795T>A
7g.83407101C>ACA367930160SEMA3Ec.629G>T (p.Cys210Phe)
c.809G>T (p.Cys270Phe)
n.794G>T
7g.83407101C=CA1721679493SEMA3Ec.629G= (p.Cys210=)
c.809G= (p.Cys270=)
n.794G=
7g.83407101C>GCA367930161SEMA3Ec.629G>C (p.Cys210Ser)
c.809G>C (p.Cys270Ser)
n.794G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.83407101C>TCA367930159SEMA3Ec.629G>A (p.Cys210Tyr)
c.809G>A (p.Cys270Tyr)
n.794G>A
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

Number of alleles fetched