Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24145713G>ACA363276877NRSN1c.355G>A (p.Gly119Arg)
n.257-9058G>A
dbSNP gnomAD v4
6g.24145713G>CCA363276876NRSN1c.355G>C (p.Gly119Arg)
n.257-9058G>C
6g.24145713G=CA1616315830NRSN1c.355G= (p.Gly119=)
n.257-9058G=
6g.24145713G>TCA363276875NRSN1c.355G>T (p.Gly119Ter)
n.257-9058G>T
6g.24145714G>ACA363276878NRSN1c.356G>A (p.Gly119Glu)
n.257-9057G>A
gnomAD v4 COSMIC COSMIC
6g.24145714G>CCA363276879NRSN1c.356G>C (p.Gly119Ala)
n.257-9057G>C
6g.24145714G>TCA363276880NRSN1c.356G>T (p.Gly119Val)
n.257-9057G>T
6g.24145715A>CCA448963136NRSN1c.357A>C (p.Gly119=)
n.257-9056A>C
6g.24145715A>GCA448963137NRSN1c.357A>G (p.Gly119=)
n.257-9056A>G
6g.24145715A>TCA448963138NRSN1c.357A>T (p.Gly119=)
n.257-9056A>T
6g.24145716G>ACA363276881NRSN1c.358G>A (p.Ala120Thr)
n.257-9055G>A
gnomAD v4
6g.24145716G>CCA363276882NRSN1c.358G>C (p.Ala120Pro)
n.257-9055G>C
6g.24145716G>TCA363276883NRSN1c.358G>T (p.Ala120Ser)
n.257-9055G>T
gnomAD v4
6g.24145717C>ACA363276884NRSN1c.359C>A (p.Ala120Asp)
n.257-9054C>A
6g.24145717C=CA1616315831NRSN1c.359C= (p.Ala120=)
n.257-9054C=
6g.24145717C>GCA363276885NRSN1c.359C>G (p.Ala120Gly)
n.257-9054C>G
dbSNP gnomAD v2 gnomAD v4
6g.24145717C>TCA363276886NRSN1c.359C>T (p.Ala120Val)
n.257-9054C>T
6g.24145718T>ACA448963139NRSN1c.360T>A (p.Ala120=)
n.257-9053T>A
6g.24145718T>CCA448963140NRSN1c.360T>C (p.Ala120=)
n.257-9053T>C
6g.24145718T>GCA448963141NRSN1c.360T>G (p.Ala120=)
n.257-9053T>G
6g.24145719G>ACA363276887NRSN1c.361G>A (p.Val121Ile)
n.257-9052G>A
dbSNP gnomAD v3 gnomAD v4
6g.24145719G>CCA363276888NRSN1c.361G>C (p.Val121Leu)
n.257-9052G>C
dbSNP gnomAD v3 gnomAD v4
6g.24145719G=CA1616315832NRSN1c.361G= (p.Val121=)
n.257-9052G=
6g.24145719G>TCA363276889NRSN1c.361G>T (p.Val121Phe)
n.257-9052G>T
6g.24145720T>ACA363276891NRSN1c.362T>A (p.Val121Asp)
n.257-9051T>A
6g.24145720T>CCA363276892NRSN1c.362T>C (p.Val121Ala)
n.257-9051T>C
6g.24145720T>GCA363276890NRSN1c.362T>G (p.Val121Gly)
n.257-9051T>G
6g.24145721T>ACA448963142NRSN1c.363T>A (p.Val121=)
n.257-9050T>A
6g.24145721T>CCA448963144NRSN1c.363T>C (p.Val121=)
n.257-9050T>C
6g.24145721T>GCA448963143NRSN1c.363T>G (p.Val121=)
n.257-9050T>G
6g.24145722C>ACA363276893NRSN1c.364C>A (p.Leu122Ile)
n.257-9049C>A
6g.24145722C>GCA363276894NRSN1c.364C>G (p.Leu122Val)
n.257-9049C>G
6g.24145722C>TCA363276895NRSN1c.364C>T (p.Leu122Phe)
n.257-9049C>T
COSMIC COSMIC
6g.24145723T>ACA363276896NRSN1c.365T>A (p.Leu122His)
n.257-9048T>A
6g.24145723T>CCA363276897NRSN1c.365T>C (p.Leu122Pro)
n.257-9048T>C
6g.24145723T>GCA363276898NRSN1c.365T>G (p.Leu122Arg)
n.257-9048T>G
6g.24145724C>ACA448963145NRSN1c.366C>A (p.Leu122=)
n.257-9047C>A
gnomAD v4
6g.24145724C=CA1616315833NRSN1c.366C= (p.Leu122=)
n.257-9047C=
6g.24145724C>GCA448963146NRSN1c.366C>G (p.Leu122=)
n.257-9047C>G
6g.24145724C>TCA3654362NRSN1c.366C>T (p.Leu122=)
n.257-9047C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145725T>ACA363276899NRSN1c.367T>A (p.Phe123Ile)
n.257-9046T>A
6g.24145725T>CCA363276900NRSN1c.367T>C (p.Phe123Leu)
n.257-9046T>C
gnomAD v4
6g.24145725T>GCA363276901NRSN1c.367T>G (p.Phe123Val)
n.257-9046T>G
6g.24145726T>ACA363276902NRSN1c.368T>A (p.Phe123Tyr)
n.257-9045T>A
6g.24145726T>CCA363276903NRSN1c.368T>C (p.Phe123Ser)
n.257-9045T>C
6g.24145726T>GCA363276904NRSN1c.368T>G (p.Phe123Cys)
n.257-9045T>G
6g.24145727C>ACA363276906NRSN1c.369C>A (p.Phe123Leu)
n.257-9044C>A
6g.24145727C>GCA363276905NRSN1c.369C>G (p.Phe123Leu)
n.257-9044C>G
gnomAD v4
6g.24145727C>TCA448963147NRSN1c.369C>T (p.Phe123=)
n.257-9044C>T
6g.24145728T>ACA363276907NRSN1c.370T>A (p.Cys124Ser)
n.257-9043T>A
6g.24145728T>CCA363276908NRSN1c.370T>C (p.Cys124Arg)
n.257-9043T>C
6g.24145728T>GCA363276909NRSN1c.370T>G (p.Cys124Gly)
n.257-9043T>G
6g.24145729G>ACA363276910NRSN1c.371G>A (p.Cys124Tyr)
n.257-9042G>A
6g.24145729G>CCA363276911NRSN1c.371G>C (p.Cys124Ser)
n.257-9042G>C
6g.24145729G>TCA363276912NRSN1c.371G>T (p.Cys124Phe)
n.257-9042G>T
6g.24145730C>ACA363276913NRSN1c.372C>A (p.Cys124Ter)
n.257-9041C>A
6g.24145730C>GCA363276914NRSN1c.372C>G (p.Cys124Trp)
n.257-9041C>G
6g.24145730C>TCA448963148NRSN1c.372C>T (p.Cys124=)
n.257-9041C>T
gnomAD v4 COSMIC COSMIC
6g.24145731A=CA1616315834NRSN1c.373A= (p.Ile125=)
n.257-9040A=
6g.24145731A>CCA363276915NRSN1c.373A>C (p.Ile125Leu)
n.257-9040A>C
6g.24145731A>GCA136618317NRSN1c.373A>G (p.Ile125Val)
n.257-9040A>G
dbSNP gnomAD v2 gnomAD v4
6g.24145731A>TCA136618318NRSN1c.373A>T (p.Ile125Phe)
n.257-9040A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24145732T>ACA363276916NRSN1c.374T>A (p.Ile125Asn)
n.257-9039T>A
6g.24145732T>CCA3654363NRSN1c.374T>C (p.Ile125Thr)
n.257-9039T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145732T>GCA363276917NRSN1c.374T>G (p.Ile125Ser)
n.257-9039T>G
6g.24145732T=CA1616315835NRSN1c.374T= (p.Ile125=)
n.257-9039T=
6g.24145733T>ACA448963149NRSN1c.375T>A (p.Ile125=)
n.257-9038T>A
6g.24145733T>CCA448963150NRSN1c.375T>C (p.Ile125=)
n.257-9038T>C
6g.24145733T>GCA363276918NRSN1c.375T>G (p.Ile125Met)
n.257-9038T>G
6g.24145734G>ACA363276920NRSN1c.376G>A (p.Gly126Arg)
n.257-9037G>A
6g.24145734G>CCA363276919NRSN1c.376G>C (p.Gly126Arg)
n.257-9037G>C
6g.24145734G>TCA363276921NRSN1c.376G>T (p.Gly126Ter)
n.257-9037G>T
6g.24145735G>ACA363276922NRSN1c.377G>A (p.Gly126Glu)
n.257-9036G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24145735G>CCA363276923NRSN1c.377G>C (p.Gly126Ala)
n.257-9036G>C
dbSNP
6g.24145735G=CA1616315836NRSN1c.377G= (p.Gly126=)
n.257-9036G=
6g.24145735G>TCA363276924NRSN1c.377G>T (p.Gly126Val)
n.257-9036G>T
6g.24145736A>CCA448963151NRSN1c.378A>C (p.Gly126=)
n.257-9035A>C
6g.24145736A>GCA448963152NRSN1c.378A>G (p.Gly126=)
n.257-9035A>G
6g.24145736A>TCA448963153NRSN1c.378A>T (p.Gly126=)
n.257-9035A>T
6g.24145736_24145747delinsAGGCACGTCCATCA1616315837NRSN1c.378_389delinsAGGCACGTCCAT (p.Gly126=)
n.257-9035_257-9024delinsAGGCACGTCCAT
6g.24145737G>ACA363276925NRSN1c.379G>A (p.Gly127Ser)
n.257-9034G>A
dbSNP gnomAD v4
6g.24145737G>CCA363276926NRSN1c.379G>C (p.Gly127Arg)
n.257-9034G>C
6g.24145737G=CA1616315838NRSN1c.379G= (p.Gly127=)
n.257-9034G=
6g.24145737G>TCA363276927NRSN1c.379G>T (p.Gly127Cys)
n.257-9034G>T
6g.24145741_24145751delCA3654364NRSN1c.383_393del (p.Thr128ArgfsTer24)
n.257-9030_257-9020del
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145738G>ACA363276928NRSN1c.380G>A (p.Gly127Asp)
n.257-9033G>A
6g.24145738G>CCA363276929NRSN1c.380G>C (p.Gly127Ala)
n.257-9033G>C
6g.24145738G>TCA363276930NRSN1c.380G>T (p.Gly127Val)
n.257-9033G>T
6g.24145739C>ACA3654365NRSN1c.381C>A (p.Gly127=)
n.257-9032C>A
dbSNP ExAC gnomAD v4
6g.24145739C=CA1616315839NRSN1c.381C= (p.Gly127=)
n.257-9032C=
6g.24145739C>GCA448963154NRSN1c.381C>G (p.Gly127=)
n.257-9032C>G
6g.24145739C>TCA448963155NRSN1c.381C>T (p.Gly127=)
n.257-9032C>T
6g.24145740A=CA1616315840NRSN1c.382A= (p.Thr128=)
n.257-9031A=
6g.24145740A>CCA3654366NRSN1c.382A>C (p.Thr128Pro)
n.257-9031A>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145740A>GCA363276932NRSN1c.382A>G (p.Thr128Ala)
n.257-9031A>G
6g.24145740A>TCA363276931NRSN1c.382A>T (p.Thr128Ser)
n.257-9031A>T
6g.24145741C>ACA363276933NRSN1c.383C>A (p.Thr128Lys)
n.257-9030C>A
6g.24145741C=CA1616315841NRSN1c.383C= (p.Thr128=)
n.257-9030C=
6g.24145741C>GCA363276934NRSN1c.383C>G (p.Thr128Arg)
n.257-9030C>G
6g.24145741C>TCA3654367NRSN1c.383C>T (p.Thr128Met)
n.257-9030C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145742G>ACA3654368NRSN1c.384G>A (p.Thr128=)
n.257-9029G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24145742G>CCA448963156NRSN1c.384G>C (p.Thr128=)
n.257-9029G>C
6g.24145742G=CA1616315842NRSN1c.384G= (p.Thr128=)
n.257-9029G=
6g.24145742G>TCA448963157NRSN1c.384G>T (p.Thr128=)
n.257-9029G>T
6g.24145743T>ACA363276935NRSN1c.385T>A (p.Ser129Thr)
n.257-9028T>A
dbSNP
6g.24145743T>CCA363276936NRSN1c.385T>C (p.Ser129Pro)
n.257-9028T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24145743T>GCA363276937NRSN1c.385T>G (p.Ser129Ala)
n.257-9028T>G
6g.24145743T=CA1616315843NRSN1c.385T= (p.Ser129=)
n.257-9028T=
6g.24145744C>ACA363276938NRSN1c.386C>A (p.Ser129Tyr)
n.257-9027C>A
6g.24145744C=CA1616315844NRSN1c.386C= (p.Ser129=)
n.257-9027C=
6g.24145744C>GCA363276939NRSN1c.386C>G (p.Ser129Cys)
n.257-9027C>G
6g.24145744C>TCA136618319NRSN1c.386C>T (p.Ser129Phe)
n.257-9027C>T
dbSNP
6g.24145745C>ACA448963158NRSN1c.387C>A (p.Ser129=)
n.257-9026C>A
6g.24145745C>GCA448963159NRSN1c.387C>G (p.Ser129=)
n.257-9026C>G
6g.24145745C>TCA448963160NRSN1c.387C>T (p.Ser129=)
n.257-9026C>T
6g.24145746A>CCA363276940NRSN1c.388A>C (p.Met130Leu)
n.257-9025A>C
6g.24145746A>GCA363276941NRSN1c.388A>G (p.Met130Val)
n.257-9025A>G
6g.24145746A>TCA363276942NRSN1c.388A>T (p.Met130Leu)
n.257-9025A>T
6g.24145747T>ACA363276944NRSN1c.389T>A (p.Met130Lys)
n.257-9024T>A
6g.24145747T>CCA3654369NRSN1c.389T>C (p.Met130Thr)
n.257-9024T>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145747T>GCA363276943NRSN1c.389T>G (p.Met130Arg)
n.257-9024T>G
6g.24145747T=CA1616315845NRSN1c.389T= (p.Met130=)
n.257-9024T=
6g.24145748G>ACA363276947NRSN1c.390G>A (p.Met130Ile)
n.257-9023G>A
6g.24145748G>CCA363276945NRSN1c.390G>C (p.Met130Ile)
n.257-9023G>C
6g.24145748G>TCA363276946NRSN1c.390G>T (p.Met130Ile)
n.257-9023G>T
6g.24145749G>ACA363276948NRSN1c.391G>A (p.Ala131Thr)
n.257-9022G>A
gnomAD v4
6g.24145749G>CCA363276949NRSN1c.391G>C (p.Ala131Pro)
n.257-9022G>C
6g.24145749G>TCA363276950NRSN1c.391G>T (p.Ala131Ser)
n.257-9022G>T
6g.24145750C>ACA363276952NRSN1c.392C>A (p.Ala131Glu)
n.257-9021C>A
6g.24145750C=CA1616315846NRSN1c.392C= (p.Ala131=)
n.257-9021C=
6g.24145750C>GCA363276951NRSN1c.392C>G (p.Ala131Gly)
n.257-9021C>G
6g.24145750C>TCA3654370NRSN1c.392C>T (p.Ala131Val)
n.257-9021C>T
dbSNP ExAC gnomAD v2
6g.24145751A>CCA448963161NRSN1c.393A>C (p.Ala131=)
n.257-9020A>C
6g.24145751A>GCA448963162NRSN1c.393A>G (p.Ala131=)
n.257-9020A>G
6g.24145751A>TCA448963163NRSN1c.393A>T (p.Ala131=)
n.257-9020A>T
COSMIC COSMIC
6g.24145752G>ACA363276953NRSN1c.394G>A (p.Gly132Arg)
n.257-9019G>A
COSMIC COSMIC
6g.24145752G>CCA363276954NRSN1c.394G>C (p.Gly132Arg)
n.257-9019G>C
dbSNP gnomAD v2 gnomAD v4
6g.24145752G=CA1616315847NRSN1c.394G= (p.Gly132=)
n.257-9019G=
6g.24145752G>TCA363276955NRSN1c.394G>T (p.Gly132Trp)
n.257-9019G>T
6g.24145753G>ACA363276956NRSN1c.395G>A (p.Gly132Glu)
n.257-9018G>A
6g.24145753G>CCA363276957NRSN1c.395G>C (p.Gly132Ala)
n.257-9018G>C
6g.24145753G>TCA363276958NRSN1c.395G>T (p.Gly132Val)
n.257-9018G>T
gnomAD v4
6g.24145754G>ACA448963164NRSN1c.396G>A (p.Gly132=)
n.257-9017G>A
COSMIC
6g.24145754G>CCA448963166NRSN1c.396G>C (p.Gly132=)
n.257-9017G>C
6g.24145754G>TCA448963165NRSN1c.396G>T (p.Gly132=)
n.257-9017G>T
6g.24145755T>ACA363276959NRSN1c.397T>A (p.Cys133Ser)
n.257-9016T>A
6g.24145755T>CCA363276961NRSN1c.397T>C (p.Cys133Arg)
n.257-9016T>C
6g.24145755T>GCA363276960NRSN1c.397T>G (p.Cys133Gly)
n.257-9016T>G
dbSNP
6g.24145755T=CA1616315848NRSN1c.397T= (p.Cys133=)
n.257-9016T=
6g.24145756G>ACA363276962NRSN1c.398G>A (p.Cys133Tyr)
n.257-9015G>A
6g.24145756G>CCA363276963NRSN1c.398G>C (p.Cys133Ser)
n.257-9015G>C
6g.24145756G>TCA363276964NRSN1c.398G>T (p.Cys133Phe)
n.257-9015G>T
6g.24145757C>ACA363276965NRSN1c.399C>A (p.Cys133Ter)
n.257-9014C>A
6g.24145757C=CA1616315849NRSN1c.399C= (p.Cys133=)
n.257-9014C=
6g.24145757C>GCA363276966NRSN1c.399C>G (p.Cys133Trp)
n.257-9014C>G
dbSNP
6g.24145757C>TCA448963167NRSN1c.399C>T (p.Cys133=)
n.257-9014C>T
dbSNP gnomAD v2
6g.24145758C>ACA363276967NRSN1c.400C>A (p.Leu134Met)
n.257-9013C>A
COSMIC COSMIC
6g.24145758C>GCA363276968NRSN1c.400C>G (p.Leu134Val)
n.257-9013C>G
6g.24145758C>TCA448963168NRSN1c.400C>T (p.Leu134=)
n.257-9013C>T
6g.24145759T>ACA363276969NRSN1c.401T>A (p.Leu134Gln)
n.257-9012T>A
6g.24145759T>CCA363276970NRSN1c.401T>C (p.Leu134Pro)
n.257-9012T>C
6g.24145759T>GCA363276971NRSN1c.401T>G (p.Leu134Arg)
n.257-9012T>G
6g.24145760G>ACA448963169NRSN1c.402G>A (p.Leu134=)
n.257-9011G>A
6g.24145760G>CCA448963170NRSN1c.402G>C (p.Leu134=)
n.257-9011G>C
6g.24145760G>TCA448963171NRSN1c.402G>T (p.Leu134=)
n.257-9011G>T
6g.24145761C>ACA363276972NRSN1c.403C>A (p.Leu135Met)
n.257-9010C>A
6g.24145761C>GCA363276973NRSN1c.403C>G (p.Leu135Val)
n.257-9010C>G
6g.24145761C>TCA448963172NRSN1c.403C>T (p.Leu135=)
n.257-9010C>T
6g.24145762T>ACA363276975NRSN1c.404T>A (p.Leu135Gln)
n.257-9009T>A
6g.24145762T>CCA363276976NRSN1c.404T>C (p.Leu135Pro)
n.257-9009T>C
6g.24145762T>GCA363276974NRSN1c.404T>G (p.Leu135Arg)
n.257-9009T>G
6g.24145763G>ACA448963174NRSN1c.405G>A (p.Leu135=)
n.257-9008G>A
COSMIC COSMIC
6g.24145763G>CCA448963175NRSN1c.405G>C (p.Leu135=)
n.257-9008G>C
6g.24145763G>TCA448963173NRSN1c.405G>T (p.Leu135=)
n.257-9008G>T
6g.24145764A>CCA363276977NRSN1c.406A>C (p.Met136Leu)
n.257-9007A>C
6g.24145764A>GCA363276979NRSN1c.406A>G (p.Met136Val)
n.257-9007A>G
6g.24145764A>TCA363276978NRSN1c.406A>T (p.Met136Leu)
n.257-9007A>T
6g.24145765T>ACA363276980NRSN1c.407T>A (p.Met136Lys)
n.257-9006T>A
dbSNP
6g.24145765T>CCA363276981NRSN1c.407T>C (p.Met136Thr)
n.257-9006T>C
6g.24145765T>GCA363276982NRSN1c.407T>G (p.Met136Arg)
n.257-9006T>G
6g.24145765T=CA1616315850NRSN1c.407T= (p.Met136=)
n.257-9006T=
6g.24145766G>ACA363276983NRSN1c.408G>A (p.Met136Ile)
n.257-9005G>A
gnomAD v4
6g.24145766G>CCA363276984NRSN1c.408G>C (p.Met136Ile)
n.257-9005G>C
gnomAD v4
6g.24145766G>TCA363276985NRSN1c.408G>T (p.Met136Ile)
n.257-9005G>T
6g.24145767T>ACA363276986NRSN1c.409T>A (p.Ser137Thr)
n.257-9004T>A
6g.24145767T>CCA363276987NRSN1c.409T>C (p.Ser137Pro)
n.257-9004T>C
6g.24145767T>GCA363276988NRSN1c.409T>G (p.Ser137Ala)
n.257-9004T>G
6g.24145768C>ACA363276989NRSN1c.410C>A (p.Ser137Ter)
n.257-9003C>A
6g.24145768C=CA1616315852NRSN1c.410C= (p.Ser137=)
n.257-9003C=
6g.24145768C>GCA363276990NRSN1c.410C>G (p.Ser137Trp)
n.257-9003C>G
6g.24145768C>TCA363276991NRSN1c.410C>T (p.Ser137Leu)
n.257-9003C>T
dbSNP gnomAD v2 gnomAD v4
6g.24145768_24145769delinsCGCA1616315851NRSN1c.410_411delinsCG (p.Ser137=)
n.257-9003_257-9002delinsCG
6g.24145769G>ACA3654372NRSN1c.411G>A (p.Ser137=)
n.257-9002G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145769G>CCA136618320NRSN1c.411G>C (p.Ser137=)
n.257-9002G>C
dbSNP gnomAD v4
6g.24145769G=CA1616315853NRSN1c.411G= (p.Ser137=)
n.257-9002G=
6g.24145769G>TCA448963176NRSN1c.411G>T (p.Ser137=)
n.257-9002G>T
gnomAD v4
6g.24145770delCA3654371NRSN1c.412del (p.Val138CysfsTer3)
n.257-9001del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145770G>ACA363276992NRSN1c.412G>A (p.Val138Met)
n.257-9001G>A
dbSNP gnomAD v4
6g.24145770G>CCA363276993NRSN1c.412G>C (p.Val138Leu)
n.257-9001G>C
gnomAD v4
6g.24145770G=CA1616315854NRSN1c.412G= (p.Val138=)
n.257-9001G=
6g.24145770G>TCA363276994NRSN1c.412G>T (p.Val138Leu)
n.257-9001G>T
6g.24145771T>ACA363276995NRSN1c.413T>A (p.Val138Glu)
n.257-9000T>A
6g.24145771T>CCA363276996NRSN1c.413T>C (p.Val138Ala)
n.257-9000T>C
COSMIC COSMIC
6g.24145771T>GCA363276997NRSN1c.413T>G (p.Val138Gly)
n.257-9000T>G
dbSNP
6g.24145771T=CA1616315855NRSN1c.413T= (p.Val138=)
n.257-9000T=
6g.24145774_24145777delCA2677512516NRSN1c.416_419del (p.Phe139Ter)
n.257-8997_257-8994del
gnomAD v4
6g.24145772G>ACA448963177NRSN1c.414G>A (p.Val138=)
n.257-8999G>A
gnomAD v4
6g.24145772G>CCA448963178NRSN1c.414G>C (p.Val138=)
n.257-8999G>C
6g.24145772G>TCA448963179NRSN1c.414G>T (p.Val138=)
n.257-8999G>T
6g.24145773T>ACA363276998NRSN1c.415T>A (p.Phe139Ile)
n.257-8998T>A
6g.24145773T>CCA363276999NRSN1c.415T>C (p.Phe139Leu)
n.257-8998T>C
6g.24145773T>GCA363277000NRSN1c.415T>G (p.Phe139Val)
n.257-8998T>G
6g.24145774T>ACA363277001NRSN1c.416T>A (p.Phe139Tyr)
n.257-8997T>A
6g.24145774T>CCA363277002NRSN1c.416T>C (p.Phe139Ser)
n.257-8997T>C
gnomAD v4
6g.24145774T>GCA363277003NRSN1c.416T>G (p.Phe139Cys)
n.257-8997T>G
6g.24145775T>ACA363277004NRSN1c.417T>A (p.Phe139Leu)
n.257-8996T>A
6g.24145775T>CCA3654373NRSN1c.417T>C (p.Phe139=)
n.257-8996T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145775T>GCA363277005NRSN1c.417T>G (p.Phe139Leu)
n.257-8996T>G
6g.24145775T=CA1616315856NRSN1c.417T= (p.Phe139=)
n.257-8996T=
6g.24145776G>ACA363277006NRSN1c.418G>A (p.Val140Ile)
n.257-8995G>A
gnomAD v4
6g.24145776G>CCA363277007NRSN1c.418G>C (p.Val140Leu)
n.257-8995G>C
dbSNP gnomAD v4
6g.24145776G=CA1616315857NRSN1c.418G= (p.Val140=)
n.257-8995G=
6g.24145776G>TCA363277008NRSN1c.418G>T (p.Val140Leu)
n.257-8995G>T
6g.24145777T>ACA363277009NRSN1c.419T>A (p.Val140Glu)
n.257-8994T>A
6g.24145777T>CCA363277010NRSN1c.419T>C (p.Val140Ala)
n.257-8994T>C
gnomAD v4
6g.24145777T>GCA363277011NRSN1c.419T>G (p.Val140Gly)
n.257-8994T>G
6g.24145778A>CCA448963180NRSN1c.420A>C (p.Val140=)
n.257-8993A>C
6g.24145778A>GCA448963181NRSN1c.420A>G (p.Val140=)
n.257-8993A>G
6g.24145778A>TCA448963182NRSN1c.420A>T (p.Val140=)
n.257-8993A>T
6g.24145779A>CCA363277012NRSN1c.421A>C (p.Lys141Gln)
n.257-8992A>C
gnomAD v4
6g.24145779A>GCA363277013NRSN1c.421A>G (p.Lys141Glu)
n.257-8992A>G
6g.24145779A>TCA363277014NRSN1c.421A>T (p.Lys141Ter)
n.257-8992A>T
6g.24145780A>CCA363277015NRSN1c.422A>C (p.Lys141Thr)
n.257-8991A>C
6g.24145780A>GCA363277016NRSN1c.422A>G (p.Lys141Arg)
n.257-8991A>G
6g.24145780A>TCA363277017NRSN1c.422A>T (p.Lys141Met)
n.257-8991A>T
6g.24145781G>ACA3654374NRSN1c.423G>A (p.Lys141=)
n.257-8990G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145781G>CCA363277018NRSN1c.423G>C (p.Lys141Asn)
n.257-8990G>C
gnomAD v4
6g.24145781G=CA1616315858NRSN1c.423G= (p.Lys141=)
n.257-8990G=
6g.24145781G>TCA363277019NRSN1c.423G>T (p.Lys141Asn)
n.257-8990G>T
6g.24145782A>CCA363277020NRSN1c.424A>C (p.Ser142Arg)
n.257-8989A>C
6g.24145782A>GCA363277021NRSN1c.424A>G (p.Ser142Gly)
n.257-8989A>G
6g.24145782A>TCA363277022NRSN1c.424A>T (p.Ser142Cys)
n.257-8989A>T
6g.24145783G>ACA363277023NRSN1c.425G>A (p.Ser142Asn)
n.257-8988G>A
6g.24145783G>CCA363277024NRSN1c.425G>C (p.Ser142Thr)
n.257-8988G>C
6g.24145783G>TCA363277025NRSN1c.425G>T (p.Ser142Ile)
n.257-8988G>T
6g.24145784C>ACA363277026NRSN1c.426C>A (p.Ser142Arg)
n.257-8987C>A
6g.24145784C>GCA363277027NRSN1c.426C>G (p.Ser142Arg)
n.257-8987C>G
6g.24145784C>TCA448963183NRSN1c.426C>T (p.Ser142=)
n.257-8987C>T
6g.24145785T>ACA363277028NRSN1c.427T>A (p.Tyr143Asn)
n.257-8986T>A
6g.24145785T>CCA363277029NRSN1c.427T>C (p.Tyr143His)
n.257-8986T>C
6g.24145785T>GCA363277030NRSN1c.427T>G (p.Tyr143Asp)
n.257-8986T>G
6g.24145785_24145790delinsTACTCCCA1616315859NRSN1c.427_432delinsTACTCC (p.Tyr143=)
n.257-8986_257-8981delinsTACTCC
6g.24145786A>CCA363277033NRSN1c.428A>C (p.Tyr143Ser)
n.257-8985A>C
gnomAD v4
6g.24145786A>GCA363277032NRSN1c.428A>G (p.Tyr143Cys)
n.257-8985A>G
6g.24145786A>TCA363277031NRSN1c.428A>T (p.Tyr143Phe)
n.257-8985A>T
6g.24145787_24145791delCA1616315860NRSN1c.429_433del (p.Tyr143Ter)
n.257-8984_257-8980del
dbSNP
6g.24145787C>ACA363277034NRSN1c.429C>A (p.Tyr143Ter)
n.257-8984C>A
6g.24145787C>GCA363277035NRSN1c.429C>G (p.Tyr143Ter)
n.257-8984C>G
6g.24145787C>TCA448963184NRSN1c.429C>T (p.Tyr143=)
n.257-8984C>T
6g.24145788T>ACA363277036NRSN1c.430T>A (p.Ser144Thr)
n.257-8983T>A
6g.24145788T>CCA363277038NRSN1c.430T>C (p.Ser144Pro)
n.257-8983T>C
6g.24145788T>GCA363277037NRSN1c.430T>G (p.Ser144Ala)
n.257-8983T>G
6g.24145789C>ACA363277039NRSN1c.431C>A (p.Ser144Tyr)
n.257-8982C>A
dbSNP gnomAD v3 gnomAD v4
6g.24145789C=CA1616315861NRSN1c.431C= (p.Ser144=)
n.257-8982C=
6g.24145789C>GCA363277041NRSN1c.431C>G (p.Ser144Cys)
n.257-8982C>G
6g.24145789C>TCA363277040NRSN1c.431C>T (p.Ser144Phe)
n.257-8982C>T
ClinVar gnomAD v4
6g.24145790C>ACA448963185NRSN1c.432C>A (p.Ser144=)
n.257-8981C>A
6g.24145790C>GCA448963187NRSN1c.432C>G (p.Ser144=)
n.257-8981C>G
6g.24145790C>TCA448963186NRSN1c.432C>T (p.Ser144=)
n.257-8981C>T
6g.24145791A=CA1616315862NRSN1c.433A= (p.Lys145=)
n.257-8980A=
6g.24145791A>CCA363277042NRSN1c.433A>C (p.Lys145Gln)
n.257-8980A>C
6g.24145791A>GCA363277043NRSN1c.433A>G (p.Lys145Glu)
n.257-8980A>G
6g.24145791A>TCA363277044NRSN1c.433A>T (p.Lys145Ter)
n.257-8980A>T
dbSNP
6g.24145792A=CA1616315863NRSN1c.434A= (p.Lys145=)
n.257-8979A=
6g.24145792A>CCA363277045NRSN1c.434A>C (p.Lys145Thr)
n.257-8979A>C
6g.24145792A>GCA136618321NRSN1c.434A>G (p.Lys145Arg)
n.257-8979A>G
dbSNP gnomAD v4
6g.24145792A>TCA363277046NRSN1c.434A>T (p.Lys145Ile)
n.257-8979A>T
6g.24145797_24145799delCA2677512517NRSN1c.439_441del (p.Glu147del)
n.257-8974_257-8972del
gnomAD v4
6g.24145793A>CCA363277047NRSN1c.435A>C (p.Lys145Asn)
n.257-8978A>C
6g.24145793A>GCA448963188NRSN1c.435A>G (p.Lys145=)
n.257-8978A>G
6g.24145793A>TCA363277048NRSN1c.435A>T (p.Lys145Asn)
n.257-8978A>T
6g.24145794G>ACA363277049NRSN1c.436G>A (p.Glu146Lys)
n.257-8977G>A
COSMIC COSMIC
6g.24145794G>CCA363277050NRSN1c.436G>C (p.Glu146Gln)
n.257-8977G>C
6g.24145794G>TCA363277051NRSN1c.436G>T (p.Glu146Ter)
n.257-8977G>T
6g.24145795A>CCA363277054NRSN1c.437A>C (p.Glu146Ala)
n.257-8976A>C
6g.24145795A>GCA363277052NRSN1c.437A>G (p.Glu146Gly)
n.257-8976A>G
6g.24145795A>TCA363277053NRSN1c.437A>T (p.Glu146Val)
n.257-8976A>T
6g.24145796A>CCA363277055NRSN1c.438A>C (p.Glu146Asp)
n.257-8975A>C
6g.24145796A>GCA448963189NRSN1c.438A>G (p.Glu146=)
n.257-8975A>G
6g.24145796A>TCA363277056NRSN1c.438A>T (p.Glu146Asp)
n.257-8975A>T
6g.24145797G>ACA363277057NRSN1c.439G>A (p.Glu147Lys)
n.257-8974G>A
6g.24145797G>CCA363277058NRSN1c.439G>C (p.Glu147Gln)
n.257-8974G>C
6g.24145797G>TCA363277059NRSN1c.439G>T (p.Glu147Ter)
n.257-8974G>T
6g.24145798A>CCA363277060NRSN1c.440A>C (p.Glu147Ala)
n.257-8973A>C
6g.24145798A>GCA363277061NRSN1c.440A>G (p.Glu147Gly)
n.257-8973A>G
6g.24145798A>TCA363277062NRSN1c.440A>T (p.Glu147Val)
n.257-8973A>T
gnomAD v4
6g.24145799A>CCA363277063NRSN1c.441A>C (p.Glu147Asp)
n.257-8972A>C
6g.24145799A>GCA448963190NRSN1c.441A>G (p.Glu147=)
n.257-8972A>G
6g.24145799A>TCA363277064NRSN1c.441A>T (p.Glu147Asp)
n.257-8972A>T
6g.24145799_24145806delCA2677512518NRSN1c.441_448del (p.Glu147AspfsTer6)
n.257-8972_257-8965del
gnomAD v4
6g.24145800A>CCA363277066NRSN1c.442A>C (p.Lys148Gln)
n.257-8971A>C
6g.24145800A>GCA363277067NRSN1c.442A>G (p.Lys148Glu)
n.257-8971A>G
6g.24145800A>TCA363277065NRSN1c.442A>T (p.Lys148Ter)
n.257-8971A>T
6g.24145801A=CA1616315864NRSN1c.443A= (p.Lys148=)
n.257-8970A=
6g.24145801A>CCA363277068NRSN1c.443A>C (p.Lys148Thr)
n.257-8970A>C
dbSNP gnomAD v4
6g.24145801A>GCA363277069NRSN1c.443A>G (p.Lys148Arg)
n.257-8970A>G
6g.24145801A>TCA363277070NRSN1c.443A>T (p.Lys148Ile)
n.257-8970A>T
6g.24145802A=CA1616315865NRSN1c.444A= (p.Lys148=)
n.257-8969A=
6g.24145802A>CCA363277071NRSN1c.444A>C (p.Lys148Asn)
n.257-8969A>C
6g.24145802A>GCA448963191NRSN1c.444A>G (p.Lys148=)
n.257-8969A>G
gnomAD v4
6g.24145802A>TCA3654375NRSN1c.444A>T (p.Lys148Asn)
n.257-8969A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24145803T>ACA363277072NRSN1c.445T>A (p.Phe149Ile)
n.257-8968T>A
6g.24145803T>CCA363277073NRSN1c.445T>C (p.Phe149Leu)
n.257-8968T>C
gnomAD v4
6g.24145803T>GCA363277074NRSN1c.445T>G (p.Phe149Val)
n.257-8968T>G
gnomAD v4
6g.24145804T>ACA363277075NRSN1c.446T>A (p.Phe149Tyr)
n.257-8967T>A
6g.24145804T>CCA363277076NRSN1c.446T>C (p.Phe149Ser)
n.257-8967T>C
6g.24145804T>GCA363277077NRSN1c.446T>G (p.Phe149Cys)
n.257-8967T>G
6g.24145805C>ACA3654376NRSN1c.447C>A (p.Phe149Leu)
n.257-8966C>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145805C=CA1616315866NRSN1c.447C= (p.Phe149=)
n.257-8966C=
6g.24145805C>GCA363277078NRSN1c.447C>G (p.Phe149Leu)
n.257-8966C>G
6g.24145805C>TCA448963192NRSN1c.447C>T (p.Phe149=)
n.257-8966C>T
6g.24145806C>ACA363277081NRSN1c.448C>A (p.Leu150Ile)
n.257-8965C>A
6g.24145806C=CA1616315867NRSN1c.448C= (p.Leu150=)
n.257-8965C=
6g.24145806C>GCA363277080NRSN1c.448C>G (p.Leu150Val)
n.257-8965C>G
6g.24145806C>TCA363277079NRSN1c.448C>T (p.Leu150Phe)
n.257-8965C>T
dbSNP gnomAD v2 gnomAD v4
6g.24145807T>ACA363277082NRSN1c.449T>A (p.Leu150His)
n.257-8964T>A
6g.24145807T>CCA363277083NRSN1c.449T>C (p.Leu150Pro)
n.257-8964T>C
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.24145807T>GCA363277084NRSN1c.449T>G (p.Leu150Arg)
n.257-8964T>G
6g.24145807T=CA1616315868NRSN1c.449T= (p.Leu150=)
n.257-8964T=
6g.24145808C>ACA448963193NRSN1c.450C>A (p.Leu150=)
n.257-8963C>A
6g.24145808C=CA1616315869NRSN1c.450C= (p.Leu150=)
n.257-8963C=
6g.24145808C>GCA448963194NRSN1c.450C>G (p.Leu150=)
n.257-8963C>G
dbSNP gnomAD v2 gnomAD v4
6g.24145808C>TCA448963195NRSN1c.450C>T (p.Leu150=)
n.257-8963C>T
6g.24145809C>ACA363277085NRSN1c.451C>A (p.Gln151Lys)
n.257-8962C>A
6g.24145809C>GCA363277086NRSN1c.451C>G (p.Gln151Glu)
n.257-8962C>G
6g.24145809C>TCA363277087NRSN1c.451C>T (p.Gln151Ter)
n.257-8962C>T
gnomAD v4
6g.24145810A=CA1616315870NRSN1c.452A= (p.Gln151=)
n.257-8961A=
6g.24145810A>CCA363277088NRSN1c.452A>C (p.Gln151Pro)
n.257-8961A>C
6g.24145810A>GCA3654377NRSN1c.452A>G (p.Gln151Arg)
n.257-8961A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145810A>TCA363277089NRSN1c.452A>T (p.Gln151Leu)
n.257-8961A>T
6g.24145811delCA2677512519NRSN1c.453del (p.Gln151HisfsTer?)
n.257-8960del
gnomAD v4
6g.24145811G>ACA3654378NRSN1c.453G>A (p.Gln151=)
n.257-8960G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24145811G>CCA363277090NRSN1c.453G>C (p.Gln151His)
n.257-8960G>C
6g.24145811G=CA1616315871NRSN1c.453G= (p.Gln151=)
n.257-8960G=
6g.24145811G>TCA363277091NRSN1c.453G>T (p.Gln151His)
n.257-8960G>T
6g.24145812C>ACA363277094NRSN1c.454C>A (p.Gln152Lys)
n.257-8959C>A
6g.24145812C>GCA363277093NRSN1c.454C>G (p.Gln152Glu)
n.257-8959C>G
6g.24145812C>TCA363277092NRSN1c.454C>T (p.Gln152Ter)
n.257-8959C>T
6g.24145813delCA2677512520NRSN1c.455del (p.Gln152ArgfsTer?)
n.257-8958del
gnomAD v4
6g.24145813A>CCA363277095NRSN1c.455A>C (p.Gln152Pro)
n.257-8958A>C
6g.24145813A>GCA363277097NRSN1c.455A>G (p.Gln152Arg)
n.257-8958A>G
6g.24145813A>TCA363277096NRSN1c.455A>T (p.Gln152Leu)
n.257-8958A>T

Number of alleles fetched