Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15180023C>ACA2583062688NOTCH3c.3327+49G>T (n.3327+49G>T)
c.3168+49G>T (n.3168+49G>T)
c.3171+49G>T (n.3171+49G>T)
 gnomAD v4
19g.15180023C=CA2324744194NOTCH3c.3327+49G= (n.3327+49G=)
c.3168+49G= (n.3168+49G=)
c.3171+49G= (n.3171+49G=)
19g.15180023C>GCA9263119NOTCH3c.3327+49G>C (n.3327+49G>C)
c.3168+49G>C (n.3168+49G>C)
c.3171+49G>C (n.3171+49G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180023C>TCA305769900NOTCH3c.3327+49G>A (n.3327+49G>A)
c.3168+49G>A (n.3168+49G>A)
c.3171+49G>A (n.3171+49G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180024C>ACA2583062691NOTCH3c.3327+48G>T (n.3327+48G>T)
c.3168+48G>T (n.3168+48G>T)
c.3171+48G>T (n.3171+48G>T)
 gnomAD v4
19g.15180024C>TCA2583062693NOTCH3c.3327+48G>A (n.3327+48G>A)
c.3168+48G>A (n.3168+48G>A)
c.3171+48G>A (n.3171+48G>A)
 gnomAD v4
19g.15180025C>ACA2583062696NOTCH3c.3327+47G>T (n.3327+47G>T)
c.3168+47G>T (n.3168+47G>T)
c.3171+47G>T (n.3171+47G>T)
 gnomAD v4
19g.15180025C=CA2324744195NOTCH3c.3327+47G= (n.3327+47G=)
c.3168+47G= (n.3168+47G=)
c.3171+47G= (n.3171+47G=)
19g.15180025C>GCA305769910NOTCH3c.3327+47G>C (n.3327+47G>C)
c.3168+47G>C (n.3168+47G>C)
c.3171+47G>C (n.3171+47G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180027A=CA2324744196NOTCH3c.3327+45T= (n.3327+45T=)
c.3168+45T= (n.3168+45T=)
c.3171+45T= (n.3171+45T=)
19g.15180027A>CCA9263120NOTCH3c.3327+45T>G (n.3327+45T>G)
c.3168+45T>G (n.3168+45T>G)
c.3171+45T>G (n.3171+45T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180028G>ACA2576654635NOTCH3c.3327+44C>T (n.3327+44C>T)
c.3168+44C>T (n.3168+44C>T)
c.3171+44C>T (n.3171+44C>T)
 dbSNP
19g.15180028G>TCA2583062700NOTCH3c.3327+44C>A (n.3327+44C>A)
c.3168+44C>A (n.3168+44C>A)
c.3171+44C>A (n.3171+44C>A)
 gnomAD v4
19g.15180029C>ACA2324744198NOTCH3c.3327+43G>T (n.3327+43G>T)
c.3168+43G>T (n.3168+43G>T)
c.3171+43G>T (n.3171+43G>T)
 dbSNP gnomAD v4
19g.15180029C=CA2324744197NOTCH3c.3327+43G= (n.3327+43G=)
c.3168+43G= (n.3168+43G=)
c.3171+43G= (n.3171+43G=)
19g.15180031T>CCA9263121NOTCH3c.3327+41A>G (n.3327+41A>G)
c.3168+41A>G (n.3168+41A>G)
c.3171+41A>G (n.3171+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180031T>GCA631943789NOTCH3c.3327+41A>C (n.3327+41A>C)
c.3168+41A>C (n.3168+41A>C)
c.3171+41A>C (n.3171+41A>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180031T=CA2324744199NOTCH3c.3327+41A= (n.3327+41A=)
c.3168+41A= (n.3168+41A=)
c.3171+41A= (n.3171+41A=)
19g.15180032G>TCA2583062703NOTCH3c.3327+40C>A (n.3327+40C>A)
c.3168+40C>A (n.3168+40C>A)
c.3171+40C>A (n.3171+40C>A)
 gnomAD v4
19g.15180032_15180033delinsGCCA2324744200NOTCH3c.3327+39_3327+40delinsGC (n.3327+39_3327+40delinsGC)
c.3168+39_3168+40delinsGC (n.3168+39_3168+40delinsGC)
c.3171+39_3171+40delinsGC (n.3171+39_3171+40delinsGC)
19g.15180033C=CA2324744202NOTCH3c.3327+39G= (n.3327+39G=)
c.3168+39G= (n.3168+39G=)
c.3171+39G= (n.3171+39G=)
19g.15180033C>TCA631943791NOTCH3c.3327+39G>A (n.3327+39G>A)
c.3168+39G>A (n.3168+39G>A)
c.3171+39G>A (n.3171+39G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180035delCA2324744201NOTCH3c.3327+39del (n.3327+39del)
c.3168+39del (n.3168+39del)
c.3171+39del (n.3171+39del)
 dbSNP gnomAD v3 gnomAD v4
19g.15180034C>ACA2583062706NOTCH3c.3327+38G>T (n.3327+38G>T)
c.3168+38G>T (n.3168+38G>T)
c.3171+38G>T (n.3171+38G>T)
 gnomAD v4
19g.15180034C=CA2324744203NOTCH3c.3327+38G= (n.3327+38G=)
c.3168+38G= (n.3168+38G=)
c.3171+38G= (n.3171+38G=)
19g.15180034C>TCA9263122NOTCH3c.3327+38G>A (n.3327+38G>A)
c.3168+38G>A (n.3168+38G>A)
c.3171+38G>A (n.3171+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180035C=CA2324744204NOTCH3c.3327+37G= (n.3327+37G=)
c.3168+37G= (n.3168+37G=)
c.3171+37G= (n.3171+37G=)
19g.15180035C>TCA631943795NOTCH3c.3327+37G>A (n.3327+37G>A)
c.3168+37G>A (n.3168+37G>A)
c.3171+37G>A (n.3171+37G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15180036A=CA2324744205NOTCH3c.3327+36T= (n.3327+36T=)
c.3168+36T= (n.3168+36T=)
c.3171+36T= (n.3171+36T=)
19g.15180036A>GCA2324744206NOTCH3c.3327+36T>C (n.3327+36T>C)
c.3168+36T>C (n.3168+36T>C)
c.3171+36T>C (n.3171+36T>C)
 dbSNP gnomAD v4
19g.15180036A>TCA2735671481NOTCH3c.3327+36T>A (n.3327+36T>A)
c.3168+36T>A (n.3168+36T>A)
c.3171+36T>A (n.3171+36T>A)
 dbSNP
19g.15180037C>ACA9263123NOTCH3c.3327+35G>T (n.3327+35G>T)
c.3168+35G>T (n.3168+35G>T)
c.3171+35G>T (n.3171+35G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180037C=CA2324744207NOTCH3c.3327+35G= (n.3327+35G=)
c.3168+35G= (n.3168+35G=)
c.3171+35G= (n.3171+35G=)
19g.15180037C>TCA9263124NOTCH3c.3327+35G>A (n.3327+35G>A)
c.3168+35G>A (n.3168+35G>A)
c.3171+35G>A (n.3171+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180038C>TCA2583062711NOTCH3c.3327+34G>A (n.3327+34G>A)
c.3168+34G>A (n.3168+34G>A)
c.3171+34G>A (n.3171+34G>A)
 gnomAD v4
19g.15180040C=CA2324744208NOTCH3c.3327+32G= (n.3327+32G=)
c.3168+32G= (n.3168+32G=)
c.3171+32G= (n.3171+32G=)
19g.15180040C>TCA631943797NOTCH3c.3327+32G>A (n.3327+32G>A)
c.3168+32G>A (n.3168+32G>A)
c.3171+32G>A (n.3171+32G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15180041C>TCA2583062714NOTCH3c.3327+31G>A (n.3327+31G>A)
c.3168+31G>A (n.3168+31G>A)
c.3171+31G>A (n.3171+31G>A)
 gnomAD v4
19g.15180043C>TCA2583062716NOTCH3c.3327+29G>A (n.3327+29G>A)
c.3168+29G>A (n.3168+29G>A)
c.3171+29G>A (n.3171+29G>A)
 gnomAD v4
19g.15180046C>ACA2735795008NOTCH3c.3327+26G>T (n.3327+26G>T)
c.3168+26G>T (n.3168+26G>T)
c.3171+26G>T (n.3171+26G>T)
 dbSNP
19g.15180046C>TCA2576654637NOTCH3c.3327+26G>A (n.3327+26G>A)
c.3168+26G>A (n.3168+26G>A)
c.3171+26G>A (n.3171+26G>A)
19g.15180047C>TCA2583062718NOTCH3c.3327+25G>A (n.3327+25G>A)
c.3168+25G>A (n.3168+25G>A)
c.3171+25G>A (n.3171+25G>A)
 gnomAD v4
19g.15180048C=CA2324744209NOTCH3c.3327+24G= (n.3327+24G=)
c.3168+24G= (n.3168+24G=)
c.3171+24G= (n.3171+24G=)
19g.15180048C>GCA9263125NOTCH3c.3327+24G>C (n.3327+24G>C)
c.3168+24G>C (n.3168+24G>C)
c.3171+24G>C (n.3171+24G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180048C>TCA2583062726NOTCH3c.3327+24G>A (n.3327+24G>A)
c.3168+24G>A (n.3168+24G>A)
c.3171+24G>A (n.3171+24G>A)
 gnomAD v4
19g.15180049T>CCA2583062729NOTCH3c.3327+23A>G (n.3327+23A>G)
c.3168+23A>G (n.3168+23A>G)
c.3171+23A>G (n.3171+23A>G)
 gnomAD v4
19g.15180050C=CA2324744211NOTCH3c.3327+22G= (n.3327+22G=)
c.3168+22G= (n.3168+22G=)
c.3171+22G= (n.3171+22G=)
19g.15180050C>GCA631943806NOTCH3c.3327+22G>C (n.3327+22G>C)
c.3168+22G>C (n.3168+22G>C)
c.3171+22G>C (n.3171+22G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.15180050C>TCA9263127NOTCH3c.3327+22G>A (n.3327+22G>A)
c.3168+22G>A (n.3168+22G>A)
c.3171+22G>A (n.3171+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180050_15180051delinsCTCA2324744210NOTCH3c.3327+21_3327+22delinsAG (n.3327+21_3327+22delinsAG)
c.3168+21_3168+22delinsAG (n.3168+21_3168+22delinsAG)
c.3171+21_3171+22delinsAG (n.3171+21_3171+22delinsAG)
19g.15180051delCA9263126NOTCH3c.3327+21del (n.3327+21del)
c.3168+21del (n.3168+21del)
c.3171+21del (n.3171+21del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180052C>GCA2583062735NOTCH3c.3327+20G>C (n.3327+20G>C)
c.3168+20G>C (n.3168+20G>C)
c.3171+20G>C (n.3171+20G>C)
 gnomAD v4
19g.15180053C>ACA2583062739NOTCH3c.3327+19G>T (n.3327+19G>T)
c.3168+19G>T (n.3168+19G>T)
c.3171+19G>T (n.3171+19G>T)
 gnomAD v4
19g.15180053C=CA2324744212NOTCH3c.3327+19G= (n.3327+19G=)
c.3168+19G= (n.3168+19G=)
c.3171+19G= (n.3171+19G=)
19g.15180053C>GCA783621581NOTCH3c.3327+19G>C (n.3327+19G>C)
c.3168+19G>C (n.3168+19G>C)
c.3171+19G>C (n.3171+19G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15180053C>TCA2583062737NOTCH3c.3327+19G>A (n.3327+19G>A)
c.3168+19G>A (n.3168+19G>A)
c.3171+19G>A (n.3171+19G>A)
 gnomAD v4
19g.15180054T>CCA2583062742NOTCH3c.3327+18A>G (n.3327+18A>G)
c.3168+18A>G (n.3168+18A>G)
c.3171+18A>G (n.3171+18A>G)
 gnomAD v4
19g.15180055G>ACA2583062743NOTCH3c.3327+17C>T (n.3327+17C>T)
c.3168+17C>T (n.3168+17C>T)
c.3171+17C>T (n.3171+17C>T)
 gnomAD v4
19g.15180055G>CCA2741615197NOTCH3c.3327+17C>G (n.3327+17C>G)
c.3168+17C>G (n.3168+17C>G)
c.3171+17C>G (n.3171+17C>G)
19g.15180055G>TCA2583062744NOTCH3c.3327+17C>A (n.3327+17C>A)
c.3168+17C>A (n.3168+17C>A)
c.3171+17C>A (n.3171+17C>A)
 gnomAD v4
19g.15180058delCA2576654638NOTCH3c.3327+17del (n.3327+17del)
c.3168+17del (n.3168+17del)
c.3171+17del (n.3171+17del)
 gnomAD v4
19g.15180056G=CA2324744213NOTCH3c.3327+16C= (n.3327+16C=)
c.3168+16C= (n.3168+16C=)
c.3171+16C= (n.3171+16C=)
19g.15180056G>TCA783621582NOTCH3c.3327+16C>A (n.3327+16C>A)
c.3168+16C>A (n.3168+16C>A)
c.3171+16C>A (n.3171+16C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15180057G>ACA2583062749NOTCH3c.3327+15C>T (n.3327+15C>T)
c.3168+15C>T (n.3168+15C>T)
c.3171+15C>T (n.3171+15C>T)
 gnomAD v4
19g.15180057G>CCA631943814NOTCH3c.3327+15C>G (n.3327+15C>G)
c.3168+15C>G (n.3168+15C>G)
c.3171+15C>G (n.3171+15C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.15180057G=CA2324744214NOTCH3c.3327+15C= (n.3327+15C=)
c.3168+15C= (n.3168+15C=)
c.3171+15C= (n.3171+15C=)
19g.15180058G=CA2324744215NOTCH3c.3327+14C= (n.3327+14C=)
c.3168+14C= (n.3168+14C=)
c.3171+14C= (n.3171+14C=)
19g.15180058G>TCA2324744216NOTCH3c.3327+14C>A (n.3327+14C>A)
c.3168+14C>A (n.3168+14C>A)
c.3171+14C>A (n.3171+14C>A)
 dbSNP
19g.15180059A>TCA2735795010NOTCH3c.3327+13T>A (n.3327+13T>A)
c.3168+13T>A (n.3168+13T>A)
c.3171+13T>A (n.3171+13T>A)
 dbSNP
19g.15180060G>ACA2576654639NOTCH3c.3327+12C>T (n.3327+12C>T)
c.3168+12C>T (n.3168+12C>T)
c.3171+12C>T (n.3171+12C>T)
19g.15180060G=CA2324744217NOTCH3c.3327+12C= (n.3327+12C=)
c.3168+12C= (n.3168+12C=)
c.3171+12C= (n.3171+12C=)
19g.15180060G>TCA631943818NOTCH3c.3327+12C>A (n.3327+12C>A)
c.3168+12C>A (n.3168+12C>A)
c.3171+12C>A (n.3171+12C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.15180061C=CA2324744218NOTCH3c.3327+11G= (n.3327+11G=)
c.3168+11G= (n.3168+11G=)
c.3171+11G= (n.3171+11G=)
19g.15180061C>GCA2581974277NOTCH3c.3327+11G>C (n.3327+11G>C)
c.3168+11G>C (n.3168+11G>C)
c.3171+11G>C (n.3171+11G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15180061C>TCA9263128NOTCH3c.3327+11G>A (n.3327+11G>A)
c.3168+11G>A (n.3168+11G>A)
c.3171+11G>A (n.3171+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180062G>ACA9263129NOTCH3c.3327+10C>T (n.3327+10C>T)
c.3168+10C>T (n.3168+10C>T)
c.3171+10C>T (n.3171+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180062G>CCA2735622791NOTCH3c.3327+10C>G (n.3327+10C>G)
c.3168+10C>G (n.3168+10C>G)
c.3171+10C>G (n.3171+10C>G)
 dbSNP
19g.15180062G=CA2324744219NOTCH3c.3327+10C= (n.3327+10C=)
c.3168+10C= (n.3168+10C=)
c.3171+10C= (n.3171+10C=)
19g.15180062G>TCA2583062762NOTCH3c.3327+10C>A (n.3327+10C>A)
c.3168+10C>A (n.3168+10C>A)
c.3171+10C>A (n.3171+10C>A)
 gnomAD v4
19g.15180063C>TCA2576654642NOTCH3c.3327+9G>A (n.3327+9G>A)
c.3168+9G>A (n.3168+9G>A)
c.3171+9G>A (n.3171+9G>A)
19g.15180067delCA2576654641NOTCH3c.3327+9del (n.3327+9del)
c.3168+9del (n.3168+9del)
c.3171+9del (n.3171+9del)
 gnomAD v4
19g.15180064C>TCA2741615198NOTCH3c.3327+8G>A (n.3327+8G>A)
c.3168+8G>A (n.3168+8G>A)
c.3171+8G>A (n.3171+8G>A)
19g.15180065C>ACA2583062770NOTCH3c.3327+7G>T (n.3327+7G>T)
c.3168+7G>T (n.3168+7G>T)
c.3171+7G>T (n.3171+7G>T)
 gnomAD v4
19g.15180065C=CA2324744220NOTCH3c.3327+7G= (n.3327+7G=)
c.3168+7G= (n.3168+7G=)
c.3171+7G= (n.3171+7G=)
19g.15180065C>GCA9263130NOTCH3c.3327+7G>C (n.3327+7G>C)
c.3168+7G>C (n.3168+7G>C)
c.3171+7G>C (n.3171+7G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180065C>TCA2583062768NOTCH3c.3327+7G>A (n.3327+7G>A)
c.3168+7G>A (n.3168+7G>A)
c.3171+7G>A (n.3171+7G>A)
 gnomAD v4
19g.15180066C=CA2324744221NOTCH3c.3327+6G= (n.3327+6G=)
c.3168+6G= (n.3168+6G=)
c.3171+6G= (n.3171+6G=)
19g.15180066C>GCA305769919NOTCH3c.3327+6G>C (n.3327+6G>C)
c.3168+6G>C (n.3168+6G>C)
c.3171+6G>C (n.3171+6G>C)
 dbSNP gnomAD v4
19g.15180067C>TCA2813714770NOTCH3c.3327+5G>A (n.3327+5G>A)
c.3168+5G>A (n.3168+5G>A)
c.3171+5G>A (n.3171+5G>A)
19g.15180070A>CCA404512788NOTCH3c.3327+2T>G (n.3327+2T>G)
c.3168+2T>G (n.3168+2T>G)
c.3171+2T>G (n.3171+2T>G)
 gnomAD v4
19g.15180070A>GCA404512786NOTCH3c.3327+2T>C (n.3327+2T>C)
c.3168+2T>C (n.3168+2T>C)
c.3171+2T>C (n.3171+2T>C)
19g.15180070A>TCA404512790NOTCH3c.3327+2T>A (n.3327+2T>A)
c.3168+2T>A (n.3168+2T>A)
c.3171+2T>A (n.3171+2T>A)
19g.15180071C>ACA404512792NOTCH3c.3327+1G>T (n.3327+1G>T)
c.3168+1G>T (n.3168+1G>T)
c.3171+1G>T (n.3171+1G>T)
19g.15180071C>GCA404512811NOTCH3c.3327+1G>C (n.3327+1G>C)
c.3168+1G>C (n.3168+1G>C)
c.3171+1G>C (n.3171+1G>C)
19g.15180071C>TCA404512795NOTCH3c.3327+1G>A (n.3327+1G>A)
c.3168+1G>A (n.3168+1G>A)
c.3171+1G>A (n.3171+1G>A)
 gnomAD v4
19g.15180072C>ACA404512814NOTCH3c.3327G>T (p.Glu1109Asp)
c.3168G>T (p.Glu1056Asp)
c.3171G>T (p.Glu1057Asp)
19g.15180072C>GCA404512817NOTCH3c.3327G>C (p.Glu1109Asp)
c.3168G>C (p.Glu1056Asp)
c.3171G>C (p.Glu1057Asp)
19g.15180072C>TCA505823480NOTCH3c.3327G>A (p.Glu1109=)
c.3168G>A (p.Glu1056=)
c.3171G>A (p.Glu1057=)
 gnomAD v4
19g.15180073T>ACA404512820NOTCH3c.3326A>T (p.Glu1109Val)
c.3167A>T (p.Glu1056Val)
c.3170A>T (p.Glu1057Val)
19g.15180073T>CCA404512823NOTCH3c.3326A>G (p.Glu1109Gly)
c.3167A>G (p.Glu1056Gly)
c.3170A>G (p.Glu1057Gly)
 dbSNP
19g.15180073T>GCA404512826NOTCH3c.3326A>C (p.Glu1109Ala)
c.3167A>C (p.Glu1056Ala)
c.3170A>C (p.Glu1057Ala)
19g.15180074C>ACA404512831NOTCH3c.3325G>T (p.Glu1109Ter)
c.3166G>T (p.Glu1056Ter)
c.3169G>T (p.Glu1057Ter)
19g.15180074C>GCA404512833NOTCH3c.3325G>C (p.Glu1109Gln)
c.3166G>C (p.Glu1056Gln)
c.3169G>C (p.Glu1057Gln)
19g.15180074C>TCA404512836NOTCH3c.3325G>A (p.Glu1109Lys)
c.3166G>A (p.Glu1056Lys)
c.3169G>A (p.Glu1057Lys)
19g.15180075A>CCA404512839NOTCH3c.3324T>G (p.Cys1108Trp)
c.3165T>G (p.Cys1055Trp)
c.3168T>G (p.Cys1056Trp)
19g.15180075A>GCA505823495NOTCH3c.3324T>C (p.Cys1108=)
c.3165T>C (p.Cys1055=)
c.3168T>C (p.Cys1056=)
19g.15180075A>TCA404512840NOTCH3c.3324T>A (p.Cys1108Ter)
c.3165T>A (p.Cys1055Ter)
c.3168T>A (p.Cys1056Ter)
 gnomAD v4
19g.15180076C>ACA404512844NOTCH3c.3323G>T (p.Cys1108Phe)
c.3164G>T (p.Cys1055Phe)
c.3167G>T (p.Cys1056Phe)
19g.15180076C>GCA404512846NOTCH3c.3323G>C (p.Cys1108Ser)
c.3164G>C (p.Cys1055Ser)
c.3167G>C (p.Cys1056Ser)
19g.15180076C>TCA404512849NOTCH3c.3323G>A (p.Cys1108Tyr)
c.3164G>A (p.Cys1055Tyr)
c.3167G>A (p.Cys1056Tyr)
19g.15180077A>CCA404512852NOTCH3c.3322T>G (p.Cys1108Gly)
c.3163T>G (p.Cys1055Gly)
c.3166T>G (p.Cys1056Gly)
19g.15180077A>GCA404512856NOTCH3c.3322T>C (p.Cys1108Arg)
c.3163T>C (p.Cys1055Arg)
c.3166T>C (p.Cys1056Arg)
 gnomAD v4
19g.15180077A>TCA404512854NOTCH3c.3322T>A (p.Cys1108Ser)
c.3163T>A (p.Cys1055Ser)
c.3166T>A (p.Cys1056Ser)
19g.15180078C>ACA9263131NOTCH3c.3321G>T (p.Met1107Ile)
c.3162G>T (p.Met1054Ile)
c.3165G>T (p.Met1055Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180078C=CA2324744222NOTCH3c.3321G= (p.Met1107=)
c.3162G= (p.Met1054=)
c.3165G= (p.Met1055=)
19g.15180078C>GCA404512862NOTCH3c.3321G>C (p.Met1107Ile)
c.3162G>C (p.Met1054Ile)
c.3165G>C (p.Met1055Ile)
19g.15180078C>TCA404512867NOTCH3c.3321G>A (p.Met1107Ile)
c.3162G>A (p.Met1054Ile)
c.3165G>A (p.Met1055Ile)
19g.15180079A=CA2324744223NOTCH3c.3320T= (p.Met1107=)
c.3161T= (p.Met1054=)
c.3164T= (p.Met1055=)
19g.15180079A>CCA404512873NOTCH3c.3320T>G (p.Met1107Arg)
c.3161T>G (p.Met1054Arg)
c.3164T>G (p.Met1055Arg)
 dbSNP
19g.15180079A>GCA404512877NOTCH3c.3320T>C (p.Met1107Thr)
c.3161T>C (p.Met1054Thr)
c.3164T>C (p.Met1055Thr)
 dbSNP
19g.15180079A>TCA404512879NOTCH3c.3320T>A (p.Met1107Lys)
c.3161T>A (p.Met1054Lys)
c.3164T>A (p.Met1055Lys)
19g.15180080T>ACA404512881NOTCH3c.3319A>T (p.Met1107Leu)
c.3160A>T (p.Met1054Leu)
c.3163A>T (p.Met1055Leu)
19g.15180080T>CCA404512884NOTCH3c.3319A>G (p.Met1107Val)
c.3160A>G (p.Met1054Val)
c.3163A>G (p.Met1055Val)
19g.15180080T>GCA404512887NOTCH3c.3319A>C (p.Met1107Leu)
c.3160A>C (p.Met1054Leu)
c.3163A>C (p.Met1055Leu)
 gnomAD v4
19g.15180081G>ACA305769920NOTCH3c.3318C>T (p.Tyr1106=)
c.3159C>T (p.Tyr1053=)
c.3162C>T (p.Tyr1054=)
 ClinVar dbSNP gnomAD v4
19g.15180081G>CCA404512896NOTCH3c.3318C>G (p.Tyr1106Ter)
c.3159C>G (p.Tyr1053Ter)
c.3162C>G (p.Tyr1054Ter)
19g.15180081G=CA2324744224NOTCH3c.3318C= (p.Tyr1106=)
c.3159C= (p.Tyr1053=)
c.3162C= (p.Tyr1054=)
19g.15180081G>TCA404512892NOTCH3c.3318C>A (p.Tyr1106Ter)
c.3159C>A (p.Tyr1053Ter)
c.3162C>A (p.Tyr1054Ter)
19g.15180082T>ACA404512902NOTCH3c.3317A>T (p.Tyr1106Phe)
c.3158A>T (p.Tyr1053Phe)
c.3161A>T (p.Tyr1054Phe)
 dbSNP
19g.15180082T>CCA404512905NOTCH3c.3317A>G (p.Tyr1106Cys)
c.3158A>G (p.Tyr1053Cys)
c.3161A>G (p.Tyr1054Cys)
19g.15180082T>GCA404512907NOTCH3c.3317A>C (p.Tyr1106Ser)
c.3158A>C (p.Tyr1053Ser)
c.3161A>C (p.Tyr1054Ser)
19g.15180083delCA2576654643NOTCH3c.3316del (p.Tyr1106ThrfsTer?)
c.3157del (p.Tyr1053ThrfsTer?)
c.3160del (p.Tyr1054ThrfsTer?)
19g.15180083A=CA2324744225NOTCH3c.3316T= (p.Tyr1106=)
c.3157T= (p.Tyr1053=)
c.3160T= (p.Tyr1054=)
19g.15180083A>CCA404512910NOTCH3c.3316T>G (p.Tyr1106Asp)
c.3157T>G (p.Tyr1053Asp)
c.3160T>G (p.Tyr1054Asp)
19g.15180083A>GCA9263132NOTCH3c.3316T>C (p.Tyr1106His)
c.3157T>C (p.Tyr1053His)
c.3160T>C (p.Tyr1054His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180083A>TCA404512915NOTCH3c.3316T>A (p.Tyr1106Asn)
c.3157T>A (p.Tyr1053Asn)
c.3160T>A (p.Tyr1054Asn)
19g.15180084G>ACA505824169NOTCH3c.3315C>T (p.Gly1105=)
c.3156C>T (p.Gly1052=)
c.3159C>T (p.Gly1053=)
 gnomAD v4
19g.15180084G>CCA505824170NOTCH3c.3315C>G (p.Gly1105=)
c.3156C>G (p.Gly1052=)
c.3159C>G (p.Gly1053=)
19g.15180084G>TCA505824172NOTCH3c.3315C>A (p.Gly1105=)
c.3156C>A (p.Gly1052=)
c.3159C>A (p.Gly1053=)
19g.15180084_15180085delinsGCCA2324744226NOTCH3c.3314_3315delinsGC (p.Gly1105=)
c.3155_3156delinsGC (p.Gly1052=)
c.3158_3159delinsGC (p.Gly1053=)
19g.15180085C>ACA404512918NOTCH3c.3314G>T (p.Gly1105Val)
c.3155G>T (p.Gly1052Val)
c.3158G>T (p.Gly1053Val)
19g.15180085C=CA2324744227NOTCH3c.3314G= (p.Gly1105=)
c.3155G= (p.Gly1052=)
c.3158G= (p.Gly1053=)
19g.15180085C>GCA9263133NOTCH3c.3314G>C (p.Gly1105Ala)
c.3155G>C (p.Gly1052Ala)
c.3158G>C (p.Gly1053Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180085C>TCA404512921NOTCH3c.3314G>A (p.Gly1105Asp)
c.3155G>A (p.Gly1052Asp)
c.3158G>A (p.Gly1053Asp)
 dbSNP
19g.15180090dupCA2583062771NOTCH3c.3314dup (p.Tyr1106LeufsTer4)
c.3155dup (p.Tyr1053LeufsTer4)
c.3158dup (p.Tyr1054LeufsTer4)
 gnomAD v4
19g.15180090delCA645600796NOTCH3c.3314del (p.Gly1105AlafsTer?)
c.3155del (p.Gly1052AlafsTer?)
c.3158del (p.Gly1053AlafsTer?)
 dbSNP COSMIC COSMIC
19g.15180086C>ACA404512926NOTCH3c.3313G>T (p.Gly1105Cys)
c.3154G>T (p.Gly1052Cys)
c.3157G>T (p.Gly1053Cys)
19g.15180086C=CA2324744228NOTCH3c.3313G= (p.Gly1105=)
c.3154G= (p.Gly1052=)
c.3157G= (p.Gly1053=)
19g.15180086C>GCA404512927NOTCH3c.3313G>C (p.Gly1105Arg)
c.3154G>C (p.Gly1052Arg)
c.3157G>C (p.Gly1053Arg)
19g.15180086C>TCA404512928NOTCH3c.3313G>A (p.Gly1105Ser)
c.3154G>A (p.Gly1052Ser)
c.3157G>A (p.Gly1053Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.15180087C>ACA505824178NOTCH3c.3312G>T (p.Gly1104=)
c.3153G>T (p.Gly1051=)
c.3156G>T (p.Gly1052=)
19g.15180087C=CA2324744229NOTCH3c.3312G= (p.Gly1104=)
c.3153G= (p.Gly1051=)
c.3156G= (p.Gly1052=)
19g.15180087C>GCA505824179NOTCH3c.3312G>C (p.Gly1104=)
c.3153G>C (p.Gly1051=)
c.3156G>C (p.Gly1052=)
19g.15180087C>TCA505824180NOTCH3c.3312G>A (p.Gly1104=)
c.3153G>A (p.Gly1051=)
c.3156G>A (p.Gly1052=)
 dbSNP gnomAD v4
19g.15180088C>ACA404512934NOTCH3c.3311G>T (p.Gly1104Val)
c.3152G>T (p.Gly1051Val)
c.3155G>T (p.Gly1052Val)
19g.15180088C=CA2324744230NOTCH3c.3311G= (p.Gly1104=)
c.3152G= (p.Gly1051=)
c.3155G= (p.Gly1052=)
19g.15180088C>GCA404512929NOTCH3c.3311G>C (p.Gly1104Ala)
c.3152G>C (p.Gly1051Ala)
c.3155G>C (p.Gly1052Ala)
19g.15180088C>TCA9263134NOTCH3c.3311G>A (p.Gly1104Glu)
c.3152G>A (p.Gly1051Glu)
c.3155G>A (p.Gly1052Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180089C>ACA404512939NOTCH3c.3310G>T (p.Gly1104Trp)
c.3151G>T (p.Gly1051Trp)
c.3154G>T (p.Gly1052Trp)
 COSMIC
19g.15180089C>GCA404512941NOTCH3c.3310G>C (p.Gly1104Arg)
c.3151G>C (p.Gly1051Arg)
c.3154G>C (p.Gly1052Arg)
19g.15180089C>TCA404512950NOTCH3c.3310G>A (p.Gly1104Arg)
c.3151G>A (p.Gly1051Arg)
c.3154G>A (p.Gly1052Arg)
19g.15180090C>ACA404512953NOTCH3c.3309G>T (p.Met1103Ile)
c.3150G>T (p.Met1050Ile)
c.3153G>T (p.Met1051Ile)
 COSMIC COSMIC
19g.15180090C=CA2324744231NOTCH3c.3309G= (p.Met1103=)
c.3150G= (p.Met1050=)
c.3153G= (p.Met1051=)
19g.15180090C>GCA404512957NOTCH3c.3309G>C (p.Met1103Ile)
c.3150G>C (p.Met1050Ile)
c.3153G>C (p.Met1051Ile)
19g.15180090C>TCA404512961NOTCH3c.3309G>A (p.Met1103Ile)
c.3150G>A (p.Met1050Ile)
c.3153G>A (p.Met1051Ile)
 ClinVar dbSNP gnomAD v4
19g.15180091A=CA2324744232NOTCH3c.3308T= (p.Met1103=)
c.3149T= (p.Met1050=)
c.3152T= (p.Met1051=)
19g.15180091A>CCA404512964NOTCH3c.3308T>G (p.Met1103Arg)
c.3149T>G (p.Met1050Arg)
c.3152T>G (p.Met1051Arg)
19g.15180091A>GCA9263135NOTCH3c.3308T>C (p.Met1103Thr)
c.3149T>C (p.Met1050Thr)
c.3152T>C (p.Met1051Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180091A>TCA404512968NOTCH3c.3308T>A (p.Met1103Lys)
c.3149T>A (p.Met1050Lys)
c.3152T>A (p.Met1051Lys)
19g.15180092T>ACA404512973NOTCH3c.3307A>T (p.Met1103Leu)
c.3148A>T (p.Met1050Leu)
c.3151A>T (p.Met1051Leu)
 dbSNP
19g.15180092T>CCA9263136NOTCH3c.3307A>G (p.Met1103Val)
c.3148A>G (p.Met1050Val)
c.3151A>G (p.Met1051Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180092T>GCA404512976NOTCH3c.3307A>C (p.Met1103Leu)
c.3148A>C (p.Met1050Leu)
c.3151A>C (p.Met1051Leu)
19g.15180092T=CA2324744233NOTCH3c.3307A= (p.Met1103=)
c.3148A= (p.Met1050=)
c.3151A= (p.Met1051=)
19g.15180093A>CCA404512978NOTCH3c.3306T>G (p.Tyr1102Ter)
c.3147T>G (p.Tyr1049Ter)
c.3150T>G (p.Tyr1050Ter)
19g.15180093A>GCA505824183NOTCH3c.3306T>C (p.Tyr1102=)
c.3147T>C (p.Tyr1049=)
c.3150T>C (p.Tyr1050=)
19g.15180093A>TCA404512979NOTCH3c.3306T>A (p.Tyr1102Ter)
c.3147T>A (p.Tyr1049Ter)
c.3150T>A (p.Tyr1050Ter)
19g.15180094T>ACA9263137NOTCH3c.3305A>T (p.Tyr1102Phe)
c.3146A>T (p.Tyr1049Phe)
c.3149A>T (p.Tyr1050Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180094T>CCA404512986NOTCH3c.3305A>G (p.Tyr1102Cys)
c.3146A>G (p.Tyr1049Cys)
c.3149A>G (p.Tyr1050Cys)
 gnomAD v4
19g.15180094T>GCA404512982NOTCH3c.3305A>C (p.Tyr1102Ser)
c.3146A>C (p.Tyr1049Ser)
c.3149A>C (p.Tyr1050Ser)
19g.15180094T=CA2324744234NOTCH3c.3305A= (p.Tyr1102=)
c.3146A= (p.Tyr1049=)
c.3149A= (p.Tyr1050=)
19g.15180095A>CCA404512989NOTCH3c.3304T>G (p.Tyr1102Asp)
c.3145T>G (p.Tyr1049Asp)
c.3148T>G (p.Tyr1050Asp)
19g.15180095A>GCA404512992NOTCH3c.3304T>C (p.Tyr1102His)
c.3145T>C (p.Tyr1049His)
c.3148T>C (p.Tyr1050His)
 gnomAD v4
19g.15180095A>TCA404512993NOTCH3c.3304T>A (p.Tyr1102Asn)
c.3145T>A (p.Tyr1049Asn)
c.3148T>A (p.Tyr1050Asn)
 dbSNP
19g.15180096G>ACA505824191NOTCH3c.3303C>T (p.Gly1101=)
c.3144C>T (p.Gly1048=)
c.3147C>T (p.Gly1049=)
19g.15180096G>CCA505824192NOTCH3c.3303C>G (p.Gly1101=)
c.3144C>G (p.Gly1048=)
c.3147C>G (p.Gly1049=)
 gnomAD v4
19g.15180096G>TCA505824194NOTCH3c.3303C>A (p.Gly1101=)
c.3144C>A (p.Gly1048=)
c.3147C>A (p.Gly1049=)
19g.15180097C>ACA404512998NOTCH3c.3302G>T (p.Gly1101Val)
c.3143G>T (p.Gly1048Val)
c.3146G>T (p.Gly1049Val)
19g.15180097C>GCA404513000NOTCH3c.3302G>C (p.Gly1101Ala)
c.3143G>C (p.Gly1048Ala)
c.3146G>C (p.Gly1049Ala)
19g.15180097C>TCA404513001NOTCH3c.3302G>A (p.Gly1101Asp)
c.3143G>A (p.Gly1048Asp)
c.3146G>A (p.Gly1049Asp)
 dbSNP gnomAD v4
19g.15180098C>ACA404513002NOTCH3c.3301G>T (p.Gly1101Cys)
c.3142G>T (p.Gly1048Cys)
c.3145G>T (p.Gly1049Cys)
 gnomAD v4
19g.15180098C=CA2324744235NOTCH3c.3301G= (p.Gly1101=)
c.3142G= (p.Gly1048=)
c.3145G= (p.Gly1049=)
19g.15180098C>GCA404513003NOTCH3c.3301G>C (p.Gly1101Arg)
c.3142G>C (p.Gly1048Arg)
c.3145G>C (p.Gly1049Arg)
19g.15180098C>TCA404513005NOTCH3c.3301G>A (p.Gly1101Ser)
c.3142G>A (p.Gly1048Ser)
c.3145G>A (p.Gly1049Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.15180099A>CCA505824201NOTCH3c.3300T>G (p.Arg1100=)
c.3141T>G (p.Arg1047=)
c.3144T>G (p.Arg1048=)
19g.15180099A>GCA505824199NOTCH3c.3300T>C (p.Arg1100=)
c.3141T>C (p.Arg1047=)
c.3144T>C (p.Arg1048=)
19g.15180099A>TCA505824204NOTCH3c.3300T>A (p.Arg1100=)
c.3141T>A (p.Arg1047=)
c.3144T>A (p.Arg1048=)
19g.15180100C>ACA404513007NOTCH3c.3299G>T (p.Arg1100Leu)
c.3140G>T (p.Arg1047Leu)
c.3143G>T (p.Arg1048Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.15180100C=CA2324744236NOTCH3c.3299G= (p.Arg1100=)
c.3140G= (p.Arg1047=)
c.3143G= (p.Arg1048=)
19g.15180100C>GCA404513010NOTCH3c.3299G>C (p.Arg1100Pro)
c.3140G>C (p.Arg1047Pro)
c.3143G>C (p.Arg1048Pro)
 gnomAD v4
19g.15180100C>TCA9263138NOTCH3c.3299G>A (p.Arg1100His)
c.3140G>A (p.Arg1047His)
c.3143G>A (p.Arg1048His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15180101G>ACA305769949NOTCH3c.3298C>T (p.Arg1100Cys)
c.3139C>T (p.Arg1047Cys)
c.3142C>T (p.Arg1048Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15180101G>CCA404513018NOTCH3c.3298C>G (p.Arg1100Gly)
c.3139C>G (p.Arg1047Gly)
c.3142C>G (p.Arg1048Gly)
 dbSNP
19g.15180101G=CA2324744237NOTCH3c.3298C= (p.Arg1100=)
c.3139C= (p.Arg1047=)
c.3142C= (p.Arg1048=)
19g.15180101G>TCA404513014NOTCH3c.3298C>A (p.Arg1100Ser)
c.3139C>A (p.Arg1047Ser)
c.3142C>A (p.Arg1048Ser)
19g.15180102G>ACA505824208NOTCH3c.3297C>T (p.Cys1099=)
c.3138C>T (p.Cys1046=)
c.3141C>T (p.Cys1047=)
 dbSNP
19g.15180102G>CCA404513025NOTCH3c.3297C>G (p.Cys1099Trp)
c.3138C>G (p.Cys1046Trp)
c.3141C>G (p.Cys1047Trp)
19g.15180102G>TCA404513028NOTCH3c.3297C>A (p.Cys1099Ter)
c.3138C>A (p.Cys1046Ter)
c.3141C>A (p.Cys1047Ter)
19g.15180103C>ACA404513031NOTCH3c.3296G>T (p.Cys1099Phe)
c.3137G>T (p.Cys1046Phe)
c.3140G>T (p.Cys1047Phe)
19g.15180103C=CA2324744238NOTCH3c.3296G= (p.Cys1099=)
c.3137G= (p.Cys1046=)
c.3140G= (p.Cys1047=)
19g.15180103C>GCA404513033NOTCH3c.3296G>C (p.Cys1099Ser)
c.3137G>C (p.Cys1046Ser)
c.3140G>C (p.Cys1047Ser)
19g.15180103C>TCA404513034NOTCH3c.3296G>A (p.Cys1099Tyr)
c.3137G>A (p.Cys1046Tyr)
c.3140G>A (p.Cys1047Tyr)
 ClinVar dbSNP gnomAD v4
19g.15180104A>CCA404513035NOTCH3c.3295T>G (p.Cys1099Gly)
c.3136T>G (p.Cys1046Gly)
c.3139T>G (p.Cys1047Gly)
19g.15180104A>GCA404513037NOTCH3c.3295T>C (p.Cys1099Arg)
c.3136T>C (p.Cys1046Arg)
c.3139T>C (p.Cys1047Arg)
19g.15180104A>TCA404513042NOTCH3c.3295T>A (p.Cys1099Ser)
c.3136T>A (p.Cys1046Ser)
c.3139T>A (p.Cys1047Ser)
19g.15180105G>ACA505824215NOTCH3c.3294C>T (p.Thr1098=)
c.3135C>T (p.Thr1045=)
c.3138C>T (p.Thr1046=)
19g.15180105G>CCA505824211NOTCH3c.3294C>G (p.Thr1098=)
c.3135C>G (p.Thr1045=)
c.3138C>G (p.Thr1046=)
19g.15180105G=CA2324744239NOTCH3c.3294C= (p.Thr1098=)
c.3135C= (p.Thr1045=)
c.3138C= (p.Thr1046=)
19g.15180105G>TCA9263139NOTCH3c.3294C>A (p.Thr1098=)
c.3135C>A (p.Thr1045=)
c.3138C>A (p.Thr1046=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180106G>ACA404513045NOTCH3c.3293C>T (p.Thr1098Ile)
c.3134C>T (p.Thr1045Ile)
c.3137C>T (p.Thr1046Ile)
 gnomAD v4
19g.15180106G>CCA404513049NOTCH3c.3293C>G (p.Thr1098Ser)
c.3134C>G (p.Thr1045Ser)
c.3137C>G (p.Thr1046Ser)
 dbSNP
19g.15180106G=CA2324744240NOTCH3c.3293C= (p.Thr1098=)
c.3134C= (p.Thr1045=)
c.3137C= (p.Thr1046=)
19g.15180106G>TCA9263140NOTCH3c.3293C>A (p.Thr1098Asn)
c.3134C>A (p.Thr1045Asn)
c.3137C>A (p.Thr1046Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180107T>ACA404513053NOTCH3c.3292A>T (p.Thr1098Ser)
c.3133A>T (p.Thr1045Ser)
c.3136A>T (p.Thr1046Ser)
 dbSNP
19g.15180107T>CCA404513057NOTCH3c.3292A>G (p.Thr1098Ala)
c.3133A>G (p.Thr1045Ala)
c.3136A>G (p.Thr1046Ala)
19g.15180107T>GCA404513058NOTCH3c.3292A>C (p.Thr1098Pro)
c.3133A>C (p.Thr1045Pro)
c.3136A>C (p.Thr1046Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.15180107T=CA2324744241NOTCH3c.3292A= (p.Thr1098=)
c.3133A= (p.Thr1045=)
c.3136A= (p.Thr1046=)
19g.15180108C>ACA9263141NOTCH3c.3291G>T (p.Gly1097=)
c.3132G>T (p.Gly1044=)
c.3135G>T (p.Gly1045=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180108C=CA2324744242NOTCH3c.3291G= (p.Gly1097=)
c.3132G= (p.Gly1044=)
c.3135G= (p.Gly1045=)
19g.15180108C>GCA505824222NOTCH3c.3291G>C (p.Gly1097=)
c.3132G>C (p.Gly1044=)
c.3135G>C (p.Gly1045=)
19g.15180108C>TCA505824223NOTCH3c.3291G>A (p.Gly1097=)
c.3132G>A (p.Gly1044=)
c.3135G>A (p.Gly1045=)
19g.15180113dupCA2813714774NOTCH3c.3291dup (p.Thr1098AspfsTer12)
c.3132dup (p.Thr1045AspfsTer12)
c.3135dup (p.Thr1046AspfsTer12)
19g.15180113delCA505824225NOTCH3c.3291del (p.Thr1098ProfsTer?)
c.3132del (p.Thr1045ProfsTer?)
c.3135del (p.Thr1046ProfsTer?)
 COSMIC COSMIC
19g.15180109C>ACA404513063NOTCH3c.3290G>T (p.Gly1097Val)
c.3131G>T (p.Gly1044Val)
c.3134G>T (p.Gly1045Val)
19g.15180109C>GCA404513066NOTCH3c.3290G>C (p.Gly1097Ala)
c.3131G>C (p.Gly1044Ala)
c.3134G>C (p.Gly1045Ala)
19g.15180109C>TCA404513070NOTCH3c.3290G>A (p.Gly1097Glu)
c.3131G>A (p.Gly1044Glu)
c.3134G>A (p.Gly1045Glu)
19g.15180110C>ACA404513073NOTCH3c.3289G>T (p.Gly1097Trp)
c.3130G>T (p.Gly1044Trp)
c.3133G>T (p.Gly1045Trp)
19g.15180110C=CA2324744243NOTCH3c.3289G= (p.Gly1097=)
c.3130G= (p.Gly1044=)
c.3133G= (p.Gly1045=)
19g.15180110C>GCA404513075NOTCH3c.3289G>C (p.Gly1097Arg)
c.3130G>C (p.Gly1044Arg)
c.3133G>C (p.Gly1045Arg)
19g.15180110C>TCA9263142NOTCH3c.3289G>A (p.Gly1097Arg)
c.3130G>A (p.Gly1044Arg)
c.3133G>A (p.Gly1045Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180111C>ACA505824230NOTCH3c.3288G>T (p.Gly1096=)
c.3129G>T (p.Gly1043=)
c.3132G>T (p.Gly1044=)
 COSMIC COSMIC
19g.15180111C>GCA505824232NOTCH3c.3288G>C (p.Gly1096=)
c.3129G>C (p.Gly1043=)
c.3132G>C (p.Gly1044=)
19g.15180111C>TCA505824234NOTCH3c.3288G>A (p.Gly1096=)
c.3129G>A (p.Gly1043=)
c.3132G>A (p.Gly1044=)
19g.15180112C>ACA9263143NOTCH3c.3287G>T (p.Gly1096Val)
c.3128G>T (p.Gly1043Val)
c.3131G>T (p.Gly1044Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180112C=CA2324744244NOTCH3c.3287G= (p.Gly1096=)
c.3128G= (p.Gly1043=)
c.3131G= (p.Gly1044=)
19g.15180112C>GCA404513082NOTCH3c.3287G>C (p.Gly1096Ala)
c.3128G>C (p.Gly1043Ala)
c.3131G>C (p.Gly1044Ala)
19g.15180112C>TCA404513085NOTCH3c.3287G>A (p.Gly1096Glu)
c.3128G>A (p.Gly1043Glu)
c.3131G>A (p.Gly1044Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.15180113C>ACA404513092NOTCH3c.3286G>T (p.Gly1096Trp)
c.3127G>T (p.Gly1043Trp)
c.3130G>T (p.Gly1044Trp)
19g.15180113C=CA2324744245NOTCH3c.3286G= (p.Gly1096=)
c.3127G= (p.Gly1043=)
c.3130G= (p.Gly1044=)
19g.15180113C>GCA404513089NOTCH3c.3286G>C (p.Gly1096Arg)
c.3127G>C (p.Gly1043Arg)
c.3130G>C (p.Gly1044Arg)
19g.15180113C>TCA404513088NOTCH3c.3286G>A (p.Gly1096Arg)
c.3127G>A (p.Gly1043Arg)
c.3130G>A (p.Gly1044Arg)
 dbSNP gnomAD v4
19g.15180114A=CA2324744246NOTCH3c.3285T= (p.His1095=)
c.3126T= (p.His1042=)
c.3129T= (p.His1043=)
19g.15180114A>CCA404513094NOTCH3c.3285T>G (p.His1095Gln)
c.3126T>G (p.His1042Gln)
c.3129T>G (p.His1043Gln)
19g.15180114A>GCA505824236NOTCH3c.3285T>C (p.His1095=)
c.3126T>C (p.His1042=)
c.3129T>C (p.His1043=)
 dbSNP
19g.15180114A>TCA9263144NOTCH3c.3285T>A (p.His1095Gln)
c.3126T>A (p.His1042Gln)
c.3129T>A (p.His1043Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15180115T>ACA404513097NOTCH3c.3284A>T (p.His1095Leu)
c.3125A>T (p.His1042Leu)
c.3128A>T (p.His1043Leu)
19g.15180115T>CCA404513099NOTCH3c.3284A>G (p.His1095Arg)
c.3125A>G (p.His1042Arg)
c.3128A>G (p.His1043Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.15180115T>GCA404513100NOTCH3c.3284A>C (p.His1095Pro)
c.3125A>C (p.His1042Pro)
c.3128A>C (p.His1043Pro)
19g.15180115T=CA2324744247NOTCH3c.3284A= (p.His1095=)
c.3125A= (p.His1042=)
c.3128A= (p.His1043=)
19g.15180116G>ACA404513103NOTCH3c.3283C>T (p.His1095Tyr)
c.3124C>T (p.His1042Tyr)
c.3127C>T (p.His1043Tyr)
19g.15180116G>CCA404513106NOTCH3c.3283C>G (p.His1095Asp)
c.3124C>G (p.His1042Asp)
c.3127C>G (p.His1043Asp)
19g.15180116G>TCA404513109NOTCH3c.3283C>A (p.His1095Asn)
c.3124C>A (p.His1042Asn)
c.3127C>A (p.His1043Asn)
19g.15180117C>ACA404513122NOTCH3c.3282G>T (p.Gln1094His)
c.3123G>T (p.Gln1041His)
c.3126G>T (p.Gln1042His)
 dbSNP
19g.15180117C=CA2324744248NOTCH3c.3282G= (p.Gln1094=)
c.3123G= (p.Gln1041=)
c.3126G= (p.Gln1042=)
19g.15180117C>GCA404513124NOTCH3c.3282G>C (p.Gln1094His)
c.3123G>C (p.Gln1041His)
c.3126G>C (p.Gln1042His)
19g.15180117C>TCA505824243NOTCH3c.3282G>A (p.Gln1094=)
c.3123G>A (p.Gln1041=)
c.3126G>A (p.Gln1042=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180118T>ACA404513127NOTCH3c.3281A>T (p.Gln1094Leu)
c.3122A>T (p.Gln1041Leu)
c.3125A>T (p.Gln1042Leu)
19g.15180118T>CCA404513130NOTCH3c.3281A>G (p.Gln1094Arg)
c.3122A>G (p.Gln1041Arg)
c.3125A>G (p.Gln1042Arg)
19g.15180118T>GCA404513133NOTCH3c.3281A>C (p.Gln1094Pro)
c.3122A>C (p.Gln1041Pro)
c.3125A>C (p.Gln1042Pro)
19g.15180119G>ACA404513142NOTCH3c.3280C>T (p.Gln1094Ter)
c.3121C>T (p.Gln1041Ter)
c.3124C>T (p.Gln1042Ter)
 dbSNP COSMIC COSMIC
19g.15180119G>CCA404513144NOTCH3c.3280C>G (p.Gln1094Glu)
c.3121C>G (p.Gln1041Glu)
c.3124C>G (p.Gln1042Glu)
19g.15180119G>TCA404513135NOTCH3c.3280C>A (p.Gln1094Lys)
c.3121C>A (p.Gln1041Lys)
c.3124C>A (p.Gln1042Lys)
19g.15180120G>ACA505824249NOTCH3c.3279C>T (p.Cys1093=)
c.3120C>T (p.Cys1040=)
c.3123C>T (p.Cys1041=)
 dbSNP
19g.15180120G>CCA404513146NOTCH3c.3279C>G (p.Cys1093Trp)
c.3120C>G (p.Cys1040Trp)
c.3123C>G (p.Cys1041Trp)
 dbSNP
19g.15180120G>TCA404513145NOTCH3c.3279C>A (p.Cys1093Ter)
c.3120C>A (p.Cys1040Ter)
c.3123C>A (p.Cys1041Ter)
19g.15180121C>ACA404513154NOTCH3c.3278G>T (p.Cys1093Phe)
c.3119G>T (p.Cys1040Phe)
c.3122G>T (p.Cys1041Phe)
19g.15180121C=CA2324744249NOTCH3c.3278G= (p.Cys1093=)
c.3119G= (p.Cys1040=)
c.3122G= (p.Cys1041=)
19g.15180121C>GCA404513149NOTCH3c.3278G>C (p.Cys1093Ser)
c.3119G>C (p.Cys1040Ser)
c.3122G>C (p.Cys1041Ser)
19g.15180121C>TCA404513152NOTCH3c.3278G>A (p.Cys1093Tyr)
c.3119G>A (p.Cys1040Tyr)
c.3122G>A (p.Cys1041Tyr)
 dbSNP gnomAD v2
19g.15180122A>CCA404513161NOTCH3c.3277T>G (p.Cys1093Gly)
c.3118T>G (p.Cys1040Gly)
c.3121T>G (p.Cys1041Gly)
19g.15180122A>GCA404513165NOTCH3c.3277T>C (p.Cys1093Arg)
c.3118T>C (p.Cys1040Arg)
c.3121T>C (p.Cys1041Arg)
19g.15180122A>TCA404513169NOTCH3c.3277T>A (p.Cys1093Ser)
c.3118T>A (p.Cys1040Ser)
c.3121T>A (p.Cys1041Ser)
19g.15180123G>ACA505824255NOTCH3c.3276C>T (p.Pro1092=)
c.3117C>T (p.Pro1039=)
c.3120C>T (p.Pro1040=)
 dbSNP
19g.15180123G>CCA9263145NOTCH3c.3276C>G (p.Pro1092=)
c.3117C>G (p.Pro1039=)
c.3120C>G (p.Pro1040=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15180123G=CA2324744250NOTCH3c.3276C= (p.Pro1092=)
c.3117C= (p.Pro1039=)
c.3120C= (p.Pro1040=)
19g.15180123G>TCA505824260NOTCH3c.3276C>A (p.Pro1092=)
c.3117C>A (p.Pro1039=)
c.3120C>A (p.Pro1040=)

Number of alleles fetched