Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15179995G>ACA2583062649NOTCH3c.3327+77C>T (n.3327+77C>T)
c.3168+77C>T (n.3168+77C>T)
c.3171+77C>T (n.3171+77C>T)
 gnomAD v4
19g.15179995G>CCA2813714764NOTCH3c.3327+77C>G (n.3327+77C>G)
c.3168+77C>G (n.3168+77C>G)
c.3171+77C>G (n.3171+77C>G)
19g.15179995G>TCA2576654624NOTCH3c.3327+77C>A (n.3327+77C>A)
c.3168+77C>A (n.3168+77C>A)
c.3171+77C>A (n.3171+77C>A)
 gnomAD v4
19g.15179996C>ACA2583062652NOTCH3c.3327+76G>T (n.3327+76G>T)
c.3168+76G>T (n.3168+76G>T)
c.3171+76G>T (n.3171+76G>T)
 gnomAD v4
19g.15179996C>GCA2576654626NOTCH3c.3327+76G>C (n.3327+76G>C)
c.3168+76G>C (n.3168+76G>C)
c.3171+76G>C (n.3171+76G>C)
19g.15179996C>TCA2583062651NOTCH3c.3327+76G>A (n.3327+76G>A)
c.3168+76G>A (n.3168+76G>A)
c.3171+76G>A (n.3171+76G>A)
 gnomAD v4
19g.15179997C>ACA2583062654NOTCH3c.3327+75G>T (n.3327+75G>T)
c.3168+75G>T (n.3168+75G>T)
c.3171+75G>T (n.3171+75G>T)
 gnomAD v4
19g.15179997C>TCA2583062655NOTCH3c.3327+75G>A (n.3327+75G>A)
c.3168+75G>A (n.3168+75G>A)
c.3171+75G>A (n.3171+75G>A)
 gnomAD v4
19g.15179998A=CA2324744183NOTCH3c.3327+74T= (n.3327+74T=)
c.3168+74T= (n.3168+74T=)
c.3171+74T= (n.3171+74T=)
19g.15179998A>CCA2583062656NOTCH3c.3327+74T>G (n.3327+74T>G)
c.3168+74T>G (n.3168+74T>G)
c.3171+74T>G (n.3171+74T>G)
 gnomAD v4
19g.15179998A>GCA2324744184NOTCH3c.3327+74T>C (n.3327+74T>C)
c.3168+74T>C (n.3168+74T>C)
c.3171+74T>C (n.3171+74T>C)
 dbSNP
19g.15179998A>TCA2583062657NOTCH3c.3327+74T>A (n.3327+74T>A)
c.3168+74T>A (n.3168+74T>A)
c.3171+74T>A (n.3171+74T>A)
 gnomAD v4
19g.15179999C>ACA2583062658NOTCH3c.3327+73G>T (n.3327+73G>T)
c.3168+73G>T (n.3168+73G>T)
c.3171+73G>T (n.3171+73G>T)
 gnomAD v4
19g.15180001C>ACA783621578NOTCH3c.3327+71G>T (n.3327+71G>T)
c.3168+71G>T (n.3168+71G>T)
c.3171+71G>T (n.3171+71G>T)
 dbSNP gnomAD v4
19g.15180001C=CA2324744185NOTCH3c.3327+71G= (n.3327+71G=)
c.3168+71G= (n.3168+71G=)
c.3171+71G= (n.3171+71G=)
19g.15180001C>GCA2583062659NOTCH3c.3327+71G>C (n.3327+71G>C)
c.3168+71G>C (n.3168+71G>C)
c.3171+71G>C (n.3171+71G>C)
 gnomAD v4
19g.15180001C>TCA2583062660NOTCH3c.3327+71G>A (n.3327+71G>A)
c.3168+71G>A (n.3168+71G>A)
c.3171+71G>A (n.3171+71G>A)
 gnomAD v4
19g.15180002A=CA2324744186NOTCH3c.3327+70T= (n.3327+70T=)
c.3168+70T= (n.3168+70T=)
c.3171+70T= (n.3171+70T=)
19g.15180002A>GCA631943784NOTCH3c.3327+70T>C (n.3327+70T>C)
c.3168+70T>C (n.3168+70T>C)
c.3171+70T>C (n.3171+70T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180003G>ACA2324744188NOTCH3c.3327+69C>T (n.3327+69C>T)
c.3168+69C>T (n.3168+69C>T)
c.3171+69C>T (n.3171+69C>T)
 dbSNP gnomAD v4
19g.15180003G=CA2324744187NOTCH3c.3327+69C= (n.3327+69C=)
c.3168+69C= (n.3168+69C=)
c.3171+69C= (n.3171+69C=)
19g.15180004A>TCA2583062661NOTCH3c.3327+68T>A (n.3327+68T>A)
c.3168+68T>A (n.3168+68T>A)
c.3171+68T>A (n.3171+68T>A)
 gnomAD v4
19g.15180005A>TCA2735794987NOTCH3c.3327+67T>A (n.3327+67T>A)
c.3168+67T>A (n.3168+67T>A)
c.3171+67T>A (n.3171+67T>A)
 dbSNP
19g.15180006A=CA2324744189NOTCH3c.3327+66T= (n.3327+66T=)
c.3168+66T= (n.3168+66T=)
c.3171+66T= (n.3171+66T=)
19g.15180006A>GCA305769891NOTCH3c.3327+66T>C (n.3327+66T>C)
c.3168+66T>C (n.3168+66T>C)
c.3171+66T>C (n.3171+66T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.15180008G>ACA2583062663NOTCH3c.3327+64C>T (n.3327+64C>T)
c.3168+64C>T (n.3168+64C>T)
c.3171+64C>T (n.3171+64C>T)
 gnomAD v4
19g.15180008G>CCA2583062664NOTCH3c.3327+64C>G (n.3327+64C>G)
c.3168+64C>G (n.3168+64C>G)
c.3171+64C>G (n.3171+64C>G)
 gnomAD v4
19g.15180008G>TCA2583062665NOTCH3c.3327+64C>A (n.3327+64C>A)
c.3168+64C>A (n.3168+64C>A)
c.3171+64C>A (n.3171+64C>A)
 gnomAD v4
19g.15180009T>ACA2583062666NOTCH3c.3327+63A>T (n.3327+63A>T)
c.3168+63A>T (n.3168+63A>T)
c.3171+63A>T (n.3171+63A>T)
 gnomAD v4
19g.15180010G>ACA2583062667NOTCH3c.3327+62C>T (n.3327+62C>T)
c.3168+62C>T (n.3168+62C>T)
c.3171+62C>T (n.3171+62C>T)
 gnomAD v4
19g.15180011T>ACA2583062669NOTCH3c.3327+61A>T (n.3327+61A>T)
c.3168+61A>T (n.3168+61A>T)
c.3171+61A>T (n.3171+61A>T)
 gnomAD v4
19g.15180011T>CCA2576654627NOTCH3c.3327+61A>G (n.3327+61A>G)
c.3168+61A>G (n.3168+61A>G)
c.3171+61A>G (n.3171+61A>G)
 gnomAD v4
19g.15180012G>ACA631943785NOTCH3c.3327+60C>T (n.3327+60C>T)
c.3168+60C>T (n.3168+60C>T)
c.3171+60C>T (n.3171+60C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180012G=CA2324744190NOTCH3c.3327+60C= (n.3327+60C=)
c.3168+60C= (n.3168+60C=)
c.3171+60C= (n.3171+60C=)
19g.15180012G>TCA783621579NOTCH3c.3327+60C>A (n.3327+60C>A)
c.3168+60C>A (n.3168+60C>A)
c.3171+60C>A (n.3171+60C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.15180013C>ACA2583062673NOTCH3c.3327+59G>T (n.3327+59G>T)
c.3168+59G>T (n.3168+59G>T)
c.3171+59G>T (n.3171+59G>T)
 gnomAD v4
19g.15180013C>TCA2583062675NOTCH3c.3327+59G>A (n.3327+59G>A)
c.3168+59G>A (n.3168+59G>A)
c.3171+59G>A (n.3171+59G>A)
 gnomAD v4
19g.15180015delCA2583062671NOTCH3c.3327+59del (n.3327+59del)
c.3168+59del (n.3168+59del)
c.3171+59del (n.3171+59del)
 gnomAD v4
19g.15180014C>ACA2583062677NOTCH3c.3327+58G>T (n.3327+58G>T)
c.3168+58G>T (n.3168+58G>T)
c.3171+58G>T (n.3171+58G>T)
 gnomAD v4
19g.15180014C>GCA2583062678NOTCH3c.3327+58G>C (n.3327+58G>C)
c.3168+58G>C (n.3168+58G>C)
c.3171+58G>C (n.3171+58G>C)
 gnomAD v4
19g.15180014C>TCA2583062676NOTCH3c.3327+58G>A (n.3327+58G>A)
c.3168+58G>A (n.3168+58G>A)
c.3171+58G>A (n.3171+58G>A)
 gnomAD v4
19g.15180015C>ACA2583062679NOTCH3c.3327+57G>T (n.3327+57G>T)
c.3168+57G>T (n.3168+57G>T)
c.3171+57G>T (n.3171+57G>T)
 gnomAD v4
19g.15180017G>ACA2583062681NOTCH3c.3327+55C>T (n.3327+55C>T)
c.3168+55C>T (n.3168+55C>T)
c.3171+55C>T (n.3171+55C>T)
 gnomAD v4
19g.15180017G>CCA657346195NOTCH3c.3327+55C>G (n.3327+55C>G)
c.3168+55C>G (n.3168+55C>G)
c.3171+55C>G (n.3171+55C>G)
 COSMIC
19g.15180017G>TCA2576654629NOTCH3c.3327+55C>A (n.3327+55C>A)
c.3168+55C>A (n.3168+55C>A)
c.3171+55C>A (n.3171+55C>A)
19g.15180018A>GCA657346198NOTCH3c.3327+54T>C (n.3327+54T>C)
c.3168+54T>C (n.3168+54T>C)
c.3171+54T>C (n.3171+54T>C)
 COSMIC
19g.15180019C>ACA2583062682NOTCH3c.3327+53G>T (n.3327+53G>T)
c.3168+53G>T (n.3168+53G>T)
c.3171+53G>T (n.3171+53G>T)
 gnomAD v4
19g.15180019C=CA2324744191NOTCH3c.3327+53G= (n.3327+53G=)
c.3168+53G= (n.3168+53G=)
c.3171+53G= (n.3171+53G=)
19g.15180019C>TCA305769895NOTCH3c.3327+53G>A (n.3327+53G>A)
c.3168+53G>A (n.3168+53G>A)
c.3171+53G>A (n.3171+53G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15180020G>ACA783621580NOTCH3c.3327+52C>T (n.3327+52C>T)
c.3168+52C>T (n.3168+52C>T)
c.3171+52C>T (n.3171+52C>T)
 dbSNP gnomAD v4
19g.15180020G>CCA2324744193NOTCH3c.3327+52C>G (n.3327+52C>G)
c.3168+52C>G (n.3168+52C>G)
c.3171+52C>G (n.3171+52C>G)
 dbSNP gnomAD v4
19g.15180020G=CA2324744192NOTCH3c.3327+52C= (n.3327+52C=)
c.3168+52C= (n.3168+52C=)
c.3171+52C= (n.3171+52C=)
19g.15180020G>TCA2576654632NOTCH3c.3327+52C>A (n.3327+52C>A)
c.3168+52C>A (n.3168+52C>A)
c.3171+52C>A (n.3171+52C>A)
 gnomAD v4
19g.15180021C>ACA2583062683NOTCH3c.3327+51G>T (n.3327+51G>T)
c.3168+51G>T (n.3168+51G>T)
c.3171+51G>T (n.3171+51G>T)
 gnomAD v4
19g.15180021C>TCA2583062684NOTCH3c.3327+51G>A (n.3327+51G>A)
c.3168+51G>A (n.3168+51G>A)
c.3171+51G>A (n.3171+51G>A)
 gnomAD v4
19g.15180022A>CCA2576654633NOTCH3c.3327+50T>G (n.3327+50T>G)
c.3168+50T>G (n.3168+50T>G)
c.3171+50T>G (n.3171+50T>G)
19g.15180022A>GCA2583062685NOTCH3c.3327+50T>C (n.3327+50T>C)
c.3168+50T>C (n.3168+50T>C)
c.3171+50T>C (n.3171+50T>C)
 gnomAD v4
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)

Number of alleles fetched