Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45407047G>TCA2576817080POLR1Gc.23-47G>T (n.23-47G>T)
c.29-47G>T (n.29-47G>T)
c.20+329G>T
c.-559G>T (n.-559G>T)
19g.45407049C>ACA657248981POLR1Gc.23-45C>A (n.23-45C>A)
c.29-45C>A (n.29-45C>A)
c.20+331C>A
c.-557C>A (n.-557C>A)
 gnomAD v4 COSMIC
19g.45407049C>TCA2576817081POLR1Gc.23-45C>T (n.23-45C>T)
c.29-45C>T (n.29-45C>T)
c.20+331C>T
c.-557C>T (n.-557C>T)
 gnomAD v4
19g.45407050C=CA2338417176POLR1Gc.23-44C= (n.23-44C=)
c.29-44C= (n.29-44C=)
c.20+332C=
c.-556C= (n.-556C=)
19g.45407050C>GCA9514857POLR1Gc.23-44C>G (n.23-44C>G)
c.29-44C>G (n.29-44C>G)
c.20+332C>G
c.-556C>G (n.-556C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407051G>ACA2338417178POLR1Gc.23-43G>A (n.23-43G>A)
c.29-43G>A (n.29-43G>A)
c.20+333G>A
c.-555G>A (n.-555G>A)
 dbSNP gnomAD v4
19g.45407051G=CA2338417177POLR1Gc.23-43G= (n.23-43G=)
c.29-43G= (n.29-43G=)
c.20+333G=
c.-555G= (n.-555G=)
19g.45407052G>ACA2585795782POLR1Gc.23-42G>A (n.23-42G>A)
c.29-42G>A (n.29-42G>A)
c.20+334G>A
c.-554G>A (n.-554G>A)
 gnomAD v4
19g.45407053C=CA2338417179POLR1Gc.23-41C= (n.23-41C=)
c.29-41C= (n.29-41C=)
c.20+335C=
c.-553C= (n.-553C=)
19g.45407053C>TCA2338417180POLR1Gc.23-41C>T (n.23-41C>T)
c.29-41C>T (n.29-41C>T)
c.20+335C>T
c.-553C>T (n.-553C>T)
 dbSNP gnomAD v4
19g.45407054A>CCA2585795783POLR1Gc.23-40A>C (n.23-40A>C)
c.29-40A>C (n.29-40A>C)
c.20+336A>C
c.-552A>C (n.-552A>C)
 gnomAD v4
19g.45407054_45407057delinsAAGGCA2338417181POLR1Gc.23-40_23-37delinsAAGG (n.23-40_23-37delinsAAGG)
c.29-40_29-37delinsAAGG (n.29-40_29-37delinsAAGG)
c.20+336_20+339delinsAAGG
c.-552_-549delinsAAGG (n.-552_-549delinsAAGG)
19g.45407055A>GCA2585795784POLR1Gc.23-39A>G (n.23-39A>G)
c.29-39A>G (n.29-39A>G)
c.20+337A>G
c.-551A>G (n.-551A>G)
 gnomAD v4
19g.45407058_45407060delCA633334869POLR1Gc.23-36_23-34del (n.23-36_23-34del)
c.29-36_29-34del (n.29-36_29-34del)
c.20+340_20+342del
c.-548_-546del (n.-548_-546del)
 dbSNP gnomAD v2 gnomAD v4
19g.45407056G>CCA2338417182POLR1Gc.23-38G>C (n.23-38G>C)
c.29-38G>C (n.29-38G>C)
c.20+338G>C
c.-550G>C (n.-550G>C)
 dbSNP
19g.45407056G=CA2338417183POLR1Gc.23-38G= (n.23-38G=)
c.29-38G= (n.29-38G=)
c.20+338G=
c.-550G= (n.-550G=)
19g.45407057G>ACA996308538POLR1Gc.23-37G>A (n.23-37G>A)
c.29-37G>A (n.29-37G>A)
c.20+339G>A
c.-549G>A (n.-549G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45407057G=CA2338417184POLR1Gc.23-37G= (n.23-37G=)
c.29-37G= (n.29-37G=)
c.20+339G=
c.-549G= (n.-549G=)
19g.45407058A>TCA2585795785POLR1Gc.23-36A>T (n.23-36A>T)
c.29-36A>T (n.29-36A>T)
c.20+340A>T
c.-548A>T (n.-548A>T)
 gnomAD v4
19g.45407059G>ACA2735987511POLR1Gc.23-35G>A (n.23-35G>A)
c.29-35G>A (n.29-35G>A)
c.20+341G>A
c.-547G>A (n.-547G>A)
 dbSNP
19g.45407060G>ACA633334870POLR1Gc.23-34G>A (n.23-34G>A)
c.29-34G>A (n.29-34G>A)
c.20+342G>A
c.-546G>A (n.-546G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407060G>CCA633334871POLR1Gc.23-34G>C (n.23-34G>C)
c.29-34G>C (n.29-34G>C)
c.20+342G>C
c.-546G>C (n.-546G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407060G=CA2338417185POLR1Gc.23-34G= (n.23-34G=)
c.29-34G= (n.29-34G=)
c.20+342G=
c.-546G= (n.-546G=)
19g.45407060G>TCA2576817082POLR1Gc.23-34G>T (n.23-34G>T)
c.29-34G>T (n.29-34G>T)
c.20+342G>T
c.-546G>T (n.-546G>T)
19g.45407061T>CCA2585795786POLR1Gc.23-33T>C (n.23-33T>C)
c.29-33T>C (n.29-33T>C)
c.20+343T>C
c.-545T>C (n.-545T>C)
 gnomAD v4
19g.45407061_45407064dupCA882712563POLR1Gc.23-33_23-30dup (n.23-33_23-30dup)
c.29-33_29-30dup (n.29-33_29-30dup)
c.20+343_20+346dup
c.-545_-542dup (n.-545_-542dup)
 dbSNP
19g.45407062G>ACA9514858POLR1Gc.23-32G>A (n.23-32G>A)
c.29-32G>A (n.29-32G>A)
c.20+344G>A
c.-544G>A (n.-544G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407062G=CA2338417186POLR1Gc.23-32G= (n.23-32G=)
c.29-32G= (n.29-32G=)
c.20+344G=
c.-544G= (n.-544G=)
19g.45407064C>ACA2585795787POLR1Gc.23-30C>A (n.23-30C>A)
c.29-30C>A (n.29-30C>A)
c.20+346C>A
c.-542C>A (n.-542C>A)
 gnomAD v4
19g.45407064C>TCA2814550845POLR1Gc.23-30C>T (n.23-30C>T)
c.29-30C>T (n.29-30C>T)
c.20+346C>T
c.-542C>T (n.-542C>T)
19g.45407066G>ACA2585795788POLR1Gc.23-28G>A (n.23-28G>A)
c.29-28G>A (n.29-28G>A)
c.20+348G>A
c.-540G>A (n.-540G>A)
 gnomAD v4
19g.45407068C>ACA2585795789POLR1Gc.23-26C>A (n.23-26C>A)
c.29-26C>A (n.29-26C>A)
c.20+350C>A
c.-538C>A (n.-538C>A)
 gnomAD v4
19g.45407068C=CA2338417187POLR1Gc.23-26C= (n.23-26C=)
c.29-26C= (n.29-26C=)
c.20+350C=
c.-538C= (n.-538C=)
19g.45407068C>GCA9514859POLR1Gc.23-26C>G (n.23-26C>G)
c.29-26C>G (n.29-26C>G)
c.20+350C>G
c.-538C>G (n.-538C>G)
 dbSNP ExAC
19g.45407071C=CA2338417188POLR1Gc.23-23C= (n.23-23C=)
c.29-23C= (n.29-23C=)
c.20+353C=
c.-535C= (n.-535C=)
19g.45407071C>TCA2338417189POLR1Gc.23-23C>T (n.23-23C>T)
c.29-23C>T (n.29-23C>T)
c.20+353C>T
c.-535C>T (n.-535C>T)
 dbSNP gnomAD v4
19g.45407074delCA2585795790POLR1Gc.23-20del (n.23-20del)
c.29-20del (n.29-20del)
c.20+356del
c.-532del (n.-532del)
 gnomAD v4
19g.45407073C>GCA2585795791POLR1Gc.23-21C>G (n.23-21C>G)
c.29-21C>G (n.29-21C>G)
c.20+355C>G
c.-533C>G (n.-533C>G)
 gnomAD v4
19g.45407074C>ACA9514860POLR1Gc.23-20C>A (n.23-20C>A)
c.29-20C>A (n.29-20C>A)
c.20+356C>A
c.-532C>A (n.-532C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407074C=CA2338417190POLR1Gc.23-20C= (n.23-20C=)
c.29-20C= (n.29-20C=)
c.20+356C=
c.-532C= (n.-532C=)
19g.45407075A=CA2338417191POLR1Gc.23-19A= (n.23-19A=)
c.29-19A= (n.29-19A=)
c.20+357A=
c.-531A= (n.-531A=)
19g.45407075A>CCA996308545POLR1Gc.23-19A>C (n.23-19A>C)
c.29-19A>C (n.29-19A>C)
c.20+357A>C
c.-531A>C (n.-531A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.45407075A>TCA2585795792POLR1Gc.23-19A>T (n.23-19A>T)
c.29-19A>T (n.29-19A>T)
c.20+357A>T
c.-531A>T (n.-531A>T)
 gnomAD v4
19g.45407076T>CCA2585795793POLR1Gc.23-18T>C (n.23-18T>C)
c.29-18T>C (n.29-18T>C)
c.20+358T>C
c.-530T>C (n.-530T>C)
 gnomAD v4
19g.45407078T>CCA2585795794POLR1Gc.23-16T>C (n.23-16T>C)
c.29-16T>C (n.29-16T>C)
c.20+360T>C
c.-528T>C (n.-528T>C)
 gnomAD v4
19g.45407079C=CA2338417192POLR1Gc.23-15C= (n.23-15C=)
c.29-15C= (n.29-15C=)
c.20+361C=
c.-527C= (n.-527C=)
19g.45407079C>TCA633334872POLR1Gc.23-15C>T (n.23-15C>T)
c.29-15C>T (n.29-15C>T)
c.20+361C>T
c.-527C>T (n.-527C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407080C>TCA2585795795POLR1Gc.23-14C>T (n.23-14C>T)
c.29-14C>T (n.29-14C>T)
c.20+362C>T
c.-526C>T (n.-526C>T)
 gnomAD v4
19g.45407081C=CA2338417193POLR1Gc.23-13C= (n.23-13C=)
c.29-13C= (n.29-13C=)
c.20+363C=
c.-525C= (n.-525C=)
19g.45407081C>TCA882712570POLR1Gc.23-13C>T (n.23-13C>T)
c.29-13C>T (n.29-13C>T)
c.20+363C>T
c.-525C>T (n.-525C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.45407082C>TCA2585795796POLR1Gc.23-12C>T (n.23-12C>T)
c.29-12C>T (n.29-12C>T)
c.20+364C>T
c.-524C>T (n.-524C>T)
 gnomAD v4
19g.45407083T>ACA2735987513POLR1Gc.23-11T>A (n.23-11T>A)
c.29-11T>A (n.29-11T>A)
c.20+365T>A
c.-523T>A (n.-523T>A)
 dbSNP
19g.45407083T>GCA2585795797POLR1Gc.23-11T>G (n.23-11T>G)
c.29-11T>G (n.29-11T>G)
c.20+365T>G
c.-523T>G (n.-523T>G)
 gnomAD v4
19g.45407084T>CCA633334873POLR1Gc.23-10T>C (n.23-10T>C)
c.29-10T>C (n.29-10T>C)
c.20+366T>C
c.-522T>C (n.-522T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.45407084T=CA2338417194POLR1Gc.23-10T= (n.23-10T=)
c.29-10T= (n.29-10T=)
c.20+366T=
c.-522T= (n.-522T=)
19g.45407087G>ACA9514861POLR1Gc.23-7G>A (n.23-7G>A)
c.29-7G>A (n.29-7G>A)
c.20+369G>A
c.-519G>A (n.-519G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407087G=CA2338417195POLR1Gc.23-7G= (n.23-7G=)
c.29-7G= (n.29-7G=)
c.20+369G=
c.-519G= (n.-519G=)
19g.45407089T>ACA2735987532POLR1Gc.23-5T>A (n.23-5T>A)
c.29-5T>A (n.29-5T>A)
c.20+371T>A
c.-517T>A (n.-517T>A)
 dbSNP
19g.45407090G>ACA2576817083POLR1Gc.23-4G>A (n.23-4G>A)
c.29-4G>A (n.29-4G>A)
c.20+372G>A
c.-516G>A (n.-516G>A)
 gnomAD v4
19g.45407090G=CA2338417196POLR1Gc.23-4G= (n.23-4G=)
c.29-4G= (n.29-4G=)
c.20+372G=
c.-516G= (n.-516G=)
19g.45407090G>TCA2338417197POLR1Gc.23-4G>T (n.23-4G>T)
c.29-4G>T (n.29-4G>T)
c.20+372G>T
c.-516G>T (n.-516G>T)
 dbSNP
19g.45407091C=CA2338417198POLR1Gc.23-3C= (n.23-3C=)
c.29-3C= (n.29-3C=)
c.20+373C=
c.-515C= (n.-515C=)
19g.45407091C>TCA633334874POLR1Gc.23-3C>T (n.23-3C>T)
c.29-3C>T (n.29-3C>T)
c.20+373C>T
c.-515C>T (n.-515C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407092A>CCA406345223POLR1Gc.23-2A>C (n.23-2A>C)
c.29-2A>C (n.29-2A>C)
c.20+374A>C
c.-514A>C (n.-514A>C)
19g.45407092A>GCA406345224POLR1Gc.23-2A>G (n.23-2A>G)
c.29-2A>G (n.29-2A>G)
c.20+374A>G
c.-514A>G (n.-514A>G)
19g.45407092A>TCA406345225POLR1Gc.23-2A>T (n.23-2A>T)
c.29-2A>T (n.29-2A>T)
c.20+374A>T
c.-514A>T (n.-514A>T)
19g.45407093G>ACA406345226POLR1Gc.23-1G>A (n.23-1G>A)
c.29-1G>A (n.29-1G>A)
c.20+375G>A
c.-513G>A (n.-513G>A)
19g.45407093G>CCA406345227POLR1Gc.23-1G>C (n.23-1G>C)
c.29-1G>C (n.29-1G>C)
c.20+375G>C
c.-513G>C (n.-513G>C)
19g.45407093G>TCA406345228POLR1Gc.23-1G>T (n.23-1G>T)
c.29-1G>T (n.29-1G>T)
c.20+375G>T
c.-513G>T (n.-513G>T)
19g.45407094A>CCA406345231POLR1Gc.23A>C (p.Asp8Ala)
c.29A>C (p.Asp10Ala)
c.20+376A>C
c.-512A>C (n.-512A>C)
19g.45407094A>GCA406345230POLR1Gc.23A>G (p.Asp8Gly)
c.29A>G (p.Asp10Gly)
c.20+376A>G
c.-512A>G (n.-512A>G)
19g.45407094A>TCA406345229POLR1Gc.23A>T (p.Asp8Val)
c.29A>T (p.Asp10Val)
c.20+376A>T
c.-512A>T (n.-512A>T)
19g.45407094_45407097delinsATGCCA2338417199POLR1Gc.23_26delinsATGC (p.Asp8=)
c.29_32delinsATGC (p.Asp10=)
c.20+376_20+379delinsATGC
c.-512_-509delinsATGC (n.-512_-509delinsATGC)
19g.45407095T>ACA406345232POLR1Gc.24T>A (p.Asp8Glu)
c.30T>A (p.Asp10Glu)
c.20+377T>A
c.-511T>A (n.-511T>A)
19g.45407095T>CCA9514862POLR1Gc.24T>C (p.Asp8=)
c.30T>C (p.Asp10=)
c.20+377T>C
c.-511T>C (n.-511T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407095T>GCA406345233POLR1Gc.24T>G (p.Asp8Glu)
c.30T>G (p.Asp10Glu)
c.20+377T>G
c.-511T>G (n.-511T>G)
19g.45407095T=CA2338417200POLR1Gc.24T= (p.Asp8=)
c.30T= (p.Asp10=)
c.20+377T=
c.-511T= (n.-511T=)
19g.45407099_45407101delCA882712586POLR1Gc.28_30del (p.Ala10del)
c.34_36del (p.Ala12del)
c.20+381_20+383del
c.-507_-505del (n.-507_-505del)
 dbSNP gnomAD v3 gnomAD v4
19g.45407096G>ACA308937363POLR1Gc.25G>A (p.Ala9Thr)
c.31G>A (p.Ala11Thr)
c.20+378G>A
c.-510G>A (n.-510G>A)
 dbSNP
19g.45407096G>CCA406345234POLR1Gc.25G>C (p.Ala9Pro)
c.31G>C (p.Ala11Pro)
c.20+378G>C
c.-510G>C (n.-510G>C)
19g.45407096G=CA2338417201POLR1Gc.25G= (p.Ala9=)
c.31G= (p.Ala11=)
c.20+378G=
c.-510G= (n.-510G=)
19g.45407096G>TCA406345235POLR1Gc.25G>T (p.Ala9Ser)
c.31G>T (p.Ala11Ser)
c.20+378G>T
c.-510G>T (n.-510G>T)
19g.45407097C>ACA406345236POLR1Gc.26C>A (p.Ala9Asp)
c.32C>A (p.Ala11Asp)
c.20+379C>A
c.-509C>A (n.-509C>A)
19g.45407097C>GCA406345237POLR1Gc.26C>G (p.Ala9Gly)
c.32C>G (p.Ala11Gly)
c.20+379C>G
c.-509C>G (n.-509C>G)
 gnomAD v4
19g.45407097C>TCA406345238POLR1Gc.26C>T (p.Ala9Val)
c.32C>T (p.Ala11Val)
c.20+379C>T
c.-509C>T (n.-509C>T)
19g.45407098T>ACA507815581POLR1Gc.27T>A (p.Ala9=)
c.33T>A (p.Ala11=)
c.20+380T>A
c.-508T>A (n.-508T>A)
19g.45407098T>CCA507815576POLR1Gc.27T>C (p.Ala9=)
c.33T>C (p.Ala11=)
c.20+380T>C
c.-508T>C (n.-508T>C)
19g.45407098T>GCA507815579POLR1Gc.27T>G (p.Ala9=)
c.33T>G (p.Ala11=)
c.20+380T>G
c.-508T>G (n.-508T>G)
19g.45407099G>ACA406345239POLR1Gc.28G>A (p.Ala10Thr)
c.34G>A (p.Ala12Thr)
c.20+381G>A
c.-507G>A (n.-507G>A)
 dbSNP
19g.45407099G>CCA406345240POLR1Gc.28G>C (p.Ala10Pro)
c.34G>C (p.Ala12Pro)
c.20+381G>C
c.-507G>C (n.-507G>C)
 gnomAD v4
19g.45407099G=CA2338417202POLR1Gc.28G= (p.Ala10=)
c.34G= (p.Ala12=)
c.20+381G=
c.-507G= (n.-507G=)
19g.45407099G>TCA406345241POLR1Gc.28G>T (p.Ala10Ser)
c.34G>T (p.Ala12Ser)
c.20+381G>T
c.-507G>T (n.-507G>T)
19g.45407100C>ACA406345242POLR1Gc.29C>A (p.Ala10Asp)
c.35C>A (p.Ala12Asp)
c.20+382C>A
c.-506C>A (n.-506C>A)
19g.45407100C>GCA406345244POLR1Gc.29C>G (p.Ala10Gly)
c.35C>G (p.Ala12Gly)
c.20+382C>G
c.-506C>G (n.-506C>G)
19g.45407100C>TCA406345243POLR1Gc.29C>T (p.Ala10Val)
c.35C>T (p.Ala12Val)
c.20+382C>T
c.-506C>T (n.-506C>T)
19g.45407101T>ACA507815591POLR1Gc.30T>A (p.Ala10=)
c.36T>A (p.Ala12=)
c.20+383T>A
c.-505T>A (n.-505T>A)
19g.45407101T>CCA507815594POLR1Gc.30T>C (p.Ala10=)
c.36T>C (p.Ala12=)
c.20+383T>C
c.-505T>C (n.-505T>C)
19g.45407101T>GCA507815596POLR1Gc.30T>G (p.Ala10=)
c.36T>G (p.Ala12=)
c.20+383T>G
c.-505T>G (n.-505T>G)
19g.45407102C>ACA507815600POLR1Gc.31C>A (p.Arg11=)
c.37C>A (p.Arg13=)
c.20+384C>A
c.-504C>A (n.-504C>A)
 dbSNP gnomAD v4
19g.45407102C=CA2338417203POLR1Gc.31C= (p.Arg11=)
c.37C= (p.Arg13=)
c.20+384C=
c.-504C= (n.-504C=)
19g.45407102C>GCA406345245POLR1Gc.31C>G (p.Arg11Gly)
c.37C>G (p.Arg13Gly)
c.20+384C>G
c.-504C>G (n.-504C>G)
19g.45407102C>TCA9514863POLR1Gc.31C>T (p.Arg11Trp)
c.37C>T (p.Arg13Trp)
c.20+384C>T
c.-504C>T (n.-504C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407103G>ACA9514864POLR1Gc.32G>A (p.Arg11Gln)
c.38G>A (p.Arg13Gln)
c.20+385G>A
c.-503G>A (n.-503G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407103G>CCA406345246POLR1Gc.32G>C (p.Arg11Pro)
c.38G>C (p.Arg13Pro)
c.20+385G>C
c.-503G>C (n.-503G>C)
19g.45407103G=CA2338417204POLR1Gc.32G= (p.Arg11=)
c.38G= (p.Arg13=)
c.20+385G=
c.-503G= (n.-503G=)
19g.45407103G>TCA9514865POLR1Gc.32G>T (p.Arg11Leu)
c.38G>T (p.Arg13Leu)
c.20+385G>T
c.-503G>T (n.-503G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407104G>ACA507815632POLR1Gc.33G>A (p.Arg11=)
c.39G>A (p.Arg13=)
c.20+386G>A
c.-502G>A (n.-502G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407104G>CCA507815626POLR1Gc.33G>C (p.Arg11=)
c.39G>C (p.Arg13=)
c.20+386G>C
c.-502G>C (n.-502G>C)
19g.45407104G=CA2338417205POLR1Gc.33G= (p.Arg11=)
c.39G= (p.Arg13=)
c.20+386G=
c.-502G= (n.-502G=)
19g.45407104G>TCA507815629POLR1Gc.33G>T (p.Arg11=)
c.39G>T (p.Arg13=)
c.20+386G>T
c.-502G>T (n.-502G>T)
19g.45407105T>ACA406345247POLR1Gc.34T>A (p.Phe12Ile)
c.40T>A (p.Phe14Ile)
c.20+387T>A
c.-501T>A (n.-501T>A)
19g.45407105T>CCA406345248POLR1Gc.34T>C (p.Phe12Leu)
c.40T>C (p.Phe14Leu)
c.20+387T>C
c.-501T>C (n.-501T>C)
19g.45407105T>GCA406345249POLR1Gc.34T>G (p.Phe12Val)
c.40T>G (p.Phe14Val)
c.20+387T>G
c.-501T>G (n.-501T>G)
19g.45407106T>ACA406345250POLR1Gc.35T>A (p.Phe12Tyr)
c.41T>A (p.Phe14Tyr)
c.20+388T>A
c.-500T>A (n.-500T>A)
19g.45407106T>CCA406345251POLR1Gc.35T>C (p.Phe12Ser)
c.41T>C (p.Phe14Ser)
c.20+388T>C
c.-500T>C (n.-500T>C)
 ClinVar gnomAD v4
19g.45407106T>GCA406345252POLR1Gc.35T>G (p.Phe12Cys)
c.41T>G (p.Phe14Cys)
c.20+388T>G
c.-500T>G (n.-500T>G)
19g.45407106_45407109delinsTCTCCA2338417206POLR1Gc.35_38delinsTCTC (p.Phe12=)
c.41_44delinsTCTC (p.Phe14=)
c.20+388_20+391delinsTCTC
c.-500_-497delinsTCTC (n.-500_-497delinsTCTC)
19g.45407109_45407110delCA2576817084POLR1Gc.38_39del (p.Ser13LeufsTer?)
c.44_45del (p.Ser15LeufsTer?)
c.20+391_20+392del
c.-497_-496del (n.-497_-496del)
 gnomAD v4
19g.45407107C>ACA9514868POLR1Gc.36C>A (p.Phe12Leu)
c.42C>A (p.Phe14Leu)
c.20+389C>A
c.-499C>A (n.-499C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407107C=CA2338417207POLR1Gc.36C= (p.Phe12=)
c.42C= (p.Phe14=)
c.20+389C=
c.-499C= (n.-499C=)
19g.45407107C>GCA9514867POLR1Gc.36C>G (p.Phe12Leu)
c.42C>G (p.Phe14Leu)
c.20+389C>G
c.-499C>G (n.-499C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407107C>TCA507815650POLR1Gc.36C>T (p.Phe12=)
c.42C>T (p.Phe14=)
c.20+389C>T
c.-499C>T (n.-499C>T)
19g.45407107_45407109delCA9514866POLR1Gc.36_38del (p.Ser13del)
c.42_44del (p.Ser15del)
c.20+389_20+391del
c.-499_-497del (n.-499_-497del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407108T>ACA406345255POLR1Gc.37T>A (p.Ser13Thr)
c.43T>A (p.Ser15Thr)
c.20+390T>A
c.-498T>A (n.-498T>A)
19g.45407108T>CCA406345253POLR1Gc.37T>C (p.Ser13Pro)
c.43T>C (p.Ser15Pro)
c.20+390T>C
c.-498T>C (n.-498T>C)
19g.45407108T>GCA406345254POLR1Gc.37T>G (p.Ser13Ala)
c.43T>G (p.Ser15Ala)
c.20+390T>G
c.-498T>G (n.-498T>G)
19g.45407109C>ACA406345256POLR1Gc.38C>A (p.Ser13Tyr)
c.44C>A (p.Ser15Tyr)
c.20+391C>A
c.-497C>A (n.-497C>A)
19g.45407109C=CA2338417208POLR1Gc.38C= (p.Ser13=)
c.44C= (p.Ser15=)
c.20+391C=
c.-497C= (n.-497C=)
19g.45407109C>GCA406345257POLR1Gc.38C>G (p.Ser13Cys)
c.44C>G (p.Ser15Cys)
c.20+391C>G
c.-497C>G (n.-497C>G)
 COSMIC
19g.45407109C>TCA9514869POLR1Gc.38C>T (p.Ser13Phe)
c.44C>T (p.Ser15Phe)
c.20+391C>T
c.-497C>T (n.-497C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45407110T>ACA507815663POLR1Gc.39T>A (p.Ser13=)
c.45T>A (p.Ser15=)
c.20+392T>A
c.-496T>A (n.-496T>A)
19g.45407110T>CCA507815665POLR1Gc.39T>C (p.Ser13=)
c.45T>C (p.Ser15=)
c.20+392T>C
c.-496T>C (n.-496T>C)
19g.45407110T>GCA507815666POLR1Gc.39T>G (p.Ser13=)
c.45T>G (p.Ser15=)
c.20+392T>G
c.-496T>G (n.-496T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407110T=CA2338417209POLR1Gc.39T= (p.Ser13=)
c.45T= (p.Ser15=)
c.20+392T=
c.-496T= (n.-496T=)
19g.45407111T>ACA406345258POLR1Gc.40T>A (p.Cys14Ser)
c.46T>A (p.Cys16Ser)
c.20+393T>A
c.-495T>A (n.-495T>A)
19g.45407111T>CCA406345259POLR1Gc.40T>C (p.Cys14Arg)
c.46T>C (p.Cys16Arg)
c.20+393T>C
c.-495T>C (n.-495T>C)
 gnomAD v4
19g.45407111T>GCA406345260POLR1Gc.40T>G (p.Cys14Gly)
c.46T>G (p.Cys16Gly)
c.20+393T>G
c.-495T>G (n.-495T>G)
19g.45407112G>ACA9514870POLR1Gc.41G>A (p.Cys14Tyr)
c.47G>A (p.Cys16Tyr)
c.20+394G>A
c.-494G>A (n.-494G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407112G>CCA406345261POLR1Gc.41G>C (p.Cys14Ser)
c.47G>C (p.Cys16Ser)
c.20+394G>C
c.-494G>C (n.-494G>C)
19g.45407112G=CA2338417210POLR1Gc.41G= (p.Cys14=)
c.47G= (p.Cys16=)
c.20+394G=
c.-494G= (n.-494G=)
19g.45407112G>TCA406345262POLR1Gc.41G>T (p.Cys14Phe)
c.47G>T (p.Cys16Phe)
c.20+394G>T
c.-494G>T (n.-494G>T)
19g.45407113T>ACA406345263POLR1Gc.42T>A (p.Cys14Ter)
c.48T>A (p.Cys16Ter)
c.20+395T>A
c.-493T>A (n.-493T>A)
19g.45407113T>CCA507815689POLR1Gc.42T>C (p.Cys14=)
c.48T>C (p.Cys16=)
c.20+395T>C
c.-493T>C (n.-493T>C)
19g.45407113T>GCA406345264POLR1Gc.42T>G (p.Cys14Trp)
c.48T>G (p.Cys16Trp)
c.20+395T>G
c.-493T>G (n.-493T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407113T=CA2338417212POLR1Gc.42T= (p.Cys14=)
c.48T= (p.Cys16=)
c.20+395T=
c.-493T= (n.-493T=)
19g.45407113dupCA920118538POLR1Gc.42dup (p.Pro15SerfsTer?)
c.48dup (p.Pro17SerfsTer?)
c.20+395dup
c.-493dup (n.-493dup)
 dbSNP gnomAD v4
19g.45407113_45407114delinsTCCA2338417211POLR1Gc.42_43delinsTC (p.Cys14=)
c.48_49delinsTC (p.Cys16=)
c.20+395_20+396delinsTC
c.-493_-492delinsTC (n.-493_-492delinsTC)
19g.45407113_45407114insGGGCA2573050984POLR1Gc.42_43insGGG (p.Cys14_Pro15insGly)
c.48_49insGGG (p.Cys16_Pro17insGly)
c.20+395_20+396insGGG
c.-493_-492insGGG (n.-493_-492insGGG)
19g.45407114C>ACA308937430POLR1Gc.43C>A (p.Pro15Thr)
c.49C>A (p.Pro17Thr)
c.20+396C>A
c.-492C>A (n.-492C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45407114C=CA2338417213POLR1Gc.43C= (p.Pro15=)
c.49C= (p.Pro17=)
c.20+396C=
c.-492C= (n.-492C=)
19g.45407114C>GCA406345266POLR1Gc.43C>G (p.Pro15Ala)
c.49C>G (p.Pro17Ala)
c.20+396C>G
c.-492C>G (n.-492C>G)
19g.45407114C>TCA406345265POLR1Gc.43C>T (p.Pro15Ser)
c.49C>T (p.Pro17Ser)
c.20+396C>T
c.-492C>T (n.-492C>T)
 COSMIC
19g.45407119dupCA633334875POLR1Gc.48dup (p.Asn17GlnfsTer?)
c.54dup (p.Asn19GlnfsTer?)
c.20+401dup
c.-487dup (n.-487dup)
 dbSNP gnomAD v2
19g.45407119delCA645605412POLR1Gc.48del (p.Asn17ThrfsTer19)
c.54del (p.Asn19ThrfsTer19)
c.20+401del
c.-487del (n.-487del)
 dbSNP gnomAD v4 COSMIC
19g.45407115C>ACA406345267POLR1Gc.44C>A (p.Pro15His)
c.50C>A (p.Pro17His)
c.20+397C>A
c.-491C>A (n.-491C>A)
19g.45407115C=CA2338417214POLR1Gc.44C= (p.Pro15=)
c.50C= (p.Pro17=)
c.20+397C=
c.-491C= (n.-491C=)
19g.45407115C>GCA406345268POLR1Gc.44C>G (p.Pro15Arg)
c.50C>G (p.Pro17Arg)
c.20+397C>G
c.-491C>G (n.-491C>G)
19g.45407115C>TCA406345269POLR1Gc.44C>T (p.Pro15Leu)
c.50C>T (p.Pro17Leu)
c.20+397C>T
c.-491C>T (n.-491C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.45407116C>ACA507815707POLR1Gc.45C>A (p.Pro15=)
c.51C>A (p.Pro17=)
c.20+398C>A
c.-490C>A (n.-490C>A)
19g.45407116C>GCA507815710POLR1Gc.45C>G (p.Pro15=)
c.51C>G (p.Pro17=)
c.20+398C>G
c.-490C>G (n.-490C>G)
19g.45407116C>TCA507815713POLR1Gc.45C>T (p.Pro15=)
c.51C>T (p.Pro17=)
c.20+398C>T
c.-490C>T (n.-490C>T)
 gnomAD v4
19g.45407117C>ACA406345270POLR1Gc.46C>A (p.Pro16Thr)
c.52C>A (p.Pro18Thr)
c.20+399C>A
c.-489C>A (n.-489C>A)
19g.45407117C>GCA406345271POLR1Gc.46C>G (p.Pro16Ala)
c.52C>G (p.Pro18Ala)
c.20+399C>G
c.-489C>G (n.-489C>G)
19g.45407117C>TCA406345272POLR1Gc.46C>T (p.Pro16Ser)
c.52C>T (p.Pro18Ser)
c.20+399C>T
c.-489C>T (n.-489C>T)
19g.45407118C>ACA9514872POLR1Gc.47C>A (p.Pro16His)
c.53C>A (p.Pro18His)
c.20+400C>A
c.-488C>A (n.-488C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407118C=CA2338417215POLR1Gc.47C= (p.Pro16=)
c.53C= (p.Pro18=)
c.20+400C=
c.-488C= (n.-488C=)
19g.45407118C>GCA9514873POLR1Gc.47C>G (p.Pro16Arg)
c.53C>G (p.Pro18Arg)
c.20+400C>G
c.-488C>G (n.-488C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407118C>TCA406345273POLR1Gc.47C>T (p.Pro16Leu)
c.53C>T (p.Pro18Leu)
c.20+400C>T
c.-488C>T (n.-488C>T)
 gnomAD v4
19g.45407118_45407119insGCA9514871POLR1Gc.47_48insG (p.Asn17GlnfsTer?)
c.53_54insG (p.Asn19GlnfsTer?)
c.20+400_20+401insG
c.-488_-487insG (n.-488_-487insG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407119C>ACA507815736POLR1Gc.48C>A (p.Pro16=)
c.54C>A (p.Pro18=)
c.20+401C>A
c.-487C>A (n.-487C>A)
19g.45407119C>GCA507815728POLR1Gc.48C>G (p.Pro16=)
c.54C>G (p.Pro18=)
c.20+401C>G
c.-487C>G (n.-487C>G)
 gnomAD v4
19g.45407119C>TCA507815732POLR1Gc.48C>T (p.Pro16=)
c.54C>T (p.Pro18=)
c.20+401C>T
c.-487C>T (n.-487C>T)
19g.45407120A>CCA406345274POLR1Gc.49A>C (p.Asn17His)
c.55A>C (p.Asn19His)
c.20+402A>C
c.-486A>C (n.-486A>C)
 gnomAD v4
19g.45407120A>GCA406345275POLR1Gc.49A>G (p.Asn17Asp)
c.55A>G (p.Asn19Asp)
c.20+402A>G
c.-486A>G (n.-486A>G)
19g.45407120A>TCA406345276POLR1Gc.49A>T (p.Asn17Tyr)
c.55A>T (p.Asn19Tyr)
c.20+402A>T
c.-486A>T (n.-486A>T)
19g.45407121A=CA2338417216POLR1Gc.50A= (p.Asn17=)
c.56A= (p.Asn19=)
c.20+403A=
c.-485A= (n.-485A=)
19g.45407121A>CCA308937455POLR1Gc.50A>C (p.Asn17Thr)
c.56A>C (p.Asn19Thr)
c.20+403A>C
c.-485A>C (n.-485A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407121A>GCA406345278POLR1Gc.50A>G (p.Asn17Ser)
c.56A>G (p.Asn19Ser)
c.20+403A>G
c.-485A>G (n.-485A>G)
 gnomAD v4
19g.45407121A>TCA406345277POLR1Gc.50A>T (p.Asn17Ile)
c.56A>T (p.Asn19Ile)
c.20+403A>T
c.-485A>T (n.-485A>T)
19g.45407122C>ACA406345279POLR1Gc.51C>A (p.Asn17Lys)
c.57C>A (p.Asn19Lys)
c.20+404C>A
c.-484C>A (n.-484C>A)
19g.45407122C>GCA406345280POLR1Gc.51C>G (p.Asn17Lys)
c.57C>G (p.Asn19Lys)
c.20+404C>G
c.-484C>G (n.-484C>G)
19g.45407122C>TCA507815751POLR1Gc.51C>T (p.Asn17=)
c.57C>T (p.Asn19=)
c.20+404C>T
c.-484C>T (n.-484C>T)
19g.45407123T>ACA406345281POLR1Gc.52T>A (p.Phe18Ile)
c.58T>A (p.Phe20Ile)
c.20+405T>A
c.-483T>A (n.-483T>A)
19g.45407123T>CCA406345282POLR1Gc.52T>C (p.Phe18Leu)
c.58T>C (p.Phe20Leu)
c.20+405T>C
c.-483T>C (n.-483T>C)
 dbSNP gnomAD v4
19g.45407123T>GCA406345283POLR1Gc.52T>G (p.Phe18Val)
c.58T>G (p.Phe20Val)
c.20+405T>G
c.-483T>G (n.-483T>G)
19g.45407123T=CA2338417217POLR1Gc.52T= (p.Phe18=)
c.58T= (p.Phe20=)
c.20+405T=
c.-483T= (n.-483T=)
19g.45407124T>ACA406345284POLR1Gc.53T>A (p.Phe18Tyr)
c.59T>A (p.Phe20Tyr)
c.20+406T>A
c.-482T>A (n.-482T>A)
19g.45407124T>CCA406345285POLR1Gc.53T>C (p.Phe18Ser)
c.59T>C (p.Phe20Ser)
c.20+406T>C
c.-482T>C (n.-482T>C)
19g.45407124T>GCA406345286POLR1Gc.53T>G (p.Phe18Cys)
c.59T>G (p.Phe20Cys)
c.20+406T>G
c.-482T>G (n.-482T>G)
19g.45407125T>ACA406345287POLR1Gc.54T>A (p.Phe18Leu)
c.60T>A (p.Phe20Leu)
c.20+407T>A
c.-481T>A (n.-481T>A)
19g.45407125T>CCA308937460POLR1Gc.54T>C (p.Phe18=)
c.60T>C (p.Phe20=)
c.20+407T>C
c.-481T>C (n.-481T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45407125T>GCA406345288POLR1Gc.54T>G (p.Phe18Leu)
c.60T>G (p.Phe20Leu)
c.20+407T>G
c.-481T>G (n.-481T>G)
19g.45407125T=CA2338417218POLR1Gc.54T= (p.Phe18=)
c.60T= (p.Phe20=)
c.20+407T=
c.-481T= (n.-481T=)
19g.45407126delCA2585795798POLR1Gc.55del (p.Thr19ProfsTer17)
c.61del (p.Thr21ProfsTer17)
c.20+408del
c.-480del (n.-480del)
 gnomAD v4
19g.45407126A=CA2338417219POLR1Gc.55A= (p.Thr19=)
c.61A= (p.Thr21=)
c.20+408A=
c.-480A= (n.-480A=)
19g.45407126A>CCA406345289POLR1Gc.55A>C (p.Thr19Pro)
c.61A>C (p.Thr21Pro)
c.20+408A>C
c.-480A>C (n.-480A>C)
19g.45407126A>GCA406345290POLR1Gc.55A>G (p.Thr19Ala)
c.61A>G (p.Thr21Ala)
c.20+408A>G
c.-480A>G (n.-480A>G)
 dbSNP
19g.45407126A>TCA406345291POLR1Gc.55A>T (p.Thr19Ser)
c.61A>T (p.Thr21Ser)
c.20+408A>T
c.-480A>T (n.-480A>T)
19g.45407127C>ACA406345293POLR1Gc.56C>A (p.Thr19Asn)
c.62C>A (p.Thr21Asn)
c.20+409C>A
c.-479C>A (n.-479C>A)
19g.45407127C>GCA406345294POLR1Gc.56C>G (p.Thr19Ser)
c.62C>G (p.Thr21Ser)
c.20+409C>G
c.-479C>G (n.-479C>G)
19g.45407127C>TCA406345292POLR1Gc.56C>T (p.Thr19Ile)
c.62C>T (p.Thr21Ile)
c.20+409C>T
c.-479C>T (n.-479C>T)
19g.45407128C>ACA507815779POLR1Gc.57C>A (p.Thr19=)
c.63C>A (p.Thr21=)
c.20+410C>A
c.-478C>A (n.-478C>A)
19g.45407128C=CA2338417220POLR1Gc.57C= (p.Thr19=)
c.63C= (p.Thr21=)
c.20+410C=
c.-478C= (n.-478C=)
19g.45407128C>GCA9514874POLR1Gc.57C>G (p.Thr19=)
c.63C>G (p.Thr21=)
c.20+410C>G
c.-478C>G (n.-478C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407128C>TCA507815784POLR1Gc.57C>T (p.Thr19=)
c.63C>T (p.Thr21=)
c.20+410C>T
c.-478C>T (n.-478C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.45407129G>ACA406345296POLR1Gc.58G>A (p.Ala20Thr)
c.64G>A (p.Ala22Thr)
c.20+411G>A
c.-477G>A (n.-477G>A)
19g.45407129G>CCA406345295POLR1Gc.58G>C (p.Ala20Pro)
c.64G>C (p.Ala22Pro)
c.20+411G>C
c.-477G>C (n.-477G>C)
19g.45407129G=CA2338417221POLR1Gc.58G= (p.Ala20=)
c.64G= (p.Ala22=)
c.20+411G=
c.-477G= (n.-477G=)
19g.45407129G>TCA406345297POLR1Gc.58G>T (p.Ala20Ser)
c.64G>T (p.Ala22Ser)
c.20+411G>T
c.-477G>T (n.-477G>T)
 dbSNP gnomAD v4
19g.45407130C>ACA406345298POLR1Gc.59C>A (p.Ala20Glu)
c.65C>A (p.Ala22Glu)
c.20+412C>A
c.-476C>A (n.-476C>A)
19g.45407130C>GCA406345300POLR1Gc.59C>G (p.Ala20Gly)
c.65C>G (p.Ala22Gly)
c.20+412C>G
c.-476C>G (n.-476C>G)
19g.45407130C>TCA406345299POLR1Gc.59C>T (p.Ala20Val)
c.65C>T (p.Ala22Val)
c.20+412C>T
c.-476C>T (n.-476C>T)
 gnomAD v4
19g.45407131G>ACA507815797POLR1Gc.60G>A (p.Ala20=)
c.66G>A (p.Ala22=)
c.20+413G>A
c.-475G>A (n.-475G>A)
19g.45407131G>CCA507815801POLR1Gc.60G>C (p.Ala20=)
c.66G>C (p.Ala22=)
c.20+413G>C
c.-475G>C (n.-475G>C)
19g.45407131G>TCA507815798POLR1Gc.60G>T (p.Ala20=)
c.66G>T (p.Ala22=)
c.20+413G>T
c.-475G>T (n.-475G>T)
19g.45407132A>CCA406345301POLR1Gc.61A>C (p.Lys21Gln)
c.67A>C (p.Lys23Gln)
c.20+414A>C
c.-474A>C (n.-474A>C)
19g.45407132A>GCA406345302POLR1Gc.61A>G (p.Lys21Glu)
c.67A>G (p.Lys23Glu)
c.20+414A>G
c.-474A>G (n.-474A>G)
19g.45407132A>TCA406345303POLR1Gc.61A>T (p.Lys21Ter)
c.67A>T (p.Lys23Ter)
c.20+414A>T
c.-474A>T (n.-474A>T)
19g.45407133A=CA2338417222POLR1Gc.62A= (p.Lys21=)
c.68A= (p.Lys23=)
c.20+415A=
c.-473A= (n.-473A=)
19g.45407133A>CCA406345304POLR1Gc.62A>C (p.Lys21Thr)
c.68A>C (p.Lys23Thr)
c.20+415A>C
c.-473A>C (n.-473A>C)
19g.45407133A>GCA9514875POLR1Gc.62A>G (p.Lys21Arg)
c.68A>G (p.Lys23Arg)
c.20+415A>G
c.-473A>G (n.-473A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407133A>TCA406345305POLR1Gc.62A>T (p.Lys21Met)
c.68A>T (p.Lys23Met)
c.20+415A>T
c.-473A>T (n.-473A>T)
19g.45407134G>ACA507815821POLR1Gc.63G>A (p.Lys21=)
c.69G>A (p.Lys23=)
c.20+416G>A
c.-472G>A (n.-472G>A)
19g.45407134G>CCA406345306POLR1Gc.63G>C (p.Lys21Asn)
c.69G>C (p.Lys23Asn)
c.20+416G>C
c.-472G>C (n.-472G>C)
19g.45407134G>TCA406345307POLR1Gc.63G>T (p.Lys21Asn)
c.69G>T (p.Lys23Asn)
c.20+416G>T
c.-472G>T (n.-472G>T)
19g.45407135C>ACA406345308POLR1Gc.64C>A (p.Pro22Thr)
c.70C>A (p.Pro24Thr)
c.20+417C>A
c.-471C>A (n.-471C>A)
19g.45407135C=CA2338417223POLR1Gc.64C= (p.Pro22=)
c.70C= (p.Pro24=)
c.20+417C=
c.-471C= (n.-471C=)
19g.45407135C>GCA406345309POLR1Gc.64C>G (p.Pro22Ala)
c.70C>G (p.Pro24Ala)
c.20+417C>G
c.-471C>G (n.-471C>G)
 ClinVar
19g.45407135C>TCA406345310POLR1Gc.64C>T (p.Pro22Ser)
c.70C>T (p.Pro24Ser)
c.20+417C>T
c.-471C>T (n.-471C>T)
 dbSNP gnomAD v2
19g.45407139delCA2585795799POLR1Gc.68del (p.Pro23GlnfsTer13)
c.74del (p.Pro25GlnfsTer13)
c.20+421del
c.-467del (n.-467del)
 gnomAD v4
19g.45407136C>ACA406345312POLR1Gc.65C>A (p.Pro22His)
c.71C>A (p.Pro24His)
c.20+418C>A
c.-470C>A (n.-470C>A)
19g.45407136C=CA2338417224POLR1Gc.65C= (p.Pro22=)
c.71C= (p.Pro24=)
c.20+418C=
c.-470C= (n.-470C=)
19g.45407136C>GCA9514876POLR1Gc.65C>G (p.Pro22Arg)
c.71C>G (p.Pro24Arg)
c.20+418C>G
c.-470C>G (n.-470C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407136C>TCA406345311POLR1Gc.65C>T (p.Pro22Leu)
c.71C>T (p.Pro24Leu)
c.20+418C>T
c.-470C>T (n.-470C>T)
 gnomAD v4
19g.45407137C>ACA507815850POLR1Gc.66C>A (p.Pro22=)
c.72C>A (p.Pro24=)
c.20+419C>A
c.-469C>A (n.-469C>A)
19g.45407137C=CA2338417225POLR1Gc.66C= (p.Pro22=)
c.72C= (p.Pro24=)
c.20+419C=
c.-469C= (n.-469C=)
19g.45407137C>GCA507815853POLR1Gc.66C>G (p.Pro22=)
c.72C>G (p.Pro24=)
c.20+419C>G
c.-469C>G (n.-469C>G)
19g.45407137C>TCA9514877POLR1Gc.66C>T (p.Pro22=)
c.72C>T (p.Pro24=)
c.20+419C>T
c.-469C>T (n.-469C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407138C>ACA406345313POLR1Gc.67C>A (p.Pro23Thr)
c.73C>A (p.Pro25Thr)
c.20+420C>A
c.-468C>A (n.-468C>A)
19g.45407138C=CA2338417226POLR1Gc.67C= (p.Pro23=)
c.73C= (p.Pro25=)
c.20+420C=
c.-468C= (n.-468C=)
19g.45407138C>GCA406345314POLR1Gc.67C>G (p.Pro23Ala)
c.73C>G (p.Pro25Ala)
c.20+420C>G
c.-468C>G (n.-468C>G)
19g.45407138C>TCA406345315POLR1Gc.67C>T (p.Pro23Ser)
c.73C>T (p.Pro25Ser)
c.20+420C>T
c.-468C>T (n.-468C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407139C>ACA406345316POLR1Gc.68C>A (p.Pro23Gln)
c.74C>A (p.Pro25Gln)
c.20+421C>A
c.-467C>A (n.-467C>A)
19g.45407139C>GCA406345317POLR1Gc.68C>G (p.Pro23Arg)
c.74C>G (p.Pro25Arg)
c.20+421C>G
c.-467C>G (n.-467C>G)
19g.45407139C>TCA406345318POLR1Gc.68C>T (p.Pro23Leu)
c.74C>T (p.Pro25Leu)
c.20+421C>T
c.-467C>T (n.-467C>T)
 gnomAD v4
19g.45407140A>CCA507815877POLR1Gc.69A>C (p.Pro23=)
c.75A>C (p.Pro25=)
c.20+422A>C
c.-466A>C (n.-466A>C)
19g.45407140A>GCA507815873POLR1Gc.69A>G (p.Pro23=)
c.75A>G (p.Pro25=)
c.20+422A>G
c.-466A>G (n.-466A>G)
19g.45407140A>TCA507815874POLR1Gc.69A>T (p.Pro23=)
c.75A>T (p.Pro25=)
c.20+422A>T
c.-466A>T (n.-466A>T)
19g.45407141G>ACA406345319POLR1Gc.70G>A (p.Ala24Thr)
c.76G>A (p.Ala26Thr)
c.20+423G>A
c.-465G>A (n.-465G>A)
 gnomAD v4
19g.45407141G>CCA406345320POLR1Gc.70G>C (p.Ala24Pro)
c.76G>C (p.Ala26Pro)
c.20+423G>C
c.-465G>C (n.-465G>C)
19g.45407141G>TCA406345321POLR1Gc.70G>T (p.Ala24Ser)
c.76G>T (p.Ala26Ser)
c.20+423G>T
c.-465G>T (n.-465G>T)
19g.45407142C>ACA406345323POLR1Gc.71C>A (p.Ala24Asp)
c.77C>A (p.Ala26Asp)
c.20+424C>A
c.-464C>A (n.-464C>A)
 gnomAD v4
19g.45407142C>GCA406345324POLR1Gc.71C>G (p.Ala24Gly)
c.77C>G (p.Ala26Gly)
c.20+424C>G
c.-464C>G (n.-464C>G)
 gnomAD v4
19g.45407142C>TCA406345322POLR1Gc.71C>T (p.Ala24Val)
c.77C>T (p.Ala26Val)
c.20+424C>T
c.-464C>T (n.-464C>T)
 dbSNP gnomAD v4
19g.45407143C>ACA507815900POLR1Gc.72C>A (p.Ala24=)
c.78C>A (p.Ala26=)
c.20+425C>A
c.-463C>A (n.-463C>A)
19g.45407143C>GCA507815903POLR1Gc.72C>G (p.Ala24=)
c.78C>G (p.Ala26=)
c.20+425C>G
c.-463C>G (n.-463C>G)
19g.45407143C>TCA507815907POLR1Gc.72C>T (p.Ala24=)
c.78C>T (p.Ala26=)
c.20+425C>T
c.-463C>T (n.-463C>T)
19g.45407144T>ACA406345325POLR1Gc.73T>A (p.Ser25Thr)
c.79T>A (p.Ser27Thr)
c.20+426T>A
c.-462T>A (n.-462T>A)
19g.45407144T>CCA406345326POLR1Gc.73T>C (p.Ser25Pro)
c.79T>C (p.Ser27Pro)
c.20+426T>C
c.-462T>C (n.-462T>C)
19g.45407144T>GCA406345327POLR1Gc.73T>G (p.Ser25Ala)
c.79T>G (p.Ser27Ala)
c.20+426T>G
c.-462T>G (n.-462T>G)
 gnomAD v4
19g.45407145C>ACA406345328POLR1Gc.74C>A (p.Ser25Ter)
c.80C>A (p.Ser27Ter)
c.20+427C>A
c.-461C>A (n.-461C>A)
19g.45407145C=CA2338417227POLR1Gc.74C= (p.Ser25=)
c.80C= (p.Ser27=)
c.20+427C=
c.-461C= (n.-461C=)
19g.45407145C>GCA406345329POLR1Gc.74C>G (p.Ser25Ter)
c.80C>G (p.Ser27Ter)
c.20+427C>G
c.-461C>G (n.-461C>G)
19g.45407145C>TCA406345330POLR1Gc.74C>T (p.Ser25Leu)
c.80C>T (p.Ser27Leu)
c.20+427C>T
c.-461C>T (n.-461C>T)
 gnomAD v4
19g.45407146A>CCA507815930POLR1Gc.75A>C (p.Ser25=)
c.81A>C (p.Ser27=)
c.20+428A>C
c.-460A>C (n.-460A>C)
19g.45407146A>GCA507815932POLR1Gc.75A>G (p.Ser25=)
c.81A>G (p.Ser27=)
c.20+428A>G
c.-460A>G (n.-460A>G)
19g.45407146A>TCA507815935POLR1Gc.75A>T (p.Ser25=)
c.81A>T (p.Ser27=)
c.20+428A>T
c.-460A>T (n.-460A>T)
 gnomAD v4
19g.45407146dupCA9514878POLR1Gc.75dup (p.Glu26ArgfsTer?)
c.81dup (p.Glu28ArgfsTer?)
c.20+428dup
c.-460dup (n.-460dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407147G>ACA406345331POLR1Gc.76G>A (p.Glu26Lys)
c.82G>A (p.Glu28Lys)
c.20+429G>A
c.-459G>A (n.-459G>A)
19g.45407147G>CCA9514879POLR1Gc.76G>C (p.Glu26Gln)
c.82G>C (p.Glu28Gln)
c.20+429G>C
c.-459G>C (n.-459G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407147G=CA2338417228POLR1Gc.76G= (p.Glu26=)
c.82G= (p.Glu28=)
c.20+429G=
c.-459G= (n.-459G=)
19g.45407147G>TCA406345332POLR1Gc.76G>T (p.Glu26Ter)
c.82G>T (p.Glu28Ter)
c.20+429G>T
c.-459G>T (n.-459G>T)

Number of alleles fetched