Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.45407049C>A | CA657248981 | POLR1G | c.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 |
19 | g.45407049C>T | CA2576817081 | POLR1G | c.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 |
19 | g.45407050C= | CA2338417176 | POLR1G | c.23-44C= (n.23-44C=) c.29-44C= (n.29-44C=) c.20+332C= c.-556C= (n.-556C=) | |
19 | g.45407050C>G | CA9514857 | POLR1G | c.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 |
19 | g.45407051G>A | CA2338417178 | POLR1G | c.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 |
19 | g.45407051G= | CA2338417177 | POLR1G | c.23-43G= (n.23-43G=) c.29-43G= (n.29-43G=) c.20+333G= c.-555G= (n.-555G=) | |
19 | g.45407052G>A | CA2585795782 | POLR1G | c.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 |
19 | g.45407053C= | CA2338417179 | POLR1G | c.23-41C= (n.23-41C=) c.29-41C= (n.29-41C=) c.20+335C= c.-553C= (n.-553C=) | |
19 | g.45407053C>T | CA2338417180 | POLR1G | c.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 |
19 | g.45407054A>C | CA2585795783 | POLR1G | c.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 |
19 | g.45407054_45407057delinsAAGG | CA2338417181 | POLR1G | c.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) | |
19 | g.45407055A>G | CA2585795784 | POLR1G | c.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 |
19 | g.45407058_45407060del | CA633334869 | POLR1G | c.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 |
19 | g.45407056G>C | CA2338417182 | POLR1G | c.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 |
19 | g.45407056G= | CA2338417183 | POLR1G | c.23-38G= (n.23-38G=) c.29-38G= (n.29-38G=) c.20+338G= c.-550G= (n.-550G=) | |
19 | g.45407057G>A | CA996308538 | POLR1G | c.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 |
19 | g.45407057G= | CA2338417184 | POLR1G | c.23-37G= (n.23-37G=) c.29-37G= (n.29-37G=) c.20+339G= c.-549G= (n.-549G=) | |
19 | g.45407058A>T | CA2585795785 | POLR1G | c.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 |
19 | g.45407059G>A | CA2735987511 | POLR1G | c.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 |
19 | g.45407060G>A | CA633334870 | POLR1G | c.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 |
19 | g.45407060G>C | CA633334871 | POLR1G | c.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 |
19 | g.45407060G= | CA2338417185 | POLR1G | c.23-34G= (n.23-34G=) c.29-34G= (n.29-34G=) c.20+342G= c.-546G= (n.-546G=) | |
19 | g.45407060G>T | CA2576817082 | POLR1G | c.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) | |
19 | g.45407061T>C | CA2585795786 | POLR1G | c.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 |
19 | g.45407061_45407064dup | CA882712563 | POLR1G | c.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 |
19 | g.45407062G>A | CA9514858 | POLR1G | c.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 |
19 | g.45407062G= | CA2338417186 | POLR1G | c.23-32G= (n.23-32G=) c.29-32G= (n.29-32G=) c.20+344G= c.-544G= (n.-544G=) | |
19 | g.45407064C>A | CA2585795787 | POLR1G | c.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 |
19 | g.45407064C>T | CA2814550845 | POLR1G | c.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) | |
19 | g.45407066G>A | CA2585795788 | POLR1G | c.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 |
19 | g.45407068C>A | CA2585795789 | POLR1G | c.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 |
19 | g.45407068C= | CA2338417187 | POLR1G | c.23-26C= (n.23-26C=) c.29-26C= (n.29-26C=) c.20+350C= c.-538C= (n.-538C=) | |
19 | g.45407068C>G | CA9514859 | POLR1G | c.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 |
19 | g.45407071C= | CA2338417188 | POLR1G | c.23-23C= (n.23-23C=) c.29-23C= (n.29-23C=) c.20+353C= c.-535C= (n.-535C=) | |
19 | g.45407071C>T | CA2338417189 | POLR1G | c.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 |
19 | g.45407074del | CA2585795790 | POLR1G | c.23-20del (n.23-20del) c.29-20del (n.29-20del) c.20+356del c.-532del (n.-532del) | gnomAD v4 |
19 | g.45407073C>G | CA2585795791 | POLR1G | c.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 |
19 | g.45407074C>A | CA9514860 | POLR1G | c.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 |
19 | g.45407074C= | CA2338417190 | POLR1G | c.23-20C= (n.23-20C=) c.29-20C= (n.29-20C=) c.20+356C= c.-532C= (n.-532C=) | |
19 | g.45407075A= | CA2338417191 | POLR1G | c.23-19A= (n.23-19A=) c.29-19A= (n.29-19A=) c.20+357A= c.-531A= (n.-531A=) | |
19 | g.45407075A>C | CA996308545 | POLR1G | c.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 |
19 | g.45407075A>T | CA2585795792 | POLR1G | c.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 |
19 | g.45407076T>C | CA2585795793 | POLR1G | c.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 |
19 | g.45407078T>C | CA2585795794 | POLR1G | c.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 |
19 | g.45407079C= | CA2338417192 | POLR1G | c.23-15C= (n.23-15C=) c.29-15C= (n.29-15C=) c.20+361C= c.-527C= (n.-527C=) | |
19 | g.45407079C>T | CA633334872 | POLR1G | c.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 |
19 | g.45407080C>T | CA2585795795 | POLR1G | c.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 |
19 | g.45407081C= | CA2338417193 | POLR1G | c.23-13C= (n.23-13C=) c.29-13C= (n.29-13C=) c.20+363C= c.-525C= (n.-525C=) | |
19 | g.45407081C>T | CA882712570 | POLR1G | c.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 |
19 | g.45407082C>T | CA2585795796 | POLR1G | c.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 |
19 | g.45407083T>A | CA2735987513 | POLR1G | c.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 |
19 | g.45407083T>G | CA2585795797 | POLR1G | c.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 |
19 | g.45407084T>C | CA633334873 | POLR1G | c.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 |
19 | g.45407084T= | CA2338417194 | POLR1G | c.23-10T= (n.23-10T=) c.29-10T= (n.29-10T=) c.20+366T= c.-522T= (n.-522T=) | |
19 | g.45407087G>A | CA9514861 | POLR1G | c.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 |
19 | g.45407087G= | CA2338417195 | POLR1G | c.23-7G= (n.23-7G=) c.29-7G= (n.29-7G=) c.20+369G= c.-519G= (n.-519G=) | |
19 | g.45407089T>A | CA2735987532 | POLR1G | c.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 |
19 | g.45407090G>A | CA2576817083 | POLR1G | c.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 |
19 | g.45407090G= | CA2338417196 | POLR1G | c.23-4G= (n.23-4G=) c.29-4G= (n.29-4G=) c.20+372G= c.-516G= (n.-516G=) | |
19 | g.45407090G>T | CA2338417197 | POLR1G | c.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 |
19 | g.45407091C= | CA2338417198 | POLR1G | c.23-3C= (n.23-3C=) c.29-3C= (n.29-3C=) c.20+373C= c.-515C= (n.-515C=) | |
19 | g.45407091C>T | CA633334874 | POLR1G | c.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 |
19 | g.45407092A>C | CA406345223 | POLR1G | c.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) | |
19 | g.45407092A>G | CA406345224 | POLR1G | c.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) | |
19 | g.45407092A>T | CA406345225 | POLR1G | c.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) | |
19 | g.45407093G>A | CA406345226 | POLR1G | c.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) | |
19 | g.45407093G>C | CA406345227 | POLR1G | c.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) | |
19 | g.45407093G>T | CA406345228 | POLR1G | c.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) | |
19 | g.45407094A>C | CA406345231 | POLR1G | c.23A>C (p.Asp8Ala) c.29A>C (p.Asp10Ala) c.20+376A>C c.-512A>C (n.-512A>C) | |
19 | g.45407094A>G | CA406345230 | POLR1G | c.23A>G (p.Asp8Gly) c.29A>G (p.Asp10Gly) c.20+376A>G c.-512A>G (n.-512A>G) | |
19 | g.45407094A>T | CA406345229 | POLR1G | c.23A>T (p.Asp8Val) c.29A>T (p.Asp10Val) c.20+376A>T c.-512A>T (n.-512A>T) | |
19 | g.45407094_45407097delinsATGC | CA2338417199 | POLR1G | c.23_26delinsATGC (p.Asp8=) c.29_32delinsATGC (p.Asp10=) c.20+376_20+379delinsATGC c.-512_-509delinsATGC (n.-512_-509delinsATGC) | |
19 | g.45407095T>A | CA406345232 | POLR1G | c.24T>A (p.Asp8Glu) c.30T>A (p.Asp10Glu) c.20+377T>A c.-511T>A (n.-511T>A) | |
19 | g.45407095T>C | CA9514862 | POLR1G | c.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 |
19 | g.45407095T>G | CA406345233 | POLR1G | c.24T>G (p.Asp8Glu) c.30T>G (p.Asp10Glu) c.20+377T>G c.-511T>G (n.-511T>G) | |
19 | g.45407095T= | CA2338417200 | POLR1G | c.24T= (p.Asp8=) c.30T= (p.Asp10=) c.20+377T= c.-511T= (n.-511T=) | |
19 | g.45407099_45407101del | CA882712586 | POLR1G | c.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 |
19 | g.45407096G>A | CA308937363 | POLR1G | c.25G>A (p.Ala9Thr) c.31G>A (p.Ala11Thr) c.20+378G>A c.-510G>A (n.-510G>A) | dbSNP |
19 | g.45407096G>C | CA406345234 | POLR1G | c.25G>C (p.Ala9Pro) c.31G>C (p.Ala11Pro) c.20+378G>C c.-510G>C (n.-510G>C) | |
19 | g.45407096G= | CA2338417201 | POLR1G | c.25G= (p.Ala9=) c.31G= (p.Ala11=) c.20+378G= c.-510G= (n.-510G=) | |
19 | g.45407096G>T | CA406345235 | POLR1G | c.25G>T (p.Ala9Ser) c.31G>T (p.Ala11Ser) c.20+378G>T c.-510G>T (n.-510G>T) | |
19 | g.45407097C>A | CA406345236 | POLR1G | c.26C>A (p.Ala9Asp) c.32C>A (p.Ala11Asp) c.20+379C>A c.-509C>A (n.-509C>A) | |
19 | g.45407097C>G | CA406345237 | POLR1G | c.26C>G (p.Ala9Gly) c.32C>G (p.Ala11Gly) c.20+379C>G c.-509C>G (n.-509C>G) | gnomAD v4 |
19 | g.45407097C>T | CA406345238 | POLR1G | c.26C>T (p.Ala9Val) c.32C>T (p.Ala11Val) c.20+379C>T c.-509C>T (n.-509C>T) | |
19 | g.45407098T>A | CA507815581 | POLR1G | c.27T>A (p.Ala9=) c.33T>A (p.Ala11=) c.20+380T>A c.-508T>A (n.-508T>A) | |
19 | g.45407098T>C | CA507815576 | POLR1G | c.27T>C (p.Ala9=) c.33T>C (p.Ala11=) c.20+380T>C c.-508T>C (n.-508T>C) | |
19 | g.45407098T>G | CA507815579 | POLR1G | c.27T>G (p.Ala9=) c.33T>G (p.Ala11=) c.20+380T>G c.-508T>G (n.-508T>G) | |
19 | g.45407099G>A | CA406345239 | POLR1G | c.28G>A (p.Ala10Thr) c.34G>A (p.Ala12Thr) c.20+381G>A c.-507G>A (n.-507G>A) | dbSNP |
19 | g.45407099G>C | CA406345240 | POLR1G | c.28G>C (p.Ala10Pro) c.34G>C (p.Ala12Pro) c.20+381G>C c.-507G>C (n.-507G>C) | gnomAD v4 |
19 | g.45407099G= | CA2338417202 | POLR1G | c.28G= (p.Ala10=) c.34G= (p.Ala12=) c.20+381G= c.-507G= (n.-507G=) | |
19 | g.45407099G>T | CA406345241 | POLR1G | c.28G>T (p.Ala10Ser) c.34G>T (p.Ala12Ser) c.20+381G>T c.-507G>T (n.-507G>T) | |
19 | g.45407100C>A | CA406345242 | POLR1G | c.29C>A (p.Ala10Asp) c.35C>A (p.Ala12Asp) c.20+382C>A c.-506C>A (n.-506C>A) | |
19 | g.45407100C>G | CA406345244 | POLR1G | c.29C>G (p.Ala10Gly) c.35C>G (p.Ala12Gly) c.20+382C>G c.-506C>G (n.-506C>G) | |
19 | g.45407100C>T | CA406345243 | POLR1G | c.29C>T (p.Ala10Val) c.35C>T (p.Ala12Val) c.20+382C>T c.-506C>T (n.-506C>T) | |
19 | g.45407101T>A | CA507815591 | POLR1G | c.30T>A (p.Ala10=) c.36T>A (p.Ala12=) c.20+383T>A c.-505T>A (n.-505T>A) | |
19 | g.45407101T>C | CA507815594 | POLR1G | c.30T>C (p.Ala10=) c.36T>C (p.Ala12=) c.20+383T>C c.-505T>C (n.-505T>C) | |
19 | g.45407101T>G | CA507815596 | POLR1G | c.30T>G (p.Ala10=) c.36T>G (p.Ala12=) c.20+383T>G c.-505T>G (n.-505T>G) | |
19 | g.45407102C>A | CA507815600 | POLR1G | c.31C>A (p.Arg11=) c.37C>A (p.Arg13=) c.20+384C>A c.-504C>A (n.-504C>A) | dbSNP gnomAD v4 |
19 | g.45407102C= | CA2338417203 | POLR1G | c.31C= (p.Arg11=) c.37C= (p.Arg13=) c.20+384C= c.-504C= (n.-504C=) | |
19 | g.45407102C>G | CA406345245 | POLR1G | c.31C>G (p.Arg11Gly) c.37C>G (p.Arg13Gly) c.20+384C>G c.-504C>G (n.-504C>G) | |
19 | g.45407102C>T | CA9514863 | POLR1G | c.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 |
19 | g.45407103G>A | CA9514864 | POLR1G | c.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 |
19 | g.45407103G>C | CA406345246 | POLR1G | c.32G>C (p.Arg11Pro) c.38G>C (p.Arg13Pro) c.20+385G>C c.-503G>C (n.-503G>C) | |
19 | g.45407103G= | CA2338417204 | POLR1G | c.32G= (p.Arg11=) c.38G= (p.Arg13=) c.20+385G= c.-503G= (n.-503G=) | |
19 | g.45407103G>T | CA9514865 | POLR1G | c.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 |
19 | g.45407104G>A | CA507815632 | POLR1G | c.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 |
19 | g.45407104G>C | CA507815626 | POLR1G | c.33G>C (p.Arg11=) c.39G>C (p.Arg13=) c.20+386G>C c.-502G>C (n.-502G>C) | |
19 | g.45407104G= | CA2338417205 | POLR1G | c.33G= (p.Arg11=) c.39G= (p.Arg13=) c.20+386G= c.-502G= (n.-502G=) | |
19 | g.45407104G>T | CA507815629 | POLR1G | c.33G>T (p.Arg11=) c.39G>T (p.Arg13=) c.20+386G>T c.-502G>T (n.-502G>T) | |
19 | g.45407105T>A | CA406345247 | POLR1G | c.34T>A (p.Phe12Ile) c.40T>A (p.Phe14Ile) c.20+387T>A c.-501T>A (n.-501T>A) | |
19 | g.45407105T>C | CA406345248 | POLR1G | c.34T>C (p.Phe12Leu) c.40T>C (p.Phe14Leu) c.20+387T>C c.-501T>C (n.-501T>C) | |
19 | g.45407105T>G | CA406345249 | POLR1G | c.34T>G (p.Phe12Val) c.40T>G (p.Phe14Val) c.20+387T>G c.-501T>G (n.-501T>G) | |
19 | g.45407106T>A | CA406345250 | POLR1G | c.35T>A (p.Phe12Tyr) c.41T>A (p.Phe14Tyr) c.20+388T>A c.-500T>A (n.-500T>A) | |
19 | g.45407106T>C | CA406345251 | POLR1G | c.35T>C (p.Phe12Ser) c.41T>C (p.Phe14Ser) c.20+388T>C c.-500T>C (n.-500T>C) | ClinVar gnomAD v4 |
19 | g.45407106T>G | CA406345252 | POLR1G | c.35T>G (p.Phe12Cys) c.41T>G (p.Phe14Cys) c.20+388T>G c.-500T>G (n.-500T>G) | |
19 | g.45407106_45407109delinsTCTC | CA2338417206 | POLR1G | c.35_38delinsTCTC (p.Phe12=) c.41_44delinsTCTC (p.Phe14=) c.20+388_20+391delinsTCTC c.-500_-497delinsTCTC (n.-500_-497delinsTCTC) | |
19 | g.45407109_45407110del | CA2576817084 | POLR1G | c.38_39del (p.Ser13LeufsTer?) c.44_45del (p.Ser15LeufsTer?) c.20+391_20+392del c.-497_-496del (n.-497_-496del) | gnomAD v4 |
19 | g.45407107C>A | CA9514868 | POLR1G | c.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 |
19 | g.45407107C= | CA2338417207 | POLR1G | c.36C= (p.Phe12=) c.42C= (p.Phe14=) c.20+389C= c.-499C= (n.-499C=) | |
19 | g.45407107C>G | CA9514867 | POLR1G | c.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 |
19 | g.45407107C>T | CA507815650 | POLR1G | c.36C>T (p.Phe12=) c.42C>T (p.Phe14=) c.20+389C>T c.-499C>T (n.-499C>T) | |
19 | g.45407107_45407109del | CA9514866 | POLR1G | c.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 |
19 | g.45407108T>A | CA406345255 | POLR1G | c.37T>A (p.Ser13Thr) c.43T>A (p.Ser15Thr) c.20+390T>A c.-498T>A (n.-498T>A) | |
19 | g.45407108T>C | CA406345253 | POLR1G | c.37T>C (p.Ser13Pro) c.43T>C (p.Ser15Pro) c.20+390T>C c.-498T>C (n.-498T>C) | |
19 | g.45407108T>G | CA406345254 | POLR1G | c.37T>G (p.Ser13Ala) c.43T>G (p.Ser15Ala) c.20+390T>G c.-498T>G (n.-498T>G) | |
19 | g.45407109C>A | CA406345256 | POLR1G | c.38C>A (p.Ser13Tyr) c.44C>A (p.Ser15Tyr) c.20+391C>A c.-497C>A (n.-497C>A) | |
19 | g.45407109C= | CA2338417208 | POLR1G | c.38C= (p.Ser13=) c.44C= (p.Ser15=) c.20+391C= c.-497C= (n.-497C=) | |
19 | g.45407109C>G | CA406345257 | POLR1G | c.38C>G (p.Ser13Cys) c.44C>G (p.Ser15Cys) c.20+391C>G c.-497C>G (n.-497C>G) | COSMIC |
19 | g.45407109C>T | CA9514869 | POLR1G | c.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 |
19 | g.45407110T>A | CA507815663 | POLR1G | c.39T>A (p.Ser13=) c.45T>A (p.Ser15=) c.20+392T>A c.-496T>A (n.-496T>A) | |
19 | g.45407110T>C | CA507815665 | POLR1G | c.39T>C (p.Ser13=) c.45T>C (p.Ser15=) c.20+392T>C c.-496T>C (n.-496T>C) | |
19 | g.45407110T>G | CA507815666 | POLR1G | c.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 |
19 | g.45407110T= | CA2338417209 | POLR1G | c.39T= (p.Ser13=) c.45T= (p.Ser15=) c.20+392T= c.-496T= (n.-496T=) | |
19 | g.45407111T>A | CA406345258 | POLR1G | c.40T>A (p.Cys14Ser) c.46T>A (p.Cys16Ser) c.20+393T>A c.-495T>A (n.-495T>A) | |
19 | g.45407111T>C | CA406345259 | POLR1G | c.40T>C (p.Cys14Arg) c.46T>C (p.Cys16Arg) c.20+393T>C c.-495T>C (n.-495T>C) | gnomAD v4 |
19 | g.45407111T>G | CA406345260 | POLR1G | c.40T>G (p.Cys14Gly) c.46T>G (p.Cys16Gly) c.20+393T>G c.-495T>G (n.-495T>G) | |
19 | g.45407112G>A | CA9514870 | POLR1G | c.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 |
19 | g.45407112G>C | CA406345261 | POLR1G | c.41G>C (p.Cys14Ser) c.47G>C (p.Cys16Ser) c.20+394G>C c.-494G>C (n.-494G>C) | |
19 | g.45407112G= | CA2338417210 | POLR1G | c.41G= (p.Cys14=) c.47G= (p.Cys16=) c.20+394G= c.-494G= (n.-494G=) | |
19 | g.45407112G>T | CA406345262 | POLR1G | c.41G>T (p.Cys14Phe) c.47G>T (p.Cys16Phe) c.20+394G>T c.-494G>T (n.-494G>T) | |
19 | g.45407113T>A | CA406345263 | POLR1G | c.42T>A (p.Cys14Ter) c.48T>A (p.Cys16Ter) c.20+395T>A c.-493T>A (n.-493T>A) | |
19 | g.45407113T>C | CA507815689 | POLR1G | c.42T>C (p.Cys14=) c.48T>C (p.Cys16=) c.20+395T>C c.-493T>C (n.-493T>C) | |
19 | g.45407113T>G | CA406345264 | POLR1G | c.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 |
19 | g.45407113T= | CA2338417212 | POLR1G | c.42T= (p.Cys14=) c.48T= (p.Cys16=) c.20+395T= c.-493T= (n.-493T=) | |
19 | g.45407113dup | CA920118538 | POLR1G | c.42dup (p.Pro15SerfsTer?) c.48dup (p.Pro17SerfsTer?) c.20+395dup c.-493dup (n.-493dup) | dbSNP gnomAD v4 |
19 | g.45407113_45407114delinsTC | CA2338417211 | POLR1G | c.42_43delinsTC (p.Cys14=) c.48_49delinsTC (p.Cys16=) c.20+395_20+396delinsTC c.-493_-492delinsTC (n.-493_-492delinsTC) | |
19 | g.45407113_45407114insGGG | CA2573050984 | POLR1G | c.42_43insGGG (p.Cys14_Pro15insGly) c.48_49insGGG (p.Cys16_Pro17insGly) c.20+395_20+396insGGG c.-493_-492insGGG (n.-493_-492insGGG) | |
19 | g.45407114C>A | CA308937430 | POLR1G | c.43C>A (p.Pro15Thr) c.49C>A (p.Pro17Thr) c.20+396C>A c.-492C>A (n.-492C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407114C= | CA2338417213 | POLR1G | c.43C= (p.Pro15=) c.49C= (p.Pro17=) c.20+396C= c.-492C= (n.-492C=) | |
19 | g.45407114C>G | CA406345266 | POLR1G | c.43C>G (p.Pro15Ala) c.49C>G (p.Pro17Ala) c.20+396C>G c.-492C>G (n.-492C>G) | |
19 | g.45407114C>T | CA406345265 | POLR1G | c.43C>T (p.Pro15Ser) c.49C>T (p.Pro17Ser) c.20+396C>T c.-492C>T (n.-492C>T) | COSMIC |
19 | g.45407119dup | CA633334875 | POLR1G | c.48dup (p.Asn17GlnfsTer?) c.54dup (p.Asn19GlnfsTer?) c.20+401dup c.-487dup (n.-487dup) | dbSNP gnomAD v2 |
19 | g.45407119del | CA645605412 | POLR1G | c.48del (p.Asn17ThrfsTer19) c.54del (p.Asn19ThrfsTer19) c.20+401del c.-487del (n.-487del) | dbSNP gnomAD v4 COSMIC |
19 | g.45407115C>A | CA406345267 | POLR1G | c.44C>A (p.Pro15His) c.50C>A (p.Pro17His) c.20+397C>A c.-491C>A (n.-491C>A) | |
19 | g.45407115C= | CA2338417214 | POLR1G | c.44C= (p.Pro15=) c.50C= (p.Pro17=) c.20+397C= c.-491C= (n.-491C=) | |
19 | g.45407115C>G | CA406345268 | POLR1G | c.44C>G (p.Pro15Arg) c.50C>G (p.Pro17Arg) c.20+397C>G c.-491C>G (n.-491C>G) | |
19 | g.45407115C>T | CA406345269 | POLR1G | c.44C>T (p.Pro15Leu) c.50C>T (p.Pro17Leu) c.20+397C>T c.-491C>T (n.-491C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407116C>A | CA507815707 | POLR1G | c.45C>A (p.Pro15=) c.51C>A (p.Pro17=) c.20+398C>A c.-490C>A (n.-490C>A) | |
19 | g.45407116C>G | CA507815710 | POLR1G | c.45C>G (p.Pro15=) c.51C>G (p.Pro17=) c.20+398C>G c.-490C>G (n.-490C>G) | |
19 | g.45407116C>T | CA507815713 | POLR1G | c.45C>T (p.Pro15=) c.51C>T (p.Pro17=) c.20+398C>T c.-490C>T (n.-490C>T) | gnomAD v4 |
19 | g.45407117C>A | CA406345270 | POLR1G | c.46C>A (p.Pro16Thr) c.52C>A (p.Pro18Thr) c.20+399C>A c.-489C>A (n.-489C>A) | |
19 | g.45407117C>G | CA406345271 | POLR1G | c.46C>G (p.Pro16Ala) c.52C>G (p.Pro18Ala) c.20+399C>G c.-489C>G (n.-489C>G) | |
19 | g.45407117C>T | CA406345272 | POLR1G | c.46C>T (p.Pro16Ser) c.52C>T (p.Pro18Ser) c.20+399C>T c.-489C>T (n.-489C>T) | |
19 | g.45407118C>A | CA9514872 | POLR1G | c.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 |
19 | g.45407118C= | CA2338417215 | POLR1G | c.47C= (p.Pro16=) c.53C= (p.Pro18=) c.20+400C= c.-488C= (n.-488C=) | |
19 | g.45407118C>G | CA9514873 | POLR1G | c.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 |
19 | g.45407118C>T | CA406345273 | POLR1G | c.47C>T (p.Pro16Leu) c.53C>T (p.Pro18Leu) c.20+400C>T c.-488C>T (n.-488C>T) | gnomAD v4 |
19 | g.45407118_45407119insG | CA9514871 | POLR1G | c.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 |
19 | g.45407119C>A | CA507815736 | POLR1G | c.48C>A (p.Pro16=) c.54C>A (p.Pro18=) c.20+401C>A c.-487C>A (n.-487C>A) | |
19 | g.45407119C>G | CA507815728 | POLR1G | c.48C>G (p.Pro16=) c.54C>G (p.Pro18=) c.20+401C>G c.-487C>G (n.-487C>G) | gnomAD v4 |
19 | g.45407119C>T | CA507815732 | POLR1G | c.48C>T (p.Pro16=) c.54C>T (p.Pro18=) c.20+401C>T c.-487C>T (n.-487C>T) | |
19 | g.45407120A>C | CA406345274 | POLR1G | c.49A>C (p.Asn17His) c.55A>C (p.Asn19His) c.20+402A>C c.-486A>C (n.-486A>C) | gnomAD v4 |
19 | g.45407120A>G | CA406345275 | POLR1G | c.49A>G (p.Asn17Asp) c.55A>G (p.Asn19Asp) c.20+402A>G c.-486A>G (n.-486A>G) | |
19 | g.45407120A>T | CA406345276 | POLR1G | c.49A>T (p.Asn17Tyr) c.55A>T (p.Asn19Tyr) c.20+402A>T c.-486A>T (n.-486A>T) | |
19 | g.45407121A= | CA2338417216 | POLR1G | c.50A= (p.Asn17=) c.56A= (p.Asn19=) c.20+403A= c.-485A= (n.-485A=) | |
19 | g.45407121A>C | CA308937455 | POLR1G | c.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 |
19 | g.45407121A>G | CA406345278 | POLR1G | c.50A>G (p.Asn17Ser) c.56A>G (p.Asn19Ser) c.20+403A>G c.-485A>G (n.-485A>G) | gnomAD v4 |
19 | g.45407121A>T | CA406345277 | POLR1G | c.50A>T (p.Asn17Ile) c.56A>T (p.Asn19Ile) c.20+403A>T c.-485A>T (n.-485A>T) | |
19 | g.45407122C>A | CA406345279 | POLR1G | c.51C>A (p.Asn17Lys) c.57C>A (p.Asn19Lys) c.20+404C>A c.-484C>A (n.-484C>A) | |
19 | g.45407122C>G | CA406345280 | POLR1G | c.51C>G (p.Asn17Lys) c.57C>G (p.Asn19Lys) c.20+404C>G c.-484C>G (n.-484C>G) | |
19 | g.45407122C>T | CA507815751 | POLR1G | c.51C>T (p.Asn17=) c.57C>T (p.Asn19=) c.20+404C>T c.-484C>T (n.-484C>T) | |
19 | g.45407123T>A | CA406345281 | POLR1G | c.52T>A (p.Phe18Ile) c.58T>A (p.Phe20Ile) c.20+405T>A c.-483T>A (n.-483T>A) | |
19 | g.45407123T>C | CA406345282 | POLR1G | c.52T>C (p.Phe18Leu) c.58T>C (p.Phe20Leu) c.20+405T>C c.-483T>C (n.-483T>C) | dbSNP gnomAD v4 |
19 | g.45407123T>G | CA406345283 | POLR1G | c.52T>G (p.Phe18Val) c.58T>G (p.Phe20Val) c.20+405T>G c.-483T>G (n.-483T>G) | |
19 | g.45407123T= | CA2338417217 | POLR1G | c.52T= (p.Phe18=) c.58T= (p.Phe20=) c.20+405T= c.-483T= (n.-483T=) | |
19 | g.45407124T>A | CA406345284 | POLR1G | c.53T>A (p.Phe18Tyr) c.59T>A (p.Phe20Tyr) c.20+406T>A c.-482T>A (n.-482T>A) | |
19 | g.45407124T>C | CA406345285 | POLR1G | c.53T>C (p.Phe18Ser) c.59T>C (p.Phe20Ser) c.20+406T>C c.-482T>C (n.-482T>C) | |
19 | g.45407124T>G | CA406345286 | POLR1G | c.53T>G (p.Phe18Cys) c.59T>G (p.Phe20Cys) c.20+406T>G c.-482T>G (n.-482T>G) | |
19 | g.45407125T>A | CA406345287 | POLR1G | c.54T>A (p.Phe18Leu) c.60T>A (p.Phe20Leu) c.20+407T>A c.-481T>A (n.-481T>A) | |
19 | g.45407125T>C | CA308937460 | POLR1G | c.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 |
19 | g.45407125T>G | CA406345288 | POLR1G | c.54T>G (p.Phe18Leu) c.60T>G (p.Phe20Leu) c.20+407T>G c.-481T>G (n.-481T>G) | |
19 | g.45407125T= | CA2338417218 | POLR1G | c.54T= (p.Phe18=) c.60T= (p.Phe20=) c.20+407T= c.-481T= (n.-481T=) | |
19 | g.45407126del | CA2585795798 | POLR1G | c.55del (p.Thr19ProfsTer17) c.61del (p.Thr21ProfsTer17) c.20+408del c.-480del (n.-480del) | gnomAD v4 |
19 | g.45407126A= | CA2338417219 | POLR1G | c.55A= (p.Thr19=) c.61A= (p.Thr21=) c.20+408A= c.-480A= (n.-480A=) | |
19 | g.45407126A>C | CA406345289 | POLR1G | c.55A>C (p.Thr19Pro) c.61A>C (p.Thr21Pro) c.20+408A>C c.-480A>C (n.-480A>C) | |
19 | g.45407126A>G | CA406345290 | POLR1G | c.55A>G (p.Thr19Ala) c.61A>G (p.Thr21Ala) c.20+408A>G c.-480A>G (n.-480A>G) | dbSNP |
19 | g.45407126A>T | CA406345291 | POLR1G | c.55A>T (p.Thr19Ser) c.61A>T (p.Thr21Ser) c.20+408A>T c.-480A>T (n.-480A>T) | |
19 | g.45407127C>A | CA406345293 | POLR1G | c.56C>A (p.Thr19Asn) c.62C>A (p.Thr21Asn) c.20+409C>A c.-479C>A (n.-479C>A) | |
19 | g.45407127C>G | CA406345294 | POLR1G | c.56C>G (p.Thr19Ser) c.62C>G (p.Thr21Ser) c.20+409C>G c.-479C>G (n.-479C>G) | |
19 | g.45407127C>T | CA406345292 | POLR1G | c.56C>T (p.Thr19Ile) c.62C>T (p.Thr21Ile) c.20+409C>T c.-479C>T (n.-479C>T) | |
19 | g.45407128C>A | CA507815779 | POLR1G | c.57C>A (p.Thr19=) c.63C>A (p.Thr21=) c.20+410C>A c.-478C>A (n.-478C>A) | |
19 | g.45407128C= | CA2338417220 | POLR1G | c.57C= (p.Thr19=) c.63C= (p.Thr21=) c.20+410C= c.-478C= (n.-478C=) | |
19 | g.45407128C>G | CA9514874 | POLR1G | c.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 |
19 | g.45407128C>T | CA507815784 | POLR1G | c.57C>T (p.Thr19=) c.63C>T (p.Thr21=) c.20+410C>T c.-478C>T (n.-478C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407129G>A | CA406345296 | POLR1G | c.58G>A (p.Ala20Thr) c.64G>A (p.Ala22Thr) c.20+411G>A c.-477G>A (n.-477G>A) | |
19 | g.45407129G>C | CA406345295 | POLR1G | c.58G>C (p.Ala20Pro) c.64G>C (p.Ala22Pro) c.20+411G>C c.-477G>C (n.-477G>C) | |
19 | g.45407129G= | CA2338417221 | POLR1G | c.58G= (p.Ala20=) c.64G= (p.Ala22=) c.20+411G= c.-477G= (n.-477G=) | |
19 | g.45407129G>T | CA406345297 | POLR1G | c.58G>T (p.Ala20Ser) c.64G>T (p.Ala22Ser) c.20+411G>T c.-477G>T (n.-477G>T) | dbSNP gnomAD v4 |
19 | g.45407130C>A | CA406345298 | POLR1G | c.59C>A (p.Ala20Glu) c.65C>A (p.Ala22Glu) c.20+412C>A c.-476C>A (n.-476C>A) | |
19 | g.45407130C>G | CA406345300 | POLR1G | c.59C>G (p.Ala20Gly) c.65C>G (p.Ala22Gly) c.20+412C>G c.-476C>G (n.-476C>G) | |
19 | g.45407130C>T | CA406345299 | POLR1G | c.59C>T (p.Ala20Val) c.65C>T (p.Ala22Val) c.20+412C>T c.-476C>T (n.-476C>T) | gnomAD v4 |
19 | g.45407131G>A | CA507815797 | POLR1G | c.60G>A (p.Ala20=) c.66G>A (p.Ala22=) c.20+413G>A c.-475G>A (n.-475G>A) | |
19 | g.45407131G>C | CA507815801 | POLR1G | c.60G>C (p.Ala20=) c.66G>C (p.Ala22=) c.20+413G>C c.-475G>C (n.-475G>C) | |
19 | g.45407131G>T | CA507815798 | POLR1G | c.60G>T (p.Ala20=) c.66G>T (p.Ala22=) c.20+413G>T c.-475G>T (n.-475G>T) | |
19 | g.45407132A>C | CA406345301 | POLR1G | c.61A>C (p.Lys21Gln) c.67A>C (p.Lys23Gln) c.20+414A>C c.-474A>C (n.-474A>C) | |
19 | g.45407132A>G | CA406345302 | POLR1G | c.61A>G (p.Lys21Glu) c.67A>G (p.Lys23Glu) c.20+414A>G c.-474A>G (n.-474A>G) | |
19 | g.45407132A>T | CA406345303 | POLR1G | c.61A>T (p.Lys21Ter) c.67A>T (p.Lys23Ter) c.20+414A>T c.-474A>T (n.-474A>T) | |
19 | g.45407133A= | CA2338417222 | POLR1G | c.62A= (p.Lys21=) c.68A= (p.Lys23=) c.20+415A= c.-473A= (n.-473A=) | |
19 | g.45407133A>C | CA406345304 | POLR1G | c.62A>C (p.Lys21Thr) c.68A>C (p.Lys23Thr) c.20+415A>C c.-473A>C (n.-473A>C) | |
19 | g.45407133A>G | CA9514875 | POLR1G | c.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 |
19 | g.45407133A>T | CA406345305 | POLR1G | c.62A>T (p.Lys21Met) c.68A>T (p.Lys23Met) c.20+415A>T c.-473A>T (n.-473A>T) | |
19 | g.45407134G>A | CA507815821 | POLR1G | c.63G>A (p.Lys21=) c.69G>A (p.Lys23=) c.20+416G>A c.-472G>A (n.-472G>A) | |
19 | g.45407134G>C | CA406345306 | POLR1G | c.63G>C (p.Lys21Asn) c.69G>C (p.Lys23Asn) c.20+416G>C c.-472G>C (n.-472G>C) | |
19 | g.45407134G>T | CA406345307 | POLR1G | c.63G>T (p.Lys21Asn) c.69G>T (p.Lys23Asn) c.20+416G>T c.-472G>T (n.-472G>T) | |
19 | g.45407135C>A | CA406345308 | POLR1G | c.64C>A (p.Pro22Thr) c.70C>A (p.Pro24Thr) c.20+417C>A c.-471C>A (n.-471C>A) | |
19 | g.45407135C= | CA2338417223 | POLR1G | c.64C= (p.Pro22=) c.70C= (p.Pro24=) c.20+417C= c.-471C= (n.-471C=) | |
19 | g.45407135C>G | CA406345309 | POLR1G | c.64C>G (p.Pro22Ala) c.70C>G (p.Pro24Ala) c.20+417C>G c.-471C>G (n.-471C>G) | ClinVar |
19 | g.45407135C>T | CA406345310 | POLR1G | c.64C>T (p.Pro22Ser) c.70C>T (p.Pro24Ser) c.20+417C>T c.-471C>T (n.-471C>T) | dbSNP gnomAD v2 |
19 | g.45407139del | CA2585795799 | POLR1G | c.68del (p.Pro23GlnfsTer13) c.74del (p.Pro25GlnfsTer13) c.20+421del c.-467del (n.-467del) | gnomAD v4 |
19 | g.45407136C>A | CA406345312 | POLR1G | c.65C>A (p.Pro22His) c.71C>A (p.Pro24His) c.20+418C>A c.-470C>A (n.-470C>A) | |
19 | g.45407136C= | CA2338417224 | POLR1G | c.65C= (p.Pro22=) c.71C= (p.Pro24=) c.20+418C= c.-470C= (n.-470C=) | |
19 | g.45407136C>G | CA9514876 | POLR1G | c.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 |
19 | g.45407136C>T | CA406345311 | POLR1G | c.65C>T (p.Pro22Leu) c.71C>T (p.Pro24Leu) c.20+418C>T c.-470C>T (n.-470C>T) | gnomAD v4 |
19 | g.45407137C>A | CA507815850 | POLR1G | c.66C>A (p.Pro22=) c.72C>A (p.Pro24=) c.20+419C>A c.-469C>A (n.-469C>A) | |
19 | g.45407137C= | CA2338417225 | POLR1G | c.66C= (p.Pro22=) c.72C= (p.Pro24=) c.20+419C= c.-469C= (n.-469C=) | |
19 | g.45407137C>G | CA507815853 | POLR1G | c.66C>G (p.Pro22=) c.72C>G (p.Pro24=) c.20+419C>G c.-469C>G (n.-469C>G) | |
19 | g.45407137C>T | CA9514877 | POLR1G | c.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 |
19 | g.45407138C>A | CA406345313 | POLR1G | c.67C>A (p.Pro23Thr) c.73C>A (p.Pro25Thr) c.20+420C>A c.-468C>A (n.-468C>A) | |
19 | g.45407138C= | CA2338417226 | POLR1G | c.67C= (p.Pro23=) c.73C= (p.Pro25=) c.20+420C= c.-468C= (n.-468C=) | |
19 | g.45407138C>G | CA406345314 | POLR1G | c.67C>G (p.Pro23Ala) c.73C>G (p.Pro25Ala) c.20+420C>G c.-468C>G (n.-468C>G) | |
19 | g.45407138C>T | CA406345315 | POLR1G | c.67C>T (p.Pro23Ser) c.73C>T (p.Pro25Ser) c.20+420C>T c.-468C>T (n.-468C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407139C>A | CA406345316 | POLR1G | c.68C>A (p.Pro23Gln) c.74C>A (p.Pro25Gln) c.20+421C>A c.-467C>A (n.-467C>A) | |
19 | g.45407139C>G | CA406345317 | POLR1G | c.68C>G (p.Pro23Arg) c.74C>G (p.Pro25Arg) c.20+421C>G c.-467C>G (n.-467C>G) | |
19 | g.45407139C>T | CA406345318 | POLR1G | c.68C>T (p.Pro23Leu) c.74C>T (p.Pro25Leu) c.20+421C>T c.-467C>T (n.-467C>T) | gnomAD v4 |
19 | g.45407140A>C | CA507815877 | POLR1G | c.69A>C (p.Pro23=) c.75A>C (p.Pro25=) c.20+422A>C c.-466A>C (n.-466A>C) | |
19 | g.45407140A>G | CA507815873 | POLR1G | c.69A>G (p.Pro23=) c.75A>G (p.Pro25=) c.20+422A>G c.-466A>G (n.-466A>G) | |
19 | g.45407140A>T | CA507815874 | POLR1G | c.69A>T (p.Pro23=) c.75A>T (p.Pro25=) c.20+422A>T c.-466A>T (n.-466A>T) | |
19 | g.45407141G>A | CA406345319 | POLR1G | c.70G>A (p.Ala24Thr) c.76G>A (p.Ala26Thr) c.20+423G>A c.-465G>A (n.-465G>A) | gnomAD v4 |
19 | g.45407141G>C | CA406345320 | POLR1G | c.70G>C (p.Ala24Pro) c.76G>C (p.Ala26Pro) c.20+423G>C c.-465G>C (n.-465G>C) | |
19 | g.45407141G>T | CA406345321 | POLR1G | c.70G>T (p.Ala24Ser) c.76G>T (p.Ala26Ser) c.20+423G>T c.-465G>T (n.-465G>T) | |
19 | g.45407142C>A | CA406345323 | POLR1G | c.71C>A (p.Ala24Asp) c.77C>A (p.Ala26Asp) c.20+424C>A c.-464C>A (n.-464C>A) | gnomAD v4 |
19 | g.45407142C>G | CA406345324 | POLR1G | c.71C>G (p.Ala24Gly) c.77C>G (p.Ala26Gly) c.20+424C>G c.-464C>G (n.-464C>G) | gnomAD v4 |
19 | g.45407142C>T | CA406345322 | POLR1G | c.71C>T (p.Ala24Val) c.77C>T (p.Ala26Val) c.20+424C>T c.-464C>T (n.-464C>T) | dbSNP gnomAD v4 |
19 | g.45407143C>A | CA507815900 | POLR1G | c.72C>A (p.Ala24=) c.78C>A (p.Ala26=) c.20+425C>A c.-463C>A (n.-463C>A) | |
19 | g.45407143C>G | CA507815903 | POLR1G | c.72C>G (p.Ala24=) c.78C>G (p.Ala26=) c.20+425C>G c.-463C>G (n.-463C>G) | |
19 | g.45407143C>T | CA507815907 | POLR1G | c.72C>T (p.Ala24=) c.78C>T (p.Ala26=) c.20+425C>T c.-463C>T (n.-463C>T) | |
19 | g.45407144T>A | CA406345325 | POLR1G | c.73T>A (p.Ser25Thr) c.79T>A (p.Ser27Thr) c.20+426T>A c.-462T>A (n.-462T>A) | |
19 | g.45407144T>C | CA406345326 | POLR1G | c.73T>C (p.Ser25Pro) c.79T>C (p.Ser27Pro) c.20+426T>C c.-462T>C (n.-462T>C) | |
19 | g.45407144T>G | CA406345327 | POLR1G | c.73T>G (p.Ser25Ala) c.79T>G (p.Ser27Ala) c.20+426T>G c.-462T>G (n.-462T>G) | gnomAD v4 |
19 | g.45407145C>A | CA406345328 | POLR1G | c.74C>A (p.Ser25Ter) c.80C>A (p.Ser27Ter) c.20+427C>A c.-461C>A (n.-461C>A) | |
19 | g.45407145C= | CA2338417227 | POLR1G | c.74C= (p.Ser25=) c.80C= (p.Ser27=) c.20+427C= c.-461C= (n.-461C=) | |
19 | g.45407145C>G | CA406345329 | POLR1G | c.74C>G (p.Ser25Ter) c.80C>G (p.Ser27Ter) c.20+427C>G c.-461C>G (n.-461C>G) | |
19 | g.45407145C>T | CA406345330 | POLR1G | c.74C>T (p.Ser25Leu) c.80C>T (p.Ser27Leu) c.20+427C>T c.-461C>T (n.-461C>T) | gnomAD v4 |
19 | g.45407146A>C | CA507815930 | POLR1G | c.75A>C (p.Ser25=) c.81A>C (p.Ser27=) c.20+428A>C c.-460A>C (n.-460A>C) | |
19 | g.45407146A>G | CA507815932 | POLR1G | c.75A>G (p.Ser25=) c.81A>G (p.Ser27=) c.20+428A>G c.-460A>G (n.-460A>G) | |
19 | g.45407146A>T | CA507815935 | POLR1G | c.75A>T (p.Ser25=) c.81A>T (p.Ser27=) c.20+428A>T c.-460A>T (n.-460A>T) | gnomAD v4 |
19 | g.45407146dup | CA9514878 | POLR1G | c.75dup (p.Glu26ArgfsTer?) c.81dup (p.Glu28ArgfsTer?) c.20+428dup c.-460dup (n.-460dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45407147G>A | CA406345331 | POLR1G | c.76G>A (p.Glu26Lys) c.82G>A (p.Glu28Lys) c.20+429G>A c.-459G>A (n.-459G>A) | |
19 | g.45407147G>C | CA9514879 | POLR1G | c.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 |
19 | g.45407147G= | CA2338417228 | POLR1G | c.76G= (p.Glu26=) c.82G= (p.Glu28=) c.20+429G= c.-459G= (n.-459G=) | |
19 | g.45407147G>T | CA406345332 | POLR1G | c.76G>T (p.Glu26Ter) c.82G>T (p.Glu28Ter) c.20+429G>T c.-459G>T (n.-459G>T) | |
19 | g.45407148A>C | CA406345333 | POLR1G | c.77A>C (p.Glu26Ala) c.83A>C (p.Glu28Ala) c.20+430A>C c.-458A>C (n.-458A>C) | |
19 | g.45407148A>G | CA406345334 | POLR1G | c.77A>G (p.Glu26Gly) c.83A>G (p.Glu28Gly) c.20+430A>G c.-458A>G (n.-458A>G) | |
19 | g.45407148A>T | CA406345335 | POLR1G | c.77A>T (p.Glu26Val) c.83A>T (p.Glu28Val) c.20+430A>T c.-458A>T (n.-458A>T) | |
19 | g.45407149G>A | CA507815957 | POLR1G | c.78G>A (p.Glu26=) c.84G>A (p.Glu28=) c.20+431G>A c.-457G>A (n.-457G>A) | |
19 | g.45407149G>C | CA406345336 | POLR1G | c.78G>C (p.Glu26Asp) c.84G>C (p.Glu28Asp) c.20+431G>C c.-457G>C (n.-457G>C) | |
19 | g.45407149G>T | CA406345337 | POLR1G | c.78G>T (p.Glu26Asp) c.84G>T (p.Glu28Asp) c.20+431G>T c.-457G>T (n.-457G>T) |