Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.45407150T>A | CA406345338 | POLR1G | c.79T>A (p.Ser27Thr) c.85T>A (p.Ser29Thr) c.20+432T>A c.-456T>A (n.-456T>A) | |
19 | g.45407150T>C | CA406345339 | POLR1G | c.79T>C (p.Ser27Pro) c.85T>C (p.Ser29Pro) c.20+432T>C c.-456T>C (n.-456T>C) | gnomAD v4 |
19 | g.45407150T>G | CA406345340 | POLR1G | c.79T>G (p.Ser27Ala) c.85T>G (p.Ser29Ala) c.20+432T>G c.-456T>G (n.-456T>G) | |
19 | g.45407151C>A | CA406345341 | POLR1G | c.80C>A (p.Ser27Tyr) c.86C>A (p.Ser29Tyr) c.20+433C>A c.-455C>A (n.-455C>A) | |
19 | g.45407151C= | CA2338417229 | POLR1G | c.80C= (p.Ser27=) c.86C= (p.Ser29=) c.20+433C= c.-455C= (n.-455C=) | |
19 | g.45407151C>G | CA406345342 | POLR1G | c.80C>G (p.Ser27Cys) c.86C>G (p.Ser29Cys) c.20+433C>G c.-455C>G (n.-455C>G) | |
19 | g.45407151C>T | CA406345343 | POLR1G | c.80C>T (p.Ser27Phe) c.86C>T (p.Ser29Phe) c.20+433C>T c.-455C>T (n.-455C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407152C>A | CA507815981 | POLR1G | c.81C>A (p.Ser27=) c.87C>A (p.Ser29=) c.20+434C>A c.-454C>A (n.-454C>A) | |
19 | g.45407152C= | CA2338417230 | POLR1G | c.81C= (p.Ser27=) c.87C= (p.Ser29=) c.20+434C= c.-454C= (n.-454C=) | |
19 | g.45407152C>G | CA507815982 | POLR1G | c.81C>G (p.Ser27=) c.87C>G (p.Ser29=) c.20+434C>G c.-454C>G (n.-454C>G) | |
19 | g.45407152C>T | CA9514880 | POLR1G | c.81C>T (p.Ser27=) c.87C>T (p.Ser29=) c.20+434C>T c.-454C>T (n.-454C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45407152_45407155delinsCCCT | CA2338417231 | POLR1G | c.81_84delinsCCCT (p.Ser27=) c.87_90delinsCCCT (p.Ser29=) c.20+434_20+437delinsCCCT c.-454_-451delinsCCCT (n.-454_-451delinsCCCT) | |
19 | g.45407153C>A | CA406345344 | POLR1G | c.82C>A (p.Pro28Thr) c.88C>A (p.Pro30Thr) c.20+435C>A c.-453C>A (n.-453C>A) | |
19 | g.45407153C>G | CA406345345 | POLR1G | c.82C>G (p.Pro28Ala) c.88C>G (p.Pro30Ala) c.20+435C>G c.-453C>G (n.-453C>G) | |
19 | g.45407153C>T | CA406345346 | POLR1G | c.82C>T (p.Pro28Ser) c.88C>T (p.Pro30Ser) c.20+435C>T c.-453C>T (n.-453C>T) | COSMIC |
19 | g.45407154_45407156del | CA996308583 | POLR1G | c.83_85del (p.Pro28del) c.89_91del (p.Pro30del) c.20+436_20+438del c.-452_-450del (n.-452_-450del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407154C>A | CA406345347 | POLR1G | c.83C>A (p.Pro28His) c.89C>A (p.Pro30His) c.20+436C>A c.-452C>A (n.-452C>A) | |
19 | g.45407154C>G | CA406345348 | POLR1G | c.83C>G (p.Pro28Arg) c.89C>G (p.Pro30Arg) c.20+436C>G c.-452C>G (n.-452C>G) | |
19 | g.45407154C>T | CA406345349 | POLR1G | c.83C>T (p.Pro28Leu) c.89C>T (p.Pro30Leu) c.20+436C>T c.-452C>T (n.-452C>T) | |
19 | g.45407155T>A | CA507815997 | POLR1G | c.84T>A (p.Pro28=) c.90T>A (p.Pro30=) c.20+437T>A c.-451T>A (n.-451T>A) | |
19 | g.45407155T>C | CA507816004 | POLR1G | c.84T>C (p.Pro28=) c.90T>C (p.Pro30=) c.20+437T>C c.-451T>C (n.-451T>C) | |
19 | g.45407155T>G | CA507815994 | POLR1G | c.84T>G (p.Pro28=) c.90T>G (p.Pro30=) c.20+437T>G c.-451T>G (n.-451T>G) | |
19 | g.45407156C>A | CA308937481 | POLR1G | c.85C>A (p.Arg29Ser) c.91C>A (p.Arg31Ser) c.20+438C>A c.-450C>A (n.-450C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407156C= | CA2338417232 | POLR1G | c.85C= (p.Arg29=) c.91C= (p.Arg31=) c.20+438C= c.-450C= (n.-450C=) | |
19 | g.45407156C>G | CA406345351 | POLR1G | c.85C>G (p.Arg29Gly) c.91C>G (p.Arg31Gly) c.20+438C>G c.-450C>G (n.-450C>G) | |
19 | g.45407156C>T | CA406345350 | POLR1G | c.85C>T (p.Arg29Cys) c.91C>T (p.Arg31Cys) c.20+438C>T c.-450C>T (n.-450C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407157G>A | CA406345354 | POLR1G | c.86G>A (p.Arg29His) c.92G>A (p.Arg31His) c.20+439G>A c.-449G>A (n.-449G>A) | |
19 | g.45407157G>C | CA406345352 | POLR1G | c.86G>C (p.Arg29Pro) c.92G>C (p.Arg31Pro) c.20+439G>C c.-449G>C (n.-449G>C) | gnomAD v4 |
19 | g.45407157G>T | CA406345353 | POLR1G | c.86G>T (p.Arg29Leu) c.92G>T (p.Arg31Leu) c.20+439G>T c.-449G>T (n.-449G>T) | |
19 | g.45407158T>A | CA507816016 | POLR1G | c.87T>A (p.Arg29=) c.93T>A (p.Arg31=) c.20+440T>A c.-448T>A (n.-448T>A) | |
19 | g.45407158T>C | CA507816018 | POLR1G | c.87T>C (p.Arg29=) c.93T>C (p.Arg31=) c.20+440T>C c.-448T>C (n.-448T>C) | |
19 | g.45407158T>G | CA9514881 | POLR1G | c.87T>G (p.Arg29=) c.93T>G (p.Arg31=) c.20+440T>G c.-448T>G (n.-448T>G) | dbSNP ExAC |
19 | g.45407158T= | CA2338417233 | POLR1G | c.87T= (p.Arg29=) c.93T= (p.Arg31=) c.20+440T= c.-448T= (n.-448T=) | |
19 | g.45407159T>A | CA406345355 | POLR1G | c.88T>A (p.Phe30Ile) c.94T>A (p.Phe32Ile) c.20+441T>A c.-447T>A (n.-447T>A) | |
19 | g.45407159T>C | CA406345356 | POLR1G | c.88T>C (p.Phe30Leu) c.94T>C (p.Phe32Leu) c.20+441T>C c.-447T>C (n.-447T>C) | |
19 | g.45407159T>G | CA406345357 | POLR1G | c.88T>G (p.Phe30Val) c.94T>G (p.Phe32Val) c.20+441T>G c.-447T>G (n.-447T>G) | |
19 | g.45407160T>A | CA406345358 | POLR1G | c.89T>A (p.Phe30Tyr) c.95T>A (p.Phe32Tyr) c.20+442T>A c.-446T>A (n.-446T>A) | |
19 | g.45407160T>C | CA406345359 | POLR1G | c.89T>C (p.Phe30Ser) c.95T>C (p.Phe32Ser) c.20+442T>C c.-446T>C (n.-446T>C) | |
19 | g.45407160T>G | CA406345360 | POLR1G | c.89T>G (p.Phe30Cys) c.95T>G (p.Phe32Cys) c.20+442T>G c.-446T>G (n.-446T>G) | |
19 | g.45407161C>A | CA406345361 | POLR1G | c.90C>A (p.Phe30Leu) c.96C>A (p.Phe32Leu) c.20+443C>A c.-445C>A (n.-445C>A) | |
19 | g.45407161C= | CA2338417234 | POLR1G | c.90C= (p.Phe30=) c.96C= (p.Phe32=) c.20+443C= c.-445C= (n.-445C=) | |
19 | g.45407161C>G | CA406345362 | POLR1G | c.90C>G (p.Phe30Leu) c.96C>G (p.Phe32Leu) c.20+443C>G c.-445C>G (n.-445C>G) | dbSNP |
19 | g.45407161C>T | CA507816037 | POLR1G | c.90C>T (p.Phe30=) c.96C>T (p.Phe32=) c.20+443C>T c.-445C>T (n.-445C>T) | gnomAD v4 |
19 | g.45407162T>A | CA406345365 | POLR1G | c.91T>A (p.Ser31Thr) c.97T>A (p.Ser33Thr) c.20+444T>A c.-444T>A (n.-444T>A) | |
19 | g.45407162T>C | CA406345364 | POLR1G | c.91T>C (p.Ser31Pro) c.97T>C (p.Ser33Pro) c.20+444T>C c.-444T>C (n.-444T>C) | |
19 | g.45407162T>G | CA406345363 | POLR1G | c.91T>G (p.Ser31Ala) c.97T>G (p.Ser33Ala) c.20+444T>G c.-444T>G (n.-444T>G) | |
19 | g.45407163C>A | CA406345366 | POLR1G | c.92C>A (p.Ser31Tyr) c.98C>A (p.Ser33Tyr) c.20+445C>A c.-443C>A (n.-443C>A) | |
19 | g.45407163C= | CA2338417235 | POLR1G | c.92C= (p.Ser31=) c.98C= (p.Ser33=) c.20+445C= c.-443C= (n.-443C=) | |
19 | g.45407163C>G | CA406345367 | POLR1G | c.92C>G (p.Ser31Cys) c.98C>G (p.Ser33Cys) c.20+445C>G c.-443C>G (n.-443C>G) | |
19 | g.45407163C>T | CA9514882 | POLR1G | c.92C>T (p.Ser31Phe) c.98C>T (p.Ser33Phe) c.20+445C>T c.-443C>T (n.-443C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45407164C>A | CA507816048 | POLR1G | c.93C>A (p.Ser31=) c.99C>A (p.Ser33=) c.20+446C>A c.-442C>A (n.-442C>A) | gnomAD v4 |
19 | g.45407164C>G | CA507816050 | POLR1G | c.93C>G (p.Ser31=) c.99C>G (p.Ser33=) c.20+446C>G c.-442C>G (n.-442C>G) | |
19 | g.45407164C>T | CA507816051 | POLR1G | c.93C>T (p.Ser31=) c.99C>T (p.Ser33=) c.20+446C>T c.-442C>T (n.-442C>T) | |
19 | g.45407165T>A | CA406345368 | POLR1G | c.94T>A (p.Leu32Met) c.100T>A (p.Leu34Met) c.20+447T>A c.-441T>A (n.-441T>A) | |
19 | g.45407165T>C | CA507816057 | POLR1G | c.94T>C (p.Leu32=) c.100T>C (p.Leu34=) c.20+447T>C c.-441T>C (n.-441T>C) | gnomAD v4 |
19 | g.45407165T>G | CA406345369 | POLR1G | c.94T>G (p.Leu32Val) c.100T>G (p.Leu34Val) c.20+447T>G c.-441T>G (n.-441T>G) | |
19 | g.45407166T>A | CA406345370 | POLR1G | c.95T>A (p.Leu32Ter) c.101T>A (p.Leu34Ter) c.20+448T>A c.-440T>A (n.-440T>A) | |
19 | g.45407166T>C | CA406345371 | POLR1G | c.95T>C (p.Leu32Ser) c.101T>C (p.Leu34Ser) c.20+448T>C c.-440T>C (n.-440T>C) | gnomAD v4 |
19 | g.45407166T>G | CA406345372 | POLR1G | c.95T>G (p.Leu32Trp) c.101T>G (p.Leu34Trp) c.20+448T>G c.-440T>G (n.-440T>G) | |
19 | g.45407167G>A | CA507816070 | POLR1G | c.96G>A (p.Leu32=) c.102G>A (p.Leu34=) c.20+449G>A c.-439G>A (n.-439G>A) | dbSNP |
19 | g.45407167G>C | CA406345373 | POLR1G | c.96G>C (p.Leu32Phe) c.102G>C (p.Leu34Phe) c.20+449G>C c.-439G>C (n.-439G>C) | |
19 | g.45407167G= | CA2338417236 | POLR1G | c.96G= (p.Leu32=) c.102G= (p.Leu34=) c.20+449G= c.-439G= (n.-439G=) | |
19 | g.45407167G>T | CA406345374 | POLR1G | c.96G>T (p.Leu32Phe) c.102G>T (p.Leu34Phe) c.20+449G>T c.-439G>T (n.-439G>T) | |
19 | g.45407168G>A | CA406345375 | POLR1G | c.97G>A (p.Glu33Lys) c.103G>A (p.Glu35Lys) c.20+450G>A c.-438G>A (n.-438G>A) | COSMIC |
19 | g.45407168G>C | CA406345376 | POLR1G | c.97G>C (p.Glu33Gln) c.103G>C (p.Glu35Gln) c.20+450G>C c.-438G>C (n.-438G>C) | |
19 | g.45407168G>T | CA406345377 | POLR1G | c.97G>T (p.Glu33Ter) c.103G>T (p.Glu35Ter) c.20+450G>T c.-438G>T (n.-438G>T) | |
19 | g.45407169A>C | CA406345379 | POLR1G | c.98A>C (p.Glu33Ala) c.104A>C (p.Glu35Ala) c.20+451A>C c.-437A>C (n.-437A>C) | |
19 | g.45407169A>G | CA406345380 | POLR1G | c.98A>G (p.Glu33Gly) c.104A>G (p.Glu35Gly) c.20+451A>G c.-437A>G (n.-437A>G) | gnomAD v4 |
19 | g.45407169A>T | CA406345378 | POLR1G | c.98A>T (p.Glu33Val) c.104A>T (p.Glu35Val) c.20+451A>T c.-437A>T (n.-437A>T) | |
19 | g.45407170G>A | CA507816084 | POLR1G | c.99G>A (p.Glu33=) c.105G>A (p.Glu35=) c.20+452G>A c.-436G>A (n.-436G>A) | |
19 | g.45407170G>C | CA406345381 | POLR1G | c.99G>C (p.Glu33Asp) c.105G>C (p.Glu35Asp) c.20+452G>C c.-436G>C (n.-436G>C) | |
19 | g.45407170G>T | CA406345382 | POLR1G | c.99G>T (p.Glu33Asp) c.105G>T (p.Glu35Asp) c.20+452G>T c.-436G>T (n.-436G>T) | |
19 | g.45407171G>A | CA406345383 | POLR1G | c.100G>A (p.Ala34Thr) c.106G>A (p.Ala36Thr) c.20+453G>A c.-435G>A (n.-435G>A) | |
19 | g.45407171G>C | CA406345384 | POLR1G | c.100G>C (p.Ala34Pro) c.106G>C (p.Ala36Pro) c.20+453G>C c.-435G>C (n.-435G>C) | |
19 | g.45407171G>T | CA406345385 | POLR1G | c.100G>T (p.Ala34Ser) c.106G>T (p.Ala36Ser) c.20+453G>T c.-435G>T (n.-435G>T) | |
19 | g.45407172C>A | CA406345386 | POLR1G | c.101C>A (p.Ala34Glu) c.107C>A (p.Ala36Glu) c.20+454C>A c.-434C>A (n.-434C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407172C= | CA2338417237 | POLR1G | c.101C= (p.Ala34=) c.107C= (p.Ala36=) c.20+454C= c.-434C= (n.-434C=) | |
19 | g.45407172C>G | CA406345387 | POLR1G | c.101C>G (p.Ala34Gly) c.107C>G (p.Ala36Gly) c.20+454C>G c.-434C>G (n.-434C>G) | |
19 | g.45407172C>T | CA9514883 | POLR1G | c.101C>T (p.Ala34Val) c.107C>T (p.Ala36Val) c.20+454C>T c.-434C>T (n.-434C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45407173G>A | CA507816106 | POLR1G | c.102G>A (p.Ala34=) c.108G>A (p.Ala36=) c.20+455G>A c.-433G>A (n.-433G>A) | gnomAD v4 |
19 | g.45407173G>C | CA507816109 | POLR1G | c.102G>C (p.Ala34=) c.108G>C (p.Ala36=) c.20+455G>C c.-433G>C (n.-433G>C) | dbSNP gnomAD v2 |
19 | g.45407173G= | CA2338417238 | POLR1G | c.102G= (p.Ala34=) c.108G= (p.Ala36=) c.20+455G= c.-433G= (n.-433G=) | |
19 | g.45407173G>T | CA507816112 | POLR1G | c.102G>T (p.Ala34=) c.108G>T (p.Ala36=) c.20+455G>T c.-433G>T (n.-433G>T) | |
19 | g.45407174C>A | CA406345388 | POLR1G | c.103C>A (p.Leu35Met) c.109C>A (p.Leu37Met) c.20+456C>A c.-432C>A (n.-432C>A) | |
19 | g.45407174C>G | CA406345389 | POLR1G | c.103C>G (p.Leu35Val) c.109C>G (p.Leu37Val) c.20+456C>G c.-432C>G (n.-432C>G) | |
19 | g.45407174C>T | CA507816118 | POLR1G | c.103C>T (p.Leu35=) c.109C>T (p.Leu37=) c.20+456C>T c.-432C>T (n.-432C>T) | |
19 | g.45407175T>A | CA406345390 | POLR1G | c.104T>A (p.Leu35Gln) c.110T>A (p.Leu37Gln) c.20+457T>A c.-431T>A (n.-431T>A) | |
19 | g.45407175T>C | CA406345391 | POLR1G | c.104T>C (p.Leu35Pro) c.110T>C (p.Leu37Pro) c.20+457T>C c.-431T>C (n.-431T>C) | |
19 | g.45407175T>G | CA406345392 | POLR1G | c.104T>G (p.Leu35Arg) c.110T>G (p.Leu37Arg) c.20+457T>G c.-431T>G (n.-431T>G) | |
19 | g.45407176G>A | CA507816128 | POLR1G | c.105G>A (p.Leu35=) c.111G>A (p.Leu37=) c.20+458G>A c.-430G>A (n.-430G>A) | |
19 | g.45407176G>C | CA507816130 | POLR1G | c.105G>C (p.Leu35=) c.111G>C (p.Leu37=) c.20+458G>C c.-430G>C (n.-430G>C) | gnomAD v4 |
19 | g.45407176G>T | CA507816133 | POLR1G | c.105G>T (p.Leu35=) c.111G>T (p.Leu37=) c.20+458G>T c.-430G>T (n.-430G>T) | |
19 | g.45407177A>C | CA406345395 | POLR1G | c.106A>C (p.Thr36Pro) c.112A>C (p.Thr38Pro) c.20+459A>C c.-429A>C (n.-429A>C) | gnomAD v4 |
19 | g.45407177A>G | CA406345394 | POLR1G | c.106A>G (p.Thr36Ala) c.112A>G (p.Thr38Ala) c.20+459A>G c.-429A>G (n.-429A>G) | |
19 | g.45407177A>T | CA406345393 | POLR1G | c.106A>T (p.Thr36Ser) c.112A>T (p.Thr38Ser) c.20+459A>T c.-429A>T (n.-429A>T) | |
19 | g.45407178C>A | CA406345396 | POLR1G | c.107C>A (p.Thr36Lys) c.113C>A (p.Thr38Lys) c.20+460C>A c.-428C>A (n.-428C>A) | |
19 | g.45407178C= | CA2338417239 | POLR1G | c.107C= (p.Thr36=) c.113C= (p.Thr38=) c.20+460C= c.-428C= (n.-428C=) | |
19 | g.45407178C>G | CA406345397 | POLR1G | c.107C>G (p.Thr36Arg) c.113C>G (p.Thr38Arg) c.20+460C>G c.-428C>G (n.-428C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407178C>T | CA406345398 | POLR1G | c.107C>T (p.Thr36Met) c.113C>T (p.Thr38Met) c.20+460C>T c.-428C>T (n.-428C>T) | |
19 | g.45407179G>A | CA507816153 | POLR1G | c.108G>A (p.Thr36=) c.114G>A (p.Thr38=) c.20+461G>A c.-427G>A (n.-427G>A) | dbSNP |
19 | g.45407179G>C | CA507816156 | POLR1G | c.108G>C (p.Thr36=) c.114G>C (p.Thr38=) c.20+461G>C c.-427G>C (n.-427G>C) | |
19 | g.45407179G= | CA2338417240 | POLR1G | c.108G= (p.Thr36=) c.114G= (p.Thr38=) c.20+461G= c.-427G= (n.-427G=) | |
19 | g.45407179G>T | CA507816158 | POLR1G | c.108G>T (p.Thr36=) c.114G>T (p.Thr38=) c.20+461G>T c.-427G>T (n.-427G>T) | |
19 | g.45407180G>A | CA406345399 | POLR1G | c.109G>A (p.Gly37Ser) c.115G>A (p.Gly39Ser) c.20+462G>A c.-426G>A (n.-426G>A) | gnomAD v4 |
19 | g.45407180G>C | CA9514884 | POLR1G | c.109G>C (p.Gly37Arg) c.115G>C (p.Gly39Arg) c.20+462G>C c.-426G>C (n.-426G>C) | dbSNP ExAC |
19 | g.45407180G= | CA2338417241 | POLR1G | c.109G= (p.Gly37=) c.115G= (p.Gly39=) c.20+462G= c.-426G= (n.-426G=) | |
19 | g.45407180G>T | CA406345400 | POLR1G | c.109G>T (p.Gly37Cys) c.115G>T (p.Gly39Cys) c.20+462G>T c.-426G>T (n.-426G>T) | |
19 | g.45407181G>A | CA406345401 | POLR1G | c.110G>A (p.Gly37Asp) c.116G>A (p.Gly39Asp) c.20+463G>A c.-425G>A (n.-425G>A) | |
19 | g.45407181G>C | CA406345402 | POLR1G | c.110G>C (p.Gly37Ala) c.116G>C (p.Gly39Ala) c.20+463G>C c.-425G>C (n.-425G>C) | |
19 | g.45407181G>T | CA406345403 | POLR1G | c.110G>T (p.Gly37Val) c.116G>T (p.Gly39Val) c.20+463G>T c.-425G>T (n.-425G>T) | |
19 | g.45407182T>A | CA507816177 | POLR1G | c.111T>A (p.Gly37=) c.117T>A (p.Gly39=) c.20+464T>A c.-424T>A (n.-424T>A) | |
19 | g.45407182T>C | CA9514885 | POLR1G | c.111T>C (p.Gly37=) c.117T>C (p.Gly39=) c.20+464T>C c.-424T>C (n.-424T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45407182T>G | CA507816182 | POLR1G | c.111T>G (p.Gly37=) c.117T>G (p.Gly39=) c.20+464T>G c.-424T>G (n.-424T>G) | |
19 | g.45407182T= | CA2338417242 | POLR1G | c.111T= (p.Gly37=) c.117T= (p.Gly39=) c.20+464T= c.-424T= (n.-424T=) | |
19 | g.45407183C>A | CA406345404 | POLR1G | c.112C>A (p.Pro38Thr) c.118C>A (p.Pro40Thr) c.20+465C>A c.-423C>A (n.-423C>A) | gnomAD v4 |
19 | g.45407183C= | CA2338417243 | POLR1G | c.112C= (p.Pro38=) c.118C= (p.Pro40=) c.20+465C= c.-423C= (n.-423C=) | |
19 | g.45407183C>G | CA406345405 | POLR1G | c.112C>G (p.Pro38Ala) c.118C>G (p.Pro40Ala) c.20+465C>G c.-423C>G (n.-423C>G) | |
19 | g.45407183C>T | CA9514886 | POLR1G | c.112C>T (p.Pro38Ser) c.118C>T (p.Pro40Ser) c.20+465C>T c.-423C>T (n.-423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45407184C>A | CA406345408 | POLR1G | c.113C>A (p.Pro38Gln) c.119C>A (p.Pro40Gln) c.20+466C>A c.-422C>A (n.-422C>A) | |
19 | g.45407184C>G | CA406345407 | POLR1G | c.113C>G (p.Pro38Arg) c.119C>G (p.Pro40Arg) c.20+466C>G c.-422C>G (n.-422C>G) | gnomAD v4 |
19 | g.45407184C>T | CA406345406 | POLR1G | c.113C>T (p.Pro38Leu) c.119C>T (p.Pro40Leu) c.20+466C>T c.-422C>T (n.-422C>T) | |
19 | g.45407185A>C | CA507816200 | POLR1G | c.114A>C (p.Pro38=) c.120A>C (p.Pro40=) c.20+467A>C c.-421A>C (n.-421A>C) | |
19 | g.45407185A>G | CA507816196 | POLR1G | c.114A>G (p.Pro38=) c.120A>G (p.Pro40=) c.20+467A>G c.-421A>G (n.-421A>G) | |
19 | g.45407185A>T | CA507816194 | POLR1G | c.114A>T (p.Pro38=) c.120A>T (p.Pro40=) c.20+467A>T c.-421A>T (n.-421A>T) | |
19 | g.45407186G>A | CA406345409 | POLR1G | c.115G>A (p.Asp39Asn) c.121G>A (p.Asp41Asn) c.20+468G>A c.-420G>A (n.-420G>A) | |
19 | g.45407186G>C | CA9514887 | POLR1G | c.115G>C (p.Asp39His) c.121G>C (p.Asp41His) c.20+468G>C c.-420G>C (n.-420G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45407186G= | CA2338417244 | POLR1G | c.115G= (p.Asp39=) c.121G= (p.Asp41=) c.20+468G= c.-420G= (n.-420G=) | |
19 | g.45407186G>T | CA406345410 | POLR1G | c.115G>T (p.Asp39Tyr) c.121G>T (p.Asp41Tyr) c.20+468G>T c.-420G>T (n.-420G>T) | |
19 | g.45407187A>C | CA406345411 | POLR1G | c.116A>C (p.Asp39Ala) c.122A>C (p.Asp41Ala) c.20+469A>C c.-419A>C (n.-419A>C) | |
19 | g.45407187A>G | CA406345413 | POLR1G | c.116A>G (p.Asp39Gly) c.122A>G (p.Asp41Gly) c.20+469A>G c.-419A>G (n.-419A>G) | |
19 | g.45407187A>T | CA406345412 | POLR1G | c.116A>T (p.Asp39Val) c.122A>T (p.Asp41Val) c.20+469A>T c.-419A>T (n.-419A>T) | |
19 | g.45407188T>A | CA406345414 | POLR1G | c.117T>A (p.Asp39Glu) c.123T>A (p.Asp41Glu) c.20+470T>A c.-418T>A (n.-418T>A) | |
19 | g.45407188T>C | CA507816218 | POLR1G | c.117T>C (p.Asp39=) c.123T>C (p.Asp41=) c.20+470T>C c.-418T>C (n.-418T>C) | |
19 | g.45407188T>G | CA406345415 | POLR1G | c.117T>G (p.Asp39Glu) c.123T>G (p.Asp41Glu) c.20+470T>G c.-418T>G (n.-418T>G) | |
19 | g.45407189A>C | CA406345416 | POLR1G | c.118A>C (p.Thr40Pro) c.124A>C (p.Thr42Pro) c.20+471A>C c.-417A>C (n.-417A>C) | |
19 | g.45407189A>G | CA406345417 | POLR1G | c.118A>G (p.Thr40Ala) c.124A>G (p.Thr42Ala) c.20+471A>G c.-417A>G (n.-417A>G) | |
19 | g.45407189A>T | CA406345418 | POLR1G | c.118A>T (p.Thr40Ser) c.124A>T (p.Thr42Ser) c.20+471A>T c.-417A>T (n.-417A>T) | |
19 | g.45407190C>A | CA406345419 | POLR1G | c.119C>A (p.Thr40Lys) c.125C>A (p.Thr42Lys) c.20+472C>A c.-416C>A (n.-416C>A) | gnomAD v4 |
19 | g.45407190C= | CA2338417245 | POLR1G | c.119C= (p.Thr40=) c.125C= (p.Thr42=) c.20+472C= c.-416C= (n.-416C=) | |
19 | g.45407190C>G | CA406345420 | POLR1G | c.119C>G (p.Thr40Arg) c.125C>G (p.Thr42Arg) c.20+472C>G c.-416C>G (n.-416C>G) | COSMIC |
19 | g.45407190C>T | CA406345421 | POLR1G | c.119C>T (p.Thr40Met) c.125C>T (p.Thr42Met) c.20+472C>T c.-416C>T (n.-416C>T) | gnomAD v4 |
19 | g.45407191G>A | CA507816232 | POLR1G | c.120G>A (p.Thr40=) c.126G>A (p.Thr42=) c.20+473G>A c.-415G>A (n.-415G>A) | |
19 | g.45407191G>C | CA507816238 | POLR1G | c.120G>C (p.Thr40=) c.126G>C (p.Thr42=) c.20+473G>C c.-415G>C (n.-415G>C) | |
19 | g.45407191G>T | CA507816235 | POLR1G | c.120G>T (p.Thr40=) c.126G>T (p.Thr42=) c.20+473G>T c.-415G>T (n.-415G>T) | |
19 | g.45407192dup | CA308937506 | POLR1G | c.121dup (p.Glu41GlyfsTer?) c.127dup (p.Glu43GlyfsTer?) c.20+474dup c.-414dup (n.-414dup) | dbSNP |
19 | g.45407192G>A | CA406345422 | POLR1G | c.121G>A (p.Glu41Lys) c.127G>A (p.Glu43Lys) c.20+474G>A c.-414G>A (n.-414G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407192G>C | CA406345423 | POLR1G | c.121G>C (p.Glu41Gln) c.127G>C (p.Glu43Gln) c.20+474G>C c.-414G>C (n.-414G>C) | gnomAD v4 |
19 | g.45407192G= | CA2338417246 | POLR1G | c.121G= (p.Glu41=) c.127G= (p.Glu43=) c.20+474G= c.-414G= (n.-414G=) | |
19 | g.45407192G>T | CA406345424 | POLR1G | c.121G>T (p.Glu41Ter) c.127G>T (p.Glu43Ter) c.20+474G>T c.-414G>T (n.-414G>T) | |
19 | g.45407193A>C | CA406345427 | POLR1G | c.122A>C (p.Glu41Ala) c.128A>C (p.Glu43Ala) c.20+475A>C c.-413A>C (n.-413A>C) | |
19 | g.45407193A>G | CA406345425 | POLR1G | c.122A>G (p.Glu41Gly) c.128A>G (p.Glu43Gly) c.20+475A>G c.-413A>G (n.-413A>G) | |
19 | g.45407193A>T | CA406345426 | POLR1G | c.122A>T (p.Glu41Val) c.128A>T (p.Glu43Val) c.20+475A>T c.-413A>T (n.-413A>T) | |
19 | g.45407194G>A | CA507816251 | POLR1G | c.123G>A (p.Glu41=) c.129G>A (p.Glu43=) c.20+476G>A c.-412G>A (n.-412G>A) | gnomAD v4 |
19 | g.45407194G>C | CA406345428 | POLR1G | c.123G>C (p.Glu41Asp) c.129G>C (p.Glu43Asp) c.20+476G>C c.-412G>C (n.-412G>C) | |
19 | g.45407194G>T | CA406345429 | POLR1G | c.123G>T (p.Glu41Asp) c.129G>T (p.Glu43Asp) c.20+476G>T c.-412G>T (n.-412G>T) | |
19 | g.45407195C>A | CA406345430 | POLR1G | c.124C>A (p.Leu42Met) c.130C>A (p.Leu44Met) c.20+477C>A c.-411C>A (n.-411C>A) | |
19 | g.45407195C= | CA2338417247 | POLR1G | c.124C= (p.Leu42=) c.130C= (p.Leu44=) c.20+477C= c.-411C= (n.-411C=) | |
19 | g.45407195C>G | CA406345431 | POLR1G | c.124C>G (p.Leu42Val) c.130C>G (p.Leu44Val) c.20+477C>G c.-411C>G (n.-411C>G) | |
19 | g.45407195C>T | CA507816260 | POLR1G | c.124C>T (p.Leu42=) c.130C>T (p.Leu44=) c.20+477C>T c.-411C>T (n.-411C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407196T>A | CA406345432 | POLR1G | c.125T>A (p.Leu42Gln) c.131T>A (p.Leu44Gln) c.20+478T>A c.-410T>A (n.-410T>A) | |
19 | g.45407196T>C | CA406345433 | POLR1G | c.125T>C (p.Leu42Pro) c.131T>C (p.Leu44Pro) c.20+478T>C c.-410T>C (n.-410T>C) | |
19 | g.45407196T>G | CA406345434 | POLR1G | c.125T>G (p.Leu42Arg) c.131T>G (p.Leu44Arg) c.20+478T>G c.-410T>G (n.-410T>G) | |
19 | g.45407197G>A | CA507816271 | POLR1G | c.126G>A (p.Leu42=) c.132G>A (p.Leu44=) c.20+479G>A c.-409G>A (n.-409G>A) | |
19 | g.45407197G>C | CA507816273 | POLR1G | c.126G>C (p.Leu42=) c.132G>C (p.Leu44=) c.20+479G>C c.-409G>C (n.-409G>C) | |
19 | g.45407197G>T | CA507816277 | POLR1G | c.126G>T (p.Leu42=) c.132G>T (p.Leu44=) c.20+479G>T c.-409G>T (n.-409G>T) | |
19 | g.45407198T>A | CA406345435 | POLR1G | c.127T>A (p.Trp43Arg) c.133T>A (p.Trp45Arg) c.20+480T>A c.-408T>A (n.-408T>A) | |
19 | g.45407198T>C | CA406345436 | POLR1G | c.127T>C (p.Trp43Arg) c.133T>C (p.Trp45Arg) c.20+480T>C c.-408T>C (n.-408T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407198T>G | CA406345437 | POLR1G | c.127T>G (p.Trp43Gly) c.133T>G (p.Trp45Gly) c.20+480T>G c.-408T>G (n.-408T>G) | |
19 | g.45407198T= | CA2338417248 | POLR1G | c.127T= (p.Trp43=) c.133T= (p.Trp45=) c.20+480T= c.-408T= (n.-408T=) | |
19 | g.45407199G>A | CA406345441 | POLR1G | c.128G>A (p.Trp43Ter) c.134G>A (p.Trp45Ter) c.20+481G>A c.-407G>A (n.-407G>A) | |
19 | g.45407199G>C | CA406345440 | POLR1G | c.128G>C (p.Trp43Ser) c.134G>C (p.Trp45Ser) c.20+481G>C c.-407G>C (n.-407G>C) | |
19 | g.45407199G>T | CA406345438 | POLR1G | c.128G>T (p.Trp43Leu) c.134G>T (p.Trp45Leu) c.20+481G>T c.-407G>T (n.-407G>T) | |
19 | g.45407200G>A | CA406345442 | POLR1G | c.129G>A (p.Trp43Ter) c.135G>A (p.Trp45Ter) c.20+482G>A c.-406G>A (n.-406G>A) | |
19 | g.45407200G>C | CA406345443 | POLR1G | c.129G>C (p.Trp43Cys) c.135G>C (p.Trp45Cys) c.20+482G>C c.-406G>C (n.-406G>C) | |
19 | g.45407200G>T | CA406345444 | POLR1G | c.129G>T (p.Trp43Cys) c.135G>T (p.Trp45Cys) c.20+482G>T c.-406G>T (n.-406G>T) | |
19 | g.45407201C>A | CA406345445 | POLR1G | c.130C>A (p.Leu44Ile) c.136C>A (p.Leu46Ile) c.20+483C>A c.-405C>A (n.-405C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407201C= | CA2338417249 | POLR1G | c.130C= (p.Leu44=) c.136C= (p.Leu46=) c.20+483C= c.-405C= (n.-405C=) | |
19 | g.45407201C>G | CA406345446 | POLR1G | c.130C>G (p.Leu44Val) c.136C>G (p.Leu46Val) c.20+483C>G c.-405C>G (n.-405C>G) | |
19 | g.45407201C>T | CA406345447 | POLR1G | c.130C>T (p.Leu44Phe) c.136C>T (p.Leu46Phe) c.20+483C>T c.-405C>T (n.-405C>T) | |
19 | g.45407202T>A | CA406345448 | POLR1G | c.131T>A (p.Leu44His) c.137T>A (p.Leu46His) c.20+484T>A c.-404T>A (n.-404T>A) | |
19 | g.45407202T>C | CA406345449 | POLR1G | c.131T>C (p.Leu44Pro) c.137T>C (p.Leu46Pro) c.20+484T>C c.-404T>C (n.-404T>C) | |
19 | g.45407202T>G | CA406345450 | POLR1G | c.131T>G (p.Leu44Arg) c.137T>G (p.Leu46Arg) c.20+484T>G c.-404T>G (n.-404T>G) | |
19 | g.45407203T>A | CA507816327 | POLR1G | c.132T>A (p.Leu44=) c.138T>A (p.Leu46=) c.20+485T>A c.-403T>A (n.-403T>A) | |
19 | g.45407203T>C | CA507816333 | POLR1G | c.132T>C (p.Leu44=) c.138T>C (p.Leu46=) c.20+485T>C c.-403T>C (n.-403T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407203T>G | CA507816341 | POLR1G | c.132T>G (p.Leu44=) c.138T>G (p.Leu46=) c.20+485T>G c.-403T>G (n.-403T>G) | |
19 | g.45407203T= | CA2338417250 | POLR1G | c.132T= (p.Leu44=) c.138T= (p.Leu46=) c.20+485T= c.-403T= (n.-403T=) | |
19 | g.45407204A>C | CA406345451 | POLR1G | c.133A>C (p.Ile45Leu) c.139A>C (p.Ile47Leu) c.20+486A>C c.-402A>C (n.-402A>C) | |
19 | g.45407204A>G | CA406345452 | POLR1G | c.133A>G (p.Ile45Val) c.139A>G (p.Ile47Val) c.20+486A>G c.-402A>G (n.-402A>G) | |
19 | g.45407204A>T | CA406345453 | POLR1G | c.133A>T (p.Ile45Phe) c.139A>T (p.Ile47Phe) c.20+486A>T c.-402A>T (n.-402A>T) | |
19 | g.45407205T>A | CA406345456 | POLR1G | c.134T>A (p.Ile45Asn) c.140T>A (p.Ile47Asn) c.20+487T>A c.-401T>A (n.-401T>A) | |
19 | g.45407205T>C | CA406345454 | POLR1G | c.134T>C (p.Ile45Thr) c.140T>C (p.Ile47Thr) c.20+487T>C c.-401T>C (n.-401T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407205T>G | CA406345455 | POLR1G | c.134T>G (p.Ile45Ser) c.140T>G (p.Ile47Ser) c.20+487T>G c.-401T>G (n.-401T>G) | |
19 | g.45407205T= | CA2338417251 | POLR1G | c.134T= (p.Ile45=) c.140T= (p.Ile47=) c.20+487T= c.-401T= (n.-401T=) | |
19 | g.45407206T>A | CA507816354 | POLR1G | c.135T>A (p.Ile45=) c.141T>A (p.Ile47=) c.20+488T>A c.-400T>A (n.-400T>A) | |
19 | g.45407206T>C | CA507816360 | POLR1G | c.135T>C (p.Ile45=) c.141T>C (p.Ile47=) c.20+488T>C c.-400T>C (n.-400T>C) | |
19 | g.45407206T>G | CA406345457 | POLR1G | c.135T>G (p.Ile45Met) c.141T>G (p.Ile47Met) c.20+488T>G c.-400T>G (n.-400T>G) | |
19 | g.45407207C>A | CA406345458 | POLR1G | c.136C>A (p.Gln46Lys) c.142C>A (p.Gln48Lys) c.20+489C>A c.-399C>A (n.-399C>A) | |
19 | g.45407207C>G | CA406345459 | POLR1G | c.136C>G (p.Gln46Glu) c.142C>G (p.Gln48Glu) c.20+489C>G c.-399C>G (n.-399C>G) | |
19 | g.45407207C>T | CA406345460 | POLR1G | c.136C>T (p.Gln46Ter) c.142C>T (p.Gln48Ter) c.20+489C>T c.-399C>T (n.-399C>T) | |
19 | g.45407208A= | CA2338417252 | POLR1G | c.137A= (p.Gln46=) c.143A= (p.Gln48=) c.20+490A= c.-398A= (n.-398A=) | |
19 | g.45407208A>C | CA406345461 | POLR1G | c.137A>C (p.Gln46Pro) c.143A>C (p.Gln48Pro) c.20+490A>C c.-398A>C (n.-398A>C) | |
19 | g.45407208A>G | CA9514888 | POLR1G | c.137A>G (p.Gln46Arg) c.143A>G (p.Gln48Arg) c.20+490A>G c.-398A>G (n.-398A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45407208A>T | CA406345462 | POLR1G | c.137A>T (p.Gln46Leu) c.143A>T (p.Gln48Leu) c.20+490A>T c.-398A>T (n.-398A>T) | |
19 | g.45407209G>A | CA507816368 | POLR1G | c.138G>A (p.Gln46=) c.144G>A (p.Gln48=) c.20+491G>A c.-397G>A (n.-397G>A) | |
19 | g.45407209G>C | CA406345463 | POLR1G | c.138G>C (p.Gln46His) c.144G>C (p.Gln48His) c.20+491G>C c.-397G>C (n.-397G>C) | |
19 | g.45407209G>T | CA406345464 | POLR1G | c.138G>T (p.Gln46His) c.144G>T (p.Gln48His) c.20+491G>T c.-397G>T (n.-397G>T) | |
19 | g.45407210G>A | CA9514889 | POLR1G | c.139G>A (p.Ala47Thr) c.145G>A (p.Ala49Thr) c.20+492G>A c.-396G>A (n.-396G>A) | dbSNP ExAC gnomAD v2 |
19 | g.45407210G>C | CA406345465 | POLR1G | c.139G>C (p.Ala47Pro) c.145G>C (p.Ala49Pro) c.20+492G>C c.-396G>C (n.-396G>C) | |
19 | g.45407210G= | CA2338417253 | POLR1G | c.139G= (p.Ala47=) c.145G= (p.Ala49=) c.20+492G= c.-396G= (n.-396G=) | |
19 | g.45407210G>T | CA406345466 | POLR1G | c.139G>T (p.Ala47Ser) c.145G>T (p.Ala49Ser) c.20+492G>T c.-396G>T (n.-396G>T) | dbSNP gnomAD v4 |
19 | g.45407211C>A | CA406345468 | POLR1G | c.140C>A (p.Ala47Asp) c.146C>A (p.Ala49Asp) c.20+493C>A c.-395C>A (n.-395C>A) | |
19 | g.45407211C>G | CA406345469 | POLR1G | c.140C>G (p.Ala47Gly) c.146C>G (p.Ala49Gly) c.20+493C>G c.-395C>G (n.-395C>G) | |
19 | g.45407211C>T | CA406345467 | POLR1G | c.140C>T (p.Ala47Val) c.146C>T (p.Ala49Val) c.20+493C>T c.-395C>T (n.-395C>T) | |
19 | g.45407214dup | CA2838261784 | POLR1G | c.143dup (p.Ala49CysfsTer?) c.149dup (p.Ala51CysfsTer?) c.20+496dup c.-392dup (n.-392dup) | |
19 | g.45407212C>A | CA507816375 | POLR1G | c.141C>A (p.Ala47=) c.147C>A (p.Ala49=) c.20+494C>A c.-394C>A (n.-394C>A) | |
19 | g.45407212C= | CA2338417254 | POLR1G | c.141C= (p.Ala47=) c.147C= (p.Ala49=) c.20+494C= c.-394C= (n.-394C=) | |
19 | g.45407212C>G | CA507816376 | POLR1G | c.141C>G (p.Ala47=) c.147C>G (p.Ala49=) c.20+494C>G c.-394C>G (n.-394C>G) | |
19 | g.45407212C>T | CA507816378 | POLR1G | c.141C>T (p.Ala47=) c.147C>T (p.Ala49=) c.20+494C>T c.-394C>T (n.-394C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45407213C>A | CA406345472 | POLR1G | c.142C>A (p.Pro48Thr) c.148C>A (p.Pro50Thr) c.20+495C>A c.-393C>A (n.-393C>A) | |
19 | g.45407213C>G | CA406345470 | POLR1G | c.142C>G (p.Pro48Ala) c.148C>G (p.Pro50Ala) c.20+495C>G c.-393C>G (n.-393C>G) | |
19 | g.45407213C>T | CA406345471 | POLR1G | c.142C>T (p.Pro48Ser) c.148C>T (p.Pro50Ser) c.20+495C>T c.-393C>T (n.-393C>T) | gnomAD v4 |
19 | g.45407214C>A | CA406345473 | POLR1G | c.143C>A (p.Pro48His) c.149C>A (p.Pro50His) c.20+496C>A c.-392C>A (n.-392C>A) | |
19 | g.45407214C>G | CA406345474 | POLR1G | c.143C>G (p.Pro48Arg) c.149C>G (p.Pro50Arg) c.20+496C>G c.-392C>G (n.-392C>G) | |
19 | g.45407214C>T | CA406345475 | POLR1G | c.143C>T (p.Pro48Leu) c.149C>T (p.Pro50Leu) c.20+496C>T c.-392C>T (n.-392C>T) | gnomAD v4 |
19 | g.45407215T>A | CA507816388 | POLR1G | c.144T>A (p.Pro48=) c.150T>A (p.Pro50=) c.20+497T>A c.-391T>A (n.-391T>A) | |
19 | g.45407215T>C | CA507816386 | POLR1G | c.144T>C (p.Pro48=) c.150T>C (p.Pro50=) c.20+497T>C c.-391T>C (n.-391T>C) | |
19 | g.45407215T>G | CA507816384 | POLR1G | c.144T>G (p.Pro48=) c.150T>G (p.Pro50=) c.20+497T>G c.-391T>G (n.-391T>G) | dbSNP |
19 | g.45407215T= | CA2338417255 | POLR1G | c.144T= (p.Pro48=) c.150T= (p.Pro50=) c.20+497T= c.-391T= (n.-391T=) | |
19 | g.45407216G>A | CA406345476 | POLR1G | c.145G>A (p.Ala49Thr) c.151G>A (p.Ala51Thr) c.20+498G>A c.-390G>A (n.-390G>A) | gnomAD v4 |
19 | g.45407216G>C | CA406345477 | POLR1G | c.145G>C (p.Ala49Pro) c.151G>C (p.Ala51Pro) c.20+498G>C c.-390G>C (n.-390G>C) | |
19 | g.45407216G>T | CA406345478 | POLR1G | c.145G>T (p.Ala49Ser) c.151G>T (p.Ala51Ser) c.20+498G>T c.-390G>T (n.-390G>T) | |
19 | g.45407217C>A | CA406345479 | POLR1G | c.146C>A (p.Ala49Glu) c.152C>A (p.Ala51Glu) c.20+499C>A c.-389C>A (n.-389C>A) | |
19 | g.45407217C= | CA2338417256 | POLR1G | c.146C= (p.Ala49=) c.152C= (p.Ala51=) c.20+499C= c.-389C= (n.-389C=) | |
19 | g.45407217C>G | CA406345480 | POLR1G | c.146C>G (p.Ala49Gly) c.152C>G (p.Ala51Gly) c.20+499C>G c.-389C>G (n.-389C>G) | |
19 | g.45407217C>T | CA308937512 | POLR1G | c.146C>T (p.Ala49Val) c.152C>T (p.Ala51Val) c.20+499C>T c.-389C>T (n.-389C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.45407218A= | CA2338417257 | POLR1G | c.147A= (p.Ala49=) c.153A= (p.Ala51=) c.20+500A= c.-388A= (n.-388A=) | |
19 | g.45407218A>C | CA507816402 | POLR1G | c.147A>C (p.Ala49=) c.153A>C (p.Ala51=) c.20+500A>C c.-388A>C (n.-388A>C) | |
19 | g.45407218A>G | CA507816405 | POLR1G | c.147A>G (p.Ala49=) c.153A>G (p.Ala51=) c.20+500A>G c.-388A>G (n.-388A>G) | |
19 | g.45407218A>T | CA507816409 | POLR1G | c.147A>T (p.Ala49=) c.153A>T (p.Ala51=) c.20+500A>T c.-388A>T (n.-388A>T) | |
19 | g.45407218_45407219insCAG | CA9514890 | POLR1G | c.147_148insCAG (p.Ala49_Asp50insGln) c.153_154insCAG (p.Ala51_Asp52insGln) c.20+500_20+501insCAG c.-388_-387insCAG (n.-388_-387insCAG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45407219G>A | CA406345483 | POLR1G | c.148G>A (p.Asp50Asn) c.154G>A (p.Asp52Asn) c.20+501G>A c.-387G>A (n.-387G>A) | |
19 | g.45407219G>C | CA406345482 | POLR1G | c.148G>C (p.Asp50His) c.154G>C (p.Asp52His) c.20+501G>C c.-387G>C (n.-387G>C) | |
19 | g.45407219G>T | CA406345481 | POLR1G | c.148G>T (p.Asp50Tyr) c.154G>T (p.Asp52Tyr) c.20+501G>T c.-387G>T (n.-387G>T) | |
19 | g.45407220A= | CA2338417258 | POLR1G | c.149A= (p.Asp50=) c.155A= (p.Asp52=) c.20+502A= c.-386A= (n.-386A=) | |
19 | g.45407220A>C | CA406345484 | POLR1G | c.149A>C (p.Asp50Ala) c.155A>C (p.Asp52Ala) c.20+502A>C c.-386A>C (n.-386A>C) | |
19 | g.45407220A>G | CA406345485 | POLR1G | c.149A>G (p.Asp50Gly) c.155A>G (p.Asp52Gly) c.20+502A>G c.-386A>G (n.-386A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45407220A>T | CA406345486 | POLR1G | c.149A>T (p.Asp50Val) c.155A>T (p.Asp52Val) c.20+502A>T c.-386A>T (n.-386A>T) | |
19 | g.45407221C>A | CA406345487 | POLR1G | c.150C>A (p.Asp50Glu) c.156C>A (p.Asp52Glu) c.20+503C>A c.-385C>A (n.-385C>A) | |
19 | g.45407221C>G | CA406345488 | POLR1G | c.150C>G (p.Asp50Glu) c.156C>G (p.Asp52Glu) c.20+503C>G c.-385C>G (n.-385C>G) | |
19 | g.45407221C>T | CA507816430 | POLR1G | c.150C>T (p.Asp50=) c.156C>T (p.Asp52=) c.20+503C>T c.-385C>T (n.-385C>T) | |
19 | g.45407222T>A | CA406345491 | POLR1G | c.151T>A (p.Phe51Ile) c.157T>A (p.Phe53Ile) c.20+504T>A c.-384T>A (n.-384T>A) | |
19 | g.45407222T>C | CA406345489 | POLR1G | c.151T>C (p.Phe51Leu) c.157T>C (p.Phe53Leu) c.20+504T>C c.-384T>C (n.-384T>C) | |
19 | g.45407222T>G | CA406345490 | POLR1G | c.151T>G (p.Phe51Val) c.157T>G (p.Phe53Val) c.20+504T>G c.-384T>G (n.-384T>G) | |
19 | g.45407223_45407224del | CA2558438073 | POLR1G | c.152_153del (p.Phe51CysfsTer?) c.158_159del (p.Phe53CysfsTer?) c.20+505_20+506del c.-383_-382del (n.-383_-382del) | gnomAD v4 |
19 | g.45407223T>A | CA406345492 | POLR1G | c.152T>A (p.Phe51Tyr) c.158T>A (p.Phe53Tyr) c.20+505T>A c.-383T>A (n.-383T>A) | |
19 | g.45407223T>C | CA406345493 | POLR1G | c.152T>C (p.Phe51Ser) c.158T>C (p.Phe53Ser) c.20+505T>C c.-383T>C (n.-383T>C) | |
19 | g.45407223T>G | CA406345494 | POLR1G | c.152T>G (p.Phe51Cys) c.158T>G (p.Phe53Cys) c.20+505T>G c.-383T>G (n.-383T>G) | |
19 | g.45407224T>A | CA406345495 | POLR1G | c.153T>A (p.Phe51Leu) c.159T>A (p.Phe53Leu) c.20+506T>A c.-382T>A (n.-382T>A) | |
19 | g.45407224T>C | CA507816455 | POLR1G | c.153T>C (p.Phe51=) c.159T>C (p.Phe53=) c.20+506T>C c.-382T>C (n.-382T>C) | |
19 | g.45407224T>G | CA406345496 | POLR1G | c.153T>G (p.Phe51Leu) c.159T>G (p.Phe53Leu) c.20+506T>G c.-382T>G (n.-382T>G) | |
19 | g.45407225G>A | CA406345499 | POLR1G | c.154G>A (p.Ala52Thr) c.160G>A (p.Ala54Thr) c.20+507G>A c.-381G>A (n.-381G>A) | |
19 | g.45407225G>C | CA406345498 | POLR1G | c.154G>C (p.Ala52Pro) c.160G>C (p.Ala54Pro) c.20+507G>C c.-381G>C (n.-381G>C) | |
19 | g.45407225G>T | CA406345497 | POLR1G | c.154G>T (p.Ala52Ser) c.160G>T (p.Ala54Ser) c.20+507G>T c.-381G>T (n.-381G>T) | |
19 | g.45407226C>A | CA406345500 | POLR1G | c.155C>A (p.Ala52Asp) c.161C>A (p.Ala54Asp) c.20+508C>A c.-380C>A (n.-380C>A) | gnomAD v4 |
19 | g.45407226C>G | CA406345501 | POLR1G | c.155C>G (p.Ala52Gly) c.161C>G (p.Ala54Gly) c.20+508C>G c.-380C>G (n.-380C>G) | |
19 | g.45407226C>T | CA406345502 | POLR1G | c.155C>T (p.Ala52Val) c.161C>T (p.Ala54Val) c.20+508C>T c.-380C>T (n.-380C>T) | |
19 | g.45407229del | CA2585795800 | POLR1G | c.158del (p.Pro53GlnfsTer?) c.164del (p.Pro55GlnfsTer?) c.20+511del c.-377del (n.-377del) | gnomAD v4 |
19 | g.45407227C>A | CA507816466 | POLR1G | c.156C>A (p.Ala52=) c.162C>A (p.Ala54=) c.20+509C>A c.-379C>A (n.-379C>A) | |
19 | g.45407227C>G | CA507816468 | POLR1G | c.156C>G (p.Ala52=) c.162C>G (p.Ala54=) c.20+509C>G c.-379C>G (n.-379C>G) | |
19 | g.45407227C>T | CA507816470 | POLR1G | c.156C>T (p.Ala52=) c.162C>T (p.Ala54=) c.20+509C>T c.-379C>T (n.-379C>T) | |
19 | g.45407228C>A | CA406345503 | POLR1G | c.157C>A (p.Pro53Thr) c.163C>A (p.Pro55Thr) c.20+510C>A c.-378C>A (n.-378C>A) | |
19 | g.45407228C= | CA2338417259 | POLR1G | c.157C= (p.Pro53=) c.163C= (p.Pro55=) c.20+510C= c.-378C= (n.-378C=) | |
19 | g.45407228C>G | CA406345504 | POLR1G | c.157C>G (p.Pro53Ala) c.163C>G (p.Pro55Ala) c.20+510C>G c.-378C>G (n.-378C>G) | |
19 | g.45407228C>T | CA9514891 | POLR1G | c.157C>T (p.Pro53Ser) c.163C>T (p.Pro55Ser) c.20+510C>T c.-378C>T (n.-378C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45407229C>A | CA406345505 | POLR1G | c.158C>A (p.Pro53Gln) c.164C>A (p.Pro55Gln) c.20+511C>A c.-377C>A (n.-377C>A) | |
19 | g.45407229C>G | CA406345506 | POLR1G | c.158C>G (p.Pro53Arg) c.164C>G (p.Pro55Arg) c.20+511C>G c.-377C>G (n.-377C>G) | |
19 | g.45407229C>T | CA406345507 | POLR1G | c.158C>T (p.Pro53Leu) c.164C>T (p.Pro55Leu) c.20+511C>T c.-377C>T (n.-377C>T) | gnomAD v4 |
19 | g.45407230A>C | CA507816485 | POLR1G | c.159A>C (p.Pro53=) c.165A>C (p.Pro55=) c.20+512A>C c.-376A>C (n.-376A>C) | |
19 | g.45407230A>G | CA507816486 | POLR1G | c.159A>G (p.Pro53=) c.165A>G (p.Pro55=) c.20+512A>G c.-376A>G (n.-376A>G) | gnomAD v4 |
19 | g.45407230A>T | CA507816487 | POLR1G | c.159A>T (p.Pro53=) c.165A>T (p.Pro55=) c.20+512A>T c.-376A>T (n.-376A>T) |