Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.44230667_44230811del | CA2678935218 | POLR1C,SLC29A1 | c.687+2_688del n.1085+2_1086del c.374+2_375del n.876+2_877del c.924+2_925del c.813+2_814del c.765+2_766del c.762+2_763del c.816+2_817del c.927+2_928del c.946-211223_946-211079del (n.946-211223_946-211079del) | gnomAD v4 |
6 | g.44230793G>A | CA3831665 | POLR1C,SLC29A1 | c.688-18G>A (n.688-18G>A) n.1086-18G>A c.375-18G>A n.877-18G>A c.925-18G>A (n.925-18G>A) c.814-18G>A (n.814-18G>A) c.766-18G>A (n.766-18G>A) c.763-18G>A (n.763-18G>A) c.817-18G>A (n.817-18G>A) c.928-18G>A (n.928-18G>A) c.946-211097G>A (n.946-211097G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230793G= | CA1624908914 | POLR1C,SLC29A1 | c.688-18G= (n.688-18G=) n.1086-18G= c.375-18G= n.877-18G= c.925-18G= (n.925-18G=) c.814-18G= (n.814-18G=) c.766-18G= (n.766-18G=) c.763-18G= (n.763-18G=) c.817-18G= (n.817-18G=) c.928-18G= (n.928-18G=) c.946-211097G= (n.946-211097G=) | |
6 | g.44230793G>T | CA3831666 | POLR1C,SLC29A1 | c.688-18G>T (n.688-18G>T) n.1086-18G>T c.375-18G>T n.877-18G>T c.925-18G>T (n.925-18G>T) c.814-18G>T (n.814-18G>T) c.766-18G>T (n.766-18G>T) c.763-18G>T (n.763-18G>T) c.817-18G>T (n.817-18G>T) c.928-18G>T (n.928-18G>T) c.946-211097G>T (n.946-211097G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230794T>C | CA2770867129 | POLR1C,SLC29A1 | c.688-17T>C (n.688-17T>C) n.1086-17T>C c.375-17T>C n.877-17T>C c.925-17T>C (n.925-17T>C) c.814-17T>C (n.814-17T>C) c.766-17T>C (n.766-17T>C) c.763-17T>C (n.763-17T>C) c.817-17T>C (n.817-17T>C) c.928-17T>C (n.928-17T>C) c.946-211096T>C (n.946-211096T>C) | |
6 | g.44230795C>G | CA2578632069 | POLR1C,SLC29A1 | c.688-16C>G (n.688-16C>G) n.1086-16C>G c.375-16C>G n.877-16C>G c.925-16C>G (n.925-16C>G) c.814-16C>G (n.814-16C>G) c.766-16C>G (n.766-16C>G) c.763-16C>G (n.763-16C>G) c.817-16C>G (n.817-16C>G) c.928-16C>G (n.928-16C>G) c.946-211095C>G (n.946-211095C>G) | gnomAD v4 |
6 | g.44230796T>C | CA2678935612 | POLR1C,SLC29A1 | c.688-15T>C (n.688-15T>C) n.1086-15T>C c.375-15T>C n.877-15T>C c.925-15T>C (n.925-15T>C) c.814-15T>C (n.814-15T>C) c.766-15T>C (n.766-15T>C) c.763-15T>C (n.763-15T>C) c.817-15T>C (n.817-15T>C) c.928-15T>C (n.928-15T>C) c.946-211094T>C (n.946-211094T>C) | gnomAD v4 |
6 | g.44230796_44230797delinsTC | CA1624908915 | POLR1C,SLC29A1 | c.688-15_688-14delinsTC (n.688-15_688-14delinsTC) n.1086-15_1086-14delinsTC c.375-15_375-14delinsTC n.877-15_877-14delinsTC c.925-15_925-14delinsTC (n.925-15_925-14delinsTC) c.814-15_814-14delinsTC (n.814-15_814-14delinsTC) c.766-15_766-14delinsTC (n.766-15_766-14delinsTC) c.763-15_763-14delinsTC (n.763-15_763-14delinsTC) c.817-15_817-14delinsTC (n.817-15_817-14delinsTC) c.928-15_928-14delinsTC (n.928-15_928-14delinsTC) c.946-211094_946-211093delinsTC (n.946-211094_946-211093delinsTC) | |
6 | g.44230799del | CA1624908917 | POLR1C,SLC29A1 | c.688-12del (n.688-12del) n.1086-12del c.375-12del n.877-12del c.925-12del (n.925-12del) c.814-12del (n.814-12del) c.766-12del (n.766-12del) c.763-12del (n.763-12del) c.817-12del (n.817-12del) c.928-12del (n.928-12del) c.946-211091del (n.946-211091del) | dbSNP gnomAD v4 |
6 | g.44230798C= | CA1624908921 | POLR1C,SLC29A1 | c.688-13C= (n.688-13C=) n.1086-13C= c.375-13C= n.877-13C= c.925-13C= (n.925-13C=) c.814-13C= (n.814-13C=) c.766-13C= (n.766-13C=) c.763-13C= (n.763-13C=) c.817-13C= (n.817-13C=) c.928-13C= (n.928-13C=) c.946-211092C= (n.946-211092C=) | |
6 | g.44230798C>T | CA138375476 | POLR1C,SLC29A1 | c.688-13C>T (n.688-13C>T) n.1086-13C>T c.375-13C>T n.877-13C>T c.925-13C>T (n.925-13C>T) c.814-13C>T (n.814-13C>T) c.766-13C>T (n.766-13C>T) c.763-13C>T (n.763-13C>T) c.817-13C>T (n.817-13C>T) c.928-13C>T (n.928-13C>T) c.946-211092C>T (n.946-211092C>T) | dbSNP |
6 | g.44230798_44230802delinsCCTTA | CA1624908919 | POLR1C,SLC29A1 | c.688-13_688-9delinsCCTTA (n.688-13_688-9delinsCCTTA) n.1086-13_1086-9delinsCCTTA c.375-13_375-9delinsCCTTA n.877-13_877-9delinsCCTTA c.925-13_925-9delinsCCTTA (n.925-13_925-9delinsCCTTA) c.814-13_814-9delinsCCTTA (n.814-13_814-9delinsCCTTA) c.766-13_766-9delinsCCTTA (n.766-13_766-9delinsCCTTA) c.763-13_763-9delinsCCTTA (n.763-13_763-9delinsCCTTA) c.817-13_817-9delinsCCTTA (n.817-13_817-9delinsCCTTA) c.928-13_928-9delinsCCTTA (n.928-13_928-9delinsCCTTA) c.946-211092_946-211088delinsCCTTA (n.946-211092_946-211088delinsCCTTA) | |
6 | g.44230799C>A | CA2581581261 | POLR1C,SLC29A1 | c.688-12C>A (n.688-12C>A) n.1086-12C>A c.375-12C>A n.877-12C>A c.925-12C>A (n.925-12C>A) c.814-12C>A (n.814-12C>A) c.766-12C>A (n.766-12C>A) c.763-12C>A (n.763-12C>A) c.817-12C>A (n.817-12C>A) c.928-12C>A (n.928-12C>A) c.946-211091C>A (n.946-211091C>A) | |
6 | g.44230799C= | CA1624908923 | POLR1C,SLC29A1 | c.688-12C= (n.688-12C=) n.1086-12C= c.375-12C= n.877-12C= c.925-12C= (n.925-12C=) c.814-12C= (n.814-12C=) c.766-12C= (n.766-12C=) c.763-12C= (n.763-12C=) c.817-12C= (n.817-12C=) c.928-12C= (n.928-12C=) c.946-211091C= (n.946-211091C=) | |
6 | g.44230799C>G | CA138375479 | POLR1C,SLC29A1 | c.688-12C>G (n.688-12C>G) n.1086-12C>G c.375-12C>G n.877-12C>G c.925-12C>G (n.925-12C>G) c.814-12C>G (n.814-12C>G) c.766-12C>G (n.766-12C>G) c.763-12C>G (n.763-12C>G) c.817-12C>G (n.817-12C>G) c.928-12C>G (n.928-12C>G) c.946-211091C>G (n.946-211091C>G) | dbSNP |
6 | g.44230799C>T | CA3831668 | POLR1C,SLC29A1 | c.688-12C>T (n.688-12C>T) n.1086-12C>T c.375-12C>T n.877-12C>T c.925-12C>T (n.925-12C>T) c.814-12C>T (n.814-12C>T) c.766-12C>T (n.766-12C>T) c.763-12C>T (n.763-12C>T) c.817-12C>T (n.817-12C>T) c.928-12C>T (n.928-12C>T) c.946-211091C>T (n.946-211091C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230802_44230805del | CA3831667 | POLR1C,SLC29A1 | c.688-9_688-6del (n.688-9_688-6del) n.1086-9_1086-6del c.375-9_375-6del n.877-9_877-6del c.925-9_925-6del (n.925-9_925-6del) c.814-9_814-6del (n.814-9_814-6del) c.766-9_766-6del (n.766-9_766-6del) c.763-9_763-6del (n.763-9_763-6del) c.817-9_817-6del (n.817-9_817-6del) c.928-9_928-6del (n.928-9_928-6del) c.946-211088_946-211085del (n.946-211088_946-211085del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230800_44230801insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC | CA2678935618 | POLR1C,SLC29A1 | c.688-11_688-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.688-11_688-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) n.1086-11_1086-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC c.375-11_375-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC n.877-11_877-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC c.925-11_925-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.925-11_925-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.814-11_814-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.814-11_814-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.766-11_766-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.766-11_766-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.763-11_763-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.763-11_763-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.817-11_817-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.817-11_817-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.928-11_928-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.928-11_928-10insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) c.946-211090_946-211089insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC (n.946-211090_946-211089insCAGGGCAGCCTGTTTGGTCTGGCTGGCCTTCTGCCTGCCAGC) | gnomAD v4 |
6 | g.44230801T>C | CA3831669 | POLR1C,SLC29A1 | c.688-10T>C (n.688-10T>C) n.1086-10T>C c.375-10T>C n.877-10T>C c.925-10T>C (n.925-10T>C) c.814-10T>C (n.814-10T>C) c.766-10T>C (n.766-10T>C) c.763-10T>C (n.763-10T>C) c.817-10T>C (n.817-10T>C) c.928-10T>C (n.928-10T>C) c.946-211089T>C (n.946-211089T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230801T= | CA1624908926 | POLR1C,SLC29A1 | c.688-10T= (n.688-10T=) n.1086-10T= c.375-10T= n.877-10T= c.925-10T= (n.925-10T=) c.814-10T= (n.814-10T=) c.766-10T= (n.766-10T=) c.763-10T= (n.763-10T=) c.817-10T= (n.817-10T=) c.928-10T= (n.928-10T=) c.946-211089T= (n.946-211089T=) | |
6 | g.44230804T>C | CA567154171 | POLR1C,SLC29A1 | c.688-7T>C (n.688-7T>C) n.1086-7T>C c.375-7T>C n.877-7T>C c.925-7T>C (n.925-7T>C) c.814-7T>C (n.814-7T>C) c.766-7T>C (n.766-7T>C) c.763-7T>C (n.763-7T>C) c.817-7T>C (n.817-7T>C) c.928-7T>C (n.928-7T>C) c.946-211086T>C (n.946-211086T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230804T= | CA1624908928 | POLR1C,SLC29A1 | c.688-7T= (n.688-7T=) n.1086-7T= c.375-7T= n.877-7T= c.925-7T= (n.925-7T=) c.814-7T= (n.814-7T=) c.766-7T= (n.766-7T=) c.763-7T= (n.763-7T=) c.817-7T= (n.817-7T=) c.928-7T= (n.928-7T=) c.946-211086T= (n.946-211086T=) | |
6 | g.44230804_44230805insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG | CA2551765686 | POLR1C,SLC29A1 | c.688-7_688-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.688-7_688-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) n.1086-7_1086-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG c.375-7_375-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG n.877-7_877-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG c.925-7_925-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.925-7_925-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.814-7_814-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.814-7_814-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.766-7_766-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.766-7_766-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.763-7_763-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.763-7_763-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.817-7_817-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.817-7_817-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.928-7_928-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.928-7_928-6insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) c.946-211086_946-211085insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG (n.946-211086_946-211085insGGGATCGTCGTGGTGGGGTAGCCGTCGGCGTCGTGGCGGTGGTGCACGGGGTAGACGGGGTGGCCGTTGTAGGCCCAGGTGCCTGAGCAGGCGTTAGCGGAGCGCTCGGGGTCGAGGCTGAGCTGCATG) | |
6 | g.44230805T>G | CA3831670 | POLR1C,SLC29A1 | c.688-6T>G (n.688-6T>G) n.1086-6T>G c.375-6T>G n.877-6T>G c.925-6T>G (n.925-6T>G) c.814-6T>G (n.814-6T>G) c.766-6T>G (n.766-6T>G) c.763-6T>G (n.763-6T>G) c.817-6T>G (n.817-6T>G) c.928-6T>G (n.928-6T>G) c.946-211085T>G (n.946-211085T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230805T= | CA1624908930 | POLR1C,SLC29A1 | c.688-6T= (n.688-6T=) n.1086-6T= c.375-6T= n.877-6T= c.925-6T= (n.925-6T=) c.814-6T= (n.814-6T=) c.766-6T= (n.766-6T=) c.763-6T= (n.763-6T=) c.817-6T= (n.817-6T=) c.928-6T= (n.928-6T=) c.946-211085T= (n.946-211085T=) | |
6 | g.44230806G>A | CA2711930256 | POLR1C,SLC29A1 | c.688-5G>A (n.688-5G>A) n.1086-5G>A c.375-5G>A n.877-5G>A c.925-5G>A (n.925-5G>A) c.814-5G>A (n.814-5G>A) c.766-5G>A (n.766-5G>A) c.763-5G>A (n.763-5G>A) c.817-5G>A (n.817-5G>A) c.928-5G>A (n.928-5G>A) c.946-211084G>A (n.946-211084G>A) | dbSNP |
6 | g.44230808T>C | CA1624908932 | POLR1C,SLC29A1 | c.688-3T>C (n.688-3T>C) n.1086-3T>C c.375-3T>C n.877-3T>C c.925-3T>C (n.925-3T>C) c.814-3T>C (n.814-3T>C) c.766-3T>C (n.766-3T>C) c.763-3T>C (n.763-3T>C) c.817-3T>C (n.817-3T>C) c.928-3T>C (n.928-3T>C) c.946-211082T>C (n.946-211082T>C) | dbSNP |
6 | g.44230808T= | CA1624908931 | POLR1C,SLC29A1 | c.688-3T= (n.688-3T=) n.1086-3T= c.375-3T= n.877-3T= c.925-3T= (n.925-3T=) c.814-3T= (n.814-3T=) c.766-3T= (n.766-3T=) c.763-3T= (n.763-3T=) c.817-3T= (n.817-3T=) c.928-3T= (n.928-3T=) c.946-211082T= (n.946-211082T=) | |
6 | g.44230809A>C | CA364307174 | POLR1C,SLC29A1 | c.688-2A>C (n.688-2A>C) n.1086-2A>C c.375-2A>C n.877-2A>C c.925-2A>C (n.925-2A>C) c.814-2A>C (n.814-2A>C) c.766-2A>C (n.766-2A>C) c.763-2A>C (n.763-2A>C) c.817-2A>C (n.817-2A>C) c.928-2A>C (n.928-2A>C) c.946-211081A>C (n.946-211081A>C) | |
6 | g.44230809A>G | CA364307175 | POLR1C,SLC29A1 | c.688-2A>G (n.688-2A>G) n.1086-2A>G c.375-2A>G n.877-2A>G c.925-2A>G (n.925-2A>G) c.814-2A>G (n.814-2A>G) c.766-2A>G (n.766-2A>G) c.763-2A>G (n.763-2A>G) c.817-2A>G (n.817-2A>G) c.928-2A>G (n.928-2A>G) c.946-211081A>G (n.946-211081A>G) | |
6 | g.44230809A>T | CA364307176 | POLR1C,SLC29A1 | c.688-2A>T (n.688-2A>T) n.1086-2A>T c.375-2A>T n.877-2A>T c.925-2A>T (n.925-2A>T) c.814-2A>T (n.814-2A>T) c.766-2A>T (n.766-2A>T) c.763-2A>T (n.763-2A>T) c.817-2A>T (n.817-2A>T) c.928-2A>T (n.928-2A>T) c.946-211081A>T (n.946-211081A>T) | |
6 | g.44230810G>A | CA364307180 | POLR1C,SLC29A1 | c.688-1G>A (n.688-1G>A) n.1086-1G>A c.375-1G>A n.877-1G>A c.925-1G>A (n.925-1G>A) c.814-1G>A (n.814-1G>A) c.766-1G>A (n.766-1G>A) c.763-1G>A (n.763-1G>A) c.817-1G>A (n.817-1G>A) c.928-1G>A (n.928-1G>A) c.946-211080G>A (n.946-211080G>A) | |
6 | g.44230810G>C | CA364307183 | POLR1C,SLC29A1 | c.688-1G>C (n.688-1G>C) n.1086-1G>C c.375-1G>C n.877-1G>C c.925-1G>C (n.925-1G>C) c.814-1G>C (n.814-1G>C) c.766-1G>C (n.766-1G>C) c.763-1G>C (n.763-1G>C) c.817-1G>C (n.817-1G>C) c.928-1G>C (n.928-1G>C) c.946-211080G>C (n.946-211080G>C) | |
6 | g.44230810G>T | CA364307187 | POLR1C,SLC29A1 | c.688-1G>T (n.688-1G>T) n.1086-1G>T c.375-1G>T n.877-1G>T c.925-1G>T (n.925-1G>T) c.814-1G>T (n.814-1G>T) c.766-1G>T (n.766-1G>T) c.763-1G>T (n.763-1G>T) c.817-1G>T (n.817-1G>T) c.928-1G>T (n.928-1G>T) c.946-211080G>T (n.946-211080G>T) | |
6 | g.44230811G>A | CA364307197 | POLR1C,SLC29A1 | c.688G>A (p.Glu230Lys) n.1086G>A c.375G>A n.877G>A c.925G>A (p.Glu309Lys) c.814G>A (p.Glu272Lys) c.766G>A (p.Glu256Lys) c.763G>A (p.Glu255Lys) c.817G>A (p.Glu273Lys) c.928G>A (p.Glu310Lys) c.946-211079G>A (n.946-211079G>A) | |
6 | g.44230811G>C | CA364307200 | POLR1C,SLC29A1 | c.688G>C (p.Glu230Gln) n.1086G>C c.375G>C n.877G>C c.925G>C (p.Glu309Gln) c.814G>C (p.Glu272Gln) c.766G>C (p.Glu256Gln) c.763G>C (p.Glu255Gln) c.817G>C (p.Glu273Gln) c.928G>C (p.Glu310Gln) c.946-211079G>C (n.946-211079G>C) | |
6 | g.44230811G>T | CA364307193 | POLR1C,SLC29A1 | c.688G>T (p.Glu230Ter) n.1086G>T c.375G>T n.877G>T c.925G>T (p.Glu309Ter) c.814G>T (p.Glu272Ter) c.766G>T (p.Glu256Ter) c.763G>T (p.Glu255Ter) c.817G>T (p.Glu273Ter) c.928G>T (p.Glu310Ter) c.946-211079G>T (n.946-211079G>T) | |
6 | g.44230812A>C | CA364307204 | POLR1C,SLC29A1 | c.689A>C (p.Glu230Ala) n.1087A>C c.376A>C n.878A>C c.926A>C (p.Glu309Ala) c.815A>C (p.Glu272Ala) c.767A>C (p.Glu256Ala) c.764A>C (p.Glu255Ala) c.818A>C (p.Glu273Ala) c.929A>C (p.Glu310Ala) c.946-211078A>C (n.946-211078A>C) | |
6 | g.44230812A>G | CA364307208 | POLR1C,SLC29A1 | c.689A>G (p.Glu230Gly) n.1087A>G c.376A>G n.878A>G c.926A>G (p.Glu309Gly) c.815A>G (p.Glu272Gly) c.767A>G (p.Glu256Gly) c.764A>G (p.Glu255Gly) c.818A>G (p.Glu273Gly) c.929A>G (p.Glu310Gly) c.946-211078A>G (n.946-211078A>G) | |
6 | g.44230812A>T | CA364307211 | POLR1C,SLC29A1 | c.689A>T (p.Glu230Val) n.1087A>T c.376A>T n.878A>T c.926A>T (p.Glu309Val) c.815A>T (p.Glu272Val) c.767A>T (p.Glu256Val) c.764A>T (p.Glu255Val) c.818A>T (p.Glu273Val) c.929A>T (p.Glu310Val) c.946-211078A>T (n.946-211078A>T) | |
6 | g.44230813A= | CA1624908935 | POLR1C,SLC29A1 | c.690A= (p.Glu230=) n.1088A= c.377A= n.879A= c.927A= (p.Glu309=) c.816A= (p.Glu272=) c.768A= (p.Glu256=) c.765A= (p.Glu255=) c.819A= (p.Glu273=) c.930A= (p.Glu310=) c.946-211077A= (n.946-211077A=) | |
6 | g.44230813A>C | CA364307214 | POLR1C,SLC29A1 | c.690A>C (p.Glu230Asp) n.1088A>C c.377A>C n.879A>C c.927A>C (p.Glu309Asp) c.816A>C (p.Glu272Asp) c.768A>C (p.Glu256Asp) c.765A>C (p.Glu255Asp) c.819A>C (p.Glu273Asp) c.930A>C (p.Glu310Asp) c.946-211077A>C (n.946-211077A>C) | |
6 | g.44230813A>G | CA3831671 | POLR1C,SLC29A1 | c.690A>G (p.Glu230=) n.1088A>G c.377A>G n.879A>G c.927A>G (p.Glu309=) c.816A>G (p.Glu272=) c.768A>G (p.Glu256=) c.765A>G (p.Glu255=) c.819A>G (p.Glu273=) c.930A>G (p.Glu310=) c.946-211077A>G (n.946-211077A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230813A>T | CA364307223 | POLR1C,SLC29A1 | c.690A>T (p.Glu230Asp) n.1088A>T c.377A>T n.879A>T c.927A>T (p.Glu309Asp) c.816A>T (p.Glu272Asp) c.768A>T (p.Glu256Asp) c.765A>T (p.Glu255Asp) c.819A>T (p.Glu273Asp) c.930A>T (p.Glu310Asp) c.946-211077A>T (n.946-211077A>T) | |
6 | g.44230814T>A | CA364307242 | POLR1C,SLC29A1 | c.691T>A (p.Phe231Ile) n.1089T>A c.378T>A n.880T>A c.928T>A (p.Phe310Ile) c.817T>A (p.Phe273Ile) c.769T>A (p.Phe257Ile) c.766T>A (p.Phe256Ile) c.820T>A (p.Phe274Ile) c.931T>A (p.Phe311Ile) c.946-211076T>A (n.946-211076T>A) | |
6 | g.44230814T>C | CA364307243 | POLR1C,SLC29A1 | c.691T>C (p.Phe231Leu) n.1089T>C c.378T>C n.880T>C c.928T>C (p.Phe310Leu) c.817T>C (p.Phe273Leu) c.769T>C (p.Phe257Leu) c.766T>C (p.Phe256Leu) c.820T>C (p.Phe274Leu) c.931T>C (p.Phe311Leu) c.946-211076T>C (n.946-211076T>C) | |
6 | g.44230814T>G | CA364307244 | POLR1C,SLC29A1 | c.691T>G (p.Phe231Val) n.1089T>G c.378T>G n.880T>G c.928T>G (p.Phe310Val) c.817T>G (p.Phe273Val) c.769T>G (p.Phe257Val) c.766T>G (p.Phe256Val) c.820T>G (p.Phe274Val) c.931T>G (p.Phe311Val) c.946-211076T>G (n.946-211076T>G) | |
6 | g.44230815T>A | CA364307248 | POLR1C,SLC29A1 | c.692T>A (p.Phe231Tyr) n.1090T>A c.379T>A n.881T>A c.929T>A (p.Phe310Tyr) c.818T>A (p.Phe273Tyr) c.770T>A (p.Phe257Tyr) c.767T>A (p.Phe256Tyr) c.821T>A (p.Phe274Tyr) c.932T>A (p.Phe311Tyr) c.946-211075T>A (n.946-211075T>A) | |
6 | g.44230815T>C | CA364307284 | POLR1C,SLC29A1 | c.692T>C (p.Phe231Ser) n.1090T>C c.379T>C n.881T>C c.929T>C (p.Phe310Ser) c.818T>C (p.Phe273Ser) c.770T>C (p.Phe257Ser) c.767T>C (p.Phe256Ser) c.821T>C (p.Phe274Ser) c.932T>C (p.Phe311Ser) c.946-211075T>C (n.946-211075T>C) | gnomAD v4 |
6 | g.44230815T>G | CA364307285 | POLR1C,SLC29A1 | c.692T>G (p.Phe231Cys) n.1090T>G c.379T>G n.881T>G c.929T>G (p.Phe310Cys) c.818T>G (p.Phe273Cys) c.770T>G (p.Phe257Cys) c.767T>G (p.Phe256Cys) c.821T>G (p.Phe274Cys) c.932T>G (p.Phe311Cys) c.946-211075T>G (n.946-211075T>G) | |
6 | g.44230816C>A | CA364307292 | POLR1C,SLC29A1 | c.693C>A (p.Phe231Leu) n.1091C>A c.380C>A n.882C>A c.930C>A (p.Phe310Leu) c.819C>A (p.Phe273Leu) c.771C>A (p.Phe257Leu) c.768C>A (p.Phe256Leu) c.822C>A (p.Phe274Leu) c.933C>A (p.Phe311Leu) c.946-211074C>A (n.946-211074C>A) | |
6 | g.44230816C>G | CA364307289 | POLR1C,SLC29A1 | c.693C>G (p.Phe231Leu) n.1091C>G c.380C>G n.882C>G c.930C>G (p.Phe310Leu) c.819C>G (p.Phe273Leu) c.771C>G (p.Phe257Leu) c.768C>G (p.Phe256Leu) c.822C>G (p.Phe274Leu) c.933C>G (p.Phe311Leu) c.946-211074C>G (n.946-211074C>G) | gnomAD v4 COSMIC COSMIC |
6 | g.44230816C>T | CA450308611 | POLR1C,SLC29A1 | c.693C>T (p.Phe231=) n.1091C>T c.380C>T n.882C>T c.930C>T (p.Phe310=) c.819C>T (p.Phe273=) c.771C>T (p.Phe257=) c.768C>T (p.Phe256=) c.822C>T (p.Phe274=) c.933C>T (p.Phe311=) c.946-211074C>T (n.946-211074C>T) | COSMIC COSMIC |
6 | g.44230817T>A | CA364307301 | POLR1C,SLC29A1 | c.694T>A (p.Tyr232Asn) n.1092T>A c.381T>A n.883T>A c.931T>A (p.Tyr311Asn) c.820T>A (p.Tyr274Asn) c.772T>A (p.Tyr258Asn) c.769T>A (p.Tyr257Asn) c.823T>A (p.Tyr275Asn) c.934T>A (p.Tyr312Asn) c.946-211073T>A (n.946-211073T>A) | |
6 | g.44230817T>C | CA364307311 | POLR1C,SLC29A1 | c.694T>C (p.Tyr232His) n.1092T>C c.381T>C n.883T>C c.931T>C (p.Tyr311His) c.820T>C (p.Tyr274His) c.772T>C (p.Tyr258His) c.769T>C (p.Tyr257His) c.823T>C (p.Tyr275His) c.934T>C (p.Tyr312His) c.946-211073T>C (n.946-211073T>C) | |
6 | g.44230817T>G | CA364307317 | POLR1C,SLC29A1 | c.694T>G (p.Tyr232Asp) n.1092T>G c.381T>G n.883T>G c.931T>G (p.Tyr311Asp) c.820T>G (p.Tyr274Asp) c.772T>G (p.Tyr258Asp) c.769T>G (p.Tyr257Asp) c.823T>G (p.Tyr275Asp) c.934T>G (p.Tyr312Asp) c.946-211073T>G (n.946-211073T>G) | |
6 | g.44230818A>C | CA364307321 | POLR1C,SLC29A1 | c.695A>C (p.Tyr232Ser) n.1093A>C c.382A>C n.884A>C c.932A>C (p.Tyr311Ser) c.821A>C (p.Tyr274Ser) c.773A>C (p.Tyr258Ser) c.770A>C (p.Tyr257Ser) c.824A>C (p.Tyr275Ser) c.935A>C (p.Tyr312Ser) c.946-211072A>C (n.946-211072A>C) | |
6 | g.44230818A>G | CA364307326 | POLR1C,SLC29A1 | c.695A>G (p.Tyr232Cys) n.1093A>G c.382A>G n.884A>G c.932A>G (p.Tyr311Cys) c.821A>G (p.Tyr274Cys) c.773A>G (p.Tyr258Cys) c.770A>G (p.Tyr257Cys) c.824A>G (p.Tyr275Cys) c.935A>G (p.Tyr312Cys) c.946-211072A>G (n.946-211072A>G) | |
6 | g.44230818A>T | CA364307331 | POLR1C,SLC29A1 | c.695A>T (p.Tyr232Phe) n.1093A>T c.382A>T n.884A>T c.932A>T (p.Tyr311Phe) c.821A>T (p.Tyr274Phe) c.773A>T (p.Tyr258Phe) c.770A>T (p.Tyr257Phe) c.824A>T (p.Tyr275Phe) c.935A>T (p.Tyr312Phe) c.946-211072A>T (n.946-211072A>T) | |
6 | g.44230819C>A | CA364307336 | POLR1C,SLC29A1 | c.696C>A (p.Tyr232Ter) n.1094C>A c.383C>A n.885C>A c.933C>A (p.Tyr311Ter) c.822C>A (p.Tyr274Ter) c.774C>A (p.Tyr258Ter) c.771C>A (p.Tyr257Ter) c.825C>A (p.Tyr275Ter) c.936C>A (p.Tyr312Ter) c.946-211071C>A (n.946-211071C>A) | |
6 | g.44230819C>G | CA364307342 | POLR1C,SLC29A1 | c.696C>G (p.Tyr232Ter) n.1094C>G c.383C>G n.885C>G c.933C>G (p.Tyr311Ter) c.822C>G (p.Tyr274Ter) c.774C>G (p.Tyr258Ter) c.771C>G (p.Tyr257Ter) c.825C>G (p.Tyr275Ter) c.936C>G (p.Tyr312Ter) c.946-211071C>G (n.946-211071C>G) | |
6 | g.44230819C>T | CA450308615 | POLR1C,SLC29A1 | c.696C>T (p.Tyr232=) n.1094C>T c.383C>T n.885C>T c.933C>T (p.Tyr311=) c.822C>T (p.Tyr274=) c.774C>T (p.Tyr258=) c.771C>T (p.Tyr257=) c.825C>T (p.Tyr275=) c.936C>T (p.Tyr312=) c.946-211071C>T (n.946-211071C>T) | |
6 | g.44230820C>A | CA138375508 | POLR1C,SLC29A1 | c.697C>A (p.Arg233Ser) n.1095C>A c.384C>A n.886C>A c.934C>A (p.Arg312Ser) c.823C>A (p.Arg275Ser) c.775C>A (p.Arg259Ser) c.772C>A (p.Arg258Ser) c.826C>A (p.Arg276Ser) c.937C>A (p.Arg313Ser) c.946-211070C>A (n.946-211070C>A) | dbSNP |
6 | g.44230820C= | CA1624908939 | POLR1C,SLC29A1 | c.697C= (p.Arg233=) n.1095C= c.384C= n.886C= c.934C= (p.Arg312=) c.823C= (p.Arg275=) c.775C= (p.Arg259=) c.772C= (p.Arg258=) c.826C= (p.Arg276=) c.937C= (p.Arg313=) c.946-211070C= (n.946-211070C=) | |
6 | g.44230820C>G | CA364307353 | POLR1C,SLC29A1 | c.697C>G (p.Arg233Gly) n.1095C>G c.384C>G n.886C>G c.934C>G (p.Arg312Gly) c.823C>G (p.Arg275Gly) c.775C>G (p.Arg259Gly) c.772C>G (p.Arg258Gly) c.826C>G (p.Arg276Gly) c.937C>G (p.Arg313Gly) c.946-211070C>G (n.946-211070C>G) | |
6 | g.44230820C>T | CA3831672 | POLR1C,SLC29A1 | c.697C>T (p.Arg233Cys) n.1095C>T c.384C>T n.886C>T c.934C>T (p.Arg312Cys) c.823C>T (p.Arg275Cys) c.775C>T (p.Arg259Cys) c.772C>T (p.Arg258Cys) c.826C>T (p.Arg276Cys) c.937C>T (p.Arg313Cys) c.946-211070C>T (n.946-211070C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230821G>A | CA3831673 | POLR1C,SLC29A1 | c.698G>A (p.Arg233His) n.1096G>A c.385G>A n.887G>A c.935G>A (p.Arg312His) c.824G>A (p.Arg275His) c.776G>A (p.Arg259His) c.773G>A (p.Arg258His) c.827G>A (p.Arg276His) c.938G>A (p.Arg313His) c.946-211069G>A (n.946-211069G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230821G>C | CA364307366 | POLR1C,SLC29A1 | c.698G>C (p.Arg233Pro) n.1096G>C c.385G>C n.887G>C c.935G>C (p.Arg312Pro) c.824G>C (p.Arg275Pro) c.776G>C (p.Arg259Pro) c.773G>C (p.Arg258Pro) c.827G>C (p.Arg276Pro) c.938G>C (p.Arg313Pro) c.946-211069G>C (n.946-211069G>C) | |
6 | g.44230821G= | CA1624908942 | POLR1C,SLC29A1 | c.698G= (p.Arg233=) n.1096G= c.385G= n.887G= c.935G= (p.Arg312=) c.824G= (p.Arg275=) c.776G= (p.Arg259=) c.773G= (p.Arg258=) c.827G= (p.Arg276=) c.938G= (p.Arg313=) c.946-211069G= (n.946-211069G=) | |
6 | g.44230821G>T | CA364307382 | POLR1C,SLC29A1 | c.698G>T (p.Arg233Leu) n.1096G>T c.385G>T n.887G>T c.935G>T (p.Arg312Leu) c.824G>T (p.Arg275Leu) c.776G>T (p.Arg259Leu) c.773G>T (p.Arg258Leu) c.827G>T (p.Arg276Leu) c.938G>T (p.Arg313Leu) c.946-211069G>T (n.946-211069G>T) | |
6 | g.44230822C>A | CA450308616 | POLR1C,SLC29A1 | c.699C>A (p.Arg233=) n.1097C>A c.386C>A n.888C>A c.936C>A (p.Arg312=) c.825C>A (p.Arg275=) c.777C>A (p.Arg259=) c.774C>A (p.Arg258=) c.828C>A (p.Arg276=) c.939C>A (p.Arg313=) c.946-211068C>A (n.946-211068C>A) | |
6 | g.44230822C>G | CA450308618 | POLR1C,SLC29A1 | c.699C>G (p.Arg233=) n.1097C>G c.386C>G n.888C>G c.936C>G (p.Arg312=) c.825C>G (p.Arg275=) c.777C>G (p.Arg259=) c.774C>G (p.Arg258=) c.828C>G (p.Arg276=) c.939C>G (p.Arg313=) c.946-211068C>G (n.946-211068C>G) | |
6 | g.44230822C>T | CA450308617 | POLR1C,SLC29A1 | c.699C>T (p.Arg233=) n.1097C>T c.386C>T n.888C>T c.936C>T (p.Arg312=) c.825C>T (p.Arg275=) c.777C>T (p.Arg259=) c.774C>T (p.Arg258=) c.828C>T (p.Arg276=) c.939C>T (p.Arg313=) c.946-211068C>T (n.946-211068C>T) | |
6 | g.44230826_44230828del | CA2678935637 | POLR1C,SLC29A1 | c.703_705del (p.Tyr235del) n.1101_1103del c.390_392del n.892_894del c.940_942del (p.Tyr314del) c.829_831del (p.Tyr277del) c.781_783del (p.Tyr261del) c.778_780del (p.Tyr260del) c.832_834del (p.Tyr278del) c.943_945del (p.Tyr315del) c.946-211064_946-211062del (n.946-211064_946-211062del) | gnomAD v4 |
6 | g.44230823T>A | CA364307451 | POLR1C,SLC29A1 | c.700T>A (p.Tyr234Asn) n.1098T>A c.387T>A n.889T>A c.937T>A (p.Tyr313Asn) c.826T>A (p.Tyr276Asn) c.778T>A (p.Tyr260Asn) c.775T>A (p.Tyr259Asn) c.829T>A (p.Tyr277Asn) c.940T>A (p.Tyr314Asn) c.946-211067T>A (n.946-211067T>A) | |
6 | g.44230823T>C | CA364307456 | POLR1C,SLC29A1 | c.700T>C (p.Tyr234His) n.1098T>C c.387T>C n.889T>C c.937T>C (p.Tyr313His) c.826T>C (p.Tyr276His) c.778T>C (p.Tyr260His) c.775T>C (p.Tyr259His) c.829T>C (p.Tyr277His) c.940T>C (p.Tyr314His) c.946-211067T>C (n.946-211067T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230823T>G | CA364307387 | POLR1C,SLC29A1 | c.700T>G (p.Tyr234Asp) n.1098T>G c.387T>G n.889T>G c.937T>G (p.Tyr313Asp) c.826T>G (p.Tyr276Asp) c.778T>G (p.Tyr260Asp) c.775T>G (p.Tyr259Asp) c.829T>G (p.Tyr277Asp) c.940T>G (p.Tyr314Asp) c.946-211067T>G (n.946-211067T>G) | |
6 | g.44230823T= | CA1624908944 | POLR1C,SLC29A1 | c.700T= (p.Tyr234=) n.1098T= c.387T= n.889T= c.937T= (p.Tyr313=) c.826T= (p.Tyr276=) c.778T= (p.Tyr260=) c.775T= (p.Tyr259=) c.829T= (p.Tyr277=) c.940T= (p.Tyr314=) c.946-211067T= (n.946-211067T=) | |
6 | g.44230824A>C | CA364307462 | POLR1C,SLC29A1 | c.701A>C (p.Tyr234Ser) n.1099A>C c.388A>C n.890A>C c.938A>C (p.Tyr313Ser) c.827A>C (p.Tyr276Ser) c.779A>C (p.Tyr260Ser) c.776A>C (p.Tyr259Ser) c.830A>C (p.Tyr277Ser) c.941A>C (p.Tyr314Ser) c.946-211066A>C (n.946-211066A>C) | |
6 | g.44230824A>G | CA364307460 | POLR1C,SLC29A1 | c.701A>G (p.Tyr234Cys) n.1099A>G c.388A>G n.890A>G c.938A>G (p.Tyr313Cys) c.827A>G (p.Tyr276Cys) c.779A>G (p.Tyr260Cys) c.776A>G (p.Tyr259Cys) c.830A>G (p.Tyr277Cys) c.941A>G (p.Tyr314Cys) c.946-211066A>G (n.946-211066A>G) | gnomAD v4 |
6 | g.44230824A>T | CA364307461 | POLR1C,SLC29A1 | c.701A>T (p.Tyr234Phe) n.1099A>T c.388A>T n.890A>T c.938A>T (p.Tyr313Phe) c.827A>T (p.Tyr276Phe) c.779A>T (p.Tyr260Phe) c.776A>T (p.Tyr259Phe) c.830A>T (p.Tyr277Phe) c.941A>T (p.Tyr314Phe) c.946-211066A>T (n.946-211066A>T) | |
6 | g.44230825C>A | CA364307463 | POLR1C,SLC29A1 | c.702C>A (p.Tyr234Ter) n.1100C>A c.389C>A n.891C>A c.939C>A (p.Tyr313Ter) c.828C>A (p.Tyr276Ter) c.780C>A (p.Tyr260Ter) c.777C>A (p.Tyr259Ter) c.831C>A (p.Tyr277Ter) c.942C>A (p.Tyr314Ter) c.946-211065C>A (n.946-211065C>A) | |
6 | g.44230825C= | CA1624908948 | POLR1C,SLC29A1 | c.702C= (p.Tyr234=) n.1100C= c.389C= n.891C= c.939C= (p.Tyr313=) c.828C= (p.Tyr276=) c.780C= (p.Tyr260=) c.777C= (p.Tyr259=) c.831C= (p.Tyr277=) c.942C= (p.Tyr314=) c.946-211065C= (n.946-211065C=) | |
6 | g.44230825C>G | CA364307464 | POLR1C,SLC29A1 | c.702C>G (p.Tyr234Ter) n.1100C>G c.389C>G n.891C>G c.939C>G (p.Tyr313Ter) c.828C>G (p.Tyr276Ter) c.780C>G (p.Tyr260Ter) c.777C>G (p.Tyr259Ter) c.831C>G (p.Tyr277Ter) c.942C>G (p.Tyr314Ter) c.946-211065C>G (n.946-211065C>G) | |
6 | g.44230825C>T | CA3831674 | POLR1C,SLC29A1 | c.702C>T (p.Tyr234=) n.1100C>T c.389C>T n.891C>T c.939C>T (p.Tyr313=) c.828C>T (p.Tyr276=) c.780C>T (p.Tyr260=) c.777C>T (p.Tyr259=) c.831C>T (p.Tyr277=) c.942C>T (p.Tyr314=) c.946-211065C>T (n.946-211065C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230826T>A | CA364307475 | POLR1C,SLC29A1 | c.703T>A (p.Tyr235Asn) n.1101T>A c.390T>A n.892T>A c.940T>A (p.Tyr314Asn) c.829T>A (p.Tyr277Asn) c.781T>A (p.Tyr261Asn) c.778T>A (p.Tyr260Asn) c.832T>A (p.Tyr278Asn) c.943T>A (p.Tyr315Asn) c.946-211064T>A (n.946-211064T>A) | |
6 | g.44230826T>C | CA364307472 | POLR1C,SLC29A1 | c.703T>C (p.Tyr235His) n.1101T>C c.390T>C n.892T>C c.940T>C (p.Tyr314His) c.829T>C (p.Tyr277His) c.781T>C (p.Tyr261His) c.778T>C (p.Tyr260His) c.832T>C (p.Tyr278His) c.943T>C (p.Tyr315His) c.946-211064T>C (n.946-211064T>C) | |
6 | g.44230826T>G | CA364307469 | POLR1C,SLC29A1 | c.703T>G (p.Tyr235Asp) n.1101T>G c.390T>G n.892T>G c.940T>G (p.Tyr314Asp) c.829T>G (p.Tyr277Asp) c.781T>G (p.Tyr261Asp) c.778T>G (p.Tyr260Asp) c.832T>G (p.Tyr278Asp) c.943T>G (p.Tyr315Asp) c.946-211064T>G (n.946-211064T>G) | |
6 | g.44230827A>C | CA364307478 | POLR1C,SLC29A1 | c.704A>C (p.Tyr235Ser) n.1102A>C c.391A>C n.893A>C c.941A>C (p.Tyr314Ser) c.830A>C (p.Tyr277Ser) c.782A>C (p.Tyr261Ser) c.779A>C (p.Tyr260Ser) c.833A>C (p.Tyr278Ser) c.944A>C (p.Tyr315Ser) c.946-211063A>C (n.946-211063A>C) | |
6 | g.44230827A>G | CA364307480 | POLR1C,SLC29A1 | c.704A>G (p.Tyr235Cys) n.1102A>G c.391A>G n.893A>G c.941A>G (p.Tyr314Cys) c.830A>G (p.Tyr277Cys) c.782A>G (p.Tyr261Cys) c.779A>G (p.Tyr260Cys) c.833A>G (p.Tyr278Cys) c.944A>G (p.Tyr315Cys) c.946-211063A>G (n.946-211063A>G) | |
6 | g.44230827A>T | CA364307482 | POLR1C,SLC29A1 | c.704A>T (p.Tyr235Phe) n.1102A>T c.391A>T n.893A>T c.941A>T (p.Tyr314Phe) c.830A>T (p.Tyr277Phe) c.782A>T (p.Tyr261Phe) c.779A>T (p.Tyr260Phe) c.833A>T (p.Tyr278Phe) c.944A>T (p.Tyr315Phe) c.946-211063A>T (n.946-211063A>T) | |
6 | g.44230828C>A | CA364307483 | POLR1C,SLC29A1 | c.705C>A (p.Tyr235Ter) n.1103C>A c.392C>A n.894C>A c.942C>A (p.Tyr314Ter) c.831C>A (p.Tyr277Ter) c.783C>A (p.Tyr261Ter) c.780C>A (p.Tyr260Ter) c.834C>A (p.Tyr278Ter) c.945C>A (p.Tyr315Ter) c.946-211062C>A (n.946-211062C>A) | |
6 | g.44230828C= | CA1624908951 | POLR1C,SLC29A1 | c.705C= (p.Tyr235=) n.1103C= c.392C= n.894C= c.942C= (p.Tyr314=) c.831C= (p.Tyr277=) c.783C= (p.Tyr261=) c.780C= (p.Tyr260=) c.834C= (p.Tyr278=) c.945C= (p.Tyr315=) c.946-211062C= (n.946-211062C=) | |
6 | g.44230828C>G | CA364307484 | POLR1C,SLC29A1 | c.705C>G (p.Tyr235Ter) n.1103C>G c.392C>G n.894C>G c.942C>G (p.Tyr314Ter) c.831C>G (p.Tyr277Ter) c.783C>G (p.Tyr261Ter) c.780C>G (p.Tyr260Ter) c.834C>G (p.Tyr278Ter) c.945C>G (p.Tyr315Ter) c.946-211062C>G (n.946-211062C>G) | |
6 | g.44230828C>T | CA3831675 | POLR1C,SLC29A1 | c.705C>T (p.Tyr235=) n.1103C>T c.392C>T n.894C>T c.942C>T (p.Tyr314=) c.831C>T (p.Tyr277=) c.783C>T (p.Tyr261=) c.780C>T (p.Tyr260=) c.834C>T (p.Tyr278=) c.945C>T (p.Tyr315=) c.946-211062C>T (n.946-211062C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230829C>A | CA364307513 | POLR1C,SLC29A1 | c.706C>A (p.Gln236Lys) n.1104C>A c.393C>A n.895C>A c.943C>A (p.Gln315Lys) c.832C>A (p.Gln278Lys) c.784C>A (p.Gln262Lys) c.781C>A (p.Gln261Lys) c.835C>A (p.Gln279Lys) c.946C>A (p.Gln316Lys) c.946-211061C>A (n.946-211061C>A) | dbSNP |
6 | g.44230829C= | CA1624908955 | POLR1C,SLC29A1 | c.706C= (p.Gln236=) n.1104C= c.393C= n.895C= c.943C= (p.Gln315=) c.832C= (p.Gln278=) c.784C= (p.Gln262=) c.781C= (p.Gln261=) c.835C= (p.Gln279=) c.946C= (p.Gln316=) c.946-211061C= (n.946-211061C=) | |
6 | g.44230829C>G | CA364307523 | POLR1C,SLC29A1 | c.706C>G (p.Gln236Glu) n.1104C>G c.393C>G n.895C>G c.943C>G (p.Gln315Glu) c.832C>G (p.Gln278Glu) c.784C>G (p.Gln262Glu) c.781C>G (p.Gln261Glu) c.835C>G (p.Gln279Glu) c.946C>G (p.Gln316Glu) c.946-211061C>G (n.946-211061C>G) | |
6 | g.44230829C>T | CA364307520 | POLR1C,SLC29A1 | c.706C>T (p.Gln236Ter) n.1104C>T c.393C>T n.895C>T c.943C>T (p.Gln315Ter) c.832C>T (p.Gln278Ter) c.784C>T (p.Gln262Ter) c.781C>T (p.Gln261Ter) c.835C>T (p.Gln279Ter) c.946C>T (p.Gln316Ter) c.946-211061C>T (n.946-211061C>T) | |
6 | g.44230830A>C | CA364307527 | POLR1C,SLC29A1 | c.707A>C (p.Gln236Pro) n.1105A>C c.394A>C n.896A>C c.944A>C (p.Gln315Pro) c.833A>C (p.Gln278Pro) c.785A>C (p.Gln262Pro) c.782A>C (p.Gln261Pro) c.836A>C (p.Gln279Pro) c.947A>C (p.Gln316Pro) c.946-211060A>C (n.946-211060A>C) | |
6 | g.44230830A>G | CA364307530 | POLR1C,SLC29A1 | c.707A>G (p.Gln236Arg) n.1105A>G c.394A>G n.896A>G c.944A>G (p.Gln315Arg) c.833A>G (p.Gln278Arg) c.785A>G (p.Gln262Arg) c.782A>G (p.Gln261Arg) c.836A>G (p.Gln279Arg) c.947A>G (p.Gln316Arg) c.946-211060A>G (n.946-211060A>G) | |
6 | g.44230830A>T | CA364307534 | POLR1C,SLC29A1 | c.707A>T (p.Gln236Leu) n.1105A>T c.394A>T n.896A>T c.944A>T (p.Gln315Leu) c.833A>T (p.Gln278Leu) c.785A>T (p.Gln262Leu) c.782A>T (p.Gln261Leu) c.836A>T (p.Gln279Leu) c.947A>T (p.Gln316Leu) c.946-211060A>T (n.946-211060A>T) | |
6 | g.44230831G>A | CA450308625 | POLR1C,SLC29A1 | c.708G>A (p.Gln236=) n.1106G>A c.395G>A n.897G>A c.945G>A (p.Gln315=) c.834G>A (p.Gln278=) c.786G>A (p.Gln262=) c.783G>A (p.Gln261=) c.837G>A (p.Gln279=) c.948G>A (p.Gln316=) c.946-211059G>A (n.946-211059G>A) | COSMIC |
6 | g.44230831G>C | CA364307553 | POLR1C,SLC29A1 | c.708G>C (p.Gln236His) n.1106G>C c.395G>C n.897G>C c.945G>C (p.Gln315His) c.834G>C (p.Gln278His) c.786G>C (p.Gln262His) c.783G>C (p.Gln261His) c.837G>C (p.Gln279His) c.948G>C (p.Gln316His) c.946-211059G>C (n.946-211059G>C) | |
6 | g.44230831G>T | CA364307557 | POLR1C,SLC29A1 | c.708G>T (p.Gln236His) n.1106G>T c.395G>T n.897G>T c.945G>T (p.Gln315His) c.834G>T (p.Gln278His) c.786G>T (p.Gln262His) c.783G>T (p.Gln261His) c.837G>T (p.Gln279His) c.948G>T (p.Gln316His) c.946-211059G>T (n.946-211059G>T) | |
6 | g.44230832C>A | CA364307564 | POLR1C,SLC29A1 | c.709C>A (p.Gln237Lys) n.1107C>A c.396C>A n.898C>A c.946C>A (p.Gln316Lys) c.835C>A (p.Gln279Lys) c.787C>A (p.Gln263Lys) c.784C>A (p.Gln262Lys) c.838C>A (p.Gln280Lys) c.949C>A (p.Gln317Lys) c.946-211058C>A (n.946-211058C>A) | |
6 | g.44230832C= | CA1624908959 | POLR1C,SLC29A1 | c.709C= (p.Gln237=) n.1107C= c.396C= n.898C= c.946C= (p.Gln316=) c.835C= (p.Gln279=) c.787C= (p.Gln263=) c.784C= (p.Gln262=) c.838C= (p.Gln280=) c.949C= (p.Gln317=) c.946-211058C= (n.946-211058C=) | |
6 | g.44230832C>G | CA364307567 | POLR1C,SLC29A1 | c.709C>G (p.Gln237Glu) n.1107C>G c.396C>G n.898C>G c.946C>G (p.Gln316Glu) c.835C>G (p.Gln279Glu) c.787C>G (p.Gln263Glu) c.784C>G (p.Gln262Glu) c.838C>G (p.Gln280Glu) c.949C>G (p.Gln317Glu) c.946-211058C>G (n.946-211058C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230832C>T | CA364307571 | POLR1C,SLC29A1 | c.709C>T (p.Gln237Ter) n.1107C>T c.396C>T n.898C>T c.946C>T (p.Gln316Ter) c.835C>T (p.Gln279Ter) c.787C>T (p.Gln263Ter) c.784C>T (p.Gln262Ter) c.838C>T (p.Gln280Ter) c.949C>T (p.Gln317Ter) c.946-211058C>T (n.946-211058C>T) | |
6 | g.44230833A= | CA1624908961 | POLR1C,SLC29A1 | c.710A= (p.Gln237=) n.1108A= c.397A= n.899A= c.947A= (p.Gln316=) c.836A= (p.Gln279=) c.788A= (p.Gln263=) c.785A= (p.Gln262=) c.839A= (p.Gln280=) c.950A= (p.Gln317=) c.946-211057A= (n.946-211057A=) | |
6 | g.44230833A>C | CA364307576 | POLR1C,SLC29A1 | c.710A>C (p.Gln237Pro) n.1108A>C c.397A>C n.899A>C c.947A>C (p.Gln316Pro) c.836A>C (p.Gln279Pro) c.788A>C (p.Gln263Pro) c.785A>C (p.Gln262Pro) c.839A>C (p.Gln280Pro) c.950A>C (p.Gln317Pro) c.946-211057A>C (n.946-211057A>C) | dbSNP |
6 | g.44230833A>G | CA364307579 | POLR1C,SLC29A1 | c.710A>G (p.Gln237Arg) n.1108A>G c.397A>G n.899A>G c.947A>G (p.Gln316Arg) c.836A>G (p.Gln279Arg) c.788A>G (p.Gln263Arg) c.785A>G (p.Gln262Arg) c.839A>G (p.Gln280Arg) c.950A>G (p.Gln317Arg) c.946-211057A>G (n.946-211057A>G) | dbSNP gnomAD v2 |
6 | g.44230833A>T | CA3831676 | POLR1C,SLC29A1 | c.710A>T (p.Gln237Leu) n.1108A>T c.397A>T n.899A>T c.947A>T (p.Gln316Leu) c.836A>T (p.Gln279Leu) c.788A>T (p.Gln263Leu) c.785A>T (p.Gln262Leu) c.839A>T (p.Gln280Leu) c.950A>T (p.Gln317Leu) c.946-211057A>T (n.946-211057A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230834G>A | CA450308626 | POLR1C,SLC29A1 | c.711G>A (p.Gln237=) n.1109G>A c.398G>A n.900G>A c.948G>A (p.Gln316=) c.837G>A (p.Gln279=) c.789G>A (p.Gln263=) c.786G>A (p.Gln262=) c.840G>A (p.Gln280=) c.951G>A (p.Gln317=) c.946-211056G>A (n.946-211056G>A) | dbSNP |
6 | g.44230834G>C | CA364307589 | POLR1C,SLC29A1 | c.711G>C (p.Gln237His) n.1109G>C c.398G>C n.900G>C c.948G>C (p.Gln316His) c.837G>C (p.Gln279His) c.789G>C (p.Gln263His) c.786G>C (p.Gln262His) c.840G>C (p.Gln280His) c.951G>C (p.Gln317His) c.946-211056G>C (n.946-211056G>C) | gnomAD v4 |
6 | g.44230834G= | CA1624908965 | POLR1C,SLC29A1 | c.711G= (p.Gln237=) n.1109G= c.398G= n.900G= c.948G= (p.Gln316=) c.837G= (p.Gln279=) c.789G= (p.Gln263=) c.786G= (p.Gln262=) c.840G= (p.Gln280=) c.951G= (p.Gln317=) c.946-211056G= (n.946-211056G=) | |
6 | g.44230834G>T | CA364307587 | POLR1C,SLC29A1 | c.711G>T (p.Gln237His) n.1109G>T c.398G>T n.900G>T c.948G>T (p.Gln316His) c.837G>T (p.Gln279His) c.789G>T (p.Gln263His) c.786G>T (p.Gln262His) c.840G>T (p.Gln280His) c.951G>T (p.Gln317His) c.946-211056G>T (n.946-211056G>T) | |
6 | g.44230835C>A | CA364307595 | POLR1C,SLC29A1 | c.712C>A (p.Leu238Ile) n.1110C>A c.399C>A n.901C>A c.949C>A (p.Leu317Ile) c.838C>A (p.Leu280Ile) c.790C>A (p.Leu264Ile) c.787C>A (p.Leu263Ile) c.841C>A (p.Leu281Ile) c.952C>A (p.Leu318Ile) c.946-211055C>A (n.946-211055C>A) | |
6 | g.44230835C>G | CA364307600 | POLR1C,SLC29A1 | c.712C>G (p.Leu238Val) n.1110C>G c.399C>G n.901C>G c.949C>G (p.Leu317Val) c.838C>G (p.Leu280Val) c.790C>G (p.Leu264Val) c.787C>G (p.Leu263Val) c.841C>G (p.Leu281Val) c.952C>G (p.Leu318Val) c.946-211055C>G (n.946-211055C>G) | |
6 | g.44230835C>T | CA364307596 | POLR1C,SLC29A1 | c.712C>T (p.Leu238Phe) n.1110C>T c.399C>T n.901C>T c.949C>T (p.Leu317Phe) c.838C>T (p.Leu280Phe) c.790C>T (p.Leu264Phe) c.787C>T (p.Leu263Phe) c.841C>T (p.Leu281Phe) c.952C>T (p.Leu318Phe) c.946-211055C>T (n.946-211055C>T) | gnomAD v4 |
6 | g.44230836T>A | CA364307605 | POLR1C,SLC29A1 | c.713T>A (p.Leu238His) n.1111T>A c.400T>A n.902T>A c.950T>A (p.Leu317His) c.839T>A (p.Leu280His) c.791T>A (p.Leu264His) c.788T>A (p.Leu263His) c.842T>A (p.Leu281His) c.953T>A (p.Leu318His) c.946-211054T>A (n.946-211054T>A) | |
6 | g.44230836T>C | CA364307608 | POLR1C,SLC29A1 | c.713T>C (p.Leu238Pro) n.1111T>C c.400T>C n.902T>C c.950T>C (p.Leu317Pro) c.839T>C (p.Leu280Pro) c.791T>C (p.Leu264Pro) c.788T>C (p.Leu263Pro) c.842T>C (p.Leu281Pro) c.953T>C (p.Leu318Pro) c.946-211054T>C (n.946-211054T>C) | |
6 | g.44230836T>G | CA364307612 | POLR1C,SLC29A1 | c.713T>G (p.Leu238Arg) n.1111T>G c.400T>G n.902T>G c.950T>G (p.Leu317Arg) c.839T>G (p.Leu280Arg) c.791T>G (p.Leu264Arg) c.788T>G (p.Leu263Arg) c.842T>G (p.Leu281Arg) c.953T>G (p.Leu318Arg) c.946-211054T>G (n.946-211054T>G) | |
6 | g.44230837C>A | CA450308627 | POLR1C,SLC29A1 | c.714C>A (p.Leu238=) n.1112C>A c.401C>A n.903C>A c.951C>A (p.Leu317=) c.840C>A (p.Leu280=) c.792C>A (p.Leu264=) c.789C>A (p.Leu263=) c.843C>A (p.Leu281=) c.954C>A (p.Leu318=) c.946-211053C>A (n.946-211053C>A) | |
6 | g.44230837C>G | CA450308628 | POLR1C,SLC29A1 | c.714C>G (p.Leu238=) n.1112C>G c.401C>G n.903C>G c.951C>G (p.Leu317=) c.840C>G (p.Leu280=) c.792C>G (p.Leu264=) c.789C>G (p.Leu263=) c.843C>G (p.Leu281=) c.954C>G (p.Leu318=) c.946-211053C>G (n.946-211053C>G) | gnomAD v4 |
6 | g.44230837C>T | CA450308629 | POLR1C,SLC29A1 | c.714C>T (p.Leu238=) n.1112C>T c.401C>T n.903C>T c.951C>T (p.Leu317=) c.840C>T (p.Leu280=) c.792C>T (p.Leu264=) c.789C>T (p.Leu263=) c.843C>T (p.Leu281=) c.954C>T (p.Leu318=) c.946-211053C>T (n.946-211053C>T) | |
6 | g.44230838A= | CA1624908968 | POLR1C,SLC29A1 | c.715A= (p.Lys239=) n.1113A= c.402A= n.904A= c.952A= (p.Lys318=) c.841A= (p.Lys281=) c.793A= (p.Lys265=) c.790A= (p.Lys264=) c.844A= (p.Lys282=) c.955A= (p.Lys319=) c.946-211052A= (n.946-211052A=) | |
6 | g.44230838A>C | CA364307617 | POLR1C,SLC29A1 | c.715A>C (p.Lys239Gln) n.1113A>C c.402A>C n.904A>C c.952A>C (p.Lys318Gln) c.841A>C (p.Lys281Gln) c.793A>C (p.Lys265Gln) c.790A>C (p.Lys264Gln) c.844A>C (p.Lys282Gln) c.955A>C (p.Lys319Gln) c.946-211052A>C (n.946-211052A>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230838A>G | CA364307619 | POLR1C,SLC29A1 | c.715A>G (p.Lys239Glu) n.1113A>G c.402A>G n.904A>G c.952A>G (p.Lys318Glu) c.841A>G (p.Lys281Glu) c.793A>G (p.Lys265Glu) c.790A>G (p.Lys264Glu) c.844A>G (p.Lys282Glu) c.955A>G (p.Lys319Glu) c.946-211052A>G (n.946-211052A>G) | |
6 | g.44230838A>T | CA364307621 | POLR1C,SLC29A1 | c.715A>T (p.Lys239Ter) n.1113A>T c.402A>T n.904A>T c.952A>T (p.Lys318Ter) c.841A>T (p.Lys281Ter) c.793A>T (p.Lys265Ter) c.790A>T (p.Lys264Ter) c.844A>T (p.Lys282Ter) c.955A>T (p.Lys319Ter) c.946-211052A>T (n.946-211052A>T) | |
6 | g.44230839A>C | CA364307625 | POLR1C,SLC29A1 | c.716A>C (p.Lys239Thr) n.1114A>C c.403A>C n.905A>C c.953A>C (p.Lys318Thr) c.842A>C (p.Lys281Thr) c.794A>C (p.Lys265Thr) c.791A>C (p.Lys264Thr) c.845A>C (p.Lys282Thr) c.956A>C (p.Lys319Thr) c.946-211051A>C (n.946-211051A>C) | |
6 | g.44230839A>G | CA364307628 | POLR1C,SLC29A1 | c.716A>G (p.Lys239Arg) n.1114A>G c.403A>G n.905A>G c.953A>G (p.Lys318Arg) c.842A>G (p.Lys281Arg) c.794A>G (p.Lys265Arg) c.791A>G (p.Lys264Arg) c.845A>G (p.Lys282Arg) c.956A>G (p.Lys319Arg) c.946-211051A>G (n.946-211051A>G) | |
6 | g.44230839A>T | CA364307632 | POLR1C,SLC29A1 | c.716A>T (p.Lys239Met) n.1114A>T c.403A>T n.905A>T c.953A>T (p.Lys318Met) c.842A>T (p.Lys281Met) c.794A>T (p.Lys265Met) c.791A>T (p.Lys264Met) c.845A>T (p.Lys282Met) c.956A>T (p.Lys319Met) c.946-211051A>T (n.946-211051A>T) | |
6 | g.44230840G>A | CA450308630 | POLR1C,SLC29A1 | c.717G>A (p.Lys239=) n.1115G>A c.404G>A n.906G>A c.954G>A (p.Lys318=) c.843G>A (p.Lys281=) c.795G>A (p.Lys265=) c.792G>A (p.Lys264=) c.846G>A (p.Lys282=) c.957G>A (p.Lys319=) c.946-211050G>A (n.946-211050G>A) | dbSNP |
6 | g.44230840G>C | CA364307636 | POLR1C,SLC29A1 | c.717G>C (p.Lys239Asn) n.1115G>C c.404G>C n.906G>C c.954G>C (p.Lys318Asn) c.843G>C (p.Lys281Asn) c.795G>C (p.Lys265Asn) c.792G>C (p.Lys264Asn) c.846G>C (p.Lys282Asn) c.957G>C (p.Lys319Asn) c.946-211050G>C (n.946-211050G>C) | |
6 | g.44230840G= | CA1624908970 | POLR1C,SLC29A1 | c.717G= (p.Lys239=) n.1115G= c.404G= n.906G= c.954G= (p.Lys318=) c.843G= (p.Lys281=) c.795G= (p.Lys265=) c.792G= (p.Lys264=) c.846G= (p.Lys282=) c.957G= (p.Lys319=) c.946-211050G= (n.946-211050G=) | |
6 | g.44230840G>T | CA364307640 | POLR1C,SLC29A1 | c.717G>T (p.Lys239Asn) n.1115G>T c.404G>T n.906G>T c.954G>T (p.Lys318Asn) c.843G>T (p.Lys281Asn) c.795G>T (p.Lys265Asn) c.792G>T (p.Lys264Asn) c.846G>T (p.Lys282Asn) c.957G>T (p.Lys319Asn) c.946-211050G>T (n.946-211050G>T) | |
6 | g.44230841C>A | CA364307655 | POLR1C,SLC29A1 | c.718C>A (p.Leu240Ile) n.1116C>A c.405C>A n.907C>A c.955C>A (p.Leu319Ile) c.844C>A (p.Leu282Ile) c.796C>A (p.Leu266Ile) c.793C>A (p.Leu265Ile) c.847C>A (p.Leu283Ile) c.958C>A (p.Leu320Ile) c.946-211049C>A (n.946-211049C>A) | |
6 | g.44230841C= | CA1624908973 | POLR1C,SLC29A1 | c.718C= (p.Leu240=) n.1116C= c.405C= n.907C= c.955C= (p.Leu319=) c.844C= (p.Leu282=) c.796C= (p.Leu266=) c.793C= (p.Leu265=) c.847C= (p.Leu283=) c.958C= (p.Leu320=) c.946-211049C= (n.946-211049C=) | |
6 | g.44230841C>G | CA364307651 | POLR1C,SLC29A1 | c.718C>G (p.Leu240Val) n.1116C>G c.405C>G n.907C>G c.955C>G (p.Leu319Val) c.844C>G (p.Leu282Val) c.796C>G (p.Leu266Val) c.793C>G (p.Leu265Val) c.847C>G (p.Leu283Val) c.958C>G (p.Leu320Val) c.946-211049C>G (n.946-211049C>G) | |
6 | g.44230841C>T | CA364307647 | POLR1C,SLC29A1 | c.718C>T (p.Leu240Phe) n.1116C>T c.405C>T n.907C>T c.955C>T (p.Leu319Phe) c.844C>T (p.Leu282Phe) c.796C>T (p.Leu266Phe) c.793C>T (p.Leu265Phe) c.847C>T (p.Leu283Phe) c.958C>T (p.Leu320Phe) c.946-211049C>T (n.946-211049C>T) | gnomAD v4 |
6 | g.44230842T>A | CA364307669 | POLR1C,SLC29A1 | c.719T>A (p.Leu240His) n.1117T>A c.406T>A n.908T>A c.956T>A (p.Leu319His) c.845T>A (p.Leu282His) c.797T>A (p.Leu266His) c.794T>A (p.Leu265His) c.848T>A (p.Leu283His) c.959T>A (p.Leu320His) c.946-211048T>A (n.946-211048T>A) | |
6 | g.44230842T>C | CA364307672 | POLR1C,SLC29A1 | c.719T>C (p.Leu240Pro) n.1117T>C c.406T>C n.908T>C c.956T>C (p.Leu319Pro) c.845T>C (p.Leu282Pro) c.797T>C (p.Leu266Pro) c.794T>C (p.Leu265Pro) c.848T>C (p.Leu283Pro) c.959T>C (p.Leu320Pro) c.946-211048T>C (n.946-211048T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230842T>G | CA364307675 | POLR1C,SLC29A1 | c.719T>G (p.Leu240Arg) n.1117T>G c.406T>G n.908T>G c.956T>G (p.Leu319Arg) c.845T>G (p.Leu282Arg) c.797T>G (p.Leu266Arg) c.794T>G (p.Leu265Arg) c.848T>G (p.Leu283Arg) c.959T>G (p.Leu320Arg) c.946-211048T>G (n.946-211048T>G) | dbSNP gnomAD v2 |
6 | g.44230842T= | CA1624908976 | POLR1C,SLC29A1 | c.719T= (p.Leu240=) n.1117T= c.406T= n.908T= c.956T= (p.Leu319=) c.845T= (p.Leu282=) c.797T= (p.Leu266=) c.794T= (p.Leu265=) c.848T= (p.Leu283=) c.959T= (p.Leu320=) c.946-211048T= (n.946-211048T=) | |
6 | g.44230843dup | CA1624908975 | POLR1C,SLC29A1 | c.720dup (p.Glu241Ter) n.1118dup c.407dup n.909dup c.957dup (p.Glu320Ter) c.846dup (p.Glu283Ter) c.798dup (p.Glu267Ter) c.795dup (p.Glu266Ter) c.849dup (p.Glu284Ter) c.960dup (p.Glu321Ter) c.946-211047dup (n.946-211047dup) | dbSNP |
6 | g.44230843T>A | CA450308631 | POLR1C,SLC29A1 | c.720T>A (p.Leu240=) n.1118T>A c.407T>A n.909T>A c.957T>A (p.Leu319=) c.846T>A (p.Leu282=) c.798T>A (p.Leu266=) c.795T>A (p.Leu265=) c.849T>A (p.Leu283=) c.960T>A (p.Leu320=) c.946-211047T>A (n.946-211047T>A) | |
6 | g.44230843T>C | CA450308632 | POLR1C,SLC29A1 | c.720T>C (p.Leu240=) n.1118T>C c.407T>C n.909T>C c.957T>C (p.Leu319=) c.846T>C (p.Leu282=) c.798T>C (p.Leu266=) c.795T>C (p.Leu265=) c.849T>C (p.Leu283=) c.960T>C (p.Leu320=) c.946-211047T>C (n.946-211047T>C) | |
6 | g.44230843T>G | CA3831677 | POLR1C,SLC29A1 | c.720T>G (p.Leu240=) n.1118T>G c.407T>G n.909T>G c.957T>G (p.Leu319=) c.846T>G (p.Leu282=) c.798T>G (p.Leu266=) c.795T>G (p.Leu265=) c.849T>G (p.Leu283=) c.960T>G (p.Leu320=) c.946-211047T>G (n.946-211047T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230843T= | CA1624908981 | POLR1C,SLC29A1 | c.720T= (p.Leu240=) n.1118T= c.407T= n.909T= c.957T= (p.Leu319=) c.846T= (p.Leu282=) c.798T= (p.Leu266=) c.795T= (p.Leu265=) c.849T= (p.Leu283=) c.960T= (p.Leu320=) c.946-211047T= (n.946-211047T=) | |
6 | g.44230844G>A | CA364307680 | POLR1C,SLC29A1 | c.721G>A (p.Glu241Lys) n.1119G>A c.408G>A n.910G>A c.958G>A (p.Glu320Lys) c.847G>A (p.Glu283Lys) c.799G>A (p.Glu267Lys) c.796G>A (p.Glu266Lys) c.850G>A (p.Glu284Lys) c.961G>A (p.Glu321Lys) c.946-211046G>A (n.946-211046G>A) | |
6 | g.44230844G>C | CA364307685 | POLR1C,SLC29A1 | c.721G>C (p.Glu241Gln) n.1119G>C c.408G>C n.910G>C c.958G>C (p.Glu320Gln) c.847G>C (p.Glu283Gln) c.799G>C (p.Glu267Gln) c.796G>C (p.Glu266Gln) c.850G>C (p.Glu284Gln) c.961G>C (p.Glu321Gln) c.946-211046G>C (n.946-211046G>C) | |
6 | g.44230844G>T | CA364307693 | POLR1C,SLC29A1 | c.721G>T (p.Glu241Ter) n.1119G>T c.408G>T n.910G>T c.958G>T (p.Glu320Ter) c.847G>T (p.Glu283Ter) c.799G>T (p.Glu267Ter) c.796G>T (p.Glu266Ter) c.850G>T (p.Glu284Ter) c.961G>T (p.Glu321Ter) c.946-211046G>T (n.946-211046G>T) | |
6 | g.44230845A= | CA1624908984 | POLR1C,SLC29A1 | c.722A= (p.Glu241=) n.1120A= c.409A= n.911A= c.959A= (p.Glu320=) c.848A= (p.Glu283=) c.800A= (p.Glu267=) c.797A= (p.Glu266=) c.851A= (p.Glu284=) c.962A= (p.Glu321=) c.946-211045A= (n.946-211045A=) | |
6 | g.44230845A>C | CA364307699 | POLR1C,SLC29A1 | c.722A>C (p.Glu241Ala) n.1120A>C c.409A>C n.911A>C c.959A>C (p.Glu320Ala) c.848A>C (p.Glu283Ala) c.800A>C (p.Glu267Ala) c.797A>C (p.Glu266Ala) c.851A>C (p.Glu284Ala) c.962A>C (p.Glu321Ala) c.946-211045A>C (n.946-211045A>C) | |
6 | g.44230845A>G | CA3831678 | POLR1C,SLC29A1 | c.722A>G (p.Glu241Gly) n.1120A>G c.409A>G n.911A>G c.959A>G (p.Glu320Gly) c.848A>G (p.Glu283Gly) c.800A>G (p.Glu267Gly) c.797A>G (p.Glu266Gly) c.851A>G (p.Glu284Gly) c.962A>G (p.Glu321Gly) c.946-211045A>G (n.946-211045A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44230845A>T | CA364307704 | POLR1C,SLC29A1 | c.722A>T (p.Glu241Val) n.1120A>T c.409A>T n.911A>T c.959A>T (p.Glu320Val) c.848A>T (p.Glu283Val) c.800A>T (p.Glu267Val) c.797A>T (p.Glu266Val) c.851A>T (p.Glu284Val) c.962A>T (p.Glu321Val) c.946-211045A>T (n.946-211045A>T) | gnomAD v4 |
6 | g.44230846A>C | CA364307706 | POLR1C,SLC29A1 | c.723A>C (p.Glu241Asp) n.1121A>C c.410A>C n.912A>C c.960A>C (p.Glu320Asp) c.849A>C (p.Glu283Asp) c.801A>C (p.Glu267Asp) c.798A>C (p.Glu266Asp) c.852A>C (p.Glu284Asp) c.963A>C (p.Glu321Asp) c.946-211044A>C (n.946-211044A>C) | |
6 | g.44230846A>G | CA450308633 | POLR1C,SLC29A1 | c.723A>G (p.Glu241=) n.1121A>G c.410A>G n.912A>G c.960A>G (p.Glu320=) c.849A>G (p.Glu283=) c.801A>G (p.Glu267=) c.798A>G (p.Glu266=) c.852A>G (p.Glu284=) c.963A>G (p.Glu321=) c.946-211044A>G (n.946-211044A>G) | COSMIC COSMIC |
6 | g.44230846A>T | CA364307708 | POLR1C,SLC29A1 | c.723A>T (p.Glu241Asp) n.1121A>T c.410A>T n.912A>T c.960A>T (p.Glu320Asp) c.849A>T (p.Glu283Asp) c.801A>T (p.Glu267Asp) c.798A>T (p.Glu266Asp) c.852A>T (p.Glu284Asp) c.963A>T (p.Glu321Asp) c.946-211044A>T (n.946-211044A>T) | |
6 | g.44230847G>A | CA364307718 | POLR1C,SLC29A1 | c.724G>A (p.Gly242Arg) n.1122G>A c.411G>A n.913G>A c.961G>A (p.Gly321Arg) c.850G>A (p.Gly284Arg) c.802G>A (p.Gly268Arg) c.799G>A (p.Gly267Arg) c.853G>A (p.Gly285Arg) c.964G>A (p.Gly322Arg) c.946-211043G>A (n.946-211043G>A) | gnomAD v4 |
6 | g.44230847G>C | CA364307717 | POLR1C,SLC29A1 | c.724G>C (p.Gly242Arg) n.1122G>C c.411G>C n.913G>C c.961G>C (p.Gly321Arg) c.850G>C (p.Gly284Arg) c.802G>C (p.Gly268Arg) c.799G>C (p.Gly267Arg) c.853G>C (p.Gly285Arg) c.964G>C (p.Gly322Arg) c.946-211043G>C (n.946-211043G>C) | |
6 | g.44230847G>T | CA364307716 | POLR1C,SLC29A1 | c.724G>T (p.Gly242Ter) n.1122G>T c.411G>T n.913G>T c.961G>T (p.Gly321Ter) c.850G>T (p.Gly284Ter) c.802G>T (p.Gly268Ter) c.799G>T (p.Gly267Ter) c.853G>T (p.Gly285Ter) c.964G>T (p.Gly322Ter) c.946-211043G>T (n.946-211043G>T) | |
6 | g.44230848G>A | CA364307719 | POLR1C,SLC29A1 | c.725G>A (p.Gly242Glu) n.1123G>A c.412G>A n.914G>A c.962G>A (p.Gly321Glu) c.851G>A (p.Gly284Glu) c.803G>A (p.Gly268Glu) c.800G>A (p.Gly267Glu) c.854G>A (p.Gly285Glu) c.965G>A (p.Gly322Glu) c.946-211042G>A (n.946-211042G>A) | |
6 | g.44230848G>C | CA364307721 | POLR1C,SLC29A1 | c.725G>C (p.Gly242Ala) n.1123G>C c.412G>C n.914G>C c.962G>C (p.Gly321Ala) c.851G>C (p.Gly284Ala) c.803G>C (p.Gly268Ala) c.800G>C (p.Gly267Ala) c.854G>C (p.Gly285Ala) c.965G>C (p.Gly322Ala) c.946-211042G>C (n.946-211042G>C) | |
6 | g.44230848G>T | CA364307720 | POLR1C,SLC29A1 | c.725G>T (p.Gly242Val) n.1123G>T c.412G>T n.914G>T c.962G>T (p.Gly321Val) c.851G>T (p.Gly284Val) c.803G>T (p.Gly268Val) c.800G>T (p.Gly267Val) c.854G>T (p.Gly285Val) c.965G>T (p.Gly322Val) c.946-211042G>T (n.946-211042G>T) | |
6 | g.44230849A>C | CA450308637 | POLR1C,SLC29A1 | c.726A>C (p.Gly242=) n.1124A>C c.413A>C n.915A>C c.963A>C (p.Gly321=) c.852A>C (p.Gly284=) c.804A>C (p.Gly268=) c.801A>C (p.Gly267=) c.855A>C (p.Gly285=) c.966A>C (p.Gly322=) c.946-211041A>C (n.946-211041A>C) | |
6 | g.44230849A>G | CA450308638 | POLR1C,SLC29A1 | c.726A>G (p.Gly242=) n.1124A>G c.413A>G n.915A>G c.963A>G (p.Gly321=) c.852A>G (p.Gly284=) c.804A>G (p.Gly268=) c.801A>G (p.Gly267=) c.855A>G (p.Gly285=) c.966A>G (p.Gly322=) c.946-211041A>G (n.946-211041A>G) | |
6 | g.44230849A>T | CA450308639 | POLR1C,SLC29A1 | c.726A>T (p.Gly242=) n.1124A>T c.413A>T n.915A>T c.963A>T (p.Gly321=) c.852A>T (p.Gly284=) c.804A>T (p.Gly268=) c.801A>T (p.Gly267=) c.855A>T (p.Gly285=) c.966A>T (p.Gly322=) c.946-211041A>T (n.946-211041A>T) | |
6 | g.44230850C>A | CA364307722 | POLR1C,SLC29A1 | c.727C>A (p.Pro243Thr) n.1125C>A c.414C>A n.916C>A c.964C>A (p.Pro322Thr) c.853C>A (p.Pro285Thr) c.805C>A (p.Pro269Thr) c.802C>A (p.Pro268Thr) c.856C>A (p.Pro286Thr) c.967C>A (p.Pro323Thr) c.946-211040C>A (n.946-211040C>A) | |
6 | g.44230850C>G | CA364307725 | POLR1C,SLC29A1 | c.727C>G (p.Pro243Ala) n.1125C>G c.414C>G n.916C>G c.964C>G (p.Pro322Ala) c.853C>G (p.Pro285Ala) c.805C>G (p.Pro269Ala) c.802C>G (p.Pro268Ala) c.856C>G (p.Pro286Ala) c.967C>G (p.Pro323Ala) c.946-211040C>G (n.946-211040C>G) | |
6 | g.44230850C>T | CA364307728 | POLR1C,SLC29A1 | c.727C>T (p.Pro243Ser) n.1125C>T c.414C>T n.916C>T c.964C>T (p.Pro322Ser) c.853C>T (p.Pro285Ser) c.805C>T (p.Pro269Ser) c.802C>T (p.Pro268Ser) c.856C>T (p.Pro286Ser) c.967C>T (p.Pro323Ser) c.946-211040C>T (n.946-211040C>T) | |
6 | g.44230851C>A | CA364307733 | POLR1C,SLC29A1 | c.728C>A (p.Pro243His) n.1126C>A c.415C>A n.917C>A c.965C>A (p.Pro322His) c.854C>A (p.Pro285His) c.806C>A (p.Pro269His) c.803C>A (p.Pro268His) c.857C>A (p.Pro286His) c.968C>A (p.Pro323His) c.946-211039C>A (n.946-211039C>A) | |
6 | g.44230851C= | CA1624908987 | POLR1C,SLC29A1 | c.728C= (p.Pro243=) n.1126C= c.415C= n.917C= c.965C= (p.Pro322=) c.854C= (p.Pro285=) c.806C= (p.Pro269=) c.803C= (p.Pro268=) c.857C= (p.Pro286=) c.968C= (p.Pro323=) c.946-211039C= (n.946-211039C=) | |
6 | g.44230851C>G | CA138375560 | POLR1C,SLC29A1 | c.728C>G (p.Pro243Arg) n.1126C>G c.415C>G n.917C>G c.965C>G (p.Pro322Arg) c.854C>G (p.Pro285Arg) c.806C>G (p.Pro269Arg) c.803C>G (p.Pro268Arg) c.857C>G (p.Pro286Arg) c.968C>G (p.Pro323Arg) c.946-211039C>G (n.946-211039C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230851C>T | CA364307743 | POLR1C,SLC29A1 | c.728C>T (p.Pro243Leu) n.1126C>T c.415C>T n.917C>T c.965C>T (p.Pro322Leu) c.854C>T (p.Pro285Leu) c.806C>T (p.Pro269Leu) c.803C>T (p.Pro268Leu) c.857C>T (p.Pro286Leu) c.968C>T (p.Pro323Leu) c.946-211039C>T (n.946-211039C>T) | gnomAD v4 |
6 | g.44230852C>A | CA3831680 | POLR1C,SLC29A1 | c.729C>A (p.Pro243=) n.1127C>A c.416C>A n.918C>A c.966C>A (p.Pro322=) c.855C>A (p.Pro285=) c.807C>A (p.Pro269=) c.804C>A (p.Pro268=) c.858C>A (p.Pro286=) c.969C>A (p.Pro323=) c.946-211038C>A (n.946-211038C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230852C= | CA1624908989 | POLR1C,SLC29A1 | c.729C= (p.Pro243=) n.1127C= c.416C= n.918C= c.966C= (p.Pro322=) c.855C= (p.Pro285=) c.807C= (p.Pro269=) c.804C= (p.Pro268=) c.858C= (p.Pro286=) c.969C= (p.Pro323=) c.946-211038C= (n.946-211038C=) | |
6 | g.44230852C>G | CA450308642 | POLR1C,SLC29A1 | c.729C>G (p.Pro243=) n.1127C>G c.416C>G n.918C>G c.966C>G (p.Pro322=) c.855C>G (p.Pro285=) c.807C>G (p.Pro269=) c.804C>G (p.Pro268=) c.858C>G (p.Pro286=) c.969C>G (p.Pro323=) c.946-211038C>G (n.946-211038C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230852C>T | CA3831679 | POLR1C,SLC29A1 | c.729C>T (p.Pro243=) n.1127C>T c.416C>T n.918C>T c.966C>T (p.Pro322=) c.855C>T (p.Pro285=) c.807C>T (p.Pro269=) c.804C>T (p.Pro268=) c.858C>T (p.Pro286=) c.969C>T (p.Pro323=) c.946-211038C>T (n.946-211038C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230853G>A | CA3831681 | POLR1C,SLC29A1 | c.730G>A (p.Gly244Arg) n.1128G>A c.417G>A n.919G>A c.967G>A (p.Gly323Arg) c.856G>A (p.Gly286Arg) c.808G>A (p.Gly270Arg) c.805G>A (p.Gly269Arg) c.859G>A (p.Gly287Arg) c.970G>A (p.Gly324Arg) c.946-211037G>A (n.946-211037G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230853G>C | CA364307766 | POLR1C,SLC29A1 | c.730G>C (p.Gly244Arg) n.1128G>C c.417G>C n.919G>C c.967G>C (p.Gly323Arg) c.856G>C (p.Gly286Arg) c.808G>C (p.Gly270Arg) c.805G>C (p.Gly269Arg) c.859G>C (p.Gly287Arg) c.970G>C (p.Gly324Arg) c.946-211037G>C (n.946-211037G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230853G= | CA1624908994 | POLR1C,SLC29A1 | c.730G= (p.Gly244=) n.1128G= c.417G= n.919G= c.967G= (p.Gly323=) c.856G= (p.Gly286=) c.808G= (p.Gly270=) c.805G= (p.Gly269=) c.859G= (p.Gly287=) c.970G= (p.Gly324=) c.946-211037G= (n.946-211037G=) | |
6 | g.44230853G>T | CA138375572 | POLR1C,SLC29A1 | c.730G>T (p.Gly244Trp) n.1128G>T c.417G>T n.919G>T c.967G>T (p.Gly323Trp) c.856G>T (p.Gly286Trp) c.808G>T (p.Gly270Trp) c.805G>T (p.Gly269Trp) c.859G>T (p.Gly287Trp) c.970G>T (p.Gly324Trp) c.946-211037G>T (n.946-211037G>T) | dbSNP gnomAD v4 |
6 | g.44230856del | CA2678935696 | POLR1C,SLC29A1 | c.733del (p.Glu245SerfsTer?) n.1131del c.420del n.922del c.970del (p.Glu324SerfsTer?) c.859del (p.Glu287SerfsTer?) c.811del (p.Glu271SerfsTer?) c.808del (p.Glu270SerfsTer?) c.862del (p.Glu288SerfsTer?) c.973del (p.Glu325SerfsTer?) c.946-211034del (n.946-211034del) | gnomAD v4 |
6 | g.44230854G>A | CA364307782 | POLR1C,SLC29A1 | c.731G>A (p.Gly244Glu) n.1129G>A c.418G>A n.920G>A c.968G>A (p.Gly323Glu) c.857G>A (p.Gly286Glu) c.809G>A (p.Gly270Glu) c.806G>A (p.Gly269Glu) c.860G>A (p.Gly287Glu) c.971G>A (p.Gly324Glu) c.946-211036G>A (n.946-211036G>A) | |
6 | g.44230854G>C | CA364307783 | POLR1C,SLC29A1 | c.731G>C (p.Gly244Ala) n.1129G>C c.418G>C n.920G>C c.968G>C (p.Gly323Ala) c.857G>C (p.Gly286Ala) c.809G>C (p.Gly270Ala) c.806G>C (p.Gly269Ala) c.860G>C (p.Gly287Ala) c.971G>C (p.Gly324Ala) c.946-211036G>C (n.946-211036G>C) | dbSNP |
6 | g.44230854G= | CA1624908998 | POLR1C,SLC29A1 | c.731G= (p.Gly244=) n.1129G= c.418G= n.920G= c.968G= (p.Gly323=) c.857G= (p.Gly286=) c.809G= (p.Gly270=) c.806G= (p.Gly269=) c.860G= (p.Gly287=) c.971G= (p.Gly324=) c.946-211036G= (n.946-211036G=) | |
6 | g.44230854G>T | CA364307784 | POLR1C,SLC29A1 | c.731G>T (p.Gly244Val) n.1129G>T c.418G>T n.920G>T c.968G>T (p.Gly323Val) c.857G>T (p.Gly286Val) c.809G>T (p.Gly270Val) c.806G>T (p.Gly269Val) c.860G>T (p.Gly287Val) c.971G>T (p.Gly324Val) c.946-211036G>T (n.946-211036G>T) | |
6 | g.44230855G>A | CA450308645 | POLR1C,SLC29A1 | c.732G>A (p.Gly244=) n.1130G>A c.419G>A n.921G>A c.969G>A (p.Gly323=) c.858G>A (p.Gly286=) c.810G>A (p.Gly270=) c.807G>A (p.Gly269=) c.861G>A (p.Gly287=) c.972G>A (p.Gly324=) c.946-211035G>A (n.946-211035G>A) | COSMIC |
6 | g.44230855G>C | CA450308647 | POLR1C,SLC29A1 | c.732G>C (p.Gly244=) n.1130G>C c.419G>C n.921G>C c.969G>C (p.Gly323=) c.858G>C (p.Gly286=) c.810G>C (p.Gly270=) c.807G>C (p.Gly269=) c.861G>C (p.Gly287=) c.972G>C (p.Gly324=) c.946-211035G>C (n.946-211035G>C) | |
6 | g.44230855G>T | CA450308649 | POLR1C,SLC29A1 | c.732G>T (p.Gly244=) n.1130G>T c.419G>T n.921G>T c.969G>T (p.Gly323=) c.858G>T (p.Gly286=) c.810G>T (p.Gly270=) c.807G>T (p.Gly269=) c.861G>T (p.Gly287=) c.972G>T (p.Gly324=) c.946-211035G>T (n.946-211035G>T) | |
6 | g.44230856G>A | CA364307789 | POLR1C,SLC29A1 | c.733G>A (p.Glu245Lys) n.1131G>A c.420G>A n.922G>A c.970G>A (p.Glu324Lys) c.859G>A (p.Glu287Lys) c.811G>A (p.Glu271Lys) c.808G>A (p.Glu270Lys) c.862G>A (p.Glu288Lys) c.973G>A (p.Glu325Lys) c.946-211034G>A (n.946-211034G>A) | |
6 | g.44230856G>C | CA364307801 | POLR1C,SLC29A1 | c.733G>C (p.Glu245Gln) n.1131G>C c.420G>C n.922G>C c.970G>C (p.Glu324Gln) c.859G>C (p.Glu287Gln) c.811G>C (p.Glu271Gln) c.808G>C (p.Glu270Gln) c.862G>C (p.Glu288Gln) c.973G>C (p.Glu325Gln) c.946-211034G>C (n.946-211034G>C) | |
6 | g.44230856G>T | CA364307798 | POLR1C,SLC29A1 | c.733G>T (p.Glu245Ter) n.1131G>T c.420G>T n.922G>T c.970G>T (p.Glu324Ter) c.859G>T (p.Glu287Ter) c.811G>T (p.Glu271Ter) c.808G>T (p.Glu270Ter) c.862G>T (p.Glu288Ter) c.973G>T (p.Glu325Ter) c.946-211034G>T (n.946-211034G>T) | |
6 | g.44230857A>C | CA364307802 | POLR1C,SLC29A1 | c.734A>C (p.Glu245Ala) n.1132A>C c.421A>C n.923A>C c.971A>C (p.Glu324Ala) c.860A>C (p.Glu287Ala) c.812A>C (p.Glu271Ala) c.809A>C (p.Glu270Ala) c.863A>C (p.Glu288Ala) c.974A>C (p.Glu325Ala) c.946-211033A>C (n.946-211033A>C) | |
6 | g.44230857A>G | CA364307803 | POLR1C,SLC29A1 | c.734A>G (p.Glu245Gly) n.1132A>G c.421A>G n.923A>G c.971A>G (p.Glu324Gly) c.860A>G (p.Glu287Gly) c.812A>G (p.Glu271Gly) c.809A>G (p.Glu270Gly) c.863A>G (p.Glu288Gly) c.974A>G (p.Glu325Gly) c.946-211033A>G (n.946-211033A>G) | |
6 | g.44230857A>T | CA364307805 | POLR1C,SLC29A1 | c.734A>T (p.Glu245Val) n.1132A>T c.421A>T n.923A>T c.971A>T (p.Glu324Val) c.860A>T (p.Glu287Val) c.812A>T (p.Glu271Val) c.809A>T (p.Glu270Val) c.863A>T (p.Glu288Val) c.974A>T (p.Glu325Val) c.946-211033A>T (n.946-211033A>T) | |
6 | g.44230858G>A | CA450308651 | POLR1C,SLC29A1 | c.735G>A (p.Glu245=) n.1133G>A c.422G>A n.924G>A c.972G>A (p.Glu324=) c.861G>A (p.Glu287=) c.813G>A (p.Glu271=) c.810G>A (p.Glu270=) c.864G>A (p.Glu288=) c.975G>A (p.Glu325=) c.946-211032G>A (n.946-211032G>A) | gnomAD v4 |
6 | g.44230858G>C | CA364307808 | POLR1C,SLC29A1 | c.735G>C (p.Glu245Asp) n.1133G>C c.422G>C n.924G>C c.972G>C (p.Glu324Asp) c.861G>C (p.Glu287Asp) c.813G>C (p.Glu271Asp) c.810G>C (p.Glu270Asp) c.864G>C (p.Glu288Asp) c.975G>C (p.Glu325Asp) c.946-211032G>C (n.946-211032G>C) | |
6 | g.44230858G>T | CA364307810 | POLR1C,SLC29A1 | c.735G>T (p.Glu245Asp) n.1133G>T c.422G>T n.924G>T c.972G>T (p.Glu324Asp) c.861G>T (p.Glu287Asp) c.813G>T (p.Glu271Asp) c.810G>T (p.Glu270Asp) c.864G>T (p.Glu288Asp) c.975G>T (p.Glu325Asp) c.946-211032G>T (n.946-211032G>T) | |
6 | g.44230859C>A | CA364307817 | POLR1C,SLC29A1 | c.736C>A (p.Gln246Lys) n.1134C>A c.423C>A n.925C>A c.973C>A (p.Gln325Lys) c.862C>A (p.Gln288Lys) c.814C>A (p.Gln272Lys) c.811C>A (p.Gln271Lys) c.865C>A (p.Gln289Lys) c.976C>A (p.Gln326Lys) c.946-211031C>A (n.946-211031C>A) | |
6 | g.44230859C>G | CA364307823 | POLR1C,SLC29A1 | c.736C>G (p.Gln246Glu) n.1134C>G c.423C>G n.925C>G c.973C>G (p.Gln325Glu) c.862C>G (p.Gln288Glu) c.814C>G (p.Gln272Glu) c.811C>G (p.Gln271Glu) c.865C>G (p.Gln289Glu) c.976C>G (p.Gln326Glu) c.946-211031C>G (n.946-211031C>G) | |
6 | g.44230859C>T | CA364307826 | POLR1C,SLC29A1 | c.736C>T (p.Gln246Ter) n.1134C>T c.423C>T n.925C>T c.973C>T (p.Gln325Ter) c.862C>T (p.Gln288Ter) c.814C>T (p.Gln272Ter) c.811C>T (p.Gln271Ter) c.865C>T (p.Gln289Ter) c.976C>T (p.Gln326Ter) c.946-211031C>T (n.946-211031C>T) | |
6 | g.44230860A>C | CA364307831 | POLR1C,SLC29A1 | c.737A>C (p.Gln246Pro) n.1135A>C c.424A>C n.926A>C c.974A>C (p.Gln325Pro) c.863A>C (p.Gln288Pro) c.815A>C (p.Gln272Pro) c.812A>C (p.Gln271Pro) c.866A>C (p.Gln289Pro) c.977A>C (p.Gln326Pro) c.946-211030A>C (n.946-211030A>C) | |
6 | g.44230860A>G | CA364307833 | POLR1C,SLC29A1 | c.737A>G (p.Gln246Arg) n.1135A>G c.424A>G n.926A>G c.974A>G (p.Gln325Arg) c.863A>G (p.Gln288Arg) c.815A>G (p.Gln272Arg) c.812A>G (p.Gln271Arg) c.866A>G (p.Gln289Arg) c.977A>G (p.Gln326Arg) c.946-211030A>G (n.946-211030A>G) | |
6 | g.44230860A>T | CA364307834 | POLR1C,SLC29A1 | c.737A>T (p.Gln246Leu) n.1135A>T c.424A>T n.926A>T c.974A>T (p.Gln325Leu) c.863A>T (p.Gln288Leu) c.815A>T (p.Gln272Leu) c.812A>T (p.Gln271Leu) c.866A>T (p.Gln289Leu) c.977A>T (p.Gln326Leu) c.946-211030A>T (n.946-211030A>T) | |
6 | g.44230861G>A | CA450308654 | POLR1C,SLC29A1 | c.738G>A (p.Gln246=) n.1136G>A c.425G>A n.927G>A c.975G>A (p.Gln325=) c.864G>A (p.Gln288=) c.816G>A (p.Gln272=) c.813G>A (p.Gln271=) c.867G>A (p.Gln289=) c.978G>A (p.Gln326=) c.946-211029G>A (n.946-211029G>A) | |
6 | g.44230861G>C | CA364307836 | POLR1C,SLC29A1 | c.738G>C (p.Gln246His) n.1136G>C c.425G>C n.927G>C c.975G>C (p.Gln325His) c.864G>C (p.Gln288His) c.816G>C (p.Gln272His) c.813G>C (p.Gln271His) c.867G>C (p.Gln289His) c.978G>C (p.Gln326His) c.946-211029G>C (n.946-211029G>C) | |
6 | g.44230861G>T | CA364307839 | POLR1C,SLC29A1 | c.738G>T (p.Gln246His) n.1136G>T c.425G>T n.927G>T c.975G>T (p.Gln325His) c.864G>T (p.Gln288His) c.816G>T (p.Gln272His) c.813G>T (p.Gln271His) c.867G>T (p.Gln289His) c.978G>T (p.Gln326His) c.946-211029G>T (n.946-211029G>T) | |
6 | g.44230862G>A | CA364307844 | POLR1C,SLC29A1 | c.739G>A (p.Glu247Lys) n.1137G>A c.426G>A n.928G>A c.976G>A (p.Glu326Lys) c.865G>A (p.Glu289Lys) c.817G>A (p.Glu273Lys) c.814G>A (p.Glu272Lys) c.868G>A (p.Glu290Lys) c.979G>A (p.Glu327Lys) c.946-211028G>A (n.946-211028G>A) | |
6 | g.44230862G>C | CA364307851 | POLR1C,SLC29A1 | c.739G>C (p.Glu247Gln) n.1137G>C c.426G>C n.928G>C c.976G>C (p.Glu326Gln) c.865G>C (p.Glu289Gln) c.817G>C (p.Glu273Gln) c.814G>C (p.Glu272Gln) c.868G>C (p.Glu290Gln) c.979G>C (p.Glu327Gln) c.946-211028G>C (n.946-211028G>C) | |
6 | g.44230862G>T | CA364307847 | POLR1C,SLC29A1 | c.739G>T (p.Glu247Ter) n.1137G>T c.426G>T n.928G>T c.976G>T (p.Glu326Ter) c.865G>T (p.Glu289Ter) c.817G>T (p.Glu273Ter) c.814G>T (p.Glu272Ter) c.868G>T (p.Glu290Ter) c.979G>T (p.Glu327Ter) c.946-211028G>T (n.946-211028G>T) | |
6 | g.44230863A= | CA1624909002 | POLR1C,SLC29A1 | c.740A= (p.Glu247=) n.1138A= c.427A= n.929A= c.977A= (p.Glu326=) c.866A= (p.Glu289=) c.818A= (p.Glu273=) c.815A= (p.Glu272=) c.869A= (p.Glu290=) c.980A= (p.Glu327=) c.946-211027A= (n.946-211027A=) | |
6 | g.44230863A>C | CA364307869 | POLR1C,SLC29A1 | c.740A>C (p.Glu247Ala) n.1138A>C c.427A>C n.929A>C c.977A>C (p.Glu326Ala) c.866A>C (p.Glu289Ala) c.818A>C (p.Glu273Ala) c.815A>C (p.Glu272Ala) c.869A>C (p.Glu290Ala) c.980A>C (p.Glu327Ala) c.946-211027A>C (n.946-211027A>C) | |
6 | g.44230863A>G | CA364307873 | POLR1C,SLC29A1 | c.740A>G (p.Glu247Gly) n.1138A>G c.427A>G n.929A>G c.977A>G (p.Glu326Gly) c.866A>G (p.Glu289Gly) c.818A>G (p.Glu273Gly) c.815A>G (p.Glu272Gly) c.869A>G (p.Glu290Gly) c.980A>G (p.Glu327Gly) c.946-211027A>G (n.946-211027A>G) | |
6 | g.44230863A>T | CA138375576 | POLR1C,SLC29A1 | c.740A>T (p.Glu247Val) n.1138A>T c.427A>T n.929A>T c.977A>T (p.Glu326Val) c.866A>T (p.Glu289Val) c.818A>T (p.Glu273Val) c.815A>T (p.Glu272Val) c.869A>T (p.Glu290Val) c.980A>T (p.Glu327Val) c.946-211027A>T (n.946-211027A>T) | dbSNP |
6 | g.44230864G>A | CA450308659 | POLR1C,SLC29A1 | c.741G>A (p.Glu247=) n.1139G>A c.428G>A n.930G>A c.978G>A (p.Glu326=) c.867G>A (p.Glu289=) c.819G>A (p.Glu273=) c.816G>A (p.Glu272=) c.870G>A (p.Glu290=) c.981G>A (p.Glu327=) c.946-211026G>A (n.946-211026G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230864G>C | CA364307879 | POLR1C,SLC29A1 | c.741G>C (p.Glu247Asp) n.1139G>C c.428G>C n.930G>C c.978G>C (p.Glu326Asp) c.867G>C (p.Glu289Asp) c.819G>C (p.Glu273Asp) c.816G>C (p.Glu272Asp) c.870G>C (p.Glu290Asp) c.981G>C (p.Glu327Asp) c.946-211026G>C (n.946-211026G>C) | gnomAD v4 |
6 | g.44230864G= | CA1624909007 | POLR1C,SLC29A1 | c.741G= (p.Glu247=) n.1139G= c.428G= n.930G= c.978G= (p.Glu326=) c.867G= (p.Glu289=) c.819G= (p.Glu273=) c.816G= (p.Glu272=) c.870G= (p.Glu290=) c.981G= (p.Glu327=) c.946-211026G= (n.946-211026G=) | |
6 | g.44230864G>T | CA3831682 | POLR1C,SLC29A1 | c.741G>T (p.Glu247Asp) n.1139G>T c.428G>T n.930G>T c.978G>T (p.Glu326Asp) c.867G>T (p.Glu289Asp) c.819G>T (p.Glu273Asp) c.816G>T (p.Glu272Asp) c.870G>T (p.Glu290Asp) c.981G>T (p.Glu327Asp) c.946-211026G>T (n.946-211026G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230865A>C | CA364307887 | POLR1C,SLC29A1 | c.742A>C (p.Thr248Pro) n.1140A>C c.429A>C n.931A>C c.979A>C (p.Thr327Pro) c.868A>C (p.Thr290Pro) c.820A>C (p.Thr274Pro) c.817A>C (p.Thr273Pro) c.871A>C (p.Thr291Pro) c.982A>C (p.Thr328Pro) c.946-211025A>C (n.946-211025A>C) | |
6 | g.44230865A>G | CA364307896 | POLR1C,SLC29A1 | c.742A>G (p.Thr248Ala) n.1140A>G c.429A>G n.931A>G c.979A>G (p.Thr327Ala) c.868A>G (p.Thr290Ala) c.820A>G (p.Thr274Ala) c.817A>G (p.Thr273Ala) c.871A>G (p.Thr291Ala) c.982A>G (p.Thr328Ala) c.946-211025A>G (n.946-211025A>G) | |
6 | g.44230865A>T | CA364307900 | POLR1C,SLC29A1 | c.742A>T (p.Thr248Ser) n.1140A>T c.429A>T n.931A>T c.979A>T (p.Thr327Ser) c.868A>T (p.Thr290Ser) c.820A>T (p.Thr274Ser) c.817A>T (p.Thr273Ser) c.871A>T (p.Thr291Ser) c.982A>T (p.Thr328Ser) c.946-211025A>T (n.946-211025A>T) | |
6 | g.44230866C>A | CA3831683 | POLR1C,SLC29A1 | c.743C>A (p.Thr248Asn) n.1141C>A c.430C>A n.932C>A c.980C>A (p.Thr327Asn) c.869C>A (p.Thr290Asn) c.821C>A (p.Thr274Asn) c.818C>A (p.Thr273Asn) c.872C>A (p.Thr291Asn) c.983C>A (p.Thr328Asn) c.946-211024C>A (n.946-211024C>A) | dbSNP ExAC gnomAD v2 |
6 | g.44230866C= | CA1624909011 | POLR1C,SLC29A1 | c.743C= (p.Thr248=) n.1141C= c.430C= n.932C= c.980C= (p.Thr327=) c.869C= (p.Thr290=) c.821C= (p.Thr274=) c.818C= (p.Thr273=) c.872C= (p.Thr291=) c.983C= (p.Thr328=) c.946-211024C= (n.946-211024C=) | |
6 | g.44230866C>G | CA364307901 | POLR1C,SLC29A1 | c.743C>G (p.Thr248Ser) n.1141C>G c.430C>G n.932C>G c.980C>G (p.Thr327Ser) c.869C>G (p.Thr290Ser) c.821C>G (p.Thr274Ser) c.818C>G (p.Thr273Ser) c.872C>G (p.Thr291Ser) c.983C>G (p.Thr328Ser) c.946-211024C>G (n.946-211024C>G) | |
6 | g.44230866C>T | CA364307902 | POLR1C,SLC29A1 | c.743C>T (p.Thr248Ile) n.1141C>T c.430C>T n.932C>T c.980C>T (p.Thr327Ile) c.869C>T (p.Thr290Ile) c.821C>T (p.Thr274Ile) c.818C>T (p.Thr273Ile) c.872C>T (p.Thr291Ile) c.983C>T (p.Thr328Ile) c.946-211024C>T (n.946-211024C>T) | |
6 | g.44230867C>A | CA450308661 | POLR1C,SLC29A1 | c.744C>A (p.Thr248=) n.1142C>A c.431C>A n.933C>A c.981C>A (p.Thr327=) c.870C>A (p.Thr290=) c.822C>A (p.Thr274=) c.819C>A (p.Thr273=) c.873C>A (p.Thr291=) c.984C>A (p.Thr328=) c.946-211023C>A (n.946-211023C>A) | |
6 | g.44230867C= | CA1624909014 | POLR1C,SLC29A1 | c.744C= (p.Thr248=) n.1142C= c.431C= n.933C= c.981C= (p.Thr327=) c.870C= (p.Thr290=) c.822C= (p.Thr274=) c.819C= (p.Thr273=) c.873C= (p.Thr291=) c.984C= (p.Thr328=) c.946-211023C= (n.946-211023C=) | |
6 | g.44230867C>G | CA450308662 | POLR1C,SLC29A1 | c.744C>G (p.Thr248=) n.1142C>G c.431C>G n.933C>G c.981C>G (p.Thr327=) c.870C>G (p.Thr290=) c.822C>G (p.Thr274=) c.819C>G (p.Thr273=) c.873C>G (p.Thr291=) c.984C>G (p.Thr328=) c.946-211023C>G (n.946-211023C>G) | |
6 | g.44230867C>T | CA138375585 | POLR1C,SLC29A1 | c.744C>T (p.Thr248=) n.1142C>T c.431C>T n.933C>T c.981C>T (p.Thr327=) c.870C>T (p.Thr290=) c.822C>T (p.Thr274=) c.819C>T (p.Thr273=) c.873C>T (p.Thr291=) c.984C>T (p.Thr328=) c.946-211023C>T (n.946-211023C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230868A>C | CA364307912 | POLR1C,SLC29A1 | c.745A>C (p.Lys249Gln) n.1143A>C c.432A>C n.934A>C c.982A>C (p.Lys328Gln) c.871A>C (p.Lys291Gln) c.823A>C (p.Lys275Gln) c.820A>C (p.Lys274Gln) c.874A>C (p.Lys292Gln) c.985A>C (p.Lys329Gln) c.946-211022A>C (n.946-211022A>C) | |
6 | g.44230868A>G | CA364307910 | POLR1C,SLC29A1 | c.745A>G (p.Lys249Glu) n.1143A>G c.432A>G n.934A>G c.982A>G (p.Lys328Glu) c.871A>G (p.Lys291Glu) c.823A>G (p.Lys275Glu) c.820A>G (p.Lys274Glu) c.874A>G (p.Lys292Glu) c.985A>G (p.Lys329Glu) c.946-211022A>G (n.946-211022A>G) | |
6 | g.44230868A>T | CA364307907 | POLR1C,SLC29A1 | c.745A>T (p.Lys249Ter) n.1143A>T c.432A>T n.934A>T c.982A>T (p.Lys328Ter) c.871A>T (p.Lys291Ter) c.823A>T (p.Lys275Ter) c.820A>T (p.Lys274Ter) c.874A>T (p.Lys292Ter) c.985A>T (p.Lys329Ter) c.946-211022A>T (n.946-211022A>T) | |
6 | g.44230869A>C | CA364307916 | POLR1C,SLC29A1 | c.746A>C (p.Lys249Thr) n.1144A>C c.433A>C n.935A>C c.983A>C (p.Lys328Thr) c.872A>C (p.Lys291Thr) c.824A>C (p.Lys275Thr) c.821A>C (p.Lys274Thr) c.875A>C (p.Lys292Thr) c.986A>C (p.Lys329Thr) c.946-211021A>C (n.946-211021A>C) | |
6 | g.44230869A>G | CA364307927 | POLR1C,SLC29A1 | c.746A>G (p.Lys249Arg) n.1144A>G c.433A>G n.935A>G c.983A>G (p.Lys328Arg) c.872A>G (p.Lys291Arg) c.824A>G (p.Lys275Arg) c.821A>G (p.Lys274Arg) c.875A>G (p.Lys292Arg) c.986A>G (p.Lys329Arg) c.946-211021A>G (n.946-211021A>G) | |
6 | g.44230869A>T | CA364307929 | POLR1C,SLC29A1 | c.746A>T (p.Lys249Met) n.1144A>T c.433A>T n.935A>T c.983A>T (p.Lys328Met) c.872A>T (p.Lys291Met) c.824A>T (p.Lys275Met) c.821A>T (p.Lys274Met) c.875A>T (p.Lys292Met) c.986A>T (p.Lys329Met) c.946-211021A>T (n.946-211021A>T) | |
6 | g.44230870G>A | CA450308664 | POLR1C,SLC29A1 | c.747G>A (p.Lys249=) n.1145G>A c.434G>A n.936G>A c.984G>A (p.Lys328=) c.873G>A (p.Lys291=) c.825G>A (p.Lys275=) c.822G>A (p.Lys274=) c.876G>A (p.Lys292=) c.987G>A (p.Lys329=) c.946-211020G>A (n.946-211020G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230870G>C | CA364307936 | POLR1C,SLC29A1 | c.747G>C (p.Lys249Asn) n.1145G>C c.434G>C n.936G>C c.984G>C (p.Lys328Asn) c.873G>C (p.Lys291Asn) c.825G>C (p.Lys275Asn) c.822G>C (p.Lys274Asn) c.876G>C (p.Lys292Asn) c.987G>C (p.Lys329Asn) c.946-211020G>C (n.946-211020G>C) | |
6 | g.44230870G= | CA1624909017 | POLR1C,SLC29A1 | c.747G= (p.Lys249=) n.1145G= c.434G= n.936G= c.984G= (p.Lys328=) c.873G= (p.Lys291=) c.825G= (p.Lys275=) c.822G= (p.Lys274=) c.876G= (p.Lys292=) c.987G= (p.Lys329=) c.946-211020G= (n.946-211020G=) | |
6 | g.44230870G>T | CA364307938 | POLR1C,SLC29A1 | c.747G>T (p.Lys249Asn) n.1145G>T c.434G>T n.936G>T c.984G>T (p.Lys328Asn) c.873G>T (p.Lys291Asn) c.825G>T (p.Lys275Asn) c.822G>T (p.Lys274Asn) c.876G>T (p.Lys292Asn) c.987G>T (p.Lys329Asn) c.946-211020G>T (n.946-211020G>T) | |
6 | g.44230871T>A | CA364307942 | POLR1C,SLC29A1 | c.748T>A (p.Leu250Met) n.1146T>A c.435T>A n.937T>A c.985T>A (p.Leu329Met) c.874T>A (p.Leu292Met) c.826T>A (p.Leu276Met) c.823T>A (p.Leu275Met) c.877T>A (p.Leu293Met) c.988T>A (p.Leu330Met) c.946-211019T>A (n.946-211019T>A) | |
6 | g.44230871T>C | CA450308665 | POLR1C,SLC29A1 | c.748T>C (p.Leu250=) n.1146T>C c.435T>C n.937T>C c.985T>C (p.Leu329=) c.874T>C (p.Leu292=) c.826T>C (p.Leu276=) c.823T>C (p.Leu275=) c.877T>C (p.Leu293=) c.988T>C (p.Leu330=) c.946-211019T>C (n.946-211019T>C) | |
6 | g.44230871T>G | CA364307943 | POLR1C,SLC29A1 | c.748T>G (p.Leu250Val) n.1146T>G c.435T>G n.937T>G c.985T>G (p.Leu329Val) c.874T>G (p.Leu292Val) c.826T>G (p.Leu276Val) c.823T>G (p.Leu275Val) c.877T>G (p.Leu293Val) c.988T>G (p.Leu330Val) c.946-211019T>G (n.946-211019T>G) | |
6 | g.44230872T>A | CA364307944 | POLR1C,SLC29A1 | c.749T>A (p.Leu250Ter) n.1147T>A c.436T>A n.938T>A c.986T>A (p.Leu329Ter) c.875T>A (p.Leu292Ter) c.827T>A (p.Leu276Ter) c.824T>A (p.Leu275Ter) c.878T>A (p.Leu293Ter) c.989T>A (p.Leu330Ter) c.946-211018T>A (n.946-211018T>A) | |
6 | g.44230872T>C | CA364307945 | POLR1C,SLC29A1 | c.749T>C (p.Leu250Ser) n.1147T>C c.436T>C n.938T>C c.986T>C (p.Leu329Ser) c.875T>C (p.Leu292Ser) c.827T>C (p.Leu276Ser) c.824T>C (p.Leu275Ser) c.878T>C (p.Leu293Ser) c.989T>C (p.Leu330Ser) c.946-211018T>C (n.946-211018T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230872T>G | CA364307946 | POLR1C,SLC29A1 | c.749T>G (p.Leu250Trp) n.1147T>G c.436T>G n.938T>G c.986T>G (p.Leu329Trp) c.875T>G (p.Leu292Trp) c.827T>G (p.Leu276Trp) c.824T>G (p.Leu275Trp) c.878T>G (p.Leu293Trp) c.989T>G (p.Leu330Trp) c.946-211018T>G (n.946-211018T>G) | |
6 | g.44230872T= | CA1624909021 | POLR1C,SLC29A1 | c.749T= (p.Leu250=) n.1147T= c.436T= n.938T= c.986T= (p.Leu329=) c.875T= (p.Leu292=) c.827T= (p.Leu276=) c.824T= (p.Leu275=) c.878T= (p.Leu293=) c.989T= (p.Leu330=) c.946-211018T= (n.946-211018T=) | |
6 | g.44230873G>A | CA450308668 | POLR1C,SLC29A1 | c.750G>A (p.Leu250=) n.1148G>A c.437G>A n.939G>A c.987G>A (p.Leu329=) c.876G>A (p.Leu292=) c.828G>A (p.Leu276=) c.825G>A (p.Leu275=) c.879G>A (p.Leu293=) c.990G>A (p.Leu330=) c.946-211017G>A (n.946-211017G>A) | |
6 | g.44230873G>C | CA364307948 | POLR1C,SLC29A1 | c.750G>C (p.Leu250Phe) n.1148G>C c.437G>C n.939G>C c.987G>C (p.Leu329Phe) c.876G>C (p.Leu292Phe) c.828G>C (p.Leu276Phe) c.825G>C (p.Leu275Phe) c.879G>C (p.Leu293Phe) c.990G>C (p.Leu330Phe) c.946-211017G>C (n.946-211017G>C) | |
6 | g.44230873G>T | CA364307949 | POLR1C,SLC29A1 | c.750G>T (p.Leu250Phe) n.1148G>T c.437G>T n.939G>T c.987G>T (p.Leu329Phe) c.876G>T (p.Leu292Phe) c.828G>T (p.Leu276Phe) c.825G>T (p.Leu275Phe) c.879G>T (p.Leu293Phe) c.990G>T (p.Leu330Phe) c.946-211017G>T (n.946-211017G>T) | |
6 | g.44230874G>A | CA364307957 | POLR1C,SLC29A1 | c.751G>A (p.Asp251Asn) n.1149G>A c.438G>A n.940G>A c.988G>A (p.Asp330Asn) c.877G>A (p.Asp293Asn) c.829G>A (p.Asp277Asn) c.826G>A (p.Asp276Asn) c.880G>A (p.Asp294Asn) c.991G>A (p.Asp331Asn) c.946-211016G>A (n.946-211016G>A) | |
6 | g.44230874G>C | CA364307967 | POLR1C,SLC29A1 | c.751G>C (p.Asp251His) n.1149G>C c.438G>C n.940G>C c.988G>C (p.Asp330His) c.877G>C (p.Asp293His) c.829G>C (p.Asp277His) c.826G>C (p.Asp276His) c.880G>C (p.Asp294His) c.991G>C (p.Asp331His) c.946-211016G>C (n.946-211016G>C) | |
6 | g.44230874G>T | CA364307960 | POLR1C,SLC29A1 | c.751G>T (p.Asp251Tyr) n.1149G>T c.438G>T n.940G>T c.988G>T (p.Asp330Tyr) c.877G>T (p.Asp293Tyr) c.829G>T (p.Asp277Tyr) c.826G>T (p.Asp276Tyr) c.880G>T (p.Asp294Tyr) c.991G>T (p.Asp331Tyr) c.946-211016G>T (n.946-211016G>T) | |
6 | g.44230875A>C | CA364307969 | POLR1C,SLC29A1 | c.752A>C (p.Asp251Ala) n.1150A>C c.439A>C n.941A>C c.989A>C (p.Asp330Ala) c.878A>C (p.Asp293Ala) c.830A>C (p.Asp277Ala) c.827A>C (p.Asp276Ala) c.881A>C (p.Asp294Ala) c.992A>C (p.Asp331Ala) c.946-211015A>C (n.946-211015A>C) | |
6 | g.44230875A>G | CA364307971 | POLR1C,SLC29A1 | c.752A>G (p.Asp251Gly) n.1150A>G c.439A>G n.941A>G c.989A>G (p.Asp330Gly) c.878A>G (p.Asp293Gly) c.830A>G (p.Asp277Gly) c.827A>G (p.Asp276Gly) c.881A>G (p.Asp294Gly) c.992A>G (p.Asp331Gly) c.946-211015A>G (n.946-211015A>G) | |
6 | g.44230875A>T | CA364307974 | POLR1C,SLC29A1 | c.752A>T (p.Asp251Val) n.1150A>T c.439A>T n.941A>T c.989A>T (p.Asp330Val) c.878A>T (p.Asp293Val) c.830A>T (p.Asp277Val) c.827A>T (p.Asp276Val) c.881A>T (p.Asp294Val) c.992A>T (p.Asp331Val) c.946-211015A>T (n.946-211015A>T) | |
6 | g.44230876C>A | CA364307978 | POLR1C,SLC29A1 | c.753C>A (p.Asp251Glu) n.1151C>A c.440C>A n.942C>A c.990C>A (p.Asp330Glu) c.879C>A (p.Asp293Glu) c.831C>A (p.Asp277Glu) c.828C>A (p.Asp276Glu) c.882C>A (p.Asp294Glu) c.993C>A (p.Asp331Glu) c.946-211014C>A (n.946-211014C>A) | |
6 | g.44230876C= | CA1624909024 | POLR1C,SLC29A1 | c.753C= (p.Asp251=) n.1151C= c.440C= n.942C= c.990C= (p.Asp330=) c.879C= (p.Asp293=) c.831C= (p.Asp277=) c.828C= (p.Asp276=) c.882C= (p.Asp294=) c.993C= (p.Asp331=) c.946-211014C= (n.946-211014C=) | |
6 | g.44230876C>G | CA364307979 | POLR1C,SLC29A1 | c.753C>G (p.Asp251Glu) n.1151C>G c.440C>G n.942C>G c.990C>G (p.Asp330Glu) c.879C>G (p.Asp293Glu) c.831C>G (p.Asp277Glu) c.828C>G (p.Asp276Glu) c.882C>G (p.Asp294Glu) c.993C>G (p.Asp331Glu) c.946-211014C>G (n.946-211014C>G) | |
6 | g.44230876C>T | CA3831684 | POLR1C,SLC29A1 | c.753C>T (p.Asp251=) n.1151C>T c.440C>T n.942C>T c.990C>T (p.Asp330=) c.879C>T (p.Asp293=) c.831C>T (p.Asp277=) c.828C>T (p.Asp276=) c.882C>T (p.Asp294=) c.993C>T (p.Asp331=) c.946-211014C>T (n.946-211014C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230877C>A | CA364307988 | POLR1C,SLC29A1 | c.754C>A (p.Leu252Ile) n.1152C>A c.441C>A n.943C>A c.991C>A (p.Leu331Ile) c.880C>A (p.Leu294Ile) c.832C>A (p.Leu278Ile) c.829C>A (p.Leu277Ile) c.883C>A (p.Leu295Ile) c.994C>A (p.Leu332Ile) c.946-211013C>A (n.946-211013C>A) | |
6 | g.44230877C>G | CA364307993 | POLR1C,SLC29A1 | c.754C>G (p.Leu252Val) n.1152C>G c.441C>G n.943C>G c.991C>G (p.Leu331Val) c.880C>G (p.Leu294Val) c.832C>G (p.Leu278Val) c.829C>G (p.Leu277Val) c.883C>G (p.Leu295Val) c.994C>G (p.Leu332Val) c.946-211013C>G (n.946-211013C>G) | gnomAD v4 |
6 | g.44230877C>T | CA364307996 | POLR1C,SLC29A1 | c.754C>T (p.Leu252Phe) n.1152C>T c.441C>T n.943C>T c.991C>T (p.Leu331Phe) c.880C>T (p.Leu294Phe) c.832C>T (p.Leu278Phe) c.829C>T (p.Leu277Phe) c.883C>T (p.Leu295Phe) c.994C>T (p.Leu332Phe) c.946-211013C>T (n.946-211013C>T) | COSMIC |
6 | g.44230878T>A | CA364308002 | POLR1C,SLC29A1 | c.755T>A (p.Leu252His) n.1153T>A c.442T>A n.944T>A c.992T>A (p.Leu331His) c.881T>A (p.Leu294His) c.833T>A (p.Leu278His) c.830T>A (p.Leu277His) c.884T>A (p.Leu295His) c.995T>A (p.Leu332His) c.946-211012T>A (n.946-211012T>A) | |
6 | g.44230878T>C | CA364308005 | POLR1C,SLC29A1 | c.755T>C (p.Leu252Pro) n.1153T>C c.442T>C n.944T>C c.992T>C (p.Leu331Pro) c.881T>C (p.Leu294Pro) c.833T>C (p.Leu278Pro) c.830T>C (p.Leu277Pro) c.884T>C (p.Leu295Pro) c.995T>C (p.Leu332Pro) c.946-211012T>C (n.946-211012T>C) | |
6 | g.44230878T>G | CA364308009 | POLR1C,SLC29A1 | c.755T>G (p.Leu252Arg) n.1153T>G c.442T>G n.944T>G c.992T>G (p.Leu331Arg) c.881T>G (p.Leu294Arg) c.833T>G (p.Leu278Arg) c.830T>G (p.Leu277Arg) c.884T>G (p.Leu295Arg) c.995T>G (p.Leu332Arg) c.946-211012T>G (n.946-211012T>G) | |
6 | g.44230879C>A | CA450308673 | POLR1C,SLC29A1 | c.756C>A (p.Leu252=) n.1154C>A c.443C>A n.945C>A c.993C>A (p.Leu331=) c.882C>A (p.Leu294=) c.834C>A (p.Leu278=) c.831C>A (p.Leu277=) c.885C>A (p.Leu295=) c.996C>A (p.Leu332=) c.946-211011C>A (n.946-211011C>A) | |
6 | g.44230879C= | CA1624909029 | POLR1C,SLC29A1 | c.756C= (p.Leu252=) n.1154C= c.443C= n.945C= c.993C= (p.Leu331=) c.882C= (p.Leu294=) c.834C= (p.Leu278=) c.831C= (p.Leu277=) c.885C= (p.Leu295=) c.996C= (p.Leu332=) c.946-211011C= (n.946-211011C=) | |
6 | g.44230879C>G | CA450308674 | POLR1C,SLC29A1 | c.756C>G (p.Leu252=) n.1154C>G c.443C>G n.945C>G c.993C>G (p.Leu331=) c.882C>G (p.Leu294=) c.834C>G (p.Leu278=) c.831C>G (p.Leu277=) c.885C>G (p.Leu295=) c.996C>G (p.Leu332=) c.946-211011C>G (n.946-211011C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44230879C>T | CA3831685 | POLR1C,SLC29A1 | c.756C>T (p.Leu252=) n.1154C>T c.443C>T n.945C>T c.993C>T (p.Leu331=) c.882C>T (p.Leu294=) c.834C>T (p.Leu278=) c.831C>T (p.Leu277=) c.885C>T (p.Leu295=) c.996C>T (p.Leu332=) c.946-211011C>T (n.946-211011C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.44230880A= | CA1624909037 | POLR1C,SLC29A1 | c.757A= (p.Ile253=) n.1155A= c.444A= n.946A= c.994A= (p.Ile332=) c.883A= (p.Ile295=) c.835A= (p.Ile279=) c.832A= (p.Ile278=) c.886A= (p.Ile296=) c.997A= (p.Ile333=) c.946-211010A= (n.946-211010A=) | |
6 | g.44230880A>C | CA364308020 | POLR1C,SLC29A1 | c.757A>C (p.Ile253Leu) n.1155A>C c.444A>C n.946A>C c.994A>C (p.Ile332Leu) c.883A>C (p.Ile295Leu) c.835A>C (p.Ile279Leu) c.832A>C (p.Ile278Leu) c.886A>C (p.Ile296Leu) c.997A>C (p.Ile333Leu) c.946-211010A>C (n.946-211010A>C) | gnomAD v4 |
6 | g.44230880A>G | CA364308018 | POLR1C,SLC29A1 | c.757A>G (p.Ile253Val) n.1155A>G c.444A>G n.946A>G c.994A>G (p.Ile332Val) c.883A>G (p.Ile295Val) c.835A>G (p.Ile279Val) c.832A>G (p.Ile278Val) c.886A>G (p.Ile296Val) c.997A>G (p.Ile333Val) c.946-211010A>G (n.946-211010A>G) | dbSNP gnomAD v4 |
6 | g.44230880A>T | CA364308014 | POLR1C,SLC29A1 | c.757A>T (p.Ile253Phe) n.1155A>T c.444A>T n.946A>T c.994A>T (p.Ile332Phe) c.883A>T (p.Ile295Phe) c.835A>T (p.Ile279Phe) c.832A>T (p.Ile278Phe) c.886A>T (p.Ile296Phe) c.997A>T (p.Ile333Phe) c.946-211010A>T (n.946-211010A>T) | |
6 | g.44230881T>A | CA364308022 | POLR1C,SLC29A1 | c.758T>A (p.Ile253Asn) n.1156T>A c.445T>A n.947T>A c.995T>A (p.Ile332Asn) c.884T>A (p.Ile295Asn) c.836T>A (p.Ile279Asn) c.833T>A (p.Ile278Asn) c.887T>A (p.Ile296Asn) c.998T>A (p.Ile333Asn) c.946-211009T>A (n.946-211009T>A) | |
6 | g.44230881T>C | CA364308023 | POLR1C,SLC29A1 | c.758T>C (p.Ile253Thr) n.1156T>C c.445T>C n.947T>C c.995T>C (p.Ile332Thr) c.884T>C (p.Ile295Thr) c.836T>C (p.Ile279Thr) c.833T>C (p.Ile278Thr) c.887T>C (p.Ile296Thr) c.998T>C (p.Ile333Thr) c.946-211009T>C (n.946-211009T>C) | gnomAD v4 |
6 | g.44230881T>G | CA364308024 | POLR1C,SLC29A1 | c.758T>G (p.Ile253Ser) n.1156T>G c.445T>G n.947T>G c.995T>G (p.Ile332Ser) c.884T>G (p.Ile295Ser) c.836T>G (p.Ile279Ser) c.833T>G (p.Ile278Ser) c.887T>G (p.Ile296Ser) c.998T>G (p.Ile333Ser) c.946-211009T>G (n.946-211009T>G) | |
6 | g.44230882T>A | CA450308678 | POLR1C,SLC29A1 | c.759T>A (p.Ile253=) n.1157T>A c.446T>A n.948T>A c.996T>A (p.Ile332=) c.885T>A (p.Ile295=) c.837T>A (p.Ile279=) c.834T>A (p.Ile278=) c.888T>A (p.Ile296=) c.999T>A (p.Ile333=) c.946-211008T>A (n.946-211008T>A) | |
6 | g.44230882T>C | CA3831686 | POLR1C,SLC29A1 | c.759T>C (p.Ile253=) n.1157T>C c.446T>C n.948T>C c.996T>C (p.Ile332=) c.885T>C (p.Ile295=) c.837T>C (p.Ile279=) c.834T>C (p.Ile278=) c.888T>C (p.Ile296=) c.999T>C (p.Ile333=) c.946-211008T>C (n.946-211008T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44230882T>G | CA364308031 | POLR1C,SLC29A1 | c.759T>G (p.Ile253Met) n.1157T>G c.446T>G n.948T>G c.996T>G (p.Ile332Met) c.885T>G (p.Ile295Met) c.837T>G (p.Ile279Met) c.834T>G (p.Ile278Met) c.888T>G (p.Ile296Met) c.999T>G (p.Ile333Met) c.946-211008T>G (n.946-211008T>G) | |
6 | g.44230882T= | CA1624909040 | POLR1C,SLC29A1 | c.759T= (p.Ile253=) n.1157T= c.446T= n.948T= c.996T= (p.Ile332=) c.885T= (p.Ile295=) c.837T= (p.Ile279=) c.834T= (p.Ile278=) c.888T= (p.Ile296=) c.999T= (p.Ile333=) c.946-211008T= (n.946-211008T=) | |
6 | g.44230883A>C | CA364308038 | POLR1C,SLC29A1 | c.760A>C (p.Ser254Arg) n.1158A>C c.447A>C n.949A>C c.997A>C (p.Ser333Arg) c.886A>C (p.Ser296Arg) c.838A>C (p.Ser280Arg) c.835A>C (p.Ser279Arg) c.889A>C (p.Ser297Arg) c.1000A>C (p.Ser334Arg) c.946-211007A>C (n.946-211007A>C) | |
6 | g.44230883A>G | CA364308042 | POLR1C,SLC29A1 | c.760A>G (p.Ser254Gly) n.1158A>G c.447A>G n.949A>G c.997A>G (p.Ser333Gly) c.886A>G (p.Ser296Gly) c.838A>G (p.Ser280Gly) c.835A>G (p.Ser279Gly) c.889A>G (p.Ser297Gly) c.1000A>G (p.Ser334Gly) c.946-211007A>G (n.946-211007A>G) | |
6 | g.44230883A>T | CA364308046 | POLR1C,SLC29A1 | c.760A>T (p.Ser254Cys) n.1158A>T c.447A>T n.949A>T c.997A>T (p.Ser333Cys) c.886A>T (p.Ser296Cys) c.838A>T (p.Ser280Cys) c.835A>T (p.Ser279Cys) c.889A>T (p.Ser297Cys) c.1000A>T (p.Ser334Cys) c.946-211007A>T (n.946-211007A>T) | |
6 | g.44230884G>A | CA364308048 | POLR1C,SLC29A1 | c.761G>A (p.Ser254Asn) n.1159G>A c.448G>A n.950G>A c.998G>A (p.Ser333Asn) c.887G>A (p.Ser296Asn) c.839G>A (p.Ser280Asn) c.836G>A (p.Ser279Asn) c.890G>A (p.Ser297Asn) c.1001G>A (p.Ser334Asn) c.946-211006G>A (n.946-211006G>A) | |
6 | g.44230884G>C | CA364308049 | POLR1C,SLC29A1 | c.761G>C (p.Ser254Thr) n.1159G>C c.448G>C n.950G>C c.998G>C (p.Ser333Thr) c.887G>C (p.Ser296Thr) c.839G>C (p.Ser280Thr) c.836G>C (p.Ser279Thr) c.890G>C (p.Ser297Thr) c.1001G>C (p.Ser334Thr) c.946-211006G>C (n.946-211006G>C) | |
6 | g.44230884G>T | CA364308051 | POLR1C,SLC29A1 | c.761G>T (p.Ser254Ile) n.1159G>T c.448G>T n.950G>T c.998G>T (p.Ser333Ile) c.887G>T (p.Ser296Ile) c.839G>T (p.Ser280Ile) c.836G>T (p.Ser279Ile) c.890G>T (p.Ser297Ile) c.1001G>T (p.Ser334Ile) c.946-211006G>T (n.946-211006G>T) | |
6 | g.44230885C>A | CA364308057 | POLR1C,SLC29A1 | c.762C>A (p.Ser254Arg) n.1160C>A c.449C>A n.951C>A c.999C>A (p.Ser333Arg) c.888C>A (p.Ser296Arg) c.840C>A (p.Ser280Arg) c.837C>A (p.Ser279Arg) c.891C>A (p.Ser297Arg) c.1002C>A (p.Ser334Arg) c.946-211005C>A (n.946-211005C>A) | |
6 | g.44230885C>G | CA364308059 | POLR1C,SLC29A1 | c.762C>G (p.Ser254Arg) n.1160C>G c.449C>G n.951C>G c.999C>G (p.Ser333Arg) c.888C>G (p.Ser296Arg) c.840C>G (p.Ser280Arg) c.837C>G (p.Ser279Arg) c.891C>G (p.Ser297Arg) c.1002C>G (p.Ser334Arg) c.946-211005C>G (n.946-211005C>G) | |
6 | g.44230885C>T | CA450308681 | POLR1C,SLC29A1 | c.762C>T (p.Ser254=) n.1160C>T c.449C>T n.951C>T c.999C>T (p.Ser333=) c.888C>T (p.Ser296=) c.840C>T (p.Ser280=) c.837C>T (p.Ser279=) c.891C>T (p.Ser297=) c.1002C>T (p.Ser334=) c.946-211005C>T (n.946-211005C>T) | |
6 | g.44230886A= | CA1624909045 | POLR1C,SLC29A1 | c.763A= (p.Lys255=) n.1161A= c.450A= n.952A= c.1000A= (p.Lys334=) c.889A= (p.Lys297=) c.841A= (p.Lys281=) c.838A= (p.Lys280=) c.892A= (p.Lys298=) c.1003A= (p.Lys335=) c.946-211004A= (n.946-211004A=) | |
6 | g.44230886A>C | CA364308070 | POLR1C,SLC29A1 | c.763A>C (p.Lys255Gln) n.1161A>C c.450A>C n.952A>C c.1000A>C (p.Lys334Gln) c.889A>C (p.Lys297Gln) c.841A>C (p.Lys281Gln) c.838A>C (p.Lys280Gln) c.892A>C (p.Lys298Gln) c.1003A>C (p.Lys335Gln) c.946-211004A>C (n.946-211004A>C) | |
6 | g.44230886A>G | CA3831687 | POLR1C,SLC29A1 | c.763A>G (p.Lys255Glu) n.1161A>G c.450A>G n.952A>G c.1000A>G (p.Lys334Glu) c.889A>G (p.Lys297Glu) c.841A>G (p.Lys281Glu) c.838A>G (p.Lys280Glu) c.892A>G (p.Lys298Glu) c.1003A>G (p.Lys335Glu) c.946-211004A>G (n.946-211004A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.44230886A>T | CA364308066 | POLR1C,SLC29A1 | c.763A>T (p.Lys255Ter) n.1161A>T c.450A>T n.952A>T c.1000A>T (p.Lys334Ter) c.889A>T (p.Lys297Ter) c.841A>T (p.Lys281Ter) c.838A>T (p.Lys280Ter) c.892A>T (p.Lys298Ter) c.1003A>T (p.Lys335Ter) c.946-211004A>T (n.946-211004A>T) | |
6 | g.44230887A>C | CA364308076 | POLR1C,SLC29A1 | c.764A>C (p.Lys255Thr) n.1162A>C c.451A>C n.953A>C c.1001A>C (p.Lys334Thr) c.890A>C (p.Lys297Thr) c.842A>C (p.Lys281Thr) c.839A>C (p.Lys280Thr) c.893A>C (p.Lys298Thr) c.1004A>C (p.Lys335Thr) c.946-211003A>C (n.946-211003A>C) | |
6 | g.44230887A>G | CA364308077 | POLR1C,SLC29A1 | c.764A>G (p.Lys255Arg) n.1162A>G c.451A>G n.953A>G c.1001A>G (p.Lys334Arg) c.890A>G (p.Lys297Arg) c.842A>G (p.Lys281Arg) c.839A>G (p.Lys280Arg) c.893A>G (p.Lys298Arg) c.1004A>G (p.Lys335Arg) c.946-211003A>G (n.946-211003A>G) | |
6 | g.44230887A>T | CA364308078 | POLR1C,SLC29A1 | c.764A>T (p.Lys255Ile) n.1162A>T c.451A>T n.953A>T c.1001A>T (p.Lys334Ile) c.890A>T (p.Lys297Ile) c.842A>T (p.Lys281Ile) c.839A>T (p.Lys280Ile) c.893A>T (p.Lys298Ile) c.1004A>T (p.Lys335Ile) c.946-211003A>T (n.946-211003A>T) | |
6 | g.44230888A>C | CA364308083 | POLR1C,SLC29A1 | c.765A>C (p.Lys255Asn) n.1163A>C c.452A>C n.954A>C c.1002A>C (p.Lys334Asn) c.891A>C (p.Lys297Asn) c.843A>C (p.Lys281Asn) c.840A>C (p.Lys280Asn) c.894A>C (p.Lys298Asn) c.1005A>C (p.Lys335Asn) c.946-211002A>C (n.946-211002A>C) | |
6 | g.44230888A>G | CA450308685 | POLR1C,SLC29A1 | c.765A>G (p.Lys255=) n.1163A>G c.452A>G n.954A>G c.1002A>G (p.Lys334=) c.891A>G (p.Lys297=) c.843A>G (p.Lys281=) c.840A>G (p.Lys280=) c.894A>G (p.Lys298=) c.1005A>G (p.Lys335=) c.946-211002A>G (n.946-211002A>G) | |
6 | g.44230888A>T | CA364308084 | POLR1C,SLC29A1 | c.765A>T (p.Lys255Asn) n.1163A>T c.452A>T n.954A>T c.1002A>T (p.Lys334Asn) c.891A>T (p.Lys297Asn) c.843A>T (p.Lys281Asn) c.840A>T (p.Lys280Asn) c.894A>T (p.Lys298Asn) c.1005A>T (p.Lys335Asn) c.946-211002A>T (n.946-211002A>T) | |
6 | g.44230889G>A | CA364308088 | POLR1C,SLC29A1 | c.766G>A (p.Gly256Arg) n.1164G>A c.453G>A n.955G>A c.1003G>A (p.Gly335Arg) c.892G>A (p.Gly298Arg) c.844G>A (p.Gly282Arg) c.841G>A (p.Gly281Arg) c.895G>A (p.Gly299Arg) c.1006G>A (p.Gly336Arg) c.946-211001G>A (n.946-211001G>A) | |
6 | g.44230889G>C | CA364308092 | POLR1C,SLC29A1 | c.766G>C (p.Gly256Arg) n.1164G>C c.453G>C n.955G>C c.1003G>C (p.Gly335Arg) c.892G>C (p.Gly298Arg) c.844G>C (p.Gly282Arg) c.841G>C (p.Gly281Arg) c.895G>C (p.Gly299Arg) c.1006G>C (p.Gly336Arg) c.946-211001G>C (n.946-211001G>C) | |
6 | g.44230889G>T | CA364308095 | POLR1C,SLC29A1 | c.766G>T (p.Gly256Ter) n.1164G>T c.453G>T n.955G>T c.1003G>T (p.Gly335Ter) c.892G>T (p.Gly298Ter) c.844G>T (p.Gly282Ter) c.841G>T (p.Gly281Ter) c.895G>T (p.Gly299Ter) c.1006G>T (p.Gly336Ter) c.946-211001G>T (n.946-211001G>T) | |
6 | g.44230890G>A | CA364308102 | POLR1C,SLC29A1 | c.766+1G>A (n.766+1G>A) n.1164+1G>A c.453+1G>A n.955+1G>A c.1003+1G>A (n.1003+1G>A) c.892+1G>A (n.892+1G>A) c.844+1G>A (n.844+1G>A) c.841+1G>A (n.841+1G>A) c.895+1G>A (n.895+1G>A) c.1006+1G>A (n.1006+1G>A) c.946-211000G>A (n.946-211000G>A) | |
6 | g.44230890G>C | CA364308107 | POLR1C,SLC29A1 | c.766+1G>C (n.766+1G>C) n.1164+1G>C c.453+1G>C n.955+1G>C c.1003+1G>C (n.1003+1G>C) c.892+1G>C (n.892+1G>C) c.844+1G>C (n.844+1G>C) c.841+1G>C (n.841+1G>C) c.895+1G>C (n.895+1G>C) c.1006+1G>C (n.1006+1G>C) c.946-211000G>C (n.946-211000G>C) | |
6 | g.44230890G>T | CA364308110 | POLR1C,SLC29A1 | c.766+1G>T (n.766+1G>T) n.1164+1G>T c.453+1G>T n.955+1G>T c.1003+1G>T (n.1003+1G>T) c.892+1G>T (n.892+1G>T) c.844+1G>T (n.844+1G>T) c.841+1G>T (n.841+1G>T) c.895+1G>T (n.895+1G>T) c.1006+1G>T (n.1006+1G>T) c.946-211000G>T (n.946-211000G>T) | |
6 | g.44230891T>A | CA138375611 | POLR1C,SLC29A1 | c.766+2T>A (n.766+2T>A) n.1164+2T>A c.453+2T>A n.955+2T>A c.1003+2T>A (n.1003+2T>A) c.892+2T>A (n.892+2T>A) c.844+2T>A (n.844+2T>A) c.841+2T>A (n.841+2T>A) c.895+2T>A (n.895+2T>A) c.1006+2T>A (n.1006+2T>A) c.946-210999T>A (n.946-210999T>A) | dbSNP |
6 | g.44230891T>C | CA364308118 | POLR1C,SLC29A1 | c.766+2T>C (n.766+2T>C) n.1164+2T>C c.453+2T>C n.955+2T>C c.1003+2T>C (n.1003+2T>C) c.892+2T>C (n.892+2T>C) c.844+2T>C (n.844+2T>C) c.841+2T>C (n.841+2T>C) c.895+2T>C (n.895+2T>C) c.1006+2T>C (n.1006+2T>C) c.946-210999T>C (n.946-210999T>C) | |
6 | g.44230891T>G | CA364308117 | POLR1C,SLC29A1 | c.766+2T>G (n.766+2T>G) n.1164+2T>G c.453+2T>G n.955+2T>G c.1003+2T>G (n.1003+2T>G) c.892+2T>G (n.892+2T>G) c.844+2T>G (n.844+2T>G) c.841+2T>G (n.841+2T>G) c.895+2T>G (n.895+2T>G) c.1006+2T>G (n.1006+2T>G) c.946-210999T>G (n.946-210999T>G) | |
6 | g.44230891T= | CA1624909049 | POLR1C,SLC29A1 | c.766+2T= (n.766+2T=) n.1164+2T= c.453+2T= n.955+2T= c.1003+2T= (n.1003+2T=) c.892+2T= (n.892+2T=) c.844+2T= (n.844+2T=) c.841+2T= (n.841+2T=) c.895+2T= (n.895+2T=) c.1006+2T= (n.1006+2T=) c.946-210999T= (n.946-210999T=) | |
6 | g.44230892C= | CA1624909052 | POLR1C,SLC29A1 | c.766+3C= (n.766+3C=) n.1164+3C= c.453+3C= n.955+3C= c.1003+3C= (n.1003+3C=) c.892+3C= (n.892+3C=) c.844+3C= (n.844+3C=) c.841+3C= (n.841+3C=) c.895+3C= (n.895+3C=) c.1006+3C= (n.1006+3C=) c.946-210998C= (n.946-210998C=) | |
6 | g.44230892C>G | CA138375624 | POLR1C,SLC29A1 | c.766+3C>G (n.766+3C>G) n.1164+3C>G c.453+3C>G n.955+3C>G c.1003+3C>G (n.1003+3C>G) c.892+3C>G (n.892+3C>G) c.844+3C>G (n.844+3C>G) c.841+3C>G (n.841+3C>G) c.895+3C>G (n.895+3C>G) c.1006+3C>G (n.1006+3C>G) c.946-210998C>G (n.946-210998C>G) | dbSNP |
6 | g.44230892C>T | CA2578632073 | POLR1C,SLC29A1 | c.766+3C>T (n.766+3C>T) n.1164+3C>T c.453+3C>T n.955+3C>T c.1003+3C>T (n.1003+3C>T) c.892+3C>T (n.892+3C>T) c.844+3C>T (n.844+3C>T) c.841+3C>T (n.841+3C>T) c.895+3C>T (n.895+3C>T) c.1006+3C>T (n.1006+3C>T) c.946-210998C>T (n.946-210998C>T) | |
6 | g.44230893C>A | CA2678935739 | POLR1C,SLC29A1 | c.766+4C>A (n.766+4C>A) n.1164+4C>A c.453+4C>A n.955+4C>A c.1003+4C>A (n.1003+4C>A) c.892+4C>A (n.892+4C>A) c.844+4C>A (n.844+4C>A) c.841+4C>A (n.841+4C>A) c.895+4C>A (n.895+4C>A) c.1006+4C>A (n.1006+4C>A) c.946-210997C>A (n.946-210997C>A) | gnomAD v4 |
6 | g.44230893C= | CA1624909056 | POLR1C,SLC29A1 | c.766+4C= (n.766+4C=) n.1164+4C= c.453+4C= n.955+4C= c.1003+4C= (n.1003+4C=) c.892+4C= (n.892+4C=) c.844+4C= (n.844+4C=) c.841+4C= (n.841+4C=) c.895+4C= (n.895+4C=) c.1006+4C= (n.1006+4C=) c.946-210997C= (n.946-210997C=) | |
6 | g.44230893C>G | CA138375630 | POLR1C,SLC29A1 | c.766+4C>G (n.766+4C>G) n.1164+4C>G c.453+4C>G n.955+4C>G c.1003+4C>G (n.1003+4C>G) c.892+4C>G (n.892+4C>G) c.844+4C>G (n.844+4C>G) c.841+4C>G (n.841+4C>G) c.895+4C>G (n.895+4C>G) c.1006+4C>G (n.1006+4C>G) c.946-210997C>G (n.946-210997C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44230893C>T | CA3831688 | POLR1C,SLC29A1 | c.766+4C>T (n.766+4C>T) n.1164+4C>T c.453+4C>T n.955+4C>T c.1003+4C>T (n.1003+4C>T) c.892+4C>T (n.892+4C>T) c.844+4C>T (n.844+4C>T) c.841+4C>T (n.841+4C>T) c.895+4C>T (n.895+4C>T) c.1006+4C>T (n.1006+4C>T) c.946-210997C>T (n.946-210997C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |