Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1804405_1804411del | CA2642666553 | GNB1 | c.391+10_391+16del (n.391+10_391+16del) c.130+10_130+16del (n.130+10_130+16del) c.430+10_430+16del (n.430+10_430+16del) c.298+10_298+16del (n.298+10_298+16del) n.1034+10_1034+16del | gnomAD v4 |
1 | g.1804405A= | CA1143673987 | GNB1 | c.391+14T= (n.391+14T=) c.130+14T= (n.130+14T=) c.430+14T= (n.430+14T=) c.298+14T= (n.298+14T=) n.1034+14T= | |
1 | g.1804405A>G | CA532039 | GNB1 | c.391+14T>C (n.391+14T>C) c.130+14T>C (n.130+14T>C) c.430+14T>C (n.430+14T>C) c.298+14T>C (n.298+14T>C) n.1034+14T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804406C>G | CA2574174558 | GNB1 | c.391+13G>C (n.391+13G>C) c.130+13G>C (n.130+13G>C) c.430+13G>C (n.430+13G>C) c.298+13G>C (n.298+13G>C) n.1034+13G>C | |
1 | g.1804407A>G | CA2574174559 | GNB1 | c.391+12T>C (n.391+12T>C) c.130+12T>C (n.130+12T>C) c.430+12T>C (n.430+12T>C) c.298+12T>C (n.298+12T>C) n.1034+12T>C | |
1 | g.1804408A= | CA1149323296 | GNB1 | c.391+11T= (n.391+11T=) c.130+11T= (n.130+11T=) c.430+11T= (n.430+11T=) c.298+11T= (n.298+11T=) n.1034+11T= | |
1 | g.1804408A>T | CA521012414 | GNB1 | c.391+11T>A (n.391+11T>A) c.130+11T>A (n.130+11T>A) c.430+11T>A (n.430+11T>A) c.298+11T>A (n.298+11T>A) n.1034+11T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1804409G>A | CA2642666556 | GNB1 | c.391+10C>T (n.391+10C>T) c.130+10C>T (n.130+10C>T) c.430+10C>T (n.430+10C>T) c.298+10C>T (n.298+10C>T) n.1034+10C>T | gnomAD v4 |
1 | g.1804409G>C | CA2574174560 | GNB1 | c.391+10C>G (n.391+10C>G) c.130+10C>G (n.130+10C>G) c.430+10C>G (n.430+10C>G) c.298+10C>G (n.298+10C>G) n.1034+10C>G | |
1 | g.1804409G>T | CA2739664281 | GNB1 | c.391+10C>A (n.391+10C>A) c.130+10C>A (n.130+10C>A) c.430+10C>A (n.430+10C>A) c.298+10C>A (n.298+10C>A) n.1034+10C>A | |
1 | g.1804410G>A | CA521012415 | GNB1 | c.391+9C>T (n.391+9C>T) c.130+9C>T (n.130+9C>T) c.430+9C>T (n.430+9C>T) c.298+9C>T (n.298+9C>T) n.1034+9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804410G>C | CA532040 | GNB1 | c.391+9C>G (n.391+9C>G) c.130+9C>G (n.130+9C>G) c.430+9C>G (n.430+9C>G) c.298+9C>G (n.298+9C>G) n.1034+9C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1804410G= | CA1149323298 | GNB1 | c.391+9C= (n.391+9C=) c.130+9C= (n.130+9C=) c.430+9C= (n.430+9C=) c.298+9C= (n.298+9C=) n.1034+9C= | |
1 | g.1804410G>T | CA2642666557 | GNB1 | c.391+9C>A (n.391+9C>A) c.130+9C>A (n.130+9C>A) c.430+9C>A (n.430+9C>A) c.298+9C>A (n.298+9C>A) n.1034+9C>A | gnomAD v4 |
1 | g.1804411A>C | CA2739664282 | GNB1 | c.391+8T>G (n.391+8T>G) c.130+8T>G (n.130+8T>G) c.430+8T>G (n.430+8T>G) c.298+8T>G (n.298+8T>G) n.1034+8T>G | |
1 | g.1804412C>A | CA2739664283 | GNB1 | c.391+7G>T (n.391+7G>T) c.130+7G>T (n.130+7G>T) c.430+7G>T (n.430+7G>T) c.298+7G>T (n.298+7G>T) n.1034+7G>T | |
1 | g.1804412C>G | CA2739664284 | GNB1 | c.391+7G>C (n.391+7G>C) c.130+7G>C (n.130+7G>C) c.430+7G>C (n.430+7G>C) c.298+7G>C (n.298+7G>C) n.1034+7G>C | |
1 | g.1804412C>T | CA2739664285 | GNB1 | c.391+7G>A (n.391+7G>A) c.130+7G>A (n.130+7G>A) c.430+7G>A (n.430+7G>A) c.298+7G>A (n.298+7G>A) n.1034+7G>A | |
1 | g.1804413A>C | CA2739664287 | GNB1 | c.391+6T>G (n.391+6T>G) c.130+6T>G (n.130+6T>G) c.430+6T>G (n.430+6T>G) c.298+6T>G (n.298+6T>G) n.1034+6T>G | |
1 | g.1804413A>G | CA2642666560 | GNB1 | c.391+6T>C (n.391+6T>C) c.130+6T>C (n.130+6T>C) c.430+6T>C (n.430+6T>C) c.298+6T>C (n.298+6T>C) n.1034+6T>C | gnomAD v4 |
1 | g.1804413A>T | CA2739664286 | GNB1 | c.391+6T>A (n.391+6T>A) c.130+6T>A (n.130+6T>A) c.430+6T>A (n.430+6T>A) c.298+6T>A (n.298+6T>A) n.1034+6T>A | |
1 | g.1804413_1804414delinsAG | CA1149323302 | GNB1 | c.391+5_391+6delinsCT (n.391+5_391+6delinsCT) c.130+5_130+6delinsCT (n.130+5_130+6delinsCT) c.430+5_430+6delinsCT (n.430+5_430+6delinsCT) c.298+5_298+6delinsCT (n.298+5_298+6delinsCT) n.1034+5_1034+6delinsCT | |
1 | g.1804414_1804417dup | CA2580061399 | GNB1 | c.391+3_391+6dup (n.391+3_391+6dup) c.130+3_130+6dup (n.130+3_130+6dup) c.430+3_430+6dup (n.430+3_430+6dup) c.298+3_298+6dup (n.298+3_298+6dup) n.1034+3_1034+6dup | ClinVar |
1 | g.1804415del | CA1149323303 | GNB1 | c.391+5del (n.391+5del) c.130+5del (n.130+5del) c.430+5del (n.430+5del) c.298+5del (n.298+5del) n.1034+5del | dbSNP gnomAD v4 |
1 | g.1804415G>A | CA532041 | GNB1 | c.391+4C>T (n.391+4C>T) c.130+4C>T (n.130+4C>T) c.430+4C>T (n.430+4C>T) c.298+4C>T (n.298+4C>T) n.1034+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804415G>C | CA2739664288 | GNB1 | c.391+4C>G (n.391+4C>G) c.130+4C>G (n.130+4C>G) c.430+4C>G (n.430+4C>G) c.298+4C>G (n.298+4C>G) n.1034+4C>G | |
1 | g.1804415G= | CA1149323306 | GNB1 | c.391+4C= (n.391+4C=) c.130+4C= (n.130+4C=) c.430+4C= (n.430+4C=) c.298+4C= (n.298+4C=) n.1034+4C= | |
1 | g.1804415G>T | CA2739664289 | GNB1 | c.391+4C>A (n.391+4C>A) c.130+4C>A (n.130+4C>A) c.430+4C>A (n.430+4C>A) c.298+4C>A (n.298+4C>A) n.1034+4C>A | |
1 | g.1804416T>A | CA16827525 | GNB1 | c.391+3A>T (n.391+3A>T) c.130+3A>T (n.130+3A>T) c.430+3A>T (n.430+3A>T) c.298+3A>T (n.298+3A>T) n.1034+3A>T | dbSNP |
1 | g.1804416T>C | CA2739664290 | GNB1 | c.391+3A>G (n.391+3A>G) c.130+3A>G (n.130+3A>G) c.430+3A>G (n.430+3A>G) c.298+3A>G (n.298+3A>G) n.1034+3A>G | |
1 | g.1804416T>G | CA2739664291 | GNB1 | c.391+3A>C (n.391+3A>C) c.130+3A>C (n.130+3A>C) c.430+3A>C (n.430+3A>C) c.298+3A>C (n.298+3A>C) n.1034+3A>C | |
1 | g.1804416T= | CA1141242923 | GNB1 | c.391+3A= (n.391+3A=) c.130+3A= (n.130+3A=) c.430+3A= (n.430+3A=) c.298+3A= (n.298+3A=) n.1034+3A= | |
1 | g.1804417A>C | CA337914045 | GNB1 | c.391+2T>G (n.391+2T>G) c.130+2T>G (n.130+2T>G) c.430+2T>G (n.430+2T>G) c.298+2T>G (n.298+2T>G) n.1034+2T>G | |
1 | g.1804417A>G | CA337914048 | GNB1 | c.391+2T>C (n.391+2T>C) c.130+2T>C (n.130+2T>C) c.430+2T>C (n.430+2T>C) c.298+2T>C (n.298+2T>C) n.1034+2T>C | |
1 | g.1804417A>T | CA337914041 | GNB1 | c.391+2T>A (n.391+2T>A) c.130+2T>A (n.130+2T>A) c.430+2T>A (n.430+2T>A) c.298+2T>A (n.298+2T>A) n.1034+2T>A | |
1 | g.1804417dup | CA891889108 | GNB1 | c.391+2dup (n.391+2dup) c.130+2dup (n.130+2dup) c.430+2dup (n.430+2dup) c.298+2dup (n.298+2dup) n.1034+2dup | dbSNP |
1 | g.1804418C>A | CA337914067 | GNB1 | c.391+1G>T (n.391+1G>T) c.130+1G>T (n.130+1G>T) c.430+1G>T (n.430+1G>T) c.298+1G>T (n.298+1G>T) n.1034+1G>T | |
1 | g.1804418C>G | CA337914058 | GNB1 | c.391+1G>C (n.391+1G>C) c.130+1G>C (n.130+1G>C) c.430+1G>C (n.430+1G>C) c.298+1G>C (n.298+1G>C) n.1034+1G>C | |
1 | g.1804418C>T | CA337914063 | GNB1 | c.391+1G>A (n.391+1G>A) c.130+1G>A (n.130+1G>A) c.430+1G>A (n.430+1G>A) c.298+1G>A (n.298+1G>A) n.1034+1G>A | gnomAD v4 |
1 | g.1804419C>A | CA337914069 | GNB1 | c.391G>T (p.Gly131Cys) c.130G>T (p.Gly44Cys) c.430G>T (p.Gly144Cys) c.298G>T (p.Gly100Cys) n.1034G>T | |
1 | g.1804419C>G | CA337914072 | GNB1 | c.391G>C (p.Gly131Arg) c.130G>C (p.Gly44Arg) c.430G>C (p.Gly144Arg) c.298G>C (p.Gly100Arg) n.1034G>C | |
1 | g.1804419C>T | CA337914077 | GNB1 | c.391G>A (p.Gly131Ser) c.130G>A (p.Gly44Ser) c.430G>A (p.Gly144Ser) c.298G>A (p.Gly100Ser) n.1034G>A | |
1 | g.1804420T>A | CA415404085 | GNB1 | c.390A>T (p.Thr130=) c.129A>T (p.Thr43=) c.429A>T (p.Thr143=) c.297A>T (p.Thr99=) n.1033A>T | |
1 | g.1804420T>C | CA415404086 | GNB1 | c.390A>G (p.Thr130=) c.129A>G (p.Thr43=) c.429A>G (p.Thr143=) c.297A>G (p.Thr99=) n.1033A>G | |
1 | g.1804420T>G | CA415404087 | GNB1 | c.390A>C (p.Thr130=) c.129A>C (p.Thr43=) c.429A>C (p.Thr143=) c.297A>C (p.Thr99=) n.1033A>C | |
1 | g.1804421G>A | CA337914082 | GNB1 | c.389C>T (p.Thr130Ile) c.128C>T (p.Thr43Ile) c.428C>T (p.Thr143Ile) c.296C>T (p.Thr99Ile) n.1032C>T | |
1 | g.1804421G>C | CA337914085 | GNB1 | c.389C>G (p.Thr130Arg) c.128C>G (p.Thr43Arg) c.428C>G (p.Thr143Arg) c.296C>G (p.Thr99Arg) n.1032C>G | gnomAD v4 |
1 | g.1804421G>T | CA337914088 | GNB1 | c.389C>A (p.Thr130Lys) c.128C>A (p.Thr43Lys) c.428C>A (p.Thr143Lys) c.296C>A (p.Thr99Lys) n.1032C>A | |
1 | g.1804422T>A | CA337914094 | GNB1 | c.388A>T (p.Thr130Ser) c.127A>T (p.Thr43Ser) c.427A>T (p.Thr143Ser) c.295A>T (p.Thr99Ser) n.1031A>T | |
1 | g.1804422T>C | CA337914098 | GNB1 | c.388A>G (p.Thr130Ala) c.127A>G (p.Thr43Ala) c.427A>G (p.Thr143Ala) c.295A>G (p.Thr99Ala) n.1031A>G | |
1 | g.1804422T>G | CA337914103 | GNB1 | c.388A>C (p.Thr130Pro) c.127A>C (p.Thr43Pro) c.427A>C (p.Thr143Pro) c.295A>C (p.Thr99Pro) n.1031A>C | |
1 | g.1804423G>A | CA415404089 | GNB1 | c.387C>T (p.His129=) c.126C>T (p.His42=) c.426C>T (p.His142=) c.294C>T (p.His98=) n.1030C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1804423G>C | CA337914112 | GNB1 | c.387C>G (p.His129Gln) c.126C>G (p.His42Gln) c.426C>G (p.His142Gln) c.294C>G (p.His98Gln) n.1030C>G | |
1 | g.1804423G= | CA1149323310 | GNB1 | c.387C= (p.His129=) c.126C= (p.His42=) c.426C= (p.His142=) c.294C= (p.His98=) n.1030C= | |
1 | g.1804423G>T | CA337914114 | GNB1 | c.387C>A (p.His129Gln) c.126C>A (p.His42Gln) c.426C>A (p.His142Gln) c.294C>A (p.His98Gln) n.1030C>A | |
1 | g.1804424T>A | CA337914125 | GNB1 | c.386A>T (p.His129Leu) c.125A>T (p.His42Leu) c.425A>T (p.His142Leu) c.293A>T (p.His98Leu) n.1029A>T | |
1 | g.1804424T>C | CA337914122 | GNB1 | c.386A>G (p.His129Arg) c.125A>G (p.His42Arg) c.425A>G (p.His142Arg) c.293A>G (p.His98Arg) n.1029A>G | |
1 | g.1804424T>G | CA337914119 | GNB1 | c.386A>C (p.His129Pro) c.125A>C (p.His42Pro) c.425A>C (p.His142Pro) c.293A>C (p.His98Pro) n.1029A>C | |
1 | g.1804425G>A | CA337914129 | GNB1 | c.385C>T (p.His129Tyr) c.124C>T (p.His42Tyr) c.424C>T (p.His142Tyr) c.292C>T (p.His98Tyr) n.1028C>T | |
1 | g.1804425G>C | CA337914131 | GNB1 | c.385C>G (p.His129Asp) c.124C>G (p.His42Asp) c.424C>G (p.His142Asp) c.292C>G (p.His98Asp) n.1028C>G | |
1 | g.1804425G>T | CA337914135 | GNB1 | c.385C>A (p.His129Asn) c.124C>A (p.His42Asn) c.424C>A (p.His142Asn) c.292C>A (p.His98Asn) n.1028C>A | gnomAD v4 |
1 | g.1804426T>A | CA415404092 | GNB1 | c.384A>T (p.Gly128=) c.123A>T (p.Gly41=) c.423A>T (p.Gly141=) c.291A>T (p.Gly97=) n.1027A>T | |
1 | g.1804426T>C | CA532042 | GNB1 | c.384A>G (p.Gly128=) c.123A>G (p.Gly41=) c.423A>G (p.Gly141=) c.291A>G (p.Gly97=) n.1027A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804426T>G | CA415404091 | GNB1 | c.384A>C (p.Gly128=) c.123A>C (p.Gly41=) c.423A>C (p.Gly141=) c.291A>C (p.Gly97=) n.1027A>C | |
1 | g.1804426T= | CA1149323314 | GNB1 | c.384A= (p.Gly128=) c.123A= (p.Gly41=) c.423A= (p.Gly141=) c.291A= (p.Gly97=) n.1027A= | |
1 | g.1804427C>A | CA337914144 | GNB1 | c.383G>T (p.Gly128Val) c.122G>T (p.Gly41Val) c.422G>T (p.Gly141Val) c.290G>T (p.Gly97Val) n.1026G>T | |
1 | g.1804427C>G | CA337914147 | GNB1 | c.383G>C (p.Gly128Ala) c.122G>C (p.Gly41Ala) c.422G>C (p.Gly141Ala) c.290G>C (p.Gly97Ala) n.1026G>C | |
1 | g.1804427C>T | CA337914150 | GNB1 | c.383G>A (p.Gly128Glu) c.122G>A (p.Gly41Glu) c.422G>A (p.Gly141Glu) c.290G>A (p.Gly97Glu) n.1026G>A | |
1 | g.1804428C>A | CA337914156 | GNB1 | c.382G>T (p.Gly128Ter) c.121G>T (p.Gly41Ter) c.421G>T (p.Gly141Ter) c.289G>T (p.Gly97Ter) n.1025G>T | |
1 | g.1804428C>G | CA337914159 | GNB1 | c.382G>C (p.Gly128Arg) c.121G>C (p.Gly41Arg) c.421G>C (p.Gly141Arg) c.289G>C (p.Gly97Arg) n.1025G>C | |
1 | g.1804428C>T | CA337914162 | GNB1 | c.382G>A (p.Gly128Arg) c.121G>A (p.Gly41Arg) c.421G>A (p.Gly141Arg) c.289G>A (p.Gly97Arg) n.1025G>A | |
1 | g.1804429T>A | CA415404094 | GNB1 | c.381A>T (p.Ala127=) c.120A>T (p.Ala40=) c.420A>T (p.Ala140=) c.288A>T (p.Ala96=) n.1024A>T | |
1 | g.1804429T>C | CA415404095 | GNB1 | c.381A>G (p.Ala127=) c.120A>G (p.Ala40=) c.420A>G (p.Ala140=) c.288A>G (p.Ala96=) n.1024A>G | gnomAD v4 |
1 | g.1804429T>G | CA415404096 | GNB1 | c.381A>C (p.Ala127=) c.120A>C (p.Ala40=) c.420A>C (p.Ala140=) c.288A>C (p.Ala96=) n.1024A>C | |
1 | g.1804430G>A | CA337914166 | GNB1 | c.380C>T (p.Ala127Val) c.119C>T (p.Ala40Val) c.419C>T (p.Ala140Val) c.287C>T (p.Ala96Val) n.1023C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1804430G>C | CA337914167 | GNB1 | c.380C>G (p.Ala127Gly) c.119C>G (p.Ala40Gly) c.419C>G (p.Ala140Gly) c.287C>G (p.Ala96Gly) n.1023C>G | |
1 | g.1804430G= | CA1149323318 | GNB1 | c.380C= (p.Ala127=) c.119C= (p.Ala40=) c.419C= (p.Ala140=) c.287C= (p.Ala96=) n.1023C= | |
1 | g.1804430G>T | CA337914168 | GNB1 | c.380C>A (p.Ala127Glu) c.119C>A (p.Ala40Glu) c.419C>A (p.Ala140Glu) c.287C>A (p.Ala96Glu) n.1023C>A | |
1 | g.1804431C>A | CA337914173 | GNB1 | c.379G>T (p.Ala127Ser) c.118G>T (p.Ala40Ser) c.418G>T (p.Ala140Ser) c.286G>T (p.Ala96Ser) n.1022G>T | |
1 | g.1804431C>G | CA337914177 | GNB1 | c.379G>C (p.Ala127Pro) c.118G>C (p.Ala40Pro) c.418G>C (p.Ala140Pro) c.286G>C (p.Ala96Pro) n.1022G>C | |
1 | g.1804431C>T | CA337914170 | GNB1 | c.379G>A (p.Ala127Thr) c.118G>A (p.Ala40Thr) c.418G>A (p.Ala140Thr) c.286G>A (p.Ala96Thr) n.1022G>A | |
1 | g.1804432C>A | CA415404097 | GNB1 | c.378G>T (p.Leu126=) c.117G>T (p.Leu39=) c.417G>T (p.Leu139=) c.285G>T (p.Leu95=) n.1021G>T | |
1 | g.1804432C= | CA1149323320 | GNB1 | c.378G= (p.Leu126=) c.117G= (p.Leu39=) c.417G= (p.Leu139=) c.285G= (p.Leu95=) n.1021G= | |
1 | g.1804432C>G | CA415404098 | GNB1 | c.378G>C (p.Leu126=) c.117G>C (p.Leu39=) c.417G>C (p.Leu139=) c.285G>C (p.Leu95=) n.1021G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804432C>T | CA415404099 | GNB1 | c.378G>A (p.Leu126=) c.117G>A (p.Leu39=) c.417G>A (p.Leu139=) c.285G>A (p.Leu95=) n.1021G>A | |
1 | g.1804433A>C | CA337914181 | GNB1 | c.377T>G (p.Leu126Arg) c.116T>G (p.Leu39Arg) c.416T>G (p.Leu139Arg) c.284T>G (p.Leu95Arg) n.1020T>G | |
1 | g.1804433A>G | CA337914186 | GNB1 | c.377T>C (p.Leu126Pro) c.116T>C (p.Leu39Pro) c.416T>C (p.Leu139Pro) c.284T>C (p.Leu95Pro) n.1020T>C | |
1 | g.1804433A>T | CA337914188 | GNB1 | c.377T>A (p.Leu126Gln) c.116T>A (p.Leu39Gln) c.416T>A (p.Leu139Gln) c.284T>A (p.Leu95Gln) n.1020T>A | |
1 | g.1804434G>A | CA415404103 | GNB1 | c.376C>T (p.Leu126=) c.115C>T (p.Leu39=) c.415C>T (p.Leu139=) c.283C>T (p.Leu95=) n.1019C>T | |
1 | g.1804434G>C | CA337914193 | GNB1 | c.376C>G (p.Leu126Val) c.115C>G (p.Leu39Val) c.415C>G (p.Leu139Val) c.283C>G (p.Leu95Val) n.1019C>G | |
1 | g.1804434G>T | CA337914197 | GNB1 | c.376C>A (p.Leu126Met) c.115C>A (p.Leu39Met) c.415C>A (p.Leu139Met) c.283C>A (p.Leu95Met) n.1019C>A | |
1 | g.1804435C>A | CA337914204 | GNB1 | c.375G>T (p.Glu125Asp) c.114G>T (p.Glu38Asp) c.414G>T (p.Glu138Asp) c.282G>T (p.Glu94Asp) n.1018G>T | |
1 | g.1804435C>G | CA337914211 | GNB1 | c.375G>C (p.Glu125Asp) c.114G>C (p.Glu38Asp) c.414G>C (p.Glu138Asp) c.282G>C (p.Glu94Asp) n.1018G>C | |
1 | g.1804435C>T | CA415404104 | GNB1 | c.375G>A (p.Glu125=) c.114G>A (p.Glu38=) c.414G>A (p.Glu138=) c.282G>A (p.Glu94=) n.1018G>A | |
1 | g.1804436T>A | CA337914216 | GNB1 | c.374A>T (p.Glu125Val) c.113A>T (p.Glu38Val) c.413A>T (p.Glu138Val) c.281A>T (p.Glu94Val) n.1017A>T | |
1 | g.1804436T>C | CA337914220 | GNB1 | c.374A>G (p.Glu125Gly) c.113A>G (p.Glu38Gly) c.413A>G (p.Glu138Gly) c.281A>G (p.Glu94Gly) n.1017A>G | |
1 | g.1804436T>G | CA337914223 | GNB1 | c.374A>C (p.Glu125Ala) c.113A>C (p.Glu38Ala) c.413A>C (p.Glu138Ala) c.281A>C (p.Glu94Ala) n.1017A>C | |
1 | g.1804437C>A | CA337914226 | GNB1 | c.373G>T (p.Glu125Ter) c.112G>T (p.Glu38Ter) c.412G>T (p.Glu138Ter) c.280G>T (p.Glu94Ter) n.1016G>T | |
1 | g.1804437C>G | CA337914231 | GNB1 | c.373G>C (p.Glu125Gln) c.112G>C (p.Glu38Gln) c.412G>C (p.Glu138Gln) c.280G>C (p.Glu94Gln) n.1016G>C | |
1 | g.1804437C>T | CA337914235 | GNB1 | c.373G>A (p.Glu125Lys) c.112G>A (p.Glu38Lys) c.412G>A (p.Glu138Lys) c.280G>A (p.Glu94Lys) n.1016G>A | |
1 | g.1804438A>C | CA415404107 | GNB1 | c.372T>G (p.Arg124=) c.111T>G (p.Arg37=) c.411T>G (p.Arg137=) c.279T>G (p.Arg93=) n.1015T>G | |
1 | g.1804438A>G | CA415404108 | GNB1 | c.372T>C (p.Arg124=) c.111T>C (p.Arg37=) c.411T>C (p.Arg137=) c.279T>C (p.Arg93=) n.1015T>C | |
1 | g.1804438A>T | CA415404110 | GNB1 | c.372T>A (p.Arg124=) c.111T>A (p.Arg37=) c.411T>A (p.Arg137=) c.279T>A (p.Arg93=) n.1015T>A | gnomAD v4 |
1 | g.1804439C>A | CA337914242 | GNB1 | c.371G>T (p.Arg124Leu) c.110G>T (p.Arg37Leu) c.410G>T (p.Arg137Leu) c.278G>T (p.Arg93Leu) n.1014G>T | |
1 | g.1804439C>G | CA337914247 | GNB1 | c.371G>C (p.Arg124Pro) c.110G>C (p.Arg37Pro) c.410G>C (p.Arg137Pro) c.278G>C (p.Arg93Pro) n.1014G>C | |
1 | g.1804439C>T | CA337914244 | GNB1 | c.371G>A (p.Arg124His) c.110G>A (p.Arg37His) c.410G>A (p.Arg137His) c.278G>A (p.Arg93His) n.1014G>A | gnomAD v4 |
1 | g.1804440G>A | CA337914254 | GNB1 | c.370C>T (p.Arg124Cys) c.109C>T (p.Arg37Cys) c.409C>T (p.Arg137Cys) c.277C>T (p.Arg93Cys) n.1013C>T | |
1 | g.1804440G>C | CA337914259 | GNB1 | c.370C>G (p.Arg124Gly) c.109C>G (p.Arg37Gly) c.409C>G (p.Arg137Gly) c.277C>G (p.Arg93Gly) n.1013C>G | |
1 | g.1804440G>T | CA337914262 | GNB1 | c.370C>A (p.Arg124Ser) c.109C>A (p.Arg37Ser) c.409C>A (p.Arg137Ser) c.277C>A (p.Arg93Ser) n.1013C>A | gnomAD v4 |
1 | g.1804441A>C | CA337914265 | GNB1 | c.369T>G (p.Ser123Arg) c.108T>G (p.Ser36Arg) c.408T>G (p.Ser136Arg) c.276T>G (p.Ser92Arg) n.1012T>G | |
1 | g.1804441A>G | CA415404111 | GNB1 | c.369T>C (p.Ser123=) c.108T>C (p.Ser36=) c.408T>C (p.Ser136=) c.276T>C (p.Ser92=) n.1012T>C | |
1 | g.1804441A>T | CA337914268 | GNB1 | c.369T>A (p.Ser123Arg) c.108T>A (p.Ser36Arg) c.408T>A (p.Ser136Arg) c.276T>A (p.Ser92Arg) n.1012T>A | |
1 | g.1804442C>A | CA337914273 | GNB1 | c.368G>T (p.Ser123Ile) c.107G>T (p.Ser36Ile) c.407G>T (p.Ser136Ile) c.275G>T (p.Ser92Ile) n.1011G>T | |
1 | g.1804442C= | CA1149323324 | GNB1 | c.368G= (p.Ser123=) c.107G= (p.Ser36=) c.407G= (p.Ser136=) c.275G= (p.Ser92=) n.1011G= | |
1 | g.1804442C>G | CA337914275 | GNB1 | c.368G>C (p.Ser123Thr) c.107G>C (p.Ser36Thr) c.407G>C (p.Ser136Thr) c.275G>C (p.Ser92Thr) n.1011G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1804442C>T | CA337914278 | GNB1 | c.368G>A (p.Ser123Asn) c.107G>A (p.Ser36Asn) c.407G>A (p.Ser136Asn) c.275G>A (p.Ser92Asn) n.1011G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1804443T>A | CA337914284 | GNB1 | c.367A>T (p.Ser123Cys) c.106A>T (p.Ser36Cys) c.406A>T (p.Ser136Cys) c.274A>T (p.Ser92Cys) n.1010A>T | |
1 | g.1804443T>C | CA337914288 | GNB1 | c.367A>G (p.Ser123Gly) c.106A>G (p.Ser36Gly) c.406A>G (p.Ser136Gly) c.274A>G (p.Ser92Gly) n.1010A>G | |
1 | g.1804443T>G | CA337914295 | GNB1 | c.367A>C (p.Ser123Arg) c.106A>C (p.Ser36Arg) c.406A>C (p.Ser136Arg) c.274A>C (p.Ser92Arg) n.1010A>C | |
1 | g.1804444C>A | CA415404115 | GNB1 | c.366G>T (p.Val122=) c.105G>T (p.Val35=) c.405G>T (p.Val135=) c.273G>T (p.Val91=) n.1009G>T | |
1 | g.1804444C>G | CA415404116 | GNB1 | c.366G>C (p.Val122=) c.105G>C (p.Val35=) c.405G>C (p.Val135=) c.273G>C (p.Val91=) n.1009G>C | |
1 | g.1804444C>T | CA415404117 | GNB1 | c.366G>A (p.Val122=) c.105G>A (p.Val35=) c.405G>A (p.Val135=) c.273G>A (p.Val91=) n.1009G>A | |
1 | g.1804445A>C | CA337914303 | GNB1 | c.365T>G (p.Val122Gly) c.104T>G (p.Val35Gly) c.404T>G (p.Val135Gly) c.272T>G (p.Val91Gly) n.1008T>G | |
1 | g.1804445A>G | CA337914308 | GNB1 | c.365T>C (p.Val122Ala) c.104T>C (p.Val35Ala) c.404T>C (p.Val135Ala) c.272T>C (p.Val91Ala) n.1008T>C | |
1 | g.1804445A>T | CA337914299 | GNB1 | c.365T>A (p.Val122Glu) c.104T>A (p.Val35Glu) c.404T>A (p.Val135Glu) c.272T>A (p.Val91Glu) n.1008T>A | |
1 | g.1804446C>A | CA337914315 | GNB1 | c.364G>T (p.Val122Leu) c.103G>T (p.Val35Leu) c.403G>T (p.Val135Leu) c.271G>T (p.Val91Leu) n.1007G>T | |
1 | g.1804446C>G | CA337914311 | GNB1 | c.364G>C (p.Val122Leu) c.103G>C (p.Val35Leu) c.403G>C (p.Val135Leu) c.271G>C (p.Val91Leu) n.1007G>C | |
1 | g.1804446C>T | CA337914313 | GNB1 | c.364G>A (p.Val122Met) c.103G>A (p.Val35Met) c.403G>A (p.Val135Met) c.271G>A (p.Val91Met) n.1007G>A | gnomAD v4 COSMIC |
1 | g.1804447G>A | CA532043 | GNB1 | c.363C>T (p.Arg121=) c.102C>T (p.Arg34=) c.402C>T (p.Arg134=) c.270C>T (p.Arg90=) n.1006C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.1804447G>C | CA415404119 | GNB1 | c.363C>G (p.Arg121=) c.102C>G (p.Arg34=) c.402C>G (p.Arg134=) c.270C>G (p.Arg90=) n.1006C>G | |
1 | g.1804447G= | CA1146745488 | GNB1 | c.363C= (p.Arg121=) c.102C= (p.Arg34=) c.402C= (p.Arg134=) c.270C= (p.Arg90=) n.1006C= | |
1 | g.1804447G>T | CA415404118 | GNB1 | c.363C>A (p.Arg121=) c.102C>A (p.Arg34=) c.402C>A (p.Arg134=) c.270C>A (p.Arg90=) n.1006C>A | |
1 | g.1804448C>A | CA337914330 | GNB1 | c.362G>T (p.Arg121Leu) c.101G>T (p.Arg34Leu) c.401G>T (p.Arg134Leu) c.269G>T (p.Arg90Leu) n.1005G>T | |
1 | g.1804448C= | CA1149323328 | GNB1 | c.362G= (p.Arg121=) c.101G= (p.Arg34=) c.401G= (p.Arg134=) c.269G= (p.Arg90=) n.1005G= | |
1 | g.1804448C>G | CA337914333 | GNB1 | c.362G>C (p.Arg121Pro) c.101G>C (p.Arg34Pro) c.401G>C (p.Arg134Pro) c.269G>C (p.Arg90Pro) n.1005G>C | |
1 | g.1804448C>T | CA337914338 | GNB1 | c.362G>A (p.Arg121His) c.101G>A (p.Arg34His) c.401G>A (p.Arg134His) c.269G>A (p.Arg90His) n.1005G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1804449G>A | CA337914343 | GNB1 | c.361C>T (p.Arg121Cys) c.100C>T (p.Arg34Cys) c.400C>T (p.Arg134Cys) c.268C>T (p.Arg90Cys) n.1004C>T | gnomAD v4 |
1 | g.1804449G>C | CA337914346 | GNB1 | c.361C>G (p.Arg121Gly) c.100C>G (p.Arg34Gly) c.400C>G (p.Arg134Gly) c.268C>G (p.Arg90Gly) n.1004C>G | |
1 | g.1804449G>T | CA337914348 | GNB1 | c.361C>A (p.Arg121Ser) c.100C>A (p.Arg34Ser) c.400C>A (p.Arg134Ser) c.268C>A (p.Arg90Ser) n.1004C>A | |
1 | g.1804450C>A | CA415404120 | GNB1 | c.360G>T (p.Val120=) c.99G>T (p.Val33=) c.399G>T (p.Val133=) c.267G>T (p.Val89=) n.1003G>T | |
1 | g.1804450C= | CA1149323334 | GNB1 | c.360G= (p.Val120=) c.99G= (p.Val33=) c.399G= (p.Val133=) c.267G= (p.Val89=) n.1003G= | |
1 | g.1804450C>G | CA415404121 | GNB1 | c.360G>C (p.Val120=) c.99G>C (p.Val33=) c.399G>C (p.Val133=) c.267G>C (p.Val89=) n.1003G>C | |
1 | g.1804450C>T | CA16827538 | GNB1 | c.360G>A (p.Val120=) c.99G>A (p.Val33=) c.399G>A (p.Val133=) c.267G>A (p.Val89=) n.1003G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.1804451A>C | CA337914352 | GNB1 | c.359T>G (p.Val120Gly) c.98T>G (p.Val33Gly) c.398T>G (p.Val133Gly) c.266T>G (p.Val89Gly) n.1002T>G | |
1 | g.1804451A>G | CA337914355 | GNB1 | c.359T>C (p.Val120Ala) c.98T>C (p.Val33Ala) c.398T>C (p.Val133Ala) c.266T>C (p.Val89Ala) n.1002T>C | |
1 | g.1804451A>T | CA337914358 | GNB1 | c.359T>A (p.Val120Glu) c.98T>A (p.Val33Glu) c.398T>A (p.Val133Glu) c.266T>A (p.Val89Glu) n.1002T>A | |
1 | g.1804452C>A | CA337914365 | GNB1 | c.358G>T (p.Val120Leu) c.97G>T (p.Val33Leu) c.397G>T (p.Val133Leu) c.265G>T (p.Val89Leu) n.1001G>T | |
1 | g.1804452C= | CA1149323336 | GNB1 | c.358G= (p.Val120=) c.97G= (p.Val33=) c.397G= (p.Val133=) c.265G= (p.Val89=) n.1001G= | |
1 | g.1804452C>G | CA337914369 | GNB1 | c.358G>C (p.Val120Leu) c.97G>C (p.Val33Leu) c.397G>C (p.Val133Leu) c.265G>C (p.Val89Leu) n.1001G>C | |
1 | g.1804452C>T | CA532044 | GNB1 | c.358G>A (p.Val120Met) c.97G>A (p.Val33Met) c.397G>A (p.Val133Met) c.265G>A (p.Val89Met) n.1001G>A | dbSNP ExAC gnomAD v4 |
1 | g.1804453G>A | CA415404122 | GNB1 | c.357C>T (p.Asn119=) c.96C>T (p.Asn32=) c.396C>T (p.Asn132=) c.264C>T (p.Asn88=) n.1000C>T | ClinVar dbSNP gnomAD v4 |
1 | g.1804453G>C | CA337914372 | GNB1 | c.357C>G (p.Asn119Lys) c.96C>G (p.Asn32Lys) c.396C>G (p.Asn132Lys) c.264C>G (p.Asn88Lys) n.1000C>G | |
1 | g.1804453G= | CA1149323339 | GNB1 | c.357C= (p.Asn119=) c.96C= (p.Asn32=) c.396C= (p.Asn132=) c.264C= (p.Asn88=) n.1000C= | |
1 | g.1804453G>T | CA337914374 | GNB1 | c.357C>A (p.Asn119Lys) c.96C>A (p.Asn32Lys) c.396C>A (p.Asn132Lys) c.264C>A (p.Asn88Lys) n.1000C>A | |
1 | g.1804454T>A | CA337914388 | GNB1 | c.356A>T (p.Asn119Ile) c.95A>T (p.Asn32Ile) c.395A>T (p.Asn132Ile) c.263A>T (p.Asn88Ile) n.999A>T | |
1 | g.1804454T>C | CA337914391 | GNB1 | c.356A>G (p.Asn119Ser) c.95A>G (p.Asn32Ser) c.395A>G (p.Asn132Ser) c.263A>G (p.Asn88Ser) n.999A>G | dbSNP gnomAD v4 |
1 | g.1804454T>G | CA337914394 | GNB1 | c.356A>C (p.Asn119Thr) c.95A>C (p.Asn32Thr) c.395A>C (p.Asn132Thr) c.263A>C (p.Asn88Thr) n.999A>C | |
1 | g.1804454T= | CA1149323341 | GNB1 | c.356A= (p.Asn119=) c.95A= (p.Asn32=) c.395A= (p.Asn132=) c.263A= (p.Asn88=) n.999A= | |
1 | g.1804455T>A | CA337914405 | GNB1 | c.355A>T (p.Asn119Tyr) c.94A>T (p.Asn32Tyr) c.394A>T (p.Asn132Tyr) c.262A>T (p.Asn88Tyr) n.998A>T | |
1 | g.1804455T>C | CA337914400 | GNB1 | c.355A>G (p.Asn119Asp) c.94A>G (p.Asn32Asp) c.394A>G (p.Asn132Asp) c.262A>G (p.Asn88Asp) n.998A>G | |
1 | g.1804455T>G | CA337914403 | GNB1 | c.355A>C (p.Asn119His) c.94A>C (p.Asn32His) c.394A>C (p.Asn132His) c.262A>C (p.Asn88His) n.998A>C | |
1 | g.1804456C>A | CA415404124 | GNB1 | c.354G>T (p.Gly118=) c.93G>T (p.Gly31=) c.393G>T (p.Gly131=) c.261G>T (p.Gly87=) n.997G>T | |
1 | g.1804456C>G | CA415404125 | GNB1 | c.354G>C (p.Gly118=) c.93G>C (p.Gly31=) c.393G>C (p.Gly131=) c.261G>C (p.Gly87=) n.997G>C | |
1 | g.1804456C>T | CA415404123 | GNB1 | c.354G>A (p.Gly118=) c.93G>A (p.Gly31=) c.393G>A (p.Gly131=) c.261G>A (p.Gly87=) n.997G>A | |
1 | g.1804457C>A | CA337914409 | GNB1 | c.353G>T (p.Gly118Val) c.92G>T (p.Gly31Val) c.392G>T (p.Gly131Val) c.260G>T (p.Gly87Val) n.996G>T | |
1 | g.1804457C>G | CA337914413 | GNB1 | c.353G>C (p.Gly118Ala) c.92G>C (p.Gly31Ala) c.392G>C (p.Gly131Ala) c.260G>C (p.Gly87Ala) n.996G>C | |
1 | g.1804457C>T | CA337914417 | GNB1 | c.353G>A (p.Gly118Glu) c.92G>A (p.Gly31Glu) c.392G>A (p.Gly131Glu) c.260G>A (p.Gly87Glu) n.996G>A | |
1 | g.1804458C>A | CA337914422 | GNB1 | c.352G>T (p.Gly118Trp) c.91G>T (p.Gly31Trp) c.391G>T (p.Gly131Trp) c.259G>T (p.Gly87Trp) n.995G>T | |
1 | g.1804458C>G | CA337914424 | GNB1 | c.352G>C (p.Gly118Arg) c.91G>C (p.Gly31Arg) c.391G>C (p.Gly131Arg) c.259G>C (p.Gly87Arg) n.995G>C | |
1 | g.1804458C>T | CA337914427 | GNB1 | c.352G>A (p.Gly118Arg) c.91G>A (p.Gly31Arg) c.391G>A (p.Gly131Arg) c.259G>A (p.Gly87Arg) n.995G>A | |
1 | g.1804459C>A | CA337914441 | GNB1 | c.351G>T (p.Glu117Asp) c.90G>T (p.Glu30Asp) c.390G>T (p.Glu130Asp) c.258G>T (p.Glu86Asp) n.994G>T | |
1 | g.1804459C= | CA1149323342 | GNB1 | c.351G= (p.Glu117=) c.90G= (p.Glu30=) c.390G= (p.Glu130=) c.258G= (p.Glu86=) n.994G= | |
1 | g.1804459C>G | CA337914431 | GNB1 | c.351G>C (p.Glu117Asp) c.90G>C (p.Glu30Asp) c.390G>C (p.Glu130Asp) c.258G>C (p.Glu86Asp) n.994G>C | |
1 | g.1804459C>T | CA415404126 | GNB1 | c.351G>A (p.Glu117=) c.90G>A (p.Glu30=) c.390G>A (p.Glu130=) c.258G>A (p.Glu86=) n.994G>A | dbSNP |
1 | g.1804460T>A | CA337914447 | GNB1 | c.350A>T (p.Glu117Val) c.89A>T (p.Glu30Val) c.389A>T (p.Glu130Val) c.257A>T (p.Glu86Val) n.993A>T | |
1 | g.1804460T>C | CA337914448 | GNB1 | c.350A>G (p.Glu117Gly) c.89A>G (p.Glu30Gly) c.389A>G (p.Glu130Gly) c.257A>G (p.Glu86Gly) n.993A>G | |
1 | g.1804460T>G | CA337914451 | GNB1 | c.350A>C (p.Glu117Ala) c.89A>C (p.Glu30Ala) c.389A>C (p.Glu130Ala) c.257A>C (p.Glu86Ala) n.993A>C | |
1 | g.1804461C>A | CA337914455 | GNB1 | c.349G>T (p.Glu117Ter) c.88G>T (p.Glu30Ter) c.388G>T (p.Glu130Ter) c.256G>T (p.Glu86Ter) n.992G>T | |
1 | g.1804461C= | CA1149323343 | GNB1 | c.349G= (p.Glu117=) c.88G= (p.Glu30=) c.388G= (p.Glu130=) c.256G= (p.Glu86=) n.992G= | |
1 | g.1804461C>G | CA337914459 | GNB1 | c.349G>C (p.Glu117Gln) c.88G>C (p.Glu30Gln) c.388G>C (p.Glu130Gln) c.256G>C (p.Glu86Gln) n.992G>C | |
1 | g.1804461C>T | CA337914460 | GNB1 | c.349G>A (p.Glu117Lys) c.88G>A (p.Glu30Lys) c.388G>A (p.Glu130Lys) c.256G>A (p.Glu86Lys) n.992G>A | ClinVar dbSNP |
1 | g.1804462A>C | CA415404127 | GNB1 | c.348T>G (p.Arg116=) c.87T>G (p.Arg29=) c.387T>G (p.Arg129=) c.255T>G (p.Arg85=) n.991T>G | |
1 | g.1804462A>G | CA415404128 | GNB1 | c.348T>C (p.Arg116=) c.87T>C (p.Arg29=) c.387T>C (p.Arg129=) c.255T>C (p.Arg85=) n.991T>C | |
1 | g.1804462A>T | CA415404129 | GNB1 | c.348T>A (p.Arg116=) c.87T>A (p.Arg29=) c.387T>A (p.Arg129=) c.255T>A (p.Arg85=) n.991T>A | |
1 | g.1804463C>A | CA337914471 | GNB1 | c.347G>T (p.Arg116Leu) c.86G>T (p.Arg29Leu) c.386G>T (p.Arg129Leu) c.254G>T (p.Arg85Leu) n.990G>T | |
1 | g.1804463C= | CA1149323344 | GNB1 | c.347G= (p.Arg116=) c.86G= (p.Arg29=) c.386G= (p.Arg129=) c.254G= (p.Arg85=) n.990G= | |
1 | g.1804463C>G | CA337914468 | GNB1 | c.347G>C (p.Arg116Pro) c.86G>C (p.Arg29Pro) c.386G>C (p.Arg129Pro) c.254G>C (p.Arg85Pro) n.990G>C | |
1 | g.1804463C>T | CA337914465 | GNB1 | c.347G>A (p.Arg116His) c.86G>A (p.Arg29His) c.386G>A (p.Arg129His) c.254G>A (p.Arg85His) n.990G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.1804464G>A | CA337914476 | GNB1 | c.346C>T (p.Arg116Cys) c.85C>T (p.Arg29Cys) c.385C>T (p.Arg129Cys) c.253C>T (p.Arg85Cys) n.989C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804464G>C | CA337914479 | GNB1 | c.346C>G (p.Arg116Gly) c.85C>G (p.Arg29Gly) c.385C>G (p.Arg129Gly) c.253C>G (p.Arg85Gly) n.989C>G | |
1 | g.1804464G= | CA1149323345 | GNB1 | c.346C= (p.Arg116=) c.85C= (p.Arg29=) c.385C= (p.Arg129=) c.253C= (p.Arg85=) n.989C= | |
1 | g.1804464G>T | CA337914481 | GNB1 | c.346C>A (p.Arg116Ser) c.85C>A (p.Arg29Ser) c.385C>A (p.Arg129Ser) c.253C>A (p.Arg85Ser) n.989C>A | |
1 | g.1804465A>C | CA415404130 | GNB1 | c.345T>G (p.Thr115=) c.84T>G (p.Thr28=) c.384T>G (p.Thr128=) c.252T>G (p.Thr84=) n.988T>G | |
1 | g.1804465A>G | CA415404131 | GNB1 | c.345T>C (p.Thr115=) c.84T>C (p.Thr28=) c.384T>C (p.Thr128=) c.252T>C (p.Thr84=) n.988T>C | |
1 | g.1804465A>T | CA415404132 | GNB1 | c.345T>A (p.Thr115=) c.84T>A (p.Thr28=) c.384T>A (p.Thr128=) c.252T>A (p.Thr84=) n.988T>A | |
1 | g.1804466G>A | CA337914485 | GNB1 | c.344C>T (p.Thr115Ile) c.83C>T (p.Thr28Ile) c.383C>T (p.Thr128Ile) c.251C>T (p.Thr84Ile) n.987C>T | dbSNP |
1 | g.1804466G>C | CA337914496 | GNB1 | c.344C>G (p.Thr115Ser) c.83C>G (p.Thr28Ser) c.383C>G (p.Thr128Ser) c.251C>G (p.Thr84Ser) n.987C>G | |
1 | g.1804466G= | CA1149323346 | GNB1 | c.344C= (p.Thr115=) c.83C= (p.Thr28=) c.383C= (p.Thr128=) c.251C= (p.Thr84=) n.987C= | |
1 | g.1804466G>T | CA337914499 | GNB1 | c.344C>A (p.Thr115Asn) c.83C>A (p.Thr28Asn) c.383C>A (p.Thr128Asn) c.251C>A (p.Thr84Asn) n.987C>A | |
1 | g.1804467T>A | CA337914522 | GNB1 | c.343A>T (p.Thr115Ser) c.82A>T (p.Thr28Ser) c.382A>T (p.Thr128Ser) c.250A>T (p.Thr84Ser) n.986A>T | |
1 | g.1804467T>C | CA337914527 | GNB1 | c.343A>G (p.Thr115Ala) c.82A>G (p.Thr28Ala) c.382A>G (p.Thr128Ala) c.250A>G (p.Thr84Ala) n.986A>G | |
1 | g.1804467T>G | CA337914524 | GNB1 | c.343A>C (p.Thr115Pro) c.82A>C (p.Thr28Pro) c.382A>C (p.Thr128Pro) c.250A>C (p.Thr84Pro) n.986A>C | |
1 | g.1804468T>A | CA337914529 | GNB1 | c.342A>T (p.Lys114Asn) c.81A>T (p.Lys27Asn) c.381A>T (p.Lys127Asn) c.249A>T (p.Lys83Asn) n.985A>T | |
1 | g.1804468T>C | CA415404133 | GNB1 | c.342A>G (p.Lys114=) c.81A>G (p.Lys27=) c.381A>G (p.Lys127=) c.249A>G (p.Lys83=) n.985A>G | |
1 | g.1804468T>G | CA337914532 | GNB1 | c.342A>C (p.Lys114Asn) c.81A>C (p.Lys27Asn) c.381A>C (p.Lys127Asn) c.249A>C (p.Lys83Asn) n.985A>C | |
1 | g.1804469T>A | CA337914537 | GNB1 | c.341A>T (p.Lys114Ile) c.80A>T (p.Lys27Ile) c.380A>T (p.Lys127Ile) c.248A>T (p.Lys83Ile) n.984A>T | |
1 | g.1804469T>C | CA337914539 | GNB1 | c.341A>G (p.Lys114Arg) c.80A>G (p.Lys27Arg) c.380A>G (p.Lys127Arg) c.248A>G (p.Lys83Arg) n.984A>G | |
1 | g.1804469T>G | CA337914543 | GNB1 | c.341A>C (p.Lys114Thr) c.80A>C (p.Lys27Thr) c.380A>C (p.Lys127Thr) c.248A>C (p.Lys83Thr) n.984A>C | |
1 | g.1804470T>A | CA337914550 | GNB1 | c.340A>T (p.Lys114Ter) c.79A>T (p.Lys27Ter) c.379A>T (p.Lys127Ter) c.247A>T (p.Lys83Ter) n.983A>T | |
1 | g.1804470T>C | CA337914561 | GNB1 | c.340A>G (p.Lys114Glu) c.79A>G (p.Lys27Glu) c.379A>G (p.Lys127Glu) c.247A>G (p.Lys83Glu) n.983A>G | |
1 | g.1804470T>G | CA337914564 | GNB1 | c.340A>C (p.Lys114Gln) c.79A>C (p.Lys27Gln) c.379A>C (p.Lys127Gln) c.247A>C (p.Lys83Gln) n.983A>C | |
1 | g.1804471C>A | CA415404135 | GNB1 | c.339G>T (p.Leu113=) c.78G>T (p.Leu26=) c.378G>T (p.Leu126=) c.246G>T (p.Leu82=) n.982G>T | |
1 | g.1804471C= | CA1149323347 | GNB1 | c.339G= (p.Leu113=) c.78G= (p.Leu26=) c.378G= (p.Leu126=) c.246G= (p.Leu82=) n.982G= | |
1 | g.1804471C>G | CA415404134 | GNB1 | c.339G>C (p.Leu113=) c.78G>C (p.Leu26=) c.378G>C (p.Leu126=) c.246G>C (p.Leu82=) n.982G>C | |
1 | g.1804471C>T | CA16827544 | GNB1 | c.339G>A (p.Leu113=) c.78G>A (p.Leu26=) c.378G>A (p.Leu126=) c.246G>A (p.Leu82=) n.982G>A | dbSNP |
1 | g.1804472A= | CA1149323348 | GNB1 | c.338T= (p.Leu113=) c.77T= (p.Leu26=) c.377T= (p.Leu126=) c.245T= (p.Leu82=) n.981T= | |
1 | g.1804472A>C | CA337914567 | GNB1 | c.338T>G (p.Leu113Arg) c.77T>G (p.Leu26Arg) c.377T>G (p.Leu126Arg) c.245T>G (p.Leu82Arg) n.981T>G | |
1 | g.1804472A>G | CA337914570 | GNB1 | c.338T>C (p.Leu113Pro) c.77T>C (p.Leu26Pro) c.377T>C (p.Leu126Pro) c.245T>C (p.Leu82Pro) n.981T>C | |
1 | g.1804472A>T | CA16827545 | GNB1 | c.338T>A (p.Leu113Gln) c.77T>A (p.Leu26Gln) c.377T>A (p.Leu126Gln) c.245T>A (p.Leu82Gln) n.981T>A | dbSNP |
1 | g.1804473G>A | CA415404136 | GNB1 | c.337C>T (p.Leu113=) c.76C>T (p.Leu26=) c.376C>T (p.Leu126=) c.244C>T (p.Leu82=) n.980C>T | |
1 | g.1804473G>C | CA337914577 | GNB1 | c.337C>G (p.Leu113Val) c.76C>G (p.Leu26Val) c.376C>G (p.Leu126Val) c.244C>G (p.Leu82Val) n.980C>G | dbSNP |
1 | g.1804473G= | CA1149323349 | GNB1 | c.337C= (p.Leu113=) c.76C= (p.Leu26=) c.376C= (p.Leu126=) c.244C= (p.Leu82=) n.980C= | |
1 | g.1804473G>T | CA337914584 | GNB1 | c.337C>A (p.Leu113Met) c.76C>A (p.Leu26Met) c.376C>A (p.Leu126Met) c.244C>A (p.Leu82Met) n.980C>A | |
1 | g.1804474A>C | CA337914590 | GNB1 | c.336T>G (p.Asn112Lys) c.75T>G (p.Asn25Lys) c.375T>G (p.Asn125Lys) c.243T>G (p.Asn81Lys) n.979T>G | |
1 | g.1804474A>G | CA415404137 | GNB1 | c.336T>C (p.Asn112=) c.75T>C (p.Asn25=) c.375T>C (p.Asn125=) c.243T>C (p.Asn81=) n.979T>C | |
1 | g.1804474A>T | CA337914593 | GNB1 | c.336T>A (p.Asn112Lys) c.75T>A (p.Asn25Lys) c.375T>A (p.Asn125Lys) c.243T>A (p.Asn81Lys) n.979T>A | |
1 | g.1804475T>A | CA337914601 | GNB1 | c.335A>T (p.Asn112Ile) c.74A>T (p.Asn25Ile) c.374A>T (p.Asn125Ile) c.242A>T (p.Asn81Ile) n.978A>T | dbSNP |
1 | g.1804475T>C | CA532045 | GNB1 | c.335A>G (p.Asn112Ser) c.74A>G (p.Asn25Ser) c.374A>G (p.Asn125Ser) c.242A>G (p.Asn81Ser) n.978A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1804475T>G | CA337914605 | GNB1 | c.335A>C (p.Asn112Thr) c.74A>C (p.Asn25Thr) c.374A>C (p.Asn125Thr) c.242A>C (p.Asn81Thr) n.978A>C | |
1 | g.1804475T= | CA1142375769 | GNB1 | c.335A= (p.Asn112=) c.74A= (p.Asn25=) c.374A= (p.Asn125=) c.242A= (p.Asn81=) n.978A= | |
1 | g.1804476T>A | CA337914613 | GNB1 | c.334A>T (p.Asn112Tyr) c.73A>T (p.Asn25Tyr) c.373A>T (p.Asn125Tyr) c.241A>T (p.Asn81Tyr) n.977A>T | |
1 | g.1804476T>C | CA337914619 | GNB1 | c.334A>G (p.Asn112Asp) c.73A>G (p.Asn25Asp) c.373A>G (p.Asn125Asp) c.241A>G (p.Asn81Asp) n.977A>G | |
1 | g.1804476T>G | CA337914616 | GNB1 | c.334A>C (p.Asn112His) c.73A>C (p.Asn25His) c.373A>C (p.Asn125His) c.241A>C (p.Asn81His) n.977A>C | |
1 | g.1804477G>A | CA415404138 | GNB1 | c.333C>T (p.Tyr111=) c.72C>T (p.Tyr24=) c.372C>T (p.Tyr124=) c.240C>T (p.Tyr80=) n.976C>T | |
1 | g.1804477G>C | CA337914620 | GNB1 | c.333C>G (p.Tyr111Ter) c.72C>G (p.Tyr24Ter) c.372C>G (p.Tyr124Ter) c.240C>G (p.Tyr80Ter) n.976C>G | |
1 | g.1804477G>T | CA337914621 | GNB1 | c.333C>A (p.Tyr111Ter) c.72C>A (p.Tyr24Ter) c.372C>A (p.Tyr124Ter) c.240C>A (p.Tyr80Ter) n.976C>A | |
1 | g.1804478T>A | CA337914623 | GNB1 | c.332A>T (p.Tyr111Phe) c.71A>T (p.Tyr24Phe) c.371A>T (p.Tyr124Phe) c.239A>T (p.Tyr80Phe) n.975A>T | |
1 | g.1804478T>C | CA337914625 | GNB1 | c.332A>G (p.Tyr111Cys) c.71A>G (p.Tyr24Cys) c.371A>G (p.Tyr124Cys) c.239A>G (p.Tyr80Cys) n.975A>G | |
1 | g.1804478T>G | CA337914628 | GNB1 | c.332A>C (p.Tyr111Ser) c.71A>C (p.Tyr24Ser) c.371A>C (p.Tyr124Ser) c.239A>C (p.Tyr80Ser) n.975A>C | |
1 | g.1804479A>C | CA337914631 | GNB1 | c.331T>G (p.Tyr111Asp) c.70T>G (p.Tyr24Asp) c.370T>G (p.Tyr124Asp) c.238T>G (p.Tyr80Asp) n.974T>G | |
1 | g.1804479A>G | CA337914639 | GNB1 | c.331T>C (p.Tyr111His) c.70T>C (p.Tyr24His) c.370T>C (p.Tyr124His) c.238T>C (p.Tyr80His) n.974T>C | |
1 | g.1804479A>T | CA337914642 | GNB1 | c.331T>A (p.Tyr111Asn) c.70T>A (p.Tyr24Asn) c.370T>A (p.Tyr124Asn) c.238T>A (p.Tyr80Asn) n.974T>A | |
1 | g.1804480A>C | CA337914645 | GNB1 | c.330T>G (p.Ile110Met) c.69T>G (p.Ile23Met) c.369T>G (p.Ile123Met) c.237T>G (p.Ile79Met) n.973T>G | |
1 | g.1804480A>G | CA415404139 | GNB1 | c.330T>C (p.Ile110=) c.69T>C (p.Ile23=) c.369T>C (p.Ile123=) c.237T>C (p.Ile79=) n.973T>C | |
1 | g.1804480A>T | CA415404140 | GNB1 | c.330T>A (p.Ile110=) c.69T>A (p.Ile23=) c.369T>A (p.Ile123=) c.237T>A (p.Ile79=) n.973T>A | |
1 | g.1804481A>C | CA337914650 | GNB1 | c.329T>G (p.Ile110Ser) c.68T>G (p.Ile23Ser) c.368T>G (p.Ile123Ser) c.236T>G (p.Ile79Ser) n.972T>G | |
1 | g.1804481A>G | CA337914654 | GNB1 | c.329T>C (p.Ile110Thr) c.68T>C (p.Ile23Thr) c.368T>C (p.Ile123Thr) c.236T>C (p.Ile79Thr) n.972T>C | gnomAD v4 |
1 | g.1804481A>T | CA337914656 | GNB1 | c.329T>A (p.Ile110Asn) c.68T>A (p.Ile23Asn) c.368T>A (p.Ile123Asn) c.236T>A (p.Ile79Asn) n.972T>A | |
1 | g.1804482T>A | CA337914660 | GNB1 | c.328A>T (p.Ile110Phe) c.67A>T (p.Ile23Phe) c.367A>T (p.Ile123Phe) c.235A>T (p.Ile79Phe) n.971A>T | |
1 | g.1804482T>C | CA337914661 | GNB1 | c.328A>G (p.Ile110Val) c.67A>G (p.Ile23Val) c.367A>G (p.Ile123Val) c.235A>G (p.Ile79Val) n.971A>G | gnomAD v4 |
1 | g.1804482T>G | CA337914662 | GNB1 | c.328A>C (p.Ile110Leu) c.67A>C (p.Ile23Leu) c.367A>C (p.Ile123Leu) c.235A>C (p.Ile79Leu) n.971A>C | |
1 | g.1804483G>A | CA415404141 | GNB1 | c.327C>T (p.Ser109=) c.66C>T (p.Ser22=) c.366C>T (p.Ser122=) c.234C>T (p.Ser78=) n.970C>T | ClinVar gnomAD v4 |
1 | g.1804483G>C | CA415404143 | GNB1 | c.327C>G (p.Ser109=) c.66C>G (p.Ser22=) c.366C>G (p.Ser122=) c.234C>G (p.Ser78=) n.970C>G | |
1 | g.1804483G>T | CA415404142 | GNB1 | c.327C>A (p.Ser109=) c.66C>A (p.Ser22=) c.366C>A (p.Ser122=) c.234C>A (p.Ser78=) n.970C>A | |
1 | g.1804484G>A | CA337914663 | GNB1 | c.326C>T (p.Ser109Phe) c.65C>T (p.Ser22Phe) c.365C>T (p.Ser122Phe) c.233C>T (p.Ser78Phe) n.969C>T | COSMIC |
1 | g.1804484G>C | CA337914670 | GNB1 | c.326C>G (p.Ser109Cys) c.65C>G (p.Ser22Cys) c.365C>G (p.Ser122Cys) c.233C>G (p.Ser78Cys) n.969C>G | |
1 | g.1804484G>T | CA337914666 | GNB1 | c.326C>A (p.Ser109Tyr) c.65C>A (p.Ser22Tyr) c.365C>A (p.Ser122Tyr) c.233C>A (p.Ser78Tyr) n.969C>A | |
1 | g.1804485A>C | CA337914684 | GNB1 | c.325T>G (p.Ser109Ala) c.64T>G (p.Ser22Ala) c.364T>G (p.Ser122Ala) c.232T>G (p.Ser78Ala) n.968T>G | |
1 | g.1804485A>G | CA337914687 | GNB1 | c.325T>C (p.Ser109Pro) c.64T>C (p.Ser22Pro) c.364T>C (p.Ser122Pro) c.232T>C (p.Ser78Pro) n.968T>C | |
1 | g.1804485A>T | CA337914690 | GNB1 | c.325T>A (p.Ser109Thr) c.64T>A (p.Ser22Thr) c.364T>A (p.Ser122Thr) c.232T>A (p.Ser78Thr) n.968T>A | |
1 | g.1804486G>A | CA16827548 | GNB1 | c.324C>T (p.Cys108=) c.63C>T (p.Cys21=) c.363C>T (p.Cys121=) c.231C>T (p.Cys77=) n.967C>T | dbSNP gnomAD v4 |
1 | g.1804486G>C | CA337914695 | GNB1 | c.324C>G (p.Cys108Trp) c.63C>G (p.Cys21Trp) c.363C>G (p.Cys121Trp) c.231C>G (p.Cys77Trp) n.967C>G | |
1 | g.1804486G= | CA1143633503 | GNB1 | c.324C= (p.Cys108=) c.63C= (p.Cys21=) c.363C= (p.Cys121=) c.231C= (p.Cys77=) n.967C= | |
1 | g.1804486G>T | CA337914697 | GNB1 | c.324C>A (p.Cys108Ter) c.63C>A (p.Cys21Ter) c.363C>A (p.Cys121Ter) c.231C>A (p.Cys77Ter) n.967C>A | |
1 | g.1804487C>A | CA337914701 | GNB1 | c.323G>T (p.Cys108Phe) c.62G>T (p.Cys21Phe) c.362G>T (p.Cys121Phe) c.230G>T (p.Cys77Phe) n.966G>T | |
1 | g.1804487C>G | CA337914703 | GNB1 | c.323G>C (p.Cys108Ser) c.62G>C (p.Cys21Ser) c.362G>C (p.Cys121Ser) c.230G>C (p.Cys77Ser) n.966G>C | |
1 | g.1804487C>T | CA337914706 | GNB1 | c.323G>A (p.Cys108Tyr) c.62G>A (p.Cys21Tyr) c.362G>A (p.Cys121Tyr) c.230G>A (p.Cys77Tyr) n.966G>A | |
1 | g.1804488A>C | CA337914715 | GNB1 | c.322T>G (p.Cys108Gly) c.61T>G (p.Cys21Gly) c.361T>G (p.Cys121Gly) c.229T>G (p.Cys77Gly) n.965T>G | |
1 | g.1804488A>G | CA337914711 | GNB1 | c.322T>C (p.Cys108Arg) c.61T>C (p.Cys21Arg) c.361T>C (p.Cys121Arg) c.229T>C (p.Cys77Arg) n.965T>C | |
1 | g.1804488A>T | CA337914709 | GNB1 | c.322T>A (p.Cys108Ser) c.61T>A (p.Cys21Ser) c.361T>A (p.Cys121Ser) c.229T>A (p.Cys77Ser) n.965T>A | |
1 | g.1804489A>C | CA337914721 | GNB1 | c.321T>G (p.Ile107Met) c.60T>G (p.Ile20Met) c.360T>G (p.Ile120Met) c.228T>G (p.Ile76Met) n.964T>G | |
1 | g.1804489A>G | CA415404144 | GNB1 | c.321T>C (p.Ile107=) c.60T>C (p.Ile20=) c.360T>C (p.Ile120=) c.228T>C (p.Ile76=) n.964T>C | |
1 | g.1804489A>T | CA415404145 | GNB1 | c.321T>A (p.Ile107=) c.60T>A (p.Ile20=) c.360T>A (p.Ile120=) c.228T>A (p.Ile76=) n.964T>A | |
1 | g.1804490A>C | CA337914728 | GNB1 | c.320T>G (p.Ile107Ser) c.59T>G (p.Ile20Ser) c.359T>G (p.Ile120Ser) c.227T>G (p.Ile76Ser) n.963T>G | |
1 | g.1804490A>G | CA337914731 | GNB1 | c.320T>C (p.Ile107Thr) c.59T>C (p.Ile20Thr) c.359T>C (p.Ile120Thr) c.227T>C (p.Ile76Thr) n.963T>C | |
1 | g.1804490A>T | CA337914735 | GNB1 | c.320T>A (p.Ile107Asn) c.59T>A (p.Ile20Asn) c.359T>A (p.Ile120Asn) c.227T>A (p.Ile76Asn) n.963T>A | |
1 | g.1804491T>A | CA337914738 | GNB1 | c.319A>T (p.Ile107Phe) c.58A>T (p.Ile20Phe) c.358A>T (p.Ile120Phe) c.226A>T (p.Ile76Phe) n.962A>T | |
1 | g.1804491T>C | CA337914742 | GNB1 | c.319A>G (p.Ile107Val) c.58A>G (p.Ile20Val) c.358A>G (p.Ile120Val) c.226A>G (p.Ile76Val) n.962A>G | |
1 | g.1804491T>G | CA337914747 | GNB1 | c.319A>C (p.Ile107Leu) c.58A>C (p.Ile20Leu) c.358A>C (p.Ile120Leu) c.226A>C (p.Ile76Leu) n.962A>C | |
1 | g.1804492G>A | CA415404146 | GNB1 | c.318C>T (p.Asn106=) c.57C>T (p.Asn19=) c.357C>T (p.Asn119=) c.225C>T (p.Asn75=) n.961C>T | dbSNP gnomAD v4 |
1 | g.1804492G>C | CA337914750 | GNB1 | c.318C>G (p.Asn106Lys) c.57C>G (p.Asn19Lys) c.357C>G (p.Asn119Lys) c.225C>G (p.Asn75Lys) n.961C>G | |
1 | g.1804492G= | CA1149323350 | GNB1 | c.318C= (p.Asn106=) c.57C= (p.Asn19=) c.357C= (p.Asn119=) c.225C= (p.Asn75=) n.961C= | |
1 | g.1804492G>T | CA337914752 | GNB1 | c.318C>A (p.Asn106Lys) c.57C>A (p.Asn19Lys) c.357C>A (p.Asn119Lys) c.225C>A (p.Asn75Lys) n.961C>A | |
1 | g.1804493T>A | CA337914755 | GNB1 | c.317A>T (p.Asn106Ile) c.56A>T (p.Asn19Ile) c.356A>T (p.Asn119Ile) c.224A>T (p.Asn75Ile) n.960A>T | |
1 | g.1804493T>C | CA337914756 | GNB1 | c.317A>G (p.Asn106Ser) c.56A>G (p.Asn19Ser) c.356A>G (p.Asn119Ser) c.224A>G (p.Asn75Ser) n.960A>G | |
1 | g.1804493T>G | CA337914762 | GNB1 | c.317A>C (p.Asn106Thr) c.56A>C (p.Asn19Thr) c.356A>C (p.Asn119Thr) c.224A>C (p.Asn75Thr) n.960A>C | |
1 | g.1804494T>A | CA337914772 | GNB1 | c.316A>T (p.Asn106Tyr) c.55A>T (p.Asn19Tyr) c.355A>T (p.Asn119Tyr) c.223A>T (p.Asn75Tyr) n.959A>T | |
1 | g.1804494T>C | CA337914766 | GNB1 | c.316A>G (p.Asn106Asp) c.55A>G (p.Asn19Asp) c.355A>G (p.Asn119Asp) c.223A>G (p.Asn75Asp) n.959A>G | |
1 | g.1804494T>G | CA337914769 | GNB1 | c.316A>C (p.Asn106His) c.55A>C (p.Asn19His) c.355A>C (p.Asn119His) c.223A>C (p.Asn75His) n.959A>C | |
1 | g.1804495A= | CA1149323351 | GNB1 | c.315T= (p.Asp105=) c.54T= (p.Asp18=) c.354T= (p.Asp118=) c.222T= (p.Asp74=) n.958T= | |
1 | g.1804495A>C | CA337914773 | GNB1 | c.315T>G (p.Asp105Glu) c.54T>G (p.Asp18Glu) c.354T>G (p.Asp118Glu) c.222T>G (p.Asp74Glu) n.958T>G | |
1 | g.1804495A>G | CA415404147 | GNB1 | c.315T>C (p.Asp105=) c.54T>C (p.Asp18=) c.354T>C (p.Asp118=) c.222T>C (p.Asp74=) n.958T>C | dbSNP |
1 | g.1804495A>T | CA337914774 | GNB1 | c.315T>A (p.Asp105Glu) c.54T>A (p.Asp18Glu) c.354T>A (p.Asp118Glu) c.222T>A (p.Asp74Glu) n.958T>A | |
1 | g.1804496T>A | CA337914775 | GNB1 | c.314A>T (p.Asp105Val) c.53A>T (p.Asp18Val) c.353A>T (p.Asp118Val) c.221A>T (p.Asp74Val) n.957A>T | gnomAD v4 |
1 | g.1804496T>C | CA337914777 | GNB1 | c.314A>G (p.Asp105Gly) c.53A>G (p.Asp18Gly) c.353A>G (p.Asp118Gly) c.221A>G (p.Asp74Gly) n.957A>G | ClinVar dbSNP gnomAD v4 |
1 | g.1804496T>G | CA337914779 | GNB1 | c.314A>C (p.Asp105Ala) c.53A>C (p.Asp18Ala) c.353A>C (p.Asp118Ala) c.221A>C (p.Asp74Ala) n.957A>C | |
1 | g.1804496T= | CA1149323352 | GNB1 | c.314A= (p.Asp105=) c.53A= (p.Asp18=) c.353A= (p.Asp118=) c.221A= (p.Asp74=) n.957A= | |
1 | g.1804497C>A | CA337914782 | GNB1 | c.313G>T (p.Asp105Tyr) c.52G>T (p.Asp18Tyr) c.352G>T (p.Asp118Tyr) c.220G>T (p.Asp74Tyr) n.956G>T | ClinVar dbSNP COSMIC |
1 | g.1804497C= | CA1149323353 | GNB1 | c.313G= (p.Asp105=) c.52G= (p.Asp18=) c.352G= (p.Asp118=) c.220G= (p.Asp74=) n.956G= | |
1 | g.1804497C>G | CA337914785 | GNB1 | c.313G>C (p.Asp105His) c.52G>C (p.Asp18His) c.352G>C (p.Asp118His) c.220G>C (p.Asp74His) n.956G>C | |
1 | g.1804497C>T | CA337914789 | GNB1 | c.313G>A (p.Asp105Asn) c.52G>A (p.Asp18Asn) c.352G>A (p.Asp118Asn) c.220G>A (p.Asp74Asn) n.956G>A | |
1 | g.1804498C>A | CA415404148 | GNB1 | c.312G>T (p.Leu104=) c.51G>T (p.Leu17=) c.351G>T (p.Leu117=) c.219G>T (p.Leu73=) n.955G>T | |
1 | g.1804498C>G | CA415404149 | GNB1 | c.312G>C (p.Leu104=) c.51G>C (p.Leu17=) c.351G>C (p.Leu117=) c.219G>C (p.Leu73=) n.955G>C | |
1 | g.1804498C>T | CA415404150 | GNB1 | c.312G>A (p.Leu104=) c.51G>A (p.Leu17=) c.351G>A (p.Leu117=) c.219G>A (p.Leu73=) n.955G>A | |
1 | g.1804499A>C | CA337914792 | GNB1 | c.311T>G (p.Leu104Arg) c.50T>G (p.Leu17Arg) c.350T>G (p.Leu117Arg) c.218T>G (p.Leu73Arg) n.954T>G | |
1 | g.1804499A>G | CA337914795 | GNB1 | c.311T>C (p.Leu104Pro) c.50T>C (p.Leu17Pro) c.350T>C (p.Leu117Pro) c.218T>C (p.Leu73Pro) n.954T>C | |
1 | g.1804499A>T | CA337914798 | GNB1 | c.311T>A (p.Leu104Gln) c.50T>A (p.Leu17Gln) c.350T>A (p.Leu117Gln) c.218T>A (p.Leu73Gln) n.954T>A | |
1 | g.1804500G>A | CA415404151 | GNB1 | c.310C>T (p.Leu104=) c.49C>T (p.Leu17=) c.349C>T (p.Leu117=) c.217C>T (p.Leu73=) n.953C>T | |
1 | g.1804500G>C | CA337914804 | GNB1 | c.310C>G (p.Leu104Val) c.49C>G (p.Leu17Val) c.349C>G (p.Leu117Val) c.217C>G (p.Leu73Val) n.953C>G | |
1 | g.1804500G>T | CA337914802 | GNB1 | c.310C>A (p.Leu104Met) c.49C>A (p.Leu17Met) c.349C>A (p.Leu117Met) c.217C>A (p.Leu73Met) n.953C>A | |
1 | g.1804501G>A | CA415404152 | GNB1 | c.309C>T (p.Gly103=) c.48C>T (p.Gly16=) c.348C>T (p.Gly116=) c.216C>T (p.Gly72=) n.952C>T | |
1 | g.1804501G>C | CA415404153 | GNB1 | c.309C>G (p.Gly103=) c.48C>G (p.Gly16=) c.348C>G (p.Gly116=) c.216C>G (p.Gly72=) n.952C>G | |
1 | g.1804501G>T | CA415404154 | GNB1 | c.309C>A (p.Gly103=) c.48C>A (p.Gly16=) c.348C>A (p.Gly116=) c.216C>A (p.Gly72=) n.952C>A | |
1 | g.1804502C>A | CA337914809 | GNB1 | c.308G>T (p.Gly103Val) c.47G>T (p.Gly16Val) c.347G>T (p.Gly116Val) c.215G>T (p.Gly72Val) n.951G>T | ClinVar dbSNP |
1 | g.1804502C= | CA1149323354 | GNB1 | c.308G= (p.Gly103=) c.47G= (p.Gly16=) c.347G= (p.Gly116=) c.215G= (p.Gly72=) n.951G= | |
1 | g.1804502C>G | CA337914826 | GNB1 | c.308G>C (p.Gly103Ala) c.47G>C (p.Gly16Ala) c.347G>C (p.Gly116Ala) c.215G>C (p.Gly72Ala) n.951G>C | |
1 | g.1804502C>T | CA337914812 | GNB1 | c.308G>A (p.Gly103Asp) c.47G>A (p.Gly16Asp) c.347G>A (p.Gly116Asp) c.215G>A (p.Gly72Asp) n.951G>A | ClinVar dbSNP gnomAD v4 |
1 | g.1804503C>A | CA337914833 | GNB1 | c.307G>T (p.Gly103Cys) c.46G>T (p.Gly16Cys) c.346G>T (p.Gly116Cys) c.214G>T (p.Gly72Cys) n.950G>T | |
1 | g.1804503C= | CA1149323355 | GNB1 | c.307G= (p.Gly103=) c.46G= (p.Gly16=) c.346G= (p.Gly116=) c.214G= (p.Gly72=) n.950G= | |
1 | g.1804503C>G | CA337914848 | GNB1 | c.307G>C (p.Gly103Arg) c.46G>C (p.Gly16Arg) c.346G>C (p.Gly116Arg) c.214G>C (p.Gly72Arg) n.950G>C | |
1 | g.1804503C>T | CA337914852 | GNB1 | c.307G>A (p.Gly103Ser) c.46G>A (p.Gly16Ser) c.346G>A (p.Gly116Ser) c.214G>A (p.Gly72Ser) n.950G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.1804504A>C | CA415404155 | GNB1 | c.306T>G (p.Gly102=) c.45T>G (p.Gly15=) c.345T>G (p.Gly115=) c.213T>G (p.Gly71=) n.949T>G | |
1 | g.1804504A>G | CA415404156 | GNB1 | c.306T>C (p.Gly102=) c.45T>C (p.Gly15=) c.345T>C (p.Gly115=) c.213T>C (p.Gly71=) n.949T>C | |
1 | g.1804504A>T | CA415404157 | GNB1 | c.306T>A (p.Gly102=) c.45T>A (p.Gly15=) c.345T>A (p.Gly115=) c.213T>A (p.Gly71=) n.949T>A | |
1 | g.1804505C>A | CA337914857 | GNB1 | c.305G>T (p.Gly102Val) c.44G>T (p.Gly15Val) c.344G>T (p.Gly115Val) c.212G>T (p.Gly71Val) n.948G>T | |
1 | g.1804505C>G | CA337914862 | GNB1 | c.305G>C (p.Gly102Ala) c.44G>C (p.Gly15Ala) c.344G>C (p.Gly115Ala) c.212G>C (p.Gly71Ala) n.948G>C | |
1 | g.1804505C>T | CA337914864 | GNB1 | c.305G>A (p.Gly102Asp) c.44G>A (p.Gly15Asp) c.344G>A (p.Gly115Asp) c.212G>A (p.Gly71Asp) n.948G>A |