Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97450029_97450037delCA2646705570DPYDc.1905+24_1905+32del (n.1905+24_1905+32del)
c.1689+24_1689+32del (n.1689+24_1689+32del)
c.1794+24_1794+32del (n.1794+24_1794+32del)
c.1410+24_1410+32del (n.1410+24_1410+32del)
gnomAD v4
1g.97450031_97450033delinsCTTCA1182873418DPYDc.1905+26_1905+28delinsAAG (n.1905+26_1905+28delinsAAG)
c.1689+26_1689+28delinsAAG (n.1689+26_1689+28delinsAAG)
c.1794+26_1794+28delinsAAG (n.1794+26_1794+28delinsAAG)
c.1410+26_1410+28delinsAAG (n.1410+26_1410+28delinsAAG)
1g.97450032_97450033delCA419145321DPYDc.1905+26_1905+27del (n.1905+26_1905+27del)
c.1689+26_1689+27del (n.1689+26_1689+27del)
c.1794+26_1794+27del (n.1794+26_1794+27del)
c.1410+26_1410+27del (n.1410+26_1410+27del)
dbSNP gnomAD v3 gnomAD v4
1g.97450034_97450035delCA341375893DPYDc.1905+25_1905+26del (n.1905+25_1905+26del)
c.1689+25_1689+26del (n.1689+25_1689+26del)
c.1794+25_1794+26del (n.1794+25_1794+26del)
c.1410+25_1410+26del (n.1410+25_1410+26del)
1g.97450034G>ACA1182873420DPYDc.1905+25C>T (n.1905+25C>T)
c.1689+25C>T (n.1689+25C>T)
c.1794+25C>T (n.1794+25C>T)
c.1410+25C>T (n.1410+25C>T)
dbSNP
1g.97450034G=CA1182873419DPYDc.1905+25C= (n.1905+25C=)
c.1689+25C= (n.1689+25C=)
c.1794+25C= (n.1794+25C=)
c.1410+25C= (n.1410+25C=)
1g.97450035T>ACA2696715096DPYDc.1905+24A>T (n.1905+24A>T)
c.1689+24A>T (n.1689+24A>T)
c.1794+24A>T (n.1794+24A>T)
c.1410+24A>T (n.1410+24A>T)
dbSNP
1g.97450038T>CCA2574442212DPYDc.1905+21A>G (n.1905+21A>G)
c.1689+21A>G (n.1689+21A>G)
c.1794+21A>G (n.1794+21A>G)
c.1410+21A>G (n.1410+21A>G)
gnomAD v4
1g.97450039delCA2696715127DPYDc.1905+20del (n.1905+20del)
c.1689+20del (n.1689+20del)
c.1794+20del (n.1794+20del)
c.1410+20del (n.1410+20del)
dbSNP
1g.97450039A>GCA2646705572DPYDc.1905+20T>C (n.1905+20T>C)
c.1689+20T>C (n.1689+20T>C)
c.1794+20T>C (n.1794+20T>C)
c.1410+20T>C (n.1410+20T>C)
gnomAD v4
1g.97450039A>TCA2696715103DPYDc.1905+20T>A (n.1905+20T>A)
c.1689+20T>A (n.1689+20T>A)
c.1794+20T>A (n.1794+20T>A)
c.1410+20T>A (n.1410+20T>A)
dbSNP
1g.97450040G>ACA2696427838DPYDc.1905+19C>T (n.1905+19C>T)
c.1689+19C>T (n.1689+19C>T)
c.1794+19C>T (n.1794+19C>T)
c.1410+19C>T (n.1410+19C>T)
dbSNP
1g.97450040G>CCA2696427839DPYDc.1905+19C>G (n.1905+19C>G)
c.1689+19C>G (n.1689+19C>G)
c.1794+19C>G (n.1794+19C>G)
c.1410+19C>G (n.1410+19C>G)
dbSNP
1g.97450040G=CA1140999017DPYDc.1905+19C= (n.1905+19C=)
c.1689+19C= (n.1689+19C=)
c.1794+19C= (n.1794+19C=)
c.1410+19C= (n.1410+19C=)
1g.97450040G>TCA963207DPYDc.1905+19C>A (n.1905+19C>A)
c.1689+19C>A (n.1689+19C>A)
c.1794+19C>A (n.1794+19C>A)
c.1410+19C>A (n.1410+19C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450041A>GCA2574442213DPYDc.1905+18T>C (n.1905+18T>C)
c.1689+18T>C (n.1689+18T>C)
c.1794+18T>C (n.1794+18T>C)
c.1410+18T>C (n.1410+18T>C)
gnomAD v4
1g.97450041A>TCA2696715129DPYDc.1905+18T>A (n.1905+18T>A)
c.1689+18T>A (n.1689+18T>A)
c.1794+18T>A (n.1794+18T>A)
c.1410+18T>A (n.1410+18T>A)
dbSNP
1g.97450042T>ACA2646705573DPYDc.1905+17A>T (n.1905+17A>T)
c.1689+17A>T (n.1689+17A>T)
c.1794+17A>T (n.1794+17A>T)
c.1410+17A>T (n.1410+17A>T)
dbSNP gnomAD v4
1g.97450042T>CCA963208DPYDc.1905+17A>G (n.1905+17A>G)
c.1689+17A>G (n.1689+17A>G)
c.1794+17A>G (n.1794+17A>G)
c.1410+17A>G (n.1410+17A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450042T=CA1143700089DPYDc.1905+17A= (n.1905+17A=)
c.1689+17A= (n.1689+17A=)
c.1794+17A= (n.1794+17A=)
c.1410+17A= (n.1410+17A=)
1g.97450043G>ACA740808687DPYDc.1905+16C>T (n.1905+16C>T)
c.1689+16C>T (n.1689+16C>T)
c.1794+16C>T (n.1794+16C>T)
c.1410+16C>T (n.1410+16C>T)
dbSNP gnomAD v4
1g.97450043G>CCA2696457965DPYDc.1905+16C>G (n.1905+16C>G)
c.1689+16C>G (n.1689+16C>G)
c.1794+16C>G (n.1794+16C>G)
c.1410+16C>G (n.1410+16C>G)
dbSNP
1g.97450043G=CA1182873421DPYDc.1905+16C= (n.1905+16C=)
c.1689+16C= (n.1689+16C=)
c.1794+16C= (n.1794+16C=)
c.1410+16C= (n.1410+16C=)
1g.97450044T>ACA2696715133DPYDc.1905+15A>T (n.1905+15A>T)
c.1689+15A>T (n.1689+15A>T)
c.1794+15A>T (n.1794+15A>T)
c.1410+15A>T (n.1410+15A>T)
dbSNP
1g.97450044T>GCA2696715130DPYDc.1905+15A>C (n.1905+15A>C)
c.1689+15A>C (n.1689+15A>C)
c.1794+15A>C (n.1794+15A>C)
c.1410+15A>C (n.1410+15A>C)
dbSNP
1g.97450045T>ACA2696488061DPYDc.1905+14A>T (n.1905+14A>T)
c.1689+14A>T (n.1689+14A>T)
c.1794+14A>T (n.1794+14A>T)
c.1410+14A>T (n.1410+14A>T)
dbSNP
1g.97450045T>CCA2696488059DPYDc.1905+14A>G (n.1905+14A>G)
c.1689+14A>G (n.1689+14A>G)
c.1794+14A>G (n.1794+14A>G)
c.1410+14A>G (n.1410+14A>G)
dbSNP
1g.97450045T>GCA1182873423DPYDc.1905+14A>C (n.1905+14A>C)
c.1689+14A>C (n.1689+14A>C)
c.1794+14A>C (n.1794+14A>C)
c.1410+14A>C (n.1410+14A>C)
dbSNP
1g.97450045T=CA1182873422DPYDc.1905+14A= (n.1905+14A=)
c.1689+14A= (n.1689+14A=)
c.1794+14A= (n.1794+14A=)
c.1410+14A= (n.1410+14A=)
1g.97450046A>TCA2696715135DPYDc.1905+13T>A (n.1905+13T>A)
c.1689+13T>A (n.1689+13T>A)
c.1794+13T>A (n.1794+13T>A)
c.1410+13T>A (n.1410+13T>A)
dbSNP
1g.97450047A>TCA2696715340DPYDc.1905+12T>A (n.1905+12T>A)
c.1689+12T>A (n.1689+12T>A)
c.1794+12T>A (n.1794+12T>A)
c.1410+12T>A (n.1410+12T>A)
dbSNP
1g.97450048A>GCA2696715381DPYDc.1905+11T>C (n.1905+11T>C)
c.1689+11T>C (n.1689+11T>C)
c.1794+11T>C (n.1794+11T>C)
c.1410+11T>C (n.1410+11T>C)
dbSNP
1g.97450048A>TCA2696715722DPYDc.1905+11T>A (n.1905+11T>A)
c.1689+11T>A (n.1689+11T>A)
c.1794+11T>A (n.1794+11T>A)
c.1410+11T>A (n.1410+11T>A)
dbSNP
1g.97450049T>ACA2696488062DPYDc.1905+10A>T (n.1905+10A>T)
c.1689+10A>T (n.1689+10A>T)
c.1794+10A>T (n.1794+10A>T)
c.1410+10A>T (n.1410+10A>T)
dbSNP
1g.97450049T>CCA1004766005DPYDc.1905+10A>G (n.1905+10A>G)
c.1689+10A>G (n.1689+10A>G)
c.1794+10A>G (n.1794+10A>G)
c.1410+10A>G (n.1410+10A>G)
dbSNP gnomAD v3 gnomAD v4
1g.97450049T=CA1182873424DPYDc.1905+10A= (n.1905+10A=)
c.1689+10A= (n.1689+10A=)
c.1794+10A= (n.1794+10A=)
c.1410+10A= (n.1410+10A=)
1g.97450050C>ACA1004766006DPYDc.1905+9G>T (n.1905+9G>T)
c.1689+9G>T (n.1689+9G>T)
c.1794+9G>T (n.1794+9G>T)
c.1410+9G>T (n.1410+9G>T)
dbSNP gnomAD v3 gnomAD v4
1g.97450050C=CA1182873425DPYDc.1905+9G= (n.1905+9G=)
c.1689+9G= (n.1689+9G=)
c.1794+9G= (n.1794+9G=)
c.1410+9G= (n.1410+9G=)
1g.97450050C>GCA2696488063DPYDc.1905+9G>C (n.1905+9G>C)
c.1689+9G>C (n.1689+9G>C)
c.1794+9G>C (n.1794+9G>C)
c.1410+9G>C (n.1410+9G>C)
dbSNP
1g.97450050C>TCA2696488064DPYDc.1905+9G>A (n.1905+9G>A)
c.1689+9G>A (n.1689+9G>A)
c.1794+9G>A (n.1794+9G>A)
c.1410+9G>A (n.1410+9G>A)
dbSNP
1g.97450053_97450054delCA2646705574DPYDc.1905+8_1905+9del (n.1905+8_1905+9del)
c.1689+8_1689+9del (n.1689+8_1689+9del)
c.1794+8_1794+9del (n.1794+8_1794+9del)
c.1410+8_1410+9del (n.1410+8_1410+9del)
gnomAD v4
1g.97450051A>GCA2646705575DPYDc.1905+8T>C (n.1905+8T>C)
c.1689+8T>C (n.1689+8T>C)
c.1794+8T>C (n.1794+8T>C)
c.1410+8T>C (n.1410+8T>C)
gnomAD v4
1g.97450052C>GCA2696715745DPYDc.1905+7G>C (n.1905+7G>C)
c.1689+7G>C (n.1689+7G>C)
c.1794+7G>C (n.1794+7G>C)
c.1410+7G>C (n.1410+7G>C)
dbSNP
1g.97450052C>TCA2696715744DPYDc.1905+7G>A (n.1905+7G>A)
c.1689+7G>A (n.1689+7G>A)
c.1794+7G>A (n.1794+7G>A)
c.1410+7G>A (n.1410+7G>A)
dbSNP
1g.97450053A=CA1182873426DPYDc.1905+6T= (n.1905+6T=)
c.1689+6T= (n.1689+6T=)
c.1794+6T= (n.1794+6T=)
c.1410+6T= (n.1410+6T=)
1g.97450053A>GCA2696453640DPYDc.1905+6T>C (n.1905+6T>C)
c.1689+6T>C (n.1689+6T>C)
c.1794+6T>C (n.1794+6T>C)
c.1410+6T>C (n.1410+6T>C)
dbSNP
1g.97450053A>TCA740808689DPYDc.1905+6T>A (n.1905+6T>A)
c.1689+6T>A (n.1689+6T>A)
c.1794+6T>A (n.1794+6T>A)
c.1410+6T>A (n.1410+6T>A)
dbSNP
1g.97450054C>ACA963209DPYDc.1905+5G>T (n.1905+5G>T)
c.1689+5G>T (n.1689+5G>T)
c.1794+5G>T (n.1794+5G>T)
c.1410+5G>T (n.1410+5G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450054C=CA1143940271DPYDc.1905+5G= (n.1905+5G=)
c.1689+5G= (n.1689+5G=)
c.1794+5G= (n.1794+5G=)
c.1410+5G= (n.1410+5G=)
1g.97450054C>GCA2573050636DPYDc.1905+5G>C (n.1905+5G>C)
c.1689+5G>C (n.1689+5G>C)
c.1794+5G>C (n.1794+5G>C)
c.1410+5G>C (n.1410+5G>C)
dbSNP gnomAD v4
1g.97450054C>TCA963210DPYDc.1905+5G>A (n.1905+5G>A)
c.1689+5G>A (n.1689+5G>A)
c.1794+5G>A (n.1794+5G>A)
c.1410+5G>A (n.1410+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450056delCA2646705576DPYDc.1905+4del (n.1905+4del)
c.1689+4del (n.1689+4del)
c.1794+4del (n.1794+4del)
c.1410+4del (n.1410+4del)
gnomAD v4
1g.97450056T>ACA963212DPYDc.1905+3A>T (n.1905+3A>T)
c.1689+3A>T (n.1689+3A>T)
c.1794+3A>T (n.1794+3A>T)
c.1410+3A>T (n.1410+3A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450056T>CCA525177582DPYDc.1905+3A>G (n.1905+3A>G)
c.1689+3A>G (n.1689+3A>G)
c.1794+3A>G (n.1794+3A>G)
c.1410+3A>G (n.1410+3A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97450056T=CA1182873427DPYDc.1905+3A= (n.1905+3A=)
c.1689+3A= (n.1689+3A=)
c.1794+3A= (n.1794+3A=)
c.1410+3A= (n.1410+3A=)
1g.97450057delCA2696715754DPYDc.1905+2del (n.1905+2del)
c.1689+2del (n.1689+2del)
c.1794+2del (n.1794+2del)
c.1410+2del (n.1410+2del)
dbSNP
1g.97450057A=CA1182873428DPYDc.1905+2T= (n.1905+2T=)
c.1689+2T= (n.1689+2T=)
c.1794+2T= (n.1794+2T=)
c.1410+2T= (n.1410+2T=)
1g.97450057A>CCA341375894DPYDc.1905+2T>G (n.1905+2T>G)
c.1689+2T>G (n.1689+2T>G)
c.1794+2T>G (n.1794+2T>G)
c.1410+2T>G (n.1410+2T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97450057A>GCA341375895DPYDc.1905+2T>C (n.1905+2T>C)
c.1689+2T>C (n.1689+2T>C)
c.1794+2T>C (n.1794+2T>C)
c.1410+2T>C (n.1410+2T>C)
dbSNP
1g.97450057A>TCA341375896DPYDc.1905+2T>A (n.1905+2T>A)
c.1689+2T>A (n.1689+2T>A)
c.1794+2T>A (n.1794+2T>A)
c.1410+2T>A (n.1410+2T>A)
dbSNP
1g.97450057_97450058insAACA963211DPYDc.1905+2_1905+3insTT (n.1905+2_1905+3insTT)
c.1689+2_1689+3insTT (n.1689+2_1689+3insTT)
c.1794+2_1794+3insTT (n.1794+2_1794+3insTT)
c.1410+2_1410+3insTT (n.1410+2_1410+3insTT)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450057dupCA645517140DPYDc.1905+2dup (n.1905+2dup)
c.1689+2dup (n.1689+2dup)
c.1794+2dup (n.1794+2dup)
c.1410+2dup (n.1410+2dup)
ClinVar gnomAD v4 COSMIC
1g.97450058C>ACA341375897DPYDc.1905+1G>T (n.1905+1G>T)
c.1689+1G>T (n.1689+1G>T)
c.1794+1G>T (n.1794+1G>T)
c.1410+1G>T (n.1410+1G>T)
dbSNP gnomAD v4
1g.97450058C=CA1140003401DPYDc.1905+1G= (n.1905+1G=)
c.1689+1G= (n.1689+1G=)
c.1794+1G= (n.1794+1G=)
c.1410+1G= (n.1410+1G=)
1g.97450058C>GCA963213DPYDc.1905+1G>C (n.1905+1G>C)
c.1689+1G>C (n.1689+1G>C)
c.1794+1G>C (n.1794+1G>C)
c.1410+1G>C (n.1410+1G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450058C>TCA114277DPYDc.1905+1G>A (n.1905+1G>A)
c.1689+1G>A (n.1689+1G>A)
c.1794+1G>A (n.1794+1G>A)
c.1410+1G>A (n.1410+1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450059G>ACA228109DPYDc.1905C>T (p.Asn635=)
c.1689C>T (p.Asn563=)
c.1794C>T (p.Asn598=)
c.1410C>T (p.Asn470=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450059G>CCA963214DPYDc.1905C>G (p.Asn635Lys)
c.1689C>G (p.Asn563Lys)
c.1794C>G (p.Asn598Lys)
c.1410C>G (p.Asn470Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450059G=CA1140003403DPYDc.1905C= (p.Asn635=)
c.1689C= (p.Asn563=)
c.1794C= (p.Asn598=)
c.1410C= (p.Asn470=)
1g.97450059G>TCA341375898DPYDc.1905C>A (p.Asn635Lys)
c.1689C>A (p.Asn563Lys)
c.1794C>A (p.Asn598Lys)
c.1410C>A (p.Asn470Lys)
1g.97450060T>ACA341375899DPYDc.1904A>T (p.Asn635Ile)
c.1688A>T (p.Asn563Ile)
c.1793A>T (p.Asn598Ile)
c.1409A>T (p.Asn470Ile)
dbSNP
1g.97450060T>CCA341375901DPYDc.1904A>G (p.Asn635Ser)
c.1688A>G (p.Asn563Ser)
c.1793A>G (p.Asn598Ser)
c.1409A>G (p.Asn470Ser)
1g.97450060T>GCA341375900DPYDc.1904A>C (p.Asn635Thr)
c.1688A>C (p.Asn563Thr)
c.1793A>C (p.Asn598Thr)
c.1409A>C (p.Asn470Thr)
1g.97450061dupCA2646705577DPYDc.1904dup (p.Asn635LysfsTer6)
c.1688dup (p.Asn563LysfsTer6)
c.1793dup (p.Asn598LysfsTer6)
c.1409dup (p.Asn470LysfsTer6)
gnomAD v4
1g.97450061T>ACA341375902DPYDc.1903A>T (p.Asn635Tyr)
c.1687A>T (p.Asn563Tyr)
c.1792A>T (p.Asn598Tyr)
c.1408A>T (p.Asn470Tyr)
1g.97450061T>CCA341375903DPYDc.1903A>G (p.Asn635Asp)
c.1687A>G (p.Asn563Asp)
c.1792A>G (p.Asn598Asp)
c.1408A>G (p.Asn470Asp)
gnomAD v4
1g.97450061T>GCA341375904DPYDc.1903A>C (p.Asn635His)
c.1687A>C (p.Asn563His)
c.1792A>C (p.Asn598His)
c.1408A>C (p.Asn470His)
1g.97450062G>ACA419145333DPYDc.1902C>T (p.Asp634=)
c.1686C>T (p.Asp562=)
c.1791C>T (p.Asp597=)
c.1407C>T (p.Asp469=)
dbSNP
1g.97450062G>CCA341375905DPYDc.1902C>G (p.Asp634Glu)
c.1686C>G (p.Asp562Glu)
c.1791C>G (p.Asp597Glu)
c.1407C>G (p.Asp469Glu)
dbSNP
1g.97450062G>TCA341375906DPYDc.1902C>A (p.Asp634Glu)
c.1686C>A (p.Asp562Glu)
c.1791C>A (p.Asp597Glu)
c.1407C>A (p.Asp469Glu)
gnomAD v4
1g.97450063T>ACA341375907DPYDc.1901A>T (p.Asp634Val)
c.1685A>T (p.Asp562Val)
c.1790A>T (p.Asp597Val)
c.1406A>T (p.Asp469Val)
dbSNP
1g.97450063T>CCA963215DPYDc.1901A>G (p.Asp634Gly)
c.1685A>G (p.Asp562Gly)
c.1790A>G (p.Asp597Gly)
c.1406A>G (p.Asp469Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450063T>GCA341375908DPYDc.1901A>C (p.Asp634Ala)
c.1685A>C (p.Asp562Ala)
c.1790A>C (p.Asp597Ala)
c.1406A>C (p.Asp469Ala)
dbSNP
1g.97450063T=CA1143408435DPYDc.1901A= (p.Asp634=)
c.1685A= (p.Asp562=)
c.1790A= (p.Asp597=)
c.1406A= (p.Asp469=)
1g.97450064C>ACA341375909DPYDc.1900G>T (p.Asp634Tyr)
c.1684G>T (p.Asp562Tyr)
c.1789G>T (p.Asp597Tyr)
c.1405G>T (p.Asp469Tyr)
COSMIC
1g.97450064C>GCA341375910DPYDc.1900G>C (p.Asp634His)
c.1684G>C (p.Asp562His)
c.1789G>C (p.Asp597His)
c.1405G>C (p.Asp469His)
dbSNP gnomAD v4
1g.97450064C>TCA341375911DPYDc.1900G>A (p.Asp634Asn)
c.1684G>A (p.Asp562Asn)
c.1789G>A (p.Asp597Asn)
c.1405G>A (p.Asp469Asn)
1g.97450065T>ACA419145340DPYDc.1899A>T (p.Pro633=)
c.1683A>T (p.Pro561=)
c.1788A>T (p.Pro596=)
c.1404A>T (p.Pro468=)
dbSNP
1g.97450065T>CCA419145341DPYDc.1899A>G (p.Pro633=)
c.1683A>G (p.Pro561=)
c.1788A>G (p.Pro596=)
c.1404A>G (p.Pro468=)
1g.97450065T>GCA419145342DPYDc.1899A>C (p.Pro633=)
c.1683A>C (p.Pro561=)
c.1788A>C (p.Pro596=)
c.1404A>C (p.Pro468=)
1g.97450065T=CA1182873430DPYDc.1899A= (p.Pro633=)
c.1683A= (p.Pro561=)
c.1788A= (p.Pro596=)
c.1404A= (p.Pro468=)
1g.97450065_97450066delinsTGCA1182873429DPYDc.1898_1899delinsCA (p.Pro633=)
c.1682_1683delinsCA (p.Pro561=)
c.1787_1788delinsCA (p.Pro596=)
c.1403_1404delinsCA (p.Pro468=)
1g.97450066G>ACA341375914DPYDc.1898C>T (p.Pro633Leu)
c.1682C>T (p.Pro561Leu)
c.1787C>T (p.Pro596Leu)
c.1403C>T (p.Pro468Leu)
dbSNP
1g.97450066G>CCA341375913DPYDc.1898C>G (p.Pro633Arg)
c.1682C>G (p.Pro561Arg)
c.1787C>G (p.Pro596Arg)
c.1403C>G (p.Pro468Arg)
dbSNP
1g.97450066G>TCA341375912DPYDc.1898C>A (p.Pro633Gln)
c.1682C>A (p.Pro561Gln)
c.1787C>A (p.Pro596Gln)
c.1403C>A (p.Pro468Gln)
1g.97450066_97450067delinsGGCA1140803049DPYDc.1897_1898delinsCC (p.Pro633=)
c.1681_1682delinsCC (p.Pro561=)
c.1786_1787delinsCC (p.Pro596=)
c.1402_1403delinsCC (p.Pro468=)
1g.97450067delCA27501721DPYDc.1898del (p.Pro633GlnfsTer5)
c.1682del (p.Pro561GlnfsTer5)
c.1787del (p.Pro596GlnfsTer5)
c.1403del (p.Pro468GlnfsTer5)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.97450067G>ACA341375915DPYDc.1897C>T (p.Pro633Ser)
c.1681C>T (p.Pro561Ser)
c.1786C>T (p.Pro596Ser)
c.1402C>T (p.Pro468Ser)
dbSNP COSMIC
1g.97450067G>CCA341375916DPYDc.1897C>G (p.Pro633Ala)
c.1681C>G (p.Pro561Ala)
c.1786C>G (p.Pro596Ala)
c.1402C>G (p.Pro468Ala)
dbSNP
1g.97450067G>TCA341375917DPYDc.1897C>A (p.Pro633Thr)
c.1681C>A (p.Pro561Thr)
c.1786C>A (p.Pro596Thr)
c.1402C>A (p.Pro468Thr)
dbSNP
1g.97450068A=CA1140467931DPYDc.1896T= (p.Phe632=)
c.1680T= (p.Phe560=)
c.1785T= (p.Phe595=)
c.1401T= (p.Phe467=)
1g.97450068A>CCA341375918DPYDc.1896T>G (p.Phe632Leu)
c.1680T>G (p.Phe560Leu)
c.1785T>G (p.Phe595Leu)
c.1401T>G (p.Phe467Leu)
1g.97450068A>GCA228112DPYDc.1896T>C (p.Phe632=)
c.1680T>C (p.Phe560=)
c.1785T>C (p.Phe595=)
c.1401T>C (p.Phe467=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450068A>TCA341375919DPYDc.1896T>A (p.Phe632Leu)
c.1680T>A (p.Phe560Leu)
c.1785T>A (p.Phe595Leu)
c.1401T>A (p.Phe467Leu)
1g.97450069A>CCA341375920DPYDc.1895T>G (p.Phe632Cys)
c.1679T>G (p.Phe560Cys)
c.1784T>G (p.Phe595Cys)
c.1400T>G (p.Phe467Cys)
1g.97450069A>GCA341375921DPYDc.1895T>C (p.Phe632Ser)
c.1679T>C (p.Phe560Ser)
c.1784T>C (p.Phe595Ser)
c.1400T>C (p.Phe467Ser)
gnomAD v4
1g.97450069A>TCA341375922DPYDc.1895T>A (p.Phe632Tyr)
c.1679T>A (p.Phe560Tyr)
c.1784T>A (p.Phe595Tyr)
c.1400T>A (p.Phe467Tyr)
1g.97450070A>CCA341375923DPYDc.1894T>G (p.Phe632Val)
c.1678T>G (p.Phe560Val)
c.1783T>G (p.Phe595Val)
c.1399T>G (p.Phe467Val)
1g.97450070A>GCA341375924DPYDc.1894T>C (p.Phe632Leu)
c.1678T>C (p.Phe560Leu)
c.1783T>C (p.Phe595Leu)
c.1399T>C (p.Phe467Leu)
1g.97450070A>TCA341375925DPYDc.1894T>A (p.Phe632Ile)
c.1678T>A (p.Phe560Ile)
c.1783T>A (p.Phe595Ile)
c.1399T>A (p.Phe467Ile)
dbSNP
1g.97450071G>ACA27501722DPYDc.1893C>T (p.Asp631=)
c.1677C>T (p.Asp559=)
c.1782C>T (p.Asp594=)
c.1398C>T (p.Asp466=)
dbSNP gnomAD v4
1g.97450071G>CCA341375926DPYDc.1893C>G (p.Asp631Glu)
c.1677C>G (p.Asp559Glu)
c.1782C>G (p.Asp594Glu)
c.1398C>G (p.Asp466Glu)
dbSNP COSMIC
1g.97450071G=CA1182873431DPYDc.1893C= (p.Asp631=)
c.1677C= (p.Asp559=)
c.1782C= (p.Asp594=)
c.1398C= (p.Asp466=)
1g.97450071G>TCA341375927DPYDc.1893C>A (p.Asp631Glu)
c.1677C>A (p.Asp559Glu)
c.1782C>A (p.Asp594Glu)
c.1398C>A (p.Asp466Glu)
COSMIC
1g.97450072T>ACA341375928DPYDc.1892A>T (p.Asp631Val)
c.1676A>T (p.Asp559Val)
c.1781A>T (p.Asp594Val)
c.1397A>T (p.Asp466Val)
dbSNP
1g.97450072T>CCA341375930DPYDc.1892A>G (p.Asp631Gly)
c.1676A>G (p.Asp559Gly)
c.1781A>G (p.Asp594Gly)
c.1397A>G (p.Asp466Gly)
1g.97450072T>GCA341375929DPYDc.1892A>C (p.Asp631Ala)
c.1676A>C (p.Asp559Ala)
c.1781A>C (p.Asp594Ala)
c.1397A>C (p.Asp466Ala)
dbSNP
1g.97450073C>ACA341375931DPYDc.1891G>T (p.Asp631Tyr)
c.1675G>T (p.Asp559Tyr)
c.1780G>T (p.Asp594Tyr)
c.1396G>T (p.Asp466Tyr)
dbSNP
1g.97450073C=CA1182873432DPYDc.1891G= (p.Asp631=)
c.1675G= (p.Asp559=)
c.1780G= (p.Asp594=)
c.1396G= (p.Asp466=)
1g.97450073C>GCA341375932DPYDc.1891G>C (p.Asp631His)
c.1675G>C (p.Asp559His)
c.1780G>C (p.Asp594His)
c.1396G>C (p.Asp466His)
dbSNP
1g.97450073C>TCA341375933DPYDc.1891G>A (p.Asp631Asn)
c.1675G>A (p.Asp559Asn)
c.1780G>A (p.Asp594Asn)
c.1396G>A (p.Asp466Asn)
dbSNP
1g.97450074A>CCA419145351DPYDc.1890T>G (p.Ala630=)
c.1674T>G (p.Ala558=)
c.1779T>G (p.Ala593=)
c.1395T>G (p.Ala465=)
1g.97450074A>GCA419145352DPYDc.1890T>C (p.Ala630=)
c.1674T>C (p.Ala558=)
c.1779T>C (p.Ala593=)
c.1395T>C (p.Ala465=)
dbSNP
1g.97450074A>TCA419145353DPYDc.1890T>A (p.Ala630=)
c.1674T>A (p.Ala558=)
c.1779T>A (p.Ala593=)
c.1395T>A (p.Ala465=)
dbSNP
1g.97450075G>ACA341375934DPYDc.1889C>T (p.Ala630Val)
c.1673C>T (p.Ala558Val)
c.1778C>T (p.Ala593Val)
c.1394C>T (p.Ala465Val)
dbSNP
1g.97450075G>CCA341375935DPYDc.1889C>G (p.Ala630Gly)
c.1673C>G (p.Ala558Gly)
c.1778C>G (p.Ala593Gly)
c.1394C>G (p.Ala465Gly)
dbSNP
1g.97450075G=CA1182873433DPYDc.1889C= (p.Ala630=)
c.1673C= (p.Ala558=)
c.1778C= (p.Ala593=)
c.1394C= (p.Ala465=)
1g.97450075G>TCA341375936DPYDc.1889C>A (p.Ala630Asp)
c.1673C>A (p.Ala558Asp)
c.1778C>A (p.Ala593Asp)
c.1394C>A (p.Ala465Asp)
1g.97450076C>ACA341375937DPYDc.1888G>T (p.Ala630Ser)
c.1672G>T (p.Ala558Ser)
c.1777G>T (p.Ala593Ser)
c.1393G>T (p.Ala465Ser)
dbSNP
1g.97450076C=CA1182873434DPYDc.1888G= (p.Ala630=)
c.1672G= (p.Ala558=)
c.1777G= (p.Ala593=)
c.1393G= (p.Ala465=)
1g.97450076C>GCA341375938DPYDc.1888G>C (p.Ala630Pro)
c.1672G>C (p.Ala558Pro)
c.1777G>C (p.Ala593Pro)
c.1393G>C (p.Ala465Pro)
dbSNP
1g.97450076C>TCA341375939DPYDc.1888G>A (p.Ala630Thr)
c.1672G>A (p.Ala558Thr)
c.1777G>A (p.Ala593Thr)
c.1393G>A (p.Ala465Thr)
dbSNP
1g.97450077C>ACA341375940DPYDc.1887G>T (p.Lys629Asn)
c.1671G>T (p.Lys557Asn)
c.1776G>T (p.Lys592Asn)
c.1392G>T (p.Lys464Asn)
COSMIC
1g.97450077C>GCA341375941DPYDc.1887G>C (p.Lys629Asn)
c.1671G>C (p.Lys557Asn)
c.1776G>C (p.Lys592Asn)
c.1392G>C (p.Lys464Asn)
1g.97450077C>TCA419145357DPYDc.1887G>A (p.Lys629=)
c.1671G>A (p.Lys557=)
c.1776G>A (p.Lys592=)
c.1392G>A (p.Lys464=)
1g.97450078T>ACA341375944DPYDc.1886A>T (p.Lys629Met)
c.1670A>T (p.Lys557Met)
c.1775A>T (p.Lys592Met)
c.1391A>T (p.Lys464Met)
dbSNP gnomAD v4
1g.97450078T>CCA341375942DPYDc.1886A>G (p.Lys629Arg)
c.1670A>G (p.Lys557Arg)
c.1775A>G (p.Lys592Arg)
c.1391A>G (p.Lys464Arg)
1g.97450078T>GCA341375943DPYDc.1886A>C (p.Lys629Thr)
c.1670A>C (p.Lys557Thr)
c.1775A>C (p.Lys592Thr)
c.1391A>C (p.Lys464Thr)
1g.97450079T>ACA341375945DPYDc.1885A>T (p.Lys629Ter)
c.1669A>T (p.Lys557Ter)
c.1774A>T (p.Lys592Ter)
c.1390A>T (p.Lys464Ter)
1g.97450079T>CCA341375946DPYDc.1885A>G (p.Lys629Glu)
c.1669A>G (p.Lys557Glu)
c.1774A>G (p.Lys592Glu)
c.1390A>G (p.Lys464Glu)
1g.97450079T>GCA341375947DPYDc.1885A>C (p.Lys629Gln)
c.1669A>C (p.Lys557Gln)
c.1774A>C (p.Lys592Gln)
c.1390A>C (p.Lys464Gln)
1g.97450080T>ACA419145360DPYDc.1884A>T (p.Leu628=)
c.1668A>T (p.Leu556=)
c.1773A>T (p.Leu591=)
c.1389A>T (p.Leu463=)
1g.97450080T>CCA419145361DPYDc.1884A>G (p.Leu628=)
c.1668A>G (p.Leu556=)
c.1773A>G (p.Leu591=)
c.1389A>G (p.Leu463=)
gnomAD v4
1g.97450080T>GCA419145362DPYDc.1884A>C (p.Leu628=)
c.1668A>C (p.Leu556=)
c.1773A>C (p.Leu591=)
c.1389A>C (p.Leu463=)
1g.97450081A>CCA341375948DPYDc.1883T>G (p.Leu628Arg)
c.1667T>G (p.Leu556Arg)
c.1772T>G (p.Leu591Arg)
c.1388T>G (p.Leu463Arg)
1g.97450081A>GCA341375949DPYDc.1883T>C (p.Leu628Pro)
c.1667T>C (p.Leu556Pro)
c.1772T>C (p.Leu591Pro)
c.1388T>C (p.Leu463Pro)
gnomAD v4
1g.97450081A>TCA341375950DPYDc.1883T>A (p.Leu628Gln)
c.1667T>A (p.Leu556Gln)
c.1772T>A (p.Leu591Gln)
c.1388T>A (p.Leu463Gln)
dbSNP
1g.97450082G>ACA27501723DPYDc.1882C>T (p.Leu628=)
c.1666C>T (p.Leu556=)
c.1771C>T (p.Leu591=)
c.1387C>T (p.Leu463=)
dbSNP
1g.97450082G>CCA341375951DPYDc.1882C>G (p.Leu628Val)
c.1666C>G (p.Leu556Val)
c.1771C>G (p.Leu591Val)
c.1387C>G (p.Leu463Val)
dbSNP
1g.97450082G=CA1182873435DPYDc.1882C= (p.Leu628=)
c.1666C= (p.Leu556=)
c.1771C= (p.Leu591=)
c.1387C= (p.Leu463=)
1g.97450082G>TCA341375952DPYDc.1882C>A (p.Leu628Ile)
c.1666C>A (p.Leu556Ile)
c.1771C>A (p.Leu591Ile)
c.1387C>A (p.Leu463Ile)
1g.97450083T>ACA341375953DPYDc.1881A>T (p.Glu627Asp)
c.1665A>T (p.Glu555Asp)
c.1770A>T (p.Glu590Asp)
c.1386A>T (p.Glu462Asp)
1g.97450083T>CCA419145364DPYDc.1881A>G (p.Glu627=)
c.1665A>G (p.Glu555=)
c.1770A>G (p.Glu590=)
c.1386A>G (p.Glu462=)
1g.97450083T>GCA341375954DPYDc.1881A>C (p.Glu627Asp)
c.1665A>C (p.Glu555Asp)
c.1770A>C (p.Glu590Asp)
c.1386A>C (p.Glu462Asp)
1g.97450084T>ACA341375956DPYDc.1880A>T (p.Glu627Val)
c.1664A>T (p.Glu555Val)
c.1769A>T (p.Glu590Val)
c.1385A>T (p.Glu462Val)
gnomAD v4
1g.97450084T>CCA341375957DPYDc.1880A>G (p.Glu627Gly)
c.1664A>G (p.Glu555Gly)
c.1769A>G (p.Glu590Gly)
c.1385A>G (p.Glu462Gly)
1g.97450084T>GCA341375955DPYDc.1880A>C (p.Glu627Ala)
c.1664A>C (p.Glu555Ala)
c.1769A>C (p.Glu590Ala)
c.1385A>C (p.Glu462Ala)
1g.97450085C>ACA341375958DPYDc.1879G>T (p.Glu627Ter)
c.1663G>T (p.Glu555Ter)
c.1768G>T (p.Glu590Ter)
c.1384G>T (p.Glu462Ter)
1g.97450085C>GCA341375959DPYDc.1879G>C (p.Glu627Gln)
c.1663G>C (p.Glu555Gln)
c.1768G>C (p.Glu590Gln)
c.1384G>C (p.Glu462Gln)
dbSNP
1g.97450085C>TCA341375960DPYDc.1879G>A (p.Glu627Lys)
c.1663G>A (p.Glu555Lys)
c.1768G>A (p.Glu590Lys)
c.1384G>A (p.Glu462Lys)
1g.97450086A>CCA419145366DPYDc.1878T>G (p.Thr626=)
c.1662T>G (p.Thr554=)
c.1767T>G (p.Thr589=)
c.1383T>G (p.Thr461=)
1g.97450086A>GCA419145367DPYDc.1878T>C (p.Thr626=)
c.1662T>C (p.Thr554=)
c.1767T>C (p.Thr589=)
c.1383T>C (p.Thr461=)
1g.97450086A>TCA419145369DPYDc.1878T>A (p.Thr626=)
c.1662T>A (p.Thr554=)
c.1767T>A (p.Thr589=)
c.1383T>A (p.Thr461=)
dbSNP
1g.97450087G>ACA341375961DPYDc.1877C>T (p.Thr626Ile)
c.1661C>T (p.Thr554Ile)
c.1766C>T (p.Thr589Ile)
c.1382C>T (p.Thr461Ile)
dbSNP
1g.97450087G>CCA341375962DPYDc.1877C>G (p.Thr626Ser)
c.1661C>G (p.Thr554Ser)
c.1766C>G (p.Thr589Ser)
c.1382C>G (p.Thr461Ser)
dbSNP gnomAD v4
1g.97450087G=CA1182873436DPYDc.1877C= (p.Thr626=)
c.1661C= (p.Thr554=)
c.1766C= (p.Thr589=)
c.1382C= (p.Thr461=)
1g.97450087G>TCA341375963DPYDc.1877C>A (p.Thr626Asn)
c.1661C>A (p.Thr554Asn)
c.1766C>A (p.Thr589Asn)
c.1382C>A (p.Thr461Asn)
1g.97450088T>ACA341375964DPYDc.1876A>T (p.Thr626Ser)
c.1660A>T (p.Thr554Ser)
c.1765A>T (p.Thr589Ser)
c.1381A>T (p.Thr461Ser)
dbSNP gnomAD v4
1g.97450088T>CCA341375965DPYDc.1876A>G (p.Thr626Ala)
c.1660A>G (p.Thr554Ala)
c.1765A>G (p.Thr589Ala)
c.1381A>G (p.Thr461Ala)
gnomAD v4
1g.97450088T>GCA341375966DPYDc.1876A>C (p.Thr626Pro)
c.1660A>C (p.Thr554Pro)
c.1765A>C (p.Thr589Pro)
c.1381A>C (p.Thr461Pro)
1g.97450089G>ACA419145371DPYDc.1875C>T (p.Val625=)
c.1659C>T (p.Val553=)
c.1764C>T (p.Val588=)
c.1380C>T (p.Val460=)
dbSNP
1g.97450089G>CCA419145375DPYDc.1875C>G (p.Val625=)
c.1659C>G (p.Val553=)
c.1764C>G (p.Val588=)
c.1380C>G (p.Val460=)
dbSNP
1g.97450089G=CA1182873437DPYDc.1875C= (p.Val625=)
c.1659C= (p.Val553=)
c.1764C= (p.Val588=)
c.1380C= (p.Val460=)
1g.97450089G>TCA419145373DPYDc.1875C>A (p.Val625=)
c.1659C>A (p.Val553=)
c.1764C>A (p.Val588=)
c.1380C>A (p.Val460=)
1g.97450090A>CCA341375967DPYDc.1874T>G (p.Val625Gly)
c.1658T>G (p.Val553Gly)
c.1763T>G (p.Val588Gly)
c.1379T>G (p.Val460Gly)
1g.97450090A>GCA341375968DPYDc.1874T>C (p.Val625Ala)
c.1658T>C (p.Val553Ala)
c.1763T>C (p.Val588Ala)
c.1379T>C (p.Val460Ala)
1g.97450090A>TCA341375969DPYDc.1874T>A (p.Val625Asp)
c.1658T>A (p.Val553Asp)
c.1763T>A (p.Val588Asp)
c.1379T>A (p.Val460Asp)
dbSNP
1g.97450091C>ACA341375971DPYDc.1873G>T (p.Val625Phe)
c.1657G>T (p.Val553Phe)
c.1762G>T (p.Val588Phe)
c.1378G>T (p.Val460Phe)
dbSNP
1g.97450091C>GCA341375972DPYDc.1873G>C (p.Val625Leu)
c.1657G>C (p.Val553Leu)
c.1762G>C (p.Val588Leu)
c.1378G>C (p.Val460Leu)
1g.97450091C>TCA341375970DPYDc.1873G>A (p.Val625Ile)
c.1657G>A (p.Val553Ile)
c.1762G>A (p.Val588Ile)
c.1378G>A (p.Val460Ile)
1g.97450092A=CA1182873438DPYDc.1872T= (p.Ser624=)
c.1656T= (p.Ser552=)
c.1761T= (p.Ser587=)
c.1377T= (p.Ser459=)
1g.97450092A>CCA341375973DPYDc.1872T>G (p.Ser624Arg)
c.1656T>G (p.Ser552Arg)
c.1761T>G (p.Ser587Arg)
c.1377T>G (p.Ser459Arg)
1g.97450092A>GCA419145378DPYDc.1872T>C (p.Ser624=)
c.1656T>C (p.Ser552=)
c.1761T>C (p.Ser587=)
c.1377T>C (p.Ser459=)
dbSNP gnomAD v2 gnomAD v4
1g.97450092A>TCA341375974DPYDc.1872T>A (p.Ser624Arg)
c.1656T>A (p.Ser552Arg)
c.1761T>A (p.Ser587Arg)
c.1377T>A (p.Ser459Arg)
dbSNP gnomAD v4
1g.97450093C>ACA341375975DPYDc.1871G>T (p.Ser624Ile)
c.1655G>T (p.Ser552Ile)
c.1760G>T (p.Ser587Ile)
c.1376G>T (p.Ser459Ile)
1g.97450093C>GCA341375976DPYDc.1871G>C (p.Ser624Thr)
c.1655G>C (p.Ser552Thr)
c.1760G>C (p.Ser587Thr)
c.1376G>C (p.Ser459Thr)
dbSNP
1g.97450093C>TCA341375977DPYDc.1871G>A (p.Ser624Asn)
c.1655G>A (p.Ser552Asn)
c.1760G>A (p.Ser587Asn)
c.1376G>A (p.Ser459Asn)
dbSNP
1g.97450094T>ACA341375980DPYDc.1870A>T (p.Ser624Cys)
c.1654A>T (p.Ser552Cys)
c.1759A>T (p.Ser587Cys)
c.1375A>T (p.Ser459Cys)
1g.97450094T>CCA341375978DPYDc.1870A>G (p.Ser624Gly)
c.1654A>G (p.Ser552Gly)
c.1759A>G (p.Ser587Gly)
c.1375A>G (p.Ser459Gly)
1g.97450094T>GCA341375979DPYDc.1870A>C (p.Ser624Arg)
c.1654A>C (p.Ser552Arg)
c.1759A>C (p.Ser587Arg)
c.1375A>C (p.Ser459Arg)
1g.97450095T>ACA341375981DPYDc.1869A>T (p.Gln623His)
c.1653A>T (p.Gln551His)
c.1758A>T (p.Gln586His)
c.1374A>T (p.Gln458His)
1g.97450095T>CCA419145381DPYDc.1869A>G (p.Gln623=)
c.1653A>G (p.Gln551=)
c.1758A>G (p.Gln586=)
c.1374A>G (p.Gln458=)
1g.97450095T>GCA341375982DPYDc.1869A>C (p.Gln623His)
c.1653A>C (p.Gln551His)
c.1758A>C (p.Gln586His)
c.1374A>C (p.Gln458His)
dbSNP
1g.97450096T>ACA341375983DPYDc.1868A>T (p.Gln623Leu)
c.1652A>T (p.Gln551Leu)
c.1757A>T (p.Gln586Leu)
c.1373A>T (p.Gln458Leu)
1g.97450096T>CCA341375984DPYDc.1868A>G (p.Gln623Arg)
c.1652A>G (p.Gln551Arg)
c.1757A>G (p.Gln586Arg)
c.1373A>G (p.Gln458Arg)
1g.97450096T>GCA341375985DPYDc.1868A>C (p.Gln623Pro)
c.1652A>C (p.Gln551Pro)
c.1757A>C (p.Gln586Pro)
c.1373A>C (p.Gln458Pro)
gnomAD v4
1g.97450097G>ACA341375988DPYDc.1867C>T (p.Gln623Ter)
c.1651C>T (p.Gln551Ter)
c.1756C>T (p.Gln586Ter)
c.1372C>T (p.Gln458Ter)
dbSNP
1g.97450097G>CCA341375987DPYDc.1867C>G (p.Gln623Glu)
c.1651C>G (p.Gln551Glu)
c.1756C>G (p.Gln586Glu)
c.1372C>G (p.Gln458Glu)
dbSNP
1g.97450097G>TCA341375986DPYDc.1867C>A (p.Gln623Lys)
c.1651C>A (p.Gln551Lys)
c.1756C>A (p.Gln586Lys)
c.1372C>A (p.Gln458Lys)
1g.97450098A>CCA341375989DPYDc.1866T>G (p.Cys622Trp)
c.1650T>G (p.Cys550Trp)
c.1755T>G (p.Cys585Trp)
c.1371T>G (p.Cys457Trp)
1g.97450098A>GCA419145400DPYDc.1866T>C (p.Cys622=)
c.1650T>C (p.Cys550=)
c.1755T>C (p.Cys585=)
c.1371T>C (p.Cys457=)
dbSNP
1g.97450098A>TCA341375990DPYDc.1866T>A (p.Cys622Ter)
c.1650T>A (p.Cys550Ter)
c.1755T>A (p.Cys585Ter)
c.1371T>A (p.Cys457Ter)
dbSNP
1g.97450099C>ACA341375991DPYDc.1865G>T (p.Cys622Phe)
c.1649G>T (p.Cys550Phe)
c.1754G>T (p.Cys585Phe)
c.1370G>T (p.Cys457Phe)
1g.97450099C=CA1143482160DPYDc.1865G= (p.Cys622=)
c.1649G= (p.Cys550=)
c.1754G= (p.Cys585=)
c.1370G= (p.Cys457=)
1g.97450099C>GCA341375992DPYDc.1865G>C (p.Cys622Ser)
c.1649G>C (p.Cys550Ser)
c.1754G>C (p.Cys585Ser)
c.1370G>C (p.Cys457Ser)
dbSNP
1g.97450099C>TCA963216DPYDc.1865G>A (p.Cys622Tyr)
c.1649G>A (p.Cys550Tyr)
c.1754G>A (p.Cys585Tyr)
c.1370G>A (p.Cys457Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450101_97450103dupCA2574442214DPYDc.1863_1865dup (p.Trp621_Cys622insTrp)
c.1647_1649dup (p.Trp549_Cys550insTrp)
c.1752_1754dup (p.Trp584_Cys585insTrp)
c.1368_1370dup (p.Trp456_Cys457insTrp)
1g.97450100A=CA1182873439DPYDc.1864T= (p.Cys622=)
c.1648T= (p.Cys550=)
c.1753T= (p.Cys585=)
c.1369T= (p.Cys457=)
1g.97450100A>CCA341375993DPYDc.1864T>G (p.Cys622Gly)
c.1648T>G (p.Cys550Gly)
c.1753T>G (p.Cys585Gly)
c.1369T>G (p.Cys457Gly)
1g.97450100A>GCA341375994DPYDc.1864T>C (p.Cys622Arg)
c.1648T>C (p.Cys550Arg)
c.1753T>C (p.Cys585Arg)
c.1369T>C (p.Cys457Arg)
dbSNP
1g.97450100A>TCA341375995DPYDc.1864T>A (p.Cys622Ser)
c.1648T>A (p.Cys550Ser)
c.1753T>A (p.Cys585Ser)
c.1369T>A (p.Cys457Ser)
gnomAD v4
1g.97450101C>ACA341375996DPYDc.1863G>T (p.Trp621Cys)
c.1647G>T (p.Trp549Cys)
c.1752G>T (p.Trp584Cys)
c.1368G>T (p.Trp456Cys)
dbSNP gnomAD v4
1g.97450101C=CA1182873440DPYDc.1863G= (p.Trp621=)
c.1647G= (p.Trp549=)
c.1752G= (p.Trp584=)
c.1368G= (p.Trp456=)
1g.97450101C>GCA341375997DPYDc.1863G>C (p.Trp621Cys)
c.1647G>C (p.Trp549Cys)
c.1752G>C (p.Trp584Cys)
c.1368G>C (p.Trp456Cys)
dbSNP
1g.97450101C>TCA16040800DPYDc.1863G>A (p.Trp621Ter)
c.1647G>A (p.Trp549Ter)
c.1752G>A (p.Trp584Ter)
c.1368G>A (p.Trp456Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97450102C>ACA341375998DPYDc.1862G>T (p.Trp621Leu)
c.1646G>T (p.Trp549Leu)
c.1751G>T (p.Trp584Leu)
c.1367G>T (p.Trp456Leu)
dbSNP
1g.97450102C=CA1182873441DPYDc.1862G= (p.Trp621=)
c.1646G= (p.Trp549=)
c.1751G= (p.Trp584=)
c.1367G= (p.Trp456=)
1g.97450102C>GCA341375999DPYDc.1862G>C (p.Trp621Ser)
c.1646G>C (p.Trp549Ser)
c.1751G>C (p.Trp584Ser)
c.1367G>C (p.Trp456Ser)
1g.97450102C>TCA341376000DPYDc.1862G>A (p.Trp621Ter)
c.1646G>A (p.Trp549Ter)
c.1751G>A (p.Trp584Ter)
c.1367G>A (p.Trp456Ter)
dbSNP gnomAD v3 gnomAD v4
1g.97450103A>CCA341376001DPYDc.1861T>G (p.Trp621Gly)
c.1645T>G (p.Trp549Gly)
c.1750T>G (p.Trp584Gly)
c.1366T>G (p.Trp456Gly)
1g.97450103A>GCA341376002DPYDc.1861T>C (p.Trp621Arg)
c.1645T>C (p.Trp549Arg)
c.1750T>C (p.Trp584Arg)
c.1366T>C (p.Trp456Arg)
1g.97450103A>TCA341376003DPYDc.1861T>A (p.Trp621Arg)
c.1645T>A (p.Trp549Arg)
c.1750T>A (p.Trp584Arg)
c.1366T>A (p.Trp456Arg)
1g.97450104A>CCA341376004DPYDc.1860T>G (p.Tyr620Ter)
c.1644T>G (p.Tyr548Ter)
c.1749T>G (p.Tyr583Ter)
c.1365T>G (p.Tyr455Ter)
1g.97450104A>GCA419145434DPYDc.1860T>C (p.Tyr620=)
c.1644T>C (p.Tyr548=)
c.1749T>C (p.Tyr583=)
c.1365T>C (p.Tyr455=)
gnomAD v4
1g.97450104A>TCA341376005DPYDc.1860T>A (p.Tyr620Ter)
c.1644T>A (p.Tyr548Ter)
c.1749T>A (p.Tyr583Ter)
c.1365T>A (p.Tyr455Ter)
1g.97450105T>ACA963217DPYDc.1859A>T (p.Tyr620Phe)
c.1643A>T (p.Tyr548Phe)
c.1748A>T (p.Tyr583Phe)
c.1364A>T (p.Tyr455Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450105T>CCA963218DPYDc.1859A>G (p.Tyr620Cys)
c.1643A>G (p.Tyr548Cys)
c.1748A>G (p.Tyr583Cys)
c.1364A>G (p.Tyr455Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450105T>GCA341376006DPYDc.1859A>C (p.Tyr620Ser)
c.1643A>C (p.Tyr548Ser)
c.1748A>C (p.Tyr583Ser)
c.1364A>C (p.Tyr455Ser)
1g.97450105T=CA1148868018DPYDc.1859A= (p.Tyr620=)
c.1643A= (p.Tyr548=)
c.1748A= (p.Tyr583=)
c.1364A= (p.Tyr455=)
1g.97450106A>CCA341376007DPYDc.1858T>G (p.Tyr620Asp)
c.1642T>G (p.Tyr548Asp)
c.1747T>G (p.Tyr583Asp)
c.1363T>G (p.Tyr455Asp)
1g.97450106A>GCA341376008DPYDc.1858T>C (p.Tyr620His)
c.1642T>C (p.Tyr548His)
c.1747T>C (p.Tyr583His)
c.1363T>C (p.Tyr455His)
1g.97450106A>TCA341376009DPYDc.1858T>A (p.Tyr620Asn)
c.1642T>A (p.Tyr548Asn)
c.1747T>A (p.Tyr583Asn)
c.1363T>A (p.Tyr455Asn)
1g.97450107T>ACA419145448DPYDc.1857A>T (p.Ala619=)
c.1641A>T (p.Ala547=)
c.1746A>T (p.Ala582=)
c.1362A>T (p.Ala454=)
1g.97450107T>CCA963219DPYDc.1857A>G (p.Ala619=)
c.1641A>G (p.Ala547=)
c.1746A>G (p.Ala582=)
c.1362A>G (p.Ala454=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450107T>GCA419145454DPYDc.1857A>C (p.Ala619=)
c.1641A>C (p.Ala547=)
c.1746A>C (p.Ala582=)
c.1362A>C (p.Ala454=)
dbSNP gnomAD v4
1g.97450107T=CA1182873442DPYDc.1857A= (p.Ala619=)
c.1641A= (p.Ala547=)
c.1746A= (p.Ala582=)
c.1362A= (p.Ala454=)
1g.97450108G>ACA341376010DPYDc.1856C>T (p.Ala619Val)
c.1640C>T (p.Ala547Val)
c.1745C>T (p.Ala582Val)
c.1361C>T (p.Ala454Val)
dbSNP
1g.97450108G>CCA341376011DPYDc.1856C>G (p.Ala619Gly)
c.1640C>G (p.Ala547Gly)
c.1745C>G (p.Ala582Gly)
c.1361C>G (p.Ala454Gly)
dbSNP
1g.97450108G>TCA341376012DPYDc.1856C>A (p.Ala619Glu)
c.1640C>A (p.Ala547Glu)
c.1745C>A (p.Ala582Glu)
c.1361C>A (p.Ala454Glu)
1g.97450109C>ACA341376014DPYDc.1855G>T (p.Ala619Ser)
c.1639G>T (p.Ala547Ser)
c.1744G>T (p.Ala582Ser)
c.1360G>T (p.Ala454Ser)
dbSNP
1g.97450109C=CA1182873443DPYDc.1855G= (p.Ala619=)
c.1639G= (p.Ala547=)
c.1744G= (p.Ala582=)
c.1360G= (p.Ala454=)
1g.97450109C>GCA341376015DPYDc.1855G>C (p.Ala619Pro)
c.1639G>C (p.Ala547Pro)
c.1744G>C (p.Ala582Pro)
c.1360G>C (p.Ala454Pro)
dbSNP
1g.97450109C>TCA341376013DPYDc.1855G>A (p.Ala619Thr)
c.1639G>A (p.Ala547Thr)
c.1744G>A (p.Ala582Thr)
c.1360G>A (p.Ala454Thr)
dbSNP gnomAD v2 gnomAD v4
1g.97450109_97450110insTTCCA2646705578DPYDc.1855_1856insAAG (p.Ala618_Ala619insGlu)
c.1639_1640insAAG (p.Ala546_Ala547insGlu)
c.1744_1745insAAG (p.Ala581_Ala582insGlu)
c.1360_1361insAAG (p.Ala453_Ala454insGlu)
gnomAD v4
1g.97450110A=CA1182873444DPYDc.1854T= (p.Ala618=)
c.1638T= (p.Ala546=)
c.1743T= (p.Ala581=)
c.1359T= (p.Ala453=)
1g.97450110A>CCA419145473DPYDc.1854T>G (p.Ala618=)
c.1638T>G (p.Ala546=)
c.1743T>G (p.Ala581=)
c.1359T>G (p.Ala453=)
1g.97450110A>GCA419145475DPYDc.1854T>C (p.Ala618=)
c.1638T>C (p.Ala546=)
c.1743T>C (p.Ala581=)
c.1359T>C (p.Ala453=)
dbSNP
1g.97450110A>TCA419145476DPYDc.1854T>A (p.Ala618=)
c.1638T>A (p.Ala546=)
c.1743T>A (p.Ala581=)
c.1359T>A (p.Ala453=)
dbSNP
1g.97450111G>ACA341376016DPYDc.1853C>T (p.Ala618Val)
c.1637C>T (p.Ala546Val)
c.1742C>T (p.Ala581Val)
c.1358C>T (p.Ala453Val)
1g.97450111G>CCA341376017DPYDc.1853C>G (p.Ala618Gly)
c.1637C>G (p.Ala546Gly)
c.1742C>G (p.Ala581Gly)
c.1358C>G (p.Ala453Gly)
dbSNP
1g.97450111G>TCA341376018DPYDc.1853C>A (p.Ala618Asp)
c.1637C>A (p.Ala546Asp)
c.1742C>A (p.Ala581Asp)
c.1358C>A (p.Ala453Asp)
1g.97450111_97450112insTGCA2646705579DPYDc.1853_1854insAC (p.Ala619LeufsTer11)
c.1637_1638insAC (p.Ala547LeufsTer11)
c.1742_1743insAC (p.Ala582LeufsTer11)
c.1358_1359insAC (p.Ala454LeufsTer11)
gnomAD v4
1g.97450111_97450120delCA2646705580DPYDc.1844_1853del (p.Glu615ValfsTer11)
c.1628_1637del (p.Glu543ValfsTer11)
c.1733_1742del (p.Glu578ValfsTer11)
c.1349_1358del (p.Glu450ValfsTer11)
gnomAD v4
1g.97450112C>ACA341376019DPYDc.1852G>T (p.Ala618Ser)
c.1636G>T (p.Ala546Ser)
c.1741G>T (p.Ala581Ser)
c.1357G>T (p.Ala453Ser)
dbSNP gnomAD v4
1g.97450112C>GCA341376020DPYDc.1852G>C (p.Ala618Pro)
c.1636G>C (p.Ala546Pro)
c.1741G>C (p.Ala581Pro)
c.1357G>C (p.Ala453Pro)
dbSNP
1g.97450112C>TCA341376021DPYDc.1852G>A (p.Ala618Thr)
c.1636G>A (p.Ala546Thr)
c.1741G>A (p.Ala581Thr)
c.1357G>A (p.Ala453Thr)
dbSNP
1g.97450113C>ACA419145490DPYDc.1851G>T (p.Thr617=)
c.1635G>T (p.Thr545=)
c.1740G>T (p.Thr580=)
c.1356G>T (p.Thr452=)
1g.97450113C=CA1148471790DPYDc.1851G= (p.Thr617=)
c.1635G= (p.Thr545=)
c.1740G= (p.Thr580=)
c.1356G= (p.Thr452=)
1g.97450113C>GCA419145498DPYDc.1851G>C (p.Thr617=)
c.1635G>C (p.Thr545=)
c.1740G>C (p.Thr580=)
c.1356G>C (p.Thr452=)
dbSNP
1g.97450113C>TCA963220DPYDc.1851G>A (p.Thr617=)
c.1635G>A (p.Thr545=)
c.1740G>A (p.Thr580=)
c.1356G>A (p.Thr452=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.97450114G>ACA963221DPYDc.1850C>T (p.Thr617Met)
c.1634C>T (p.Thr545Met)
c.1739C>T (p.Thr580Met)
c.1355C>T (p.Thr452Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.97450114G>CCA341376022DPYDc.1850C>G (p.Thr617Arg)
c.1634C>G (p.Thr545Arg)
c.1739C>G (p.Thr580Arg)
c.1355C>G (p.Thr452Arg)
dbSNP
1g.97450114G=CA1182873445DPYDc.1850C= (p.Thr617=)
c.1634C= (p.Thr545=)
c.1739C= (p.Thr580=)
c.1355C= (p.Thr452=)
1g.97450114G>TCA341376023DPYDc.1850C>A (p.Thr617Lys)
c.1634C>A (p.Thr545Lys)
c.1739C>A (p.Thr580Lys)
c.1355C>A (p.Thr452Lys)
1g.97450115T>ACA341376024DPYDc.1849A>T (p.Thr617Ser)
c.1633A>T (p.Thr545Ser)
c.1738A>T (p.Thr580Ser)
c.1354A>T (p.Thr452Ser)
dbSNP
1g.97450115T>CCA963222DPYDc.1849A>G (p.Thr617Ala)
c.1633A>G (p.Thr545Ala)
c.1738A>G (p.Thr580Ala)
c.1354A>G (p.Thr452Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450115T>GCA341376025DPYDc.1849A>C (p.Thr617Pro)
c.1633A>C (p.Thr545Pro)
c.1738A>C (p.Thr580Pro)
c.1354A>C (p.Thr452Pro)
1g.97450115T=CA1182873446DPYDc.1849A= (p.Thr617=)
c.1633A= (p.Thr545=)
c.1738A= (p.Thr580=)
c.1354A= (p.Thr452=)
1g.97450116T>ACA341376027DPYDc.1848A>T (p.Lys616Asn)
c.1632A>T (p.Lys544Asn)
c.1737A>T (p.Lys579Asn)
c.1353A>T (p.Lys451Asn)
dbSNP
1g.97450116T>CCA419145515DPYDc.1848A>G (p.Lys616=)
c.1632A>G (p.Lys544=)
c.1737A>G (p.Lys579=)
c.1353A>G (p.Lys451=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97450116T>GCA341376026DPYDc.1848A>C (p.Lys616Asn)
c.1632A>C (p.Lys544Asn)
c.1737A>C (p.Lys579Asn)
c.1353A>C (p.Lys451Asn)
dbSNP
1g.97450116T=CA1182873447DPYDc.1848A= (p.Lys616=)
c.1632A= (p.Lys544=)
c.1737A= (p.Lys579=)
c.1353A= (p.Lys451=)
1g.97450117T>ACA341376028DPYDc.1847A>T (p.Lys616Ile)
c.1631A>T (p.Lys544Ile)
c.1736A>T (p.Lys579Ile)
c.1352A>T (p.Lys451Ile)
1g.97450117T>CCA341376029DPYDc.1847A>G (p.Lys616Arg)
c.1631A>G (p.Lys544Arg)
c.1736A>G (p.Lys579Arg)
c.1352A>G (p.Lys451Arg)
gnomAD v4
1g.97450117T>GCA341376030DPYDc.1847A>C (p.Lys616Thr)
c.1631A>C (p.Lys544Thr)
c.1736A>C (p.Lys579Thr)
c.1352A>C (p.Lys451Thr)
1g.97450118T>ACA341376031DPYDc.1846A>T (p.Lys616Ter)
c.1630A>T (p.Lys544Ter)
c.1735A>T (p.Lys579Ter)
c.1351A>T (p.Lys451Ter)
1g.97450118T>CCA341376032DPYDc.1846A>G (p.Lys616Glu)
c.1630A>G (p.Lys544Glu)
c.1735A>G (p.Lys579Glu)
c.1351A>G (p.Lys451Glu)
1g.97450118T>GCA963223DPYDc.1846A>C (p.Lys616Gln)
c.1630A>C (p.Lys544Gln)
c.1735A>C (p.Lys579Gln)
c.1351A>C (p.Lys451Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450118T=CA1143577661DPYDc.1846A= (p.Lys616=)
c.1630A= (p.Lys544=)
c.1735A= (p.Lys579=)
c.1351A= (p.Lys451=)
1g.97450119C>ACA341376033DPYDc.1845G>T (p.Glu615Asp)
c.1629G>T (p.Glu543Asp)
c.1734G>T (p.Glu578Asp)
c.1350G>T (p.Glu450Asp)
dbSNP
1g.97450119C>GCA341376034DPYDc.1845G>C (p.Glu615Asp)
c.1629G>C (p.Glu543Asp)
c.1734G>C (p.Glu578Asp)
c.1350G>C (p.Glu450Asp)
1g.97450119C>TCA419145529DPYDc.1845G>A (p.Glu615=)
c.1629G>A (p.Glu543=)
c.1734G>A (p.Glu578=)
c.1350G>A (p.Glu450=)
gnomAD v4
1g.97450120T>ACA341376035DPYDc.1844A>T (p.Glu615Val)
c.1628A>T (p.Glu543Val)
c.1733A>T (p.Glu578Val)
c.1349A>T (p.Glu450Val)
dbSNP
1g.97450120T>CCA341376036DPYDc.1844A>G (p.Glu615Gly)
c.1628A>G (p.Glu543Gly)
c.1733A>G (p.Glu578Gly)
c.1349A>G (p.Glu450Gly)
1g.97450120T>GCA341376037DPYDc.1844A>C (p.Glu615Ala)
c.1628A>C (p.Glu543Ala)
c.1733A>C (p.Glu578Ala)
c.1349A>C (p.Glu450Ala)
COSMIC
1g.97450121C>ACA341376038DPYDc.1843G>T (p.Glu615Ter)
c.1627G>T (p.Glu543Ter)
c.1732G>T (p.Glu578Ter)
c.1348G>T (p.Glu450Ter)
1g.97450121C>GCA341376039DPYDc.1843G>C (p.Glu615Gln)
c.1627G>C (p.Glu543Gln)
c.1732G>C (p.Glu578Gln)
c.1348G>C (p.Glu450Gln)
dbSNP
1g.97450121C>TCA341376040DPYDc.1843G>A (p.Glu615Lys)
c.1627G>A (p.Glu543Lys)
c.1732G>A (p.Glu578Lys)
c.1348G>A (p.Glu450Lys)
dbSNP
1g.97450122A>CCA341376041DPYDc.1842T>G (p.Ser614Arg)
c.1626T>G (p.Ser542Arg)
c.1731T>G (p.Ser577Arg)
c.1347T>G (p.Ser449Arg)
1g.97450122A>GCA419145544DPYDc.1842T>C (p.Ser614=)
c.1626T>C (p.Ser542=)
c.1731T>C (p.Ser577=)
c.1347T>C (p.Ser449=)
dbSNP
1g.97450122A>TCA341376042DPYDc.1842T>A (p.Ser614Arg)
c.1626T>A (p.Ser542Arg)
c.1731T>A (p.Ser577Arg)
c.1347T>A (p.Ser449Arg)
dbSNP
1g.97450123C>ACA341376043DPYDc.1841G>T (p.Ser614Ile)
c.1625G>T (p.Ser542Ile)
c.1730G>T (p.Ser577Ile)
c.1346G>T (p.Ser449Ile)
1g.97450123C=CA1182873448DPYDc.1841G= (p.Ser614=)
c.1625G= (p.Ser542=)
c.1730G= (p.Ser577=)
c.1346G= (p.Ser449=)
1g.97450123C>GCA341376045DPYDc.1841G>C (p.Ser614Thr)
c.1625G>C (p.Ser542Thr)
c.1730G>C (p.Ser577Thr)
c.1346G>C (p.Ser449Thr)
dbSNP
1g.97450123C>TCA341376044DPYDc.1841G>A (p.Ser614Asn)
c.1625G>A (p.Ser542Asn)
c.1730G>A (p.Ser577Asn)
c.1346G>A (p.Ser449Asn)
dbSNP gnomAD v2 gnomAD v4
1g.97450124T>ACA341376046DPYDc.1840A>T (p.Ser614Cys)
c.1624A>T (p.Ser542Cys)
c.1729A>T (p.Ser577Cys)
c.1345A>T (p.Ser449Cys)
COSMIC
1g.97450124T>CCA341376047DPYDc.1840A>G (p.Ser614Gly)
c.1624A>G (p.Ser542Gly)
c.1729A>G (p.Ser577Gly)
c.1345A>G (p.Ser449Gly)
1g.97450124T>GCA341376048DPYDc.1840A>C (p.Ser614Arg)
c.1624A>C (p.Ser542Arg)
c.1729A>C (p.Ser577Arg)
c.1345A>C (p.Ser449Arg)
gnomAD v4
1g.97450125G>ACA419145557DPYDc.1839C>T (p.Ile613=)
c.1623C>T (p.Ile541=)
c.1728C>T (p.Ile576=)
c.1344C>T (p.Ile448=)
dbSNP gnomAD v4
1g.97450125G>CCA341376049DPYDc.1839C>G (p.Ile613Met)
c.1623C>G (p.Ile541Met)
c.1728C>G (p.Ile576Met)
c.1344C>G (p.Ile448Met)
dbSNP
1g.97450125G>TCA419145561DPYDc.1839C>A (p.Ile613=)
c.1623C>A (p.Ile541=)
c.1728C>A (p.Ile576=)
c.1344C>A (p.Ile448=)
1g.97450126A=CA1182873449DPYDc.1838T= (p.Ile613=)
c.1622T= (p.Ile541=)
c.1727T= (p.Ile576=)
c.1343T= (p.Ile448=)
1g.97450126A>CCA341376050DPYDc.1838T>G (p.Ile613Ser)
c.1622T>G (p.Ile541Ser)
c.1727T>G (p.Ile576Ser)
c.1343T>G (p.Ile448Ser)
1g.97450126A>GCA341376051DPYDc.1838T>C (p.Ile613Thr)
c.1622T>C (p.Ile541Thr)
c.1727T>C (p.Ile576Thr)
c.1343T>C (p.Ile448Thr)
gnomAD v4
1g.97450126A>TCA341376052DPYDc.1838T>A (p.Ile613Asn)
c.1622T>A (p.Ile541Asn)
c.1727T>A (p.Ile576Asn)
c.1343T>A (p.Ile448Asn)
dbSNP gnomAD v4
1g.97450127T>ACA341376053DPYDc.1837A>T (p.Ile613Phe)
c.1621A>T (p.Ile541Phe)
c.1726A>T (p.Ile576Phe)
c.1342A>T (p.Ile448Phe)
1g.97450127T>CCA963225DPYDc.1837A>G (p.Ile613Val)
c.1621A>G (p.Ile541Val)
c.1726A>G (p.Ile576Val)
c.1342A>G (p.Ile448Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450127T>GCA963224DPYDc.1837A>C (p.Ile613Leu)
c.1621A>C (p.Ile541Leu)
c.1726A>C (p.Ile576Leu)
c.1342A>C (p.Ile448Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.97450127T=CA1182873450DPYDc.1837A= (p.Ile613=)
c.1621A= (p.Ile541=)
c.1726A= (p.Ile576=)
c.1342A= (p.Ile448=)
1g.97450128G>ACA419145577DPYDc.1836C>T (p.Leu612=)
c.1620C>T (p.Leu540=)
c.1725C>T (p.Leu575=)
c.1341C>T (p.Leu447=)
dbSNP
1g.97450128G>CCA419145579DPYDc.1836C>G (p.Leu612=)
c.1620C>G (p.Leu540=)
c.1725C>G (p.Leu575=)
c.1341C>G (p.Leu447=)
1g.97450128G=CA1142412913DPYDc.1836C= (p.Leu612=)
c.1620C= (p.Leu540=)
c.1725C= (p.Leu575=)
c.1341C= (p.Leu447=)
1g.97450128G>TCA27501724DPYDc.1836C>A (p.Leu612=)
c.1620C>A (p.Leu540=)
c.1725C>A (p.Leu575=)
c.1341C>A (p.Leu447=)
dbSNP gnomAD v3 gnomAD v4
1g.97450129A>CCA341376056DPYDc.1835T>G (p.Leu612Arg)
c.1619T>G (p.Leu540Arg)
c.1724T>G (p.Leu575Arg)
c.1340T>G (p.Leu447Arg)
1g.97450129A>GCA341376055DPYDc.1835T>C (p.Leu612Pro)
c.1619T>C (p.Leu540Pro)
c.1724T>C (p.Leu575Pro)
c.1340T>C (p.Leu447Pro)
1g.97450129A>TCA341376054DPYDc.1835T>A (p.Leu612His)
c.1619T>A (p.Leu540His)
c.1724T>A (p.Leu575His)
c.1340T>A (p.Leu447His)
1g.97450130G>ACA341376057DPYDc.1834C>T (p.Leu612Phe)
c.1618C>T (p.Leu540Phe)
c.1723C>T (p.Leu575Phe)
c.1339C>T (p.Leu447Phe)
dbSNP gnomAD v4
1g.97450130G>CCA341376058DPYDc.1834C>G (p.Leu612Val)
c.1618C>G (p.Leu540Val)
c.1723C>G (p.Leu575Val)
c.1339C>G (p.Leu447Val)
dbSNP
1g.97450130G>TCA341376059DPYDc.1834C>A (p.Leu612Ile)
c.1618C>A (p.Leu540Ile)
c.1723C>A (p.Leu575Ile)
c.1339C>A (p.Leu447Ile)
1g.97450131C>ACA341376060DPYDc.1833G>T (p.Glu611Asp)
c.1617G>T (p.Glu539Asp)
c.1722G>T (p.Glu574Asp)
c.1338G>T (p.Glu446Asp)
dbSNP
1g.97450131C=CA1182873451DPYDc.1833G= (p.Glu611=)
c.1617G= (p.Glu539=)
c.1722G= (p.Glu574=)
c.1338G= (p.Glu446=)
1g.97450131C>GCA341376061DPYDc.1833G>C (p.Glu611Asp)
c.1617G>C (p.Glu539Asp)
c.1722G>C (p.Glu574Asp)
c.1338G>C (p.Glu446Asp)
dbSNP
1g.97450131C>TCA419145597DPYDc.1833G>A (p.Glu611=)
c.1617G>A (p.Glu539=)
c.1722G>A (p.Glu574=)
c.1338G>A (p.Glu446=)
gnomAD v4
1g.97450132T>ACA963226DPYDc.1832A>T (p.Glu611Val)
c.1616A>T (p.Glu539Val)
c.1721A>T (p.Glu574Val)
c.1337A>T (p.Glu446Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97450132T>CCA341376062DPYDc.1832A>G (p.Glu611Gly)
c.1616A>G (p.Glu539Gly)
c.1721A>G (p.Glu574Gly)
c.1337A>G (p.Glu446Gly)
dbSNP
1g.97450132T>GCA341376063DPYDc.1832A>C (p.Glu611Ala)
c.1616A>C (p.Glu539Ala)
c.1721A>C (p.Glu574Ala)
c.1337A>C (p.Glu446Ala)
1g.97450132T=CA1182873452DPYDc.1832A= (p.Glu611=)
c.1616A= (p.Glu539=)
c.1721A= (p.Glu574=)
c.1337A= (p.Glu446=)

Number of alleles fetched