Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97691682delCA2574442389DPYDc.762+39del (n.762+39del)
n.565del
c.651+39del (n.651+39del)
c.267+39del (n.267+39del)
1g.97691681T>CCA963568DPYDc.762+36A>G (n.762+36A>G)
n.562A>G
c.651+36A>G (n.651+36A>G)
c.267+36A>G (n.267+36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691681T=CA1182979286DPYDc.762+36A= (n.762+36A=)
n.562A=
c.651+36A= (n.651+36A=)
c.267+36A= (n.267+36A=)
1g.97691683G>ACA27624631DPYDc.762+34C>T (n.762+34C>T)
n.560C>T
c.651+34C>T (n.651+34C>T)
c.267+34C>T (n.267+34C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.97691683G=CA1182979287DPYDc.762+34C= (n.762+34C=)
n.560C=
c.651+34C= (n.651+34C=)
c.267+34C= (n.267+34C=)
1g.97691683G>TCA2646707052DPYDc.762+34C>A (n.762+34C>A)
n.560C>A
c.651+34C>A (n.651+34C>A)
c.267+34C>A (n.267+34C>A)
 gnomAD v4
1g.97691684A>GCA2574442390DPYDc.762+33T>C (n.762+33T>C)
n.559T>C
c.651+33T>C (n.651+33T>C)
c.267+33T>C (n.267+33T>C)
 gnomAD v4
1g.97691685G>ACA2646707053DPYDc.762+32C>T (n.762+32C>T)
n.558C>T
c.651+32C>T (n.651+32C>T)
c.267+32C>T (n.267+32C>T)
 gnomAD v4
1g.97691685G>TCA2646707054DPYDc.762+32C>A (n.762+32C>A)
n.558C>A
c.651+32C>A (n.651+32C>A)
c.267+32C>A (n.267+32C>A)
 gnomAD v4
1g.97691686C>TCA2646707055DPYDc.762+31G>A (n.762+31G>A)
n.557G>A
c.651+31G>A (n.651+31G>A)
c.267+31G>A (n.267+31G>A)
 gnomAD v4
1g.97691687A=CA1182979288DPYDc.762+30T= (n.762+30T=)
n.556T=
c.651+30T= (n.651+30T=)
c.267+30T= (n.267+30T=)
1g.97691687A>CCA1004794500DPYDc.762+30T>G (n.762+30T>G)
n.556T>G
c.651+30T>G (n.651+30T>G)
c.267+30T>G (n.267+30T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.97691687A>TCA963569DPYDc.762+30T>A (n.762+30T>A)
n.556T>A
c.651+30T>A (n.651+30T>A)
c.267+30T>A (n.267+30T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691688G>TCA2646707056DPYDc.762+29C>A (n.762+29C>A)
n.555C>A
c.651+29C>A (n.651+29C>A)
c.267+29C>A (n.267+29C>A)
 gnomAD v4
1g.97691689T>CCA524790373DPYDc.762+28A>G (n.762+28A>G)
n.554A>G
c.651+28A>G (n.651+28A>G)
c.267+28A>G (n.267+28A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.97691689T=CA1182979289DPYDc.762+28A= (n.762+28A=)
n.554A=
c.651+28A= (n.651+28A=)
c.267+28A= (n.267+28A=)
1g.97691691C>ACA2646707057DPYDc.762+26G>T (n.762+26G>T)
n.552G>T
c.651+26G>T (n.651+26G>T)
c.267+26G>T (n.267+26G>T)
 gnomAD v4
1g.97691691C=CA1182979290DPYDc.762+26G= (n.762+26G=)
n.552G=
c.651+26G= (n.651+26G=)
c.267+26G= (n.267+26G=)
1g.97691691C>TCA27624640DPYDc.762+26G>A (n.762+26G>A)
n.552G>A
c.651+26G>A (n.651+26G>A)
c.267+26G>A (n.267+26G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.97691693C>TCA1004794507DPYDc.762+24G>A (n.762+24G>A)
n.550G>A
c.651+24G>A (n.651+24G>A)
c.267+24G>A (n.267+24G>A)
 gnomAD v3 gnomAD v4
1g.97691696_97691699delCA2574442392DPYDc.762+20_762+23del (n.762+20_762+23del)
n.546_549del
c.651+20_651+23del (n.651+20_651+23del)
c.267+20_267+23del (n.267+20_267+23del)
1g.97691695G>ACA963570DPYDc.762+22C>T (n.762+22C>T)
n.548C>T
c.651+22C>T (n.651+22C>T)
c.267+22C>T (n.267+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691695G=CA1182979291DPYDc.762+22C= (n.762+22C=)
n.548C=
c.651+22C= (n.651+22C=)
c.267+22C= (n.267+22C=)
1g.97691695G>TCA2646707058DPYDc.762+22C>A (n.762+22C>A)
n.548C>A
c.651+22C>A (n.651+22C>A)
c.267+22C>A (n.267+22C>A)
 gnomAD v4
1g.97691696A=CA1182979292DPYDc.762+21T= (n.762+21T=)
n.547T=
c.651+21T= (n.651+21T=)
c.267+21T= (n.267+21T=)
1g.97691696A>GCA2744704836DPYDc.762+21T>C (n.762+21T>C)
n.547T>C
c.651+21T>C (n.651+21T>C)
c.267+21T>C (n.267+21T>C)
1g.97691696A>TCA524790374DPYDc.762+21T>A (n.762+21T>A)
n.547T>A
c.651+21T>A (n.651+21T>A)
c.267+21T>A (n.267+21T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691697T>CCA2646707059DPYDc.762+20A>G (n.762+20A>G)
n.546A>G
c.651+20A>G (n.651+20A>G)
c.267+20A>G (n.267+20A>G)
 gnomAD v4
1g.97691698A>TCA2646707061DPYDc.762+19T>A (n.762+19T>A)
n.545T>A
c.651+19T>A (n.651+19T>A)
c.267+19T>A (n.267+19T>A)
 gnomAD v4
1g.97691698dupCA2646707060DPYDc.762+19dup (n.762+19dup)
n.545dup
c.651+19dup (n.651+19dup)
c.267+19dup (n.267+19dup)
 gnomAD v4
1g.97691699G>ACA2744704837DPYDc.762+18C>T (n.762+18C>T)
n.544C>T
c.651+18C>T (n.651+18C>T)
c.267+18C>T (n.267+18C>T)
1g.97691699G>CCA1182979294DPYDc.762+18C>G (n.762+18C>G)
n.544C>G
c.651+18C>G (n.651+18C>G)
c.267+18C>G (n.267+18C>G)
 dbSNP gnomAD v4
1g.97691699G=CA1182979293DPYDc.762+18C= (n.762+18C=)
n.544C=
c.651+18C= (n.651+18C=)
c.267+18C= (n.267+18C=)
1g.97691699G>TCA2646707062DPYDc.762+18C>A (n.762+18C>A)
n.544C>A
c.651+18C>A (n.651+18C>A)
c.267+18C>A (n.267+18C>A)
 gnomAD v4
1g.97691700G>TCA2646707063DPYDc.762+17C>A (n.762+17C>A)
n.543C>A
c.651+17C>A (n.651+17C>A)
c.267+17C>A (n.267+17C>A)
 gnomAD v4
1g.97691702G=CA1182979296DPYDc.762+15C= (n.762+15C=)
n.541C=
c.651+15C= (n.651+15C=)
c.267+15C= (n.267+15C=)
1g.97691702G>TCA1182979297DPYDc.762+15C>A (n.762+15C>A)
n.541C>A
c.651+15C>A (n.651+15C>A)
c.267+15C>A (n.267+15C>A)
 dbSNP
1g.97691702_97691703delinsGTCA1182979295DPYDc.762+14_762+15delinsAC (n.762+14_762+15delinsAC)
n.540_541delinsAC
c.651+14_651+15delinsAC (n.651+14_651+15delinsAC)
c.267+14_267+15delinsAC (n.267+14_267+15delinsAC)
1g.97691703T>CCA2744704838DPYDc.762+14A>G (n.762+14A>G)
n.540A>G
c.651+14A>G (n.651+14A>G)
c.267+14A>G (n.267+14A>G)
1g.97691709dupCA963571DPYDc.762+14dup (n.762+14dup)
n.540dup
c.651+14dup (n.651+14dup)
c.267+14dup (n.267+14dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691709delCA1004794511DPYDc.762+14del (n.762+14del)
n.540del
c.651+14del (n.651+14del)
c.267+14del (n.267+14del)
 dbSNP gnomAD v3 gnomAD v4
1g.97691704T>ACA2646707064DPYDc.762+13A>T (n.762+13A>T)
n.539A>T
c.651+13A>T (n.651+13A>T)
c.267+13A>T (n.267+13A>T)
 gnomAD v4
1g.97691704T>CCA2646707065DPYDc.762+13A>G (n.762+13A>G)
n.539A>G
c.651+13A>G (n.651+13A>G)
c.267+13A>G (n.267+13A>G)
 gnomAD v4
1g.97691704_97691705insAAGCA2744704839DPYDc.762+12_762+13insCTT (n.762+12_762+13insCTT)
n.538_539insCTT
c.651+12_651+13insCTT (n.651+12_651+13insCTT)
c.267+12_267+13insCTT (n.267+12_267+13insCTT)
1g.97691705T>GCA2646707066DPYDc.762+12A>C (n.762+12A>C)
n.538A>C
c.651+12A>C (n.651+12A>C)
c.267+12A>C (n.267+12A>C)
 gnomAD v4
1g.97691706T>CCA2562149778DPYDc.762+11A>G (n.762+11A>G)
n.537A>G
c.651+11A>G (n.651+11A>G)
c.267+11A>G (n.267+11A>G)
 gnomAD v4
1g.97691707T>ACA2646707067DPYDc.762+10A>T (n.762+10A>T)
n.536A>T
c.651+10A>T (n.651+10A>T)
c.267+10A>T (n.267+10A>T)
 gnomAD v4
1g.97691707T>CCA2646707068DPYDc.762+10A>G (n.762+10A>G)
n.536A>G
c.651+10A>G (n.651+10A>G)
c.267+10A>G (n.267+10A>G)
 gnomAD v4
1g.97691707T>GCA2646707069DPYDc.762+10A>C (n.762+10A>C)
n.536A>C
c.651+10A>C (n.651+10A>C)
c.267+10A>C (n.267+10A>C)
 gnomAD v4
1g.97691708T>ACA1004794513DPYDc.762+9A>T (n.762+9A>T)
n.535A>T
c.651+9A>T (n.651+9A>T)
c.267+9A>T (n.267+9A>T)
 dbSNP gnomAD v3 gnomAD v4
1g.97691708T>CCA740830849DPYDc.762+9A>G (n.762+9A>G)
n.535A>G
c.651+9A>G (n.651+9A>G)
c.267+9A>G (n.267+9A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.97691708T=CA1182979298DPYDc.762+9A= (n.762+9A=)
n.535A=
c.651+9A= (n.651+9A=)
c.267+9A= (n.267+9A=)
1g.97691709T>CCA2646707070DPYDc.762+8A>G (n.762+8A>G)
n.534A>G
c.651+8A>G (n.651+8A>G)
c.267+8A>G (n.267+8A>G)
 gnomAD v4
1g.97691710C>ACA2646707071DPYDc.762+7G>T (n.762+7G>T)
n.533G>T
c.651+7G>T (n.651+7G>T)
c.267+7G>T (n.267+7G>T)
 gnomAD v4
1g.97691710C=CA1182979299DPYDc.762+7G= (n.762+7G=)
n.533G=
c.651+7G= (n.651+7G=)
c.267+7G= (n.267+7G=)
1g.97691710C>TCA524790375DPYDc.762+7G>A (n.762+7G>A)
n.533G>A
c.651+7G>A (n.651+7G>A)
c.267+7G>A (n.267+7G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691711A=CA1182979300DPYDc.762+6T= (n.762+6T=)
n.532T=
c.651+6T= (n.651+6T=)
c.267+6T= (n.267+6T=)
1g.97691711A>CCA1004794514DPYDc.762+6T>G (n.762+6T>G)
n.532T>G
c.651+6T>G (n.651+6T>G)
c.267+6T>G (n.267+6T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.97691711A>GCA524790376DPYDc.762+6T>C (n.762+6T>C)
n.532T>C
c.651+6T>C (n.651+6T>C)
c.267+6T>C (n.267+6T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.97691711A>TCA524790377DPYDc.762+6T>A (n.762+6T>A)
n.532T>A
c.651+6T>A (n.651+6T>A)
c.267+6T>A (n.267+6T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691712T>ACA740830857DPYDc.762+5A>T (n.762+5A>T)
n.531A>T
c.651+5A>T (n.651+5A>T)
c.267+5A>T (n.267+5A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.97691712T>CCA27624661DPYDc.762+5A>G (n.762+5A>G)
n.531A>G
c.651+5A>G (n.651+5A>G)
c.267+5A>G (n.267+5A>G)
 dbSNP
1g.97691712T=CA1182979301DPYDc.762+5A= (n.762+5A=)
n.531A=
c.651+5A= (n.651+5A=)
c.267+5A= (n.267+5A=)
1g.97691715A=CA1182979302DPYDc.762+2T= (n.762+2T=)
n.528T=
c.651+2T= (n.651+2T=)
c.267+2T= (n.267+2T=)
1g.97691715A>CCA341379173DPYDc.762+2T>G (n.762+2T>G)
n.528T>G
c.651+2T>G (n.651+2T>G)
c.267+2T>G (n.267+2T>G)
1g.97691715A>GCA16040812DPYDc.762+2T>C (n.762+2T>C)
n.528T>C
c.651+2T>C (n.651+2T>C)
c.267+2T>C (n.267+2T>C)
 ClinVar dbSNP gnomAD v4
1g.97691715A>TCA341379174DPYDc.762+2T>A (n.762+2T>A)
n.528T>A
c.651+2T>A (n.651+2T>A)
c.267+2T>A (n.267+2T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691716C>ACA341379175DPYDc.762+1G>T (n.762+1G>T)
n.527G>T
c.651+1G>T (n.651+1G>T)
c.267+1G>T (n.267+1G>T)
 gnomAD v4
1g.97691716C=CA1143906682DPYDc.762+1G= (n.762+1G=)
n.527G=
c.651+1G= (n.651+1G=)
c.267+1G= (n.267+1G=)
1g.97691716C>GCA341379176DPYDc.762+1G>C (n.762+1G>C)
n.527G>C
c.651+1G>C (n.651+1G>C)
c.267+1G>C (n.267+1G>C)
 gnomAD v4
1g.97691716C>TCA963572DPYDc.762+1G>A (n.762+1G>A)
n.527G>A
c.651+1G>A (n.651+1G>A)
c.267+1G>A (n.267+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691717C>ACA341379177DPYDc.762G>T (p.Lys254Asn)
n.526G>T
c.651G>T (p.Lys217Asn)
c.267G>T (p.Lys89Asn)
 dbSNP
1g.97691717C=CA1182979303DPYDc.762G= (p.Lys254=)
n.526G=
c.651G= (p.Lys217=)
c.267G= (p.Lys89=)
1g.97691717C>GCA341379178DPYDc.762G>C (p.Lys254Asn)
n.526G>C
c.651G>C (p.Lys217Asn)
c.267G>C (p.Lys89Asn)
1g.97691717C>TCA419147863DPYDc.762G>A (p.Lys254=)
n.526G>A
c.651G>A (p.Lys217=)
c.267G>A (p.Lys89=)
 dbSNP gnomAD v2 gnomAD v4
1g.97691718T>ACA341379179DPYDc.761A>T (p.Lys254Met)
n.525A>T
c.650A>T (p.Lys217Met)
c.266A>T (p.Lys89Met)
1g.97691718T>CCA341379180DPYDc.761A>G (p.Lys254Arg)
n.525A>G
c.650A>G (p.Lys217Arg)
c.266A>G (p.Lys89Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.97691718T>GCA341379181DPYDc.761A>C (p.Lys254Thr)
n.525A>C
c.650A>C (p.Lys217Thr)
c.266A>C (p.Lys89Thr)
1g.97691718T=CA1182979304DPYDc.761A= (p.Lys254=)
n.525A=
c.650A= (p.Lys217=)
c.266A= (p.Lys89=)
1g.97691719T>ACA341379182DPYDc.760A>T (p.Lys254Ter)
n.524A>T
c.649A>T (p.Lys217Ter)
c.265A>T (p.Lys89Ter)
1g.97691719T>CCA341379184DPYDc.760A>G (p.Lys254Glu)
n.524A>G
c.649A>G (p.Lys217Glu)
c.265A>G (p.Lys89Glu)
1g.97691719T>GCA341379183DPYDc.760A>C (p.Lys254Gln)
n.524A>C
c.649A>C (p.Lys217Gln)
c.265A>C (p.Lys89Gln)
1g.97691720T>ACA419147866DPYDc.759A>T (p.Val253=)
n.523A>T
c.648A>T (p.Val216=)
c.264A>T (p.Val88=)
1g.97691720T>CCA419147864DPYDc.759A>G (p.Val253=)
n.523A>G
c.648A>G (p.Val216=)
c.264A>G (p.Val88=)
1g.97691720T>GCA419147865DPYDc.759A>C (p.Val253=)
n.523A>C
c.648A>C (p.Val216=)
c.264A>C (p.Val88=)
1g.97691721A>CCA341379185DPYDc.758T>G (p.Val253Gly)
n.522T>G
c.647T>G (p.Val216Gly)
c.263T>G (p.Val88Gly)
1g.97691721A>GCA341379186DPYDc.758T>C (p.Val253Ala)
n.522T>C
c.647T>C (p.Val216Ala)
c.263T>C (p.Val88Ala)
1g.97691721A>TCA341379187DPYDc.758T>A (p.Val253Glu)
n.522T>A
c.647T>A (p.Val216Glu)
c.263T>A (p.Val88Glu)
1g.97691722C>ACA341379188DPYDc.757G>T (p.Val253Leu)
n.521G>T
c.646G>T (p.Val216Leu)
c.262G>T (p.Val88Leu)
1g.97691722C>GCA341379189DPYDc.757G>C (p.Val253Leu)
n.521G>C
c.646G>C (p.Val216Leu)
c.262G>C (p.Val88Leu)
1g.97691722C>TCA341379190DPYDc.757G>A (p.Val253Ile)
n.521G>A
c.646G>A (p.Val216Ile)
c.262G>A (p.Val88Ile)
1g.97691723A=CA1140088165DPYDc.756T= (p.Gly252=)
n.520T=
c.645T= (p.Gly215=)
c.261T= (p.Gly87=)
1g.97691723A>CCA419147867DPYDc.756T>G (p.Gly252=)
n.520T>G
c.645T>G (p.Gly215=)
c.261T>G (p.Gly87=)
1g.97691723A>GCA27624667DPYDc.756T>C (p.Gly252=)
n.520T>C
c.645T>C (p.Gly215=)
c.261T>C (p.Gly87=)
 dbSNP gnomAD v4
1g.97691723A>TCA419147868DPYDc.756T>A (p.Gly252=)
n.520T>A
c.645T>A (p.Gly215=)
c.261T>A (p.Gly87=)
1g.97691724C>ACA341379191DPYDc.755G>T (p.Gly252Val)
n.519G>T
c.644G>T (p.Gly215Val)
c.260G>T (p.Gly87Val)
 gnomAD v4 COSMIC
1g.97691724C=CA1182979305DPYDc.755G= (p.Gly252=)
n.519G=
c.644G= (p.Gly215=)
c.260G= (p.Gly87=)
1g.97691724C>GCA341379192DPYDc.755G>C (p.Gly252Ala)
n.519G>C
c.644G>C (p.Gly215Ala)
c.260G>C (p.Gly87Ala)
 dbSNP
1g.97691724C>TCA341379193DPYDc.755G>A (p.Gly252Asp)
n.519G>A
c.644G>A (p.Gly215Asp)
c.260G>A (p.Gly87Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97691725C>ACA963573DPYDc.754G>T (p.Gly252Cys)
n.518G>T
c.643G>T (p.Gly215Cys)
c.259G>T (p.Gly87Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691725C=CA1182979306DPYDc.754G= (p.Gly252=)
n.518G=
c.643G= (p.Gly215=)
c.259G= (p.Gly87=)
1g.97691725C>GCA341379194DPYDc.754G>C (p.Gly252Arg)
n.518G>C
c.643G>C (p.Gly215Arg)
c.259G>C (p.Gly87Arg)
 gnomAD v4
1g.97691725C>TCA341379195DPYDc.754G>A (p.Gly252Ser)
n.518G>A
c.643G>A (p.Gly215Ser)
c.259G>A (p.Gly87Ser)
 dbSNP
1g.97691726A>CCA419147869DPYDc.753T>G (p.Leu251=)
n.517T>G
c.642T>G (p.Leu214=)
c.258T>G (p.Leu86=)
1g.97691726A>GCA419147870DPYDc.753T>C (p.Leu251=)
n.517T>C
c.642T>C (p.Leu214=)
c.258T>C (p.Leu86=)
 gnomAD v4
1g.97691726A>TCA419147871DPYDc.753T>A (p.Leu251=)
n.517T>A
c.642T>A (p.Leu214=)
c.258T>A (p.Leu86=)
 COSMIC
1g.97691727A>CCA341379196DPYDc.752T>G (p.Leu251Arg)
n.516T>G
c.641T>G (p.Leu214Arg)
c.257T>G (p.Leu86Arg)
1g.97691727A>GCA341379198DPYDc.752T>C (p.Leu251Pro)
n.516T>C
c.641T>C (p.Leu214Pro)
c.257T>C (p.Leu86Pro)
1g.97691727A>TCA341379197DPYDc.752T>A (p.Leu251His)
n.516T>A
c.641T>A (p.Leu214His)
c.257T>A (p.Leu86His)
1g.97691728G>ACA341379199DPYDc.751C>T (p.Leu251Phe)
n.515C>T
c.640C>T (p.Leu214Phe)
c.256C>T (p.Leu86Phe)
 gnomAD v4
1g.97691728G>CCA341379200DPYDc.751C>G (p.Leu251Val)
n.515C>G
c.640C>G (p.Leu214Val)
c.256C>G (p.Leu86Val)
 gnomAD v4
1g.97691728G>TCA341379201DPYDc.751C>A (p.Leu251Ile)
n.515C>A
c.640C>A (p.Leu214Ile)
c.256C>A (p.Leu86Ile)
1g.97691729G>ACA419147872DPYDc.750C>T (p.Asp250=)
n.514C>T
c.639C>T (p.Asp213=)
c.255C>T (p.Asp85=)
1g.97691729G>CCA341379202DPYDc.750C>G (p.Asp250Glu)
n.514C>G
c.639C>G (p.Asp213Glu)
c.255C>G (p.Asp85Glu)
1g.97691729G>TCA341379203DPYDc.750C>A (p.Asp250Glu)
n.514C>A
c.639C>A (p.Asp213Glu)
c.255C>A (p.Asp85Glu)
1g.97691730T>ACA341379204DPYDc.749A>T (p.Asp250Val)
n.513A>T
c.638A>T (p.Asp213Val)
c.254A>T (p.Asp85Val)
1g.97691730T>CCA341379205DPYDc.749A>G (p.Asp250Gly)
n.513A>G
c.638A>G (p.Asp213Gly)
c.254A>G (p.Asp85Gly)
1g.97691730T>GCA341379206DPYDc.749A>C (p.Asp250Ala)
n.513A>C
c.638A>C (p.Asp213Ala)
c.254A>C (p.Asp85Ala)
 gnomAD v4
1g.97691731C>ACA341379207DPYDc.748G>T (p.Asp250Tyr)
n.512G>T
c.637G>T (p.Asp213Tyr)
c.253G>T (p.Asp85Tyr)
1g.97691731C>GCA341379208DPYDc.748G>C (p.Asp250His)
n.512G>C
c.637G>C (p.Asp213His)
c.253G>C (p.Asp85His)
1g.97691731C>TCA341379209DPYDc.748G>A (p.Asp250Asn)
n.512G>A
c.637G>A (p.Asp213Asn)
c.253G>A (p.Asp85Asn)
1g.97691732C>ACA341379210DPYDc.747G>T (p.Lys249Asn)
n.511G>T
c.636G>T (p.Lys212Asn)
c.252G>T (p.Lys84Asn)
1g.97691732C=CA1182979307DPYDc.747G= (p.Lys249=)
n.511G=
c.636G= (p.Lys212=)
c.252G= (p.Lys84=)
1g.97691732C>GCA341379211DPYDc.747G>C (p.Lys249Asn)
n.511G>C
c.636G>C (p.Lys212Asn)
c.252G>C (p.Lys84Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.97691732C>TCA419147873DPYDc.747G>A (p.Lys249=)
n.511G>A
c.636G>A (p.Lys212=)
c.252G>A (p.Lys84=)
1g.97691733T>ACA341379212DPYDc.746A>T (p.Lys249Met)
n.510A>T
c.635A>T (p.Lys212Met)
c.251A>T (p.Lys84Met)
1g.97691733T>CCA341379214DPYDc.746A>G (p.Lys249Arg)
n.510A>G
c.635A>G (p.Lys212Arg)
c.251A>G (p.Lys84Arg)
1g.97691733T>GCA341379213DPYDc.746A>C (p.Lys249Thr)
n.510A>C
c.635A>C (p.Lys212Thr)
c.251A>C (p.Lys84Thr)
1g.97691734T>ACA341379215DPYDc.745A>T (p.Lys249Ter)
n.509A>T
c.634A>T (p.Lys212Ter)
c.250A>T (p.Lys84Ter)
 gnomAD v4
1g.97691734T>CCA341379217DPYDc.745A>G (p.Lys249Glu)
n.509A>G
c.634A>G (p.Lys212Glu)
c.250A>G (p.Lys84Glu)
1g.97691734T>GCA341379216DPYDc.745A>C (p.Lys249Gln)
n.509A>C
c.634A>C (p.Lys212Gln)
c.250A>C (p.Lys84Gln)
1g.97691735C>ACA341379218DPYDc.744G>T (p.Met248Ile)
n.508G>T
c.633G>T (p.Met211Ile)
c.249G>T (p.Met83Ile)
1g.97691735C=CA1182979308DPYDc.744G= (p.Met248=)
n.508G=
c.633G= (p.Met211=)
c.249G= (p.Met83=)
1g.97691735C>GCA341379220DPYDc.744G>C (p.Met248Ile)
n.508G>C
c.633G>C (p.Met211Ile)
c.249G>C (p.Met83Ile)
1g.97691735C>TCA341379219DPYDc.744G>A (p.Met248Ile)
n.508G>A
c.633G>A (p.Met211Ile)
c.249G>A (p.Met83Ile)
 dbSNP
1g.97691736A>CCA341379221DPYDc.743T>G (p.Met248Arg)
n.507T>G
c.632T>G (p.Met211Arg)
c.248T>G (p.Met83Arg)
1g.97691736A>GCA341379222DPYDc.743T>C (p.Met248Thr)
n.507T>C
c.632T>C (p.Met211Thr)
c.248T>C (p.Met83Thr)
 gnomAD v4
1g.97691736A>TCA341379223DPYDc.743T>A (p.Met248Lys)
n.507T>A
c.632T>A (p.Met211Lys)
c.248T>A (p.Met83Lys)
 COSMIC
1g.97691737T>ACA341379224DPYDc.742A>T (p.Met248Leu)
n.506A>T
c.631A>T (p.Met211Leu)
c.247A>T (p.Met83Leu)
1g.97691737T>CCA341379225DPYDc.742A>G (p.Met248Val)
n.506A>G
c.631A>G (p.Met211Val)
c.247A>G (p.Met83Val)
1g.97691737T>GCA341379226DPYDc.742A>C (p.Met248Leu)
n.506A>C
c.631A>C (p.Met211Leu)
c.247A>C (p.Met83Leu)
1g.97691738T>ACA419147876DPYDc.741A>T (p.Leu247=)
n.505A>T
c.630A>T (p.Leu210=)
c.246A>T (p.Leu82=)
1g.97691738T>CCA419147877DPYDc.741A>G (p.Leu247=)
n.505A>G
c.630A>G (p.Leu210=)
c.246A>G (p.Leu82=)
1g.97691738T>GCA419147878DPYDc.741A>C (p.Leu247=)
n.505A>C
c.630A>C (p.Leu210=)
c.246A>C (p.Leu82=)
1g.97691739A>CCA341379227DPYDc.740T>G (p.Leu247Arg)
n.504T>G
c.629T>G (p.Leu210Arg)
c.245T>G (p.Leu82Arg)
1g.97691739A>GCA341379228DPYDc.740T>C (p.Leu247Pro)
n.504T>C
c.629T>C (p.Leu210Pro)
c.245T>C (p.Leu82Pro)
1g.97691739A>TCA341379229DPYDc.740T>A (p.Leu247Gln)
n.504T>A
c.629T>A (p.Leu210Gln)
c.245T>A (p.Leu82Gln)
1g.97691740G>ACA963574DPYDc.739C>T (p.Leu247=)
n.503C>T
c.628C>T (p.Leu210=)
c.244C>T (p.Leu82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691740G>CCA341379230DPYDc.739C>G (p.Leu247Val)
n.503C>G
c.628C>G (p.Leu210Val)
c.244C>G (p.Leu82Val)
1g.97691740G=CA1144106224DPYDc.739C= (p.Leu247=)
n.503C=
c.628C= (p.Leu210=)
c.244C= (p.Leu82=)
1g.97691740G>TCA963575DPYDc.739C>A (p.Leu247Ile)
n.503C>A
c.628C>A (p.Leu210Ile)
c.244C>A (p.Leu82Ile)
 dbSNP ExAC gnomAD v2
1g.97691741C>ACA341379231DPYDc.738G>T (p.Glu246Asp)
n.502G>T
c.627G>T (p.Glu209Asp)
c.243G>T (p.Glu81Asp)
1g.97691741C>GCA341379232DPYDc.738G>C (p.Glu246Asp)
n.502G>C
c.627G>C (p.Glu209Asp)
c.243G>C (p.Glu81Asp)
1g.97691741C>TCA419147880DPYDc.738G>A (p.Glu246=)
n.502G>A
c.627G>A (p.Glu209=)
c.243G>A (p.Glu81=)
1g.97691742T>ACA341379233DPYDc.737A>T (p.Glu246Val)
n.501A>T
c.626A>T (p.Glu209Val)
c.242A>T (p.Glu81Val)
1g.97691742T>CCA341379234DPYDc.737A>G (p.Glu246Gly)
n.501A>G
c.626A>G (p.Glu209Gly)
c.242A>G (p.Glu81Gly)
1g.97691742T>GCA341379235DPYDc.737A>C (p.Glu246Ala)
n.501A>C
c.626A>C (p.Glu209Ala)
c.242A>C (p.Glu81Ala)
1g.97691743C>ACA341379236DPYDc.736G>T (p.Glu246Ter)
n.500G>T
c.625G>T (p.Glu209Ter)
c.241G>T (p.Glu81Ter)
1g.97691743C>GCA341379237DPYDc.736G>C (p.Glu246Gln)
n.500G>C
c.625G>C (p.Glu209Gln)
c.241G>C (p.Glu81Gln)
 gnomAD v4
1g.97691743C>TCA341379238DPYDc.736G>A (p.Glu246Lys)
n.500G>A
c.625G>A (p.Glu209Lys)
c.241G>A (p.Glu81Lys)
1g.97691744A>CCA341379239DPYDc.735T>G (p.Ile245Met)
n.499T>G
c.624T>G (p.Ile208Met)
c.240T>G (p.Ile80Met)
1g.97691744A>GCA419147881DPYDc.735T>C (p.Ile245=)
n.499T>C
c.624T>C (p.Ile208=)
c.240T>C (p.Ile80=)
1g.97691744A>TCA419147882DPYDc.735T>A (p.Ile245=)
n.499T>A
c.624T>A (p.Ile208=)
c.240T>A (p.Ile80=)
1g.97691745A>CCA341379240DPYDc.734T>G (p.Ile245Ser)
n.498T>G
c.623T>G (p.Ile208Ser)
c.239T>G (p.Ile80Ser)
1g.97691745A>GCA341379241DPYDc.734T>C (p.Ile245Thr)
n.498T>C
c.623T>C (p.Ile208Thr)
c.239T>C (p.Ile80Thr)
 gnomAD v4
1g.97691745A>TCA341379242DPYDc.734T>A (p.Ile245Asn)
n.498T>A
c.623T>A (p.Ile208Asn)
c.239T>A (p.Ile80Asn)
1g.97691746T>ACA341379244DPYDc.733A>T (p.Ile245Phe)
n.497A>T
c.622A>T (p.Ile208Phe)
c.238A>T (p.Ile80Phe)
 dbSNP gnomAD v4
1g.97691746T>CCA963576DPYDc.733A>G (p.Ile245Val)
n.497A>G
c.622A>G (p.Ile208Val)
c.238A>G (p.Ile80Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691746T>GCA341379243DPYDc.733A>C (p.Ile245Leu)
n.497A>C
c.622A>C (p.Ile208Leu)
c.238A>C (p.Ile80Leu)
1g.97691746T=CA1182979309DPYDc.733A= (p.Ile245=)
n.497A=
c.622A= (p.Ile208=)
c.238A= (p.Ile80=)
1g.97691747C>ACA341379245DPYDc.732G>T (p.Glu244Asp)
n.496G>T
c.621G>T (p.Glu207Asp)
c.237G>T (p.Glu79Asp)
 COSMIC
1g.97691747C>GCA341379246DPYDc.732G>C (p.Glu244Asp)
n.496G>C
c.621G>C (p.Glu207Asp)
c.237G>C (p.Glu79Asp)
1g.97691747C>TCA419147883DPYDc.732G>A (p.Glu244=)
n.496G>A
c.621G>A (p.Glu207=)
c.237G>A (p.Glu79=)
1g.97691748T>ACA341379247DPYDc.731A>T (p.Glu244Val)
n.495A>T
c.620A>T (p.Glu207Val)
c.236A>T (p.Glu79Val)
1g.97691748T>CCA341379248DPYDc.731A>G (p.Glu244Gly)
n.495A>G
c.620A>G (p.Glu207Gly)
c.236A>G (p.Glu79Gly)
1g.97691748T>GCA341379249DPYDc.731A>C (p.Glu244Ala)
n.495A>C
c.620A>C (p.Glu207Ala)
c.236A>C (p.Glu79Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97691748T=CA1182979310DPYDc.731A= (p.Glu244=)
n.495A=
c.620A= (p.Glu207=)
c.236A= (p.Glu79=)
1g.97691749C>ACA341379252DPYDc.730G>T (p.Glu244Ter)
n.494G>T
c.619G>T (p.Glu207Ter)
c.235G>T (p.Glu79Ter)
1g.97691749C>GCA341379250DPYDc.730G>C (p.Glu244Gln)
n.494G>C
c.619G>C (p.Glu207Gln)
c.235G>C (p.Glu79Gln)
1g.97691749C>TCA341379251DPYDc.730G>A (p.Glu244Lys)
n.494G>A
c.619G>A (p.Glu207Lys)
c.235G>A (p.Glu79Lys)
1g.97691750A>CCA341379253DPYDc.729T>G (p.Phe243Leu)
n.493T>G
c.618T>G (p.Phe206Leu)
c.234T>G (p.Phe78Leu)
 gnomAD v4
1g.97691750A>GCA419147884DPYDc.729T>C (p.Phe243=)
n.493T>C
c.618T>C (p.Phe206=)
c.234T>C (p.Phe78=)
1g.97691750A>TCA341379254DPYDc.729T>A (p.Phe243Leu)
n.493T>A
c.618T>A (p.Phe206Leu)
c.234T>A (p.Phe78Leu)
1g.97691751A>CCA341379255DPYDc.728T>G (p.Phe243Cys)
n.492T>G
c.617T>G (p.Phe206Cys)
c.233T>G (p.Phe78Cys)
1g.97691751A>GCA341379256DPYDc.728T>C (p.Phe243Ser)
n.492T>C
c.617T>C (p.Phe206Ser)
c.233T>C (p.Phe78Ser)
1g.97691751A>TCA341379257DPYDc.728T>A (p.Phe243Tyr)
n.492T>A
c.617T>A (p.Phe206Tyr)
c.233T>A (p.Phe78Tyr)
1g.97691752A=CA1182979311DPYDc.727T= (p.Phe243=)
n.491T=
c.616T= (p.Phe206=)
c.232T= (p.Phe78=)
1g.97691752A>CCA341379258DPYDc.727T>G (p.Phe243Val)
n.491T>G
c.616T>G (p.Phe206Val)
c.232T>G (p.Phe78Val)
 dbSNP gnomAD v3 gnomAD v4
1g.97691752A>GCA341379260DPYDc.727T>C (p.Phe243Leu)
n.491T>C
c.616T>C (p.Phe206Leu)
c.232T>C (p.Phe78Leu)
1g.97691752A>TCA341379259DPYDc.727T>A (p.Phe243Ile)
n.491T>A
c.616T>A (p.Phe206Ile)
c.232T>A (p.Phe78Ile)
1g.97691753A>CCA341379261DPYDc.726T>G (p.Asn242Lys)
n.490T>G
c.615T>G (p.Asn205Lys)
c.231T>G (p.Asn77Lys)
1g.97691753A>GCA419147885DPYDc.726T>C (p.Asn242=)
n.490T>C
c.615T>C (p.Asn205=)
c.231T>C (p.Asn77=)
1g.97691753A>TCA341379262DPYDc.726T>A (p.Asn242Lys)
n.490T>A
c.615T>A (p.Asn205Lys)
c.231T>A (p.Asn77Lys)
1g.97691754T>ACA341379263DPYDc.725A>T (p.Asn242Ile)
n.489A>T
c.614A>T (p.Asn205Ile)
c.230A>T (p.Asn77Ile)
 gnomAD v4
1g.97691754T>CCA341379264DPYDc.725A>G (p.Asn242Ser)
n.489A>G
c.614A>G (p.Asn205Ser)
c.230A>G (p.Asn77Ser)
 gnomAD v4
1g.97691754T>GCA341379265DPYDc.725A>C (p.Asn242Thr)
n.489A>C
c.614A>C (p.Asn205Thr)
c.230A>C (p.Asn77Thr)
1g.97691755T>ACA341379266DPYDc.724A>T (p.Asn242Tyr)
n.488A>T
c.613A>T (p.Asn205Tyr)
c.229A>T (p.Asn77Tyr)
1g.97691755T>CCA341379267DPYDc.724A>G (p.Asn242Asp)
n.488A>G
c.613A>G (p.Asn205Asp)
c.229A>G (p.Asn77Asp)
 gnomAD v4
1g.97691755T>GCA341379268DPYDc.724A>C (p.Asn242His)
n.488A>C
c.613A>C (p.Asn205His)
c.229A>C (p.Asn77His)
1g.97691756C>ACA419147886DPYDc.723G>T (p.Val241=)
n.487G>T
c.612G>T (p.Val204=)
c.228G>T (p.Val76=)
1g.97691756C>GCA419147887DPYDc.723G>C (p.Val241=)
n.487G>C
c.612G>C (p.Val204=)
c.228G>C (p.Val76=)
1g.97691756C>TCA419147888DPYDc.723G>A (p.Val241=)
n.487G>A
c.612G>A (p.Val204=)
c.228G>A (p.Val76=)
1g.97691757A=CA1182979312DPYDc.722T= (p.Val241=)
n.486T=
c.611T= (p.Val204=)
c.227T= (p.Val76=)
1g.97691757A>CCA341379269DPYDc.722T>G (p.Val241Gly)
n.486T>G
c.611T>G (p.Val204Gly)
c.227T>G (p.Val76Gly)
1g.97691757A>GCA341379270DPYDc.722T>C (p.Val241Ala)
n.486T>C
c.611T>C (p.Val204Ala)
c.227T>C (p.Val76Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.97691757A>TCA341379271DPYDc.722T>A (p.Val241Glu)
n.486T>A
c.611T>A (p.Val204Glu)
c.227T>A (p.Val76Glu)
1g.97691758C>ACA341379274DPYDc.721G>T (p.Val241Leu)
n.485G>T
c.610G>T (p.Val204Leu)
c.226G>T (p.Val76Leu)
1g.97691758C>GCA341379273DPYDc.721G>C (p.Val241Leu)
n.485G>C
c.610G>C (p.Val204Leu)
c.226G>C (p.Val76Leu)
1g.97691758C>TCA341379272DPYDc.721G>A (p.Val241Met)
n.485G>A
c.610G>A (p.Val204Met)
c.226G>A (p.Val76Met)
1g.97691759T>ACA419147889DPYDc.720A>T (p.Val240=)
n.484A>T
c.609A>T (p.Val203=)
c.225A>T (p.Val75=)
 gnomAD v4
1g.97691759T>CCA419147890DPYDc.720A>G (p.Val240=)
n.484A>G
c.609A>G (p.Val203=)
c.225A>G (p.Val75=)
 dbSNP gnomAD v4
1g.97691759T>GCA419147891DPYDc.720A>C (p.Val240=)
n.484A>C
c.609A>C (p.Val203=)
c.225A>C (p.Val75=)
1g.97691759T=CA1182979313DPYDc.720A= (p.Val240=)
n.484A=
c.609A= (p.Val203=)
c.225A= (p.Val75=)
1g.97691760A>CCA341379275DPYDc.719T>G (p.Val240Gly)
n.483T>G
c.608T>G (p.Val203Gly)
c.224T>G (p.Val75Gly)
1g.97691760A>GCA341379277DPYDc.719T>C (p.Val240Ala)
n.483T>C
c.608T>C (p.Val203Ala)
c.224T>C (p.Val75Ala)
1g.97691760A>TCA341379276DPYDc.719T>A (p.Val240Glu)
n.483T>A
c.608T>A (p.Val203Glu)
c.224T>A (p.Val75Glu)
1g.97691761C>ACA341379278DPYDc.718G>T (p.Val240Leu)
n.482G>T
c.607G>T (p.Val203Leu)
c.223G>T (p.Val75Leu)
1g.97691761C=CA1182979314DPYDc.718G= (p.Val240=)
n.482G=
c.607G= (p.Val203=)
c.223G= (p.Val75=)
1g.97691761C>GCA341379279DPYDc.718G>C (p.Val240Leu)
n.482G>C
c.607G>C (p.Val203Leu)
c.223G>C (p.Val75Leu)
1g.97691761C>TCA341379280DPYDc.718G>A (p.Val240Ile)
n.482G>A
c.607G>A (p.Val203Ile)
c.223G>A (p.Val75Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97691762A=CA1182979315DPYDc.717T= (p.Asp239=)
n.481T=
c.606T= (p.Asp202=)
c.222T= (p.Asp74=)
1g.97691762A>CCA341379281DPYDc.717T>G (p.Asp239Glu)
n.481T>G
c.606T>G (p.Asp202Glu)
c.222T>G (p.Asp74Glu)
 dbSNP gnomAD v4
1g.97691762A>GCA419147892DPYDc.717T>C (p.Asp239=)
n.481T>C
c.606T>C (p.Asp202=)
c.222T>C (p.Asp74=)
1g.97691762A>TCA341379282DPYDc.717T>A (p.Asp239Glu)
n.481T>A
c.606T>A (p.Asp202Glu)
c.222T>A (p.Asp74Glu)
1g.97691763T>ACA341379283DPYDc.716A>T (p.Asp239Val)
n.480A>T
c.605A>T (p.Asp202Val)
c.221A>T (p.Asp74Val)
 gnomAD v4
1g.97691763T>CCA341379284DPYDc.716A>G (p.Asp239Gly)
n.480A>G
c.605A>G (p.Asp202Gly)
c.221A>G (p.Asp74Gly)
1g.97691763T>GCA341379285DPYDc.716A>C (p.Asp239Ala)
n.480A>C
c.605A>C (p.Asp202Ala)
c.221A>C (p.Asp74Ala)
1g.97691764C>ACA341379286DPYDc.715G>T (p.Asp239Tyr)
n.479G>T
c.604G>T (p.Asp202Tyr)
c.220G>T (p.Asp74Tyr)
1g.97691764C=CA1182979316DPYDc.715G= (p.Asp239=)
n.479G=
c.604G= (p.Asp202=)
c.220G= (p.Asp74=)
1g.97691764C>GCA341379287DPYDc.715G>C (p.Asp239His)
n.479G>C
c.604G>C (p.Asp202His)
c.220G>C (p.Asp74His)
1g.97691764C>TCA963577DPYDc.715G>A (p.Asp239Asn)
n.479G>A
c.604G>A (p.Asp202Asn)
c.220G>A (p.Asp74Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691765A>CCA341379288DPYDc.714T>G (p.Tyr238Ter)
n.478T>G
c.603T>G (p.Tyr201Ter)
c.219T>G (p.Tyr73Ter)
1g.97691765A>GCA419147893DPYDc.714T>C (p.Tyr238=)
n.478T>C
c.603T>C (p.Tyr201=)
c.219T>C (p.Tyr73=)
1g.97691765A>TCA341379289DPYDc.714T>A (p.Tyr238Ter)
n.478T>A
c.603T>A (p.Tyr201Ter)
c.219T>A (p.Tyr73Ter)
1g.97691766T>ACA341379290DPYDc.713A>T (p.Tyr238Phe)
n.477A>T
c.602A>T (p.Tyr201Phe)
c.218A>T (p.Tyr73Phe)
1g.97691766T>CCA341379292DPYDc.713A>G (p.Tyr238Cys)
n.477A>G
c.602A>G (p.Tyr201Cys)
c.218A>G (p.Tyr73Cys)
 dbSNP
1g.97691766T>GCA341379291DPYDc.713A>C (p.Tyr238Ser)
n.477A>C
c.602A>C (p.Tyr201Ser)
c.218A>C (p.Tyr73Ser)
1g.97691766T=CA1182979317DPYDc.713A= (p.Tyr238=)
n.477A=
c.602A= (p.Tyr201=)
c.218A= (p.Tyr73=)
1g.97691767A>CCA341379293DPYDc.712T>G (p.Tyr238Asp)
n.476T>G
c.601T>G (p.Tyr201Asp)
c.217T>G (p.Tyr73Asp)
1g.97691767A>GCA341379294DPYDc.712T>C (p.Tyr238His)
n.476T>C
c.601T>C (p.Tyr201His)
c.217T>C (p.Tyr73His)
1g.97691767A>TCA341379295DPYDc.712T>A (p.Tyr238Asn)
n.476T>A
c.601T>A (p.Tyr201Asn)
c.217T>A (p.Tyr73Asn)
 COSMIC
1g.97691767dupCA2646707072DPYDc.712dup (p.Tyr238LeufsTer2)
n.476dup
c.601dup (p.Tyr201LeufsTer2)
c.217dup (p.Tyr73LeufsTer2)
 gnomAD v4
1g.97691768C>ACA419147894DPYDc.711G>T (p.Pro237=)
n.475G>T
c.600G>T (p.Pro200=)
c.216G>T (p.Pro72=)
1g.97691768C=CA1141707034DPYDc.711G= (p.Pro237=)
n.475G=
c.600G= (p.Pro200=)
c.216G= (p.Pro72=)
1g.97691768C>GCA419147895DPYDc.711G>C (p.Pro237=)
n.475G>C
c.600G>C (p.Pro200=)
c.216G>C (p.Pro72=)
 gnomAD v4
1g.97691768C>TCA963578DPYDc.711G>A (p.Pro237=)
n.475G>A
c.600G>A (p.Pro200=)
c.216G>A (p.Pro72=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691769G>ACA963579DPYDc.710C>T (p.Pro237Leu)
n.474C>T
c.599C>T (p.Pro200Leu)
c.215C>T (p.Pro72Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691769G>CCA341379296DPYDc.710C>G (p.Pro237Arg)
n.474C>G
c.599C>G (p.Pro200Arg)
c.215C>G (p.Pro72Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.97691769G=CA1182979318DPYDc.710C= (p.Pro237=)
n.474C=
c.599C= (p.Pro200=)
c.215C= (p.Pro72=)
1g.97691769G>TCA341379297DPYDc.710C>A (p.Pro237Gln)
n.474C>A
c.599C>A (p.Pro200Gln)
c.215C>A (p.Pro72Gln)
1g.97691770G>ACA27624698DPYDc.709C>T (p.Pro237Ser)
n.473C>T
c.598C>T (p.Pro200Ser)
c.214C>T (p.Pro72Ser)
 dbSNP
1g.97691770G>CCA341379298DPYDc.709C>G (p.Pro237Ala)
n.473C>G
c.598C>G (p.Pro200Ala)
c.214C>G (p.Pro72Ala)
1g.97691770G=CA1143538179DPYDc.709C= (p.Pro237=)
n.473C=
c.598C= (p.Pro200=)
c.214C= (p.Pro72=)
1g.97691770G>TCA341379299DPYDc.709C>A (p.Pro237Thr)
n.473C>A
c.598C>A (p.Pro200Thr)
c.214C>A (p.Pro72Thr)
1g.97691771C>ACA419147896DPYDc.708G>T (p.Leu236=)
n.472G>T
c.597G>T (p.Leu199=)
c.213G>T (p.Leu71=)
1g.97691771C=CA1182979319DPYDc.708G= (p.Leu236=)
n.472G=
c.597G= (p.Leu199=)
c.213G= (p.Leu71=)
1g.97691771C>GCA419147897DPYDc.708G>C (p.Leu236=)
n.472G>C
c.597G>C (p.Leu199=)
c.213G>C (p.Leu71=)
1g.97691771C>TCA419147898DPYDc.708G>A (p.Leu236=)
n.472G>A
c.597G>A (p.Leu199=)
c.213G>A (p.Leu71=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97691772A>CCA341379302DPYDc.707T>G (p.Leu236Arg)
n.471T>G
c.596T>G (p.Leu199Arg)
c.212T>G (p.Leu71Arg)
1g.97691772A>GCA341379301DPYDc.707T>C (p.Leu236Pro)
n.471T>C
c.596T>C (p.Leu199Pro)
c.212T>C (p.Leu71Pro)
1g.97691772A>TCA341379300DPYDc.707T>A (p.Leu236Gln)
n.471T>A
c.596T>A (p.Leu199Gln)
c.212T>A (p.Leu71Gln)
1g.97691773G>ACA419147899DPYDc.706C>T (p.Leu236=)
n.470C>T
c.595C>T (p.Leu199=)
c.211C>T (p.Leu71=)
1g.97691773G>CCA341379303DPYDc.706C>G (p.Leu236Val)
n.470C>G
c.595C>G (p.Leu199Val)
c.211C>G (p.Leu71Val)
 gnomAD v4
1g.97691773G>TCA341379304DPYDc.706C>A (p.Leu236Met)
n.470C>A
c.595C>A (p.Leu199Met)
c.211C>A (p.Leu71Met)
1g.97691774C>ACA419147900DPYDc.705G>T (p.Arg235=)
n.469G>T
c.594G>T (p.Arg198=)
c.210G>T (p.Arg70=)
1g.97691774C=CA1182979320DPYDc.705G= (p.Arg235=)
n.469G=
c.594G= (p.Arg198=)
c.210G= (p.Arg70=)
1g.97691774C>GCA419147901DPYDc.705G>C (p.Arg235=)
n.469G>C
c.594G>C (p.Arg198=)
c.210G>C (p.Arg70=)
1g.97691774C>TCA963580DPYDc.705G>A (p.Arg235=)
n.469G>A
c.594G>A (p.Arg198=)
c.210G>A (p.Arg70=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691775C>ACA341379305DPYDc.704G>T (p.Arg235Leu)
n.468G>T
c.593G>T (p.Arg198Leu)
c.209G>T (p.Arg70Leu)
 gnomAD v4
1g.97691775C=CA1182979321DPYDc.704G= (p.Arg235=)
n.468G=
c.593G= (p.Arg198=)
c.209G= (p.Arg70=)
1g.97691775C>GCA341379306DPYDc.704G>C (p.Arg235Pro)
n.468G>C
c.593G>C (p.Arg198Pro)
c.209G>C (p.Arg70Pro)
1g.97691775C>TCA963581DPYDc.704G>A (p.Arg235Gln)
n.468G>A
c.593G>A (p.Arg198Gln)
c.209G>A (p.Arg70Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691776G>ACA963582DPYDc.703C>T (p.Arg235Trp)
n.467C>T
c.592C>T (p.Arg198Trp)
c.208C>T (p.Arg70Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97691776G>CCA341379307DPYDc.703C>G (p.Arg235Gly)
n.467C>G
c.592C>G (p.Arg198Gly)
c.208C>G (p.Arg70Gly)
 gnomAD v4
1g.97691776G=CA1139894828DPYDc.703C= (p.Arg235=)
n.467C=
c.592C= (p.Arg198=)
c.208C= (p.Arg70=)
1g.97691776G>TCA419147902DPYDc.703C>A (p.Arg235=)
n.467C>A
c.592C>A (p.Arg198=)
c.208C>A (p.Arg70=)
1g.97691777G>ACA419147903DPYDc.702C>T (p.Phe234=)
n.466C>T
c.591C>T (p.Phe197=)
c.207C>T (p.Phe69=)
1g.97691777G>CCA341379308DPYDc.702C>G (p.Phe234Leu)
n.466C>G
c.591C>G (p.Phe197Leu)
c.207C>G (p.Phe69Leu)
 gnomAD v4
1g.97691777G>TCA341379309DPYDc.702C>A (p.Phe234Leu)
n.466C>A
c.591C>A (p.Phe197Leu)
c.207C>A (p.Phe69Leu)
 gnomAD v4
1g.97691778A>CCA341379310DPYDc.701T>G (p.Phe234Cys)
n.465T>G
c.590T>G (p.Phe197Cys)
c.206T>G (p.Phe69Cys)
1g.97691778A>GCA341379311DPYDc.701T>C (p.Phe234Ser)
n.465T>C
c.590T>C (p.Phe197Ser)
c.206T>C (p.Phe69Ser)
1g.97691778A>TCA341379312DPYDc.701T>A (p.Phe234Tyr)
n.465T>A
c.590T>A (p.Phe197Tyr)
c.206T>A (p.Phe69Tyr)
1g.97691779A>CCA341379315DPYDc.700T>G (p.Phe234Val)
n.464T>G
c.589T>G (p.Phe197Val)
c.205T>G (p.Phe69Val)
1g.97691779A>GCA341379313DPYDc.700T>C (p.Phe234Leu)
n.464T>C
c.589T>C (p.Phe197Leu)
c.205T>C (p.Phe69Leu)
1g.97691779A>TCA341379314DPYDc.700T>A (p.Phe234Ile)
n.464T>A
c.589T>A (p.Phe197Ile)
c.205T>A (p.Phe69Ile)
1g.97691780C>ACA341379316DPYDc.699G>T (p.Gln233His)
n.463G>T
c.588G>T (p.Gln196His)
c.204G>T (p.Gln68His)
1g.97691780C>GCA341379317DPYDc.699G>C (p.Gln233His)
n.463G>C
c.588G>C (p.Gln196His)
c.204G>C (p.Gln68His)
1g.97691780C>TCA419147904DPYDc.699G>A (p.Gln233=)
n.463G>A
c.588G>A (p.Gln196=)
c.204G>A (p.Gln68=)
1g.97691781T>ACA341379318DPYDc.698A>T (p.Gln233Leu)
n.462A>T
c.587A>T (p.Gln196Leu)
c.203A>T (p.Gln68Leu)
1g.97691781T>CCA341379319DPYDc.698A>G (p.Gln233Arg)
n.462A>G
c.587A>G (p.Gln196Arg)
c.203A>G (p.Gln68Arg)
 dbSNP
1g.97691781T>GCA341379320DPYDc.698A>C (p.Gln233Pro)
n.462A>C
c.587A>C (p.Gln196Pro)
c.203A>C (p.Gln68Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.97691781T=CA1182979322DPYDc.698A= (p.Gln233=)
n.462A=
c.587A= (p.Gln196=)
c.203A= (p.Gln68=)

Number of alleles fetched