Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50527610_50527622delCA2657566830TYMPc.619_631del (p.Thr207CysfsTer?)
c.103_115del (p.Thr35CysfsTer?)
n.738_750del
c.330_342del (n.330_342del)
c.75_87del
c.520_532del (p.Thr174CysfsTer?)
n.744_756del
n.906_918del
 gnomAD v4
22g.50527604G>ACA515273503TYMPc.630C>T (p.Ser210=)
c.114C>T (p.Ser38=)
n.749C>T
c.341C>T (n.341C>T)
c.86C>T
c.531C>T (p.Ser177=)
n.755C>T
n.917C>T
22g.50527604G>CCA412201060TYMPc.630C>G (p.Ser210Arg)
c.114C>G (p.Ser38Arg)
n.749C>G
c.341C>G (n.341C>G)
c.86C>G
c.531C>G (p.Ser177Arg)
n.755C>G
n.917C>G
22g.50527604G>TCA412201058TYMPc.630C>A (p.Ser210Arg)
c.114C>A (p.Ser38Arg)
n.749C>A
c.341C>A (n.341C>A)
c.86C>A
c.531C>A (p.Ser177Arg)
n.755C>A
n.917C>A
22g.50527605C>ACA412201062TYMPc.629G>T (p.Ser210Ile)
c.113G>T (p.Ser38Ile)
n.748G>T
c.340G>T (n.340G>T)
c.85G>T
c.530G>T (p.Ser177Ile)
n.754G>T
n.916G>T
22g.50527605C=CA2410908676TYMPc.629G= (p.Ser210=)
c.113G= (p.Ser38=)
n.748G=
c.340G= (n.340G=)
c.85G=
c.530G= (p.Ser177=)
n.754G=
n.916G=
22g.50527605C>GCA412201064TYMPc.629G>C (p.Ser210Thr)
c.113G>C (p.Ser38Thr)
n.748G>C
c.340G>C (n.340G>C)
c.85G>C
c.530G>C (p.Ser177Thr)
n.754G>C
n.916G>C
22g.50527605C>TCA412201066TYMPc.629G>A (p.Ser210Asn)
c.113G>A (p.Ser38Asn)
n.748G>A
c.340G>A (n.340G>A)
c.85G>A
c.530G>A (p.Ser177Asn)
n.754G>A
n.916G>A
 dbSNP
22g.50527606T>ACA412201067TYMPc.628A>T (p.Ser210Cys)
c.112A>T (p.Ser38Cys)
n.747A>T
c.339A>T (n.339A>T)
c.84A>T
c.529A>T (p.Ser177Cys)
n.753A>T
n.915A>T
22g.50527606T>CCA412201069TYMPc.628A>G (p.Ser210Gly)
c.112A>G (p.Ser38Gly)
n.747A>G
c.339A>G (n.339A>G)
c.84A>G
c.529A>G (p.Ser177Gly)
n.753A>G
n.915A>G
 gnomAD v4
22g.50527606T>GCA10321685TYMPc.628A>C (p.Ser210Arg)
c.112A>C (p.Ser38Arg)
n.747A>C
c.339A>C (n.339A>C)
c.84A>C
c.529A>C (p.Ser177Arg)
n.753A>C
n.915A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527606T=CA2410908677TYMPc.628A= (p.Ser210=)
c.112A= (p.Ser38=)
n.747A=
c.339A= (n.339A=)
c.84A=
c.529A= (p.Ser177=)
n.753A=
n.915A=
22g.50527607G>ACA515273516TYMPc.627C>T (p.Asp209=)
c.111C>T (p.Asp37=)
n.746C>T
c.338C>T (n.338C>T)
c.83C>T
c.528C>T (p.Asp176=)
n.752C>T
n.914C>T
22g.50527607G>CCA412201073TYMPc.627C>G (p.Asp209Glu)
c.111C>G (p.Asp37Glu)
n.746C>G
c.338C>G (n.338C>G)
c.83C>G
c.528C>G (p.Asp176Glu)
n.752C>G
n.914C>G
22g.50527607G>TCA412201076TYMPc.627C>A (p.Asp209Glu)
c.111C>A (p.Asp37Glu)
n.746C>A
c.338C>A (n.338C>A)
c.83C>A
c.528C>A (p.Asp176Glu)
n.752C>A
n.914C>A
22g.50527608T>ACA412201078TYMPc.626A>T (p.Asp209Val)
c.110A>T (p.Asp37Val)
n.745A>T
c.337A>T (n.337A>T)
c.82A>T
c.527A>T (p.Asp176Val)
n.751A>T
n.913A>T
 dbSNP gnomAD v3 gnomAD v4
22g.50527608T>CCA412201082TYMPc.626A>G (p.Asp209Gly)
c.110A>G (p.Asp37Gly)
n.745A>G
c.337A>G (n.337A>G)
c.82A>G
c.527A>G (p.Asp176Gly)
n.751A>G
n.913A>G
 dbSNP
22g.50527608T>GCA412201080TYMPc.626A>C (p.Asp209Ala)
c.110A>C (p.Asp37Ala)
n.745A>C
c.337A>C (n.337A>C)
c.82A>C
c.527A>C (p.Asp176Ala)
n.751A>C
n.913A>C
22g.50527608T=CA2410908678TYMPc.626A= (p.Asp209=)
c.110A= (p.Asp37=)
n.745A=
c.337A= (n.337A=)
c.82A=
c.527A= (p.Asp176=)
n.751A=
n.913A=
22g.50527609C>ACA412201084TYMPc.625G>T (p.Asp209Tyr)
c.109G>T (p.Asp37Tyr)
n.744G>T
c.336G>T (n.336G>T)
c.81G>T
c.526G>T (p.Asp176Tyr)
n.750G>T
n.912G>T
22g.50527609C>GCA412201085TYMPc.625G>C (p.Asp209His)
c.109G>C (p.Asp37His)
n.744G>C
c.336G>C (n.336G>C)
c.81G>C
c.526G>C (p.Asp176His)
n.750G>C
n.912G>C
22g.50527609C>TCA412201087TYMPc.625G>A (p.Asp209Asn)
c.109G>A (p.Asp37Asn)
n.744G>A
c.336G>A (n.336G>A)
c.81G>A
c.526G>A (p.Asp176Asn)
n.750G>A
n.912G>A
 gnomAD v4
22g.50527610C>ACA515273531TYMPc.624G>T (p.Val208=)
c.108G>T (p.Val36=)
n.743G>T
c.335G>T (n.335G>T)
c.80G>T
c.525G>T (p.Val175=)
n.749G>T
n.911G>T
22g.50527610C=CA2410908679TYMPc.624G= (p.Val208=)
c.108G= (p.Val36=)
n.743G=
c.335G= (n.335G=)
c.80G=
c.525G= (p.Val175=)
n.749G=
n.911G=
22g.50527610C>GCA515273529TYMPc.624G>C (p.Val208=)
c.108G>C (p.Val36=)
n.743G>C
c.335G>C (n.335G>C)
c.80G>C
c.525G>C (p.Val175=)
n.749G>C
n.911G>C
22g.50527610C>TCA10321686TYMPc.624G>A (p.Val208=)
c.108G>A (p.Val36=)
n.743G>A
c.335G>A (n.335G>A)
c.80G>A
c.525G>A (p.Val175=)
n.749G>A
n.911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527611A=CA2410908680TYMPc.623T= (p.Val208=)
c.107T= (p.Val36=)
n.742T=
c.334T= (n.334T=)
c.79T=
c.524T= (p.Val175=)
n.748T=
n.910T=
22g.50527611A>CCA16616783TYMPc.623T>G (p.Val208Gly)
c.107T>G (p.Val36Gly)
n.742T>G
c.334T>G (n.334T>G)
c.79T>G
c.524T>G (p.Val175Gly)
n.748T>G
n.910T>G
 ClinVar dbSNP
22g.50527611A>GCA412201088TYMPc.623T>C (p.Val208Ala)
c.107T>C (p.Val36Ala)
n.742T>C
c.334T>C (n.334T>C)
c.79T>C
c.524T>C (p.Val175Ala)
n.748T>C
n.910T>C
 ClinVar
22g.50527611A>TCA412201090TYMPc.623T>A (p.Val208Glu)
c.107T>A (p.Val36Glu)
n.742T>A
c.334T>A (n.334T>A)
c.79T>A
c.524T>A (p.Val175Glu)
n.748T>A
n.910T>A
22g.50527612C>ACA412201094TYMPc.622G>T (p.Val208Leu)
c.106G>T (p.Val36Leu)
n.741G>T
c.333G>T (n.333G>T)
c.78G>T
c.523G>T (p.Val175Leu)
n.747G>T
n.909G>T
 gnomAD v4
22g.50527612C=CA2410908681TYMPc.622G= (p.Val208=)
c.106G= (p.Val36=)
n.741G=
c.333G= (n.333G=)
c.78G=
c.523G= (p.Val175=)
n.747G=
n.909G=
22g.50527612C>GCA412201096TYMPc.622G>C (p.Val208Leu)
c.106G>C (p.Val36Leu)
n.741G>C
c.333G>C (n.333G>C)
c.78G>C
c.523G>C (p.Val175Leu)
n.747G>C
n.909G>C
22g.50527612C>TCA126784TYMPc.622G>A (p.Val208Met)
c.106G>A (p.Val36Met)
n.741G>A
c.333G>A (n.333G>A)
c.78G>A
c.523G>A (p.Val175Met)
n.747G>A
n.909G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527613G>ACA515273540TYMPc.621C>T (p.Thr207=)
c.105C>T (p.Thr35=)
n.740C>T
c.332C>T (n.332C>T)
c.77C>T
c.522C>T (p.Thr174=)
n.746C>T
n.908C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50527613G>CCA515273544TYMPc.621C>G (p.Thr207=)
c.105C>G (p.Thr35=)
n.740C>G
c.332C>G (n.332C>G)
c.77C>G
c.522C>G (p.Thr174=)
n.746C>G
n.908C>G
22g.50527613G=CA2410908682TYMPc.621C= (p.Thr207=)
c.105C= (p.Thr35=)
n.740C=
c.332C= (n.332C=)
c.77C=
c.522C= (p.Thr174=)
n.746C=
n.908C=
22g.50527613G>TCA515273542TYMPc.621C>A (p.Thr207=)
c.105C>A (p.Thr35=)
n.740C>A
c.332C>A (n.332C>A)
c.77C>A
c.522C>A (p.Thr174=)
n.746C>A
n.908C>A
 dbSNP
22g.50527614G>ACA412201101TYMPc.620C>T (p.Thr207Ile)
c.104C>T (p.Thr35Ile)
n.739C>T
c.331C>T (n.331C>T)
c.76C>T
c.521C>T (p.Thr174Ile)
n.745C>T
n.907C>T
22g.50527614G>CCA412201103TYMPc.620C>G (p.Thr207Ser)
c.104C>G (p.Thr35Ser)
n.739C>G
c.331C>G (n.331C>G)
c.76C>G
c.521C>G (p.Thr174Ser)
n.745C>G
n.907C>G
22g.50527614G>TCA412201105TYMPc.620C>A (p.Thr207Asn)
c.104C>A (p.Thr35Asn)
n.739C>A
c.331C>A (n.331C>A)
c.76C>A
c.521C>A (p.Thr174Asn)
n.745C>A
n.907C>A
22g.50527615T>ACA412201107TYMPc.619A>T (p.Thr207Ser)
c.103A>T (p.Thr35Ser)
n.738A>T
c.330A>T (n.330A>T)
c.75A>T
c.520A>T (p.Thr174Ser)
n.744A>T
n.906A>T
 gnomAD v4
22g.50527615T>CCA412201109TYMPc.619A>G (p.Thr207Ala)
c.103A>G (p.Thr35Ala)
n.738A>G
c.330A>G (n.330A>G)
c.75A>G
c.520A>G (p.Thr174Ala)
n.744A>G
n.906A>G
 gnomAD v4
22g.50527615T>GCA412201112TYMPc.619A>C (p.Thr207Pro)
c.103A>C (p.Thr35Pro)
n.738A>C
c.330A>C (n.330A>C)
c.75A>C
c.520A>C (p.Thr174Pro)
n.744A>C
n.906A>C
22g.50527616G>ACA10321687TYMPc.618C>T (p.Ala206=)
c.102C>T (p.Ala34=)
n.737C>T
c.329C>T (n.329C>T)
c.74C>T
c.519C>T (p.Ala173=)
n.743C>T
n.905C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
22g.50527616G>CCA515273557TYMPc.618C>G (p.Ala206=)
c.102C>G (p.Ala34=)
n.737C>G
c.329C>G (n.329C>G)
c.74C>G
c.519C>G (p.Ala173=)
n.743C>G
n.905C>G
22g.50527616G=CA2410908683TYMPc.618C= (p.Ala206=)
c.102C= (p.Ala34=)
n.737C=
c.329C= (n.329C=)
c.74C=
c.519C= (p.Ala173=)
n.743C=
n.905C=
22g.50527616G>TCA515273559TYMPc.618C>A (p.Ala206=)
c.102C>A (p.Ala34=)
n.737C>A
c.329C>A (n.329C>A)
c.74C>A
c.519C>A (p.Ala173=)
n.743C>A
n.905C>A
22g.50527617G>ACA412201115TYMPc.617C>T (p.Ala206Val)
c.101C>T (p.Ala34Val)
n.736C>T
c.328C>T (n.328C>T)
c.73C>T
c.518C>T (p.Ala173Val)
n.742C>T
n.904C>T
 dbSNP COSMIC
22g.50527617G>CCA412201120TYMPc.617C>G (p.Ala206Gly)
c.101C>G (p.Ala34Gly)
n.736C>G
c.328C>G (n.328C>G)
c.73C>G
c.518C>G (p.Ala173Gly)
n.742C>G
n.904C>G
22g.50527617G=CA2410908684TYMPc.617C= (p.Ala206=)
c.101C= (p.Ala34=)
n.736C=
c.328C= (n.328C=)
c.73C=
c.518C= (p.Ala173=)
n.742C=
n.904C=
22g.50527617G>TCA412201121TYMPc.617C>A (p.Ala206Asp)
c.101C>A (p.Ala34Asp)
n.736C>A
c.328C>A (n.328C>A)
c.73C>A
c.518C>A (p.Ala173Asp)
n.742C>A
n.904C>A
 gnomAD v4 COSMIC
22g.50527618C>ACA412201124TYMPc.616G>T (p.Ala206Ser)
c.100G>T (p.Ala34Ser)
n.735G>T
c.327G>T (n.327G>T)
c.72G>T
c.517G>T (p.Ala173Ser)
n.741G>T
n.903G>T
22g.50527618C>GCA412201129TYMPc.616G>C (p.Ala206Pro)
c.100G>C (p.Ala34Pro)
n.735G>C
c.327G>C (n.327G>C)
c.72G>C
c.517G>C (p.Ala173Pro)
n.741G>C
n.903G>C
22g.50527618C>TCA412201125TYMPc.616G>A (p.Ala206Thr)
c.100G>A (p.Ala34Thr)
n.735G>A
c.327G>A (n.327G>A)
c.72G>A
c.517G>A (p.Ala173Thr)
n.741G>A
n.903G>A
22g.50527619T>ACA515273569TYMPc.615A>T (p.Thr205=)
c.99A>T (p.Thr33=)
n.734A>T
c.326A>T (n.326A>T)
c.71A>T
c.516A>T (p.Thr172=)
n.740A>T
n.902A>T
22g.50527619T>CCA515273571TYMPc.615A>G (p.Thr205=)
c.99A>G (p.Thr33=)
n.734A>G
c.326A>G (n.326A>G)
c.71A>G
c.516A>G (p.Thr172=)
n.740A>G
n.902A>G
22g.50527619T>GCA515273573TYMPc.615A>C (p.Thr205=)
c.99A>C (p.Thr33=)
n.734A>C
c.326A>C (n.326A>C)
c.71A>C
c.516A>C (p.Thr172=)
n.740A>C
n.902A>C
22g.50527620G>ACA325562648TYMPc.614C>T (p.Thr205Ile)
c.98C>T (p.Thr33Ile)
n.733C>T
c.325C>T (n.325C>T)
c.70C>T
c.515C>T (p.Thr172Ile)
n.739C>T
n.901C>T
 dbSNP
22g.50527620G>CCA412201131TYMPc.614C>G (p.Thr205Arg)
c.98C>G (p.Thr33Arg)
n.733C>G
c.325C>G (n.325C>G)
c.70C>G
c.515C>G (p.Thr172Arg)
n.739C>G
n.901C>G
22g.50527620G=CA2410908685TYMPc.614C= (p.Thr205=)
c.98C= (p.Thr33=)
n.733C=
c.325C= (n.325C=)
c.70C=
c.515C= (p.Thr172=)
n.739C=
n.901C=
22g.50527620G>TCA412201133TYMPc.614C>A (p.Thr205Lys)
c.98C>A (p.Thr33Lys)
n.733C>A
c.325C>A (n.325C>A)
c.70C>A
c.515C>A (p.Thr172Lys)
n.739C>A
n.901C>A
22g.50527621T>ACA412201134TYMPc.613A>T (p.Thr205Ser)
c.97A>T (p.Thr33Ser)
n.732A>T
c.324A>T (p.Ter108Cys)
c.69A>T
c.514A>T (p.Thr172Ser)
n.738A>T
n.900A>T
22g.50527621T>CCA412201136TYMPc.613A>G (p.Thr205Ala)
c.97A>G (p.Thr33Ala)
n.732A>G
c.324A>G (p.Ter108Trp)
c.69A>G
c.514A>G (p.Thr172Ala)
n.738A>G
n.900A>G
22g.50527621T>GCA412201137TYMPc.613A>C (p.Thr205Pro)
c.97A>C (p.Thr33Pro)
n.732A>C
c.324A>C (p.Ter108Cys)
c.69A>C
c.514A>C (p.Thr172Pro)
n.738A>C
n.900A>C
22g.50527622C>ACA515273583TYMPc.612G>T (p.Val204=)
c.96G>T (p.Val32=)
n.731G>T
c.323G>T (p.Ter108Leu)
c.68G>T
c.513G>T (p.Val171=)
n.737G>T
n.899G>T
22g.50527622C=CA2410908686TYMPc.612G= (p.Val204=)
c.96G= (p.Val32=)
n.731G=
c.323G= (p.Ter108=)
c.68G=
c.513G= (p.Val171=)
n.737G=
n.899G=
22g.50527622C>GCA515273585TYMPc.612G>C (p.Val204=)
c.96G>C (p.Val32=)
n.731G>C
c.323G>C (p.Ter108Ser)
c.68G>C
c.513G>C (p.Val171=)
n.737G>C
n.899G>C
22g.50527622C>TCA325562650TYMPc.612G>A (p.Val204=)
c.96G>A (p.Val32=)
n.731G>A
c.323G>A (p.Ter108=)
c.68G>A
c.513G>A (p.Val171=)
n.737G>A
n.899G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50527623A=CA2410908687TYMPc.611T= (p.Val204=)
c.95T= (p.Val32=)
n.730T=
c.322T= (p.Ter108=)
c.67T=
c.512T= (p.Val171=)
n.736T=
n.898T=
22g.50527623A>CCA412201142TYMPc.611T>G (p.Val204Gly)
c.95T>G (p.Val32Gly)
n.730T>G
c.322T>G (p.Ter108Gly)
c.67T>G
c.512T>G (p.Val171Gly)
n.736T>G
n.898T>G
 dbSNP
22g.50527623A>GCA412201143TYMPc.611T>C (p.Val204Ala)
c.95T>C (p.Val32Ala)
n.730T>C
c.322T>C (p.Ter108Arg)
c.67T>C
c.512T>C (p.Val171Ala)
n.736T>C
n.898T>C
22g.50527623A>TCA412201146TYMPc.611T>A (p.Val204Glu)
c.95T>A (p.Val32Glu)
n.730T>A
c.322T>A (p.Ter108Arg)
c.67T>A
c.512T>A (p.Val171Glu)
n.736T>A
n.898T>A
22g.50527624C>ACA412201149TYMPc.610G>T (p.Val204Leu)
c.94G>T (p.Val32Leu)
n.729G>T
c.321G>T (p.Met107Ile)
c.66G>T
c.511G>T (p.Val171Leu)
n.735G>T
n.897G>T
22g.50527624C>GCA412201150TYMPc.610G>C (p.Val204Leu)
c.94G>C (p.Val32Leu)
n.729G>C
c.321G>C (p.Met107Ile)
c.66G>C
c.511G>C (p.Val171Leu)
n.735G>C
n.897G>C
22g.50527624C>TCA412201152TYMPc.610G>A (p.Val204Met)
c.94G>A (p.Val32Met)
n.729G>A
c.321G>A (p.Met107Ile)
c.66G>A
c.511G>A (p.Val171Met)
n.735G>A
n.897G>A
 gnomAD v4
22g.50527625A>CCA412201156TYMPc.609T>G (p.Asp203Glu)
c.93T>G (p.Asp31Glu)
n.728T>G
c.320T>G (p.Met107Arg)
c.65T>G
c.510T>G (p.Asp170Glu)
n.734T>G
n.896T>G
 gnomAD v4
22g.50527625A>GCA515273596TYMPc.609T>C (p.Asp203=)
c.93T>C (p.Asp31=)
n.728T>C
c.320T>C (p.Met107Thr)
c.65T>C
c.510T>C (p.Asp170=)
n.734T>C
n.896T>C
22g.50527625A>TCA412201154TYMPc.609T>A (p.Asp203Glu)
c.93T>A (p.Asp31Glu)
n.728T>A
c.320T>A (p.Met107Lys)
c.65T>A
c.510T>A (p.Asp170Glu)
n.734T>A
n.896T>A
22g.50527626T>ACA412201158TYMPc.608A>T (p.Asp203Val)
c.92A>T (p.Asp31Val)
n.727A>T
c.319A>T (p.Met107Leu)
c.64A>T
c.509A>T (p.Asp170Val)
n.733A>T
n.895A>T
22g.50527626T>CCA412201160TYMPc.608A>G (p.Asp203Gly)
c.92A>G (p.Asp31Gly)
n.727A>G
c.319A>G (p.Met107Val)
c.64A>G
c.509A>G (p.Asp170Gly)
n.733A>G
n.895A>G
22g.50527626T>GCA412201162TYMPc.608A>C (p.Asp203Ala)
c.92A>C (p.Asp31Ala)
n.727A>C
c.319A>C (p.Met107Leu)
c.64A>C
c.509A>C (p.Asp170Ala)
n.733A>C
n.895A>C
22g.50527627delCA2697552819TYMPc.607del (p.Asp203MetfsTer2)
c.91del (p.Asp31MetfsTer2)
n.726del
c.318del (p.Met107CysfsTer18)
c.63del
c.508del (p.Asp170MetfsTer2)
n.732del
n.894del
 ClinVar
22g.50527627C>ACA412201164TYMPc.607G>T (p.Asp203Tyr)
c.91G>T (p.Asp31Tyr)
n.726G>T
c.318G>T (p.Glu106Asp)
c.63G>T
c.508G>T (p.Asp170Tyr)
n.732G>T
n.894G>T
22g.50527627C=CA2410908688TYMPc.607G= (p.Asp203=)
c.91G= (p.Asp31=)
n.726G=
c.318G= (p.Glu106=)
c.63G=
c.508G= (p.Asp170=)
n.732G=
n.894G=
22g.50527627C>GCA10321688TYMPc.607G>C (p.Asp203His)
c.91G>C (p.Asp31His)
n.726G>C
c.318G>C (p.Glu106Asp)
c.63G>C
c.508G>C (p.Asp170His)
n.732G>C
n.894G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527627C>TCA412201168TYMPc.607G>A (p.Asp203Asn)
c.91G>A (p.Asp31Asn)
n.726G>A
c.318G>A (p.Glu106=)
c.63G>A
c.508G>A (p.Asp170Asn)
n.732G>A
n.894G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527628T>ACA412201171TYMPc.606A>T (p.Arg202Ser)
c.90A>T (p.Arg30Ser)
n.725A>T
c.317A>T (p.Glu106Val)
c.62A>T
c.507A>T (p.Arg169Ser)
n.731A>T
n.893A>T
22g.50527628T>CCA515273605TYMPc.606A>G (p.Arg202=)
c.90A>G (p.Arg30=)
n.725A>G
c.317A>G (p.Glu106Gly)
c.62A>G
c.507A>G (p.Arg169=)
n.731A>G
n.893A>G
22g.50527628T>GCA412201173TYMPc.606A>C (p.Arg202Ser)
c.90A>C (p.Arg30Ser)
n.725A>C
c.317A>C (p.Glu106Ala)
c.62A>C
c.507A>C (p.Arg169Ser)
n.731A>C
n.893A>C
22g.50527629C>ACA412201176TYMPc.605G>T (p.Arg202Ile)
c.89G>T (p.Arg30Ile)
n.724G>T
c.316G>T (p.Glu106Ter)
c.61G>T
c.506G>T (p.Arg169Ile)
n.730G>T
n.892G>T
22g.50527629C=CA2410908689TYMPc.605G= (p.Arg202=)
c.89G= (p.Arg30=)
n.724G=
c.316G= (p.Glu106=)
c.61G=
c.506G= (p.Arg169=)
n.730G=
n.892G=
22g.50527629C>GCA126797TYMPc.605G>C (p.Arg202Thr)
c.89G>C (p.Arg30Thr)
n.724G>C
c.316G>C (p.Glu106Gln)
c.61G>C
c.506G>C (p.Arg169Thr)
n.730G>C
n.892G>C
 ClinVar dbSNP
22g.50527629C>TCA10321689TYMPc.605G>A (p.Arg202Lys)
c.89G>A (p.Arg30Lys)
n.724G>A
c.316G>A (p.Glu106Lys)
c.61G>A
c.506G>A (p.Arg169Lys)
n.730G>A
n.892G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527630T>ACA412201180TYMPc.604A>T (p.Arg202Ter)
c.88A>T (p.Arg30Ter)
n.723A>T
c.315A>T (p.Pro105=)
c.60A>T
c.505A>T (p.Arg169Ter)
n.729A>T
n.891A>T
22g.50527630T>CCA412201182TYMPc.604A>G (p.Arg202Gly)
c.88A>G (p.Arg30Gly)
n.723A>G
c.315A>G (p.Pro105=)
c.60A>G
c.505A>G (p.Arg169Gly)
n.729A>G
n.891A>G
22g.50527630T>GCA515273613TYMPc.604A>C (p.Arg202=)
c.88A>C (p.Arg30=)
n.723A>C
c.315A>C (p.Pro105=)
c.60A>C
c.505A>C (p.Arg169=)
n.729A>C
n.891A>C
22g.50527631G>ACA515273617TYMPc.603C>T (p.Ala201=)
c.87C>T (p.Ala29=)
n.722C>T
c.314C>T (p.Pro105Leu)
c.59C>T
c.504C>T (p.Ala168=)
n.728C>T
n.890C>T
 dbSNP gnomAD v3 gnomAD v4
22g.50527631G>CCA515273619TYMPc.603C>G (p.Ala201=)
c.87C>G (p.Ala29=)
n.722C>G
c.314C>G (p.Pro105Arg)
c.59C>G
c.504C>G (p.Ala168=)
n.728C>G
n.890C>G
22g.50527631G=CA2410908690TYMPc.603C= (p.Ala201=)
c.87C= (p.Ala29=)
n.722C=
c.314C= (p.Pro105=)
c.59C=
c.504C= (p.Ala168=)
n.728C=
n.890C=
22g.50527631G>TCA515273620TYMPc.603C>A (p.Ala201=)
c.87C>A (p.Ala29=)
n.722C>A
c.314C>A (p.Pro105Gln)
c.59C>A
c.504C>A (p.Ala168=)
n.728C>A
n.890C>A
22g.50527632G>ACA412201186TYMPc.602C>T (p.Ala201Val)
c.86C>T (p.Ala29Val)
n.721C>T
c.313C>T (p.Pro105Ser)
c.58C>T
c.503C>T (p.Ala168Val)
n.727C>T
n.889C>T
 dbSNP
22g.50527632G>CCA412201189TYMPc.602C>G (p.Ala201Gly)
c.86C>G (p.Ala29Gly)
n.721C>G
c.313C>G (p.Pro105Ala)
c.58C>G
c.503C>G (p.Ala168Gly)
n.727C>G
n.889C>G
22g.50527632G=CA2410908691TYMPc.602C= (p.Ala201=)
c.86C= (p.Ala29=)
n.721C=
c.313C= (p.Pro105=)
c.58C=
c.503C= (p.Ala168=)
n.727C=
n.889C=
22g.50527632G>TCA10321690TYMPc.602C>A (p.Ala201Asp)
c.86C>A (p.Ala29Asp)
n.721C>A
c.313C>A (p.Pro105Thr)
c.58C>A
c.503C>A (p.Ala168Asp)
n.727C>A
n.889C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527633C>ACA412201192TYMPc.601G>T (p.Ala201Ser)
c.85G>T (p.Ala29Ser)
n.720G>T
c.312G>T (p.Gln104His)
c.57G>T
c.502G>T (p.Ala168Ser)
n.726G>T
n.888G>T
22g.50527633C=CA2410908692TYMPc.601G= (p.Ala201=)
c.85G= (p.Ala29=)
n.720G=
c.312G= (p.Gln104=)
c.57G=
c.502G= (p.Ala168=)
n.726G=
n.888G=
22g.50527633C>GCA412201195TYMPc.601G>C (p.Ala201Pro)
c.85G>C (p.Ala29Pro)
n.720G>C
c.312G>C (p.Gln104His)
c.57G>C
c.502G>C (p.Ala168Pro)
n.726G>C
n.888G>C
22g.50527633C>TCA412201194TYMPc.601G>A (p.Ala201Thr)
c.85G>A (p.Ala29Thr)
n.720G>A
c.312G>A (p.Gln104=)
c.57G>A
c.502G>A (p.Ala168Thr)
n.726G>A
n.888G>A
 dbSNP gnomAD v2 gnomAD v4
22g.50527634T>ACA515273631TYMPc.600A>T (p.Ala200=)
c.84A>T (p.Ala28=)
n.719A>T
c.311A>T (p.Gln104Leu)
c.56A>T
c.501A>T (p.Ala167=)
n.725A>T
n.887A>T
22g.50527634T>CCA10321691TYMPc.600A>G (p.Ala200=)
c.84A>G (p.Ala28=)
n.719A>G
c.311A>G (p.Gln104Arg)
c.56A>G
c.501A>G (p.Ala167=)
n.725A>G
n.887A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527634T>GCA515273633TYMPc.600A>C (p.Ala200=)
c.84A>C (p.Ala28=)
n.719A>C
c.311A>C (p.Gln104Pro)
c.56A>C
c.501A>C (p.Ala167=)
n.725A>C
n.887A>C
22g.50527634T=CA2410908693TYMPc.600A= (p.Ala200=)
c.84A= (p.Ala28=)
n.719A=
c.311A= (p.Gln104=)
c.56A=
c.501A= (p.Ala167=)
n.725A=
n.887A=
22g.50527635G>ACA412201200TYMPc.599C>T (p.Ala200Val)
c.83C>T (p.Ala28Val)
n.718C>T
c.310C>T (p.Gln104Ter)
c.55C>T
c.500C>T (p.Ala167Val)
n.724C>T
n.886C>T
22g.50527635G>CCA412201198TYMPc.599C>G (p.Ala200Gly)
c.83C>G (p.Ala28Gly)
n.718C>G
c.310C>G (p.Gln104Glu)
c.55C>G
c.500C>G (p.Ala167Gly)
n.724C>G
n.886C>G
22g.50527635G>TCA412201199TYMPc.599C>A (p.Ala200Glu)
c.83C>A (p.Ala28Glu)
n.718C>A
c.310C>A (p.Gln104Lys)
c.55C>A
c.500C>A (p.Ala167Glu)
n.724C>A
n.886C>A
22g.50527636C>ACA412201202TYMPc.598G>T (p.Ala200Ser)
c.82G>T (p.Ala28Ser)
n.717G>T
c.309G>T (p.Met103Ile)
c.54G>T
c.499G>T (p.Ala167Ser)
n.723G>T
n.885G>T
22g.50527636C=CA2410908694TYMPc.598G= (p.Ala200=)
c.82G= (p.Ala28=)
n.717G=
c.309G= (p.Met103=)
c.54G=
c.499G= (p.Ala167=)
n.723G=
n.885G=
22g.50527636C>GCA412201203TYMPc.598G>C (p.Ala200Pro)
c.82G>C (p.Ala28Pro)
n.717G>C
c.309G>C (p.Met103Ile)
c.54G>C
c.499G>C (p.Ala167Pro)
n.723G>C
n.885G>C
22g.50527636C>TCA325562690TYMPc.598G>A (p.Ala200Thr)
c.82G>A (p.Ala28Thr)
n.717G>A
c.309G>A (p.Met103Ile)
c.54G>A
c.499G>A (p.Ala167Thr)
n.723G>A
n.885G>A
 dbSNP gnomAD v4
22g.50527637A>CCA412201206TYMPc.597T>G (p.Tyr199Ter)
c.81T>G (p.Tyr27Ter)
n.716T>G
c.308T>G (p.Met103Arg)
c.53T>G
c.498T>G (p.Tyr166Ter)
n.722T>G
n.884T>G
22g.50527637A>GCA515273643TYMPc.597T>C (p.Tyr199=)
c.81T>C (p.Tyr27=)
n.716T>C
c.308T>C (p.Met103Thr)
c.53T>C
c.498T>C (p.Tyr166=)
n.722T>C
n.884T>C
22g.50527637A>TCA412201208TYMPc.597T>A (p.Tyr199Ter)
c.81T>A (p.Tyr27Ter)
n.716T>A
c.308T>A (p.Met103Lys)
c.53T>A
c.498T>A (p.Tyr166Ter)
n.722T>A
n.884T>A
22g.50527640_50527641dupCA640357827TYMPc.596_597dup (p.Ala200MetfsTer6)
c.80_81dup (p.Ala28MetfsTer6)
n.715_716dup
c.307_308dup (p.Met103IlefsTer23)
c.52_53dup
c.497_498dup (p.Ala167MetfsTer6)
n.721_722dup
n.883_884dup
 dbSNP gnomAD v2 gnomAD v4
22g.50527638T>ACA412201211TYMPc.596A>T (p.Tyr199Phe)
c.80A>T (p.Tyr27Phe)
n.715A>T
c.307A>T (p.Met103Leu)
c.52A>T
c.497A>T (p.Tyr166Phe)
n.721A>T
n.883A>T
22g.50527638T>CCA412201213TYMPc.596A>G (p.Tyr199Cys)
c.80A>G (p.Tyr27Cys)
n.715A>G
c.307A>G (p.Met103Val)
c.52A>G
c.497A>G (p.Tyr166Cys)
n.721A>G
n.883A>G
 dbSNP gnomAD v2 gnomAD v4
22g.50527638T>GCA412201214TYMPc.596A>C (p.Tyr199Ser)
c.80A>C (p.Tyr27Ser)
n.715A>C
c.307A>C (p.Met103Leu)
c.52A>C
c.497A>C (p.Tyr166Ser)
n.721A>C
n.883A>C
22g.50527638T=CA2410908695TYMPc.596A= (p.Tyr199=)
c.80A= (p.Tyr27=)
n.715A=
c.307A= (p.Met103=)
c.52A=
c.497A= (p.Tyr166=)
n.721A=
n.883A=
22g.50527639A=CA2410908696TYMPc.595T= (p.Tyr199=)
c.79T= (p.Tyr27=)
n.714T=
c.306T= (p.Tyr102=)
c.51T=
c.496T= (p.Tyr166=)
n.720T=
n.882T=
22g.50527639A>CCA412201216TYMPc.595T>G (p.Tyr199Asp)
c.79T>G (p.Tyr27Asp)
n.714T>G
c.306T>G (p.Tyr102Ter)
c.51T>G
c.496T>G (p.Tyr166Asp)
n.720T>G
n.882T>G
22g.50527639A>GCA412201218TYMPc.595T>C (p.Tyr199His)
c.79T>C (p.Tyr27His)
n.714T>C
c.306T>C (p.Tyr102=)
c.51T>C
c.496T>C (p.Tyr166His)
n.720T>C
n.882T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527639A>TCA412201219TYMPc.595T>A (p.Tyr199Asn)
c.79T>A (p.Tyr27Asn)
n.714T>A
c.306T>A (p.Tyr102Ter)
c.51T>A
c.496T>A (p.Tyr166Asn)
n.720T>A
n.882T>A
22g.50527640T>ACA515273655TYMPc.594A>T (p.Leu198=)
c.78A>T (p.Leu26=)
n.713A>T
c.305A>T (p.Tyr102Phe)
c.50A>T
c.495A>T (p.Leu165=)
n.719A>T
n.881A>T
22g.50527640T>CCA10321692TYMPc.594A>G (p.Leu198=)
c.78A>G (p.Leu26=)
n.713A>G
c.305A>G (p.Tyr102Cys)
c.50A>G
c.495A>G (p.Leu165=)
n.719A>G
n.881A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527640T>GCA515273659TYMPc.594A>C (p.Leu198=)
c.78A>C (p.Leu26=)
n.713A>C
c.305A>C (p.Tyr102Ser)
c.50A>C
c.495A>C (p.Leu165=)
n.719A>C
n.881A>C
22g.50527640T=CA2410908697TYMPc.594A= (p.Leu198=)
c.78A= (p.Leu26=)
n.713A=
c.305A= (p.Tyr102=)
c.50A=
c.495A= (p.Leu165=)
n.719A=
n.881A=
22g.50527641A>CCA412201223TYMPc.593T>G (p.Leu198Arg)
c.77T>G (p.Leu26Arg)
n.712T>G
c.304T>G (p.Tyr102Asp)
c.49T>G
c.494T>G (p.Leu165Arg)
n.718T>G
n.880T>G
 gnomAD v4
22g.50527641A>GCA412201224TYMPc.593T>C (p.Leu198Pro)
c.77T>C (p.Leu26Pro)
n.712T>C
c.304T>C (p.Tyr102His)
c.49T>C
c.494T>C (p.Leu165Pro)
n.718T>C
n.880T>C
 ClinVar dbSNP
22g.50527641A>TCA412201226TYMPc.593T>A (p.Leu198Gln)
c.77T>A (p.Leu26Gln)
n.712T>A
c.304T>A (p.Tyr102Asn)
c.49T>A
c.494T>A (p.Leu165Gln)
n.718T>A
n.880T>A
22g.50527642G>ACA515273665TYMPc.592C>T (p.Leu198=)
c.76C>T (p.Leu26=)
n.711C>T
c.303C>T (p.Ser101=)
c.48C>T
c.493C>T (p.Leu165=)
n.717C>T
n.879C>T
22g.50527642G>CCA412201228TYMPc.592C>G (p.Leu198Val)
c.76C>G (p.Leu26Val)
n.711C>G
c.303C>G (p.Ser101=)
c.48C>G
c.493C>G (p.Leu165Val)
n.717C>G
n.879C>G
22g.50527642G>TCA412201230TYMPc.592C>A (p.Leu198Ile)
c.76C>A (p.Leu26Ile)
n.711C>A
c.303C>A (p.Ser101=)
c.48C>A
c.493C>A (p.Leu165Ile)
n.717C>A
n.879C>A
22g.50527643G>ACA515273668TYMPc.591C>T (p.Ile197=)
c.75C>T (p.Ile25=)
n.710C>T
c.302C>T (p.Ser101Phe)
c.47C>T
c.492C>T (p.Ile164=)
n.716C>T
n.878C>T
22g.50527643G>CCA412201233TYMPc.591C>G (p.Ile197Met)
c.75C>G (p.Ile25Met)
n.710C>G
c.302C>G (p.Ser101Cys)
c.47C>G
c.492C>G (p.Ile164Met)
n.716C>G
n.878C>G
22g.50527643G>TCA515273671TYMPc.591C>A (p.Ile197=)
c.75C>A (p.Ile25=)
n.710C>A
c.302C>A (p.Ser101Tyr)
c.47C>A
c.492C>A (p.Ile164=)
n.716C>A
n.878C>A
22g.50527644A=CA2410908698TYMPc.590T= (p.Ile197=)
c.74T= (p.Ile25=)
n.709T=
c.301T= (p.Ser101=)
c.46T=
c.491T= (p.Ile164=)
n.715T=
n.877T=
22g.50527644A>CCA412201234TYMPc.590T>G (p.Ile197Ser)
c.74T>G (p.Ile25Ser)
n.709T>G
c.301T>G (p.Ser101Ala)
c.46T>G
c.491T>G (p.Ile164Ser)
n.715T>G
n.877T>G
22g.50527644A>GCA412201235TYMPc.590T>C (p.Ile197Thr)
c.74T>C (p.Ile25Thr)
n.709T>C
c.301T>C (p.Ser101Pro)
c.46T>C
c.491T>C (p.Ile164Thr)
n.715T>C
n.877T>C
 dbSNP
22g.50527644A>TCA412201236TYMPc.590T>A (p.Ile197Asn)
c.74T>A (p.Ile25Asn)
n.709T>A
c.301T>A (p.Ser101Thr)
c.46T>A
c.491T>A (p.Ile164Asn)
n.715T>A
n.877T>A
22g.50527645T>ACA412201237TYMPc.589A>T (p.Ile197Phe)
c.73A>T (p.Ile25Phe)
n.708A>T
c.300A>T (p.Glu100Asp)
c.45A>T
c.490A>T (p.Ile164Phe)
n.714A>T
n.876A>T
22g.50527645T>CCA412201238TYMPc.589A>G (p.Ile197Val)
c.73A>G (p.Ile25Val)
n.708A>G
c.300A>G (p.Glu100=)
c.45A>G
c.490A>G (p.Ile164Val)
n.714A>G
n.876A>G
22g.50527645T>GCA412201239TYMPc.589A>C (p.Ile197Leu)
c.73A>C (p.Ile25Leu)
n.708A>C
c.300A>C (p.Glu100Asp)
c.45A>C
c.490A>C (p.Ile164Leu)
n.714A>C
n.876A>C
22g.50527646T>ACA515273682TYMPc.588A>T (p.Gly196=)
c.72A>T (p.Gly24=)
n.707A>T
c.299A>T (p.Glu100Val)
c.44A>T
c.489A>T (p.Gly163=)
n.713A>T
n.875A>T
22g.50527646T>CCA515273684TYMPc.588A>G (p.Gly196=)
c.72A>G (p.Gly24=)
n.707A>G
c.299A>G (p.Glu100Gly)
c.44A>G
c.489A>G (p.Gly163=)
n.713A>G
n.875A>G
22g.50527646T>GCA515273687TYMPc.588A>C (p.Gly196=)
c.72A>C (p.Gly24=)
n.707A>C
c.299A>C (p.Glu100Ala)
c.44A>C
c.489A>C (p.Gly163=)
n.713A>C
n.875A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527646T=CA2410908699TYMPc.588A= (p.Gly196=)
c.72A= (p.Gly24=)
n.707A=
c.299A= (p.Glu100=)
c.44A=
c.489A= (p.Gly163=)
n.713A=
n.875A=
22g.50527647C>ACA412201244TYMPc.587G>T (p.Gly196Val)
c.71G>T (p.Gly24Val)
n.706G>T
c.298G>T (p.Glu100Ter)
c.43G>T
c.488G>T (p.Gly163Val)
n.712G>T
n.874G>T
22g.50527647C=CA2410908700TYMPc.587G= (p.Gly196=)
c.71G= (p.Gly24=)
n.706G=
c.298G= (p.Glu100=)
c.43G=
c.488G= (p.Gly163=)
n.712G=
n.874G=
22g.50527647C>GCA412201242TYMPc.587G>C (p.Gly196Ala)
c.71G>C (p.Gly24Ala)
n.706G>C
c.298G>C (p.Glu100Gln)
c.43G>C
c.488G>C (p.Gly163Ala)
n.712G>C
n.874G>C
22g.50527647C>TCA412201240TYMPc.587G>A (p.Gly196Glu)
c.71G>A (p.Gly24Glu)
n.706G>A
c.298G>A (p.Glu100Lys)
c.43G>A
c.488G>A (p.Gly163Glu)
n.712G>A
n.874G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.50527648C>ACA412201245TYMPc.586G>T (p.Gly196Ter)
c.70G>T (p.Gly24Ter)
n.705G>T
c.297G>T (p.Thr99=)
c.42G>T
c.487G>T (p.Gly163Ter)
n.711G>T
n.873G>T
 ClinVar dbSNP
22g.50527648C=CA2410908701TYMPc.586G= (p.Gly196=)
c.70G= (p.Gly24=)
n.705G=
c.297G= (p.Thr99=)
c.42G=
c.487G= (p.Gly163=)
n.711G=
n.873G=
22g.50527648C>GCA10321693TYMPc.586G>C (p.Gly196Arg)
c.70G>C (p.Gly24Arg)
n.705G>C
c.297G>C (p.Thr99=)
c.42G>C
c.487G>C (p.Gly163Arg)
n.711G>C
n.873G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527648C>TCA322490TYMPc.586G>A (p.Gly196Arg)
c.70G>A (p.Gly24Arg)
n.705G>A
c.297G>A (p.Thr99=)
c.42G>A
c.487G>A (p.Gly163Arg)
n.711G>A
n.873G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.50527649G>ACA325562708TYMPc.585C>T (p.Asp195=)
c.69C>T (p.Asp23=)
n.704C>T
c.296C>T (p.Thr99Met)
c.41C>T
c.486C>T (p.Asp162=)
n.710C>T
n.872C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50527649G>CCA412201246TYMPc.585C>G (p.Asp195Glu)
c.69C>G (p.Asp23Glu)
n.704C>G
c.296C>G (p.Thr99Arg)
c.41C>G
c.486C>G (p.Asp162Glu)
n.710C>G
n.872C>G
22g.50527649G=CA2410908702TYMPc.585C= (p.Asp195=)
c.69C= (p.Asp23=)
n.704C=
c.296C= (p.Thr99=)
c.41C=
c.486C= (p.Asp162=)
n.710C=
n.872C=
22g.50527649G>TCA325562710TYMPc.585C>A (p.Asp195Glu)
c.69C>A (p.Asp23Glu)
n.704C>A
c.296C>A (p.Thr99Lys)
c.41C>A
c.486C>A (p.Asp162Glu)
n.710C>A
n.872C>A
 dbSNP
22g.50527650T>ACA412201247TYMPc.584A>T (p.Asp195Val)
c.68A>T (p.Asp23Val)
n.703A>T
c.295A>T (p.Thr99Ser)
c.40A>T
c.485A>T (p.Asp162Val)
n.709A>T
n.871A>T
22g.50527650T>CCA412201248TYMPc.584A>G (p.Asp195Gly)
c.68A>G (p.Asp23Gly)
n.703A>G
c.295A>G (p.Thr99Ala)
c.40A>G
c.485A>G (p.Asp162Gly)
n.709A>G
n.871A>G
22g.50527650T>GCA412201249TYMPc.584A>C (p.Asp195Ala)
c.68A>C (p.Asp23Ala)
n.703A>C
c.295A>C (p.Thr99Pro)
c.40A>C
c.485A>C (p.Asp162Ala)
n.709A>C
n.871A>C
22g.50527651C>ACA412201251TYMPc.583G>T (p.Asp195Tyr)
c.67G>T (p.Asp23Tyr)
n.702G>T
c.294G>T (p.Arg98=)
c.39G>T
c.484G>T (p.Asp162Tyr)
n.708G>T
n.870G>T
22g.50527651C>GCA412201252TYMPc.583G>C (p.Asp195His)
c.67G>C (p.Asp23His)
n.702G>C
c.294G>C (p.Arg98=)
c.39G>C
c.484G>C (p.Asp162His)
n.708G>C
n.870G>C
22g.50527651C>TCA412201254TYMPc.583G>A (p.Asp195Asn)
c.67G>A (p.Asp23Asn)
n.702G>A
c.294G>A (p.Arg98=)
c.39G>A
c.484G>A (p.Asp162Asn)
n.708G>A
n.870G>A
22g.50527652C>ACA515273710TYMPc.582G>T (p.Ala194=)
c.66G>T (p.Ala22=)
n.701G>T
c.293G>T (p.Arg98Leu)
c.38G>T
c.483G>T (p.Ala161=)
n.707G>T
n.869G>T
22g.50527652C=CA2410908703TYMPc.582G= (p.Ala194=)
c.66G= (p.Ala22=)
n.701G=
c.293G= (p.Arg98=)
c.38G=
c.483G= (p.Ala161=)
n.707G=
n.869G=
22g.50527652C>GCA515273707TYMPc.582G>C (p.Ala194=)
c.66G>C (p.Ala22=)
n.701G>C
c.293G>C (p.Arg98Pro)
c.38G>C
c.483G>C (p.Ala161=)
n.707G>C
n.869G>C
22g.50527652C>TCA10321694TYMPc.582G>A (p.Ala194=)
c.66G>A (p.Ala22=)
n.701G>A
c.293G>A (p.Arg98Gln)
c.38G>A
c.483G>A (p.Ala161=)
n.707G>A
n.869G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527653G>ACA412201261TYMPc.581C>T (p.Ala194Val)
c.65C>T (p.Ala22Val)
n.700C>T
c.292C>T (p.Arg98Trp)
c.37C>T
c.482C>T (p.Ala161Val)
n.706C>T
n.868C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527653G>CCA412201259TYMPc.581C>G (p.Ala194Gly)
c.65C>G (p.Ala22Gly)
n.700C>G
c.292C>G (p.Arg98Gly)
c.37C>G
c.482C>G (p.Ala161Gly)
n.706C>G
n.868C>G
 gnomAD v4
22g.50527653G=CA2410908704TYMPc.581C= (p.Ala194=)
c.65C= (p.Ala22=)
n.700C=
c.292C= (p.Arg98=)
c.37C=
c.482C= (p.Ala161=)
n.706C=
n.868C=
22g.50527653G>TCA412201257TYMPc.581C>A (p.Ala194Glu)
c.65C>A (p.Ala22Glu)
n.700C>A
c.292C>A (p.Arg98=)
c.37C>A
c.482C>A (p.Ala161Glu)
n.706C>A
n.868C>A
22g.50527654C>ACA412201263TYMPc.580G>T (p.Ala194Ser)
c.64G>T (p.Ala22Ser)
n.699G>T
c.291G>T (p.Leu97=)
c.36G>T
c.481G>T (p.Ala161Ser)
n.705G>T
n.867G>T
22g.50527654C=CA2410908705TYMPc.580G= (p.Ala194=)
c.64G= (p.Ala22=)
n.699G=
c.291G= (p.Leu97=)
c.36G=
c.481G= (p.Ala161=)
n.705G=
n.867G=
22g.50527654C>GCA412201265TYMPc.580G>C (p.Ala194Pro)
c.64G>C (p.Ala22Pro)
n.699G>C
c.291G>C (p.Leu97=)
c.36G>C
c.481G>C (p.Ala161Pro)
n.705G>C
n.867G>C
22g.50527654C>TCA325562719TYMPc.580G>A (p.Ala194Thr)
c.64G>A (p.Ala22Thr)
n.699G>A
c.291G>A (p.Leu97=)
c.36G>A
c.481G>A (p.Ala161Thr)
n.705G>A
n.867G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527655A=CA2410908706TYMPc.579T= (p.Pro193=)
c.63T= (p.Pro21=)
n.698T=
c.290T= (p.Leu97=)
c.35T=
c.480T= (p.Pro160=)
n.704T=
n.866T=
22g.50527655A>CCA515273720TYMPc.579T>G (p.Pro193=)
c.63T>G (p.Pro21=)
n.698T>G
c.290T>G (p.Leu97Arg)
c.35T>G
c.480T>G (p.Pro160=)
n.704T>G
n.866T>G
22g.50527655A>GCA515273723TYMPc.579T>C (p.Pro193=)
c.63T>C (p.Pro21=)
n.698T>C
c.290T>C (p.Leu97Pro)
c.35T>C
c.480T>C (p.Pro160=)
n.704T>C
n.866T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527655A>TCA515273721TYMPc.579T>A (p.Pro193=)
c.63T>A (p.Pro21=)
n.698T>A
c.290T>A (p.Leu97Gln)
c.35T>A
c.480T>A (p.Pro160=)
n.704T>A
n.866T>A
22g.50527656G>ACA325562720TYMPc.578C>T (p.Pro193Leu)
c.62C>T (p.Pro21Leu)
n.697C>T
c.289C>T (p.Leu97=)
c.34C>T
c.479C>T (p.Pro160Leu)
n.703C>T
n.865C>T
 dbSNP
22g.50527656G>CCA412201267TYMPc.578C>G (p.Pro193Arg)
c.62C>G (p.Pro21Arg)
n.697C>G
c.289C>G (p.Leu97Val)
c.34C>G
c.479C>G (p.Pro160Arg)
n.703C>G
n.865C>G
22g.50527656G=CA2410908707TYMPc.578C= (p.Pro193=)
c.62C= (p.Pro21=)
n.697C=
c.289C= (p.Leu97=)
c.34C=
c.479C= (p.Pro160=)
n.703C=
n.865C=
22g.50527656G>TCA412201270TYMPc.578C>A (p.Pro193His)
c.62C>A (p.Pro21His)
n.697C>A
c.289C>A (p.Leu97Met)
c.34C>A
c.479C>A (p.Pro160His)
n.703C>A
n.865C>A
22g.50527657G>ACA412201273TYMPc.577C>T (p.Pro193Ser)
c.61C>T (p.Pro21Ser)
n.696C>T
c.288C>T (p.Phe96=)
c.33C>T
c.478C>T (p.Pro160Ser)
n.702C>T
n.864C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50527657G>CCA412201275TYMPc.577C>G (p.Pro193Ala)
c.61C>G (p.Pro21Ala)
n.696C>G
c.288C>G (p.Phe96Leu)
c.33C>G
c.478C>G (p.Pro160Ala)
n.702C>G
n.864C>G
22g.50527657G=CA2410908708TYMPc.577C= (p.Pro193=)
c.61C= (p.Pro21=)
n.696C=
c.288C= (p.Phe96=)
c.33C=
c.478C= (p.Pro160=)
n.702C=
n.864C=
22g.50527657G>TCA412201276TYMPc.577C>A (p.Pro193Thr)
c.61C>A (p.Pro21Thr)
n.696C>A
c.288C>A (p.Phe96Leu)
c.33C>A
c.478C>A (p.Pro160Thr)
n.702C>A
n.864C>A
 COSMIC
22g.50527658A>CCA515273733TYMPc.576T>G (p.Val192=)
c.60T>G (p.Val20=)
n.695T>G
c.287T>G (p.Phe96Cys)
c.32T>G
c.477T>G (p.Val159=)
n.701T>G
n.863T>G
22g.50527658A>GCA515273734TYMPc.576T>C (p.Val192=)
c.60T>C (p.Val20=)
n.695T>C
c.287T>C (p.Phe96Ser)
c.32T>C
c.477T>C (p.Val159=)
n.701T>C
n.863T>C
22g.50527658A>TCA515273736TYMPc.576T>A (p.Val192=)
c.60T>A (p.Val20=)
n.695T>A
c.287T>A (p.Phe96Tyr)
c.32T>A
c.477T>A (p.Val159=)
n.701T>A
n.863T>A
22g.50527659A=CA2410908709TYMPc.575T= (p.Val192=)
c.59T= (p.Val20=)
n.694T=
c.286T= (p.Phe96=)
c.31T=
c.476T= (p.Val159=)
n.700T=
n.862T=
22g.50527659A>CCA412201279TYMPc.575T>G (p.Val192Gly)
c.59T>G (p.Val20Gly)
n.694T>G
c.286T>G (p.Phe96Val)
c.31T>G
c.476T>G (p.Val159Gly)
n.700T>G
n.862T>G
22g.50527659A>GCA10321695TYMPc.575T>C (p.Val192Ala)
c.59T>C (p.Val20Ala)
n.694T>C
c.286T>C (p.Phe96Leu)
c.31T>C
c.476T>C (p.Val159Ala)
n.700T>C
n.862T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527659A>TCA412201283TYMPc.575T>A (p.Val192Asp)
c.59T>A (p.Val20Asp)
n.694T>A
c.286T>A (p.Phe96Ile)
c.31T>A
c.476T>A (p.Val159Asp)
n.700T>A
n.862T>A
22g.50527660C>ACA412201288TYMPc.574G>T (p.Val192Phe)
c.58G>T (p.Val20Phe)
n.693G>T
c.285G>T (p.Trp95Cys)
c.30G>T
c.475G>T (p.Val159Phe)
n.699G>T
n.861G>T
22g.50527660C>GCA412201286TYMPc.574G>C (p.Val192Leu)
c.58G>C (p.Val20Leu)
n.693G>C
c.285G>C (p.Trp95Cys)
c.30G>C
c.475G>C (p.Val159Leu)
n.699G>C
n.861G>C
22g.50527660C>TCA412201284TYMPc.574G>A (p.Val192Ile)
c.58G>A (p.Val20Ile)
n.693G>A
c.285G>A (p.Trp95Ter)
c.30G>A
c.475G>A (p.Val159Ile)
n.699G>A
n.861G>A
 gnomAD v4
22g.50527661C>ACA515273747TYMPc.573G>T (p.Leu191=)
c.57G>T (p.Leu19=)
n.692G>T
c.284G>T (p.Trp95Leu)
c.29G>T
c.474G>T (p.Leu158=)
n.698G>T
n.860G>T
22g.50527661C=CA2410908710TYMPc.573G= (p.Leu191=)
c.57G= (p.Leu19=)
n.692G=
c.284G= (p.Trp95=)
c.29G=
c.474G= (p.Leu158=)
n.698G=
n.860G=
22g.50527661C>GCA515273749TYMPc.573G>C (p.Leu191=)
c.57G>C (p.Leu19=)
n.692G>C
c.284G>C (p.Trp95Ser)
c.29G>C
c.474G>C (p.Leu158=)
n.698G>C
n.860G>C
22g.50527661C>TCA325562721TYMPc.573G>A (p.Leu191=)
c.57G>A (p.Leu19=)
n.692G>A
c.284G>A (p.Trp95Ter)
c.29G>A
c.474G>A (p.Leu158=)
n.698G>A
n.860G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527662A=CA2410908711TYMPc.572T= (p.Leu191=)
c.56T= (p.Leu19=)
n.691T=
c.283T= (p.Trp95=)
c.28T=
c.473T= (p.Leu158=)
n.697T=
n.859T=
22g.50527662A>CCA412201289TYMPc.572T>G (p.Leu191Arg)
c.56T>G (p.Leu19Arg)
n.691T>G
c.283T>G (p.Trp95Gly)
c.28T>G
c.473T>G (p.Leu158Arg)
n.697T>G
n.859T>G
22g.50527662A>GCA10321696TYMPc.572T>C (p.Leu191Pro)
c.56T>C (p.Leu19Pro)
n.691T>C
c.283T>C (p.Trp95Arg)
c.28T>C
c.473T>C (p.Leu158Pro)
n.697T>C
n.859T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527662A>TCA412201290TYMPc.572T>A (p.Leu191Gln)
c.56T>A (p.Leu19Gln)
n.691T>A
c.283T>A (p.Trp95Arg)
c.28T>A
c.473T>A (p.Leu158Gln)
n.697T>A
n.859T>A
22g.50527663G>ACA10321697TYMPc.571C>T (p.Leu191=)
c.55C>T (p.Leu19=)
n.690C>T
c.282C>T (p.Ser94=)
c.27C>T
c.472C>T (p.Leu158=)
n.696C>T
n.858C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527663G>CCA412201292TYMPc.571C>G (p.Leu191Val)
c.55C>G (p.Leu19Val)
n.690C>G
c.282C>G (p.Ser94Arg)
c.27C>G
c.472C>G (p.Leu158Val)
n.696C>G
n.858C>G
 dbSNP gnomAD v2 gnomAD v4
22g.50527663G=CA2410908712TYMPc.571C= (p.Leu191=)
c.55C= (p.Leu19=)
n.690C=
c.282C= (p.Ser94=)
c.27C=
c.472C= (p.Leu158=)
n.696C=
n.858C=
22g.50527663G>TCA412201294TYMPc.571C>A (p.Leu191Met)
c.55C>A (p.Leu19Met)
n.690C>A
c.282C>A (p.Ser94Arg)
c.27C>A
c.472C>A (p.Leu158Met)
n.696C>A
n.858C>A
 gnomAD v4 COSMIC
22g.50527664C>ACA412201295TYMPc.570G>T (p.Gln190His)
c.54G>T (p.Gln18His)
n.689G>T
c.281G>T (p.Ser94Ile)
c.26G>T
c.471G>T (p.Gln157His)
n.695G>T
n.857G>T
22g.50527664C=CA2410908713TYMPc.570G= (p.Gln190=)
c.54G= (p.Gln18=)
n.689G=
c.281G= (p.Ser94=)
c.26G=
c.471G= (p.Gln157=)
n.695G=
n.857G=
22g.50527664C>GCA412201298TYMPc.570G>C (p.Gln190His)
c.54G>C (p.Gln18His)
n.689G>C
c.281G>C (p.Ser94Thr)
c.26G>C
c.471G>C (p.Gln157His)
n.695G>C
n.857G>C
22g.50527664C>TCA515273766TYMPc.570G>A (p.Gln190=)
c.54G>A (p.Gln18=)
n.689G>A
c.281G>A (p.Ser94Asn)
c.26G>A
c.471G>A (p.Gln157=)
n.695G>A
n.857G>A
 dbSNP gnomAD v2 gnomAD v4
22g.50527665T>ACA412201301TYMPc.569A>T (p.Gln190Leu)
c.53A>T (p.Gln18Leu)
n.688A>T
c.280A>T (p.Ser94Cys)
c.25A>T
c.470A>T (p.Gln157Leu)
n.694A>T
n.856A>T
22g.50527665T>CCA412201303TYMPc.569A>G (p.Gln190Arg)
c.53A>G (p.Gln18Arg)
n.688A>G
c.280A>G (p.Ser94Gly)
c.25A>G
c.470A>G (p.Gln157Arg)
n.694A>G
n.856A>G
22g.50527665T>GCA412201305TYMPc.569A>C (p.Gln190Pro)
c.53A>C (p.Gln18Pro)
n.688A>C
c.280A>C (p.Ser94Arg)
c.25A>C
c.470A>C (p.Gln157Pro)
n.694A>C
n.856A>C
 gnomAD v4
22g.50527665_50527668dupCA2657567015TYMPc.566_569dup (p.Leu191AlafsTer?)
c.50_53dup (p.Leu19AlafsTer?)
n.685_688dup
c.277_280dup (p.Ser94LysfsTer?)
c.22_25dup
c.467_470dup (p.Leu158AlafsTer?)
n.691_694dup
n.853_856dup
 gnomAD v4
22g.50527666G>ACA412201308TYMPc.568C>T (p.Gln190Ter)
c.52C>T (p.Gln18Ter)
n.687C>T
c.279C>T (p.Ser93=)
c.24C>T
c.469C>T (p.Gln157Ter)
n.693C>T
n.855C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.50527666G>CCA412201310TYMPc.568C>G (p.Gln190Glu)
c.52C>G (p.Gln18Glu)
n.687C>G
c.279C>G (p.Ser93Arg)
c.24C>G
c.469C>G (p.Gln157Glu)
n.693C>G
n.855C>G
22g.50527666G=CA2410908714TYMPc.568C= (p.Gln190=)
c.52C= (p.Gln18=)
n.687C=
c.279C= (p.Ser93=)
c.24C=
c.469C= (p.Gln157=)
n.693C=
n.855C=
22g.50527666G>TCA412201311TYMPc.568C>A (p.Gln190Lys)
c.52C>A (p.Gln18Lys)
n.687C>A
c.279C>A (p.Ser93Arg)
c.24C>A
c.469C>A (p.Gln157Lys)
n.693C>A
n.855C>A
22g.50527667C>ACA412201312TYMPc.567G>T (p.Glu189Asp)
c.51G>T (p.Glu17Asp)
n.686G>T
c.278G>T (p.Ser93Ile)
c.23G>T
c.468G>T (p.Glu156Asp)
n.692G>T
n.854G>T
22g.50527667C>GCA412201313TYMPc.567G>C (p.Glu189Asp)
c.51G>C (p.Glu17Asp)
n.686G>C
c.278G>C (p.Ser93Thr)
c.23G>C
c.468G>C (p.Glu156Asp)
n.692G>C
n.854G>C
 gnomAD v4
22g.50527667C>TCA515273782TYMPc.567G>A (p.Glu189=)
c.51G>A (p.Glu17=)
n.686G>A
c.278G>A (p.Ser93Asn)
c.23G>A
c.468G>A (p.Glu156=)
n.692G>A
n.854G>A
22g.50527668T>ACA412201314TYMPc.566A>T (p.Glu189Val)
c.50A>T (p.Glu17Val)
n.685A>T
c.277A>T (p.Ser93Cys)
c.22A>T
c.467A>T (p.Glu156Val)
n.691A>T
n.853A>T
22g.50527668T>CCA412201316TYMPc.566A>G (p.Glu189Gly)
c.50A>G (p.Glu17Gly)
n.685A>G
c.277A>G (p.Ser93Gly)
c.22A>G
c.467A>G (p.Glu156Gly)
n.691A>G
n.853A>G
 dbSNP gnomAD v2 gnomAD v4
22g.50527668T>GCA412201315TYMPc.566A>C (p.Glu189Ala)
c.50A>C (p.Glu17Ala)
n.685A>C
c.277A>C (p.Ser93Arg)
c.22A>C
c.467A>C (p.Glu156Ala)
n.691A>C
n.853A>C
22g.50527668T=CA2410908715TYMPc.566A= (p.Glu189=)
c.50A= (p.Glu17=)
n.685A=
c.277A= (p.Ser93=)
c.22A=
c.467A= (p.Glu156=)
n.691A=
n.853A=
22g.50527669C>ACA412201317TYMPc.565G>T (p.Glu189Ter)
c.49G>T (p.Glu17Ter)
n.684G>T
c.276G>T (p.Val92=)
c.21G>T
c.466G>T (p.Glu156Ter)
n.690G>T
n.852G>T
22g.50527669C=CA2410908716TYMPc.565G= (p.Glu189=)
c.49G= (p.Glu17=)
n.684G=
c.276G= (p.Val92=)
c.21G=
c.466G= (p.Glu156=)
n.690G=
n.852G=
22g.50527669C>GCA412201319TYMPc.565G>C (p.Glu189Gln)
c.49G>C (p.Glu17Gln)
n.684G>C
c.276G>C (p.Val92=)
c.21G>C
c.466G>C (p.Glu156Gln)
n.690G>C
n.852G>C
22g.50527669C>TCA412201320TYMPc.565G>A (p.Glu189Lys)
c.49G>A (p.Glu17Lys)
n.684G>A
c.276G>A (p.Val92=)
c.21G>A
c.466G>A (p.Glu156Lys)
n.690G>A
n.852G>A
 dbSNP gnomAD v4
22g.50527670A=CA2410908717TYMPc.564T= (p.Ser188=)
c.48T= (p.Ser16=)
n.683T=
c.275T= (p.Val92=)
c.20T=
c.465T= (p.Ser155=)
n.689T=
n.851T=
22g.50527670A>CCA10321698TYMPc.564T>G (p.Ser188Arg)
c.48T>G (p.Ser16Arg)
n.683T>G
c.275T>G (p.Val92Gly)
c.20T>G
c.465T>G (p.Ser155Arg)
n.689T>G
n.851T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527670A>GCA515273796TYMPc.564T>C (p.Ser188=)
c.48T>C (p.Ser16=)
n.683T>C
c.275T>C (p.Val92Ala)
c.20T>C
c.465T>C (p.Ser155=)
n.689T>C
n.851T>C
 ClinVar dbSNP gnomAD v4
22g.50527670A>TCA412201323TYMPc.564T>A (p.Ser188Arg)
c.48T>A (p.Ser16Arg)
n.683T>A
c.275T>A (p.Val92Glu)
c.20T>A
c.465T>A (p.Ser155Arg)
n.689T>A
n.851T>A
22g.50527671C>ACA412201324TYMPc.563G>T (p.Ser188Ile)
c.47G>T (p.Ser16Ile)
n.682G>T
c.274G>T (p.Val92Leu)
c.19G>T
c.464G>T (p.Ser155Ile)
n.688G>T
n.850G>T
22g.50527671C=CA2410908718TYMPc.563G= (p.Ser188=)
c.47G= (p.Ser16=)
n.682G=
c.274G= (p.Val92=)
c.19G=
c.464G= (p.Ser155=)
n.688G=
n.850G=
22g.50527671C>GCA10645772TYMPc.563G>C (p.Ser188Thr)
c.47G>C (p.Ser16Thr)
n.682G>C
c.274G>C (p.Val92Leu)
c.19G>C
c.464G>C (p.Ser155Thr)
n.688G>C
n.850G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527671C>TCA412201326TYMPc.563G>A (p.Ser188Asn)
c.47G>A (p.Ser16Asn)
n.682G>A
c.274G>A (p.Val92Met)
c.19G>A
c.464G>A (p.Ser155Asn)
n.688G>A
n.850G>A
22g.50527672T>ACA412201327TYMPc.562A>T (p.Ser188Cys)
c.46A>T (p.Ser16Cys)
n.681A>T
c.273A>T (p.Arg91Ser)
c.18A>T
c.463A>T (p.Ser155Cys)
n.687A>T
n.849A>T
 dbSNP
22g.50527672T>CCA412201328TYMPc.562A>G (p.Ser188Gly)
c.46A>G (p.Ser16Gly)
n.681A>G
c.273A>G (p.Arg91=)
c.18A>G
c.463A>G (p.Ser155Gly)
n.687A>G
n.849A>G
 dbSNP
22g.50527672T>GCA412201329TYMPc.562A>C (p.Ser188Arg)
c.46A>C (p.Ser16Arg)
n.681A>C
c.273A>C (p.Arg91Ser)
c.18A>C
c.463A>C (p.Ser155Arg)
n.687A>C
n.849A>C
22g.50527672T=CA2410908719TYMPc.562A= (p.Ser188=)
c.46A= (p.Ser16=)
n.681A=
c.273A= (p.Arg91=)
c.18A=
c.463A= (p.Ser155=)
n.687A=
n.849A=
22g.50527673C>ACA412201330TYMPc.561G>T (p.Gln187His)
c.45G>T (p.Gln15His)
n.680G>T
c.272G>T (p.Arg91Ile)
c.17G>T
c.462G>T (p.Gln154His)
n.686G>T
n.848G>T
22g.50527673C>GCA412201331TYMPc.561G>C (p.Gln187His)
c.45G>C (p.Gln15His)
n.680G>C
c.272G>C (p.Arg91Thr)
c.17G>C
c.462G>C (p.Gln154His)
n.686G>C
n.848G>C
 COSMIC
22g.50527673C>TCA515273812TYMPc.561G>A (p.Gln187=)
c.45G>A (p.Gln15=)
n.680G>A
c.272G>A (p.Arg91Lys)
c.17G>A
c.462G>A (p.Gln154=)
n.686G>A
n.848G>A
 ClinVar dbSNP gnomAD v4
22g.50527674T>ACA412201332TYMPc.560A>T (p.Gln187Leu)
c.44A>T (p.Gln15Leu)
n.679A>T
c.271A>T (p.Arg91Ter)
c.16A>T
c.461A>T (p.Gln154Leu)
n.685A>T
n.847A>T
22g.50527674T>CCA412201335TYMPc.560A>G (p.Gln187Arg)
c.44A>G (p.Gln15Arg)
n.679A>G
c.271A>G (p.Arg91Gly)
c.16A>G
c.461A>G (p.Gln154Arg)
n.685A>G
n.847A>G
22g.50527674T>GCA412201336TYMPc.560A>C (p.Gln187Pro)
c.44A>C (p.Gln15Pro)
n.679A>C
c.271A>C (p.Arg91=)
c.16A>C
c.461A>C (p.Gln154Pro)
n.685A>C
n.847A>C
22g.50527679_50527680insGCTGTGACCCCA2657567047TYMPc.560_561insCAGCGGGTCA (p.Gln187HisfsTer6)
c.44_45insCAGCGGGTCA (p.Gln15HisfsTer6)
n.679_680insCAGCGGGTCA
c.271_272insCAGCGGGTCA (p.Arg91ThrfsTer?)
c.16_17insCAGCGGGTCA
c.461_462insCAGCGGGTCA (p.Gln154HisfsTer6)
n.685_686insCAGCGGGTCA
n.847_848insCAGCGGGTCA
 gnomAD v4
22g.50527675G>ACA412201339TYMPc.559C>T (p.Gln187Ter)
c.43C>T (p.Gln15Ter)
n.678C>T
c.270C>T (p.Val90=)
c.15C>T
c.460C>T (p.Gln154Ter)
n.684C>T
n.846C>T
 ClinVar dbSNP
22g.50527675G>CCA412201340TYMPc.559C>G (p.Gln187Glu)
c.43C>G (p.Gln15Glu)
n.678C>G
c.270C>G (p.Val90=)
c.15C>G
c.460C>G (p.Gln154Glu)
n.684C>G
n.846C>G
22g.50527675G=CA2410908720TYMPc.559C= (p.Gln187=)
c.43C= (p.Gln15=)
n.678C=
c.270C= (p.Val90=)
c.15C=
c.460C= (p.Gln154=)
n.684C=
n.846C=
22g.50527675G>TCA325562786TYMPc.559C>A (p.Gln187Lys)
c.43C>A (p.Gln15Lys)
n.678C>A
c.270C>A (p.Val90=)
c.15C>A
c.460C>A (p.Gln154Lys)
n.684C>A
n.846C>A
 dbSNP gnomAD v4
22g.50527676A>CCA515273825TYMPc.558T>G (p.Gly186=)
c.42T>G (p.Gly14=)
n.677T>G
c.269T>G (p.Val90Gly)
c.14T>G
c.459T>G (p.Gly153=)
n.683T>G
n.845T>G
22g.50527676A>GCA515273827TYMPc.558T>C (p.Gly186=)
c.42T>C (p.Gly14=)
n.677T>C
c.269T>C (p.Val90Ala)
c.14T>C
c.459T>C (p.Gly153=)
n.683T>C
n.845T>C
22g.50527676A>TCA515273829TYMPc.558T>A (p.Gly186=)
c.42T>A (p.Gly14=)
n.677T>A
c.269T>A (p.Val90Asp)
c.14T>A
c.459T>A (p.Gly153=)
n.683T>A
n.845T>A
22g.50527677C>ACA412201344TYMPc.557G>T (p.Gly186Val)
c.41G>T (p.Gly14Val)
n.676G>T
c.268G>T (p.Val90Phe)
c.13G>T
c.458G>T (p.Gly153Val)
n.682G>T
n.844G>T
22g.50527677C=CA2410908721TYMPc.557G= (p.Gly186=)
c.41G= (p.Gly14=)
n.676G=
c.268G= (p.Val90=)
c.13G=
c.458G= (p.Gly153=)
n.682G=
n.844G=
22g.50527677C>GCA412201347TYMPc.557G>C (p.Gly186Ala)
c.41G>C (p.Gly14Ala)
n.676G>C
c.268G>C (p.Val90Leu)
c.13G>C
c.458G>C (p.Gly153Ala)
n.682G>C
n.844G>C
22g.50527677C>TCA10321699TYMPc.557G>A (p.Gly186Asp)
c.41G>A (p.Gly14Asp)
n.676G>A
c.268G>A (p.Val90Ile)
c.13G>A
c.458G>A (p.Gly153Asp)
n.682G>A
n.844G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50527677_50527705delinsCCCACGATACAGCAGCCCGCCTGGTCCAGCA2410908722TYMPc.529_557delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG (p.Leu177=)
c.13_41delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG (p.Leu5=)
n.648_676delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG
c.240_268delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG (p.Cys80=)
c.430_458delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG (p.Leu144=)
n.654_682delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG
n.816_844delinsCTGGACCAGGCGGGCTGCTGTATCGTGGG
22g.50527678C>ACA412201352TYMPc.556G>T (p.Gly186Cys)
c.40G>T (p.Gly14Cys)
n.675G>T
c.267G>T (p.Trp89Cys)
c.12G>T
c.457G>T (p.Gly153Cys)
n.681G>T
n.843G>T
22g.50527678C>GCA412201354TYMPc.556G>C (p.Gly186Arg)
c.40G>C (p.Gly14Arg)
n.675G>C
c.267G>C (p.Trp89Cys)
c.12G>C
c.457G>C (p.Gly153Arg)
n.681G>C
n.843G>C
22g.50527678C>TCA412201356TYMPc.556G>A (p.Gly186Ser)
c.40G>A (p.Gly14Ser)
n.675G>A
c.267G>A (p.Trp89Ter)
c.12G>A
c.457G>A (p.Gly153Ser)
n.681G>A
n.843G>A
22g.50527679_50527706delCA640357828TYMPc.529_556del (p.Leu177ValfsTer19)
c.13_40del (p.Leu5ValfsTer19)
n.648_675del
c.240_267del (p.Cys80TrpfsTer4)
c.430_457del (p.Leu144ValfsTer19)
n.654_681del
n.816_843del
 dbSNP gnomAD v2 gnomAD v4
22g.50527679C>ACA515273841TYMPc.555G>T (p.Val185=)
c.39G>T (p.Val13=)
n.674G>T
c.266G>T (p.Trp89Leu)
c.11G>T
c.456G>T (p.Val152=)
n.680G>T
n.842G>T
22g.50527679C>GCA515273843TYMPc.555G>C (p.Val185=)
c.39G>C (p.Val13=)
n.674G>C
c.266G>C (p.Trp89Ser)
c.11G>C
c.456G>C (p.Val152=)
n.680G>C
n.842G>C
22g.50527679C>TCA515273846TYMPc.555G>A (p.Val185=)
c.39G>A (p.Val13=)
n.674G>A
c.266G>A (p.Trp89Ter)
c.11G>A
c.456G>A (p.Val152=)
n.680G>A
n.842G>A
22g.50527680A=CA2410908723TYMPc.554T= (p.Val185=)
c.38T= (p.Val13=)
n.673T=
c.265T= (p.Trp89=)
c.10T=
c.455T= (p.Val152=)
n.679T=
n.841T=
22g.50527680A>CCA412201365TYMPc.554T>G (p.Val185Gly)
c.38T>G (p.Val13Gly)
n.673T>G
c.265T>G (p.Trp89Gly)
c.10T>G
c.455T>G (p.Val152Gly)
n.679T>G
n.841T>G
22g.50527680A>GCA412201360TYMPc.554T>C (p.Val185Ala)
c.38T>C (p.Val13Ala)
n.673T>C
c.265T>C (p.Trp89Arg)
c.10T>C
c.455T>C (p.Val152Ala)
n.679T>C
n.841T>C
22g.50527680A>TCA412201359TYMPc.554T>A (p.Val185Glu)
c.38T>A (p.Val13Glu)
n.673T>A
c.265T>A (p.Trp89Arg)
c.10T>A
c.455T>A (p.Val152Glu)
n.679T>A
n.841T>A
 dbSNP gnomAD v4
22g.50527681C>ACA412201367TYMPc.553G>T (p.Val185Leu)
c.37G>T (p.Val13Leu)
n.672G>T
c.264G>T (p.Ser88=)
c.9G>T
c.454G>T (p.Val152Leu)
n.678G>T
n.840G>T
22g.50527681C>GCA412201368TYMPc.553G>C (p.Val185Leu)
c.37G>C (p.Val13Leu)
n.672G>C
c.264G>C (p.Ser88=)
c.9G>C
c.454G>C (p.Val152Leu)
n.678G>C
n.840G>C
22g.50527681C>TCA412201370TYMPc.553G>A (p.Val185Met)
c.37G>A (p.Val13Met)
n.672G>A
c.264G>A (p.Ser88=)
c.9G>A
c.454G>A (p.Val152Met)
n.678G>A
n.840G>A
 gnomAD v4
22g.50527682G>ACA515273856TYMPc.552C>T (p.Ile184=)
c.36C>T (p.Ile12=)
n.671C>T
c.263C>T (p.Ser88Leu)
c.8C>T
c.453C>T (p.Ile151=)
n.677C>T
n.839C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527682G>CCA412201372TYMPc.552C>G (p.Ile184Met)
c.36C>G (p.Ile12Met)
n.671C>G
c.263C>G (p.Ser88Trp)
c.8C>G
c.453C>G (p.Ile151Met)
n.677C>G
n.839C>G
22g.50527682G=CA2410908724TYMPc.552C= (p.Ile184=)
c.36C= (p.Ile12=)
n.671C=
c.263C= (p.Ser88=)
c.8C=
c.453C= (p.Ile151=)
n.677C=
n.839C=
22g.50527682G>TCA515273860TYMPc.552C>A (p.Ile184=)
c.36C>A (p.Ile12=)
n.671C>A
c.263C>A (p.Ser88Ter)
c.8C>A
c.453C>A (p.Ile151=)
n.677C>A
n.839C>A
22g.50527683A>CCA412201375TYMPc.551T>G (p.Ile184Ser)
c.35T>G (p.Ile12Ser)
n.670T>G
c.262T>G (p.Ser88Ala)
c.7T>G
c.452T>G (p.Ile151Ser)
n.676T>G
n.838T>G
22g.50527683A>GCA412201376TYMPc.551T>C (p.Ile184Thr)
c.35T>C (p.Ile12Thr)
n.670T>C
c.262T>C (p.Ser88Pro)
c.7T>C
c.452T>C (p.Ile151Thr)
n.676T>C
n.838T>C
 gnomAD v4
22g.50527683A>TCA412201377TYMPc.551T>A (p.Ile184Asn)
c.35T>A (p.Ile12Asn)
n.670T>A
c.262T>A (p.Ser88Thr)
c.7T>A
c.452T>A (p.Ile151Asn)
n.676T>A
n.838T>A
22g.50527684T>ACA412201379TYMPc.550A>T (p.Ile184Phe)
c.34A>T (p.Ile12Phe)
n.669A>T
c.261A>T (p.Val87=)
c.6A>T
c.451A>T (p.Ile151Phe)
n.675A>T
n.837A>T
22g.50527684T>CCA412201381TYMPc.550A>G (p.Ile184Val)
c.34A>G (p.Ile12Val)
n.669A>G
c.261A>G (p.Val87=)
c.6A>G
c.451A>G (p.Ile151Val)
n.675A>G
n.837A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527684T>GCA412201383TYMPc.550A>C (p.Ile184Leu)
c.34A>C (p.Ile12Leu)
n.669A>C
c.261A>C (p.Val87=)
c.6A>C
c.451A>C (p.Ile151Leu)
n.675A>C
n.837A>C
 COSMIC
22g.50527684T=CA2410908725TYMPc.550A= (p.Ile184=)
c.34A= (p.Ile12=)
n.669A=
c.261A= (p.Val87=)
c.6A=
c.451A= (p.Ile151=)
n.675A=
n.837A=
22g.50527685A>CCA412201385TYMPc.549T>G (p.Cys183Trp)
c.33T>G (p.Cys11Trp)
n.668T>G
c.260T>G (p.Val87Gly)
c.5T>G
c.450T>G (p.Cys150Trp)
n.674T>G
n.836T>G
22g.50527685A>GCA515273874TYMPc.549T>C (p.Cys183=)
c.33T>C (p.Cys11=)
n.668T>C
c.260T>C (p.Val87Ala)
c.5T>C
c.450T>C (p.Cys150=)
n.674T>C
n.836T>C
 gnomAD v4
22g.50527685A>TCA412201387TYMPc.549T>A (p.Cys183Ter)
c.33T>A (p.Cys11Ter)
n.668T>A
c.260T>A (p.Val87Glu)
c.5T>A
c.450T>A (p.Cys150Ter)
n.674T>A
n.836T>A
22g.50527686C>ACA412201389TYMPc.548G>T (p.Cys183Phe)
c.32G>T (p.Cys11Phe)
n.667G>T
c.259G>T (p.Val87Leu)
c.4G>T
c.449G>T (p.Cys150Phe)
n.673G>T
n.835G>T
22g.50527686C>GCA412201394TYMPc.548G>C (p.Cys183Ser)
c.32G>C (p.Cys11Ser)
n.667G>C
c.259G>C (p.Val87Leu)
c.4G>C
c.449G>C (p.Cys150Ser)
n.673G>C
n.835G>C
22g.50527686C>TCA412201392TYMPc.548G>A (p.Cys183Tyr)
c.32G>A (p.Cys11Tyr)
n.667G>A
c.259G>A (p.Val87Ile)
c.4G>A
c.449G>A (p.Cys150Tyr)
n.673G>A
n.835G>A
 gnomAD v4
22g.50527693_50527709dupCA2695200132TYMPc.532_548dup (p.Cys183TrpfsTer28)
c.16_32dup (p.Cys11TrpfsTer28)
n.651_667dup
c.243_259dup (p.Val87GlyfsTer12)
c.433_449dup (p.Cys150TrpfsTer28)
n.657_673dup
n.819_835dup
 ClinVar
22g.50527687A>CCA412201397TYMPc.547T>G (p.Cys183Gly)
c.31T>G (p.Cys11Gly)
n.666T>G
c.258T>G (p.Ala86=)
c.3T>G
c.448T>G (p.Cys150Gly)
n.672T>G
n.834T>G
22g.50527687A>GCA412201401TYMPc.547T>C (p.Cys183Arg)
c.31T>C (p.Cys11Arg)
n.666T>C
c.258T>C (p.Ala86=)
c.3T>C
c.448T>C (p.Cys150Arg)
n.672T>C
n.834T>C
 ClinVar gnomAD v4
22g.50527687A>TCA412201399TYMPc.547T>A (p.Cys183Ser)
c.31T>A (p.Cys11Ser)
n.666T>A
c.258T>A (p.Ala86=)
c.3T>A
c.448T>A (p.Cys150Ser)
n.672T>A
n.834T>A
22g.50527688G>ACA515273893TYMPc.546C>T (p.Cys182=)
c.30C>T (p.Cys10=)
n.665C>T
c.257C>T (p.Ala86Val)
c.2C>T
c.447C>T (p.Cys149=)
n.671C>T
n.833C>T
 COSMIC
22g.50527688G>CCA412201403TYMPc.546C>G (p.Cys182Trp)
c.30C>G (p.Cys10Trp)
n.665C>G
c.257C>G (p.Ala86Gly)
c.2C>G
c.447C>G (p.Cys149Trp)
n.671C>G
n.833C>G
22g.50527688G>TCA412201405TYMPc.546C>A (p.Cys182Ter)
c.30C>A (p.Cys10Ter)
n.665C>A
c.257C>A (p.Ala86Asp)
c.2C>A
c.447C>A (p.Cys149Ter)
n.671C>A
n.833C>A
22g.50527689C>ACA412201407TYMPc.545G>T (p.Cys182Phe)
c.29G>T (p.Cys10Phe)
n.664G>T
c.256G>T (p.Ala86Ser)
c.1G>T
c.446G>T (p.Cys149Phe)
n.670G>T
n.832G>T
22g.50527689C>GCA412201412TYMPc.545G>C (p.Cys182Ser)
c.29G>C (p.Cys10Ser)
n.664G>C
c.256G>C (p.Ala86Pro)
c.1G>C
c.446G>C (p.Cys149Ser)
n.670G>C
n.832G>C
22g.50527689C>TCA412201410TYMPc.545G>A (p.Cys182Tyr)
c.29G>A (p.Cys10Tyr)
n.664G>A
c.256G>A (p.Ala86Thr)
c.1G>A
c.446G>A (p.Cys149Tyr)
n.670G>A
n.832G>A
22g.50527690A>CCA412201415TYMPc.544T>G (p.Cys182Gly)
c.28T>G (p.Cys10Gly)
n.663T>G
c.255T>G (p.Ala85=)
c.445T>G (p.Cys149Gly)
n.669T>G
n.831T>G
22g.50527690A>GCA412201419TYMPc.544T>C (p.Cys182Arg)
c.28T>C (p.Cys10Arg)
n.663T>C
c.255T>C (p.Ala85=)
c.445T>C (p.Cys149Arg)
n.669T>C
n.831T>C
22g.50527690A>TCA412201418TYMPc.544T>A (p.Cys182Ser)
c.28T>A (p.Cys10Ser)
n.663T>A
c.255T>A (p.Ala85=)
c.445T>A (p.Cys149Ser)
n.669T>A
n.831T>A
22g.50527691G>ACA515273894TYMPc.543C>T (p.Gly181=)
c.27C>T (p.Gly9=)
n.662C>T
c.254C>T (p.Ala85Val)
c.444C>T (p.Gly148=)
n.668C>T
n.830C>T
22g.50527691G>CCA10321700TYMPc.543C>G (p.Gly181=)
c.27C>G (p.Gly9=)
n.662C>G
c.254C>G (p.Ala85Gly)
c.444C>G (p.Gly148=)
n.668C>G
n.830C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527691G=CA2410908726TYMPc.543C= (p.Gly181=)
c.27C= (p.Gly9=)
n.662C=
c.254C= (p.Ala85=)
c.444C= (p.Gly148=)
n.668C=
n.830C=
22g.50527691G>TCA515273899TYMPc.543C>A (p.Gly181=)
c.27C>A (p.Gly9=)
n.662C>A
c.254C>A (p.Ala85Asp)
c.444C>A (p.Gly148=)
n.668C>A
n.830C>A
 dbSNP gnomAD v4
22g.50527692C>ACA412201422TYMPc.542G>T (p.Gly181Val)
c.26G>T (p.Gly9Val)
n.661G>T
c.253G>T (p.Ala85Ser)
c.443G>T (p.Gly148Val)
n.667G>T
n.829G>T
22g.50527692C=CA2410908727TYMPc.542G= (p.Gly181=)
c.26G= (p.Gly9=)
n.661G=
c.253G= (p.Ala85=)
c.443G= (p.Gly148=)
n.667G=
n.829G=
22g.50527692C>GCA412201425TYMPc.542G>C (p.Gly181Ala)
c.26G>C (p.Gly9Ala)
n.661G>C
c.253G>C (p.Ala85Pro)
c.443G>C (p.Gly148Ala)
n.667G>C
n.829G>C
22g.50527692C>TCA10321701TYMPc.542G>A (p.Gly181Asp)
c.26G>A (p.Gly9Asp)
n.661G>A
c.253G>A (p.Ala85Thr)
c.443G>A (p.Gly148Asp)
n.667G>A
n.829G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50527693C>ACA412201427TYMPc.541G>T (p.Gly181Cys)
c.25G>T (p.Gly9Cys)
n.660G>T
c.252G>T (p.Arg84=)
c.442G>T (p.Gly148Cys)
n.666G>T
n.828G>T
22g.50527693C=CA2410908728TYMPc.541G= (p.Gly181=)
c.25G= (p.Gly9=)
n.660G=
c.252G= (p.Arg84=)
c.442G= (p.Gly148=)
n.666G=
n.828G=
22g.50527693C>GCA412201431TYMPc.541G>C (p.Gly181Arg)
c.25G>C (p.Gly9Arg)
n.660G>C
c.252G>C (p.Arg84=)
c.442G>C (p.Gly148Arg)
n.666G>C
n.828G>C
22g.50527693C>TCA325562815TYMPc.541G>A (p.Gly181Ser)
c.25G>A (p.Gly9Ser)
n.660G>A
c.252G>A (p.Arg84=)
c.442G>A (p.Gly148Ser)
n.666G>A
n.828G>A
 dbSNP
22g.50527694C>ACA515273912TYMPc.540G>T (p.Ala180=)
c.24G>T (p.Ala8=)
n.659G>T
c.251G>T (p.Arg84Leu)
c.441G>T (p.Ala147=)
n.665G>T
n.827G>T
 dbSNP
22g.50527694C=CA2410908729TYMPc.540G= (p.Ala180=)
c.24G= (p.Ala8=)
n.659G=
c.251G= (p.Arg84=)
c.441G= (p.Ala147=)
n.665G=
n.827G=
22g.50527694C>GCA515273916TYMPc.540G>C (p.Ala180=)
c.24G>C (p.Ala8=)
n.659G>C
c.251G>C (p.Arg84Pro)
c.441G>C (p.Ala147=)
n.665G>C
n.827G>C
 gnomAD v4
22g.50527694C>TCA515273914TYMPc.540G>A (p.Ala180=)
c.24G>A (p.Ala8=)
n.659G>A
c.251G>A (p.Arg84Gln)
c.441G>A (p.Ala147=)
n.665G>A
n.827G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50527695G>ACA412201442TYMPc.539C>T (p.Ala180Val)
c.23C>T (p.Ala8Val)
n.658C>T
c.250C>T (p.Arg84Trp)
c.440C>T (p.Ala147Val)
n.664C>T
n.826C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50527695G>CCA412201444TYMPc.539C>G (p.Ala180Gly)
c.23C>G (p.Ala8Gly)
n.658C>G
c.250C>G (p.Arg84Gly)
c.440C>G (p.Ala147Gly)
n.664C>G
n.826C>G
22g.50527695G=CA2410908730TYMPc.539C= (p.Ala180=)
c.23C= (p.Ala8=)
n.658C=
c.250C= (p.Arg84=)
c.440C= (p.Ala147=)
n.664C=
n.826C=
22g.50527695G>TCA412201446TYMPc.539C>A (p.Ala180Glu)
c.23C>A (p.Ala8Glu)
n.658C>A
c.250C>A (p.Arg84=)
c.440C>A (p.Ala147Glu)
n.664C>A
n.826C>A
 gnomAD v4
22g.50527696_50527699dupCA2695200133TYMPc.536_539dup (p.Cys182GlyfsTer9)
c.20_23dup (p.Cys10GlyfsTer9)
n.655_658dup
c.247_250dup (p.Arg84GlnfsTer?)
c.437_440dup (p.Cys149GlyfsTer9)
n.661_664dup
n.823_826dup
 ClinVar
22g.50527696C>ACA412201454TYMPc.538G>T (p.Ala180Ser)
c.22G>T (p.Ala8Ser)
n.657G>T
c.249G>T (p.Arg83Ser)
c.439G>T (p.Ala147Ser)
n.663G>T
n.825G>T
22g.50527696C=CA2410908731TYMPc.538G= (p.Ala180=)
c.22G= (p.Ala8=)
n.657G=
c.249G= (p.Arg83=)
c.439G= (p.Ala147=)
n.663G=
n.825G=
22g.50527696C>GCA412201449TYMPc.538G>C (p.Ala180Pro)
c.22G>C (p.Ala8Pro)
n.657G>C
c.249G>C (p.Arg83Ser)
c.439G>C (p.Ala147Pro)
n.663G>C
n.825G>C
 dbSNP gnomAD v3 gnomAD v4
22g.50527696C>TCA412201451TYMPc.538G>A (p.Ala180Thr)
c.22G>A (p.Ala8Thr)
n.657G>A
c.249G>A (p.Arg83=)
c.439G>A (p.Ala147Thr)
n.663G>A
n.825G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.50527697C>ACA412201456TYMPc.537G>T (p.Gln179His)
c.21G>T (p.Gln7His)
n.656G>T
c.248G>T (p.Arg83Met)
c.438G>T (p.Gln146His)
n.662G>T
n.824G>T
22g.50527697C>GCA412201458TYMPc.537G>C (p.Gln179His)
c.21G>C (p.Gln7His)
n.656G>C
c.248G>C (p.Arg83Thr)
c.438G>C (p.Gln146His)
n.662G>C
n.824G>C
22g.50527697C>TCA515273928TYMPc.537G>A (p.Gln179=)
c.21G>A (p.Gln7=)
n.656G>A
c.248G>A (p.Arg83Lys)
c.438G>A (p.Gln146=)
n.662G>A
n.824G>A
22g.50527698T>ACA412201459TYMPc.536A>T (p.Gln179Leu)
c.20A>T (p.Gln7Leu)
n.655A>T
c.247A>T (p.Arg83Trp)
c.437A>T (p.Gln146Leu)
n.661A>T
n.823A>T
22g.50527698T>CCA412201460TYMPc.536A>G (p.Gln179Arg)
c.20A>G (p.Gln7Arg)
n.655A>G
c.247A>G (p.Arg83Gly)
c.437A>G (p.Gln146Arg)
n.661A>G
n.823A>G
22g.50527698T>GCA412201461TYMPc.536A>C (p.Gln179Pro)
c.20A>C (p.Gln7Pro)
n.655A>C
c.247A>C (p.Arg83=)
c.437A>C (p.Gln146Pro)
n.661A>C
n.823A>C
22g.50527699G>ACA412201462TYMPc.535C>T (p.Gln179Ter)
c.19C>T (p.Gln7Ter)
n.654C>T
c.246C>T (p.Thr82=)
c.436C>T (p.Gln146Ter)
n.660C>T
n.822C>T
 ClinVar dbSNP
22g.50527699G>CCA412201463TYMPc.535C>G (p.Gln179Glu)
c.19C>G (p.Gln7Glu)
n.654C>G
c.246C>G (p.Thr82=)
c.436C>G (p.Gln146Glu)
n.660C>G
n.822C>G
22g.50527699G=CA2410908732TYMPc.535C= (p.Gln179=)
c.19C= (p.Gln7=)
n.654C=
c.246C= (p.Thr82=)
c.436C= (p.Gln146=)
n.660C=
n.822C=
22g.50527699G>TCA412201464TYMPc.535C>A (p.Gln179Lys)
c.19C>A (p.Gln7Lys)
n.654C>A
c.246C>A (p.Thr82=)
c.436C>A (p.Gln146Lys)
n.660C>A
n.822C>A
 gnomAD v4
22g.50527700G>ACA515273936TYMPc.534C>T (p.Asp178=)
c.18C>T (p.Asp6=)
n.653C>T
c.245C>T (p.Thr82Ile)
c.435C>T (p.Asp145=)
n.659C>T
n.821C>T
22g.50527700G>CCA412201465TYMPc.534C>G (p.Asp178Glu)
c.18C>G (p.Asp6Glu)
n.653C>G
c.245C>G (p.Thr82Ser)
c.435C>G (p.Asp145Glu)
n.659C>G
n.821C>G
22g.50527700G>TCA412201466TYMPc.534C>A (p.Asp178Glu)
c.18C>A (p.Asp6Glu)
n.653C>A
c.245C>A (p.Thr82Asn)
c.435C>A (p.Asp145Glu)
n.659C>A
n.821C>A
22g.50527701T>ACA412201469TYMPc.533A>T (p.Asp178Val)
c.17A>T (p.Asp6Val)
n.652A>T
c.244A>T (p.Thr82Ser)
c.434A>T (p.Asp145Val)
n.658A>T
n.820A>T
22g.50527701T>CCA412201470TYMPc.533A>G (p.Asp178Gly)
c.17A>G (p.Asp6Gly)
n.652A>G
c.244A>G (p.Thr82Ala)
c.434A>G (p.Asp145Gly)
n.658A>G
n.820A>G
 dbSNP
22g.50527701T>GCA412201467TYMPc.533A>C (p.Asp178Ala)
c.17A>C (p.Asp6Ala)
n.652A>C
c.244A>C (p.Thr82Pro)
c.434A>C (p.Asp145Ala)
n.658A>C
n.820A>C
22g.50527701T=CA2410908733TYMPc.533A= (p.Asp178=)
c.17A= (p.Asp6=)
n.652A=
c.244A= (p.Thr82=)
c.434A= (p.Asp145=)
n.658A=
n.820A=
22g.50527702C>ACA412201473TYMPc.532G>T (p.Asp178Tyr)
c.16G>T (p.Asp6Tyr)
n.651G>T
c.243G>T (p.Trp81Cys)
c.433G>T (p.Asp145Tyr)
n.657G>T
n.819G>T
22g.50527702C>GCA412201474TYMPc.532G>C (p.Asp178His)
c.16G>C (p.Asp6His)
n.651G>C
c.243G>C (p.Trp81Cys)
c.433G>C (p.Asp145His)
n.657G>C
n.819G>C
22g.50527702C>TCA412201482TYMPc.532G>A (p.Asp178Asn)
c.16G>A (p.Asp6Asn)
n.651G>A
c.243G>A (p.Trp81Ter)
c.433G>A (p.Asp145Asn)
n.657G>A
n.819G>A
 gnomAD v4
22g.50527703C>ACA515273945TYMPc.531G>T (p.Leu177=)
c.15G>T (p.Leu5=)
n.650G>T
c.242G>T (p.Trp81Leu)
c.432G>T (p.Leu144=)
n.656G>T
n.818G>T
22g.50527703C>GCA515273949TYMPc.531G>C (p.Leu177=)
c.15G>C (p.Leu5=)
n.650G>C
c.242G>C (p.Trp81Ser)
c.432G>C (p.Leu144=)
n.656G>C
n.818G>C
22g.50527703C>TCA515273943TYMPc.531G>A (p.Leu177=)
c.15G>A (p.Leu5=)
n.650G>A
c.242G>A (p.Trp81Ter)
c.432G>A (p.Leu144=)
n.656G>A
n.818G>A
22g.50527704A=CA2410908734TYMPc.530T= (p.Leu177=)
c.14T= (p.Leu5=)
n.649T=
c.241T= (p.Trp81=)
c.431T= (p.Leu144=)
n.655T=
n.817T=
22g.50527704A>CCA412201485TYMPc.530T>G (p.Leu177Arg)
c.14T>G (p.Leu5Arg)
n.649T>G
c.241T>G (p.Trp81Gly)
c.431T>G (p.Leu144Arg)
n.655T>G
n.817T>G
22g.50527704A>GCA16616782TYMPc.530T>C (p.Leu177Pro)
c.14T>C (p.Leu5Pro)
n.649T>C
c.241T>C (p.Trp81Arg)
c.431T>C (p.Leu144Pro)
n.655T>C
n.817T>C
 ClinVar dbSNP gnomAD v4
22g.50527704A>TCA412201487TYMPc.530T>A (p.Leu177Gln)
c.14T>A (p.Leu5Gln)
n.649T>A
c.241T>A (p.Trp81Arg)
c.431T>A (p.Leu144Gln)
n.655T>A
n.817T>A

Number of alleles fetched