Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched