Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.78870890A>GCA2576410264TIMP2c.109+8T>C (n.109+8T>C)
c.340+8T>C (n.340+8T>C)
17g.78870891_78870892delCA2810547047TIMP2c.109+7_109+8del (n.109+7_109+8del)
c.340+7_340+8del (n.340+7_340+8del)
17g.78870891T>CCA2640201695TIMP2c.109+7A>G (n.109+7A>G)
c.340+7A>G (n.340+7A>G)
 gnomAD v4
17g.78870892A=CA2277198155TIMP2c.109+6T= (n.109+6T=)
c.340+6T= (n.340+6T=)
17g.78870892A>GCA8807697TIMP2c.109+6T>C (n.109+6T>C)
c.340+6T>C (n.340+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870893C>ACA2810547048TIMP2c.109+5G>T (n.109+5G>T)
c.340+5G>T (n.340+5G>T)
17g.78870893C=CA2277198156TIMP2c.109+5G= (n.109+5G=)
c.340+5G= (n.340+5G=)
17g.78870893C>TCA8807698TIMP2c.109+5G>A (n.109+5G>A)
c.340+5G>A (n.340+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870895C>ACA2640201696TIMP2c.109+3G>T (n.109+3G>T)
c.340+3G>T (n.340+3G>T)
 gnomAD v4
17g.78870895C=CA2277198157TIMP2c.109+3G= (n.109+3G=)
c.340+3G= (n.340+3G=)
17g.78870895C>TCA8807699TIMP2c.109+3G>A (n.109+3G>A)
c.340+3G>A (n.340+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870896A>CCA401286517TIMP2c.109+2T>G (n.109+2T>G)
c.340+2T>G (n.340+2T>G)
17g.78870896A>GCA401286514TIMP2c.109+2T>C (n.109+2T>C)
c.340+2T>C (n.340+2T>C)
17g.78870896A>TCA401286511TIMP2c.109+2T>A (n.109+2T>A)
c.340+2T>A (n.340+2T>A)
17g.78870897C>ACA401286520TIMP2c.109+1G>T (n.109+1G>T)
c.340+1G>T (n.340+1G>T)
17g.78870897C>GCA401286531TIMP2c.109+1G>C (n.109+1G>C)
c.340+1G>C (n.340+1G>C)
17g.78870897C>TCA401286533TIMP2c.109+1G>A (n.109+1G>A)
c.340+1G>A (n.340+1G>A)
17g.78870898C>ACA401286538TIMP2c.109G>T (p.Gly37Ter)
c.109G>T (p.Ala37Ser)
c.340G>T (p.Gly114Ter)
17g.78870898C>GCA401286540TIMP2c.109G>C (p.Gly37Arg)
c.109G>C (p.Ala37Pro)
c.340G>C (p.Gly114Arg)
17g.78870898C>TCA401286544TIMP2c.109G>A (p.Gly37Arg)
c.109G>A (p.Ala37Thr)
c.340G>A (p.Gly114Arg)
17g.78870899T>ACA502131010TIMP2c.108A>T (p.Ala36=)
c.339A>T (p.Ala113=)
17g.78870899T>CCA502131008TIMP2c.108A>G (p.Ala36=)
c.339A>G (p.Ala113=)
 gnomAD v4
17g.78870899T>GCA502131006TIMP2c.108A>C (p.Ala36=)
c.339A>C (p.Ala113=)
17g.78870900G>ACA401286547TIMP2c.107C>T (p.Ala36Val)
c.338C>T (p.Ala113Val)
 dbSNP gnomAD v2 gnomAD v4
17g.78870900G>CCA401286551TIMP2c.107C>G (p.Ala36Gly)
c.338C>G (p.Ala113Gly)
17g.78870900G=CA2277198158TIMP2c.107C= (p.Ala36=)
c.338C= (p.Ala113=)
17g.78870900G>TCA401286549TIMP2c.107C>A (p.Ala36Glu)
c.338C>A (p.Ala113Glu)
17g.78870901C>ACA401286555TIMP2c.106G>T (p.Ala36Ser)
c.337G>T (p.Ala113Ser)
 gnomAD v4
17g.78870901C>GCA401286560TIMP2c.106G>C (p.Ala36Pro)
c.337G>C (p.Ala113Pro)
17g.78870901C>TCA401286563TIMP2c.106G>A (p.Ala36Thr)
c.337G>A (p.Ala113Thr)
17g.78870902A>CCA401286565TIMP2c.105T>G (p.Ile35Met)
c.336T>G (p.Ile112Met)
17g.78870902A>GCA502131020TIMP2c.105T>C (p.Ile35=)
c.336T>C (p.Ile112=)
17g.78870902A>TCA502131022TIMP2c.105T>A (p.Ile35=)
c.336T>A (p.Ile112=)
17g.78870903A>CCA401286569TIMP2c.104T>G (p.Ile35Ser)
c.335T>G (p.Ile112Ser)
17g.78870903A>GCA401286573TIMP2c.104T>C (p.Ile35Thr)
c.335T>C (p.Ile112Thr)
17g.78870903A>TCA401286575TIMP2c.104T>A (p.Ile35Asn)
c.335T>A (p.Ile112Asn)
17g.78870904T>ACA401286585TIMP2c.103A>T (p.Ile35Phe)
c.334A>T (p.Ile112Phe)
17g.78870904T>CCA401286588TIMP2c.103A>G (p.Ile35Val)
c.334A>G (p.Ile112Val)
17g.78870904T>GCA401286591TIMP2c.103A>C (p.Ile35Leu)
c.334A>C (p.Ile112Leu)
 gnomAD v4
17g.78870905G>ACA8807700TIMP2c.102C>T (p.Leu34=)
c.333C>T (p.Leu111=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.78870905G>CCA502131032TIMP2c.102C>G (p.Leu34=)
c.333C>G (p.Leu111=)
17g.78870905G=CA2277198159TIMP2c.102C= (p.Leu34=)
c.333C= (p.Leu111=)
17g.78870905G>TCA502131034TIMP2c.102C>A (p.Leu34=)
c.333C>A (p.Leu111=)
17g.78870906A>CCA401286597TIMP2c.101T>G (p.Leu34Arg)
c.332T>G (p.Leu111Arg)
17g.78870906A>GCA401286599TIMP2c.101T>C (p.Leu34Pro)
c.332T>C (p.Leu111Pro)
17g.78870906A>TCA401286598TIMP2c.101T>A (p.Leu34His)
c.332T>A (p.Leu111His)
17g.78870907G>ACA401286601TIMP2c.100C>T (p.Leu34Phe)
c.331C>T (p.Leu111Phe)
17g.78870907G>CCA401286603TIMP2c.100C>G (p.Leu34Val)
c.331C>G (p.Leu111Val)
17g.78870907G>TCA401286609TIMP2c.100C>A (p.Leu34Ile)
c.331C>A (p.Leu111Ile)
17g.78870908A>CCA401286611TIMP2c.99T>G (p.Tyr33Ter)
c.330T>G (p.Tyr110Ter)
17g.78870908A>GCA502131043TIMP2c.99T>C (p.Tyr33=)
c.330T>C (p.Tyr110=)
17g.78870908A>TCA401286615TIMP2c.99T>A (p.Tyr33Ter)
c.330T>A (p.Tyr110Ter)
17g.78870909T>ACA401286620TIMP2c.98A>T (p.Tyr33Phe)
c.329A>T (p.Tyr110Phe)
17g.78870909T>CCA401286619TIMP2c.98A>G (p.Tyr33Cys)
c.329A>G (p.Tyr110Cys)
17g.78870909T>GCA401286618TIMP2c.98A>C (p.Tyr33Ser)
c.329A>C (p.Tyr110Ser)
17g.78870910A>CCA401286623CEP295NL,TIMP2c.97T>G (p.Tyr33Asp)
c.328T>G (p.Tyr110Asp)
c.97T>G
17g.78870910A>GCA401286626CEP295NL,TIMP2c.97T>C (p.Tyr33His)
c.328T>C (p.Tyr110His)
c.97T>C
17g.78870910A>TCA401286628CEP295NL,TIMP2c.97T>A (p.Tyr33Asn)
c.328T>A (p.Tyr110Asn)
c.97T>A
17g.78870911T>ACA401286632CEP295NL,TIMP2c.96A>T (p.Glu32Asp)
c.327A>T (p.Glu109Asp)
 gnomAD v4
17g.78870911T>CCA8807701CEP295NL,TIMP2c.96A>G (p.Glu32=)
c.327A>G (p.Glu109=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870911T>GCA401286639CEP295NL,TIMP2c.96A>C (p.Glu32Asp)
c.327A>C (p.Glu109Asp)
 gnomAD v4
17g.78870911T=CA2277198160CEP295NL,TIMP2c.96A= (p.Glu32=)
c.327A= (p.Glu109=)
17g.78870914_78870917delCA2640201697CEP295NL,TIMP2c.93_96del (p.Lys31AsnfsTer28)
c.93_96del (p.Lys31AsnfsTer?)
c.324_327del (p.Lys108AsnfsTer28)
 gnomAD v4
17g.78870912T>ACA401286653CEP295NL,TIMP2c.95A>T (p.Glu32Val)
c.326A>T (p.Glu109Val)
17g.78870912T>CCA401286643CEP295NL,TIMP2c.95A>G (p.Glu32Gly)
c.326A>G (p.Glu109Gly)
17g.78870912T>GCA401286645CEP295NL,TIMP2c.95A>C (p.Glu32Ala)
c.326A>C (p.Glu109Ala)
17g.78870913C>ACA401286656CEP295NL,TIMP2c.94G>T (p.Glu32Ter)
c.325G>T (p.Glu109Ter)
17g.78870913C>GCA401286659CEP295NL,TIMP2c.94G>C (p.Glu32Gln)
c.325G>C (p.Glu109Gln)
17g.78870913C>TCA401286661CEP295NL,TIMP2c.94G>A (p.Glu32Lys)
c.325G>A (p.Glu109Lys)
17g.78870914C>ACA401286666CEP295NL,TIMP2c.93G>T (p.Lys31Asn)
c.324G>T (p.Lys108Asn)
17g.78870914C=CA2277198161CEP295NL,TIMP2c.93G= (p.Lys31=)
c.324G= (p.Lys108=)
17g.78870914C>GCA401286668CEP295NL,TIMP2c.93G>C (p.Lys31Asn)
c.324G>C (p.Lys108Asn)
17g.78870914C>TCA502131064CEP295NL,TIMP2c.93G>A (p.Lys31=)
c.324G>A (p.Lys108=)
 dbSNP gnomAD v2 gnomAD v4
17g.78870917_78870919delCA2640201698CEP295NL,TIMP2c.91_93del (p.Lys31del)
c.322_324del (p.Lys108del)
 gnomAD v4
17g.78870915T>ACA401286676CEP295NL,TIMP2c.92A>T (p.Lys31Met)
c.323A>T (p.Lys108Met)
17g.78870915T>CCA401286679CEP295NL,TIMP2c.92A>G (p.Lys31Arg)
c.323A>G (p.Lys108Arg)
17g.78870915T>GCA401286682CEP295NL,TIMP2c.92A>C (p.Lys31Thr)
c.323A>C (p.Lys108Thr)
17g.78870916T>ACA401286687CEP295NL,TIMP2c.91A>T (p.Lys31Ter)
c.322A>T (p.Lys108Ter)
17g.78870916T>CCA401286689CEP295NL,TIMP2c.91A>G (p.Lys31Glu)
c.322A>G (p.Lys108Glu)
17g.78870916T>GCA401286693CEP295NL,TIMP2c.91A>C (p.Lys31Gln)
c.322A>C (p.Lys108Gln)
17g.78870917C>ACA401286696CEP295NL,TIMP2c.90G>T (p.Lys30Asn)
c.321G>T (p.Lys107Asn)
17g.78870917C>GCA401286699CEP295NL,TIMP2c.90G>C (p.Lys30Asn)
c.321G>C (p.Lys107Asn)
17g.78870917C>TCA502131074CEP295NL,TIMP2c.90G>A (p.Lys30=)
c.321G>A (p.Lys107=)
17g.78870918T>ACA401286704CEP295NL,TIMP2c.89A>T (p.Lys30Met)
c.320A>T (p.Lys107Met)
17g.78870918T>CCA401286708CEP295NL,TIMP2c.89A>G (p.Lys30Arg)
c.320A>G (p.Lys107Arg)
17g.78870918T>GCA401286705CEP295NL,TIMP2c.89A>C (p.Lys30Thr)
c.320A>C (p.Lys107Thr)
17g.78870919T>ACA401286710CEP295NL,TIMP2c.88A>T (p.Lys30Ter)
c.319A>T (p.Lys107Ter)
17g.78870919T>CCA401286712CEP295NL,TIMP2c.88A>G (p.Lys30Glu)
c.319A>G (p.Lys107Glu)
17g.78870919T>GCA401286714CEP295NL,TIMP2c.88A>C (p.Lys30Gln)
c.319A>C (p.Lys107Gln)
17g.78870920_78870923delCA645599422CEP295NL,TIMP2c.85_88del (p.Gly29ArgfsTer30)
c.85_88del (p.Gly29ArgfsTer?)
c.316_319del (p.Gly106ArgfsTer30)
 COSMIC
17g.78870920T>ACA502131084CEP295NL,TIMP2c.87A>T (p.Gly29=)
c.318A>T (p.Gly106=)
17g.78870920T>CCA502131087CEP295NL,TIMP2c.87A>G (p.Gly29=)
c.318A>G (p.Gly106=)
17g.78870920T>GCA502131086CEP295NL,TIMP2c.87A>C (p.Gly29=)
c.318A>C (p.Gly106=)
17g.78870921C>ACA401286717CEP295NL,TIMP2c.86G>T (p.Gly29Val)
c.317G>T (p.Gly106Val)
17g.78870921C>GCA401286719CEP295NL,TIMP2c.86G>C (p.Gly29Ala)
c.317G>C (p.Gly106Ala)
17g.78870921C>TCA401286722CEP295NL,TIMP2c.86G>A (p.Gly29Glu)
c.317G>A (p.Gly106Glu)
17g.78870922C>ACA401286725CEP295NL,TIMP2c.85G>T (p.Gly29Ter)
c.316G>T (p.Gly106Ter)
17g.78870922C>GCA401286726CEP295NL,TIMP2c.85G>C (p.Gly29Arg)
c.316G>C (p.Gly106Arg)
17g.78870922C>TCA401286728CEP295NL,TIMP2c.85G>A (p.Gly29Arg)
c.316G>A (p.Gly106Arg)
17g.78870923T>ACA502131096CEP295NL,TIMP2c.84A>T (p.Gly28=)
c.315A>T (p.Gly105=)
 gnomAD v4
17g.78870923T>CCA502131098CEP295NL,TIMP2c.84A>G (p.Gly28=)
c.315A>G (p.Gly105=)
17g.78870923T>GCA502131099CEP295NL,TIMP2c.84A>C (p.Gly28=)
c.315A>C (p.Gly105=)
17g.78870924C>ACA401286730CEP295NL,TIMP2c.83G>T (p.Gly28Val)
c.314G>T (p.Gly105Val)
17g.78870924C>GCA401286731CEP295NL,TIMP2c.83G>C (p.Gly28Ala)
c.314G>C (p.Gly105Ala)
 gnomAD v4
17g.78870924C>TCA401286732CEP295NL,TIMP2c.83G>A (p.Gly28Glu)
c.314G>A (p.Gly105Glu)
17g.78870925C>ACA401286742CEP295NL,TIMP2c.82G>T (p.Gly28Ter)
c.313G>T (p.Gly105Ter)
17g.78870925C>GCA401286735CEP295NL,TIMP2c.82G>C (p.Gly28Arg)
c.313G>C (p.Gly105Arg)
17g.78870925C>TCA401286738CEP295NL,TIMP2c.82G>A (p.Gly28Arg)
c.313G>A (p.Gly105Arg)
17g.78870926A>CCA502131109CEP295NL,TIMP2c.81T>G (p.Val27=)
c.312T>G (p.Val104=)
17g.78870926A>GCA502131111CEP295NL,TIMP2c.81T>C (p.Val27=)
c.312T>C (p.Val104=)
17g.78870926A>TCA502131113CEP295NL,TIMP2c.81T>A (p.Val27=)
c.312T>A (p.Val104=)
17g.78870927A=CA2277198162CEP295NL,TIMP2c.80T= (p.Val27=)
c.311T= (p.Val104=)
17g.78870927A>CCA294435230CEP295NL,TIMP2c.80T>G (p.Val27Gly)
c.311T>G (p.Val104Gly)
 dbSNP
17g.78870927A>GCA8807702CEP295NL,TIMP2c.80T>C (p.Val27Ala)
c.311T>C (p.Val104Ala)
 dbSNP ExAC
17g.78870927A>TCA401286748CEP295NL,TIMP2c.80T>A (p.Val27Asp)
c.311T>A (p.Val104Asp)
 gnomAD v4
17g.78870928C>ACA401286750CEP295NL,TIMP2c.79G>T (p.Val27Phe)
c.310G>T (p.Val104Phe)
 gnomAD v4
17g.78870928C=CA2277198163CEP295NL,TIMP2c.79G= (p.Val27=)
c.310G= (p.Val104=)
17g.78870928C>GCA401286752CEP295NL,TIMP2c.79G>C (p.Val27Leu)
c.310G>C (p.Val104Leu)
17g.78870928C>TCA294435251CEP295NL,TIMP2c.79G>A (p.Val27Ile)
c.310G>A (p.Val104Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.78870929G>ACA502131122CEP295NL,TIMP2c.78C>T (p.Asp26=)
c.309C>T (p.Asp103=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78870929G>CCA401286754CEP295NL,TIMP2c.78C>G (p.Asp26Glu)
c.309C>G (p.Asp103Glu)
17g.78870929G=CA2277198164CEP295NL,TIMP2c.78C= (p.Asp26=)
c.309C= (p.Asp103=)
17g.78870929G>TCA401286756CEP295NL,TIMP2c.78C>A (p.Asp26Glu)
c.309C>A (p.Asp103Glu)
 dbSNP gnomAD v4
17g.78870930T>ACA401286759CEP295NL,TIMP2c.77A>T (p.Asp26Val)
c.308A>T (p.Asp103Val)
17g.78870930T>CCA401286760CEP295NL,TIMP2c.77A>G (p.Asp26Gly)
c.308A>G (p.Asp103Gly)
17g.78870930T>GCA401286762CEP295NL,TIMP2c.77A>C (p.Asp26Ala)
c.308A>C (p.Asp103Ala)
 gnomAD v4
17g.78870931C>ACA401286765CEP295NL,TIMP2c.76G>T (p.Asp26Tyr)
c.307G>T (p.Asp103Tyr)
17g.78870931C=CA2277198165CEP295NL,TIMP2c.76G= (p.Asp26=)
c.307G= (p.Asp103=)
17g.78870931C>GCA401286770CEP295NL,TIMP2c.76G>C (p.Asp26His)
c.307G>C (p.Asp103His)
 dbSNP
17g.78870931C>TCA401286768CEP295NL,TIMP2c.76G>A (p.Asp26Asn)
c.307G>A (p.Asp103Asn)
 gnomAD v4
17g.78870932C>ACA502131132CEP295NL,TIMP2c.75G>T (p.Leu25=)
c.306G>T (p.Leu102=)
17g.78870932C>GCA502131134CEP295NL,TIMP2c.75G>C (p.Leu25=)
c.306G>C (p.Leu102=)
17g.78870932C>TCA502131137CEP295NL,TIMP2c.75G>A (p.Leu25=)
c.306G>A (p.Leu102=)
17g.78870933A>CCA401286773CEP295NL,TIMP2c.74T>G (p.Leu25Arg)
c.305T>G (p.Leu102Arg)
17g.78870933A>GCA401286775CEP295NL,TIMP2c.74T>C (p.Leu25Pro)
c.305T>C (p.Leu102Pro)
17g.78870933A>TCA401286777CEP295NL,TIMP2c.74T>A (p.Leu25Gln)
c.305T>A (p.Leu102Gln)
17g.78870934G>ACA502131143CEP295NL,TIMP2c.73C>T (p.Leu25=)
c.304C>T (p.Leu102=)
17g.78870934G>CCA401286778CEP295NL,TIMP2c.73C>G (p.Leu25Val)
c.304C>G (p.Leu102Val)
17g.78870934G>TCA401286779CEP295NL,TIMP2c.73C>A (p.Leu25Met)
c.304C>A (p.Leu102Met)
17g.78870935C>ACA502131150CEP295NL,TIMP2c.72G>T (p.Ser24=)
c.303G>T (p.Ser101=)
 gnomAD v4
17g.78870935C=CA2277198166CEP295NL,TIMP2c.72G= (p.Ser24=)
c.303G= (p.Ser101=)
17g.78870935C>GCA502131148CEP295NL,TIMP2c.72G>C (p.Ser24=)
c.303G>C (p.Ser101=)
 gnomAD v4
17g.78870935C>TCA8807703CEP295NL,TIMP2c.72G>A (p.Ser24=)
c.303G>A (p.Ser101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870936G>ACA294435254CEP295NL,TIMP2c.71C>T (p.Ser24Leu)
c.302C>T (p.Ser101Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.78870936G>CCA401286782CEP295NL,TIMP2c.71C>G (p.Ser24Trp)
c.302C>G (p.Ser101Trp)
17g.78870936G=CA2277198167CEP295NL,TIMP2c.71C= (p.Ser24=)
c.302C= (p.Ser101=)
17g.78870936G>TCA401286781CEP295NL,TIMP2c.71C>A (p.Ser24Ter)
c.302C>A (p.Ser101Ter)
17g.78870937A>CCA401286785CEP295NL,TIMP2c.70T>G (p.Ser24Ala)
c.301T>G (p.Ser101Ala)
 gnomAD v4
17g.78870937A>GCA401286787CEP295NL,TIMP2c.70T>C (p.Ser24Pro)
c.301T>C (p.Ser101Pro)
17g.78870937A>TCA401286789CEP295NL,TIMP2c.70T>A (p.Ser24Thr)
c.301T>A (p.Ser101Thr)
17g.78870938G>ACA502131159CEP295NL,TIMP2c.69C>T (p.Val23=)
c.300C>T (p.Val100=)
 dbSNP gnomAD v4
17g.78870938G>CCA502131161CEP295NL,TIMP2c.69C>G (p.Val23=)
c.300C>G (p.Val100=)
17g.78870938G=CA2277198168CEP295NL,TIMP2c.69C= (p.Val23=)
c.300C= (p.Val100=)
17g.78870938G>TCA502131164CEP295NL,TIMP2c.69C>A (p.Val23=)
c.300C>A (p.Val100=)
 dbSNP gnomAD v3 gnomAD v4
17g.78870939A>CCA401286792CEP295NL,TIMP2c.68T>G (p.Val23Gly)
c.299T>G (p.Val100Gly)
17g.78870939A>GCA401286794CEP295NL,TIMP2c.68T>C (p.Val23Ala)
c.299T>C (p.Val100Ala)
17g.78870939A>TCA401286799CEP295NL,TIMP2c.68T>A (p.Val23Asp)
c.299T>A (p.Val100Asp)
17g.78870940C>ACA8807704CEP295NL,TIMP2c.67G>T (p.Val23Phe)
c.298G>T (p.Val100Phe)
 dbSNP ExAC gnomAD v4
17g.78870940C=CA2277198169CEP295NL,TIMP2c.67G= (p.Val23=)
c.298G= (p.Val100=)
17g.78870940C>GCA401286805CEP295NL,TIMP2c.67G>C (p.Val23Leu)
c.298G>C (p.Val100Leu)
17g.78870940C>TCA8807705CEP295NL,TIMP2c.67G>A (p.Val23Ile)
c.298G>A (p.Val100Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870941C>ACA8807706CEP295NL,TIMP2c.66G>T (p.Gly22=)
c.297G>T (p.Gly99=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870941C=CA2277198170CEP295NL,TIMP2c.66G= (p.Gly22=)
c.297G= (p.Gly99=)
17g.78870941C>GCA502131175CEP295NL,TIMP2c.66G>C (p.Gly22=)
c.297G>C (p.Gly99=)
17g.78870941C>TCA502131176CEP295NL,TIMP2c.66G>A (p.Gly22=)
c.297G>A (p.Gly99=)
 gnomAD v4
17g.78870942C>ACA401286809CEP295NL,TIMP2c.65G>T (p.Gly22Val)
c.296G>T (p.Gly99Val)
17g.78870942C>GCA401286811CEP295NL,TIMP2c.65G>C (p.Gly22Ala)
c.296G>C (p.Gly99Ala)
17g.78870942C>TCA401286813CEP295NL,TIMP2c.65G>A (p.Gly22Glu)
c.296G>A (p.Gly99Glu)
17g.78870943C>ACA401286815CEP295NL,TIMP2c.64G>T (p.Gly22Trp)
c.295G>T (p.Gly99Trp)
17g.78870943C>GCA401286818CEP295NL,TIMP2c.64G>C (p.Gly22Arg)
c.295G>C (p.Gly99Arg)
17g.78870943C>TCA401286819CEP295NL,TIMP2c.64G>A (p.Gly22Arg)
c.295G>A (p.Gly99Arg)
17g.78870944A>CCA401286822CEP295NL,TIMP2c.63T>G (p.Cys21Trp)
c.294T>G (p.Cys98Trp)
17g.78870944A>GCA502131186CEP295NL,TIMP2c.63T>C (p.Cys21=)
c.294T>C (p.Cys98=)
 dbSNP
17g.78870944A>TCA401286824CEP295NL,TIMP2c.63T>A (p.Cys21Ter)
c.294T>A (p.Cys98Ter)
17g.78870945C>ACA401286827CEP295NL,TIMP2c.62G>T (p.Cys21Phe)
c.293G>T (p.Cys98Phe)
17g.78870945C>GCA401286829CEP295NL,TIMP2c.62G>C (p.Cys21Ser)
c.293G>C (p.Cys98Ser)
17g.78870945C>TCA401286831CEP295NL,TIMP2c.62G>A (p.Cys21Tyr)
c.293G>A (p.Cys98Tyr)
 gnomAD v4
17g.78870946A>CCA401286839CEP295NL,TIMP2c.61T>G (p.Cys21Gly)
c.292T>G (p.Cys98Gly)
17g.78870946A>GCA401286834CEP295NL,TIMP2c.61T>C (p.Cys21Arg)
c.292T>C (p.Cys98Arg)
17g.78870946A>TCA401286836CEP295NL,TIMP2c.61T>A (p.Cys21Ser)
c.292T>A (p.Cys98Ser)
17g.78870947C>ACA502131197CEP295NL,TIMP2c.60G>T (p.Val20=)
c.291G>T (p.Val97=)
17g.78870947C=CA2277198171CEP295NL,TIMP2c.60G= (p.Val20=)
c.291G= (p.Val97=)
17g.78870947C>GCA502131199CEP295NL,TIMP2c.60G>C (p.Val20=)
c.291G>C (p.Val97=)
17g.78870947C>TCA8807707CEP295NL,TIMP2c.60G>A (p.Val20=)
c.291G>A (p.Val97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870948A>CCA401286842CEP295NL,TIMP2c.59T>G (p.Val20Gly)
c.290T>G (p.Val97Gly)
17g.78870948A>GCA401286844CEP295NL,TIMP2c.59T>C (p.Val20Ala)
c.290T>C (p.Val97Ala)
17g.78870948A>TCA401286847CEP295NL,TIMP2c.59T>A (p.Val20Glu)
c.290T>A (p.Val97Glu)
17g.78870949C>ACA401286850CEP295NL,TIMP2c.58G>T (p.Val20Leu)
c.289G>T (p.Val97Leu)
17g.78870949C=CA2277198172CEP295NL,TIMP2c.58G= (p.Val20=)
c.289G= (p.Val97=)
17g.78870949C>GCA401286852CEP295NL,TIMP2c.58G>C (p.Val20Leu)
c.289G>C (p.Val97Leu)
17g.78870949C>TCA8807708CEP295NL,TIMP2c.58G>A (p.Val20Met)
c.289G>A (p.Val97Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870950T>ACA502131210CEP295NL,TIMP2c.57A>T (p.Ala19=)
c.288A>T (p.Ala96=)
17g.78870950T>CCA502131212CEP295NL,TIMP2c.57A>G (p.Ala19=)
c.288A>G (p.Ala96=)
17g.78870950T>GCA502131214CEP295NL,TIMP2c.57A>C (p.Ala19=)
c.288A>C (p.Ala96=)
17g.78870951G>ACA401286857CEP295NL,TIMP2c.56C>T (p.Ala19Val)
c.287C>T (p.Ala96Val)
17g.78870951G>CCA401286861CEP295NL,TIMP2c.56C>G (p.Ala19Gly)
c.287C>G (p.Ala96Gly)
17g.78870951G>TCA401286859CEP295NL,TIMP2c.56C>A (p.Ala19Glu)
c.287C>A (p.Ala96Glu)
 COSMIC
17g.78870952C>ACA401286865CEP295NL,TIMP2c.55G>T (p.Ala19Ser)
c.286G>T (p.Ala96Ser)
17g.78870952C>GCA401286867CEP295NL,TIMP2c.55G>C (p.Ala19Pro)
c.286G>C (p.Ala96Pro)
17g.78870952C>TCA401286870CEP295NL,TIMP2c.55G>A (p.Ala19Thr)
c.286G>A (p.Ala96Thr)
17g.78870953C>ACA502131224CEP295NL,TIMP2c.54G>T (p.Ser18=)
c.285G>T (p.Ser95=)
17g.78870953C=CA2277198174CEP295NL,TIMP2c.54G= (p.Ser18=)
c.285G= (p.Ser95=)
17g.78870953C>GCA502131226CEP295NL,TIMP2c.54G>C (p.Ser18=)
c.285G>C (p.Ser95=)
17g.78870953C>TCA8807709CEP295NL,TIMP2c.54G>A (p.Ser18=)
c.285G>A (p.Ser95=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870953_78870956delinsCGAGCA2277198173CEP295NL,TIMP2c.51_54delinsCTCG (p.Ser17=)
c.282_285delinsCTCG (p.Ser94=)
17g.78870954G>ACA401286874CEP295NL,TIMP2c.53C>T (p.Ser18Leu)
c.284C>T (p.Ser95Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.78870954G>CCA401286879CEP295NL,TIMP2c.53C>G (p.Ser18Trp)
c.284C>G (p.Ser95Trp)
17g.78870954G=CA2277198176CEP295NL,TIMP2c.53C= (p.Ser18=)
c.284C= (p.Ser95=)
17g.78870954G>TCA401286877CEP295NL,TIMP2c.53C>A (p.Ser18Ter)
c.284C>A (p.Ser95Ter)
17g.78870958_78870960delCA2277198175CEP295NL,TIMP2c.51_53del (p.Ser18del)
c.282_284del (p.Ser95del)
 dbSNP
17g.78870955A>CCA401286882CEP295NL,TIMP2c.52T>G (p.Ser18Ala)
c.283T>G (p.Ser95Ala)
17g.78870955A>GCA401286885CEP295NL,TIMP2c.52T>C (p.Ser18Pro)
c.283T>C (p.Ser95Pro)
17g.78870955A>TCA401286895CEP295NL,TIMP2c.52T>A (p.Ser18Thr)
c.283T>A (p.Ser95Thr)
17g.78870956G>ACA502131237CEP295NL,TIMP2c.51C>T (p.Ser17=)
c.282C>T (p.Ser94=)
 gnomAD v4
17g.78870956G>CCA8807710CEP295NL,TIMP2c.51C>G (p.Ser17=)
c.282C>G (p.Ser94=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870956G=CA2277198177CEP295NL,TIMP2c.51C= (p.Ser17=)
c.282C= (p.Ser94=)
17g.78870956G>TCA502131235CEP295NL,TIMP2c.51C>A (p.Ser17=)
c.282C>A (p.Ser94=)
17g.78870957G>ACA294435300CEP295NL,TIMP2c.50C>T (p.Ser17Phe)
c.281C>T (p.Ser94Phe)
 dbSNP
17g.78870957G>CCA401286900CEP295NL,TIMP2c.50C>G (p.Ser17Cys)
c.281C>G (p.Ser94Cys)
17g.78870957G=CA2277198178CEP295NL,TIMP2c.50C= (p.Ser17=)
c.281C= (p.Ser94=)
17g.78870957G>TCA401286901CEP295NL,TIMP2c.50C>A (p.Ser17Tyr)
c.281C>A (p.Ser94Tyr)
17g.78870958A=CA2277198179CEP295NL,TIMP2c.49T= (p.Ser17=)
c.280T= (p.Ser94=)
17g.78870958A>CCA8807711CEP295NL,TIMP2c.49T>G (p.Ser17Ala)
c.280T>G (p.Ser94Ala)
 dbSNP ExAC gnomAD v2
17g.78870958A>GCA401286904CEP295NL,TIMP2c.49T>C (p.Ser17Pro)
c.280T>C (p.Ser94Pro)
17g.78870958A>TCA401286907CEP295NL,TIMP2c.49T>A (p.Ser17Thr)
c.280T>A (p.Ser94Thr)
17g.78870959G>ACA8807712CEP295NL,TIMP2c.48C>T (p.Pro16=)
c.279C>T (p.Pro93=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870959G>CCA502131250CEP295NL,TIMP2c.48C>G (p.Pro16=)
c.279C>G (p.Pro93=)
 dbSNP gnomAD v2 gnomAD v4
17g.78870959G=CA2277198180CEP295NL,TIMP2c.48C= (p.Pro16=)
c.279C= (p.Pro93=)
17g.78870959G>TCA502131252CEP295NL,TIMP2c.48C>A (p.Pro16=)
c.279C>A (p.Pro93=)
 gnomAD v4
17g.78870963dupCA2810547049CEP295NL,TIMP2c.48dup (p.Ser17LeufsTer?)
c.48dup (p.Ser17LeufsTer23)
c.279dup (p.Ser94LeufsTer?)
17g.78870963delCA502131254CEP295NL,TIMP2c.48del (p.Ser17ProfsTer?)
c.279del (p.Ser94ProfsTer?)
 COSMIC
17g.78870960G>ACA401286911CEP295NL,TIMP2c.47C>T (p.Pro16Leu)
c.278C>T (p.Pro93Leu)
 dbSNP gnomAD v4
17g.78870960G>CCA8807713CEP295NL,TIMP2c.47C>G (p.Pro16Arg)
c.278C>G (p.Pro93Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870960G=CA2277198181CEP295NL,TIMP2c.47C= (p.Pro16=)
c.278C= (p.Pro93=)
17g.78870960G>TCA401286914CEP295NL,TIMP2c.47C>A (p.Pro16His)
c.278C>A (p.Pro93His)
17g.78870961G>ACA401286918CEP295NL,TIMP2c.46C>T (p.Pro16Ser)
c.277C>T (p.Pro93Ser)
17g.78870961G>CCA401286920CEP295NL,TIMP2c.46C>G (p.Pro16Ala)
c.277C>G (p.Pro93Ala)
17g.78870961G>TCA401286919CEP295NL,TIMP2c.46C>A (p.Pro16Thr)
c.277C>A (p.Pro93Thr)
17g.78870962G>ACA502131263CEP295NL,TIMP2c.45C>T (p.Ala15=)
c.276C>T (p.Ala92=)
 gnomAD v4
17g.78870962G>CCA502131265CEP295NL,TIMP2c.45C>G (p.Ala15=)
c.276C>G (p.Ala92=)
17g.78870962G>TCA502131267CEP295NL,TIMP2c.45C>A (p.Ala15=)
c.276C>A (p.Ala92=)
17g.78870963G>ACA401286922CEP295NL,TIMP2c.44C>T (p.Ala15Val)
c.275C>T (p.Ala92Val)
 dbSNP COSMIC
17g.78870963G>CCA401286924CEP295NL,TIMP2c.44C>G (p.Ala15Gly)
c.275C>G (p.Ala92Gly)
17g.78870963G=CA2277198182CEP295NL,TIMP2c.44C= (p.Ala15=)
c.275C= (p.Ala92=)
17g.78870963G>TCA401286927CEP295NL,TIMP2c.44C>A (p.Ala15Asp)
c.275C>A (p.Ala92Asp)
17g.78870964C>ACA401286929CEP295NL,TIMP2c.43G>T (p.Ala15Ser)
c.274G>T (p.Ala92Ser)
17g.78870964C=CA2277198183CEP295NL,TIMP2c.43G= (p.Ala15=)
c.274G= (p.Ala92=)
17g.78870964C>GCA401286931CEP295NL,TIMP2c.43G>C (p.Ala15Pro)
c.274G>C (p.Ala92Pro)
 gnomAD v4
17g.78870964C>TCA401286934CEP295NL,TIMP2c.43G>A (p.Ala15Thr)
c.274G>A (p.Ala92Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.78870965C>ACA502131275CEP295NL,TIMP2c.42G>T (p.Thr14=)
c.273G>T (p.Thr91=)
17g.78870965C=CA2277198184CEP295NL,TIMP2c.42G= (p.Thr14=)
c.273G= (p.Thr91=)
17g.78870965C>GCA502131277CEP295NL,TIMP2c.42G>C (p.Thr14=)
c.273G>C (p.Thr91=)
17g.78870965C>TCA8807714CEP295NL,TIMP2c.42G>A (p.Thr14=)
c.273G>A (p.Thr91=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870966G>ACA401286938CEP295NL,TIMP2c.41C>T (p.Thr14Met)
c.272C>T (p.Thr91Met)
 gnomAD v4
17g.78870966G>CCA401286941CEP295NL,TIMP2c.41C>G (p.Thr14Arg)
c.272C>G (p.Thr91Arg)
17g.78870966G>TCA401286946CEP295NL,TIMP2c.41C>A (p.Thr14Lys)
c.272C>A (p.Thr91Lys)
17g.78870967T>ACA401286949CEP295NL,TIMP2c.40A>T (p.Thr14Ser)
c.271A>T (p.Thr91Ser)
17g.78870967T>CCA401286950CEP295NL,TIMP2c.40A>G (p.Thr14Ala)
c.271A>G (p.Thr91Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.78870967T>GCA401286952CEP295NL,TIMP2c.40A>C (p.Thr14Pro)
c.271A>C (p.Thr91Pro)
17g.78870967T=CA2277198185CEP295NL,TIMP2c.40A= (p.Thr14=)
c.271A= (p.Thr91=)
17g.78870968G>ACA502131286CEP295NL,TIMP2c.39C>T (p.Tyr13=)
c.270C>T (p.Tyr90=)
17g.78870968G>CCA401286955CEP295NL,TIMP2c.39C>G (p.Tyr13Ter)
c.270C>G (p.Tyr90Ter)
17g.78870968G>TCA401286957CEP295NL,TIMP2c.39C>A (p.Tyr13Ter)
c.270C>A (p.Tyr90Ter)
17g.78870969T>ACA8807715CEP295NL,TIMP2c.38A>T (p.Tyr13Phe)
c.269A>T (p.Tyr90Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870969T>CCA8807716CEP295NL,TIMP2c.38A>G (p.Tyr13Cys)
c.269A>G (p.Tyr90Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.78870969T>GCA401286964CEP295NL,TIMP2c.38A>C (p.Tyr13Ser)
c.269A>C (p.Tyr90Ser)
17g.78870969T=CA2277198186CEP295NL,TIMP2c.38A= (p.Tyr13=)
c.269A= (p.Tyr90=)
17g.78870970A=CA2277198187CEP295NL,TIMP2c.37T= (p.Tyr13=)
c.268T= (p.Tyr90=)
17g.78870970A>CCA401286966CEP295NL,TIMP2c.37T>G (p.Tyr13Asp)
c.268T>G (p.Tyr90Asp)
17g.78870970A>GCA8807717CEP295NL,TIMP2c.37T>C (p.Tyr13His)
c.268T>C (p.Tyr90His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.78870970A>TCA401286968CEP295NL,TIMP2c.37T>A (p.Tyr13Asn)
c.268T>A (p.Tyr90Asn)
17g.78870971G>ACA502131298CEP295NL,TIMP2c.36C>T (p.Ile12=)
c.267C>T (p.Ile89=)
17g.78870971G>CCA401286971CEP295NL,TIMP2c.36C>G (p.Ile12Met)
c.267C>G (p.Ile89Met)
17g.78870971G>TCA502131301CEP295NL,TIMP2c.36C>A (p.Ile12=)
c.267C>A (p.Ile89=)
17g.78870972A>CCA401286974CEP295NL,TIMP2c.35T>G (p.Ile12Ser)
c.266T>G (p.Ile89Ser)
17g.78870972A>GCA401286977CEP295NL,TIMP2c.35T>C (p.Ile12Thr)
c.266T>C (p.Ile89Thr)
17g.78870972A>TCA401286979CEP295NL,TIMP2c.35T>A (p.Ile12Asn)
c.266T>A (p.Ile89Asn)
17g.78870973_78870976delCA2510640693CEP295NL,TIMP2c.32_35del (p.Phe11SerfsTer?)
c.263_266del (p.Phe88SerfsTer?)
17g.78870973T>ACA401286986CEP295NL,TIMP2c.34A>T (p.Ile12Phe)
c.265A>T (p.Ile89Phe)
17g.78870973T>CCA401286984CEP295NL,TIMP2c.34A>G (p.Ile12Val)
c.265A>G (p.Ile89Val)
17g.78870973T>GCA401286983CEP295NL,TIMP2c.34A>C (p.Ile12Leu)
c.265A>C (p.Ile89Leu)
17g.78870974A>CCA401286989CEP295NL,TIMP2c.33T>G (p.Phe11Leu)
c.264T>G (p.Phe88Leu)
17g.78870974A>GCA502131316CEP295NL,TIMP2c.33T>C (p.Phe11=)
c.264T>C (p.Phe88=)
 gnomAD v4
17g.78870974A>TCA401286991CEP295NL,TIMP2c.33T>A (p.Phe11Leu)
c.264T>A (p.Phe88Leu)
17g.78870975A>CCA401286995CEP295NL,TIMP2c.32T>G (p.Phe11Cys)
c.263T>G (p.Phe88Cys)
17g.78870975A>GCA401286996CEP295NL,TIMP2c.32T>C (p.Phe11Ser)
c.263T>C (p.Phe88Ser)
17g.78870975A>TCA401286998CEP295NL,TIMP2c.32T>A (p.Phe11Tyr)
c.263T>A (p.Phe88Tyr)
17g.78870976A>CCA401287002CEP295NL,TIMP2c.31T>G (p.Phe11Val)
c.262T>G (p.Phe88Val)
17g.78870976A>GCA401287004CEP295NL,TIMP2c.31T>C (p.Phe11Leu)
c.262T>C (p.Phe88Leu)
17g.78870976A>TCA401287005CEP295NL,TIMP2c.31T>A (p.Phe11Ile)
c.262T>A (p.Phe88Ile)
17g.78870977C>ACA401287007CEP295NL,TIMP2c.30G>T (p.Glu10Asp)
c.261G>T (p.Glu87Asp)
17g.78870977C>GCA401287009CEP295NL,TIMP2c.30G>C (p.Glu10Asp)
c.261G>C (p.Glu87Asp)
17g.78870977C>TCA502131326CEP295NL,TIMP2c.30G>A (p.Glu10=)
c.261G>A (p.Glu87=)
 dbSNP gnomAD v4
17g.78870978T>ACA401287011CEP295NL,TIMP2c.29A>T (p.Glu10Val)
c.260A>T (p.Glu87Val)
17g.78870978T>CCA401287013CEP295NL,TIMP2c.29A>G (p.Glu10Gly)
c.260A>G (p.Glu87Gly)
17g.78870978T>GCA401287016CEP295NL,TIMP2c.29A>C (p.Glu10Ala)
c.260A>C (p.Glu87Ala)
17g.78870979C>ACA401287022CEP295NL,TIMP2c.28G>T (p.Glu10Ter)
c.259G>T (p.Glu87Ter)
17g.78870979C>GCA401287019CEP295NL,TIMP2c.28G>C (p.Glu10Gln)
c.259G>C (p.Glu87Gln)
17g.78870979C>TCA401287020CEP295NL,TIMP2c.28G>A (p.Glu10Lys)
c.259G>A (p.Glu87Lys)
17g.78870980T>ACA502131338CEP295NL,TIMP2c.27A>T (p.Ile9=)
c.258A>T (p.Ile86=)
17g.78870980T>CCA401287024CEP295NL,TIMP2c.27A>G (p.Ile9Met)
c.258A>G (p.Ile86Met)
17g.78870980T>GCA502131339CEP295NL,TIMP2c.27A>C (p.Ile9=)
c.258A>C (p.Ile86=)
 dbSNP
17g.78870981A=CA2277198188CEP295NL,TIMP2c.26T= (p.Ile9=)
c.257T= (p.Ile86=)
17g.78870981A>CCA401287027CEP295NL,TIMP2c.26T>G (p.Ile9Arg)
c.257T>G (p.Ile86Arg)
17g.78870981A>GCA401287029CEP295NL,TIMP2c.26T>C (p.Ile9Thr)
c.257T>C (p.Ile86Thr)
 dbSNP gnomAD v4
17g.78870981A>TCA401287032CEP295NL,TIMP2c.26T>A (p.Ile9Lys)
c.257T>A (p.Ile86Lys)
17g.78870982T>ACA401287036CEP295NL,TIMP2c.25A>T (p.Ile9Leu)
c.256A>T (p.Ile86Leu)
17g.78870982T>CCA401287038CEP295NL,TIMP2c.25A>G (p.Ile9Val)
c.256A>G (p.Ile86Val)
17g.78870982T>GCA401287040CEP295NL,TIMP2c.25A>C (p.Ile9Leu)
c.256A>C (p.Ile86Leu)
17g.78870983A>CCA401287043CEP295NL,TIMP2c.24T>G (p.Asp8Glu)
c.255T>G (p.Asp85Glu)
17g.78870983A>GCA502131350CEP295NL,TIMP2c.24T>C (p.Asp8=)
c.255T>C (p.Asp85=)
 dbSNP
17g.78870983A>TCA401287045CEP295NL,TIMP2c.24T>A (p.Asp8Glu)
c.255T>A (p.Asp85Glu)
17g.78870984T>ACA401287048CEP295NL,TIMP2c.23A>T (p.Asp8Val)
c.254A>T (p.Asp85Val)
 dbSNP gnomAD v4
17g.78870984T>CCA401287050CEP295NL,TIMP2c.23A>G (p.Asp8Gly)
c.254A>G (p.Asp85Gly)
17g.78870984T>GCA401287052CEP295NL,TIMP2c.23A>C (p.Asp8Ala)
c.254A>C (p.Asp85Ala)
17g.78870984T=CA2277198189CEP295NL,TIMP2c.23A= (p.Asp8=)
c.254A= (p.Asp85=)
17g.78870985C>ACA401287058CEP295NL,TIMP2c.22G>T (p.Asp8Tyr)
c.253G>T (p.Asp85Tyr)
17g.78870985C>GCA401287060CEP295NL,TIMP2c.22G>C (p.Asp8His)
c.253G>C (p.Asp85His)
17g.78870985C>TCA401287056CEP295NL,TIMP2c.22G>A (p.Asp8Asn)
c.253G>A (p.Asp85Asn)
 COSMIC
17g.78870985_78870988delinsCCTTCA2277198190CEP295NL,TIMP2c.19_22delinsAAGG (p.Lys7=)
c.250_253delinsAAGG (p.Lys84=)
17g.78870986C>ACA401287063CEP295NL,TIMP2c.21G>T (p.Lys7Asn)
c.252G>T (p.Lys84Asn)
17g.78870986C=CA2277198192CEP295NL,TIMP2c.21G= (p.Lys7=)
c.252G= (p.Lys84=)
17g.78870986C>GCA401287061CEP295NL,TIMP2c.21G>C (p.Lys7Asn)
c.252G>C (p.Lys84Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.78870986C>TCA502131360CEP295NL,TIMP2c.21G>A (p.Lys7=)
c.252G>A (p.Lys84=)
17g.78870988_78870990delCA2277198191CEP295NL,TIMP2c.19_21del (p.Lys7del)
c.250_252del (p.Lys84del)
 dbSNP
17g.78870987T>ACA401287071CEP295NL,TIMP2c.20A>T (p.Lys7Met)
c.251A>T (p.Lys84Met)
17g.78870987T>CCA401287066CEP295NL,TIMP2c.20A>G (p.Lys7Arg)
c.251A>G (p.Lys84Arg)
17g.78870987T>GCA401287068CEP295NL,TIMP2c.20A>C (p.Lys7Thr)
c.251A>C (p.Lys84Thr)
17g.78870988T>ACA401287074CEP295NL,TIMP2c.19A>T (p.Lys7Ter)
c.250A>T (p.Lys84Ter)
17g.78870988T>CCA401287076CEP295NL,TIMP2c.19A>G (p.Lys7Glu)
c.250A>G (p.Lys84Glu)
17g.78870988T>GCA401287078CEP295NL,TIMP2c.19A>C (p.Lys7Gln)
c.250A>C (p.Lys84Gln)
17g.78870989C>ACA401287081CEP295NL,TIMP2c.18G>T (p.Glu6Asp)
c.249G>T (p.Glu83Asp)
 COSMIC
17g.78870989C>GCA401287083CEP295NL,TIMP2c.18G>C (p.Glu6Asp)
c.249G>C (p.Glu83Asp)
 dbSNP
17g.78870989C>TCA502131370CEP295NL,TIMP2c.18G>A (p.Glu6=)
c.249G>A (p.Glu83=)
 dbSNP
17g.78870990T>ACA401287087CEP295NL,TIMP2c.17A>T (p.Glu6Val)
c.248A>T (p.Glu83Val)
17g.78870990T>CCA401287089CEP295NL,TIMP2c.17A>G (p.Glu6Gly)
c.248A>G (p.Glu83Gly)
 dbSNP
17g.78870990T>GCA401287091CEP295NL,TIMP2c.17A>C (p.Glu6Ala)
c.248A>C (p.Glu83Ala)
17g.78870990T=CA2277198193CEP295NL,TIMP2c.17A= (p.Glu6=)
c.248A= (p.Glu83=)

Number of alleles fetched