Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.78870914_78870917del | CA2640201697 | CEP295NL,TIMP2 | c.93_96del (p.Lys31AsnfsTer28) c.93_96del (p.Lys31AsnfsTer?) c.324_327del (p.Lys108AsnfsTer28) | gnomAD v4 |
17 | g.78870912T>A | CA401286653 | CEP295NL,TIMP2 | c.95A>T (p.Glu32Val) c.326A>T (p.Glu109Val) | |
17 | g.78870912T>C | CA401286643 | CEP295NL,TIMP2 | c.95A>G (p.Glu32Gly) c.326A>G (p.Glu109Gly) | |
17 | g.78870912T>G | CA401286645 | CEP295NL,TIMP2 | c.95A>C (p.Glu32Ala) c.326A>C (p.Glu109Ala) | |
17 | g.78870913C>A | CA401286656 | CEP295NL,TIMP2 | c.94G>T (p.Glu32Ter) c.325G>T (p.Glu109Ter) | |
17 | g.78870913C>G | CA401286659 | CEP295NL,TIMP2 | c.94G>C (p.Glu32Gln) c.325G>C (p.Glu109Gln) | |
17 | g.78870913C>T | CA401286661 | CEP295NL,TIMP2 | c.94G>A (p.Glu32Lys) c.325G>A (p.Glu109Lys) | |
17 | g.78870914dup | CA2842479646 | CEP295NL,TIMP2 | c.94dup (p.Glu32GlyfsTer20) c.94dup (p.Glu32GlyfsTer8) c.325dup (p.Glu109GlyfsTer20) c.94dup (p.Glu32GlyfsTer?) | |
17 | g.78870914C>A | CA401286666 | CEP295NL,TIMP2 | c.93G>T (p.Lys31Asn) c.324G>T (p.Lys108Asn) | |
17 | g.78870914C= | CA2277198161 | CEP295NL,TIMP2 | c.93G= (p.Lys31=) c.324G= (p.Lys108=) | |
17 | g.78870914C>G | CA401286668 | CEP295NL,TIMP2 | c.93G>C (p.Lys31Asn) c.324G>C (p.Lys108Asn) | |
17 | g.78870914C>T | CA502131064 | CEP295NL,TIMP2 | c.93G>A (p.Lys31=) c.324G>A (p.Lys108=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870917_78870919del | CA2640201698 | CEP295NL,TIMP2 | c.91_93del (p.Lys31del) c.322_324del (p.Lys108del) | gnomAD v4 |
17 | g.78870915T>A | CA401286676 | CEP295NL,TIMP2 | c.92A>T (p.Lys31Met) c.323A>T (p.Lys108Met) | |
17 | g.78870915T>C | CA401286679 | CEP295NL,TIMP2 | c.92A>G (p.Lys31Arg) c.323A>G (p.Lys108Arg) | |
17 | g.78870915T>G | CA401286682 | CEP295NL,TIMP2 | c.92A>C (p.Lys31Thr) c.323A>C (p.Lys108Thr) | |
17 | g.78870916T>A | CA401286687 | CEP295NL,TIMP2 | c.91A>T (p.Lys31Ter) c.322A>T (p.Lys108Ter) | |
17 | g.78870916T>C | CA401286689 | CEP295NL,TIMP2 | c.91A>G (p.Lys31Glu) c.322A>G (p.Lys108Glu) | |
17 | g.78870916T>G | CA401286693 | CEP295NL,TIMP2 | c.91A>C (p.Lys31Gln) c.322A>C (p.Lys108Gln) | |
17 | g.78870917C>A | CA401286696 | CEP295NL,TIMP2 | c.90G>T (p.Lys30Asn) c.321G>T (p.Lys107Asn) | |
17 | g.78870917C>G | CA401286699 | CEP295NL,TIMP2 | c.90G>C (p.Lys30Asn) c.321G>C (p.Lys107Asn) | |
17 | g.78870917C>T | CA502131074 | CEP295NL,TIMP2 | c.90G>A (p.Lys30=) c.321G>A (p.Lys107=) | |
17 | g.78870918T>A | CA401286704 | CEP295NL,TIMP2 | c.89A>T (p.Lys30Met) c.320A>T (p.Lys107Met) | |
17 | g.78870918T>C | CA401286708 | CEP295NL,TIMP2 | c.89A>G (p.Lys30Arg) c.320A>G (p.Lys107Arg) | |
17 | g.78870918T>G | CA401286705 | CEP295NL,TIMP2 | c.89A>C (p.Lys30Thr) c.320A>C (p.Lys107Thr) | |
17 | g.78870919T>A | CA401286710 | CEP295NL,TIMP2 | c.88A>T (p.Lys30Ter) c.319A>T (p.Lys107Ter) | |
17 | g.78870919T>C | CA401286712 | CEP295NL,TIMP2 | c.88A>G (p.Lys30Glu) c.319A>G (p.Lys107Glu) | |
17 | g.78870919T>G | CA401286714 | CEP295NL,TIMP2 | c.88A>C (p.Lys30Gln) c.319A>C (p.Lys107Gln) | |
17 | g.78870920_78870923del | CA645599422 | CEP295NL,TIMP2 | c.85_88del (p.Gly29ArgfsTer30) c.85_88del (p.Gly29ArgfsTer?) c.316_319del (p.Gly106ArgfsTer30) | COSMIC |
17 | g.78870920T>A | CA502131084 | CEP295NL,TIMP2 | c.87A>T (p.Gly29=) c.318A>T (p.Gly106=) | |
17 | g.78870920T>C | CA502131087 | CEP295NL,TIMP2 | c.87A>G (p.Gly29=) c.318A>G (p.Gly106=) | |
17 | g.78870920T>G | CA502131086 | CEP295NL,TIMP2 | c.87A>C (p.Gly29=) c.318A>C (p.Gly106=) | |
17 | g.78870921C>A | CA401286717 | CEP295NL,TIMP2 | c.86G>T (p.Gly29Val) c.317G>T (p.Gly106Val) | |
17 | g.78870921C>G | CA401286719 | CEP295NL,TIMP2 | c.86G>C (p.Gly29Ala) c.317G>C (p.Gly106Ala) | |
17 | g.78870921C>T | CA401286722 | CEP295NL,TIMP2 | c.86G>A (p.Gly29Glu) c.317G>A (p.Gly106Glu) | |
17 | g.78870922C>A | CA401286725 | CEP295NL,TIMP2 | c.85G>T (p.Gly29Ter) c.316G>T (p.Gly106Ter) | |
17 | g.78870922C>G | CA401286726 | CEP295NL,TIMP2 | c.85G>C (p.Gly29Arg) c.316G>C (p.Gly106Arg) | |
17 | g.78870922C>T | CA401286728 | CEP295NL,TIMP2 | c.85G>A (p.Gly29Arg) c.316G>A (p.Gly106Arg) | |
17 | g.78870923T>A | CA502131096 | CEP295NL,TIMP2 | c.84A>T (p.Gly28=) c.315A>T (p.Gly105=) | gnomAD v4 |
17 | g.78870923T>C | CA502131098 | CEP295NL,TIMP2 | c.84A>G (p.Gly28=) c.315A>G (p.Gly105=) | |
17 | g.78870923T>G | CA502131099 | CEP295NL,TIMP2 | c.84A>C (p.Gly28=) c.315A>C (p.Gly105=) | |
17 | g.78870924C>A | CA401286730 | CEP295NL,TIMP2 | c.83G>T (p.Gly28Val) c.314G>T (p.Gly105Val) | |
17 | g.78870924C>G | CA401286731 | CEP295NL,TIMP2 | c.83G>C (p.Gly28Ala) c.314G>C (p.Gly105Ala) | gnomAD v4 |
17 | g.78870924C>T | CA401286732 | CEP295NL,TIMP2 | c.83G>A (p.Gly28Glu) c.314G>A (p.Gly105Glu) | |
17 | g.78870925C>A | CA401286742 | CEP295NL,TIMP2 | c.82G>T (p.Gly28Ter) c.313G>T (p.Gly105Ter) | |
17 | g.78870925C>G | CA401286735 | CEP295NL,TIMP2 | c.82G>C (p.Gly28Arg) c.313G>C (p.Gly105Arg) | |
17 | g.78870925C>T | CA401286738 | CEP295NL,TIMP2 | c.82G>A (p.Gly28Arg) c.313G>A (p.Gly105Arg) | |
17 | g.78870926A>C | CA502131109 | CEP295NL,TIMP2 | c.81T>G (p.Val27=) c.312T>G (p.Val104=) | |
17 | g.78870926A>G | CA502131111 | CEP295NL,TIMP2 | c.81T>C (p.Val27=) c.312T>C (p.Val104=) | |
17 | g.78870926A>T | CA502131113 | CEP295NL,TIMP2 | c.81T>A (p.Val27=) c.312T>A (p.Val104=) | |
17 | g.78870927A= | CA2277198162 | CEP295NL,TIMP2 | c.80T= (p.Val27=) c.311T= (p.Val104=) | |
17 | g.78870927A>C | CA294435230 | CEP295NL,TIMP2 | c.80T>G (p.Val27Gly) c.311T>G (p.Val104Gly) | dbSNP |
17 | g.78870927A>G | CA8807702 | CEP295NL,TIMP2 | c.80T>C (p.Val27Ala) c.311T>C (p.Val104Ala) | dbSNP ExAC |
17 | g.78870927A>T | CA401286748 | CEP295NL,TIMP2 | c.80T>A (p.Val27Asp) c.311T>A (p.Val104Asp) | gnomAD v4 |
17 | g.78870928C>A | CA401286750 | CEP295NL,TIMP2 | c.79G>T (p.Val27Phe) c.310G>T (p.Val104Phe) | gnomAD v4 |
17 | g.78870928C= | CA2277198163 | CEP295NL,TIMP2 | c.79G= (p.Val27=) c.310G= (p.Val104=) | |
17 | g.78870928C>G | CA401286752 | CEP295NL,TIMP2 | c.79G>C (p.Val27Leu) c.310G>C (p.Val104Leu) | |
17 | g.78870928C>T | CA294435251 | CEP295NL,TIMP2 | c.79G>A (p.Val27Ile) c.310G>A (p.Val104Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.78870929G>A | CA502131122 | CEP295NL,TIMP2 | c.78C>T (p.Asp26=) c.309C>T (p.Asp103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870929G>C | CA401286754 | CEP295NL,TIMP2 | c.78C>G (p.Asp26Glu) c.309C>G (p.Asp103Glu) | |
17 | g.78870929G= | CA2277198164 | CEP295NL,TIMP2 | c.78C= (p.Asp26=) c.309C= (p.Asp103=) | |
17 | g.78870929G>T | CA401286756 | CEP295NL,TIMP2 | c.78C>A (p.Asp26Glu) c.309C>A (p.Asp103Glu) | dbSNP gnomAD v4 |
17 | g.78870930T>A | CA401286759 | CEP295NL,TIMP2 | c.77A>T (p.Asp26Val) c.308A>T (p.Asp103Val) | |
17 | g.78870930T>C | CA401286760 | CEP295NL,TIMP2 | c.77A>G (p.Asp26Gly) c.308A>G (p.Asp103Gly) | |
17 | g.78870930T>G | CA401286762 | CEP295NL,TIMP2 | c.77A>C (p.Asp26Ala) c.308A>C (p.Asp103Ala) | gnomAD v4 |
17 | g.78870931C>A | CA401286765 | CEP295NL,TIMP2 | c.76G>T (p.Asp26Tyr) c.307G>T (p.Asp103Tyr) | |
17 | g.78870931C= | CA2277198165 | CEP295NL,TIMP2 | c.76G= (p.Asp26=) c.307G= (p.Asp103=) | |
17 | g.78870931C>G | CA401286770 | CEP295NL,TIMP2 | c.76G>C (p.Asp26His) c.307G>C (p.Asp103His) | dbSNP |
17 | g.78870931C>T | CA401286768 | CEP295NL,TIMP2 | c.76G>A (p.Asp26Asn) c.307G>A (p.Asp103Asn) | gnomAD v4 |
17 | g.78870932C>A | CA502131132 | CEP295NL,TIMP2 | c.75G>T (p.Leu25=) c.306G>T (p.Leu102=) | |
17 | g.78870932C>G | CA502131134 | CEP295NL,TIMP2 | c.75G>C (p.Leu25=) c.306G>C (p.Leu102=) | |
17 | g.78870932C>T | CA502131137 | CEP295NL,TIMP2 | c.75G>A (p.Leu25=) c.306G>A (p.Leu102=) | |
17 | g.78870933A>C | CA401286773 | CEP295NL,TIMP2 | c.74T>G (p.Leu25Arg) c.305T>G (p.Leu102Arg) | |
17 | g.78870933A>G | CA401286775 | CEP295NL,TIMP2 | c.74T>C (p.Leu25Pro) c.305T>C (p.Leu102Pro) | |
17 | g.78870933A>T | CA401286777 | CEP295NL,TIMP2 | c.74T>A (p.Leu25Gln) c.305T>A (p.Leu102Gln) | |
17 | g.78870934G>A | CA502131143 | CEP295NL,TIMP2 | c.73C>T (p.Leu25=) c.304C>T (p.Leu102=) | |
17 | g.78870934G>C | CA401286778 | CEP295NL,TIMP2 | c.73C>G (p.Leu25Val) c.304C>G (p.Leu102Val) | |
17 | g.78870934G>T | CA401286779 | CEP295NL,TIMP2 | c.73C>A (p.Leu25Met) c.304C>A (p.Leu102Met) | |
17 | g.78870935C>A | CA502131150 | CEP295NL,TIMP2 | c.72G>T (p.Ser24=) c.303G>T (p.Ser101=) | gnomAD v4 |
17 | g.78870935C= | CA2277198166 | CEP295NL,TIMP2 | c.72G= (p.Ser24=) c.303G= (p.Ser101=) | |
17 | g.78870935C>G | CA502131148 | CEP295NL,TIMP2 | c.72G>C (p.Ser24=) c.303G>C (p.Ser101=) | gnomAD v4 |
17 | g.78870935C>T | CA8807703 | CEP295NL,TIMP2 | c.72G>A (p.Ser24=) c.303G>A (p.Ser101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870936G>A | CA294435254 | CEP295NL,TIMP2 | c.71C>T (p.Ser24Leu) c.302C>T (p.Ser101Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870936G>C | CA401286782 | CEP295NL,TIMP2 | c.71C>G (p.Ser24Trp) c.302C>G (p.Ser101Trp) | |
17 | g.78870936G= | CA2277198167 | CEP295NL,TIMP2 | c.71C= (p.Ser24=) c.302C= (p.Ser101=) | |
17 | g.78870936G>T | CA401286781 | CEP295NL,TIMP2 | c.71C>A (p.Ser24Ter) c.302C>A (p.Ser101Ter) | |
17 | g.78870937A>C | CA401286785 | CEP295NL,TIMP2 | c.70T>G (p.Ser24Ala) c.301T>G (p.Ser101Ala) | gnomAD v4 |
17 | g.78870937A>G | CA401286787 | CEP295NL,TIMP2 | c.70T>C (p.Ser24Pro) c.301T>C (p.Ser101Pro) | |
17 | g.78870937A>T | CA401286789 | CEP295NL,TIMP2 | c.70T>A (p.Ser24Thr) c.301T>A (p.Ser101Thr) | |
17 | g.78870938G>A | CA502131159 | CEP295NL,TIMP2 | c.69C>T (p.Val23=) c.300C>T (p.Val100=) | dbSNP gnomAD v4 |
17 | g.78870938G>C | CA502131161 | CEP295NL,TIMP2 | c.69C>G (p.Val23=) c.300C>G (p.Val100=) | |
17 | g.78870938G= | CA2277198168 | CEP295NL,TIMP2 | c.69C= (p.Val23=) c.300C= (p.Val100=) | |
17 | g.78870938G>T | CA502131164 | CEP295NL,TIMP2 | c.69C>A (p.Val23=) c.300C>A (p.Val100=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.78870939A>C | CA401286792 | CEP295NL,TIMP2 | c.68T>G (p.Val23Gly) c.299T>G (p.Val100Gly) | |
17 | g.78870939A>G | CA401286794 | CEP295NL,TIMP2 | c.68T>C (p.Val23Ala) c.299T>C (p.Val100Ala) | |
17 | g.78870939A>T | CA401286799 | CEP295NL,TIMP2 | c.68T>A (p.Val23Asp) c.299T>A (p.Val100Asp) | |
17 | g.78870940C>A | CA8807704 | CEP295NL,TIMP2 | c.67G>T (p.Val23Phe) c.298G>T (p.Val100Phe) | dbSNP ExAC gnomAD v4 |
17 | g.78870940C= | CA2277198169 | CEP295NL,TIMP2 | c.67G= (p.Val23=) c.298G= (p.Val100=) | |
17 | g.78870940C>G | CA401286805 | CEP295NL,TIMP2 | c.67G>C (p.Val23Leu) c.298G>C (p.Val100Leu) | |
17 | g.78870940C>T | CA8807705 | CEP295NL,TIMP2 | c.67G>A (p.Val23Ile) c.298G>A (p.Val100Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870941C>A | CA8807706 | CEP295NL,TIMP2 | c.66G>T (p.Gly22=) c.297G>T (p.Gly99=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870941C= | CA2277198170 | CEP295NL,TIMP2 | c.66G= (p.Gly22=) c.297G= (p.Gly99=) | |
17 | g.78870941C>G | CA502131175 | CEP295NL,TIMP2 | c.66G>C (p.Gly22=) c.297G>C (p.Gly99=) | |
17 | g.78870941C>T | CA502131176 | CEP295NL,TIMP2 | c.66G>A (p.Gly22=) c.297G>A (p.Gly99=) | gnomAD v4 |
17 | g.78870942C>A | CA401286809 | CEP295NL,TIMP2 | c.65G>T (p.Gly22Val) c.296G>T (p.Gly99Val) | |
17 | g.78870942C>G | CA401286811 | CEP295NL,TIMP2 | c.65G>C (p.Gly22Ala) c.296G>C (p.Gly99Ala) | |
17 | g.78870942C>T | CA401286813 | CEP295NL,TIMP2 | c.65G>A (p.Gly22Glu) c.296G>A (p.Gly99Glu) | |
17 | g.78870943C>A | CA401286815 | CEP295NL,TIMP2 | c.64G>T (p.Gly22Trp) c.295G>T (p.Gly99Trp) | |
17 | g.78870943C>G | CA401286818 | CEP295NL,TIMP2 | c.64G>C (p.Gly22Arg) c.295G>C (p.Gly99Arg) | |
17 | g.78870943C>T | CA401286819 | CEP295NL,TIMP2 | c.64G>A (p.Gly22Arg) c.295G>A (p.Gly99Arg) | |
17 | g.78870944A>C | CA401286822 | CEP295NL,TIMP2 | c.63T>G (p.Cys21Trp) c.294T>G (p.Cys98Trp) | |
17 | g.78870944A>G | CA502131186 | CEP295NL,TIMP2 | c.63T>C (p.Cys21=) c.294T>C (p.Cys98=) | dbSNP |
17 | g.78870944A>T | CA401286824 | CEP295NL,TIMP2 | c.63T>A (p.Cys21Ter) c.294T>A (p.Cys98Ter) | |
17 | g.78870945C>A | CA401286827 | CEP295NL,TIMP2 | c.62G>T (p.Cys21Phe) c.293G>T (p.Cys98Phe) | |
17 | g.78870945C>G | CA401286829 | CEP295NL,TIMP2 | c.62G>C (p.Cys21Ser) c.293G>C (p.Cys98Ser) | |
17 | g.78870945C>T | CA401286831 | CEP295NL,TIMP2 | c.62G>A (p.Cys21Tyr) c.293G>A (p.Cys98Tyr) | gnomAD v4 |
17 | g.78870946A>C | CA401286839 | CEP295NL,TIMP2 | c.61T>G (p.Cys21Gly) c.292T>G (p.Cys98Gly) | |
17 | g.78870946A>G | CA401286834 | CEP295NL,TIMP2 | c.61T>C (p.Cys21Arg) c.292T>C (p.Cys98Arg) | |
17 | g.78870946A>T | CA401286836 | CEP295NL,TIMP2 | c.61T>A (p.Cys21Ser) c.292T>A (p.Cys98Ser) | |
17 | g.78870947C>A | CA502131197 | CEP295NL,TIMP2 | c.60G>T (p.Val20=) c.291G>T (p.Val97=) | |
17 | g.78870947C= | CA2277198171 | CEP295NL,TIMP2 | c.60G= (p.Val20=) c.291G= (p.Val97=) | |
17 | g.78870947C>G | CA502131199 | CEP295NL,TIMP2 | c.60G>C (p.Val20=) c.291G>C (p.Val97=) | |
17 | g.78870947C>T | CA8807707 | CEP295NL,TIMP2 | c.60G>A (p.Val20=) c.291G>A (p.Val97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870948A>C | CA401286842 | CEP295NL,TIMP2 | c.59T>G (p.Val20Gly) c.290T>G (p.Val97Gly) | |
17 | g.78870948A>G | CA401286844 | CEP295NL,TIMP2 | c.59T>C (p.Val20Ala) c.290T>C (p.Val97Ala) | |
17 | g.78870948A>T | CA401286847 | CEP295NL,TIMP2 | c.59T>A (p.Val20Glu) c.290T>A (p.Val97Glu) | |
17 | g.78870949C>A | CA401286850 | CEP295NL,TIMP2 | c.58G>T (p.Val20Leu) c.289G>T (p.Val97Leu) | |
17 | g.78870949C= | CA2277198172 | CEP295NL,TIMP2 | c.58G= (p.Val20=) c.289G= (p.Val97=) | |
17 | g.78870949C>G | CA401286852 | CEP295NL,TIMP2 | c.58G>C (p.Val20Leu) c.289G>C (p.Val97Leu) | |
17 | g.78870949C>T | CA8807708 | CEP295NL,TIMP2 | c.58G>A (p.Val20Met) c.289G>A (p.Val97Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870950T>A | CA502131210 | CEP295NL,TIMP2 | c.57A>T (p.Ala19=) c.288A>T (p.Ala96=) | |
17 | g.78870950T>C | CA502131212 | CEP295NL,TIMP2 | c.57A>G (p.Ala19=) c.288A>G (p.Ala96=) | |
17 | g.78870950T>G | CA502131214 | CEP295NL,TIMP2 | c.57A>C (p.Ala19=) c.288A>C (p.Ala96=) | |
17 | g.78870951G>A | CA401286857 | CEP295NL,TIMP2 | c.56C>T (p.Ala19Val) c.287C>T (p.Ala96Val) | |
17 | g.78870951G>C | CA401286861 | CEP295NL,TIMP2 | c.56C>G (p.Ala19Gly) c.287C>G (p.Ala96Gly) | |
17 | g.78870951G>T | CA401286859 | CEP295NL,TIMP2 | c.56C>A (p.Ala19Glu) c.287C>A (p.Ala96Glu) | COSMIC |
17 | g.78870952C>A | CA401286865 | CEP295NL,TIMP2 | c.55G>T (p.Ala19Ser) c.286G>T (p.Ala96Ser) | |
17 | g.78870952C>G | CA401286867 | CEP295NL,TIMP2 | c.55G>C (p.Ala19Pro) c.286G>C (p.Ala96Pro) | |
17 | g.78870952C>T | CA401286870 | CEP295NL,TIMP2 | c.55G>A (p.Ala19Thr) c.286G>A (p.Ala96Thr) | |
17 | g.78870953C>A | CA502131224 | CEP295NL,TIMP2 | c.54G>T (p.Ser18=) c.285G>T (p.Ser95=) | |
17 | g.78870953C= | CA2277198174 | CEP295NL,TIMP2 | c.54G= (p.Ser18=) c.285G= (p.Ser95=) | |
17 | g.78870953C>G | CA502131226 | CEP295NL,TIMP2 | c.54G>C (p.Ser18=) c.285G>C (p.Ser95=) | |
17 | g.78870953C>T | CA8807709 | CEP295NL,TIMP2 | c.54G>A (p.Ser18=) c.285G>A (p.Ser95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870953_78870956delinsCGAG | CA2277198173 | CEP295NL,TIMP2 | c.51_54delinsCTCG (p.Ser17=) c.282_285delinsCTCG (p.Ser94=) | |
17 | g.78870954G>A | CA401286874 | CEP295NL,TIMP2 | c.53C>T (p.Ser18Leu) c.284C>T (p.Ser95Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870954G>C | CA401286879 | CEP295NL,TIMP2 | c.53C>G (p.Ser18Trp) c.284C>G (p.Ser95Trp) | |
17 | g.78870954G= | CA2277198176 | CEP295NL,TIMP2 | c.53C= (p.Ser18=) c.284C= (p.Ser95=) | |
17 | g.78870954G>T | CA401286877 | CEP295NL,TIMP2 | c.53C>A (p.Ser18Ter) c.284C>A (p.Ser95Ter) | |
17 | g.78870958_78870960del | CA2277198175 | CEP295NL,TIMP2 | c.51_53del (p.Ser18del) c.282_284del (p.Ser95del) | dbSNP |
17 | g.78870955A>C | CA401286882 | CEP295NL,TIMP2 | c.52T>G (p.Ser18Ala) c.283T>G (p.Ser95Ala) | |
17 | g.78870955A>G | CA401286885 | CEP295NL,TIMP2 | c.52T>C (p.Ser18Pro) c.283T>C (p.Ser95Pro) | |
17 | g.78870955A>T | CA401286895 | CEP295NL,TIMP2 | c.52T>A (p.Ser18Thr) c.283T>A (p.Ser95Thr) | |
17 | g.78870956G>A | CA502131237 | CEP295NL,TIMP2 | c.51C>T (p.Ser17=) c.282C>T (p.Ser94=) | gnomAD v4 |
17 | g.78870956G>C | CA8807710 | CEP295NL,TIMP2 | c.51C>G (p.Ser17=) c.282C>G (p.Ser94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870956G= | CA2277198177 | CEP295NL,TIMP2 | c.51C= (p.Ser17=) c.282C= (p.Ser94=) | |
17 | g.78870956G>T | CA502131235 | CEP295NL,TIMP2 | c.51C>A (p.Ser17=) c.282C>A (p.Ser94=) | |
17 | g.78870957G>A | CA294435300 | CEP295NL,TIMP2 | c.50C>T (p.Ser17Phe) c.281C>T (p.Ser94Phe) | dbSNP |
17 | g.78870957G>C | CA401286900 | CEP295NL,TIMP2 | c.50C>G (p.Ser17Cys) c.281C>G (p.Ser94Cys) | |
17 | g.78870957G= | CA2277198178 | CEP295NL,TIMP2 | c.50C= (p.Ser17=) c.281C= (p.Ser94=) | |
17 | g.78870957G>T | CA401286901 | CEP295NL,TIMP2 | c.50C>A (p.Ser17Tyr) c.281C>A (p.Ser94Tyr) | |
17 | g.78870958A= | CA2277198179 | CEP295NL,TIMP2 | c.49T= (p.Ser17=) c.280T= (p.Ser94=) | |
17 | g.78870958A>C | CA8807711 | CEP295NL,TIMP2 | c.49T>G (p.Ser17Ala) c.280T>G (p.Ser94Ala) | dbSNP ExAC gnomAD v2 |
17 | g.78870958A>G | CA401286904 | CEP295NL,TIMP2 | c.49T>C (p.Ser17Pro) c.280T>C (p.Ser94Pro) | |
17 | g.78870958A>T | CA401286907 | CEP295NL,TIMP2 | c.49T>A (p.Ser17Thr) c.280T>A (p.Ser94Thr) | |
17 | g.78870959G>A | CA8807712 | CEP295NL,TIMP2 | c.48C>T (p.Pro16=) c.279C>T (p.Pro93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870959G>C | CA502131250 | CEP295NL,TIMP2 | c.48C>G (p.Pro16=) c.279C>G (p.Pro93=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870959G= | CA2277198180 | CEP295NL,TIMP2 | c.48C= (p.Pro16=) c.279C= (p.Pro93=) | |
17 | g.78870959G>T | CA502131252 | CEP295NL,TIMP2 | c.48C>A (p.Pro16=) c.279C>A (p.Pro93=) | gnomAD v4 |
17 | g.78870963dup | CA2810547049 | CEP295NL,TIMP2 | c.48dup (p.Ser17LeufsTer?) c.48dup (p.Ser17LeufsTer23) c.279dup (p.Ser94LeufsTer?) | |
17 | g.78870963del | CA502131254 | CEP295NL,TIMP2 | c.48del (p.Ser17ProfsTer?) c.279del (p.Ser94ProfsTer?) | COSMIC |
17 | g.78870960G>A | CA401286911 | CEP295NL,TIMP2 | c.47C>T (p.Pro16Leu) c.278C>T (p.Pro93Leu) | dbSNP gnomAD v4 |
17 | g.78870960G>C | CA8807713 | CEP295NL,TIMP2 | c.47C>G (p.Pro16Arg) c.278C>G (p.Pro93Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870960G= | CA2277198181 | CEP295NL,TIMP2 | c.47C= (p.Pro16=) c.278C= (p.Pro93=) | |
17 | g.78870960G>T | CA401286914 | CEP295NL,TIMP2 | c.47C>A (p.Pro16His) c.278C>A (p.Pro93His) | |
17 | g.78870961G>A | CA401286918 | CEP295NL,TIMP2 | c.46C>T (p.Pro16Ser) c.277C>T (p.Pro93Ser) | |
17 | g.78870961G>C | CA401286920 | CEP295NL,TIMP2 | c.46C>G (p.Pro16Ala) c.277C>G (p.Pro93Ala) | |
17 | g.78870961G>T | CA401286919 | CEP295NL,TIMP2 | c.46C>A (p.Pro16Thr) c.277C>A (p.Pro93Thr) | |
17 | g.78870962G>A | CA502131263 | CEP295NL,TIMP2 | c.45C>T (p.Ala15=) c.276C>T (p.Ala92=) | gnomAD v4 |
17 | g.78870962G>C | CA502131265 | CEP295NL,TIMP2 | c.45C>G (p.Ala15=) c.276C>G (p.Ala92=) | |
17 | g.78870962G>T | CA502131267 | CEP295NL,TIMP2 | c.45C>A (p.Ala15=) c.276C>A (p.Ala92=) | |
17 | g.78870963G>A | CA401286922 | CEP295NL,TIMP2 | c.44C>T (p.Ala15Val) c.275C>T (p.Ala92Val) | dbSNP COSMIC |
17 | g.78870963G>C | CA401286924 | CEP295NL,TIMP2 | c.44C>G (p.Ala15Gly) c.275C>G (p.Ala92Gly) | |
17 | g.78870963G= | CA2277198182 | CEP295NL,TIMP2 | c.44C= (p.Ala15=) c.275C= (p.Ala92=) | |
17 | g.78870963G>T | CA401286927 | CEP295NL,TIMP2 | c.44C>A (p.Ala15Asp) c.275C>A (p.Ala92Asp) | |
17 | g.78870964C>A | CA401286929 | CEP295NL,TIMP2 | c.43G>T (p.Ala15Ser) c.274G>T (p.Ala92Ser) | |
17 | g.78870964C= | CA2277198183 | CEP295NL,TIMP2 | c.43G= (p.Ala15=) c.274G= (p.Ala92=) | |
17 | g.78870964C>G | CA401286931 | CEP295NL,TIMP2 | c.43G>C (p.Ala15Pro) c.274G>C (p.Ala92Pro) | gnomAD v4 |
17 | g.78870964C>T | CA401286934 | CEP295NL,TIMP2 | c.43G>A (p.Ala15Thr) c.274G>A (p.Ala92Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.78870965C>A | CA502131275 | CEP295NL,TIMP2 | c.42G>T (p.Thr14=) c.273G>T (p.Thr91=) | |
17 | g.78870965C= | CA2277198184 | CEP295NL,TIMP2 | c.42G= (p.Thr14=) c.273G= (p.Thr91=) | |
17 | g.78870965C>G | CA502131277 | CEP295NL,TIMP2 | c.42G>C (p.Thr14=) c.273G>C (p.Thr91=) | |
17 | g.78870965C>T | CA8807714 | CEP295NL,TIMP2 | c.42G>A (p.Thr14=) c.273G>A (p.Thr91=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870966G>A | CA401286938 | CEP295NL,TIMP2 | c.41C>T (p.Thr14Met) c.272C>T (p.Thr91Met) | gnomAD v4 |
17 | g.78870966G>C | CA401286941 | CEP295NL,TIMP2 | c.41C>G (p.Thr14Arg) c.272C>G (p.Thr91Arg) | |
17 | g.78870966G>T | CA401286946 | CEP295NL,TIMP2 | c.41C>A (p.Thr14Lys) c.272C>A (p.Thr91Lys) | |
17 | g.78870967T>A | CA401286949 | CEP295NL,TIMP2 | c.40A>T (p.Thr14Ser) c.271A>T (p.Thr91Ser) | |
17 | g.78870967T>C | CA401286950 | CEP295NL,TIMP2 | c.40A>G (p.Thr14Ala) c.271A>G (p.Thr91Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870967T>G | CA401286952 | CEP295NL,TIMP2 | c.40A>C (p.Thr14Pro) c.271A>C (p.Thr91Pro) | |
17 | g.78870967T= | CA2277198185 | CEP295NL,TIMP2 | c.40A= (p.Thr14=) c.271A= (p.Thr91=) | |
17 | g.78870968G>A | CA502131286 | CEP295NL,TIMP2 | c.39C>T (p.Tyr13=) c.270C>T (p.Tyr90=) | |
17 | g.78870968G>C | CA401286955 | CEP295NL,TIMP2 | c.39C>G (p.Tyr13Ter) c.270C>G (p.Tyr90Ter) | |
17 | g.78870968G>T | CA401286957 | CEP295NL,TIMP2 | c.39C>A (p.Tyr13Ter) c.270C>A (p.Tyr90Ter) | |
17 | g.78870969T>A | CA8807715 | CEP295NL,TIMP2 | c.38A>T (p.Tyr13Phe) c.269A>T (p.Tyr90Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870969T>C | CA8807716 | CEP295NL,TIMP2 | c.38A>G (p.Tyr13Cys) c.269A>G (p.Tyr90Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870969T>G | CA401286964 | CEP295NL,TIMP2 | c.38A>C (p.Tyr13Ser) c.269A>C (p.Tyr90Ser) | |
17 | g.78870969T= | CA2277198186 | CEP295NL,TIMP2 | c.38A= (p.Tyr13=) c.269A= (p.Tyr90=) | |
17 | g.78870970A= | CA2277198187 | CEP295NL,TIMP2 | c.37T= (p.Tyr13=) c.268T= (p.Tyr90=) | |
17 | g.78870970A>C | CA401286966 | CEP295NL,TIMP2 | c.37T>G (p.Tyr13Asp) c.268T>G (p.Tyr90Asp) | |
17 | g.78870970A>G | CA8807717 | CEP295NL,TIMP2 | c.37T>C (p.Tyr13His) c.268T>C (p.Tyr90His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870970A>T | CA401286968 | CEP295NL,TIMP2 | c.37T>A (p.Tyr13Asn) c.268T>A (p.Tyr90Asn) | |
17 | g.78870971G>A | CA502131298 | CEP295NL,TIMP2 | c.36C>T (p.Ile12=) c.267C>T (p.Ile89=) | |
17 | g.78870971G>C | CA401286971 | CEP295NL,TIMP2 | c.36C>G (p.Ile12Met) c.267C>G (p.Ile89Met) | |
17 | g.78870971G>T | CA502131301 | CEP295NL,TIMP2 | c.36C>A (p.Ile12=) c.267C>A (p.Ile89=) | |
17 | g.78870972A>C | CA401286974 | CEP295NL,TIMP2 | c.35T>G (p.Ile12Ser) c.266T>G (p.Ile89Ser) | |
17 | g.78870972A>G | CA401286977 | CEP295NL,TIMP2 | c.35T>C (p.Ile12Thr) c.266T>C (p.Ile89Thr) | |
17 | g.78870972A>T | CA401286979 | CEP295NL,TIMP2 | c.35T>A (p.Ile12Asn) c.266T>A (p.Ile89Asn) | |
17 | g.78870973_78870976del | CA2510640693 | CEP295NL,TIMP2 | c.32_35del (p.Phe11SerfsTer?) c.263_266del (p.Phe88SerfsTer?) | |
17 | g.78870973T>A | CA401286986 | CEP295NL,TIMP2 | c.34A>T (p.Ile12Phe) c.265A>T (p.Ile89Phe) | |
17 | g.78870973T>C | CA401286984 | CEP295NL,TIMP2 | c.34A>G (p.Ile12Val) c.265A>G (p.Ile89Val) | |
17 | g.78870973T>G | CA401286983 | CEP295NL,TIMP2 | c.34A>C (p.Ile12Leu) c.265A>C (p.Ile89Leu) | |
17 | g.78870974A>C | CA401286989 | CEP295NL,TIMP2 | c.33T>G (p.Phe11Leu) c.264T>G (p.Phe88Leu) | |
17 | g.78870974A>G | CA502131316 | CEP295NL,TIMP2 | c.33T>C (p.Phe11=) c.264T>C (p.Phe88=) | gnomAD v4 |
17 | g.78870974A>T | CA401286991 | CEP295NL,TIMP2 | c.33T>A (p.Phe11Leu) c.264T>A (p.Phe88Leu) | |
17 | g.78870975A>C | CA401286995 | CEP295NL,TIMP2 | c.32T>G (p.Phe11Cys) c.263T>G (p.Phe88Cys) | |
17 | g.78870975A>G | CA401286996 | CEP295NL,TIMP2 | c.32T>C (p.Phe11Ser) c.263T>C (p.Phe88Ser) | |
17 | g.78870975A>T | CA401286998 | CEP295NL,TIMP2 | c.32T>A (p.Phe11Tyr) c.263T>A (p.Phe88Tyr) | |
17 | g.78870976A>C | CA401287002 | CEP295NL,TIMP2 | c.31T>G (p.Phe11Val) c.262T>G (p.Phe88Val) | |
17 | g.78870976A>G | CA401287004 | CEP295NL,TIMP2 | c.31T>C (p.Phe11Leu) c.262T>C (p.Phe88Leu) | |
17 | g.78870976A>T | CA401287005 | CEP295NL,TIMP2 | c.31T>A (p.Phe11Ile) c.262T>A (p.Phe88Ile) | |
17 | g.78870977C>A | CA401287007 | CEP295NL,TIMP2 | c.30G>T (p.Glu10Asp) c.261G>T (p.Glu87Asp) | |
17 | g.78870977C>G | CA401287009 | CEP295NL,TIMP2 | c.30G>C (p.Glu10Asp) c.261G>C (p.Glu87Asp) | |
17 | g.78870977C>T | CA502131326 | CEP295NL,TIMP2 | c.30G>A (p.Glu10=) c.261G>A (p.Glu87=) | dbSNP gnomAD v4 |
17 | g.78870978T>A | CA401287011 | CEP295NL,TIMP2 | c.29A>T (p.Glu10Val) c.260A>T (p.Glu87Val) | |
17 | g.78870978T>C | CA401287013 | CEP295NL,TIMP2 | c.29A>G (p.Glu10Gly) c.260A>G (p.Glu87Gly) | |
17 | g.78870978T>G | CA401287016 | CEP295NL,TIMP2 | c.29A>C (p.Glu10Ala) c.260A>C (p.Glu87Ala) | |
17 | g.78870979C>A | CA401287022 | CEP295NL,TIMP2 | c.28G>T (p.Glu10Ter) c.259G>T (p.Glu87Ter) | |
17 | g.78870979C>G | CA401287019 | CEP295NL,TIMP2 | c.28G>C (p.Glu10Gln) c.259G>C (p.Glu87Gln) | |
17 | g.78870979C>T | CA401287020 | CEP295NL,TIMP2 | c.28G>A (p.Glu10Lys) c.259G>A (p.Glu87Lys) | |
17 | g.78870980T>A | CA502131338 | CEP295NL,TIMP2 | c.27A>T (p.Ile9=) c.258A>T (p.Ile86=) | |
17 | g.78870980T>C | CA401287024 | CEP295NL,TIMP2 | c.27A>G (p.Ile9Met) c.258A>G (p.Ile86Met) | |
17 | g.78870980T>G | CA502131339 | CEP295NL,TIMP2 | c.27A>C (p.Ile9=) c.258A>C (p.Ile86=) | dbSNP |
17 | g.78870981A= | CA2277198188 | CEP295NL,TIMP2 | c.26T= (p.Ile9=) c.257T= (p.Ile86=) | |
17 | g.78870981A>C | CA401287027 | CEP295NL,TIMP2 | c.26T>G (p.Ile9Arg) c.257T>G (p.Ile86Arg) | |
17 | g.78870981A>G | CA401287029 | CEP295NL,TIMP2 | c.26T>C (p.Ile9Thr) c.257T>C (p.Ile86Thr) | dbSNP gnomAD v4 |
17 | g.78870981A>T | CA401287032 | CEP295NL,TIMP2 | c.26T>A (p.Ile9Lys) c.257T>A (p.Ile86Lys) | |
17 | g.78870982T>A | CA401287036 | CEP295NL,TIMP2 | c.25A>T (p.Ile9Leu) c.256A>T (p.Ile86Leu) | |
17 | g.78870982T>C | CA401287038 | CEP295NL,TIMP2 | c.25A>G (p.Ile9Val) c.256A>G (p.Ile86Val) | |
17 | g.78870982T>G | CA401287040 | CEP295NL,TIMP2 | c.25A>C (p.Ile9Leu) c.256A>C (p.Ile86Leu) | |
17 | g.78870983A>C | CA401287043 | CEP295NL,TIMP2 | c.24T>G (p.Asp8Glu) c.255T>G (p.Asp85Glu) | |
17 | g.78870983A>G | CA502131350 | CEP295NL,TIMP2 | c.24T>C (p.Asp8=) c.255T>C (p.Asp85=) | dbSNP |
17 | g.78870983A>T | CA401287045 | CEP295NL,TIMP2 | c.24T>A (p.Asp8Glu) c.255T>A (p.Asp85Glu) | |
17 | g.78870984T>A | CA401287048 | CEP295NL,TIMP2 | c.23A>T (p.Asp8Val) c.254A>T (p.Asp85Val) | dbSNP gnomAD v4 |
17 | g.78870984T>C | CA401287050 | CEP295NL,TIMP2 | c.23A>G (p.Asp8Gly) c.254A>G (p.Asp85Gly) | |
17 | g.78870984T>G | CA401287052 | CEP295NL,TIMP2 | c.23A>C (p.Asp8Ala) c.254A>C (p.Asp85Ala) | |
17 | g.78870984T= | CA2277198189 | CEP295NL,TIMP2 | c.23A= (p.Asp8=) c.254A= (p.Asp85=) | |
17 | g.78870985C>A | CA401287058 | CEP295NL,TIMP2 | c.22G>T (p.Asp8Tyr) c.253G>T (p.Asp85Tyr) | |
17 | g.78870985C>G | CA401287060 | CEP295NL,TIMP2 | c.22G>C (p.Asp8His) c.253G>C (p.Asp85His) | |
17 | g.78870985C>T | CA401287056 | CEP295NL,TIMP2 | c.22G>A (p.Asp8Asn) c.253G>A (p.Asp85Asn) | COSMIC |
17 | g.78870985_78870988delinsCCTT | CA2277198190 | CEP295NL,TIMP2 | c.19_22delinsAAGG (p.Lys7=) c.250_253delinsAAGG (p.Lys84=) | |
17 | g.78870986C>A | CA401287063 | CEP295NL,TIMP2 | c.21G>T (p.Lys7Asn) c.252G>T (p.Lys84Asn) | |
17 | g.78870986C= | CA2277198192 | CEP295NL,TIMP2 | c.21G= (p.Lys7=) c.252G= (p.Lys84=) | |
17 | g.78870986C>G | CA401287061 | CEP295NL,TIMP2 | c.21G>C (p.Lys7Asn) c.252G>C (p.Lys84Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870986C>T | CA502131360 | CEP295NL,TIMP2 | c.21G>A (p.Lys7=) c.252G>A (p.Lys84=) | |
17 | g.78870988_78870990del | CA2277198191 | CEP295NL,TIMP2 | c.19_21del (p.Lys7del) c.250_252del (p.Lys84del) | dbSNP |
17 | g.78870987T>A | CA401287071 | CEP295NL,TIMP2 | c.20A>T (p.Lys7Met) c.251A>T (p.Lys84Met) | |
17 | g.78870987T>C | CA401287066 | CEP295NL,TIMP2 | c.20A>G (p.Lys7Arg) c.251A>G (p.Lys84Arg) | |
17 | g.78870987T>G | CA401287068 | CEP295NL,TIMP2 | c.20A>C (p.Lys7Thr) c.251A>C (p.Lys84Thr) | |
17 | g.78870988T>A | CA401287074 | CEP295NL,TIMP2 | c.19A>T (p.Lys7Ter) c.250A>T (p.Lys84Ter) | |
17 | g.78870988T>C | CA401287076 | CEP295NL,TIMP2 | c.19A>G (p.Lys7Glu) c.250A>G (p.Lys84Glu) | |
17 | g.78870988T>G | CA401287078 | CEP295NL,TIMP2 | c.19A>C (p.Lys7Gln) c.250A>C (p.Lys84Gln) | |
17 | g.78870989C>A | CA401287081 | CEP295NL,TIMP2 | c.18G>T (p.Glu6Asp) c.249G>T (p.Glu83Asp) | COSMIC |
17 | g.78870989C>G | CA401287083 | CEP295NL,TIMP2 | c.18G>C (p.Glu6Asp) c.249G>C (p.Glu83Asp) | dbSNP |
17 | g.78870989C>T | CA502131370 | CEP295NL,TIMP2 | c.18G>A (p.Glu6=) c.249G>A (p.Glu83=) | dbSNP |
17 | g.78870990T>A | CA401287087 | CEP295NL,TIMP2 | c.17A>T (p.Glu6Val) c.248A>T (p.Glu83Val) | |
17 | g.78870990T>C | CA401287089 | CEP295NL,TIMP2 | c.17A>G (p.Glu6Gly) c.248A>G (p.Glu83Gly) | dbSNP |
17 | g.78870990T>G | CA401287091 | CEP295NL,TIMP2 | c.17A>C (p.Glu6Ala) c.248A>C (p.Glu83Ala) | |
17 | g.78870990T= | CA2277198193 | CEP295NL,TIMP2 | c.17A= (p.Glu6=) c.248A= (p.Glu83=) | |
17 | g.78870991C>A | CA401287095 | CEP295NL,TIMP2 | c.16G>T (p.Glu6Ter) c.247G>T (p.Glu83Ter) | |
17 | g.78870991C>G | CA401287097 | CEP295NL,TIMP2 | c.16G>C (p.Glu6Gln) c.247G>C (p.Glu83Gln) | gnomAD v4 COSMIC |
17 | g.78870991C>T | CA401287099 | CEP295NL,TIMP2 | c.16G>A (p.Glu6Lys) c.247G>A (p.Glu83Lys) | gnomAD v4 |
17 | g.78870992A>C | CA502131380 | CEP295NL,TIMP2 | c.15T>G (p.Pro5=) c.246T>G (p.Pro82=) | |
17 | g.78870992A>G | CA502131383 | CEP295NL,TIMP2 | c.15T>C (p.Pro5=) c.246T>C (p.Pro82=) | gnomAD v4 |
17 | g.78870992A>T | CA502131384 | CEP295NL,TIMP2 | c.15T>A (p.Pro5=) c.246T>A (p.Pro82=) | |
17 | g.78870993G>A | CA401287105 | CEP295NL,TIMP2 | c.14C>T (p.Pro5Leu) c.245C>T (p.Pro82Leu) | |
17 | g.78870993G>C | CA401287104 | CEP295NL,TIMP2 | c.14C>G (p.Pro5Arg) c.245C>G (p.Pro82Arg) | |
17 | g.78870993G>T | CA401287102 | CEP295NL,TIMP2 | c.14C>A (p.Pro5His) c.245C>A (p.Pro82His) | |
17 | g.78870994G>A | CA8807718 | CEP295NL,TIMP2 | c.13C>T (p.Pro5Ser) c.244C>T (p.Pro82Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870994G>C | CA401287110 | CEP295NL,TIMP2 | c.13C>G (p.Pro5Ala) c.244C>G (p.Pro82Ala) | |
17 | g.78870994G= | CA2277198194 | CEP295NL,TIMP2 | c.13C= (p.Pro5=) c.244C= (p.Pro82=) | |
17 | g.78870994G>T | CA401287112 | CEP295NL,TIMP2 | c.13C>A (p.Pro5Thr) c.244C>A (p.Pro82Thr) | |
17 | g.78870995C>A | CA502131395 | CEP295NL,TIMP2 | c.12G>T (p.Gly4=) c.243G>T (p.Gly81=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870995C= | CA2277198195 | CEP295NL,TIMP2 | c.12G= (p.Gly4=) c.243G= (p.Gly81=) | |
17 | g.78870995C>G | CA502131397 | CEP295NL,TIMP2 | c.12G>C (p.Gly4=) c.243G>C (p.Gly81=) | |
17 | g.78870995C>T | CA502131399 | CEP295NL,TIMP2 | c.12G>A (p.Gly4=) c.243G>A (p.Gly81=) | dbSNP |
17 | g.78870996C>A | CA401287116 | CEP295NL,TIMP2 | c.11G>T (p.Gly4Val) c.242G>T (p.Gly81Val) | |
17 | g.78870996C>G | CA401287118 | CEP295NL,TIMP2 | c.11G>C (p.Gly4Ala) c.242G>C (p.Gly81Ala) | |
17 | g.78870996C>T | CA401287120 | CEP295NL,TIMP2 | c.11G>A (p.Gly4Glu) c.242G>A (p.Gly81Glu) | |
17 | g.78870997C>A | CA401287123 | CEP295NL,TIMP2 | c.10G>T (p.Gly4Trp) c.241G>T (p.Gly81Trp) | |
17 | g.78870997C>G | CA401287124 | CEP295NL,TIMP2 | c.10G>C (p.Gly4Arg) c.241G>C (p.Gly81Arg) | |
17 | g.78870997C>T | CA401287127 | CEP295NL,TIMP2 | c.10G>A (p.Gly4Arg) c.241G>A (p.Gly81Arg) | gnomAD v4 |
17 | g.78870998T>A | CA401287130 | CEP295NL,TIMP2 | c.9A>T (p.Lys3Asn) c.240A>T (p.Lys80Asn) | |
17 | g.78870998T>C | CA502131409 | CEP295NL,TIMP2 | c.9A>G (p.Lys3=) c.240A>G (p.Lys80=) | |
17 | g.78870998T>G | CA401287132 | CEP295NL,TIMP2 | c.9A>C (p.Lys3Asn) c.240A>C (p.Lys80Asn) | |
17 | g.78870999T>A | CA401287136 | CEP295NL,TIMP2 | c.8A>T (p.Lys3Ile) c.239A>T (p.Lys80Ile) | |
17 | g.78870999T>C | CA401287138 | CEP295NL,TIMP2 | c.8A>G (p.Lys3Arg) c.239A>G (p.Lys80Arg) | gnomAD v4 |
17 | g.78870999T>G | CA401287140 | CEP295NL,TIMP2 | c.8A>C (p.Lys3Thr) c.239A>C (p.Lys80Thr) | |
17 | g.78871000T>A | CA401287145 | CEP295NL,TIMP2 | c.7A>T (p.Lys3Ter) c.238A>T (p.Lys80Ter) | |
17 | g.78871000T>C | CA401287148 | CEP295NL,TIMP2 | c.7A>G (p.Lys3Glu) c.238A>G (p.Lys80Glu) | |
17 | g.78871000T>G | CA401287143 | CEP295NL,TIMP2 | c.7A>C (p.Lys3Gln) c.238A>C (p.Lys80Gln) | |
17 | g.78871001G>A | CA502131419 | CEP295NL,TIMP2 | c.6C>T (p.Phe2=) c.237C>T (p.Phe79=) | gnomAD v4 |
17 | g.78871001G>C | CA401287151 | CEP295NL,TIMP2 | c.6C>G (p.Phe2Leu) c.237C>G (p.Phe79Leu) | |
17 | g.78871001G>T | CA401287153 | CEP295NL,TIMP2 | c.6C>A (p.Phe2Leu) c.237C>A (p.Phe79Leu) | |
17 | g.78871002A>C | CA401287154 | CEP295NL,TIMP2 | c.5T>G (p.Phe2Cys) c.236T>G (p.Phe79Cys) | |
17 | g.78871002A>G | CA401287156 | CEP295NL,TIMP2 | c.5T>C (p.Phe2Ser) c.236T>C (p.Phe79Ser) | |
17 | g.78871002A>T | CA401287159 | CEP295NL,TIMP2 | c.5T>A (p.Phe2Tyr) c.236T>A (p.Phe79Tyr) | |
17 | g.78871003A>C | CA401287162 | CEP295NL,TIMP2 | c.4T>G (p.Phe2Val) c.235T>G (p.Phe79Val) | |
17 | g.78871003A>G | CA401287163 | CEP295NL,TIMP2 | c.4T>C (p.Phe2Leu) c.235T>C (p.Phe79Leu) | |
17 | g.78871003A>T | CA401287166 | CEP295NL,TIMP2 | c.4T>A (p.Phe2Ile) c.235T>A (p.Phe79Ile) | |
17 | g.78871004C>A | CA401287169 | CEP295NL,TIMP2 | c.3G>T (p.Met1Ile) c.234G>T (p.Met78Ile) | |
17 | g.78871004C>G | CA401287172 | CEP295NL,TIMP2 | c.3G>C (p.Met1Ile) c.234G>C (p.Met78Ile) | |
17 | g.78871004C>T | CA401287174 | CEP295NL,TIMP2 | c.3G>A (p.Met1Ile) c.234G>A (p.Met78Ile) | |
17 | g.78871005A>C | CA401287182 | CEP295NL,TIMP2 | c.2T>G (p.Met1Arg) c.233T>G (p.Met78Arg) | |
17 | g.78871005A>G | CA401287180 | CEP295NL,TIMP2 | c.2T>C (p.Met1Thr) c.233T>C (p.Met78Thr) | |
17 | g.78871005A>T | CA401287178 | CEP295NL,TIMP2 | c.2T>A (p.Met1Lys) c.233T>A (p.Met78Lys) | |
17 | g.78871006T>A | CA401287185 | CEP295NL,TIMP2 | c.1A>T (p.Met1Leu) c.232A>T (p.Met78Leu) | |
17 | g.78871006T>C | CA401287188 | CEP295NL,TIMP2 | c.1A>G (p.Met1Val) c.232A>G (p.Met78Val) | |
17 | g.78871006T>G | CA401287190 | CEP295NL,TIMP2 | c.1A>C (p.Met1Leu) c.232A>C (p.Met78Leu) | |
17 | g.78871007C>A | CA401287192 | CEP295NL,TIMP2 | c.1-1G>T (n.1-1G>T) c.232-1G>T (n.232-1G>T) | |
17 | g.78871007C>G | CA401287195 | CEP295NL,TIMP2 | c.1-1G>C (n.1-1G>C) c.232-1G>C (n.232-1G>C) | |
17 | g.78871007C>T | CA401287196 | CEP295NL,TIMP2 | c.1-1G>A (n.1-1G>A) c.232-1G>A (n.232-1G>A) | |
17 | g.78871008T>A | CA401287199 | CEP295NL,TIMP2 | c.1-2A>T (n.1-2A>T) c.232-2A>T (n.232-2A>T) | |
17 | g.78871008T>C | CA401287201 | CEP295NL,TIMP2 | c.1-2A>G (n.1-2A>G) c.232-2A>G (n.232-2A>G) | |
17 | g.78871008T>G | CA401287203 | CEP295NL,TIMP2 | c.1-2A>C (n.1-2A>C) c.232-2A>C (n.232-2A>C) | |
17 | g.78871009G>A | CA8807719 | CEP295NL,TIMP2 | c.1-3C>T (n.1-3C>T) c.232-3C>T (n.232-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78871009G= | CA2277198196 | CEP295NL,TIMP2 | c.1-3C= (n.1-3C=) c.232-3C= (n.232-3C=) | |
17 | g.78871009G>T | CA294435347 | CEP295NL,TIMP2 | c.1-3C>A (n.1-3C>A) c.232-3C>A (n.232-3C>A) | dbSNP |
17 | g.78871010G>C | CA627660207 | CEP295NL,TIMP2 | c.1-4C>G (n.1-4C>G) c.232-4C>G (n.232-4C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78871010G= | CA2277198197 | CEP295NL,TIMP2 | c.1-4C= (n.1-4C=) c.232-4C= (n.232-4C=) | |
17 | g.78871011A= | CA2277198198 | CEP295NL,TIMP2 | c.1-5T= (n.1-5T=) c.232-5T= (n.232-5T=) | |
17 | g.78871011A>G | CA8807720 | CEP295NL,TIMP2 | c.1-5T>C (n.1-5T>C) c.232-5T>C (n.232-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |