Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.78870869C>A | CA2277198143 | TIMP2 | c.109+29G>T (n.109+29G>T) c.340+29G>T (n.340+29G>T) | dbSNP gnomAD v4 |
17 | g.78870869C= | CA2277198142 | TIMP2 | c.109+29G= (n.109+29G=) c.340+29G= (n.340+29G=) | |
17 | g.78870872C>A | CA2576410262 | TIMP2 | c.109+26G>T (n.109+26G>T) c.340+26G>T (n.340+26G>T) | |
17 | g.78870872C= | CA2277198144 | TIMP2 | c.109+26G= (n.109+26G=) c.340+26G= (n.340+26G=) | |
17 | g.78870872C>T | CA8807690 | TIMP2 | c.109+26G>A (n.109+26G>A) c.340+26G>A (n.340+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870873G>A | CA8807692 | TIMP2 | c.109+25C>T (n.109+25C>T) c.340+25C>T (n.340+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.78870873G= | CA2277198145 | TIMP2 | c.109+25C= (n.109+25C=) c.340+25C= (n.340+25C=) | |
17 | g.78870873G>T | CA8807691 | TIMP2 | c.109+25C>A (n.109+25C>A) c.340+25C>A (n.340+25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870874G>A | CA627668807 | TIMP2 | c.109+24C>T (n.109+24C>T) c.340+24C>T (n.340+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870874G>C | CA8807693 | TIMP2 | c.109+24C>G (n.109+24C>G) c.340+24C>G (n.340+24C>G) | dbSNP ExAC gnomAD v2 |
17 | g.78870874G= | CA2277198146 | TIMP2 | c.109+24C= (n.109+24C=) c.340+24C= (n.340+24C=) | |
17 | g.78870874G>T | CA2640201687 | TIMP2 | c.109+24C>A (n.109+24C>A) c.340+24C>A (n.340+24C>A) | gnomAD v4 |
17 | g.78870877G>T | CA2640201688 | TIMP2 | c.109+21C>A (n.109+21C>A) c.340+21C>A (n.340+21C>A) | gnomAD v4 |
17 | g.78870879T>C | CA8807694 | TIMP2 | c.109+19A>G (n.109+19A>G) c.340+19A>G (n.340+19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870879T= | CA2277198147 | TIMP2 | c.109+19A= (n.109+19A=) c.340+19A= (n.340+19A=) | |
17 | g.78870879_78870880delinsTG | CA2277198148 | TIMP2 | c.109+18_109+19delinsCA (n.109+18_109+19delinsCA) c.340+18_340+19delinsCA (n.340+18_340+19delinsCA) | |
17 | g.78870880G>A | CA2640201689 | TIMP2 | c.109+18C>T (n.109+18C>T) c.340+18C>T (n.340+18C>T) | gnomAD v4 |
17 | g.78870880G>T | CA2576410263 | TIMP2 | c.109+18C>A (n.109+18C>A) c.340+18C>A (n.340+18C>A) | gnomAD v4 |
17 | g.78870881del | CA8807695 | TIMP2 | c.109+18del (n.109+18del) c.340+18del (n.340+18del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870881G>A | CA2640201690 | TIMP2 | c.109+17C>T (n.109+17C>T) c.340+17C>T (n.340+17C>T) | gnomAD v4 |
17 | g.78870881G>T | CA656886775 | TIMP2 | c.109+17C>A (n.109+17C>A) c.340+17C>A (n.340+17C>A) | gnomAD v4 COSMIC |
17 | g.78870882C>A | CA2640201691 | TIMP2 | c.109+16G>T (n.109+16G>T) c.340+16G>T (n.340+16G>T) | gnomAD v4 |
17 | g.78870882C= | CA2277198149 | TIMP2 | c.109+16G= (n.109+16G=) c.340+16G= (n.340+16G=) | |
17 | g.78870882C>T | CA294435166 | TIMP2 | c.109+16G>A (n.109+16G>A) c.340+16G>A (n.340+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870883C>A | CA8807696 | TIMP2 | c.109+15G>T (n.109+15G>T) c.340+15G>T (n.340+15G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870883C= | CA2277198150 | TIMP2 | c.109+15G= (n.109+15G=) c.340+15G= (n.340+15G=) | |
17 | g.78870883C>T | CA2640201692 | TIMP2 | c.109+15G>A (n.109+15G>A) c.340+15G>A (n.340+15G>A) | gnomAD v4 |
17 | g.78870886A>T | CA2842479645 | TIMP2 | c.109+12T>A (n.109+12T>A) c.340+12T>A (n.340+12T>A) | |
17 | g.78870887C= | CA2277198151 | TIMP2 | c.109+11G= (n.109+11G=) c.340+11G= (n.340+11G=) | |
17 | g.78870887C>G | CA2277198152 | TIMP2 | c.109+11G>C (n.109+11G>C) c.340+11G>C (n.340+11G>C) | dbSNP |
17 | g.78870887C>T | CA2277198153 | TIMP2 | c.109+11G>A (n.109+11G>A) c.340+11G>A (n.340+11G>A) | dbSNP |
17 | g.78870889C>A | CA627660206 | TIMP2 | c.109+9G>T (n.109+9G>T) c.340+9G>T (n.340+9G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870889C= | CA2277198154 | TIMP2 | c.109+9G= (n.109+9G=) c.340+9G= (n.340+9G=) | |
17 | g.78870890A>G | CA2576410264 | TIMP2 | c.109+8T>C (n.109+8T>C) c.340+8T>C (n.340+8T>C) | |
17 | g.78870891_78870892del | CA2810547047 | TIMP2 | c.109+7_109+8del (n.109+7_109+8del) c.340+7_340+8del (n.340+7_340+8del) | |
17 | g.78870891T>C | CA2640201695 | TIMP2 | c.109+7A>G (n.109+7A>G) c.340+7A>G (n.340+7A>G) | gnomAD v4 |
17 | g.78870892A= | CA2277198155 | TIMP2 | c.109+6T= (n.109+6T=) c.340+6T= (n.340+6T=) | |
17 | g.78870892A>G | CA8807697 | TIMP2 | c.109+6T>C (n.109+6T>C) c.340+6T>C (n.340+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870893C>A | CA2810547048 | TIMP2 | c.109+5G>T (n.109+5G>T) c.340+5G>T (n.340+5G>T) | |
17 | g.78870893C= | CA2277198156 | TIMP2 | c.109+5G= (n.109+5G=) c.340+5G= (n.340+5G=) | |
17 | g.78870893C>T | CA8807698 | TIMP2 | c.109+5G>A (n.109+5G>A) c.340+5G>A (n.340+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870895C>A | CA2640201696 | TIMP2 | c.109+3G>T (n.109+3G>T) c.340+3G>T (n.340+3G>T) | gnomAD v4 |
17 | g.78870895C= | CA2277198157 | TIMP2 | c.109+3G= (n.109+3G=) c.340+3G= (n.340+3G=) | |
17 | g.78870895C>T | CA8807699 | TIMP2 | c.109+3G>A (n.109+3G>A) c.340+3G>A (n.340+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.78870896A>C | CA401286517 | TIMP2 | c.109+2T>G (n.109+2T>G) c.340+2T>G (n.340+2T>G) | |
17 | g.78870896A>G | CA401286514 | TIMP2 | c.109+2T>C (n.109+2T>C) c.340+2T>C (n.340+2T>C) | |
17 | g.78870896A>T | CA401286511 | TIMP2 | c.109+2T>A (n.109+2T>A) c.340+2T>A (n.340+2T>A) | |
17 | g.78870897C>A | CA401286520 | TIMP2 | c.109+1G>T (n.109+1G>T) c.340+1G>T (n.340+1G>T) | |
17 | g.78870897C>G | CA401286531 | TIMP2 | c.109+1G>C (n.109+1G>C) c.340+1G>C (n.340+1G>C) | |
17 | g.78870897C>T | CA401286533 | TIMP2 | c.109+1G>A (n.109+1G>A) c.340+1G>A (n.340+1G>A) | |
17 | g.78870898C>A | CA401286538 | TIMP2 | c.109G>T (p.Gly37Ter) c.109G>T (p.Ala37Ser) c.340G>T (p.Gly114Ter) | |
17 | g.78870898C>G | CA401286540 | TIMP2 | c.109G>C (p.Gly37Arg) c.109G>C (p.Ala37Pro) c.340G>C (p.Gly114Arg) | |
17 | g.78870898C>T | CA401286544 | TIMP2 | c.109G>A (p.Gly37Arg) c.109G>A (p.Ala37Thr) c.340G>A (p.Gly114Arg) | |
17 | g.78870899T>A | CA502131010 | TIMP2 | c.108A>T (p.Ala36=) c.339A>T (p.Ala113=) | |
17 | g.78870899T>C | CA502131008 | TIMP2 | c.108A>G (p.Ala36=) c.339A>G (p.Ala113=) | gnomAD v4 |
17 | g.78870899T>G | CA502131006 | TIMP2 | c.108A>C (p.Ala36=) c.339A>C (p.Ala113=) | |
17 | g.78870900G>A | CA401286547 | TIMP2 | c.107C>T (p.Ala36Val) c.338C>T (p.Ala113Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.78870900G>C | CA401286551 | TIMP2 | c.107C>G (p.Ala36Gly) c.338C>G (p.Ala113Gly) | |
17 | g.78870900G= | CA2277198158 | TIMP2 | c.107C= (p.Ala36=) c.338C= (p.Ala113=) | |
17 | g.78870900G>T | CA401286549 | TIMP2 | c.107C>A (p.Ala36Glu) c.338C>A (p.Ala113Glu) | |
17 | g.78870901C>A | CA401286555 | TIMP2 | c.106G>T (p.Ala36Ser) c.337G>T (p.Ala113Ser) | gnomAD v4 |
17 | g.78870901C>G | CA401286560 | TIMP2 | c.106G>C (p.Ala36Pro) c.337G>C (p.Ala113Pro) | |
17 | g.78870901C>T | CA401286563 | TIMP2 | c.106G>A (p.Ala36Thr) c.337G>A (p.Ala113Thr) | |
17 | g.78870902A>C | CA401286565 | TIMP2 | c.105T>G (p.Ile35Met) c.336T>G (p.Ile112Met) | |
17 | g.78870902A>G | CA502131020 | TIMP2 | c.105T>C (p.Ile35=) c.336T>C (p.Ile112=) | |
17 | g.78870902A>T | CA502131022 | TIMP2 | c.105T>A (p.Ile35=) c.336T>A (p.Ile112=) | |
17 | g.78870903A>C | CA401286569 | TIMP2 | c.104T>G (p.Ile35Ser) c.335T>G (p.Ile112Ser) | |
17 | g.78870903A>G | CA401286573 | TIMP2 | c.104T>C (p.Ile35Thr) c.335T>C (p.Ile112Thr) | |
17 | g.78870903A>T | CA401286575 | TIMP2 | c.104T>A (p.Ile35Asn) c.335T>A (p.Ile112Asn) | |
17 | g.78870904T>A | CA401286585 | TIMP2 | c.103A>T (p.Ile35Phe) c.334A>T (p.Ile112Phe) | |
17 | g.78870904T>C | CA401286588 | TIMP2 | c.103A>G (p.Ile35Val) c.334A>G (p.Ile112Val) | |
17 | g.78870904T>G | CA401286591 | TIMP2 | c.103A>C (p.Ile35Leu) c.334A>C (p.Ile112Leu) | gnomAD v4 |
17 | g.78870905G>A | CA8807700 | TIMP2 | c.102C>T (p.Leu34=) c.333C>T (p.Leu111=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.78870905G>C | CA502131032 | TIMP2 | c.102C>G (p.Leu34=) c.333C>G (p.Leu111=) | |
17 | g.78870905G= | CA2277198159 | TIMP2 | c.102C= (p.Leu34=) c.333C= (p.Leu111=) | |
17 | g.78870905G>T | CA502131034 | TIMP2 | c.102C>A (p.Leu34=) c.333C>A (p.Leu111=) | |
17 | g.78870906A>C | CA401286597 | TIMP2 | c.101T>G (p.Leu34Arg) c.332T>G (p.Leu111Arg) | |
17 | g.78870906A>G | CA401286599 | TIMP2 | c.101T>C (p.Leu34Pro) c.332T>C (p.Leu111Pro) | |
17 | g.78870906A>T | CA401286598 | TIMP2 | c.101T>A (p.Leu34His) c.332T>A (p.Leu111His) | |
17 | g.78870907G>A | CA401286601 | TIMP2 | c.100C>T (p.Leu34Phe) c.331C>T (p.Leu111Phe) | |
17 | g.78870907G>C | CA401286603 | TIMP2 | c.100C>G (p.Leu34Val) c.331C>G (p.Leu111Val) | |
17 | g.78870907G>T | CA401286609 | TIMP2 | c.100C>A (p.Leu34Ile) c.331C>A (p.Leu111Ile) | |
17 | g.78870908A>C | CA401286611 | TIMP2 | c.99T>G (p.Tyr33Ter) c.330T>G (p.Tyr110Ter) | |
17 | g.78870908A>G | CA502131043 | TIMP2 | c.99T>C (p.Tyr33=) c.330T>C (p.Tyr110=) | |
17 | g.78870908A>T | CA401286615 | TIMP2 | c.99T>A (p.Tyr33Ter) c.330T>A (p.Tyr110Ter) | |
17 | g.78870909T>A | CA401286620 | TIMP2 | c.98A>T (p.Tyr33Phe) c.329A>T (p.Tyr110Phe) | |
17 | g.78870909T>C | CA401286619 | TIMP2 | c.98A>G (p.Tyr33Cys) c.329A>G (p.Tyr110Cys) | |
17 | g.78870909T>G | CA401286618 | TIMP2 | c.98A>C (p.Tyr33Ser) c.329A>C (p.Tyr110Ser) | |
17 | g.78870910A>C | CA401286623 | CEP295NL,TIMP2 | c.97T>G (p.Tyr33Asp) c.328T>G (p.Tyr110Asp) c.97T>G | |
17 | g.78870910A>G | CA401286626 | CEP295NL,TIMP2 | c.97T>C (p.Tyr33His) c.328T>C (p.Tyr110His) c.97T>C | |
17 | g.78870910A>T | CA401286628 | CEP295NL,TIMP2 | c.97T>A (p.Tyr33Asn) c.328T>A (p.Tyr110Asn) c.97T>A | |
17 | g.78870911T>A | CA401286632 | CEP295NL,TIMP2 | c.96A>T (p.Glu32Asp) c.327A>T (p.Glu109Asp) | gnomAD v4 |
17 | g.78870911T>C | CA8807701 | CEP295NL,TIMP2 | c.96A>G (p.Glu32=) c.327A>G (p.Glu109=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.78870911T>G | CA401286639 | CEP295NL,TIMP2 | c.96A>C (p.Glu32Asp) c.327A>C (p.Glu109Asp) | gnomAD v4 |
17 | g.78870911T= | CA2277198160 | CEP295NL,TIMP2 | c.96A= (p.Glu32=) c.327A= (p.Glu109=) | |
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=) |