UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.78870843A>G | CA2640201669 | TIMP2 | c.109+55T>C (n.109+55T>C) c.340+55T>C (n.340+55T>C) | gnomAD v4 |
| 17 | g.78870843A>T | CA2640201670 | TIMP2 | c.109+55T>A (n.109+55T>A) c.340+55T>A (n.340+55T>A) | gnomAD v4 |
| 17 | g.78870843_78870844delinsAG | CA2277198134 | TIMP2 | c.109+54_109+55delinsCT (n.109+54_109+55delinsCT) c.340+54_340+55delinsCT (n.340+54_340+55delinsCT) | |
| 17 | g.78870844G>C | CA2640201671 | TIMP2 | c.109+54C>G (n.109+54C>G) c.340+54C>G (n.340+54C>G) | gnomAD v4 |
| 17 | g.78870844G>T | CA2640201672 | TIMP2 | c.109+54C>A (n.109+54C>A) c.340+54C>A (n.340+54C>A) | gnomAD v4 |
| 17 | g.78870845del | CA775384508 | TIMP2 | c.109+54del (n.109+54del) c.340+54del (n.340+54del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.78870845G>A | CA986598614 | TIMP2 | c.109+53C>T (n.109+53C>T) c.340+53C>T (n.340+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.78870845G= | CA2277198135 | TIMP2 | c.109+53C= (n.109+53C=) c.340+53C= (n.340+53C=) | |
| 17 | g.78870845G>T | CA2640201673 | TIMP2 | c.109+53C>A (n.109+53C>A) c.340+53C>A (n.340+53C>A) | gnomAD v4 |
| 17 | g.78870846A>G | CA2640201674 | TIMP2 | c.109+52T>C (n.109+52T>C) c.340+52T>C (n.340+52T>C) | gnomAD v4 |
| 17 | g.78870848C>A | CA2640201675 | TIMP2 | c.109+50G>T (n.109+50G>T) c.340+50G>T (n.340+50G>T) | gnomAD v4 |
| 17 | g.78870848C= | CA2277198136 | TIMP2 | c.109+50G= (n.109+50G=) c.340+50G= (n.340+50G=) | |
| 17 | g.78870848C>T | CA8807686 | TIMP2 | c.109+50G>A (n.109+50G>A) c.340+50G>A (n.340+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870850G>A | CA2810547046 | TIMP2 | c.109+48C>T (n.109+48C>T) c.340+48C>T (n.340+48C>T) | |
| 17 | g.78870850G>T | CA2576410261 | TIMP2 | c.109+48C>A (n.109+48C>A) c.340+48C>A (n.340+48C>A) | |
| 17 | g.78870851C>A | CA8807687 | TIMP2 | c.109+47G>T (n.109+47G>T) c.340+47G>T (n.340+47G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870851C= | CA2277198137 | TIMP2 | c.109+47G= (n.109+47G=) c.340+47G= (n.340+47G=) | |
| 17 | g.78870851C>T | CA2640201676 | TIMP2 | c.109+47G>A (n.109+47G>A) c.340+47G>A (n.340+47G>A) | gnomAD v4 |
| 17 | g.78870852C>A | CA627668805 | TIMP2 | c.109+46G>T (n.109+46G>T) c.340+46G>T (n.340+46G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870852C= | CA2277198138 | TIMP2 | c.109+46G= (n.109+46G=) c.340+46G= (n.340+46G=) | |
| 17 | g.78870852C>T | CA2640201677 | TIMP2 | c.109+46G>A (n.109+46G>A) c.340+46G>A (n.340+46G>A) | gnomAD v4 |
| 17 | g.78870854C= | CA2277198139 | TIMP2 | c.109+44G= (n.109+44G=) c.340+44G= (n.340+44G=) | |
| 17 | g.78870854C>T | CA8807688 | TIMP2 | c.109+44G>A (n.109+44G>A) c.340+44G>A (n.340+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.78870857T>G | CA2640201678 | TIMP2 | c.109+41A>C (n.109+41A>C) c.340+41A>C (n.340+41A>C) | gnomAD v4 |
| 17 | g.78870860T>A | CA8807689 | TIMP2 | c.109+38A>T (n.109+38A>T) c.340+38A>T (n.340+38A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.78870860T= | CA2277198140 | TIMP2 | c.109+38A= (n.109+38A=) c.340+38A= (n.340+38A=) | |
| 17 | g.78870861G>A | CA2640201679 | TIMP2 | c.109+37C>T (n.109+37C>T) c.340+37C>T (n.340+37C>T) | gnomAD v4 |
| 17 | g.78870861G>T | CA2640201680 | TIMP2 | c.109+37C>A (n.109+37C>A) c.340+37C>A (n.340+37C>A) | gnomAD v4 |
| 17 | g.78870862T>C | CA2640201681 | TIMP2 | c.109+36A>G (n.109+36A>G) c.340+36A>G (n.340+36A>G) | gnomAD v4 |
| 17 | g.78870862T>G | CA2640201682 | TIMP2 | c.109+36A>C (n.109+36A>C) c.340+36A>C (n.340+36A>C) | gnomAD v4 |
| 17 | g.78870863G>T | CA2640201683 | TIMP2 | c.109+35C>A (n.109+35C>A) c.340+35C>A (n.340+35C>A) | gnomAD v4 |
| 17 | g.78870864C>A | CA2640201684 | TIMP2 | c.109+34G>T (n.109+34G>T) c.340+34G>T (n.340+34G>T) | gnomAD v4 |
| 17 | g.78870864C= | CA2277198141 | TIMP2 | c.109+34G= (n.109+34G=) c.340+34G= (n.340+34G=) | |
| 17 | g.78870864C>T | CA627668806 | TIMP2 | c.109+34G>A (n.109+34G>A) c.340+34G>A (n.340+34G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78870865C>G | CA2734188898 | TIMP2 | c.109+33G>C (n.109+33G>C) c.340+33G>C (n.340+33G>C) | dbSNP |
| 17 | g.78870868C>T | CA2640201686 | TIMP2 | c.109+30G>A (n.109+30G>A) c.340+30G>A (n.340+30G>A) | gnomAD v4 |
| 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.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.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) |