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 |
|---|---|---|---|---|---|
| 15 | g.88858731C>A | CA393726649 | ACAN | c.6146C>A (p.Thr2049Asn) c.6089C>A (p.Thr2030Asn) | |
| 15 | g.88858731C= | CA2194343492 | ACAN | c.6146C= (p.Thr2049=) c.6089C= (p.Thr2030=) | |
| 15 | g.88858731C>G | CA393726650 | ACAN | c.6146C>G (p.Thr2049Ser) c.6089C>G (p.Thr2030Ser) | |
| 15 | g.88858731C>T | CA274485423 | ACAN | c.6146C>T (p.Thr2049Ile) c.6089C>T (p.Thr2030Ile) | dbSNP gnomAD v4 |
| 15 | g.88858732T>A | CA492287635 | ACAN | c.6147T>A (p.Thr2049=) c.6090T>A (p.Thr2030=) | |
| 15 | g.88858732T>C | CA7720346 | ACAN | c.6147T>C (p.Thr2049=) c.6090T>C (p.Thr2030=) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 15 | g.88858732T>G | CA492287636 | ACAN | c.6147T>G (p.Thr2049=) c.6090T>G (p.Thr2030=) | |
| 15 | g.88858732T= | CA2194343493 | ACAN | c.6147T= (p.Thr2049=) c.6090T= (p.Thr2030=) | |
| 15 | g.88858733A= | CA2194343494 | ACAN | c.6148A= (p.Ile2050=) c.6091A= (p.Ile2031=) | |
| 15 | g.88858733A>C | CA393726651 | ACAN | c.6148A>C (p.Ile2050Leu) c.6091A>C (p.Ile2031Leu) | |
| 15 | g.88858733A>G | CA274485434 | ACAN | c.6148A>G (p.Ile2050Val) c.6091A>G (p.Ile2031Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858733A>T | CA393726652 | ACAN | c.6148A>T (p.Ile2050Phe) c.6091A>T (p.Ile2031Phe) | |
| 15 | g.88858734T>A | CA393726653 | ACAN | c.6149T>A (p.Ile2050Asn) c.6092T>A (p.Ile2031Asn) | |
| 15 | g.88858734T>C | CA393726654 | ACAN | c.6149T>C (p.Ile2050Thr) c.6092T>C (p.Ile2031Thr) | gnomAD v4 |
| 15 | g.88858734T>G | CA393726655 | ACAN | c.6149T>G (p.Ile2050Ser) c.6092T>G (p.Ile2031Ser) | |
| 15 | g.88858735T>A | CA492287642 | ACAN | c.6150T>A (p.Ile2050=) c.6093T>A (p.Ile2031=) | |
| 15 | g.88858735T>C | CA492287643 | ACAN | c.6150T>C (p.Ile2050=) c.6093T>C (p.Ile2031=) | |
| 15 | g.88858735T>G | CA393726656 | ACAN | c.6150T>G (p.Ile2050Met) c.6093T>G (p.Ile2031Met) | gnomAD v4 |
| 15 | g.88858736T>A | CA393726657 | ACAN | c.6151T>A (p.Ser2051Thr) c.6094T>A (p.Ser2032Thr) | dbSNP |
| 15 | g.88858736T>C | CA393726658 | ACAN | c.6151T>C (p.Ser2051Pro) c.6094T>C (p.Ser2032Pro) | |
| 15 | g.88858736T>G | CA393726659 | ACAN | c.6151T>G (p.Ser2051Ala) c.6094T>G (p.Ser2032Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858736T= | CA2194343495 | ACAN | c.6151T= (p.Ser2051=) c.6094T= (p.Ser2032=) | |
| 15 | g.88858737C>A | CA393726660 | ACAN | c.6152C>A (p.Ser2051Tyr) c.6095C>A (p.Ser2032Tyr) | gnomAD v4 |
| 15 | g.88858737C>G | CA393726661 | ACAN | c.6152C>G (p.Ser2051Cys) c.6095C>G (p.Ser2032Cys) | |
| 15 | g.88858737C>T | CA393726662 | ACAN | c.6152C>T (p.Ser2051Phe) c.6095C>T (p.Ser2032Phe) | COSMIC COSMIC |
| 15 | g.88858738T>A | CA492287649 | ACAN | c.6153T>A (p.Ser2051=) c.6096T>A (p.Ser2032=) | |
| 15 | g.88858738T>C | CA492287651 | ACAN | c.6153T>C (p.Ser2051=) c.6096T>C (p.Ser2032=) | |
| 15 | g.88858738T>G | CA492287653 | ACAN | c.6153T>G (p.Ser2051=) c.6096T>G (p.Ser2032=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858738T= | CA2194343496 | ACAN | c.6153T= (p.Ser2051=) c.6096T= (p.Ser2032=) | |
| 15 | g.88858739C>A | CA393726664 | ACAN | c.6154C>A (p.Gln2052Lys) c.6097C>A (p.Gln2033Lys) | |
| 15 | g.88858739C>G | CA393726665 | ACAN | c.6154C>G (p.Gln2052Glu) c.6097C>G (p.Gln2033Glu) | |
| 15 | g.88858739C>T | CA393726663 | ACAN | c.6154C>T (p.Gln2052Ter) c.6097C>T (p.Gln2033Ter) | |
| 15 | g.88858740A>C | CA393726666 | ACAN | c.6155A>C (p.Gln2052Pro) c.6098A>C (p.Gln2033Pro) | gnomAD v4 |
| 15 | g.88858740A>G | CA393726667 | ACAN | c.6155A>G (p.Gln2052Arg) c.6098A>G (p.Gln2033Arg) | |
| 15 | g.88858740A>T | CA393726668 | ACAN | c.6155A>T (p.Gln2052Leu) c.6098A>T (p.Gln2033Leu) | |
| 15 | g.88858741G>A | CA492287659 | ACAN | c.6156G>A (p.Gln2052=) c.6099G>A (p.Gln2033=) | dbSNP |
| 15 | g.88858741G>C | CA393726669 | ACAN | c.6156G>C (p.Gln2052His) c.6099G>C (p.Gln2033His) | |
| 15 | g.88858741G= | CA2194343497 | ACAN | c.6156G= (p.Gln2052=) c.6099G= (p.Gln2033=) | |
| 15 | g.88858741G>T | CA393726670 | ACAN | c.6156G>T (p.Gln2052His) c.6099G>T (p.Gln2033His) | |
| 15 | g.88858742G>A | CA7720347 | ACAN | c.6157G>A (p.Glu2053Lys) c.6100G>A (p.Glu2034Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858742G>C | CA393726672 | ACAN | c.6157G>C (p.Glu2053Gln) c.6100G>C (p.Glu2034Gln) | |
| 15 | g.88858742G= | CA2194343498 | ACAN | c.6157G= (p.Glu2053=) c.6100G= (p.Glu2034=) | |
| 15 | g.88858742G>T | CA393726671 | ACAN | c.6157G>T (p.Glu2053Ter) c.6100G>T (p.Glu2034Ter) | gnomAD v4 |
| 15 | g.88858743A>C | CA393726673 | ACAN | c.6158A>C (p.Glu2053Ala) c.6101A>C (p.Glu2034Ala) | |
| 15 | g.88858743A>G | CA393726674 | ACAN | c.6158A>G (p.Glu2053Gly) c.6101A>G (p.Glu2034Gly) | |
| 15 | g.88858743A>T | CA393726675 | ACAN | c.6158A>T (p.Glu2053Val) c.6101A>T (p.Glu2034Val) | |
| 15 | g.88858744A= | CA2194343499 | ACAN | c.6159A= (p.Glu2053=) c.6102A= (p.Glu2034=) | |
| 15 | g.88858744A>C | CA393726676 | ACAN | c.6159A>C (p.Glu2053Asp) c.6102A>C (p.Glu2034Asp) | |
| 15 | g.88858744A>G | CA7720348 | ACAN | c.6159A>G (p.Glu2053=) c.6102A>G (p.Glu2034=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858744A>T | CA393726677 | ACAN | c.6159A>T (p.Glu2053Asp) c.6102A>T (p.Glu2034Asp) | |
| 15 | g.88858745C>A | CA393726678 | ACAN | c.6160C>A (p.Leu2054Ile) c.6103C>A (p.Leu2035Ile) | |
| 15 | g.88858745C= | CA2194343500 | ACAN | c.6160C= (p.Leu2054=) c.6103C= (p.Leu2035=) | |
| 15 | g.88858745C>G | CA393726679 | ACAN | c.6160C>G (p.Leu2054Val) c.6103C>G (p.Leu2035Val) | |
| 15 | g.88858745C>T | CA7720349 | ACAN | c.6160C>T (p.Leu2054=) c.6103C>T (p.Leu2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858746T>A | CA393726680 | ACAN | c.6161T>A (p.Leu2054Gln) c.6104T>A (p.Leu2035Gln) | |
| 15 | g.88858746T>C | CA7720350 | ACAN | c.6161T>C (p.Leu2054Pro) c.6104T>C (p.Leu2035Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858746T>G | CA393726681 | ACAN | c.6161T>G (p.Leu2054Arg) c.6104T>G (p.Leu2035Arg) | |
| 15 | g.88858746T= | CA2194343501 | ACAN | c.6161T= (p.Leu2054=) c.6104T= (p.Leu2035=) | |
| 15 | g.88858747A>C | CA492287668 | ACAN | c.6162A>C (p.Leu2054=) c.6105A>C (p.Leu2035=) | |
| 15 | g.88858747A>G | CA492287670 | ACAN | c.6162A>G (p.Leu2054=) c.6105A>G (p.Leu2035=) | |
| 15 | g.88858747A>T | CA492287671 | ACAN | c.6162A>T (p.Leu2054=) c.6105A>T (p.Leu2035=) | |
| 15 | g.88858748G>A | CA7720351 | ACAN | c.6163G>A (p.Gly2055Ser) c.6106G>A (p.Gly2036Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858748G>C | CA393726682 | ACAN | c.6163G>C (p.Gly2055Arg) c.6106G>C (p.Gly2036Arg) | gnomAD v4 |
| 15 | g.88858748G= | CA2194343502 | ACAN | c.6163G= (p.Gly2055=) c.6106G= (p.Gly2036=) | |
| 15 | g.88858748G>T | CA393726683 | ACAN | c.6163G>T (p.Gly2055Cys) c.6106G>T (p.Gly2036Cys) | |
| 15 | g.88858749G>A | CA393726684 | ACAN | c.6164G>A (p.Gly2055Asp) c.6107G>A (p.Gly2036Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858749G>C | CA393726685 | ACAN | c.6164G>C (p.Gly2055Ala) c.6107G>C (p.Gly2036Ala) | |
| 15 | g.88858749G= | CA2194343503 | ACAN | c.6164G= (p.Gly2055=) c.6107G= (p.Gly2036=) | |
| 15 | g.88858749G>T | CA393726686 | ACAN | c.6164G>T (p.Gly2055Val) c.6107G>T (p.Gly2036Val) | |
| 15 | g.88858750C>A | CA492287675 | ACAN | c.6165C>A (p.Gly2055=) c.6108C>A (p.Gly2036=) | |
| 15 | g.88858750C>G | CA492287676 | ACAN | c.6165C>G (p.Gly2055=) c.6108C>G (p.Gly2036=) | |
| 15 | g.88858750C>T | CA492287677 | ACAN | c.6165C>T (p.Gly2055=) c.6108C>T (p.Gly2036=) | |
| 15 | g.88858750_88858751delinsTT | CA645586322 | ACAN | c.6165_6166delinsTT (p.Gly2056Ter) c.6108_6109delinsTT (p.Gly2037Ter) | COSMIC |
| 15 | g.88858751C>A | CA393726687 | ACAN | c.6166C>A (p.Gln2056Lys) c.6109C>A (p.Gln2037Lys) | |
| 15 | g.88858751C>G | CA393726688 | ACAN | c.6166C>G (p.Gln2056Glu) c.6109C>G (p.Gln2037Glu) | |
| 15 | g.88858751C>T | CA393726689 | ACAN | c.6166C>T (p.Gln2056Ter) c.6109C>T (p.Gln2037Ter) | |
| 15 | g.88858752A= | CA2194343504 | ACAN | c.6167A= (p.Gln2056=) c.6110A= (p.Gln2037=) | |
| 15 | g.88858752A>C | CA393726690 | ACAN | c.6167A>C (p.Gln2056Pro) c.6110A>C (p.Gln2037Pro) | |
| 15 | g.88858752A>G | CA393726691 | ACAN | c.6167A>G (p.Gln2056Arg) c.6110A>G (p.Gln2037Arg) | |
| 15 | g.88858752A>T | CA7720352 | ACAN | c.6167A>T (p.Gln2056Leu) c.6110A>T (p.Gln2037Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858753A>C | CA393726693 | ACAN | c.6168A>C (p.Gln2056His) c.6111A>C (p.Gln2037His) | |
| 15 | g.88858753A>G | CA492287682 | ACAN | c.6168A>G (p.Gln2056=) c.6111A>G (p.Gln2037=) | |
| 15 | g.88858753A>T | CA393726692 | ACAN | c.6168A>T (p.Gln2056His) c.6111A>T (p.Gln2037His) | |
| 15 | g.88858754A>C | CA492287685 | ACAN | c.6169A>C (p.Arg2057=) c.6112A>C (p.Arg2038=) | |
| 15 | g.88858754A>G | CA393726695 | ACAN | c.6169A>G (p.Arg2057Gly) c.6112A>G (p.Arg2038Gly) | |
| 15 | g.88858754A>T | CA393726694 | ACAN | c.6169A>T (p.Arg2057Trp) c.6112A>T (p.Arg2038Trp) | |
| 15 | g.88858755G>A | CA393726696 | ACAN | c.6170G>A (p.Arg2057Lys) c.6113G>A (p.Arg2038Lys) | |
| 15 | g.88858755G>C | CA393726697 | ACAN | c.6170G>C (p.Arg2057Thr) c.6113G>C (p.Arg2038Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858755G= | CA2194343505 | ACAN | c.6170G= (p.Arg2057=) c.6113G= (p.Arg2038=) | |
| 15 | g.88858755G>T | CA393726698 | ACAN | c.6170G>T (p.Arg2057Met) c.6113G>T (p.Arg2038Met) | gnomAD v4 |
| 15 | g.88858756G>A | CA492287690 | ACAN | c.6171G>A (p.Arg2057=) c.6114G>A (p.Arg2038=) | gnomAD v4 |
| 15 | g.88858756G>C | CA393726699 | ACAN | c.6171G>C (p.Arg2057Ser) c.6114G>C (p.Arg2038Ser) | |
| 15 | g.88858756G= | CA2194343506 | ACAN | c.6171G= (p.Arg2057=) c.6114G= (p.Arg2038=) | |
| 15 | g.88858756G>T | CA393726700 | ACAN | c.6171G>T (p.Arg2057Ser) c.6114G>T (p.Arg2038Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858757C>A | CA393726701 | ACAN | c.6172C>A (p.Pro2058Thr) c.6115C>A (p.Pro2039Thr) | |
| 15 | g.88858757C= | CA2194343507 | ACAN | c.6172C= (p.Pro2058=) c.6115C= (p.Pro2039=) | |
| 15 | g.88858757C>G | CA393726702 | ACAN | c.6172C>G (p.Pro2058Ala) c.6115C>G (p.Pro2039Ala) | |
| 15 | g.88858757C>T | CA393726703 | ACAN | c.6172C>T (p.Pro2058Ser) c.6115C>T (p.Pro2039Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858761del | CA2695221064 | ACAN | c.6176del (p.Pro2059LeufsTer2) c.6119del (p.Pro2040LeufsTer2) | |
| 15 | g.88858758C>A | CA393726704 | ACAN | c.6173C>A (p.Pro2058His) c.6116C>A (p.Pro2039His) | |
| 15 | g.88858758C= | CA2194343508 | ACAN | c.6173C= (p.Pro2058=) c.6116C= (p.Pro2039=) | |
| 15 | g.88858758C>G | CA393726705 | ACAN | c.6173C>G (p.Pro2058Arg) c.6116C>G (p.Pro2039Arg) | |
| 15 | g.88858758C>T | CA7720353 | ACAN | c.6173C>T (p.Pro2058Leu) c.6116C>T (p.Pro2039Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858759C>A | CA492287696 | ACAN | c.6174C>A (p.Pro2058=) c.6117C>A (p.Pro2039=) | |
| 15 | g.88858759C= | CA2194343509 | ACAN | c.6174C= (p.Pro2058=) c.6117C= (p.Pro2039=) | |
| 15 | g.88858759C>G | CA274485476 | ACAN | c.6174C>G (p.Pro2058=) c.6117C>G (p.Pro2039=) | dbSNP |
| 15 | g.88858759C>T | CA274485475 | ACAN | c.6174C>T (p.Pro2058=) c.6117C>T (p.Pro2039=) | dbSNP gnomAD v4 |
| 15 | g.88858760C>A | CA393726708 | ACAN | c.6175C>A (p.Pro2059Thr) c.6118C>A (p.Pro2040Thr) | |
| 15 | g.88858760C>G | CA393726707 | ACAN | c.6175C>G (p.Pro2059Ala) c.6118C>G (p.Pro2040Ala) | |
| 15 | g.88858760C>T | CA393726706 | ACAN | c.6175C>T (p.Pro2059Ser) c.6118C>T (p.Pro2040Ser) | |
| 15 | g.88858761C>A | CA393726709 | ACAN | c.6176C>A (p.Pro2059His) c.6119C>A (p.Pro2040His) | |
| 15 | g.88858761C= | CA2194343510 | ACAN | c.6176C= (p.Pro2059=) c.6119C= (p.Pro2040=) | |
| 15 | g.88858761C>G | CA393726710 | ACAN | c.6176C>G (p.Pro2059Arg) c.6119C>G (p.Pro2040Arg) | |
| 15 | g.88858761C>T | CA7720354 | ACAN | c.6176C>T (p.Pro2059Leu) c.6119C>T (p.Pro2040Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858762T>A | CA492287703 | ACAN | c.6177T>A (p.Pro2059=) c.6120T>A (p.Pro2040=) | gnomAD v4 |
| 15 | g.88858762T>C | CA492287706 | ACAN | c.6177T>C (p.Pro2059=) c.6120T>C (p.Pro2040=) | |
| 15 | g.88858762T>G | CA492287705 | ACAN | c.6177T>G (p.Pro2059=) c.6120T>G (p.Pro2040=) | |
| 15 | g.88858763G>A | CA7720355 | ACAN | c.6178G>A (p.Val2060Met) c.6121G>A (p.Val2041Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858763G>C | CA393726711 | ACAN | c.6178G>C (p.Val2060Leu) c.6121G>C (p.Val2041Leu) | |
| 15 | g.88858763G= | CA2194343511 | ACAN | c.6178G= (p.Val2060=) c.6121G= (p.Val2041=) | |
| 15 | g.88858763G>T | CA393726712 | ACAN | c.6178G>T (p.Val2060Leu) c.6121G>T (p.Val2041Leu) | |
| 15 | g.88858764T>A | CA393726713 | ACAN | c.6179T>A (p.Val2060Glu) c.6122T>A (p.Val2041Glu) | |
| 15 | g.88858764T>C | CA393726714 | ACAN | c.6179T>C (p.Val2060Ala) c.6122T>C (p.Val2041Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858764T>G | CA393726715 | ACAN | c.6179T>G (p.Val2060Gly) c.6122T>G (p.Val2041Gly) | gnomAD v4 |
| 15 | g.88858764T= | CA2194343512 | ACAN | c.6179T= (p.Val2060=) c.6122T= (p.Val2041=) | |
| 15 | g.88858765G>A | CA7720356 | ACAN | c.6180G>A (p.Val2060=) c.6123G>A (p.Val2041=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858765G>C | CA492287715 | ACAN | c.6180G>C (p.Val2060=) c.6123G>C (p.Val2041=) | |
| 15 | g.88858765G= | CA2194343514 | ACAN | c.6180G= (p.Val2060=) c.6123G= (p.Val2041=) | |
| 15 | g.88858765G>T | CA492287717 | ACAN | c.6180G>T (p.Val2060=) c.6123G>T (p.Val2041=) | |
| 15 | g.88858765_88858767delinsGAC | CA2194343513 | ACAN | c.6180_6182delinsGAC (p.Val2060=) c.6123_6125delinsGAC (p.Val2041=) | |
| 15 | g.88858766A>C | CA393726718 | ACAN | c.6181A>C (p.Thr2061Pro) c.6124A>C (p.Thr2042Pro) | |
| 15 | g.88858766A>G | CA393726717 | ACAN | c.6181A>G (p.Thr2061Ala) c.6124A>G (p.Thr2042Ala) | |
| 15 | g.88858766A>T | CA393726716 | ACAN | c.6181A>T (p.Thr2061Ser) c.6124A>T (p.Thr2042Ser) | |
| 15 | g.88858774_88858775dup | CA2630219522 | ACAN | c.6189_6190dup (p.Pro2064HisfsTer29) c.6132_6133dup (p.Pro2045HisfsTer29) | gnomAD v4 |
| 15 | g.88858774_88858775del | CA7720357 | ACAN | c.6189_6190del (p.Gln2065AlafsTer3) c.6132_6133del (p.Gln2046AlafsTer3) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 15 | g.88858767C>A | CA393726719 | ACAN | c.6182C>A (p.Thr2061Lys) c.6125C>A (p.Thr2042Lys) | |
| 15 | g.88858767C= | CA2194343515 | ACAN | c.6182C= (p.Thr2061=) c.6125C= (p.Thr2042=) | |
| 15 | g.88858767C>G | CA393726720 | ACAN | c.6182C>G (p.Thr2061Arg) c.6125C>G (p.Thr2042Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858767C>T | CA393726721 | ACAN | c.6182C>T (p.Thr2061Ile) c.6125C>T (p.Thr2042Ile) | dbSNP gnomAD v4 |
| 15 | g.88858768A>C | CA492287718 | ACAN | c.6183A>C (p.Thr2061=) c.6126A>C (p.Thr2042=) | |
| 15 | g.88858768A>G | CA492287719 | ACAN | c.6183A>G (p.Thr2061=) c.6126A>G (p.Thr2042=) | gnomAD v4 |
| 15 | g.88858768A>T | CA492287720 | ACAN | c.6183A>T (p.Thr2061=) c.6126A>T (p.Thr2042=) | |
| 15 | g.88858769C>A | CA393726722 | ACAN | c.6184C>A (p.His2062Asn) c.6127C>A (p.His2043Asn) | dbSNP gnomAD v4 |
| 15 | g.88858769C= | CA2194343516 | ACAN | c.6184C= (p.His2062=) c.6127C= (p.His2043=) | |
| 15 | g.88858769C>G | CA393726723 | ACAN | c.6184C>G (p.His2062Asp) c.6127C>G (p.His2043Asp) | |
| 15 | g.88858769C>T | CA393726724 | ACAN | c.6184C>T (p.His2062Tyr) c.6127C>T (p.His2043Tyr) | |
| 15 | g.88858770A>C | CA393726725 | ACAN | c.6185A>C (p.His2062Pro) c.6128A>C (p.His2043Pro) | |
| 15 | g.88858770A>G | CA393726726 | ACAN | c.6185A>G (p.His2062Arg) c.6128A>G (p.His2043Arg) | |
| 15 | g.88858770A>T | CA393726727 | ACAN | c.6185A>T (p.His2062Leu) c.6128A>T (p.His2043Leu) | |
| 15 | g.88858771C>A | CA393726728 | ACAN | c.6186C>A (p.His2062Gln) c.6129C>A (p.His2043Gln) | |
| 15 | g.88858771C= | CA2194343517 | ACAN | c.6186C= (p.His2062=) c.6129C= (p.His2043=) | |
| 15 | g.88858771C>G | CA393726729 | ACAN | c.6186C>G (p.His2062Gln) c.6129C>G (p.His2043Gln) | |
| 15 | g.88858771C>T | CA492287728 | ACAN | c.6186C>T (p.His2062=) c.6129C>T (p.His2043=) | dbSNP |
| 15 | g.88858772A>C | CA393726730 | ACAN | c.6187A>C (p.Thr2063Pro) c.6130A>C (p.Thr2044Pro) | |
| 15 | g.88858772A>G | CA393726731 | ACAN | c.6187A>G (p.Thr2063Ala) c.6130A>G (p.Thr2044Ala) | |
| 15 | g.88858772A>T | CA393726732 | ACAN | c.6187A>T (p.Thr2063Ser) c.6130A>T (p.Thr2044Ser) | |
| 15 | g.88858773C>A | CA393726735 | ACAN | c.6188C>A (p.Thr2063Lys) c.6131C>A (p.Thr2044Lys) | |
| 15 | g.88858773C= | CA2194343518 | ACAN | c.6188C= (p.Thr2063=) c.6131C= (p.Thr2044=) | |
| 15 | g.88858773C>G | CA393726733 | ACAN | c.6188C>G (p.Thr2063Arg) c.6131C>G (p.Thr2044Arg) | |
| 15 | g.88858773C>T | CA393726734 | ACAN | c.6188C>T (p.Thr2063Ile) c.6131C>T (p.Thr2044Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858774A>C | CA492287734 | ACAN | c.6189A>C (p.Thr2063=) c.6132A>C (p.Thr2044=) | gnomAD v4 |
| 15 | g.88858774A>G | CA492287732 | ACAN | c.6189A>G (p.Thr2063=) c.6132A>G (p.Thr2044=) | gnomAD v4 |
| 15 | g.88858774A>T | CA492287733 | ACAN | c.6189A>T (p.Thr2063=) c.6132A>T (p.Thr2044=) | |
| 15 | g.88858775C>A | CA393726736 | ACAN | c.6190C>A (p.Pro2064Thr) c.6133C>A (p.Pro2045Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858775C= | CA2194343519 | ACAN | c.6190C= (p.Pro2064=) c.6133C= (p.Pro2045=) | |
| 15 | g.88858775C>G | CA393726737 | ACAN | c.6190C>G (p.Pro2064Ala) c.6133C>G (p.Pro2045Ala) | |
| 15 | g.88858775C>T | CA393726738 | ACAN | c.6190C>T (p.Pro2064Ser) c.6133C>T (p.Pro2045Ser) | dbSNP |
| 15 | g.88858776C>A | CA393726739 | ACAN | c.6191C>A (p.Pro2064His) c.6134C>A (p.Pro2045His) | |
| 15 | g.88858776C>G | CA393726740 | ACAN | c.6191C>G (p.Pro2064Arg) c.6134C>G (p.Pro2045Arg) | |
| 15 | g.88858776C>T | CA393726741 | ACAN | c.6191C>T (p.Pro2064Leu) c.6134C>T (p.Pro2045Leu) | |
| 15 | g.88858777C>A | CA492287737 | ACAN | c.6192C>A (p.Pro2064=) c.6135C>A (p.Pro2045=) | dbSNP |
| 15 | g.88858777C= | CA2194343520 | ACAN | c.6192C= (p.Pro2064=) c.6135C= (p.Pro2045=) | |
| 15 | g.88858777C>G | CA492287738 | ACAN | c.6192C>G (p.Pro2064=) c.6135C>G (p.Pro2045=) | |
| 15 | g.88858777C>T | CA492287741 | ACAN | c.6192C>T (p.Pro2064=) c.6135C>T (p.Pro2045=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858778C>A | CA393726742 | ACAN | c.6193C>A (p.Gln2065Lys) c.6136C>A (p.Gln2046Lys) | dbSNP |
| 15 | g.88858778C>G | CA393726743 | ACAN | c.6193C>G (p.Gln2065Glu) c.6136C>G (p.Gln2046Glu) | |
| 15 | g.88858778C>T | CA393726744 | ACAN | c.6193C>T (p.Gln2065Ter) c.6136C>T (p.Gln2046Ter) | |
| 15 | g.88858779A>C | CA393726745 | ACAN | c.6194A>C (p.Gln2065Pro) c.6137A>C (p.Gln2046Pro) | |
| 15 | g.88858779A>G | CA393726746 | ACAN | c.6194A>G (p.Gln2065Arg) c.6137A>G (p.Gln2046Arg) | |
| 15 | g.88858779A>T | CA393726747 | ACAN | c.6194A>T (p.Gln2065Leu) c.6137A>T (p.Gln2046Leu) | gnomAD v4 |
| 15 | g.88858780G>A | CA492287744 | ACAN | c.6195G>A (p.Gln2065=) c.6138G>A (p.Gln2046=) | |
| 15 | g.88858780G>C | CA393726748 | ACAN | c.6195G>C (p.Gln2065His) c.6138G>C (p.Gln2046His) | |
| 15 | g.88858780G>T | CA393726749 | ACAN | c.6195G>T (p.Gln2065His) c.6138G>T (p.Gln2046His) | |
| 15 | g.88858781C>A | CA393726750 | ACAN | c.6196C>A (p.Leu2066Ile) c.6139C>A (p.Leu2047Ile) | gnomAD v4 |
| 15 | g.88858781C= | CA2194343522 | ACAN | c.6196C= (p.Leu2066=) c.6139C= (p.Leu2047=) | |
| 15 | g.88858781C>G | CA7720358 | ACAN | c.6196C>G (p.Leu2066Val) c.6139C>G (p.Leu2047Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858781C>T | CA393726751 | ACAN | c.6196C>T (p.Leu2066Phe) c.6139C>T (p.Leu2047Phe) | |
| 15 | g.88858781_88858782delinsCT | CA2194343521 | ACAN | c.6196_6197delinsCT (p.Leu2066=) c.6139_6140delinsCT (p.Leu2047=) | |
| 15 | g.88858782T>A | CA393726752 | ACAN | c.6197T>A (p.Leu2066His) c.6140T>A (p.Leu2047His) | |
| 15 | g.88858782T>C | CA393726753 | ACAN | c.6197T>C (p.Leu2066Pro) c.6140T>C (p.Leu2047Pro) | |
| 15 | g.88858782T>G | CA393726754 | ACAN | c.6197T>G (p.Leu2066Arg) c.6140T>G (p.Leu2047Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858782T= | CA2194343523 | ACAN | c.6197T= (p.Leu2066=) c.6140T= (p.Leu2047=) | |
| 15 | g.88858786del | CA919613072 | ACAN | c.6201del (p.Phe2067LeufsTer25) c.6144del (p.Phe2048LeufsTer25) | dbSNP |
| 15 | g.88858783T>A | CA492287753 | ACAN | c.6198T>A (p.Leu2066=) c.6141T>A (p.Leu2047=) | |
| 15 | g.88858783T>C | CA492287754 | ACAN | c.6198T>C (p.Leu2066=) c.6141T>C (p.Leu2047=) | |
| 15 | g.88858783T>G | CA492287755 | ACAN | c.6198T>G (p.Leu2066=) c.6141T>G (p.Leu2047=) | |
| 15 | g.88858784T>A | CA393726755 | ACAN | c.6199T>A (p.Phe2067Ile) c.6142T>A (p.Phe2048Ile) | |
| 15 | g.88858784T>C | CA393726756 | ACAN | c.6199T>C (p.Phe2067Leu) c.6142T>C (p.Phe2048Leu) | |
| 15 | g.88858784T>G | CA393726757 | ACAN | c.6199T>G (p.Phe2067Val) c.6142T>G (p.Phe2048Val) | |
| 15 | g.88858785T>A | CA393726758 | ACAN | c.6200T>A (p.Phe2067Tyr) c.6143T>A (p.Phe2048Tyr) | |
| 15 | g.88858785T>C | CA393726759 | ACAN | c.6200T>C (p.Phe2067Ser) c.6143T>C (p.Phe2048Ser) | gnomAD v4 |
| 15 | g.88858785T>G | CA393726760 | ACAN | c.6200T>G (p.Phe2067Cys) c.6143T>G (p.Phe2048Cys) | |
| 15 | g.88858786T>A | CA393726761 | ACAN | c.6201T>A (p.Phe2067Leu) c.6144T>A (p.Phe2048Leu) | |
| 15 | g.88858786T>C | CA492287761 | ACAN | c.6201T>C (p.Phe2067=) c.6144T>C (p.Phe2048=) | |
| 15 | g.88858786T>G | CA393726762 | ACAN | c.6201T>G (p.Phe2067Leu) c.6144T>G (p.Phe2048Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858786T= | CA2194343524 | ACAN | c.6201T= (p.Phe2067=) c.6144T= (p.Phe2048=) | |
| 15 | g.88858787G>A | CA393726765 | ACAN | c.6202G>A (p.Glu2068Lys) c.6145G>A (p.Glu2049Lys) | |
| 15 | g.88858787G>C | CA393726763 | ACAN | c.6202G>C (p.Glu2068Gln) c.6145G>C (p.Glu2049Gln) | COSMIC COSMIC |
| 15 | g.88858787G>T | CA393726764 | ACAN | c.6202G>T (p.Glu2068Ter) c.6145G>T (p.Glu2049Ter) | |
| 15 | g.88858788A= | CA2194343525 | ACAN | c.6203A= (p.Glu2068=) c.6146A= (p.Glu2049=) | |
| 15 | g.88858788A>C | CA393726766 | ACAN | c.6203A>C (p.Glu2068Ala) c.6146A>C (p.Glu2049Ala) | |
| 15 | g.88858788A>G | CA393726767 | ACAN | c.6203A>G (p.Glu2068Gly) c.6146A>G (p.Glu2049Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.88858788A>T | CA393726768 | ACAN | c.6203A>T (p.Glu2068Val) c.6146A>T (p.Glu2049Val) | |
| 15 | g.88858789G>A | CA492287766 | ACAN | c.6204G>A (p.Glu2068=) c.6147G>A (p.Glu2049=) | gnomAD v4 |
| 15 | g.88858789G>C | CA393726769 | ACAN | c.6204G>C (p.Glu2068Asp) c.6147G>C (p.Glu2049Asp) | |
| 15 | g.88858789G>T | CA393726770 | ACAN | c.6204G>T (p.Glu2068Asp) c.6147G>T (p.Glu2049Asp) | |
| 15 | g.88858790T>A | CA393726771 | ACAN | c.6205T>A (p.Ser2069Thr) c.6148T>A (p.Ser2050Thr) | |
| 15 | g.88858790T>C | CA393726772 | ACAN | c.6205T>C (p.Ser2069Pro) c.6148T>C (p.Ser2050Pro) | |
| 15 | g.88858790T>G | CA393726773 | ACAN | c.6205T>G (p.Ser2069Ala) c.6148T>G (p.Ser2050Ala) | |
| 15 | g.88858791C>A | CA393726774 | ACAN | c.6206C>A (p.Ser2069Tyr) c.6149C>A (p.Ser2050Tyr) | gnomAD v4 |
| 15 | g.88858791C>G | CA393726775 | ACAN | c.6206C>G (p.Ser2069Cys) c.6149C>G (p.Ser2050Cys) | |
| 15 | g.88858791C>T | CA393726776 | ACAN | c.6206C>T (p.Ser2069Phe) c.6149C>T (p.Ser2050Phe) | |
| 15 | g.88858792C>A | CA492287771 | ACAN | c.6207C>A (p.Ser2069=) c.6150C>A (p.Ser2050=) | |
| 15 | g.88858792C>G | CA492287772 | ACAN | c.6207C>G (p.Ser2069=) c.6150C>G (p.Ser2050=) | |
| 15 | g.88858792C>T | CA492287773 | ACAN | c.6207C>T (p.Ser2069=) c.6150C>T (p.Ser2050=) | |
| 15 | g.88858793A= | CA2194343526 | ACAN | c.6208A= (p.Ser2070=) c.6151A= (p.Ser2051=) | |
| 15 | g.88858793A>C | CA7720359 | ACAN | c.6208A>C (p.Ser2070Arg) c.6151A>C (p.Ser2051Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858793A>G | CA393726778 | ACAN | c.6208A>G (p.Ser2070Gly) c.6151A>G (p.Ser2051Gly) | |
| 15 | g.88858793A>T | CA393726777 | ACAN | c.6208A>T (p.Ser2070Cys) c.6151A>T (p.Ser2051Cys) | |
| 15 | g.88858794G>A | CA7720361 | ACAN | c.6209G>A (p.Ser2070Asn) c.6152G>A (p.Ser2051Asn) | dbSNP ExAC |
| 15 | g.88858794G>C | CA393726779 | ACAN | c.6209G>C (p.Ser2070Thr) c.6152G>C (p.Ser2051Thr) | |
| 15 | g.88858794G= | CA2194343527 | ACAN | c.6209G= (p.Ser2070=) c.6152G= (p.Ser2051=) | |
| 15 | g.88858794G>T | CA7720360 | ACAN | c.6209G>T (p.Ser2070Ile) c.6152G>T (p.Ser2051Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858795T>A | CA393726780 | ACAN | c.6210T>A (p.Ser2070Arg) c.6153T>A (p.Ser2051Arg) | |
| 15 | g.88858795T>C | CA7720362 | ACAN | c.6210T>C (p.Ser2070=) c.6153T>C (p.Ser2051=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858795T>G | CA393726781 | ACAN | c.6210T>G (p.Ser2070Arg) c.6153T>G (p.Ser2051Arg) | |
| 15 | g.88858795T= | CA2194343528 | ACAN | c.6210T= (p.Ser2070=) c.6153T= (p.Ser2051=) | |
| 15 | g.88858796G>A | CA393726782 | ACAN | c.6211G>A (p.Gly2071Arg) c.6154G>A (p.Gly2052Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858796G>C | CA393726783 | ACAN | c.6211G>C (p.Gly2071Arg) c.6154G>C (p.Gly2052Arg) | |
| 15 | g.88858796G= | CA2194343529 | ACAN | c.6211G= (p.Gly2071=) c.6154G= (p.Gly2052=) | |
| 15 | g.88858796G>T | CA393726784 | ACAN | c.6211G>T (p.Gly2071Ter) c.6154G>T (p.Gly2052Ter) | |
| 15 | g.88858797G>A | CA393726785 | ACAN | c.6212G>A (p.Gly2071Glu) c.6155G>A (p.Gly2052Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858797G>C | CA393726786 | ACAN | c.6212G>C (p.Gly2071Ala) c.6155G>C (p.Gly2052Ala) | |
| 15 | g.88858797G= | CA2194343530 | ACAN | c.6212G= (p.Gly2071=) c.6155G= (p.Gly2052=) | |
| 15 | g.88858797G>T | CA393726787 | ACAN | c.6212G>T (p.Gly2071Val) c.6155G>T (p.Gly2052Val) | |
| 15 | g.88858798A= | CA2194343531 | ACAN | c.6213A= (p.Gly2071=) c.6156A= (p.Gly2052=) | |
| 15 | g.88858798A>C | CA492287774 | ACAN | c.6213A>C (p.Gly2071=) c.6156A>C (p.Gly2052=) | |
| 15 | g.88858798A>G | CA492287776 | ACAN | c.6213A>G (p.Gly2071=) c.6156A>G (p.Gly2052=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858798A>T | CA492287778 | ACAN | c.6213A>T (p.Gly2071=) c.6156A>T (p.Gly2052=) | |
| 15 | g.88858801del | CA2630219523 | ACAN | c.6216del (p.Val2073SerfsTer19) c.6159del (p.Val2054SerfsTer19) | gnomAD v4 |
| 15 | g.88858799A= | CA2194343532 | ACAN | c.6214A= (p.Lys2072=) c.6157A= (p.Lys2053=) | |
| 15 | g.88858799A>C | CA393726789 | ACAN | c.6214A>C (p.Lys2072Gln) c.6157A>C (p.Lys2053Gln) | |
| 15 | g.88858799A>G | CA7720363 | ACAN | c.6214A>G (p.Lys2072Glu) c.6157A>G (p.Lys2053Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858799A>T | CA393726788 | ACAN | c.6214A>T (p.Lys2072Ter) c.6157A>T (p.Lys2053Ter) | |
| 15 | g.88858800A>C | CA393726790 | ACAN | c.6215A>C (p.Lys2072Thr) c.6158A>C (p.Lys2053Thr) | |
| 15 | g.88858800A>G | CA393726791 | ACAN | c.6215A>G (p.Lys2072Arg) c.6158A>G (p.Lys2053Arg) | COSMIC COSMIC |
| 15 | g.88858800A>T | CA393726792 | ACAN | c.6215A>T (p.Lys2072Ile) c.6158A>T (p.Lys2053Ile) | |
| 15 | g.88858801A>C | CA393726793 | ACAN | c.6216A>C (p.Lys2072Asn) c.6159A>C (p.Lys2053Asn) | |
| 15 | g.88858801A>G | CA492287782 | ACAN | c.6216A>G (p.Lys2072=) c.6159A>G (p.Lys2053=) | |
| 15 | g.88858801A>T | CA393726794 | ACAN | c.6216A>T (p.Lys2072Asn) c.6159A>T (p.Lys2053Asn) | dbSNP |
| 15 | g.88858802G>A | CA393726796 | ACAN | c.6217G>A (p.Val2073Ile) c.6160G>A (p.Val2054Ile) | |
| 15 | g.88858802G>C | CA393726795 | ACAN | c.6217G>C (p.Val2073Leu) c.6160G>C (p.Val2054Leu) | |
| 15 | g.88858802G= | CA2194343533 | ACAN | c.6217G= (p.Val2073=) c.6160G= (p.Val2054=) | |
| 15 | g.88858802G>T | CA7720364 | ACAN | c.6217G>T (p.Val2073Phe) c.6160G>T (p.Val2054Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.88858803T>A | CA393726797 | ACAN | c.6218T>A (p.Val2073Asp) c.6161T>A (p.Val2054Asp) | dbSNP gnomAD v4 |
| 15 | g.88858803T>C | CA393726798 | ACAN | c.6218T>C (p.Val2073Ala) c.6161T>C (p.Val2054Ala) | |
| 15 | g.88858803T>G | CA393726799 | ACAN | c.6218T>G (p.Val2073Gly) c.6161T>G (p.Val2054Gly) | |
| 15 | g.88858804C>A | CA492287790 | ACAN | c.6219C>A (p.Val2073=) c.6162C>A (p.Val2054=) | gnomAD v4 COSMIC COSMIC |
| 15 | g.88858804C= | CA2194343534 | ACAN | c.6219C= (p.Val2073=) c.6162C= (p.Val2054=) | |
| 15 | g.88858804C>G | CA492287791 | ACAN | c.6219C>G (p.Val2073=) c.6162C>G (p.Val2054=) | |
| 15 | g.88858804C>T | CA492287789 | ACAN | c.6219C>T (p.Val2073=) c.6162C>T (p.Val2054=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.88858805T>A | CA393726800 | ACAN | c.6220T>A (p.Ser2074Thr) c.6163T>A (p.Ser2055Thr) | |
| 15 | g.88858805T>C | CA393726801 | ACAN | c.6220T>C (p.Ser2074Pro) c.6163T>C (p.Ser2055Pro) | |
| 15 | g.88858805T>G | CA393726802 | ACAN | c.6220T>G (p.Ser2074Ala) c.6163T>G (p.Ser2055Ala) | gnomAD v4 |
| 15 | g.88858805T= | CA2194343535 | ACAN | c.6220T= (p.Ser2074=) c.6163T= (p.Ser2055=) | |
| 15 | g.88858806C>A | CA393726804 | ACAN | c.6221C>A (p.Ser2074Tyr) c.6164C>A (p.Ser2055Tyr) | |
| 15 | g.88858806C>G | CA393726805 | ACAN | c.6221C>G (p.Ser2074Cys) c.6164C>G (p.Ser2055Cys) | |
| 15 | g.88858806C>T | CA393726803 | ACAN | c.6221C>T (p.Ser2074Phe) c.6164C>T (p.Ser2055Phe) | gnomAD v4 |
| 15 | g.88858807dup | CA2194343536 | ACAN | c.6222dup (p.Thr2075HisfsTer6) c.6165dup (p.Thr2056HisfsTer6) | dbSNP |
| 15 | g.88858807C>A | CA492287796 | ACAN | c.6222C>A (p.Ser2074=) c.6165C>A (p.Ser2055=) | |
| 15 | g.88858807C>G | CA492287798 | ACAN | c.6222C>G (p.Ser2074=) c.6165C>G (p.Ser2055=) | |
| 15 | g.88858807C>T | CA492287800 | ACAN | c.6222C>T (p.Ser2074=) c.6165C>T (p.Ser2055=) | gnomAD v4 |
| 15 | g.88858808A= | CA2194343537 | ACAN | c.6223A= (p.Thr2075=) c.6166A= (p.Thr2056=) | |
| 15 | g.88858808A>C | CA393726808 | ACAN | c.6223A>C (p.Thr2075Pro) c.6166A>C (p.Thr2056Pro) | |
| 15 | g.88858808A>G | CA393726806 | ACAN | c.6223A>G (p.Thr2075Ala) c.6166A>G (p.Thr2056Ala) | dbSNP |
| 15 | g.88858808A>T | CA393726807 | ACAN | c.6223A>T (p.Thr2075Ser) c.6166A>T (p.Thr2056Ser) | |
| 15 | g.88858809C>A | CA393726809 | ACAN | c.6224C>A (p.Thr2075Lys) c.6167C>A (p.Thr2056Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858809C= | CA2194343538 | ACAN | c.6224C= (p.Thr2075=) c.6167C= (p.Thr2056=) | |
| 15 | g.88858809C>G | CA393726810 | ACAN | c.6224C>G (p.Thr2075Arg) c.6167C>G (p.Thr2056Arg) | gnomAD v4 |
| 15 | g.88858809C>T | CA393726811 | ACAN | c.6224C>T (p.Thr2075Ile) c.6167C>T (p.Thr2056Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858810A>C | CA492287805 | ACAN | c.6225A>C (p.Thr2075=) c.6168A>C (p.Thr2056=) | |
| 15 | g.88858810A>G | CA492287804 | ACAN | c.6225A>G (p.Thr2075=) c.6168A>G (p.Thr2056=) | gnomAD v4 |
| 15 | g.88858810A>T | CA492287803 | ACAN | c.6225A>T (p.Thr2075=) c.6168A>T (p.Thr2056=) | |
| 15 | g.88858811G>A | CA393726814 | ACAN | c.6226G>A (p.Ala2076Thr) c.6169G>A (p.Ala2057Thr) | |
| 15 | g.88858811G>C | CA393726813 | ACAN | c.6226G>C (p.Ala2076Pro) c.6169G>C (p.Ala2057Pro) | gnomAD v4 |
| 15 | g.88858811G>T | CA393726812 | ACAN | c.6226G>T (p.Ala2076Ser) c.6169G>T (p.Ala2057Ser) | |
| 15 | g.88858812C>A | CA393726815 | ACAN | c.6227C>A (p.Ala2076Asp) c.6170C>A (p.Ala2057Asp) | gnomAD v4 |
| 15 | g.88858812C>G | CA393726816 | ACAN | c.6227C>G (p.Ala2076Gly) c.6170C>G (p.Ala2057Gly) | |
| 15 | g.88858812C>T | CA393726817 | ACAN | c.6227C>T (p.Ala2076Val) c.6170C>T (p.Ala2057Val) | |
| 15 | g.88858813T>A | CA492287810 | ACAN | c.6228T>A (p.Ala2076=) c.6171T>A (p.Ala2057=) | |
| 15 | g.88858813T>C | CA492287811 | ACAN | c.6228T>C (p.Ala2076=) c.6171T>C (p.Ala2057=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858813T>G | CA492287812 | ACAN | c.6228T>G (p.Ala2076=) c.6171T>G (p.Ala2057=) | |
| 15 | g.88858813T= | CA2194343539 | ACAN | c.6228T= (p.Ala2076=) c.6171T= (p.Ala2057=) | |
| 15 | g.88858814G>A | CA393726818 | ACAN | c.6229G>A (p.Gly2077Arg) c.6172G>A (p.Gly2058Arg) | |
| 15 | g.88858814G>C | CA393726819 | ACAN | c.6229G>C (p.Gly2077Arg) c.6172G>C (p.Gly2058Arg) | |
| 15 | g.88858814G>T | CA393726820 | ACAN | c.6229G>T (p.Gly2077Trp) c.6172G>T (p.Gly2058Trp) | |
| 15 | g.88858817del | CA2695197216 | ACAN | c.6232del (p.Asp2078ThrfsTer14) c.6175del (p.Asp2059ThrfsTer14) | ClinVar |
| 15 | g.88858815G>A | CA393726823 | ACAN | c.6230G>A (p.Gly2077Glu) c.6173G>A (p.Gly2058Glu) | gnomAD v4 |
| 15 | g.88858815G>C | CA393726821 | ACAN | c.6230G>C (p.Gly2077Ala) c.6173G>C (p.Gly2058Ala) | dbSNP gnomAD v4 |
| 15 | g.88858815G= | CA2194343540 | ACAN | c.6230G= (p.Gly2077=) c.6173G= (p.Gly2058=) | |
| 15 | g.88858815G>T | CA393726822 | ACAN | c.6230G>T (p.Gly2077Val) c.6173G>T (p.Gly2058Val) | |
| 15 | g.88858816G>A | CA492287816 | ACAN | c.6231G>A (p.Gly2077=) c.6174G>A (p.Gly2058=) | COSMIC COSMIC |
| 15 | g.88858816G>C | CA492287818 | ACAN | c.6231G>C (p.Gly2077=) c.6174G>C (p.Gly2058=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.88858816G= | CA2194343541 | ACAN | c.6231G= (p.Gly2077=) c.6174G= (p.Gly2058=) | |
| 15 | g.88858816G>T | CA492287819 | ACAN | c.6231G>T (p.Gly2077=) c.6174G>T (p.Gly2058=) | |
| 15 | g.88858817G>A | CA393726824 | ACAN | c.6232G>A (p.Asp2078Asn) c.6175G>A (p.Asp2059Asn) | |
| 15 | g.88858817G>C | CA393726825 | ACAN | c.6232G>C (p.Asp2078His) c.6175G>C (p.Asp2059His) | |
| 15 | g.88858817G= | CA2194343542 | ACAN | c.6232G= (p.Asp2078=) c.6175G= (p.Asp2059=) | |
| 15 | g.88858817G>T | CA7720365 | ACAN | c.6232G>T (p.Asp2078Tyr) c.6175G>T (p.Asp2059Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858818A= | CA2194343543 | ACAN | c.6233A= (p.Asp2078=) c.6176A= (p.Asp2059=) | |
| 15 | g.88858818A>C | CA393726826 | ACAN | c.6233A>C (p.Asp2078Ala) c.6176A>C (p.Asp2059Ala) | |
| 15 | g.88858818A>G | CA393726827 | ACAN | c.6233A>G (p.Asp2078Gly) c.6176A>G (p.Asp2059Gly) | gnomAD v4 COSMIC COSMIC |
| 15 | g.88858818A>T | CA393726828 | ACAN | c.6233A>T (p.Asp2078Val) c.6176A>T (p.Asp2059Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858819C>A | CA393726829 | ACAN | c.6234C>A (p.Asp2078Glu) c.6177C>A (p.Asp2059Glu) | |
| 15 | g.88858819C= | CA2194343544 | ACAN | c.6234C= (p.Asp2078=) c.6177C= (p.Asp2059=) | |
| 15 | g.88858819C>G | CA393726830 | ACAN | c.6234C>G (p.Asp2078Glu) c.6177C>G (p.Asp2059Glu) | |
| 15 | g.88858819C>T | CA7720366 | ACAN | c.6234C>T (p.Asp2078=) c.6177C>T (p.Asp2059=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858820A= | CA2194343545 | ACAN | c.6235A= (p.Ile2079=) c.6178A= (p.Ile2060=) | |
| 15 | g.88858820A>C | CA274485554 | ACAN | c.6235A>C (p.Ile2079Leu) c.6178A>C (p.Ile2060Leu) | dbSNP |
| 15 | g.88858820A>G | CA7720367 | ACAN | c.6235A>G (p.Ile2079Val) c.6178A>G (p.Ile2060Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858820A>T | CA393726831 | ACAN | c.6235A>T (p.Ile2079Phe) c.6178A>T (p.Ile2060Phe) | |
| 15 | g.88858820_88858821insGTGGAGCTACCCCAGTGCTCCCAAACGTCTCCACAGCTGGGGACG | CA972542088 | ACAN | c.6235_6236insGTGGAGCTACCCCAGTGCTCCCAAACGTCTCCACAGCTGGGGACG (p.Ile2079delinsSerGlyAlaThrProValLeuProAsnValSerThrAlaGlyAspVal) c.6178_6179insGTGGAGCTACCCCAGTGCTCCCAAACGTCTCCACAGCTGGGGACG (p.Ile2060delinsSerGlyAlaThrProValLeuProAsnValSerThrAlaGlyAspVal) | gnomAD v3 gnomAD v4 |
| 15 | g.88858821T>A | CA393726832 | ACAN | c.6236T>A (p.Ile2079Asn) c.6179T>A (p.Ile2060Asn) | |
| 15 | g.88858821T>C | CA393726834 | ACAN | c.6236T>C (p.Ile2079Thr) c.6179T>C (p.Ile2060Thr) | |
| 15 | g.88858821T>G | CA393726833 | ACAN | c.6236T>G (p.Ile2079Ser) c.6179T>G (p.Ile2060Ser) | |
| 15 | g.88858822T>A | CA492287831 | ACAN | c.6237T>A (p.Ile2079=) c.6180T>A (p.Ile2060=) | |
| 15 | g.88858822T>C | CA492287832 | ACAN | c.6237T>C (p.Ile2079=) c.6180T>C (p.Ile2060=) | |
| 15 | g.88858822T>G | CA393726835 | ACAN | c.6237T>G (p.Ile2079Met) c.6180T>G (p.Ile2060Met) | |
| 15 | g.88858823A>C | CA393726836 | ACAN | c.6238A>C (p.Ser2080Arg) c.6181A>C (p.Ser2061Arg) | gnomAD v4 |
| 15 | g.88858823A>G | CA393726837 | ACAN | c.6238A>G (p.Ser2080Gly) c.6181A>G (p.Ser2061Gly) | |
| 15 | g.88858823A>T | CA393726838 | ACAN | c.6238A>T (p.Ser2080Cys) c.6181A>T (p.Ser2061Cys) | |
| 15 | g.88858824G>A | CA393726839 | ACAN | c.6239G>A (p.Ser2080Asn) c.6182G>A (p.Ser2061Asn) | |
| 15 | g.88858824G>C | CA393726840 | ACAN | c.6239G>C (p.Ser2080Thr) c.6182G>C (p.Ser2061Thr) | |
| 15 | g.88858824G>T | CA393726841 | ACAN | c.6239G>T (p.Ser2080Ile) c.6182G>T (p.Ser2061Ile) | |
| 15 | g.88858825T>A | CA393726842 | ACAN | c.6240T>A (p.Ser2080Arg) c.6183T>A (p.Ser2061Arg) | |
| 15 | g.88858825T>C | CA492287836 | ACAN | c.6240T>C (p.Ser2080=) c.6183T>C (p.Ser2061=) | |
| 15 | g.88858825T>G | CA393726843 | ACAN | c.6240T>G (p.Ser2080Arg) c.6183T>G (p.Ser2061Arg) | |
| 15 | g.88858826G>A | CA393726844 | ACAN | c.6241G>A (p.Gly2081Arg) c.6184G>A (p.Gly2062Arg) | |
| 15 | g.88858826G>C | CA393726845 | ACAN | c.6241G>C (p.Gly2081Arg) c.6184G>C (p.Gly2062Arg) | |
| 15 | g.88858826G>T | CA393726846 | ACAN | c.6241G>T (p.Gly2081Ter) c.6184G>T (p.Gly2062Ter) | |
| 15 | g.88858827G>A | CA393726848 | ACAN | c.6242G>A (p.Gly2081Glu) c.6185G>A (p.Gly2062Glu) | |
| 15 | g.88858827G>C | CA7720368 | ACAN | c.6242G>C (p.Gly2081Ala) c.6185G>C (p.Gly2062Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88858827G= | CA2194343546 | ACAN | c.6242G= (p.Gly2081=) c.6185G= (p.Gly2062=) | |
| 15 | g.88858827G>T | CA393726847 | ACAN | c.6242G>T (p.Gly2081Val) c.6185G>T (p.Gly2062Val) | |
| 15 | g.88858828A>C | CA492287842 | ACAN | c.6243A>C (p.Gly2081=) c.6186A>C (p.Gly2062=) | |
| 15 | g.88858828A>G | CA492287843 | ACAN | c.6243A>G (p.Gly2081=) c.6186A>G (p.Gly2062=) | |
| 15 | g.88858828A>T | CA492287844 | ACAN | c.6243A>T (p.Gly2081=) c.6186A>T (p.Gly2062=) | |
| 15 | g.88858829G>A | CA393726849 | ACAN | c.6244G>A (p.Ala2082Thr) c.6187G>A (p.Ala2063Thr) | |
| 15 | g.88858829G>C | CA393726850 | ACAN | c.6244G>C (p.Ala2082Pro) c.6187G>C (p.Ala2063Pro) | |
| 15 | g.88858829G>T | CA393726851 | ACAN | c.6244G>T (p.Ala2082Ser) c.6187G>T (p.Ala2063Ser) | |
| 15 | g.88858830C>A | CA393726852 | ACAN | c.6245C>A (p.Ala2082Asp) c.6188C>A (p.Ala2063Asp) | |
| 15 | g.88858830C>G | CA393726853 | ACAN | c.6245C>G (p.Ala2082Gly) c.6188C>G (p.Ala2063Gly) | |
| 15 | g.88858830C>T | CA393726854 | ACAN | c.6245C>T (p.Ala2082Val) c.6188C>T (p.Ala2063Val) | gnomAD v4 |
| 15 | g.88858831T>A | CA492287853 | ACAN | c.6246T>A (p.Ala2082=) c.6189T>A (p.Ala2063=) | |
| 15 | g.88858831T>C | CA492287854 | ACAN | c.6246T>C (p.Ala2082=) c.6189T>C (p.Ala2063=) | |
| 15 | g.88858831T>G | CA492287855 | ACAN | c.6246T>G (p.Ala2082=) c.6189T>G (p.Ala2063=) | dbSNP |