Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.88858817del | CA2695197216 | ACAN | c.6232del (p.Asp2078ThrfsTer14) c.6175del (p.Asp2059ThrfsTer14) | ClinVar |
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=) |