Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |