| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116120065_116120066insGG | CA3968061 | COL10A1,NT5DC1 | c.529+2120_529+2121insGG (n.529+2120_529+2121insGG) c.*8_*9insCC (n.*8_*9insCC) c.27+2120_27+2121insGG | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120065_116120066insGGG | CA145908006 | COL10A1,NT5DC1 | c.529+2120_529+2121insGGG (n.529+2120_529+2121insGGG) c.*8_*9insCCC (n.*8_*9insCCC) c.27+2120_27+2121insGGG | dbSNP |
| 6 | g.116120065_116120067dup | CA145908005 | COL10A1,NT5DC1 | c.529+2120_529+2122dup (n.529+2120_529+2122dup) c.*6_*8dup (n.*6_*8dup) c.27+2120_27+2122dup | dbSNP gnomAD v4 |
| 6 | g.116120066T>G | CA3968063 | COL10A1,NT5DC1 | c.529+2121T>G (n.529+2121T>G) c.*7A>C (n.*7A>C) c.27+2121T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120066T= | CA1657093160 | COL10A1,NT5DC1 | c.529+2121T= (n.529+2121T=) c.*7A= (n.*7A=) c.27+2121T= | |
| 6 | g.116120066_116120067insTGG | CA2680093572 | COL10A1,NT5DC1 | c.529+2121_529+2122insTGG (n.529+2121_529+2122insTGG) c.*6_*7insCCA (n.*6_*7insCCA) c.27+2121_27+2122insTGG | gnomAD v4 |
| 6 | g.116120067G>A | CA2581596920 | COL10A1,NT5DC1 | c.529+2122G>A (n.529+2122G>A) c.*6C>T (n.*6C>T) c.27+2122G>A | |
| 6 | g.116120067G>C | CA2581596923 | COL10A1,NT5DC1 | c.529+2122G>C (n.529+2122G>C) c.*6C>G (n.*6C>G) c.27+2122G>C | |
| 6 | g.116120067G= | CA1657093161 | COL10A1,NT5DC1 | c.529+2122G= (n.529+2122G=) c.*6C= (n.*6C=) c.27+2122G= | |
| 6 | g.116120067G>T | CA2581596921 | COL10A1,NT5DC1 | c.529+2122G>T (n.529+2122G>T) c.*6C>A (n.*6C>A) c.27+2122G>T | |
| 6 | g.116120067_116120068insGG | CA2581596922 | COL10A1,NT5DC1 | c.529+2122_529+2123insGG (n.529+2122_529+2123insGG) c.*6_*7insCC (n.*6_*7insCC) c.27+2122_27+2123insGG | dbSNP gnomAD v4 |
| 6 | g.116120067_116120068insAGG | CA2680093576 | COL10A1,NT5DC1 | c.529+2122_529+2123insAGG (n.529+2122_529+2123insAGG) c.*6_*7insCTC (n.*6_*7insCTC) c.27+2122_27+2123insAGG | gnomAD v4 |
| 6 | g.116120067_116120068insGAG | CA570037691 | COL10A1,NT5DC1 | c.529+2122_529+2123insGAG (n.529+2122_529+2123insGAG) c.*6_*7insTCC (n.*6_*7insTCC) c.27+2122_27+2123insGAG | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120067_116120068insGGG | CA3968062 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGG (n.529+2122_529+2123insGGG) c.*6_*7insCCC (n.*6_*7insCCC) c.27+2122_27+2123insGGG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 6 | g.116120067_116120068insGGGG | CA145908024 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGGG (n.529+2122_529+2123insGGGG) c.*6_*7insCCCC (n.*6_*7insCCCC) c.27+2122_27+2123insGGGG | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120067_116120068insGGTGGGG | CA2680093574 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGTGGGG (n.529+2122_529+2123insGGTGGGG) c.*6_*7insCCCACCC (n.*6_*7insCCCACCC) c.27+2122_27+2123insGGTGGGG | gnomAD v4 |
| 6 | g.116120067_116120068insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG | CA917841282 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG (n.529+2122_529+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG) c.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC (n.*6_*7insCCCACAGAGCTAATCTAAATCTTGTACACCCC) c.27+2122_27+2123insGGGTGTACAAGATTTAGATTAGCTCTGTGGGG | dbSNP |
| 6 | g.116120067dup | CA2680093575 | COL10A1,NT5DC1 | c.529+2122dup (n.529+2122dup) c.*6dup (n.*6dup) c.27+2122dup | gnomAD v4 |
| 6 | g.116120067_116120069dup | CA2680093573 | COL10A1,NT5DC1 | c.529+2122_529+2124dup (n.529+2122_529+2124dup) c.*4_*6dup (n.*4_*6dup) c.27+2122_27+2124dup | gnomAD v4 |
| 6 | g.116120067_116120068insGGA | CA817679548 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGA (n.529+2122_529+2123insGGA) c.*5_*6insTCC (n.*5_*6insTCC) c.27+2122_27+2123insGGA | dbSNP gnomAD v4 |
| 6 | g.116120067_116120068insGGC | CA3968064 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGC (n.529+2122_529+2123insGGC) c.*5_*6insGCC (n.*5_*6insGCC) c.27+2122_27+2123insGGC | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120067_116120068insGGT | CA145908036 | COL10A1,NT5DC1 | c.529+2122_529+2123insGGT (n.529+2122_529+2123insGGT) c.*5_*6insACC (n.*5_*6insACC) c.27+2122_27+2123insGGT | dbSNP gnomAD v4 |
| 6 | g.116120068T>A | CA2506346607 | COL10A1,NT5DC1 | c.529+2123T>A (n.529+2123T>A) c.*5A>T (n.*5A>T) c.27+2123T>A | |
| 6 | g.116120068T>G | CA145908042 | COL10A1,NT5DC1 | c.529+2123T>G (n.529+2123T>G) c.*5A>C (n.*5A>C) c.27+2123T>G | dbSNP gnomAD v4 COSMIC |
| 6 | g.116120068T= | CA1657093162 | COL10A1,NT5DC1 | c.529+2123T= (n.529+2123T=) c.*5A= (n.*5A=) c.27+2123T= | |
| 6 | g.116120069G>A | CA3968065 | COL10A1,NT5DC1 | c.529+2124G>A (n.529+2124G>A) c.*4C>T (n.*4C>T) c.27+2124G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120069G= | CA1657093163 | COL10A1,NT5DC1 | c.529+2124G= (n.529+2124G=) c.*4C= (n.*4C=) c.27+2124G= | |
| 6 | g.116120069G>T | CA2680093577 | COL10A1,NT5DC1 | c.529+2124G>T (n.529+2124G>T) c.*4C>A (n.*4C>A) c.27+2124G>T | gnomAD v4 |
| 6 | g.116120071A= | CA1657093164 | COL10A1,NT5DC1 | c.529+2126A= (n.529+2126A=) c.*2T= (n.*2T=) c.27+2126A= | |
| 6 | g.116120071A>G | CA817679561 | COL10A1,NT5DC1 | c.529+2126A>G (n.529+2126A>G) c.*2T>C (n.*2T>C) c.27+2126A>G | dbSNP gnomAD v4 |
| 6 | g.116120071_116120072insTG | CA2547297765 | COL10A1,NT5DC1 | c.529+2126_529+2127insTG (n.529+2126_529+2127insTG) c.*1_*2insCA (n.*1_*2insCA) c.27+2126_27+2127insTG | |
| 6 | g.116120072C>T | CA2680093578 | COL10A1,NT5DC1 | c.529+2127C>T (n.529+2127C>T) c.*1G>A (n.*1G>A) c.27+2127C>T | gnomAD v4 |
| 6 | g.116120073T>A | CA365386143 | COL10A1,NT5DC1 | c.529+2128T>A (n.529+2128T>A) c.2043A>T (p.Ter681Cys) c.27+2128T>A | |
| 6 | g.116120073T>C | CA365386144 | COL10A1,NT5DC1 | c.529+2128T>C (n.529+2128T>C) c.2043A>G (p.Ter681Trp) c.27+2128T>C | |
| 6 | g.116120073T>G | CA365386145 | COL10A1,NT5DC1 | c.529+2128T>G (n.529+2128T>G) c.2043A>C (p.Ter681Cys) c.27+2128T>G | |
| 6 | g.116120074C>A | CA365386146 | COL10A1,NT5DC1 | c.529+2129C>A (n.529+2129C>A) c.2042G>T (p.Ter681Leu) c.27+2129C>A | |
| 6 | g.116120074C>G | CA365386147 | COL10A1,NT5DC1 | c.529+2129C>G (n.529+2129C>G) c.2042G>C (p.Ter681Ser) c.27+2129C>G | gnomAD v4 |
| 6 | g.116120074C>T | CA451899322 | COL10A1,NT5DC1 | c.529+2129C>T (n.529+2129C>T) c.2042G>A (p.Ter681=) c.27+2129C>T | |
| 6 | g.116120075A= | CA1657093165 | COL10A1,NT5DC1 | c.529+2130A= (n.529+2130A=) c.2041T= (p.Ter681=) c.27+2130A= | |
| 6 | g.116120075A>C | CA365386148 | COL10A1,NT5DC1 | c.529+2130A>C (n.529+2130A>C) c.2041T>G (p.Ter681Gly) c.27+2130A>C | |
| 6 | g.116120075A>G | CA365386149 | COL10A1,NT5DC1 | c.529+2130A>G (n.529+2130A>G) c.2041T>C (p.Ter681Arg) c.27+2130A>G | dbSNP |
| 6 | g.116120075A>T | CA365386150 | COL10A1,NT5DC1 | c.529+2130A>T (n.529+2130A>T) c.2041T>A (p.Ter681Arg) c.27+2130A>T | |
| 6 | g.116120076C>A | CA365386151 | COL10A1,NT5DC1 | c.529+2131C>A (n.529+2131C>A) c.2040G>T (p.Met680Ile) c.27+2131C>A | |
| 6 | g.116120076C= | CA1657093166 | COL10A1,NT5DC1 | c.529+2131C= (n.529+2131C=) c.2040G= (p.Met680=) c.27+2131C= | |
| 6 | g.116120076C>G | CA3968066 | COL10A1,NT5DC1 | c.529+2131C>G (n.529+2131C>G) c.2040G>C (p.Met680Ile) c.27+2131C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120076C>T | CA365386152 | COL10A1,NT5DC1 | c.529+2131C>T (n.529+2131C>T) c.2040G>A (p.Met680Ile) c.27+2131C>T | |
| 6 | g.116120077A= | CA1657093167 | COL10A1,NT5DC1 | c.529+2132A= (n.529+2132A=) c.2039T= (p.Met680=) c.27+2132A= | |
| 6 | g.116120077A>C | CA365386154 | COL10A1,NT5DC1 | c.529+2132A>C (n.529+2132A>C) c.2039T>G (p.Met680Arg) c.27+2132A>C | |
| 6 | g.116120077A>G | CA365386153 | COL10A1,NT5DC1 | c.529+2132A>G (n.529+2132A>G) c.2039T>C (p.Met680Thr) c.27+2132A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120077A>T | CA3968067 | COL10A1,NT5DC1 | c.529+2132A>T (n.529+2132A>T) c.2039T>A (p.Met680Lys) c.27+2132A>T | ClinVar dbSNP ExAC gnomAD v2 |