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 |
|---|---|---|---|---|---|
| 6 | g.116125413A= | CA1630834493 | COL10A1,NT5DC1 | c.529+7468A= (n.529+7468A=) c.80T= (p.Met27=) c.27+7468A= | |
| 6 | g.116125413A>C | CA365398200 | COL10A1,NT5DC1 | c.529+7468A>C (n.529+7468A>C) c.80T>G (p.Met27Arg) c.27+7468A>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.116125413A>G | CA3968505 | COL10A1,NT5DC1 | c.529+7468A>G (n.529+7468A>G) c.80T>C (p.Met27Thr) c.27+7468A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125413A>T | CA365398215 | COL10A1,NT5DC1 | c.529+7468A>T (n.529+7468A>T) c.80T>A (p.Met27Lys) c.27+7468A>T | dbSNP |
| 6 | g.116125414T>A | CA365398221 | COL10A1,NT5DC1 | c.529+7469T>A (n.529+7469T>A) c.79A>T (p.Met27Leu) c.27+7469T>A | |
| 6 | g.116125414T>C | CA365398229 | COL10A1,NT5DC1 | c.529+7469T>C (n.529+7469T>C) c.79A>G (p.Met27Val) c.27+7469T>C | |
| 6 | g.116125414T>G | CA365398234 | COL10A1,NT5DC1 | c.529+7469T>G (n.529+7469T>G) c.79A>C (p.Met27Leu) c.27+7469T>G | |
| 6 | g.116125415_116125416insAAAAAAGTT | CA1093491485 | COL10A1,NT5DC1 | c.529+7470_529+7471insAAAAAAGTT (n.529+7470_529+7471insAAAAAAGTT) c.79_80insCTTTTTTAA (p.Gln26_Met27insThrPheLeu) c.27+7470_27+7471insAAAAAAGTT | gnomAD v3 gnomAD v4 |
| 6 | g.116125415T>A | CA365398245 | COL10A1,NT5DC1 | c.529+7470T>A (n.529+7470T>A) c.78A>T (p.Gln26His) c.27+7470T>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125415T>C | CA451596872 | COL10A1,NT5DC1 | c.529+7470T>C (n.529+7470T>C) c.78A>G (p.Gln26=) c.27+7470T>C | |
| 6 | g.116125415T>G | CA365398240 | COL10A1,NT5DC1 | c.529+7470T>G (n.529+7470T>G) c.78A>C (p.Gln26His) c.27+7470T>G | |
| 6 | g.116125415T= | CA1657095600 | COL10A1,NT5DC1 | c.529+7470T= (n.529+7470T=) c.78A= (p.Gln26=) c.27+7470T= | |
| 6 | g.116125416T>A | CA365398253 | COL10A1,NT5DC1 | c.529+7471T>A (n.529+7471T>A) c.77A>T (p.Gln26Leu) c.27+7471T>A | |
| 6 | g.116125416T>C | CA365398275 | COL10A1,NT5DC1 | c.529+7471T>C (n.529+7471T>C) c.77A>G (p.Gln26Arg) c.27+7471T>C | gnomAD v4 |
| 6 | g.116125416T>G | CA365398255 | COL10A1,NT5DC1 | c.529+7471T>G (n.529+7471T>G) c.77A>C (p.Gln26Pro) c.27+7471T>G | |
| 6 | g.116125417G>A | CA365398276 | COL10A1,NT5DC1 | c.529+7472G>A (n.529+7472G>A) c.76C>T (p.Gln26Ter) c.27+7472G>A | |
| 6 | g.116125417G>C | CA365398278 | COL10A1,NT5DC1 | c.529+7472G>C (n.529+7472G>C) c.76C>G (p.Gln26Glu) c.27+7472G>C | |
| 6 | g.116125417G>T | CA365398280 | COL10A1,NT5DC1 | c.529+7472G>T (n.529+7472G>T) c.76C>A (p.Gln26Lys) c.27+7472G>T | |
| 6 | g.116125418G>A | CA451596873 | COL10A1,NT5DC1 | c.529+7473G>A (n.529+7473G>A) c.75C>T (p.Tyr25=) c.27+7473G>A | |
| 6 | g.116125418G>C | CA365398281 | COL10A1,NT5DC1 | c.529+7473G>C (n.529+7473G>C) c.75C>G (p.Tyr25Ter) c.27+7473G>C | |
| 6 | g.116125418G>T | CA365398283 | COL10A1,NT5DC1 | c.529+7473G>T (n.529+7473G>T) c.75C>A (p.Tyr25Ter) c.27+7473G>T | |
| 6 | g.116125419T>A | CA365398286 | COL10A1,NT5DC1 | c.529+7474T>A (n.529+7474T>A) c.74A>T (p.Tyr25Phe) c.27+7474T>A | |
| 6 | g.116125419T>C | CA365398299 | COL10A1,NT5DC1 | c.529+7474T>C (n.529+7474T>C) c.74A>G (p.Tyr25Cys) c.27+7474T>C | |
| 6 | g.116125419T>G | CA365398300 | COL10A1,NT5DC1 | c.529+7474T>G (n.529+7474T>G) c.74A>C (p.Tyr25Ser) c.27+7474T>G | |
| 6 | g.116125420A= | CA1657095601 | COL10A1,NT5DC1 | c.529+7475A= (n.529+7475A=) c.73T= (p.Tyr25=) c.27+7475A= | |
| 6 | g.116125420A>C | CA365398302 | COL10A1,NT5DC1 | c.529+7475A>C (n.529+7475A>C) c.73T>G (p.Tyr25Asp) c.27+7475A>C | |
| 6 | g.116125420A>G | CA3968506 | COL10A1,NT5DC1 | c.529+7475A>G (n.529+7475A>G) c.73T>C (p.Tyr25His) c.27+7475A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125420A>T | CA365398305 | COL10A1,NT5DC1 | c.529+7475A>T (n.529+7475A>T) c.73T>A (p.Tyr25Asn) c.27+7475A>T | |
| 6 | g.116125421T>A | CA451596874 | COL10A1,NT5DC1 | c.529+7476T>A (n.529+7476T>A) c.72A>T (p.Arg24=) c.27+7476T>A | |
| 6 | g.116125421T>C | CA451596875 | COL10A1,NT5DC1 | c.529+7476T>C (n.529+7476T>C) c.72A>G (p.Arg24=) c.27+7476T>C | |
| 6 | g.116125421T>G | CA451596876 | COL10A1,NT5DC1 | c.529+7476T>G (n.529+7476T>G) c.72A>C (p.Arg24=) c.27+7476T>G | |
| 6 | g.116125422C>A | CA365398309 | COL10A1,NT5DC1 | c.529+7477C>A (n.529+7477C>A) c.71G>T (p.Arg24Leu) c.27+7477C>A | |
| 6 | g.116125422C= | CA1657095602 | COL10A1,NT5DC1 | c.529+7477C= (n.529+7477C=) c.71G= (p.Arg24=) c.27+7477C= | |
| 6 | g.116125422C>G | CA365398329 | COL10A1,NT5DC1 | c.529+7477C>G (n.529+7477C>G) c.71G>C (p.Arg24Pro) c.27+7477C>G | |
| 6 | g.116125422C>T | CA3968507 | COL10A1,NT5DC1 | c.529+7477C>T (n.529+7477C>T) c.71G>A (p.Arg24Gln) c.27+7477C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.116125423G>A | CA3968508 | COL10A1,NT5DC1 | c.529+7478G>A (n.529+7478G>A) c.70C>T (p.Arg24Ter) c.27+7478G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125423G>C | CA365398336 | COL10A1,NT5DC1 | c.529+7478G>C (n.529+7478G>C) c.70C>G (p.Arg24Gly) c.27+7478G>C | |
| 6 | g.116125423G= | CA1657095603 | COL10A1,NT5DC1 | c.529+7478G= (n.529+7478G=) c.70C= (p.Arg24=) c.27+7478G= | |
| 6 | g.116125423G>T | CA451596877 | COL10A1,NT5DC1 | c.529+7478G>T (n.529+7478G>T) c.70C>A (p.Arg24=) c.27+7478G>T | gnomAD v4 |
| 6 | g.116125424T>A | CA365398340 | COL10A1,NT5DC1 | c.529+7479T>A (n.529+7479T>A) c.69A>T (p.Glu23Asp) c.27+7479T>A | |
| 6 | g.116125424T>C | CA451596879 | COL10A1,NT5DC1 | c.529+7479T>C (n.529+7479T>C) c.69A>G (p.Glu23=) c.27+7479T>C | |
| 6 | g.116125424T>G | CA365398342 | COL10A1,NT5DC1 | c.529+7479T>G (n.529+7479T>G) c.69A>C (p.Glu23Asp) c.27+7479T>G | |
| 6 | g.116125425T>A | CA365398348 | COL10A1,NT5DC1 | c.529+7480T>A (n.529+7480T>A) c.68A>T (p.Glu23Val) c.27+7480T>A | |
| 6 | g.116125425T>C | CA365398358 | COL10A1,NT5DC1 | c.529+7480T>C (n.529+7480T>C) c.68A>G (p.Glu23Gly) c.27+7480T>C | |
| 6 | g.116125425T>G | CA365398366 | COL10A1,NT5DC1 | c.529+7480T>G (n.529+7480T>G) c.68A>C (p.Glu23Ala) c.27+7480T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125425T= | CA1657095604 | COL10A1,NT5DC1 | c.529+7480T= (n.529+7480T=) c.68A= (p.Glu23=) c.27+7480T= | |
| 6 | g.116125426C>A | CA365398390 | COL10A1,NT5DC1 | c.529+7481C>A (n.529+7481C>A) c.67G>T (p.Glu23Ter) c.27+7481C>A | |
| 6 | g.116125426C>G | CA365398386 | COL10A1,NT5DC1 | c.529+7481C>G (n.529+7481C>G) c.67G>C (p.Glu23Gln) c.27+7481C>G | |
| 6 | g.116125426C>T | CA365398370 | COL10A1,NT5DC1 | c.529+7481C>T (n.529+7481C>T) c.67G>A (p.Glu23Lys) c.27+7481C>T | |
| 6 | g.116125427A>C | CA451596883 | COL10A1,NT5DC1 | c.529+7482A>C (n.529+7482A>C) c.66T>G (p.Ala22=) c.27+7482A>C | |
| 6 | g.116125427A>G | CA451596884 | COL10A1,NT5DC1 | c.529+7482A>G (n.529+7482A>G) c.66T>C (p.Ala22=) c.27+7482A>G | |
| 6 | g.116125427A>T | CA451596885 | COL10A1,NT5DC1 | c.529+7482A>T (n.529+7482A>T) c.66T>A (p.Ala22=) c.27+7482A>T | |
| 6 | g.116125428G>A | CA3968509 | COL10A1,NT5DC1 | c.529+7483G>A (n.529+7483G>A) c.65C>T (p.Ala22Val) c.27+7483G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125428G>C | CA365398400 | COL10A1,NT5DC1 | c.529+7483G>C (n.529+7483G>C) c.65C>G (p.Ala22Gly) c.27+7483G>C | |
| 6 | g.116125428G= | CA1657095605 | COL10A1,NT5DC1 | c.529+7483G= (n.529+7483G=) c.65C= (p.Ala22=) c.27+7483G= | |
| 6 | g.116125428G>T | CA365398410 | COL10A1,NT5DC1 | c.529+7483G>T (n.529+7483G>T) c.65C>A (p.Ala22Asp) c.27+7483G>T | COSMIC |
| 6 | g.116125429C>A | CA365398412 | COL10A1,NT5DC1 | c.529+7484C>A (n.529+7484C>A) c.64G>T (p.Ala22Ser) c.27+7484C>A | |
| 6 | g.116125429C= | CA1657095606 | COL10A1,NT5DC1 | c.529+7484C= (n.529+7484C=) c.64G= (p.Ala22=) c.27+7484C= | |
| 6 | g.116125429C>G | CA365398421 | COL10A1,NT5DC1 | c.529+7484C>G (n.529+7484C>G) c.64G>C (p.Ala22Pro) c.27+7484C>G | |
| 6 | g.116125429C>T | CA3968510 | COL10A1,NT5DC1 | c.529+7484C>T (n.529+7484C>T) c.64G>A (p.Ala22Thr) c.27+7484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125430G>A | CA3968511 | COL10A1,NT5DC1 | c.529+7485G>A (n.529+7485G>A) c.63C>T (p.Tyr21=) c.27+7485G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125430G>C | CA365398432 | COL10A1,NT5DC1 | c.529+7485G>C (n.529+7485G>C) c.63C>G (p.Tyr21Ter) c.27+7485G>C | |
| 6 | g.116125430G= | CA1657095607 | COL10A1,NT5DC1 | c.529+7485G= (n.529+7485G=) c.63C= (p.Tyr21=) c.27+7485G= | |
| 6 | g.116125430G>T | CA365398440 | COL10A1,NT5DC1 | c.529+7485G>T (n.529+7485G>T) c.63C>A (p.Tyr21Ter) c.27+7485G>T | |
| 6 | g.116125431T>A | CA365398452 | COL10A1,NT5DC1 | c.529+7486T>A (n.529+7486T>A) c.62A>T (p.Tyr21Phe) c.27+7486T>A | |
| 6 | g.116125431T>C | CA365398457 | COL10A1,NT5DC1 | c.529+7486T>C (n.529+7486T>C) c.62A>G (p.Tyr21Cys) c.27+7486T>C | gnomAD v4 |
| 6 | g.116125431T>G | CA365398476 | COL10A1,NT5DC1 | c.529+7486T>G (n.529+7486T>G) c.62A>C (p.Tyr21Ser) c.27+7486T>G | |
| 6 | g.116125432A= | CA1657095608 | COL10A1,NT5DC1 | c.529+7487A= (n.529+7487A=) c.61T= (p.Tyr21=) c.27+7487A= | |
| 6 | g.116125432A>C | CA365398488 | COL10A1,NT5DC1 | c.529+7487A>C (n.529+7487A>C) c.61T>G (p.Tyr21Asp) c.27+7487A>C | |
| 6 | g.116125432A>G | CA3968512 | COL10A1,NT5DC1 | c.529+7487A>G (n.529+7487A>G) c.61T>C (p.Tyr21His) c.27+7487A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125432A>T | CA365398496 | COL10A1,NT5DC1 | c.529+7487A>T (n.529+7487A>T) c.61T>A (p.Tyr21Asn) c.27+7487A>T | |
| 6 | g.116125433A= | CA1657095609 | COL10A1,NT5DC1 | c.529+7488A= (n.529+7488A=) c.60T= (p.Phe20=) c.27+7488A= | |
| 6 | g.116125433A>C | CA3968513 | COL10A1,NT5DC1 | c.529+7488A>C (n.529+7488A>C) c.60T>G (p.Phe20Leu) c.27+7488A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125433A>G | CA451596892 | COL10A1,NT5DC1 | c.529+7488A>G (n.529+7488A>G) c.60T>C (p.Phe20=) c.27+7488A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.116125433A>T | CA365398499 | COL10A1,NT5DC1 | c.529+7488A>T (n.529+7488A>T) c.60T>A (p.Phe20Leu) c.27+7488A>T | gnomAD v4 |
| 6 | g.116125434A>C | CA365398520 | COL10A1,NT5DC1 | c.529+7489A>C (n.529+7489A>C) c.59T>G (p.Phe20Cys) c.27+7489A>C | |
| 6 | g.116125434A>G | CA365398521 | COL10A1,NT5DC1 | c.529+7489A>G (n.529+7489A>G) c.59T>C (p.Phe20Ser) c.27+7489A>G | |
| 6 | g.116125434A>T | CA365398522 | COL10A1,NT5DC1 | c.529+7489A>T (n.529+7489A>T) c.59T>A (p.Phe20Tyr) c.27+7489A>T | |
| 6 | g.116125435A>C | CA365398523 | COL10A1,NT5DC1 | c.529+7490A>C (n.529+7490A>C) c.58T>G (p.Phe20Val) c.27+7490A>C | |
| 6 | g.116125435A>G | CA365398525 | COL10A1,NT5DC1 | c.529+7490A>G (n.529+7490A>G) c.58T>C (p.Phe20Leu) c.27+7490A>G | |
| 6 | g.116125435A>T | CA365398530 | COL10A1,NT5DC1 | c.529+7490A>T (n.529+7490A>T) c.58T>A (p.Phe20Ile) c.27+7490A>T | |
| 6 | g.116125436C>A | CA451596904 | COL10A1,NT5DC1 | c.529+7491C>A (n.529+7491C>A) c.57G>T (p.Val19=) c.27+7491C>A | |
| 6 | g.116125436C>G | CA451596906 | COL10A1,NT5DC1 | c.529+7491C>G (n.529+7491C>G) c.57G>C (p.Val19=) c.27+7491C>G | |
| 6 | g.116125436C>T | CA451596909 | COL10A1,NT5DC1 | c.529+7491C>T (n.529+7491C>T) c.57G>A (p.Val19=) c.27+7491C>T | |
| 6 | g.116125437A= | CA1657095610 | COL10A1,NT5DC1 | c.529+7492A= (n.529+7492A=) c.56T= (p.Val19=) c.27+7492A= | |
| 6 | g.116125437A>C | CA365398531 | COL10A1,NT5DC1 | c.529+7492A>C (n.529+7492A>C) c.56T>G (p.Val19Gly) c.27+7492A>C | dbSNP |
| 6 | g.116125437A>G | CA365398533 | COL10A1,NT5DC1 | c.529+7492A>G (n.529+7492A>G) c.56T>C (p.Val19Ala) c.27+7492A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125437A>T | CA365398532 | COL10A1,NT5DC1 | c.529+7492A>T (n.529+7492A>T) c.56T>A (p.Val19Glu) c.27+7492A>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116125438C>A | CA365398534 | COL10A1,NT5DC1 | c.529+7493C>A (n.529+7493C>A) c.55G>T (p.Val19Leu) c.27+7493C>A | |
| 6 | g.116125438C= | CA1657095611 | COL10A1,NT5DC1 | c.529+7493C= (n.529+7493C=) c.55G= (p.Val19=) c.27+7493C= | |
| 6 | g.116125438C>G | CA365398539 | COL10A1,NT5DC1 | c.529+7493C>G (n.529+7493C>G) c.55G>C (p.Val19Leu) c.27+7493C>G | |
| 6 | g.116125438C>T | CA365398543 | COL10A1,NT5DC1 | c.529+7493C>T (n.529+7493C>T) c.55G>A (p.Val19Met) c.27+7493C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125439T>A | CA451596915 | COL10A1,NT5DC1 | c.529+7494T>A (n.529+7494T>A) c.54A>T (p.Gly18=) c.27+7494T>A | |
| 6 | g.116125439T>C | CA451596917 | COL10A1,NT5DC1 | c.529+7494T>C (n.529+7494T>C) c.54A>G (p.Gly18=) c.27+7494T>C | |
| 6 | g.116125439T>G | CA451596914 | COL10A1,NT5DC1 | c.529+7494T>G (n.529+7494T>G) c.54A>C (p.Gly18=) c.27+7494T>G | |
| 6 | g.116125440C>A | CA365398544 | COL10A1,NT5DC1 | c.529+7495C>A (n.529+7495C>A) c.53G>T (p.Gly18Val) c.27+7495C>A | COSMIC |
| 6 | g.116125440C= | CA1657095612 | COL10A1,NT5DC1 | c.529+7495C= (n.529+7495C=) c.53G= (p.Gly18=) c.27+7495C= | |
| 6 | g.116125440C>G | CA365398547 | COL10A1,NT5DC1 | c.529+7495C>G (n.529+7495C>G) c.53G>C (p.Gly18Ala) c.27+7495C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125440C>T | CA127219 | COL10A1,NT5DC1 | c.529+7495C>T (n.529+7495C>T) c.53G>A (p.Gly18Glu) c.27+7495C>T | ClinVar dbSNP |
| 6 | g.116125441dup | CA2680093781 | COL10A1,NT5DC1 | c.529+7496dup (n.529+7496dup) c.53dup (p.Val19SerfsTer5) c.27+7496dup | gnomAD v4 |
| 6 | g.116125441C>A | CA365398548 | COL10A1,NT5DC1 | c.529+7496C>A (n.529+7496C>A) c.52G>T (p.Gly18Ter) c.27+7496C>A | |
| 6 | g.116125441C= | CA1657095613 | COL10A1,NT5DC1 | c.529+7496C= (n.529+7496C=) c.52G= (p.Gly18=) c.27+7496C= | |
| 6 | g.116125441C>G | CA365398549 | COL10A1,NT5DC1 | c.529+7496C>G (n.529+7496C>G) c.52G>C (p.Gly18Arg) c.27+7496C>G | ClinVar |
| 6 | g.116125441C>T | CA127218 | COL10A1,NT5DC1 | c.529+7496C>T (n.529+7496C>T) c.52G>A (p.Gly18Arg) c.27+7496C>T | ClinVar dbSNP |
| 6 | g.116125442A>C | CA365398561 | COL10A1,NT5DC1 | c.529+7497A>C (n.529+7497A>C) c.51T>G (p.His17Gln) c.27+7497A>C | |
| 6 | g.116125442A>G | CA451596919 | COL10A1,NT5DC1 | c.529+7497A>G (n.529+7497A>G) c.51T>C (p.His17=) c.27+7497A>G | gnomAD v4 |
| 6 | g.116125442A>T | CA365398568 | COL10A1,NT5DC1 | c.529+7497A>T (n.529+7497A>T) c.51T>A (p.His17Gln) c.27+7497A>T | gnomAD v4 |
| 6 | g.116125443T>A | CA365398575 | COL10A1,NT5DC1 | c.529+7498T>A (n.529+7498T>A) c.50A>T (p.His17Leu) c.27+7498T>A | |
| 6 | g.116125443T>C | CA365398587 | COL10A1,NT5DC1 | c.529+7498T>C (n.529+7498T>C) c.50A>G (p.His17Arg) c.27+7498T>C | |
| 6 | g.116125443T>G | CA365398577 | COL10A1,NT5DC1 | c.529+7498T>G (n.529+7498T>G) c.50A>C (p.His17Pro) c.27+7498T>G | |
| 6 | g.116125444G>A | CA365398592 | COL10A1,NT5DC1 | c.529+7499G>A (n.529+7499G>A) c.49C>T (p.His17Tyr) c.27+7499G>A | |
| 6 | g.116125444G>C | CA365398594 | COL10A1,NT5DC1 | c.529+7499G>C (n.529+7499G>C) c.49C>G (p.His17Asp) c.27+7499G>C | |
| 6 | g.116125444G>T | CA365398593 | COL10A1,NT5DC1 | c.529+7499G>T (n.529+7499G>T) c.49C>A (p.His17Asn) c.27+7499G>T | |
| 6 | g.116125445A>C | CA451596921 | COL10A1,NT5DC1 | c.529+7500A>C (n.529+7500A>C) c.48T>G (p.Val16=) c.27+7500A>C | |
| 6 | g.116125445A>G | CA451596922 | COL10A1,NT5DC1 | c.529+7500A>G (n.529+7500A>G) c.48T>C (p.Val16=) c.27+7500A>G | |
| 6 | g.116125445A>T | CA451596923 | COL10A1,NT5DC1 | c.529+7500A>T (n.529+7500A>T) c.48T>A (p.Val16=) c.27+7500A>T | |
| 6 | g.116125446A= | CA1657095614 | COL10A1,NT5DC1 | c.529+7501A= (n.529+7501A=) c.47T= (p.Val16=) c.27+7501A= | |
| 6 | g.116125446A>C | CA365398595 | COL10A1,NT5DC1 | c.529+7501A>C (n.529+7501A>C) c.47T>G (p.Val16Gly) c.27+7501A>C | |
| 6 | g.116125446A>G | CA365398596 | COL10A1,NT5DC1 | c.529+7501A>G (n.529+7501A>G) c.47T>C (p.Val16Ala) c.27+7501A>G | dbSNP |
| 6 | g.116125446A>T | CA365398597 | COL10A1,NT5DC1 | c.529+7501A>T (n.529+7501A>T) c.47T>A (p.Val16Asp) c.27+7501A>T | |
| 6 | g.116125447C>A | CA365398599 | COL10A1,NT5DC1 | c.529+7502C>A (n.529+7502C>A) c.46G>T (p.Val16Phe) c.27+7502C>A | ClinVar dbSNP |
| 6 | g.116125447C>G | CA365398600 | COL10A1,NT5DC1 | c.529+7502C>G (n.529+7502C>G) c.46G>C (p.Val16Leu) c.27+7502C>G | ClinVar |
| 6 | g.116125447C>T | CA365398601 | COL10A1,NT5DC1 | c.529+7502C>T (n.529+7502C>T) c.46G>A (p.Val16Ile) c.27+7502C>T | gnomAD v4 |
| 6 | g.116125448C>A | CA365398602 | COL10A1,NT5DC1 | c.529+7503C>A (n.529+7503C>A) c.45G>T (p.Leu15Phe) c.27+7503C>A | |
| 6 | g.116125448C>G | CA365398603 | COL10A1,NT5DC1 | c.529+7503C>G (n.529+7503C>G) c.45G>C (p.Leu15Phe) c.27+7503C>G | |
| 6 | g.116125448C>T | CA451596925 | COL10A1,NT5DC1 | c.529+7503C>T (n.529+7503C>T) c.45G>A (p.Leu15=) c.27+7503C>T | |
| 6 | g.116125449A>C | CA365398609 | COL10A1,NT5DC1 | c.529+7504A>C (n.529+7504A>C) c.44T>G (p.Leu15Trp) c.27+7504A>C | |
| 6 | g.116125449A>G | CA365398612 | COL10A1,NT5DC1 | c.529+7504A>G (n.529+7504A>G) c.44T>C (p.Leu15Ser) c.27+7504A>G | |
| 6 | g.116125449A>T | CA365398616 | COL10A1,NT5DC1 | c.529+7504A>T (n.529+7504A>T) c.44T>A (p.Leu15Ter) c.27+7504A>T | |
| 6 | g.116125450A= | CA1657095615 | COL10A1,NT5DC1 | c.529+7505A= (n.529+7505A=) c.43T= (p.Leu15=) c.27+7505A= | |
| 6 | g.116125450A>C | CA3968514 | COL10A1,NT5DC1 | c.529+7505A>C (n.529+7505A>C) c.43T>G (p.Leu15Val) c.27+7505A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125450A>G | CA451596926 | COL10A1,NT5DC1 | c.529+7505A>G (n.529+7505A>G) c.43T>C (p.Leu15=) c.27+7505A>G | dbSNP gnomAD v4 |
| 6 | g.116125450A>T | CA365398623 | COL10A1,NT5DC1 | c.529+7505A>T (n.529+7505A>T) c.43T>A (p.Leu15Met) c.27+7505A>T | COSMIC |
| 6 | g.116125451G>A | CA451596928 | COL10A1,NT5DC1 | c.529+7506G>A (n.529+7506G>A) c.42C>T (p.Asn14=) c.27+7506G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125451G>C | CA365398633 | COL10A1,NT5DC1 | c.529+7506G>C (n.529+7506G>C) c.42C>G (p.Asn14Lys) c.27+7506G>C | |
| 6 | g.116125451G= | CA1657095616 | COL10A1,NT5DC1 | c.529+7506G= (n.529+7506G=) c.42C= (p.Asn14=) c.27+7506G= | |
| 6 | g.116125451G>T | CA365398637 | COL10A1,NT5DC1 | c.529+7506G>T (n.529+7506G>T) c.42C>A (p.Asn14Lys) c.27+7506G>T | |
| 6 | g.116125452T>A | CA365398643 | COL10A1,NT5DC1 | c.529+7507T>A (n.529+7507T>A) c.41A>T (p.Asn14Ile) c.27+7507T>A | |
| 6 | g.116125452T>C | CA365398646 | COL10A1,NT5DC1 | c.529+7507T>C (n.529+7507T>C) c.41A>G (p.Asn14Ser) c.27+7507T>C | |
| 6 | g.116125452T>G | CA365398658 | COL10A1,NT5DC1 | c.529+7507T>G (n.529+7507T>G) c.41A>C (p.Asn14Thr) c.27+7507T>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.116125452T= | CA1657095617 | COL10A1,NT5DC1 | c.529+7507T= (n.529+7507T=) c.41A= (p.Asn14=) c.27+7507T= | |
| 6 | g.116125453T>A | CA365398669 | COL10A1,NT5DC1 | c.529+7508T>A (n.529+7508T>A) c.40A>T (p.Asn14Tyr) c.27+7508T>A | gnomAD v4 |
| 6 | g.116125453T>C | CA365398671 | COL10A1,NT5DC1 | c.529+7508T>C (n.529+7508T>C) c.40A>G (p.Asn14Asp) c.27+7508T>C | |
| 6 | g.116125453T>G | CA365398673 | COL10A1,NT5DC1 | c.529+7508T>G (n.529+7508T>G) c.40A>C (p.Asn14His) c.27+7508T>G | |
| 6 | g.116125454C>A | CA365398674 | COL10A1,NT5DC1 | c.529+7509C>A (n.529+7509C>A) c.39G>T (p.Leu13Phe) c.27+7509C>A | |
| 6 | g.116125454C>G | CA365398675 | COL10A1,NT5DC1 | c.529+7509C>G (n.529+7509C>G) c.39G>C (p.Leu13Phe) c.27+7509C>G | |
| 6 | g.116125454C>T | CA451596929 | COL10A1,NT5DC1 | c.529+7509C>T (n.529+7509C>T) c.39G>A (p.Leu13=) c.27+7509C>T | |
| 6 | g.116125455A>C | CA365398676 | COL10A1,NT5DC1 | c.529+7510A>C (n.529+7510A>C) c.38T>G (p.Leu13Trp) c.27+7510A>C | |
| 6 | g.116125455A>G | CA365398680 | COL10A1,NT5DC1 | c.529+7510A>G (n.529+7510A>G) c.38T>C (p.Leu13Ser) c.27+7510A>G | |
| 6 | g.116125455A>T | CA365398685 | COL10A1,NT5DC1 | c.529+7510A>T (n.529+7510A>T) c.38T>A (p.Leu13Ter) c.27+7510A>T | |
| 6 | g.116125456A= | CA1657095618 | COL10A1,NT5DC1 | c.529+7511A= (n.529+7511A=) c.37T= (p.Leu13=) c.27+7511A= | |
| 6 | g.116125456A>C | CA365398690 | COL10A1,NT5DC1 | c.529+7511A>C (n.529+7511A>C) c.37T>G (p.Leu13Val) c.27+7511A>C | |
| 6 | g.116125456A>G | CA451596930 | COL10A1,NT5DC1 | c.529+7511A>G (n.529+7511A>G) c.37T>C (p.Leu13=) c.27+7511A>G | dbSNP gnomAD v4 |
| 6 | g.116125456A>T | CA365398691 | COL10A1,NT5DC1 | c.529+7511A>T (n.529+7511A>T) c.37T>A (p.Leu13Met) c.27+7511A>T | |
| 6 | g.116125457G>A | CA451596933 | COL10A1,NT5DC1 | c.529+7512G>A (n.529+7512G>A) c.36C>T (p.Ser12=) c.27+7512G>A | |
| 6 | g.116125457G>C | CA451596935 | COL10A1,NT5DC1 | c.529+7512G>C (n.529+7512G>C) c.36C>G (p.Ser12=) c.27+7512G>C | |
| 6 | g.116125457G>T | CA451596936 | COL10A1,NT5DC1 | c.529+7512G>T (n.529+7512G>T) c.36C>A (p.Ser12=) c.27+7512G>T | |
| 6 | g.116125458G>A | CA365398692 | COL10A1,NT5DC1 | c.529+7513G>A (n.529+7513G>A) c.35C>T (p.Ser12Phe) c.27+7513G>A | |
| 6 | g.116125458G>C | CA365398693 | COL10A1,NT5DC1 | c.529+7513G>C (n.529+7513G>C) c.35C>G (p.Ser12Cys) c.27+7513G>C | |
| 6 | g.116125458G>T | CA365398694 | COL10A1,NT5DC1 | c.529+7513G>T (n.529+7513G>T) c.35C>A (p.Ser12Tyr) c.27+7513G>T | |
| 6 | g.116125459A>C | CA365398699 | COL10A1,NT5DC1 | c.529+7514A>C (n.529+7514A>C) c.34T>G (p.Ser12Ala) c.27+7514A>C | |
| 6 | g.116125459A>G | CA365398703 | COL10A1,NT5DC1 | c.529+7514A>G (n.529+7514A>G) c.34T>C (p.Ser12Pro) c.27+7514A>G | |
| 6 | g.116125459A>T | CA365398704 | COL10A1,NT5DC1 | c.529+7514A>T (n.529+7514A>T) c.34T>A (p.Ser12Thr) c.27+7514A>T | |
| 6 | g.116125460T>A | CA451596937 | COL10A1,NT5DC1 | c.529+7515T>A (n.529+7515T>A) c.33A>T (p.Val11=) c.27+7515T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125460T>C | CA451596940 | COL10A1,NT5DC1 | c.529+7515T>C (n.529+7515T>C) c.33A>G (p.Val11=) c.27+7515T>C | |
| 6 | g.116125460T>G | CA451596939 | COL10A1,NT5DC1 | c.529+7515T>G (n.529+7515T>G) c.33A>C (p.Val11=) c.27+7515T>G | |
| 6 | g.116125460T= | CA1657095619 | COL10A1,NT5DC1 | c.529+7515T= (n.529+7515T=) c.33A= (p.Val11=) c.27+7515T= | |
| 6 | g.116125461A>C | CA365398705 | COL10A1,NT5DC1 | c.529+7516A>C (n.529+7516A>C) c.32T>G (p.Val11Gly) c.27+7516A>C | |
| 6 | g.116125461A>G | CA365398706 | COL10A1,NT5DC1 | c.529+7516A>G (n.529+7516A>G) c.32T>C (p.Val11Ala) c.27+7516A>G | |
| 6 | g.116125461A>T | CA365398707 | COL10A1,NT5DC1 | c.529+7516A>T (n.529+7516A>T) c.32T>A (p.Val11Glu) c.27+7516A>T | |
| 6 | g.116125462C>A | CA365398708 | COL10A1,NT5DC1 | c.529+7517C>A (n.529+7517C>A) c.31G>T (p.Val11Leu) c.27+7517C>A | |
| 6 | g.116125462C>G | CA365398710 | COL10A1,NT5DC1 | c.529+7517C>G (n.529+7517C>G) c.31G>C (p.Val11Leu) c.27+7517C>G | |
| 6 | g.116125462C>T | CA365398714 | COL10A1,NT5DC1 | c.529+7517C>T (n.529+7517C>T) c.31G>A (p.Val11Ile) c.27+7517C>T | |
| 6 | g.116125463T>A | CA451596941 | COL10A1,NT5DC1 | c.529+7518T>A (n.529+7518T>A) c.30A>T (p.Leu10=) c.27+7518T>A | |
| 6 | g.116125463T>C | CA3968515 | COL10A1,NT5DC1 | c.529+7518T>C (n.529+7518T>C) c.30A>G (p.Leu10=) c.27+7518T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125463T>G | CA451596943 | COL10A1,NT5DC1 | c.529+7518T>G (n.529+7518T>G) c.30A>C (p.Leu10=) c.27+7518T>G | |
| 6 | g.116125463T= | CA1657095620 | COL10A1,NT5DC1 | c.529+7518T= (n.529+7518T=) c.30A= (p.Leu10=) c.27+7518T= | |
| 6 | g.116125464A>C | CA365398725 | COL10A1,NT5DC1 | c.529+7519A>C (n.529+7519A>C) c.29T>G (p.Leu10Arg) c.27+7519A>C | |
| 6 | g.116125464A>G | CA365398718 | COL10A1,NT5DC1 | c.529+7519A>G (n.529+7519A>G) c.29T>C (p.Leu10Pro) c.27+7519A>G | |
| 6 | g.116125464A>T | CA365398722 | COL10A1,NT5DC1 | c.529+7519A>T (n.529+7519A>T) c.29T>A (p.Leu10Gln) c.27+7519A>T | |
| 6 | g.116125465G>A | CA451596944 | COL10A1,NT5DC1 | c.529+7520G>A (n.529+7520G>A) c.28C>T (p.Leu10=) c.27+7520G>A | |
| 6 | g.116125465G>C | CA365398733 | COL10A1,NT5DC1 | c.529+7520G>C (n.529+7520G>C) c.28C>G (p.Leu10Val) c.27+7520G>C | |
| 6 | g.116125465G>T | CA365398734 | COL10A1,NT5DC1 | c.529+7520G>T (n.529+7520G>T) c.28C>A (p.Leu10Ile) c.27+7520G>T | |
| 6 | g.116125466C>A | CA451596945 | COL10A1,NT5DC1 | c.529+7521C>A (n.529+7521C>A) c.27G>T (p.Leu9=) c.27+7521C>A | |
| 6 | g.116125466C>G | CA451596946 | COL10A1,NT5DC1 | c.529+7521C>G (n.529+7521C>G) c.27G>C (p.Leu9=) c.27+7521C>G | |
| 6 | g.116125466C>T | CA451596947 | COL10A1,NT5DC1 | c.529+7521C>T (n.529+7521C>T) c.27G>A (p.Leu9=) c.27+7521C>T | gnomAD v4 |
| 6 | g.116125467del | CA2680093782 | COL10A1,NT5DC1 | c.529+7522del (n.529+7522del) c.26del (p.Leu9ArgfsTer2) c.27+7522del | gnomAD v4 |
| 6 | g.116125467A>C | CA365398739 | COL10A1,NT5DC1 | c.529+7522A>C (n.529+7522A>C) c.26T>G (p.Leu9Arg) c.27+7522A>C | |
| 6 | g.116125467A>G | CA365398742 | COL10A1,NT5DC1 | c.529+7522A>G (n.529+7522A>G) c.26T>C (p.Leu9Pro) c.27+7522A>G | |
| 6 | g.116125467A>T | CA365398754 | COL10A1,NT5DC1 | c.529+7522A>T (n.529+7522A>T) c.26T>A (p.Leu9Gln) c.27+7522A>T | |
| 6 | g.116125468G>A | CA451596949 | COL10A1,NT5DC1 | c.529+7523G>A (n.529+7523G>A) c.25C>T (p.Leu9=) c.27+7523G>A | |
| 6 | g.116125468G>C | CA365398772 | COL10A1,NT5DC1 | c.529+7523G>C (n.529+7523G>C) c.25C>G (p.Leu9Val) c.27+7523G>C | |
| 6 | g.116125468G>T | CA365398776 | COL10A1,NT5DC1 | c.529+7523G>T (n.529+7523G>T) c.25C>A (p.Leu9Met) c.27+7523G>T | |
| 6 | g.116125469C>A | CA365398782 | COL10A1,NT5DC1 | c.529+7524C>A (n.529+7524C>A) c.24G>T (p.Leu8Phe) c.27+7524C>A | |
| 6 | g.116125469C>G | CA365398787 | COL10A1,NT5DC1 | c.529+7524C>G (n.529+7524C>G) c.24G>C (p.Leu8Phe) c.27+7524C>G | |
| 6 | g.116125469C>T | CA451596950 | COL10A1,NT5DC1 | c.529+7524C>T (n.529+7524C>T) c.24G>A (p.Leu8=) c.27+7524C>T | |
| 6 | g.116125470A= | CA1657095621 | COL10A1,NT5DC1 | c.529+7525A= (n.529+7525A=) c.23T= (p.Leu8=) c.27+7525A= | |
| 6 | g.116125470A>C | CA201546 | COL10A1,NT5DC1 | c.529+7525A>C (n.529+7525A>C) c.23T>G (p.Leu8Trp) c.27+7525A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125470A>G | CA365398792 | COL10A1,NT5DC1 | c.529+7525A>G (n.529+7525A>G) c.23T>C (p.Leu8Ser) c.27+7525A>G | |
| 6 | g.116125470A>T | CA365398796 | COL10A1,NT5DC1 | c.529+7525A>T (n.529+7525A>T) c.23T>A (p.Leu8Ter) c.27+7525A>T | |
| 6 | g.116125471A= | CA1657095622 | COL10A1,NT5DC1 | c.529+7526A= (n.529+7526A=) c.22T= (p.Leu8=) c.27+7526A= | |
| 6 | g.116125471A>C | CA365398802 | COL10A1,NT5DC1 | c.529+7526A>C (n.529+7526A>C) c.22T>G (p.Leu8Val) c.27+7526A>C | |
| 6 | g.116125471A>G | CA451596952 | COL10A1,NT5DC1 | c.529+7526A>G (n.529+7526A>G) c.22T>C (p.Leu8=) c.27+7526A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.116125471A>T | CA365398805 | COL10A1,NT5DC1 | c.529+7526A>T (n.529+7526A>T) c.22T>A (p.Leu8Met) c.27+7526A>T | |
| 6 | g.116125472A>C | CA365398822 | COL10A1,NT5DC1 | c.529+7527A>C (n.529+7527A>C) c.21T>G (p.Phe7Leu) c.27+7527A>C | |
| 6 | g.116125472A>G | CA451596953 | COL10A1,NT5DC1 | c.529+7527A>G (n.529+7527A>G) c.21T>C (p.Phe7=) c.27+7527A>G | |
| 6 | g.116125472A>T | CA365398836 | COL10A1,NT5DC1 | c.529+7527A>T (n.529+7527A>T) c.21T>A (p.Phe7Leu) c.27+7527A>T | |
| 6 | g.116125473A>C | CA365398841 | COL10A1,NT5DC1 | c.529+7528A>C (n.529+7528A>C) c.20T>G (p.Phe7Cys) c.27+7528A>C | |
| 6 | g.116125473A>G | CA365398858 | COL10A1,NT5DC1 | c.529+7528A>G (n.529+7528A>G) c.20T>C (p.Phe7Ser) c.27+7528A>G | |
| 6 | g.116125473A>T | CA365398855 | COL10A1,NT5DC1 | c.529+7528A>T (n.529+7528A>T) c.20T>A (p.Phe7Tyr) c.27+7528A>T | |
| 6 | g.116125474A= | CA1657095623 | COL10A1,NT5DC1 | c.529+7529A= (n.529+7529A=) c.19T= (p.Phe7=) c.27+7529A= | |
| 6 | g.116125474A>C | CA3968516 | COL10A1,NT5DC1 | c.529+7529A>C (n.529+7529A>C) c.19T>G (p.Phe7Val) c.27+7529A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125474A>G | CA365398870 | COL10A1,NT5DC1 | c.529+7529A>G (n.529+7529A>G) c.19T>C (p.Phe7Leu) c.27+7529A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.116125474A>T | CA365398877 | COL10A1,NT5DC1 | c.529+7529A>T (n.529+7529A>T) c.19T>A (p.Phe7Ile) c.27+7529A>T | |
| 6 | g.116125474_116125475delinsAG | CA1657095624 | COL10A1,NT5DC1 | c.529+7529_529+7530delinsAG (n.529+7529_529+7530delinsAG) c.18_19delinsCT (p.Pro6=) c.27+7529_27+7530delinsAG | |
| 6 | g.116125475G>A | CA451596957 | COL10A1,NT5DC1 | c.529+7530G>A (n.529+7530G>A) c.18C>T (p.Pro6=) c.27+7530G>A | gnomAD v4 |
| 6 | g.116125475G>C | CA451596958 | COL10A1,NT5DC1 | c.529+7530G>C (n.529+7530G>C) c.18C>G (p.Pro6=) c.27+7530G>C | |
| 6 | g.116125475G>T | CA451596959 | COL10A1,NT5DC1 | c.529+7530G>T (n.529+7530G>T) c.18C>A (p.Pro6=) c.27+7530G>T | |
| 6 | g.116125477del | CA569681962 | COL10A1,NT5DC1 | c.529+7532del (n.529+7532del) c.18del (p.Leu8CysfsTer3) c.27+7532del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116125476G>A | CA365398881 | COL10A1,NT5DC1 | c.529+7531G>A (n.529+7531G>A) c.17C>T (p.Pro6Leu) c.27+7531G>A | |
| 6 | g.116125476G>C | CA365398890 | COL10A1,NT5DC1 | c.529+7531G>C (n.529+7531G>C) c.17C>G (p.Pro6Arg) c.27+7531G>C | |
| 6 | g.116125476G>T | CA365398894 | COL10A1,NT5DC1 | c.529+7531G>T (n.529+7531G>T) c.17C>A (p.Pro6His) c.27+7531G>T | |
| 6 | g.116125477G>A | CA365398904 | COL10A1,NT5DC1 | c.529+7532G>A (n.529+7532G>A) c.16C>T (p.Pro6Ser) c.27+7532G>A | gnomAD v4 |
| 6 | g.116125477G>C | CA365398907 | COL10A1,NT5DC1 | c.529+7532G>C (n.529+7532G>C) c.16C>G (p.Pro6Ala) c.27+7532G>C | |
| 6 | g.116125477G= | CA1657095625 | COL10A1,NT5DC1 | c.529+7532G= (n.529+7532G=) c.16C= (p.Pro6=) c.27+7532G= | |
| 6 | g.116125477G>T | CA365398908 | COL10A1,NT5DC1 | c.529+7532G>T (n.529+7532G>T) c.16C>A (p.Pro6Thr) c.27+7532G>T | |
| 6 | g.116125478T>A | CA451596961 | COL10A1,NT5DC1 | c.529+7533T>A (n.529+7533T>A) c.15A>T (p.Ile5=) c.27+7533T>A | |
| 6 | g.116125478T>C | CA365398909 | COL10A1,NT5DC1 | c.529+7533T>C (n.529+7533T>C) c.15A>G (p.Ile5Met) c.27+7533T>C | |
| 6 | g.116125478T>G | CA451596962 | COL10A1,NT5DC1 | c.529+7533T>G (n.529+7533T>G) c.15A>C (p.Ile5=) c.27+7533T>G | |
| 6 | g.116125479_116125480insAAGGTAAATTGAATTGTATA | CA3968517 | COL10A1,NT5DC1 | c.529+7534_529+7535insAAGGTAAATTGAATTGTATA (n.529+7534_529+7535insAAGGTAAATTGAATTGTATA) c.15_16insTACAATTCAATTTACCTTTA (p.Pro6TyrfsTer12) c.27+7534_27+7535insAAGGTAAATTGAATTGTATA | dbSNP ExAC |
| 6 | g.116125479A= | CA1657095626 | COL10A1,NT5DC1 | c.529+7534A= (n.529+7534A=) c.14T= (p.Ile5=) c.27+7534A= | |
| 6 | g.116125479A>C | CA365398912 | COL10A1,NT5DC1 | c.529+7534A>C (n.529+7534A>C) c.14T>G (p.Ile5Arg) c.27+7534A>C | |
| 6 | g.116125479A>G | CA365398911 | COL10A1,NT5DC1 | c.529+7534A>G (n.529+7534A>G) c.14T>C (p.Ile5Thr) c.27+7534A>G | dbSNP gnomAD v4 |
| 6 | g.116125479A>T | CA365398910 | COL10A1,NT5DC1 | c.529+7534A>T (n.529+7534A>T) c.14T>A (p.Ile5Lys) c.27+7534A>T | |
| 6 | g.116125479_116125480insAAGG | CA3968518 | COL10A1,NT5DC1 | c.529+7534_529+7535insAAGG (n.529+7534_529+7535insAAGG) c.13_14insCCTT (p.Ile5ThrfsTer20) c.27+7534_27+7535insAAGG | dbSNP ExAC gnomAD v2 |
| 6 | g.116125479_116125480insAAGGTAAATTGAATTGTATAT | CA3968519 | COL10A1,NT5DC1 | c.529+7534_529+7535insAAGGTAAATTGAATTGTATAT (n.529+7534_529+7535insAAGGTAAATTGAATTGTATAT) c.13_14insATATACAATTCAATTTACCTT (p.Ile5delinsAsnIleGlnPheAsnLeuProLeu) c.27+7534_27+7535insAAGGTAAATTGAATTGTATAT | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125479_116125480insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAG | CA3968520 | COL10A1,NT5DC1 | c.529+7534_529+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAG (n.529+7534_529+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAG) c.13_14insCTTGTTAATAGAACAAAATATACAATTCAATTTACCTT (p.Ile5ThrfsTer3) c.27+7534_27+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAG | dbSNP ExAC gnomAD v2 |
| 6 | g.116125479_116125480insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC | CA569681963 | COL10A1,NT5DC1 | c.529+7534_529+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC (n.529+7534_529+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC) c.13_14insGCAACTTGTTAATAGAACAAAATATACAATTCAATTTACCTT (p.Ile5delinsSerAsnLeuLeuIleGluGlnAsnIleGlnPheAsnLeuProLeu) c.27+7534_27+7535insAAGGTAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC | gnomAD v2 |
| 6 | g.116125480T>A | CA365398932 | COL10A1,NT5DC1 | c.529+7535T>A (n.529+7535T>A) c.13A>T (p.Ile5Leu) c.27+7535T>A | |
| 6 | g.116125480T>C | CA365398933 | COL10A1,NT5DC1 | c.529+7535T>C (n.529+7535T>C) c.13A>G (p.Ile5Val) c.27+7535T>C | |
| 6 | g.116125480T>G | CA365398934 | COL10A1,NT5DC1 | c.529+7535T>G (n.529+7535T>G) c.13A>C (p.Ile5Leu) c.27+7535T>G | |
| 6 | g.116125480T= | CA1657095627 | COL10A1,NT5DC1 | c.529+7535T= (n.529+7535T=) c.13A= (p.Ile5=) c.27+7535T= | |
| 6 | g.116125480_116125481insAAATTGAA | CA3968521 | COL10A1,NT5DC1 | c.529+7535_529+7536insAAATTGAA (n.529+7535_529+7536insAAATTGAA) c.12_13insTTCAATTT (p.Ile5PhefsTer9) c.27+7535_27+7536insAAATTGAA | dbSNP ExAC gnomAD v2 |
| 6 | g.116125480_116125481insAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC | CA569681964 | COL10A1,NT5DC1 | c.529+7535_529+7536insAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC (n.529+7535_529+7536insAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC) c.12_13insGCAACTTGTTAATAGAACAAAATATACAATTCAATTT (p.Ile5AlafsTer4) c.27+7535_27+7536insAAATTGAATTGTATATTTTGTTCTATTAACAAGTTGC | gnomAD v2 |
| 6 | g.116125481T>A | CA365398935 | COL10A1,NT5DC1 | c.529+7536T>A (n.529+7536T>A) c.12A>T (p.Gln4His) c.27+7536T>A | |
| 6 | g.116125481T>C | CA451596968 | COL10A1,NT5DC1 | c.529+7536T>C (n.529+7536T>C) c.12A>G (p.Gln4=) c.27+7536T>C | dbSNP gnomAD v4 |
| 6 | g.116125481T>G | CA365398938 | COL10A1,NT5DC1 | c.529+7536T>G (n.529+7536T>G) c.12A>C (p.Gln4His) c.27+7536T>G | |
| 6 | g.116125481T= | CA1657095628 | COL10A1,NT5DC1 | c.529+7536T= (n.529+7536T=) c.12A= (p.Gln4=) c.27+7536T= | |
| 6 | g.116125482T>A | CA365398942 | COL10A1,NT5DC1 | c.529+7537T>A (n.529+7537T>A) c.11A>T (p.Gln4Leu) c.27+7537T>A | |
| 6 | g.116125482T>C | CA3968522 | COL10A1,NT5DC1 | c.529+7537T>C (n.529+7537T>C) c.11A>G (p.Gln4Arg) c.27+7537T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125482T>G | CA365398971 | COL10A1,NT5DC1 | c.529+7537T>G (n.529+7537T>G) c.11A>C (p.Gln4Pro) c.27+7537T>G | |
| 6 | g.116125482T= | CA1657095629 | COL10A1,NT5DC1 | c.529+7537T= (n.529+7537T=) c.11A= (p.Gln4=) c.27+7537T= | |
| 6 | g.116125483G>A | CA365398974 | COL10A1,NT5DC1 | c.529+7538G>A (n.529+7538G>A) c.10C>T (p.Gln4Ter) c.27+7538G>A | dbSNP |
| 6 | g.116125483G>C | CA365398973 | COL10A1,NT5DC1 | c.529+7538G>C (n.529+7538G>C) c.10C>G (p.Gln4Glu) c.27+7538G>C | |
| 6 | g.116125483G= | CA1657095630 | COL10A1,NT5DC1 | c.529+7538G= (n.529+7538G=) c.10C= (p.Gln4=) c.27+7538G= | |
| 6 | g.116125483G>T | CA365398972 | COL10A1,NT5DC1 | c.529+7538G>T (n.529+7538G>T) c.10C>A (p.Gln4Lys) c.27+7538G>T | gnomAD v4 |
| 6 | g.116125484T>A | CA451596970 | COL10A1,NT5DC1 | c.529+7539T>A (n.529+7539T>A) c.9A>T (p.Pro3=) c.27+7539T>A | |
| 6 | g.116125484T>C | CA451596972 | COL10A1,NT5DC1 | c.529+7539T>C (n.529+7539T>C) c.9A>G (p.Pro3=) c.27+7539T>C | |
| 6 | g.116125484T>G | CA451596973 | COL10A1,NT5DC1 | c.529+7539T>G (n.529+7539T>G) c.9A>C (p.Pro3=) c.27+7539T>G | |
| 6 | g.116125484_116125485insCAA | CA2680093783 | COL10A1,NT5DC1 | c.529+7539_529+7540insCAA (n.529+7539_529+7540insCAA) c.8_9insTTG (p.Pro4Ter) c.27+7539_27+7540insCAA | gnomAD v4 |
| 6 | g.116125485G>A | CA365398976 | COL10A1,NT5DC1 | c.529+7540G>A (n.529+7540G>A) c.8C>T (p.Pro3Leu) c.27+7540G>A | |
| 6 | g.116125485G>C | CA365398977 | COL10A1,NT5DC1 | c.529+7540G>C (n.529+7540G>C) c.8C>G (p.Pro3Arg) c.27+7540G>C | |
| 6 | g.116125485G>T | CA365398978 | COL10A1,NT5DC1 | c.529+7540G>T (n.529+7540G>T) c.8C>A (p.Pro3Gln) c.27+7540G>T | |
| 6 | g.116125486G>A | CA3968523 | COL10A1,NT5DC1 | c.529+7541G>A (n.529+7541G>A) c.7C>T (p.Pro3Ser) c.27+7541G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125486G>C | CA365398982 | COL10A1,NT5DC1 | c.529+7541G>C (n.529+7541G>C) c.7C>G (p.Pro3Ala) c.27+7541G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125486G= | CA1657095631 | COL10A1,NT5DC1 | c.529+7541G= (n.529+7541G=) c.7C= (p.Pro3=) c.27+7541G= | |
| 6 | g.116125486G>T | CA365398988 | COL10A1,NT5DC1 | c.529+7541G>T (n.529+7541G>T) c.7C>A (p.Pro3Thr) c.27+7541G>T | |
| 6 | g.116125487C>A | CA451596983 | COL10A1,NT5DC1 | c.529+7542C>A (n.529+7542C>A) c.6G>T (p.Leu2=) c.27+7542C>A | |
| 6 | g.116125487C>G | CA451596984 | COL10A1,NT5DC1 | c.529+7542C>G (n.529+7542C>G) c.6G>C (p.Leu2=) c.27+7542C>G | |
| 6 | g.116125487C>T | CA451596985 | COL10A1,NT5DC1 | c.529+7542C>T (n.529+7542C>T) c.6G>A (p.Leu2=) c.27+7542C>T | |
| 6 | g.116125488A>C | CA365399003 | COL10A1,NT5DC1 | c.529+7543A>C (n.529+7543A>C) c.5T>G (p.Leu2Arg) c.27+7543A>C | gnomAD v4 |
| 6 | g.116125488A>G | CA365398993 | COL10A1,NT5DC1 | c.529+7543A>G (n.529+7543A>G) c.5T>C (p.Leu2Pro) c.27+7543A>G | |
| 6 | g.116125488A>T | CA365398998 | COL10A1,NT5DC1 | c.529+7543A>T (n.529+7543A>T) c.5T>A (p.Leu2Gln) c.27+7543A>T | |
| 6 | g.116125489G>A | CA451596989 | COL10A1,NT5DC1 | c.529+7544G>A (n.529+7544G>A) c.4C>T (p.Leu2=) c.27+7544G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125489G>C | CA365399018 | COL10A1,NT5DC1 | c.529+7544G>C (n.529+7544G>C) c.4C>G (p.Leu2Val) c.27+7544G>C | |
| 6 | g.116125489G= | CA1657095632 | COL10A1,NT5DC1 | c.529+7544G= (n.529+7544G=) c.4C= (p.Leu2=) c.27+7544G= | |
| 6 | g.116125489G>T | CA365399020 | COL10A1,NT5DC1 | c.529+7544G>T (n.529+7544G>T) c.4C>A (p.Leu2Met) c.27+7544G>T | COSMIC |
| 6 | g.116125490C>A | CA365399047 | COL10A1,NT5DC1 | c.529+7545C>A (n.529+7545C>A) c.3G>T (p.Met1Ile) c.27+7545C>A | |
| 6 | g.116125490C>G | CA365399053 | COL10A1,NT5DC1 | c.529+7545C>G (n.529+7545C>G) c.3G>C (p.Met1Ile) c.27+7545C>G | gnomAD v4 |
| 6 | g.116125490C>T | CA365399056 | COL10A1,NT5DC1 | c.529+7545C>T (n.529+7545C>T) c.3G>A (p.Met1Ile) c.27+7545C>T | |
| 6 | g.116125491A= | CA1657095633 | COL10A1,NT5DC1 | c.529+7546A= (n.529+7546A=) c.2T= (p.Met1=) c.27+7546A= | |
| 6 | g.116125491A>C | CA365399064 | COL10A1,NT5DC1 | c.529+7546A>C (n.529+7546A>C) c.2T>G (p.Met1Arg) c.27+7546A>C | |
| 6 | g.116125491A>G | CA3968524 | COL10A1,NT5DC1 | c.529+7546A>G (n.529+7546A>G) c.2T>C (p.Met1Thr) c.27+7546A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125491A>T | CA365399065 | COL10A1,NT5DC1 | c.529+7546A>T (n.529+7546A>T) c.2T>A (p.Met1Lys) c.27+7546A>T | |
| 6 | g.116125492T>A | CA365399068 | COL10A1,NT5DC1 | c.529+7547T>A (n.529+7547T>A) c.1A>T (p.Met1Leu) c.27+7547T>A | |
| 6 | g.116125492T>C | CA365399080 | COL10A1,NT5DC1 | c.529+7547T>C (n.529+7547T>C) c.1A>G (p.Met1Val) c.27+7547T>C | dbSNP gnomAD v2 |
| 6 | g.116125492T>G | CA365399097 | COL10A1,NT5DC1 | c.529+7547T>G (n.529+7547T>G) c.1A>C (p.Met1Leu) c.27+7547T>G | |
| 6 | g.116125492T= | CA1657095634 | COL10A1,NT5DC1 | c.529+7547T= (n.529+7547T=) c.1A= (p.Met1=) c.27+7547T= | |
| 6 | g.116125493A= | CA1657095635 | COL10A1,NT5DC1 | c.529+7548A= (n.529+7548A=) c.-1T= (n.-1T=) c.27+7548A= | |
| 6 | g.116125493A>G | CA817659320 | COL10A1,NT5DC1 | c.529+7548A>G (n.529+7548A>G) c.-1T>C (n.-1T>C) c.27+7548A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116125495T>C | CA145913030 | COL10A1,NT5DC1 | c.529+7550T>C (n.529+7550T>C) c.-3A>G (n.-3A>G) c.27+7550T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116125495T>G | CA2578720642 | COL10A1,NT5DC1 | c.529+7550T>G (n.529+7550T>G) c.-3A>C (n.-3A>C) c.27+7550T>G | |
| 6 | g.116125495T= | CA1657095636 | COL10A1,NT5DC1 | c.529+7550T= (n.529+7550T=) c.-3A= (n.-3A=) c.27+7550T= | |
| 6 | g.116125496C= | CA1657095637 | COL10A1,NT5DC1 | c.529+7551C= (n.529+7551C=) c.-4G= (n.-4G=) c.27+7551C= | |
| 6 | g.116125496C>T | CA569681965 | COL10A1,NT5DC1 | c.529+7551C>T (n.529+7551C>T) c.-4G>A (n.-4G>A) c.27+7551C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125497T>G | CA569681966 | COL10A1,NT5DC1 | c.529+7552T>G (n.529+7552T>G) c.-5A>C (n.-5A>C) c.27+7552T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116125497T= | CA1657095638 | COL10A1,NT5DC1 | c.529+7552T= (n.529+7552T=) c.-5A= (n.-5A=) c.27+7552T= | |
| 6 | g.116125498C>A | CA2680093784 | COL10A1,NT5DC1 | c.529+7553C>A (n.529+7553C>A) c.-6G>T (n.-6G>T) c.27+7553C>A | gnomAD v4 |
| 6 | g.116125498C>T | CA2680093785 | COL10A1,NT5DC1 | c.529+7553C>T (n.529+7553C>T) c.-6G>A (n.-6G>A) c.27+7553C>T | gnomAD v4 |
| 6 | g.116125499A>C | CA2680093786 | COL10A1,NT5DC1 | c.529+7554A>C (n.529+7554A>C) c.-7T>G (n.-7T>G) c.27+7554A>C | gnomAD v4 |
| 6 | g.116125499A>G | CA2680093787 | COL10A1,NT5DC1 | c.529+7554A>G (n.529+7554A>G) c.-7T>C (n.-7T>C) c.27+7554A>G | gnomAD v4 |
| 6 | g.116125501A= | CA1657095639 | COL10A1,NT5DC1 | c.529+7556A= (n.529+7556A=) c.-9T= (n.-9T=) c.27+7556A= | |
| 6 | g.116125501A>G | CA3968525 | COL10A1,NT5DC1 | c.529+7556A>G (n.529+7556A>G) c.-9T>C (n.-9T>C) c.27+7556A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116125502T>C | CA3968526 | COL10A1,NT5DC1 | c.529+7557T>C (n.529+7557T>C) c.-10A>G (n.-10A>G) c.27+7557T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125502T= | CA1657095640 | COL10A1,NT5DC1 | c.529+7557T= (n.529+7557T=) c.-10A= (n.-10A=) c.27+7557T= | |
| 6 | g.116125503G>A | CA2578720643 | COL10A1,NT5DC1 | c.529+7558G>A (n.529+7558G>A) c.-11C>T (n.-11C>T) c.27+7558G>A | gnomAD v4 |
| 6 | g.116125505A>T | CA2680093788 | COL10A1,NT5DC1 | c.529+7560A>T (n.529+7560A>T) c.-13T>A (n.-13T>A) c.27+7560A>T | gnomAD v4 |
| 6 | g.116125506T>G | CA569681970 | COL10A1,NT5DC1 | c.529+7561T>G (n.529+7561T>G) c.-14A>C (n.-14A>C) c.27+7561T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116125506T= | CA1657095641 | COL10A1,NT5DC1 | c.529+7561T= (n.529+7561T=) c.-14A= (n.-14A=) c.27+7561T= | |
| 6 | g.116125508C>G | CA2578720644 | COL10A1,NT5DC1 | c.529+7563C>G (n.529+7563C>G) c.-15-1G>C (n.-15-1G>C) c.-16G>C (n.-16G>C) c.27+7563C>G | |
| 6 | g.116125510G>A | CA2512176221 | COL10A1,NT5DC1 | c.529+7565G>A (n.529+7565G>A) c.-15-3C>T (n.-15-3C>T) c.-18C>T (n.-18C>T) c.27+7565G>A | |
| 6 | g.116125511A>G | CA2680093789 | COL10A1,NT5DC1 | c.529+7566A>G (n.529+7566A>G) c.-15-4T>C (n.-15-4T>C) c.-19T>C (n.-19T>C) c.27+7566A>G | gnomAD v4 |
| 6 | g.116125513A= | CA1657095642 | COL10A1,NT5DC1 | c.529+7568A= (n.529+7568A=) c.-15-6T= (n.-15-6T=) c.-21T= (n.-21T=) c.27+7568A= | |
| 6 | g.116125513A>G | CA1657095643 | COL10A1,NT5DC1 | c.529+7568A>G (n.529+7568A>G) c.-15-6T>C (n.-15-6T>C) c.-21T>C (n.-21T>C) c.27+7568A>G | dbSNP gnomAD v4 |