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.116120088_116120166dup | CA2680093579 | COL10A1,NT5DC1 | c.529+2143_529+2221dup (n.529+2143_529+2221dup) c.1959_2037dup (p.Met680AlafsTer13) c.27+2143_27+2221dup | gnomAD v4 |
| 6 | g.116120161_116120172del | CA2695206885 | COL10A1,NT5DC1 | c.529+2216_529+2227del (n.529+2216_529+2227del) c.1948_1959del (p.Val650_Gln653del) c.27+2216_27+2227del | |
| 6 | g.116120162_116120168delinsGCCACAC | CA1657093208 | COL10A1,NT5DC1 | c.529+2217_529+2223delinsGCCACAC (n.529+2217_529+2223delinsGCCACAC) c.1948_1954delinsGTGTGGC (p.Val650=) c.27+2217_27+2223delinsGCCACAC | |
| 6 | g.116120164del | CA2697553660 | COL10A1,NT5DC1 | c.529+2219del (n.529+2219del) c.1953del (p.Trp651CysfsTer26) c.27+2219del | ClinVar |
| 6 | g.116120164_116120169del | CA915943614 | COL10A1,NT5DC1 | c.529+2219_529+2224del (n.529+2219_529+2224del) c.1948_1953del (p.Val650_Trp651del) c.27+2219_27+2224del | ClinVar dbSNP |
| 6 | g.116120164C>A | CA365386330 | COL10A1,NT5DC1 | c.529+2219C>A (n.529+2219C>A) c.1952G>T (p.Trp651Leu) c.27+2219C>A | ClinVar |
| 6 | g.116120164C= | CA1657093210 | COL10A1,NT5DC1 | c.529+2219C= (n.529+2219C=) c.1952G= (p.Trp651=) c.27+2219C= | |
| 6 | g.116120164C>G | CA365386331 | COL10A1,NT5DC1 | c.529+2219C>G (n.529+2219C>G) c.1952G>C (p.Trp651Ser) c.27+2219C>G | |
| 6 | g.116120164C>T | CA365386332 | COL10A1,NT5DC1 | c.529+2219C>T (n.529+2219C>T) c.1952G>A (p.Trp651Ter) c.27+2219C>T | ClinVar dbSNP |
| 6 | g.116120167_116120168dup | CA2580617326 | COL10A1,NT5DC1 | c.529+2222_529+2223dup (n.529+2222_529+2223dup) c.1951_1952dup (p.Trp651CysfsTer27) c.27+2222_27+2223dup | ClinVar dbSNP |
| 6 | g.116120165A= | CA1657093211 | COL10A1,NT5DC1 | c.529+2220A= (n.529+2220A=) c.1951T= (p.Trp651=) c.27+2220A= | |
| 6 | g.116120165A>C | CA365386333 | COL10A1,NT5DC1 | c.529+2220A>C (n.529+2220A>C) c.1951T>G (p.Trp651Gly) c.27+2220A>C | ClinVar |
| 6 | g.116120165A>G | CA127217 | COL10A1,NT5DC1 | c.529+2220A>G (n.529+2220A>G) c.1951T>C (p.Trp651Arg) c.27+2220A>G | ClinVar dbSNP |
| 6 | g.116120165A>T | CA365386334 | COL10A1,NT5DC1 | c.529+2220A>T (n.529+2220A>T) c.1951T>A (p.Trp651Arg) c.27+2220A>T | |
| 6 | g.116120166C>A | CA451899384 | COL10A1,NT5DC1 | c.529+2221C>A (n.529+2221C>A) c.1950G>T (p.Val650=) c.27+2221C>A | |
| 6 | g.116120166C= | CA1657093212 | COL10A1,NT5DC1 | c.529+2221C= (n.529+2221C=) c.1950G= (p.Val650=) c.27+2221C= | |
| 6 | g.116120166C>G | CA451899385 | COL10A1,NT5DC1 | c.529+2221C>G (n.529+2221C>G) c.1950G>C (p.Val650=) c.27+2221C>G | |
| 6 | g.116120166C>T | CA3968086 | COL10A1,NT5DC1 | c.529+2221C>T (n.529+2221C>T) c.1950G>A (p.Val650=) c.27+2221C>T | dbSNP ExAC gnomAD v4 |
| 6 | g.116120167A>C | CA365386335 | COL10A1,NT5DC1 | c.529+2222A>C (n.529+2222A>C) c.1949T>G (p.Val650Gly) c.27+2222A>C | |
| 6 | g.116120167A>G | CA365386336 | COL10A1,NT5DC1 | c.529+2222A>G (n.529+2222A>G) c.1949T>C (p.Val650Ala) c.27+2222A>G | |
| 6 | g.116120167A>T | CA365386337 | COL10A1,NT5DC1 | c.529+2222A>T (n.529+2222A>T) c.1949T>A (p.Val650Glu) c.27+2222A>T | |
| 6 | g.116120168C>A | CA365386340 | COL10A1,NT5DC1 | c.529+2223C>A (n.529+2223C>A) c.1948G>T (p.Val650Leu) c.27+2223C>A | |
| 6 | g.116120168C>G | CA365386339 | COL10A1,NT5DC1 | c.529+2223C>G (n.529+2223C>G) c.1948G>C (p.Val650Leu) c.27+2223C>G | |
| 6 | g.116120168C>T | CA365386338 | COL10A1,NT5DC1 | c.529+2223C>T (n.529+2223C>T) c.1948G>A (p.Val650Met) c.27+2223C>T | |
| 6 | g.116120169C>A | CA365386341 | COL10A1,NT5DC1 | c.529+2224C>A (n.529+2224C>A) c.1947G>T (p.Gln649His) c.27+2224C>A | |
| 6 | g.116120169C= | CA1657093213 | COL10A1,NT5DC1 | c.529+2224C= (n.529+2224C=) c.1947G= (p.Gln649=) c.27+2224C= | |
| 6 | g.116120169C>G | CA365386342 | COL10A1,NT5DC1 | c.529+2224C>G (n.529+2224C>G) c.1947G>C (p.Gln649His) c.27+2224C>G | dbSNP gnomAD v4 |
| 6 | g.116120169C>T | CA451899386 | COL10A1,NT5DC1 | c.529+2224C>T (n.529+2224C>T) c.1947G>A (p.Gln649=) c.27+2224C>T | |
| 6 | g.116120169_116120170insCTACAAAATGCATA | CA1657093214 | COL10A1,NT5DC1 | c.529+2224_529+2225insCTACAAAATGCATA (n.529+2224_529+2225insCTACAAAATGCATA) c.1946_1947insTATGCATTTTGTAG (p.Gln649HisfsTer33) c.27+2224_27+2225insCTACAAAATGCATA | dbSNP |
| 6 | g.116120170del | CA2580074794 | COL10A1,NT5DC1 | c.529+2225del (n.529+2225del) c.1946del (p.Gln649ArgfsTer28) c.27+2225del | ClinVar |
| 6 | g.116120170T>A | CA365386343 | COL10A1,NT5DC1 | c.529+2225T>A (n.529+2225T>A) c.1946A>T (p.Gln649Leu) c.27+2225T>A | |
| 6 | g.116120170T>C | CA365386344 | COL10A1,NT5DC1 | c.529+2225T>C (n.529+2225T>C) c.1946A>G (p.Gln649Arg) c.27+2225T>C | |
| 6 | g.116120170T>G | CA365386345 | COL10A1,NT5DC1 | c.529+2225T>G (n.529+2225T>G) c.1946A>C (p.Gln649Pro) c.27+2225T>G | |
| 6 | g.116120171G>A | CA365386346 | COL10A1,NT5DC1 | c.529+2226G>A (n.529+2226G>A) c.1945C>T (p.Gln649Ter) c.27+2226G>A | |
| 6 | g.116120171G>C | CA365386347 | COL10A1,NT5DC1 | c.529+2226G>C (n.529+2226G>C) c.1945C>G (p.Gln649Glu) c.27+2226G>C | |
| 6 | g.116120171G>T | CA365386348 | COL10A1,NT5DC1 | c.529+2226G>T (n.529+2226G>T) c.1945C>A (p.Gln649Lys) c.27+2226G>T | |
| 6 | g.116120172G>A | CA3968088 | COL10A1,NT5DC1 | c.529+2227G>A (n.529+2227G>A) c.1944C>T (p.Asp648=) c.27+2227G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120172G>C | CA365386349 | COL10A1,NT5DC1 | c.529+2227G>C (n.529+2227G>C) c.1944C>G (p.Asp648Glu) c.27+2227G>C | |
| 6 | g.116120172G= | CA1657093215 | COL10A1,NT5DC1 | c.529+2227G= (n.529+2227G=) c.1944C= (p.Asp648=) c.27+2227G= | |
| 6 | g.116120172G>T | CA3968087 | COL10A1,NT5DC1 | c.529+2227G>T (n.529+2227G>T) c.1944C>A (p.Asp648Glu) c.27+2227G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120173T>A | CA365386351 | COL10A1,NT5DC1 | c.529+2228T>A (n.529+2228T>A) c.1943A>T (p.Asp648Val) c.27+2228T>A | |
| 6 | g.116120173T>C | CA365386352 | COL10A1,NT5DC1 | c.529+2228T>C (n.529+2228T>C) c.1943A>G (p.Asp648Gly) c.27+2228T>C | |
| 6 | g.116120173T>G | CA365386350 | COL10A1,NT5DC1 | c.529+2228T>G (n.529+2228T>G) c.1943A>C (p.Asp648Ala) c.27+2228T>G | |
| 6 | g.116120174C>A | CA365386353 | COL10A1,NT5DC1 | c.529+2229C>A (n.529+2229C>A) c.1942G>T (p.Asp648Tyr) c.27+2229C>A | |
| 6 | g.116120174C= | CA1657093216 | COL10A1,NT5DC1 | c.529+2229C= (n.529+2229C=) c.1942G= (p.Asp648=) c.27+2229C= | |
| 6 | g.116120174C>G | CA365386354 | COL10A1,NT5DC1 | c.529+2229C>G (n.529+2229C>G) c.1942G>C (p.Asp648His) c.27+2229C>G | ClinVar dbSNP |
| 6 | g.116120174C>T | CA365386355 | COL10A1,NT5DC1 | c.529+2229C>T (n.529+2229C>T) c.1942G>A (p.Asp648Asn) c.27+2229C>T | |
| 6 | g.116120175A= | CA1657093217 | COL10A1,NT5DC1 | c.529+2230A= (n.529+2230A=) c.1941T= (p.Asn647=) c.27+2230A= | |
| 6 | g.116120175A>C | CA365386356 | COL10A1,NT5DC1 | c.529+2230A>C (n.529+2230A>C) c.1941T>G (p.Asn647Lys) c.27+2230A>C | |
| 6 | g.116120175A>G | CA3968089 | COL10A1,NT5DC1 | c.529+2230A>G (n.529+2230A>G) c.1941T>C (p.Asn647=) c.27+2230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120175A>T | CA365386357 | COL10A1,NT5DC1 | c.529+2230A>T (n.529+2230A>T) c.1941T>A (p.Asn647Lys) c.27+2230A>T | |
| 6 | g.116120176T>A | CA365386360 | COL10A1,NT5DC1 | c.529+2231T>A (n.529+2231T>A) c.1940A>T (p.Asn647Ile) c.27+2231T>A | |
| 6 | g.116120176T>C | CA365386358 | COL10A1,NT5DC1 | c.529+2231T>C (n.529+2231T>C) c.1940A>G (p.Asn647Ser) c.27+2231T>C | |
| 6 | g.116120176T>G | CA365386359 | COL10A1,NT5DC1 | c.529+2231T>G (n.529+2231T>G) c.1940A>C (p.Asn647Thr) c.27+2231T>G | |
| 6 | g.116120177T>A | CA365386361 | COL10A1,NT5DC1 | c.529+2232T>A (n.529+2232T>A) c.1939A>T (p.Asn647Tyr) c.27+2232T>A | |
| 6 | g.116120177T>C | CA365386362 | COL10A1,NT5DC1 | c.529+2232T>C (n.529+2232T>C) c.1939A>G (p.Asn647Asp) c.27+2232T>C | |
| 6 | g.116120177T>G | CA365386363 | COL10A1,NT5DC1 | c.529+2232T>G (n.529+2232T>G) c.1939A>C (p.Asn647His) c.27+2232T>G | |
| 6 | g.116120178T>A | CA365386364 | COL10A1,NT5DC1 | c.529+2233T>A (n.529+2233T>A) c.1938A>T (p.Glu646Asp) c.27+2233T>A | |
| 6 | g.116120178T>C | CA451899387 | COL10A1,NT5DC1 | c.529+2233T>C (n.529+2233T>C) c.1938A>G (p.Glu646=) c.27+2233T>C | |
| 6 | g.116120178T>G | CA365386365 | COL10A1,NT5DC1 | c.529+2233T>G (n.529+2233T>G) c.1938A>C (p.Glu646Asp) c.27+2233T>G | |
| 6 | g.116120179T>A | CA365386366 | COL10A1,NT5DC1 | c.529+2234T>A (n.529+2234T>A) c.1937A>T (p.Glu646Val) c.27+2234T>A | |
| 6 | g.116120179T>C | CA365386368 | COL10A1,NT5DC1 | c.529+2234T>C (n.529+2234T>C) c.1937A>G (p.Glu646Gly) c.27+2234T>C | |
| 6 | g.116120179T>G | CA365386367 | COL10A1,NT5DC1 | c.529+2234T>G (n.529+2234T>G) c.1937A>C (p.Glu646Ala) c.27+2234T>G | |
| 6 | g.116120180C>A | CA365386369 | COL10A1,NT5DC1 | c.529+2235C>A (n.529+2235C>A) c.1936G>T (p.Glu646Ter) c.27+2235C>A | |
| 6 | g.116120180C= | CA1657093218 | COL10A1,NT5DC1 | c.529+2235C= (n.529+2235C=) c.1936G= (p.Glu646=) c.27+2235C= | |
| 6 | g.116120180C>G | CA365386370 | COL10A1,NT5DC1 | c.529+2235C>G (n.529+2235C>G) c.1936G>C (p.Glu646Gln) c.27+2235C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120180C>T | CA365386371 | COL10A1,NT5DC1 | c.529+2235C>T (n.529+2235C>T) c.1936G>A (p.Glu646Lys) c.27+2235C>T | |
| 6 | g.116120181T>A | CA451899388 | COL10A1,NT5DC1 | c.529+2236T>A (n.529+2236T>A) c.1935A>T (p.Thr645=) c.27+2236T>A | |
| 6 | g.116120181T>C | CA451899389 | COL10A1,NT5DC1 | c.529+2236T>C (n.529+2236T>C) c.1935A>G (p.Thr645=) c.27+2236T>C | |
| 6 | g.116120181T>G | CA451899390 | COL10A1,NT5DC1 | c.529+2236T>G (n.529+2236T>G) c.1935A>C (p.Thr645=) c.27+2236T>G | gnomAD v4 |
| 6 | g.116120183_116120184del | CA2695206886 | COL10A1,NT5DC1 | c.529+2238_529+2239del (n.529+2238_529+2239del) c.1934_1935del (p.Thr645ArgfsTer3) c.27+2238_27+2239del | |
| 6 | g.116120182del | CA2680093583 | COL10A1,NT5DC1 | c.529+2237del (n.529+2237del) c.1934del (p.Thr645LysfsTer?) c.27+2237del | gnomAD v4 |
| 6 | g.116120182G>A | CA365386372 | COL10A1,NT5DC1 | c.529+2237G>A (n.529+2237G>A) c.1934C>T (p.Thr645Ile) c.27+2237G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120182G>C | CA365386373 | COL10A1,NT5DC1 | c.529+2237G>C (n.529+2237G>C) c.1934C>G (p.Thr645Arg) c.27+2237G>C | |
| 6 | g.116120182G= | CA1657093219 | COL10A1,NT5DC1 | c.529+2237G= (n.529+2237G=) c.1934C= (p.Thr645=) c.27+2237G= | |
| 6 | g.116120182G>T | CA145908163 | COL10A1,NT5DC1 | c.529+2237G>T (n.529+2237G>T) c.1934C>A (p.Thr645Lys) c.27+2237G>T | dbSNP |
| 6 | g.116120183T>A | CA365386374 | COL10A1,NT5DC1 | c.529+2238T>A (n.529+2238T>A) c.1933A>T (p.Thr645Ser) c.27+2238T>A | |
| 6 | g.116120183T>C | CA365386375 | COL10A1,NT5DC1 | c.529+2238T>C (n.529+2238T>C) c.1933A>G (p.Thr645Ala) c.27+2238T>C | |
| 6 | g.116120183T>G | CA365386376 | COL10A1,NT5DC1 | c.529+2238T>G (n.529+2238T>G) c.1933A>C (p.Thr645Pro) c.27+2238T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120183T= | CA1657093220 | COL10A1,NT5DC1 | c.529+2238T= (n.529+2238T=) c.1933A= (p.Thr645=) c.27+2238T= | |
| 6 | g.116120184G>A | CA451899392 | COL10A1,NT5DC1 | c.529+2239G>A (n.529+2239G>A) c.1932C>T (p.Leu644=) c.27+2239G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120184G>C | CA451899393 | COL10A1,NT5DC1 | c.529+2239G>C (n.529+2239G>C) c.1932C>G (p.Leu644=) c.27+2239G>C | |
| 6 | g.116120184G= | CA1657093221 | COL10A1,NT5DC1 | c.529+2239G= (n.529+2239G=) c.1932C= (p.Leu644=) c.27+2239G= | |
| 6 | g.116120184G>T | CA451899394 | COL10A1,NT5DC1 | c.529+2239G>T (n.529+2239G>T) c.1932C>A (p.Leu644=) c.27+2239G>T | |
| 6 | g.116120185A>C | CA365386377 | COL10A1,NT5DC1 | c.529+2240A>C (n.529+2240A>C) c.1931T>G (p.Leu644Arg) c.27+2240A>C | |
| 6 | g.116120185A>G | CA365386378 | COL10A1,NT5DC1 | c.529+2240A>G (n.529+2240A>G) c.1931T>C (p.Leu644Pro) c.27+2240A>G | |
| 6 | g.116120185A>T | CA365386379 | COL10A1,NT5DC1 | c.529+2240A>T (n.529+2240A>T) c.1931T>A (p.Leu644His) c.27+2240A>T | |
| 6 | g.116120186G>A | CA365386382 | COL10A1,NT5DC1 | c.529+2241G>A (n.529+2241G>A) c.1930C>T (p.Leu644Phe) c.27+2241G>A | |
| 6 | g.116120186G>C | CA365386381 | COL10A1,NT5DC1 | c.529+2241G>C (n.529+2241G>C) c.1930C>G (p.Leu644Val) c.27+2241G>C | |
| 6 | g.116120186G= | CA1657093222 | COL10A1,NT5DC1 | c.529+2241G= (n.529+2241G=) c.1930C= (p.Leu644=) c.27+2241G= | |
| 6 | g.116120186G>T | CA365386380 | COL10A1,NT5DC1 | c.529+2241G>T (n.529+2241G>T) c.1930C>A (p.Leu644Ile) c.27+2241G>T | dbSNP gnomAD v4 |
| 6 | g.116120187A>C | CA365386383 | COL10A1,NT5DC1 | c.529+2242A>C (n.529+2242A>C) c.1929T>G (p.Asp643Glu) c.27+2242A>C | |
| 6 | g.116120187A>G | CA451899395 | COL10A1,NT5DC1 | c.529+2242A>G (n.529+2242A>G) c.1929T>C (p.Asp643=) c.27+2242A>G | gnomAD v4 |
| 6 | g.116120187A>T | CA365386384 | COL10A1,NT5DC1 | c.529+2242A>T (n.529+2242A>T) c.1929T>A (p.Asp643Glu) c.27+2242A>T | |
| 6 | g.116120188T>A | CA365386385 | COL10A1,NT5DC1 | c.529+2243T>A (n.529+2243T>A) c.1928A>T (p.Asp643Val) c.27+2243T>A | |
| 6 | g.116120188T>C | CA365386386 | COL10A1,NT5DC1 | c.529+2243T>C (n.529+2243T>C) c.1928A>G (p.Asp643Gly) c.27+2243T>C | |
| 6 | g.116120188T>G | CA3968090 | COL10A1,NT5DC1 | c.529+2243T>G (n.529+2243T>G) c.1928A>C (p.Asp643Ala) c.27+2243T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120188T= | CA1657093223 | COL10A1,NT5DC1 | c.529+2243T= (n.529+2243T=) c.1928A= (p.Asp643=) c.27+2243T= | |
| 6 | g.116120189C>A | CA365386387 | COL10A1,NT5DC1 | c.529+2244C>A (n.529+2244C>A) c.1927G>T (p.Asp643Tyr) c.27+2244C>A | |
| 6 | g.116120189C= | CA1657093224 | COL10A1,NT5DC1 | c.529+2244C= (n.529+2244C=) c.1927G= (p.Asp643=) c.27+2244C= | |
| 6 | g.116120189C>G | CA3968092 | COL10A1,NT5DC1 | c.529+2244C>G (n.529+2244C>G) c.1927G>C (p.Asp643His) c.27+2244C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120189C>T | CA3968091 | COL10A1,NT5DC1 | c.529+2244C>T (n.529+2244C>T) c.1927G>A (p.Asp643Asn) c.27+2244C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120190G>A | CA451899399 | COL10A1,NT5DC1 | c.529+2245G>A (n.529+2245G>A) c.1926C>T (p.Ile642=) c.27+2245G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120190G>C | CA365386389 | COL10A1,NT5DC1 | c.529+2245G>C (n.529+2245G>C) c.1926C>G (p.Ile642Met) c.27+2245G>C | |
| 6 | g.116120190G= | CA1657093225 | COL10A1,NT5DC1 | c.529+2245G= (n.529+2245G=) c.1926C= (p.Ile642=) c.27+2245G= | |
| 6 | g.116120190G>T | CA451899400 | COL10A1,NT5DC1 | c.529+2245G>T (n.529+2245G>T) c.1926C>A (p.Ile642=) c.27+2245G>T | COSMIC |
| 6 | g.116120191A>C | CA365386391 | COL10A1,NT5DC1 | c.529+2246A>C (n.529+2246A>C) c.1925T>G (p.Ile642Ser) c.27+2246A>C | ClinVar |
| 6 | g.116120191A>G | CA365386392 | COL10A1,NT5DC1 | c.529+2246A>G (n.529+2246A>G) c.1925T>C (p.Ile642Thr) c.27+2246A>G | |
| 6 | g.116120191A>T | CA365386393 | COL10A1,NT5DC1 | c.529+2246A>T (n.529+2246A>T) c.1925T>A (p.Ile642Asn) c.27+2246A>T | |
| 6 | g.116120192T>A | CA365386394 | COL10A1,NT5DC1 | c.529+2247T>A (n.529+2247T>A) c.1924A>T (p.Ile642Phe) c.27+2247T>A | |
| 6 | g.116120192T>C | CA365386395 | COL10A1,NT5DC1 | c.529+2247T>C (n.529+2247T>C) c.1924A>G (p.Ile642Val) c.27+2247T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120192T>G | CA365386397 | COL10A1,NT5DC1 | c.529+2247T>G (n.529+2247T>G) c.1924A>C (p.Ile642Leu) c.27+2247T>G | |
| 6 | g.116120192T= | CA1657093226 | COL10A1,NT5DC1 | c.529+2247T= (n.529+2247T=) c.1924A= (p.Ile642=) c.27+2247T= | |
| 6 | g.116120193G>A | CA451899404 | COL10A1,NT5DC1 | c.529+2248G>A (n.529+2248G>A) c.1923C>T (p.Ile641=) c.27+2248G>A | |
| 6 | g.116120193G>C | CA365386398 | COL10A1,NT5DC1 | c.529+2248G>C (n.529+2248G>C) c.1923C>G (p.Ile641Met) c.27+2248G>C | gnomAD v4 |
| 6 | g.116120193G>T | CA451899405 | COL10A1,NT5DC1 | c.529+2248G>T (n.529+2248G>T) c.1923C>A (p.Ile641=) c.27+2248G>T | |
| 6 | g.116120194A>C | CA365386399 | COL10A1,NT5DC1 | c.529+2249A>C (n.529+2249A>C) c.1922T>G (p.Ile641Ser) c.27+2249A>C | |
| 6 | g.116120194A>G | CA365386400 | COL10A1,NT5DC1 | c.529+2249A>G (n.529+2249A>G) c.1922T>C (p.Ile641Thr) c.27+2249A>G | gnomAD v4 |
| 6 | g.116120194A>T | CA365386401 | COL10A1,NT5DC1 | c.529+2249A>T (n.529+2249A>T) c.1922T>A (p.Ile641Asn) c.27+2249A>T | |
| 6 | g.116120195T>A | CA365386402 | COL10A1,NT5DC1 | c.529+2250T>A (n.529+2250T>A) c.1921A>T (p.Ile641Phe) c.27+2250T>A | |
| 6 | g.116120195T>C | CA365386403 | COL10A1,NT5DC1 | c.529+2250T>C (n.529+2250T>C) c.1921A>G (p.Ile641Val) c.27+2250T>C | |
| 6 | g.116120195T>G | CA365386404 | COL10A1,NT5DC1 | c.529+2250T>G (n.529+2250T>G) c.1921A>C (p.Ile641Leu) c.27+2250T>G | |
| 6 | g.116120196G>A | CA451899409 | COL10A1,NT5DC1 | c.529+2251G>A (n.529+2251G>A) c.1920C>T (p.Ala640=) c.27+2251G>A | |
| 6 | g.116120196G>C | CA451899411 | COL10A1,NT5DC1 | c.529+2251G>C (n.529+2251G>C) c.1920C>G (p.Ala640=) c.27+2251G>C | |
| 6 | g.116120196G>T | CA451899410 | COL10A1,NT5DC1 | c.529+2251G>T (n.529+2251G>T) c.1920C>A (p.Ala640=) c.27+2251G>T | |
| 6 | g.116120197G>A | CA3968093 | COL10A1,NT5DC1 | c.529+2252G>A (n.529+2252G>A) c.1919C>T (p.Ala640Val) c.27+2252G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120197G>C | CA365386406 | COL10A1,NT5DC1 | c.529+2252G>C (n.529+2252G>C) c.1919C>G (p.Ala640Gly) c.27+2252G>C | |
| 6 | g.116120197G= | CA1657093227 | COL10A1,NT5DC1 | c.529+2252G= (n.529+2252G=) c.1919C= (p.Ala640=) c.27+2252G= | |
| 6 | g.116120197G>T | CA365386405 | COL10A1,NT5DC1 | c.529+2252G>T (n.529+2252G>T) c.1919C>A (p.Ala640Asp) c.27+2252G>T | |
| 6 | g.116120198C>A | CA365386408 | COL10A1,NT5DC1 | c.529+2253C>A (n.529+2253C>A) c.1918G>T (p.Ala640Ser) c.27+2253C>A | |
| 6 | g.116120198C= | CA1657093228 | COL10A1,NT5DC1 | c.529+2253C= (n.529+2253C=) c.1918G= (p.Ala640=) c.27+2253C= | |
| 6 | g.116120198C>G | CA365386410 | COL10A1,NT5DC1 | c.529+2253C>G (n.529+2253C>G) c.1918G>C (p.Ala640Pro) c.27+2253C>G | ClinVar |
| 6 | g.116120198C>T | CA365386411 | COL10A1,NT5DC1 | c.529+2253C>T (n.529+2253C>T) c.1918G>A (p.Ala640Thr) c.27+2253C>T | dbSNP gnomAD v4 |
| 6 | g.116120199A>C | CA365386412 | COL10A1,NT5DC1 | c.529+2254A>C (n.529+2254A>C) c.1917T>G (p.Ser639Arg) c.27+2254A>C | |
| 6 | g.116120199A>G | CA451899412 | COL10A1,NT5DC1 | c.529+2254A>G (n.529+2254A>G) c.1917T>C (p.Ser639=) c.27+2254A>G | gnomAD v4 |
| 6 | g.116120199A>T | CA365386414 | COL10A1,NT5DC1 | c.529+2254A>T (n.529+2254A>T) c.1917T>A (p.Ser639Arg) c.27+2254A>T | |
| 6 | g.116120200C>A | CA365386415 | COL10A1,NT5DC1 | c.529+2255C>A (n.529+2255C>A) c.1916G>T (p.Ser639Ile) c.27+2255C>A | |
| 6 | g.116120200C= | CA1657093229 | COL10A1,NT5DC1 | c.529+2255C= (n.529+2255C=) c.1916G= (p.Ser639=) c.27+2255C= | |
| 6 | g.116120200C>G | CA365386416 | COL10A1,NT5DC1 | c.529+2255C>G (n.529+2255C>G) c.1916G>C (p.Ser639Thr) c.27+2255C>G | ClinVar dbSNP |
| 6 | g.116120200C>T | CA365386418 | COL10A1,NT5DC1 | c.529+2255C>T (n.529+2255C>T) c.1916G>A (p.Ser639Asn) c.27+2255C>T | gnomAD v4 |
| 6 | g.116120201T>A | CA365386419 | COL10A1,NT5DC1 | c.529+2256T>A (n.529+2256T>A) c.1915A>T (p.Ser639Cys) c.27+2256T>A | |
| 6 | g.116120201T>C | CA365386421 | COL10A1,NT5DC1 | c.529+2256T>C (n.529+2256T>C) c.1915A>G (p.Ser639Gly) c.27+2256T>C | |
| 6 | g.116120201T>G | CA365386423 | COL10A1,NT5DC1 | c.529+2256T>G (n.529+2256T>G) c.1915A>C (p.Ser639Arg) c.27+2256T>G | |
| 6 | g.116120201_116120202delinsTC | CA1657093230 | COL10A1,NT5DC1 | c.529+2256_529+2257delinsTC (n.529+2256_529+2257delinsTC) c.1914_1915delinsGA (p.Gly638=) c.27+2256_27+2257delinsTC | |
| 6 | g.116120201_116120212delinsA | CA2695206887 | COL10A1,NT5DC1 | c.529+2256_529+2267delinsA (n.529+2256_529+2267delinsA) c.1904_1915delinsT (p.Gln635LeufsTer10) c.27+2256_27+2267delinsA | |
| 6 | g.116120202C>A | CA451899416 | COL10A1,NT5DC1 | c.529+2257C>A (n.529+2257C>A) c.1914G>T (p.Gly638=) c.27+2257C>A | |
| 6 | g.116120202C>G | CA451899417 | COL10A1,NT5DC1 | c.529+2257C>G (n.529+2257C>G) c.1914G>C (p.Gly638=) c.27+2257C>G | |
| 6 | g.116120202C>T | CA451899418 | COL10A1,NT5DC1 | c.529+2257C>T (n.529+2257C>T) c.1914G>A (p.Gly638=) c.27+2257C>T | COSMIC |
| 6 | g.116120204del | CA915943615 | COL10A1,NT5DC1 | c.529+2259del (n.529+2259del) c.1914del (p.Ser639ValfsTer?) c.27+2259del | ClinVar dbSNP |
| 6 | g.116120203C>A | CA365386424 | COL10A1,NT5DC1 | c.529+2258C>A (n.529+2258C>A) c.1913G>T (p.Gly638Val) c.27+2258C>A | |
| 6 | g.116120203C= | CA1657093231 | COL10A1,NT5DC1 | c.529+2258C= (n.529+2258C=) c.1913G= (p.Gly638=) c.27+2258C= | |
| 6 | g.116120203C>G | CA365386427 | COL10A1,NT5DC1 | c.529+2258C>G (n.529+2258C>G) c.1913G>C (p.Gly638Ala) c.27+2258C>G | |
| 6 | g.116120203C>T | CA365386426 | COL10A1,NT5DC1 | c.529+2258C>T (n.529+2258C>T) c.1913G>A (p.Gly638Glu) c.27+2258C>T | dbSNP |
| 6 | g.116120204C>A | CA365386428 | COL10A1,NT5DC1 | c.529+2259C>A (n.529+2259C>A) c.1912G>T (p.Gly638Trp) c.27+2259C>A | |
| 6 | g.116120204C>G | CA365386430 | COL10A1,NT5DC1 | c.529+2259C>G (n.529+2259C>G) c.1912G>C (p.Gly638Arg) c.27+2259C>G | |
| 6 | g.116120204C>T | CA365386431 | COL10A1,NT5DC1 | c.529+2259C>T (n.529+2259C>T) c.1912G>A (p.Gly638Arg) c.27+2259C>T | |
| 6 | g.116120205T>A | CA451899419 | COL10A1,NT5DC1 | c.529+2260T>A (n.529+2260T>A) c.1911A>T (p.Ser637=) c.27+2260T>A | gnomAD v4 |
| 6 | g.116120205T>C | CA451899420 | COL10A1,NT5DC1 | c.529+2260T>C (n.529+2260T>C) c.1911A>G (p.Ser637=) c.27+2260T>C | |
| 6 | g.116120205T>G | CA451899422 | COL10A1,NT5DC1 | c.529+2260T>G (n.529+2260T>G) c.1911A>C (p.Ser637=) c.27+2260T>G | |
| 6 | g.116120206G>A | CA365386432 | COL10A1,NT5DC1 | c.529+2261G>A (n.529+2261G>A) c.1910C>T (p.Ser637Leu) c.27+2261G>A | |
| 6 | g.116120206G>C | CA365386433 | COL10A1,NT5DC1 | c.529+2261G>C (n.529+2261G>C) c.1910C>G (p.Ser637Ter) c.27+2261G>C | |
| 6 | g.116120206G>T | CA365386434 | COL10A1,NT5DC1 | c.529+2261G>T (n.529+2261G>T) c.1910C>A (p.Ser637Ter) c.27+2261G>T | |
| 6 | g.116120207A>C | CA365386435 | COL10A1,NT5DC1 | c.529+2262A>C (n.529+2262A>C) c.1909T>G (p.Ser637Ala) c.27+2262A>C | gnomAD v4 |
| 6 | g.116120207A>G | CA365386436 | COL10A1,NT5DC1 | c.529+2262A>G (n.529+2262A>G) c.1909T>C (p.Ser637Pro) c.27+2262A>G | |
| 6 | g.116120207A>T | CA365386437 | COL10A1,NT5DC1 | c.529+2262A>T (n.529+2262A>T) c.1909T>A (p.Ser637Thr) c.27+2262A>T | |
| 6 | g.116120208del | CA2695206888 | COL10A1,NT5DC1 | c.529+2263del (n.529+2263del) c.1909del (p.Ser637GlnfsTer?) c.27+2263del | |
| 6 | g.116120208A>C | CA451899423 | COL10A1,NT5DC1 | c.529+2263A>C (n.529+2263A>C) c.1908T>G (p.Ala636=) c.27+2263A>C | |
| 6 | g.116120208A>G | CA451899424 | COL10A1,NT5DC1 | c.529+2263A>G (n.529+2263A>G) c.1908T>C (p.Ala636=) c.27+2263A>G | |
| 6 | g.116120208A>T | CA451899427 | COL10A1,NT5DC1 | c.529+2263A>T (n.529+2263A>T) c.1908T>A (p.Ala636=) c.27+2263A>T | |
| 6 | g.116120209G>A | CA365386438 | COL10A1,NT5DC1 | c.529+2264G>A (n.529+2264G>A) c.1907C>T (p.Ala636Val) c.27+2264G>A | gnomAD v4 |
| 6 | g.116120209G>C | CA365386439 | COL10A1,NT5DC1 | c.529+2264G>C (n.529+2264G>C) c.1907C>G (p.Ala636Gly) c.27+2264G>C | |
| 6 | g.116120209G>T | CA365386441 | COL10A1,NT5DC1 | c.529+2264G>T (n.529+2264G>T) c.1907C>A (p.Ala636Asp) c.27+2264G>T | gnomAD v4 |
| 6 | g.116120210C>A | CA365386445 | COL10A1,NT5DC1 | c.529+2265C>A (n.529+2265C>A) c.1906G>T (p.Ala636Ser) c.27+2265C>A | |
| 6 | g.116120210C>G | CA365386442 | COL10A1,NT5DC1 | c.529+2265C>G (n.529+2265C>G) c.1906G>C (p.Ala636Pro) c.27+2265C>G | |
| 6 | g.116120210C>T | CA365386443 | COL10A1,NT5DC1 | c.529+2265C>T (n.529+2265C>T) c.1906G>A (p.Ala636Thr) c.27+2265C>T | |
| 6 | g.116120211C>A | CA365386447 | COL10A1,NT5DC1 | c.529+2266C>A (n.529+2266C>A) c.1905G>T (p.Gln635His) c.27+2266C>A | |
| 6 | g.116120211C>G | CA365386450 | COL10A1,NT5DC1 | c.529+2266C>G (n.529+2266C>G) c.1905G>C (p.Gln635His) c.27+2266C>G | |
| 6 | g.116120211C>T | CA451899431 | COL10A1,NT5DC1 | c.529+2266C>T (n.529+2266C>T) c.1905G>A (p.Gln635=) c.27+2266C>T | |
| 6 | g.116120212T>A | CA365386452 | COL10A1,NT5DC1 | c.529+2267T>A (n.529+2267T>A) c.1904A>T (p.Gln635Leu) c.27+2267T>A | COSMIC |
| 6 | g.116120212T>C | CA365386454 | COL10A1,NT5DC1 | c.529+2267T>C (n.529+2267T>C) c.1904A>G (p.Gln635Arg) c.27+2267T>C | |
| 6 | g.116120212T>G | CA365386455 | COL10A1,NT5DC1 | c.529+2267T>G (n.529+2267T>G) c.1904A>C (p.Gln635Pro) c.27+2267T>G | |
| 6 | g.116120213G>A | CA365386456 | COL10A1,NT5DC1 | c.529+2268G>A (n.529+2268G>A) c.1903C>T (p.Gln635Ter) c.27+2268G>A | |
| 6 | g.116120213G>C | CA365386457 | COL10A1,NT5DC1 | c.529+2268G>C (n.529+2268G>C) c.1903C>G (p.Gln635Glu) c.27+2268G>C | |
| 6 | g.116120213G>T | CA365386459 | COL10A1,NT5DC1 | c.529+2268G>T (n.529+2268G>T) c.1903C>A (p.Gln635Lys) c.27+2268G>T | |
| 6 | g.116120214A= | CA1657093232 | COL10A1,NT5DC1 | c.529+2269A= (n.529+2269A=) c.1902T= (p.Asp634=) c.27+2269A= | |
| 6 | g.116120214A>C | CA365386461 | COL10A1,NT5DC1 | c.529+2269A>C (n.529+2269A>C) c.1902T>G (p.Asp634Glu) c.27+2269A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120214A>G | CA451899436 | COL10A1,NT5DC1 | c.529+2269A>G (n.529+2269A>G) c.1902T>C (p.Asp634=) c.27+2269A>G | |
| 6 | g.116120214A>T | CA365386468 | COL10A1,NT5DC1 | c.529+2269A>T (n.529+2269A>T) c.1902T>A (p.Asp634Glu) c.27+2269A>T | |
| 6 | g.116120215T>A | CA365386475 | COL10A1,NT5DC1 | c.529+2270T>A (n.529+2270T>A) c.1901A>T (p.Asp634Val) c.27+2270T>A | |
| 6 | g.116120215T>C | CA365386472 | COL10A1,NT5DC1 | c.529+2270T>C (n.529+2270T>C) c.1901A>G (p.Asp634Gly) c.27+2270T>C | gnomAD v4 |
| 6 | g.116120215T>G | CA365386470 | COL10A1,NT5DC1 | c.529+2270T>G (n.529+2270T>G) c.1901A>C (p.Asp634Ala) c.27+2270T>G | |
| 6 | g.116120216C>A | CA365386476 | COL10A1,NT5DC1 | c.529+2271C>A (n.529+2271C>A) c.1900G>T (p.Asp634Tyr) c.27+2271C>A | |
| 6 | g.116120216C>G | CA365386478 | COL10A1,NT5DC1 | c.529+2271C>G (n.529+2271C>G) c.1900G>C (p.Asp634His) c.27+2271C>G | |
| 6 | g.116120216C>T | CA365386477 | COL10A1,NT5DC1 | c.529+2271C>T (n.529+2271C>T) c.1900G>A (p.Asp634Asn) c.27+2271C>T | |
| 6 | g.116120217del | CA2580074795 | COL10A1,NT5DC1 | c.529+2272del (n.529+2272del) c.1900del (p.Asp634IlefsTer?) c.27+2272del | ClinVar |
| 6 | g.116120217C>A | CA451899437 | COL10A1,NT5DC1 | c.529+2272C>A (n.529+2272C>A) c.1899G>T (p.Leu633=) c.27+2272C>A | |
| 6 | g.116120217C= | CA1657093233 | COL10A1,NT5DC1 | c.529+2272C= (n.529+2272C=) c.1899G= (p.Leu633=) c.27+2272C= | |
| 6 | g.116120217C>G | CA451899439 | COL10A1,NT5DC1 | c.529+2272C>G (n.529+2272C>G) c.1899G>C (p.Leu633=) c.27+2272C>G | gnomAD v4 |
| 6 | g.116120217C>T | CA145908196 | COL10A1,NT5DC1 | c.529+2272C>T (n.529+2272C>T) c.1899G>A (p.Leu633=) c.27+2272C>T | dbSNP |
| 6 | g.116120218A= | CA1657093234 | COL10A1,NT5DC1 | c.529+2273A= (n.529+2273A=) c.1898T= (p.Leu633=) c.27+2273A= | |
| 6 | g.116120218A>C | CA365386479 | COL10A1,NT5DC1 | c.529+2273A>C (n.529+2273A>C) c.1898T>G (p.Leu633Arg) c.27+2273A>C | gnomAD v4 |
| 6 | g.116120218A>G | CA365386480 | COL10A1,NT5DC1 | c.529+2273A>G (n.529+2273A>G) c.1898T>C (p.Leu633Pro) c.27+2273A>G | dbSNP gnomAD v4 |
| 6 | g.116120218A>T | CA365386481 | COL10A1,NT5DC1 | c.529+2273A>T (n.529+2273A>T) c.1898T>A (p.Leu633Gln) c.27+2273A>T | |
| 6 | g.116120219G>A | CA451899441 | COL10A1,NT5DC1 | c.529+2274G>A (n.529+2274G>A) c.1897C>T (p.Leu633=) c.27+2274G>A | |
| 6 | g.116120219G>C | CA365386482 | COL10A1,NT5DC1 | c.529+2274G>C (n.529+2274G>C) c.1897C>G (p.Leu633Val) c.27+2274G>C | |
| 6 | g.116120219G>T | CA365386483 | COL10A1,NT5DC1 | c.529+2274G>T (n.529+2274G>T) c.1897C>A (p.Leu633Met) c.27+2274G>T | |
| 6 | g.116120220del | CA2573140415 | COL10A1,NT5DC1 | c.529+2275del (n.529+2275del) c.1897del (p.Leu633TrpfsTer?) c.27+2275del | ClinVar dbSNP |
| 6 | g.116120220G>A | CA451899442 | COL10A1,NT5DC1 | c.529+2275G>A (n.529+2275G>A) c.1896C>T (p.Tyr632=) c.27+2275G>A | gnomAD v4 |
| 6 | g.116120220G>C | CA365386484 | COL10A1,NT5DC1 | c.529+2275G>C (n.529+2275G>C) c.1896C>G (p.Tyr632Ter) c.27+2275G>C | ClinVar dbSNP |
| 6 | g.116120220G= | CA1657093235 | COL10A1,NT5DC1 | c.529+2275G= (n.529+2275G=) c.1896C= (p.Tyr632=) c.27+2275G= | |
| 6 | g.116120220G>T | CA127221 | COL10A1,NT5DC1 | c.529+2275G>T (n.529+2275G>T) c.1896C>A (p.Tyr632Ter) c.27+2275G>T | ClinVar dbSNP |
| 6 | g.116120221T>A | CA365386485 | COL10A1,NT5DC1 | c.529+2276T>A (n.529+2276T>A) c.1895A>T (p.Tyr632Phe) c.27+2276T>A | dbSNP gnomAD v4 |
| 6 | g.116120221T>C | CA3968094 | COL10A1,NT5DC1 | c.529+2276T>C (n.529+2276T>C) c.1895A>G (p.Tyr632Cys) c.27+2276T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120221T>G | CA365386486 | COL10A1,NT5DC1 | c.529+2276T>G (n.529+2276T>G) c.1895A>C (p.Tyr632Ser) c.27+2276T>G | |
| 6 | g.116120221T= | CA1657093236 | COL10A1,NT5DC1 | c.529+2276T= (n.529+2276T=) c.1895A= (p.Tyr632=) c.27+2276T= | |
| 6 | g.116120221_116120222dup | CA2695206889 | COL10A1,NT5DC1 | c.529+2276_529+2277dup (n.529+2276_529+2277dup) c.1894_1895dup (p.Leu633ThrfsTer?) c.27+2276_27+2277dup | |
| 6 | g.116120222A>C | CA365386489 | COL10A1,NT5DC1 | c.529+2277A>C (n.529+2277A>C) c.1894T>G (p.Tyr632Asp) c.27+2277A>C | gnomAD v4 |
| 6 | g.116120222A>G | CA365386488 | COL10A1,NT5DC1 | c.529+2277A>G (n.529+2277A>G) c.1894T>C (p.Tyr632His) c.27+2277A>G | |
| 6 | g.116120222A>T | CA365386487 | COL10A1,NT5DC1 | c.529+2277A>T (n.529+2277A>T) c.1894T>A (p.Tyr632Asn) c.27+2277A>T | |
| 6 | g.116120223G>A | CA451899446 | COL10A1,NT5DC1 | c.529+2278G>A (n.529+2278G>A) c.1893C>T (p.Gly631=) c.27+2278G>A | |
| 6 | g.116120223G>C | CA451899445 | COL10A1,NT5DC1 | c.529+2278G>C (n.529+2278G>C) c.1893C>G (p.Gly631=) c.27+2278G>C | |
| 6 | g.116120223G>T | CA451899443 | COL10A1,NT5DC1 | c.529+2278G>T (n.529+2278G>T) c.1893C>A (p.Gly631=) c.27+2278G>T | |
| 6 | g.116120224C>A | CA365386490 | COL10A1,NT5DC1 | c.529+2279C>A (n.529+2279C>A) c.1892G>T (p.Gly631Val) c.27+2279C>A | |
| 6 | g.116120224C= | CA1657093237 | COL10A1,NT5DC1 | c.529+2279C= (n.529+2279C=) c.1892G= (p.Gly631=) c.27+2279C= | |
| 6 | g.116120224C>G | CA145908232 | COL10A1,NT5DC1 | c.529+2279C>G (n.529+2279C>G) c.1892G>C (p.Gly631Ala) c.27+2279C>G | dbSNP gnomAD v2 |
| 6 | g.116120224C>T | CA365386491 | COL10A1,NT5DC1 | c.529+2279C>T (n.529+2279C>T) c.1892G>A (p.Gly631Asp) c.27+2279C>T | |
| 6 | g.116120225C>A | CA365386492 | COL10A1,NT5DC1 | c.529+2280C>A (n.529+2280C>A) c.1891G>T (p.Gly631Cys) c.27+2280C>A | COSMIC |
| 6 | g.116120225C>G | CA365386493 | COL10A1,NT5DC1 | c.529+2280C>G (n.529+2280C>G) c.1891G>C (p.Gly631Arg) c.27+2280C>G | |
| 6 | g.116120225C>T | CA365386495 | COL10A1,NT5DC1 | c.529+2280C>T (n.529+2280C>T) c.1891G>A (p.Gly631Ser) c.27+2280C>T | COSMIC |
| 6 | g.116120226T>A | CA365386496 | COL10A1,NT5DC1 | c.529+2281T>A (n.529+2281T>A) c.1890A>T (p.Lys630Asn) c.27+2281T>A | |
| 6 | g.116120226T>C | CA451899449 | COL10A1,NT5DC1 | c.529+2281T>C (n.529+2281T>C) c.1890A>G (p.Lys630=) c.27+2281T>C | |
| 6 | g.116120226T>G | CA365386497 | COL10A1,NT5DC1 | c.529+2281T>G (n.529+2281T>G) c.1890A>C (p.Lys630Asn) c.27+2281T>G | |
| 6 | g.116120228del | CA2573140416 | COL10A1,NT5DC1 | c.529+2283del (n.529+2283del) c.1890del (p.Gly631AlafsTer?) c.27+2283del | ClinVar dbSNP |
| 6 | g.116120227T>A | CA365386500 | COL10A1,NT5DC1 | c.529+2282T>A (n.529+2282T>A) c.1889A>T (p.Lys630Ile) c.27+2282T>A | dbSNP |
| 6 | g.116120227T>C | CA365386501 | COL10A1,NT5DC1 | c.529+2282T>C (n.529+2282T>C) c.1889A>G (p.Lys630Arg) c.27+2282T>C | |
| 6 | g.116120227T>G | CA365386502 | COL10A1,NT5DC1 | c.529+2282T>G (n.529+2282T>G) c.1889A>C (p.Lys630Thr) c.27+2282T>G | |
| 6 | g.116120227T= | CA1657093238 | COL10A1,NT5DC1 | c.529+2282T= (n.529+2282T=) c.1889A= (p.Lys630=) c.27+2282T= | |
| 6 | g.116120228T>A | CA365386506 | COL10A1,NT5DC1 | c.529+2283T>A (n.529+2283T>A) c.1888A>T (p.Lys630Ter) c.27+2283T>A | |
| 6 | g.116120228T>C | CA3968095 | COL10A1,NT5DC1 | c.529+2283T>C (n.529+2283T>C) c.1888A>G (p.Lys630Glu) c.27+2283T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120228T>G | CA365386504 | COL10A1,NT5DC1 | c.529+2283T>G (n.529+2283T>G) c.1888A>C (p.Lys630Gln) c.27+2283T>G | |
| 6 | g.116120228T= | CA1657093239 | COL10A1,NT5DC1 | c.529+2283T= (n.529+2283T=) c.1888A= (p.Lys630=) c.27+2283T= | |
| 6 | g.116120229G>A | CA451899451 | COL10A1,NT5DC1 | c.529+2284G>A (n.529+2284G>A) c.1887C>T (p.Thr629=) c.27+2284G>A | |
| 6 | g.116120229G>C | CA451899453 | COL10A1,NT5DC1 | c.529+2284G>C (n.529+2284G>C) c.1887C>G (p.Thr629=) c.27+2284G>C | |
| 6 | g.116120229G>T | CA451899452 | COL10A1,NT5DC1 | c.529+2284G>T (n.529+2284G>T) c.1887C>A (p.Thr629=) c.27+2284G>T | ClinVar dbSNP |
| 6 | g.116120230G>A | CA145908260 | COL10A1,NT5DC1 | c.529+2285G>A (n.529+2285G>A) c.1886C>T (p.Thr629Ile) c.27+2285G>A | dbSNP |
| 6 | g.116120230G>C | CA365386512 | COL10A1,NT5DC1 | c.529+2285G>C (n.529+2285G>C) c.1886C>G (p.Thr629Ser) c.27+2285G>C | |
| 6 | g.116120230G= | CA1657093240 | COL10A1,NT5DC1 | c.529+2285G= (n.529+2285G=) c.1886C= (p.Thr629=) c.27+2285G= | |
| 6 | g.116120230G>T | CA365386514 | COL10A1,NT5DC1 | c.529+2285G>T (n.529+2285G>T) c.1886C>A (p.Thr629Asn) c.27+2285G>T | gnomAD v4 |
| 6 | g.116120231T>A | CA365386515 | COL10A1,NT5DC1 | c.529+2286T>A (n.529+2286T>A) c.1885A>T (p.Thr629Ser) c.27+2286T>A | |
| 6 | g.116120231T>C | CA365386517 | COL10A1,NT5DC1 | c.529+2286T>C (n.529+2286T>C) c.1885A>G (p.Thr629Ala) c.27+2286T>C | gnomAD v4 |
| 6 | g.116120231T>G | CA365386519 | COL10A1,NT5DC1 | c.529+2286T>G (n.529+2286T>G) c.1885A>C (p.Thr629Pro) c.27+2286T>G | |
| 6 | g.116120232G>A | CA451899455 | COL10A1,NT5DC1 | c.529+2287G>A (n.529+2287G>A) c.1884C>T (p.Tyr628=) c.27+2287G>A | gnomAD v4 |
| 6 | g.116120232G>C | CA127213 | COL10A1,NT5DC1 | c.529+2287G>C (n.529+2287G>C) c.1884C>G (p.Tyr628Ter) c.27+2287G>C | ClinVar dbSNP |
| 6 | g.116120232G= | CA1657093241 | COL10A1,NT5DC1 | c.529+2287G= (n.529+2287G=) c.1884C= (p.Tyr628=) c.27+2287G= | |
| 6 | g.116120232G>T | CA365386521 | COL10A1,NT5DC1 | c.529+2287G>T (n.529+2287G>T) c.1884C>A (p.Tyr628Ter) c.27+2287G>T | |
| 6 | g.116120233T>A | CA365386523 | COL10A1,NT5DC1 | c.529+2288T>A (n.529+2288T>A) c.1883A>T (p.Tyr628Phe) c.27+2288T>A | |
| 6 | g.116120233T>C | CA365386525 | COL10A1,NT5DC1 | c.529+2288T>C (n.529+2288T>C) c.1883A>G (p.Tyr628Cys) c.27+2288T>C | |
| 6 | g.116120233T>G | CA365386526 | COL10A1,NT5DC1 | c.529+2288T>G (n.529+2288T>G) c.1883A>C (p.Tyr628Ser) c.27+2288T>G | |
| 6 | g.116120234A= | CA1657093242 | COL10A1,NT5DC1 | c.529+2289A= (n.529+2289A=) c.1882T= (p.Tyr628=) c.27+2289A= | |
| 6 | g.116120234A>C | CA365386531 | COL10A1,NT5DC1 | c.529+2289A>C (n.529+2289A>C) c.1882T>G (p.Tyr628Asp) c.27+2289A>C | |
| 6 | g.116120234A>G | CA3968096 | COL10A1,NT5DC1 | c.529+2289A>G (n.529+2289A>G) c.1882T>C (p.Tyr628His) c.27+2289A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120234A>T | CA365386528 | COL10A1,NT5DC1 | c.529+2289A>T (n.529+2289A>T) c.1882T>A (p.Tyr628Asn) c.27+2289A>T | |
| 6 | g.116120235T>A | CA365386533 | COL10A1,NT5DC1 | c.529+2290T>A (n.529+2290T>A) c.1881A>T (p.Glu627Asp) c.27+2290T>A | |
| 6 | g.116120235T>C | CA451899458 | COL10A1,NT5DC1 | c.529+2290T>C (n.529+2290T>C) c.1881A>G (p.Glu627=) c.27+2290T>C | |
| 6 | g.116120235T>G | CA365386535 | COL10A1,NT5DC1 | c.529+2290T>G (n.529+2290T>G) c.1881A>C (p.Glu627Asp) c.27+2290T>G | |
| 6 | g.116120236T>A | CA365386537 | COL10A1,NT5DC1 | c.529+2291T>A (n.529+2291T>A) c.1880A>T (p.Glu627Val) c.27+2291T>A | |
| 6 | g.116120236T>C | CA365386538 | COL10A1,NT5DC1 | c.529+2291T>C (n.529+2291T>C) c.1880A>G (p.Glu627Gly) c.27+2291T>C | |
| 6 | g.116120236T>G | CA365386539 | COL10A1,NT5DC1 | c.529+2291T>G (n.529+2291T>G) c.1880A>C (p.Glu627Ala) c.27+2291T>G | |
| 6 | g.116120237C>A | CA365386541 | COL10A1,NT5DC1 | c.529+2292C>A (n.529+2292C>A) c.1879G>T (p.Glu627Ter) c.27+2292C>A | |
| 6 | g.116120237C= | CA1657093243 | COL10A1,NT5DC1 | c.529+2292C= (n.529+2292C=) c.1879G= (p.Glu627=) c.27+2292C= | |
| 6 | g.116120237C>G | CA365386543 | COL10A1,NT5DC1 | c.529+2292C>G (n.529+2292C>G) c.1879G>C (p.Glu627Gln) c.27+2292C>G | |
| 6 | g.116120237C>T | CA365386549 | COL10A1,NT5DC1 | c.529+2292C>T (n.529+2292C>T) c.1879G>A (p.Glu627Lys) c.27+2292C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120238A>C | CA365386551 | COL10A1,NT5DC1 | c.529+2293A>C (n.529+2293A>C) c.1878T>G (p.Asp626Glu) c.27+2293A>C | |
| 6 | g.116120238A>G | CA451899459 | COL10A1,NT5DC1 | c.529+2293A>G (n.529+2293A>G) c.1878T>C (p.Asp626=) c.27+2293A>G | |
| 6 | g.116120238A>T | CA365386552 | COL10A1,NT5DC1 | c.529+2293A>T (n.529+2293A>T) c.1878T>A (p.Asp626Glu) c.27+2293A>T | |
| 6 | g.116120239T>A | CA365386554 | COL10A1,NT5DC1 | c.529+2294T>A (n.529+2294T>A) c.1877A>T (p.Asp626Val) c.27+2294T>A | |
| 6 | g.116120239T>C | CA365386556 | COL10A1,NT5DC1 | c.529+2294T>C (n.529+2294T>C) c.1877A>G (p.Asp626Gly) c.27+2294T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120239T>G | CA365386557 | COL10A1,NT5DC1 | c.529+2294T>G (n.529+2294T>G) c.1877A>C (p.Asp626Ala) c.27+2294T>G | |
| 6 | g.116120239T= | CA1657093244 | COL10A1,NT5DC1 | c.529+2294T= (n.529+2294T=) c.1877A= (p.Asp626=) c.27+2294T= | |
| 6 | g.116120240C>A | CA3968097 | COL10A1,NT5DC1 | c.529+2295C>A (n.529+2295C>A) c.1876G>T (p.Asp626Tyr) c.27+2295C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120240C= | CA1657093245 | COL10A1,NT5DC1 | c.529+2295C= (n.529+2295C=) c.1876G= (p.Asp626=) c.27+2295C= | |
| 6 | g.116120240C>G | CA365386559 | COL10A1,NT5DC1 | c.529+2295C>G (n.529+2295C>G) c.1876G>C (p.Asp626His) c.27+2295C>G | |
| 6 | g.116120240C>T | CA3968098 | COL10A1,NT5DC1 | c.529+2295C>T (n.529+2295C>T) c.1876G>A (p.Asp626Asn) c.27+2295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120243_116120252del | CA2573140417 | COL10A1,NT5DC1 | c.529+2298_529+2307del (n.529+2298_529+2307del) c.1867_1876del (p.Tyr623MetfsTer?) c.27+2298_27+2307del | ClinVar dbSNP |
| 6 | g.116120241A= | CA1657093246 | COL10A1,NT5DC1 | c.529+2296A= (n.529+2296A=) c.1875T= (p.Tyr625=) c.27+2296A= | |
| 6 | g.116120241A>C | CA365386560 | COL10A1,NT5DC1 | c.529+2296A>C (n.529+2296A>C) c.1875T>G (p.Tyr625Ter) c.27+2296A>C | |
| 6 | g.116120241A>G | CA3968099 | COL10A1,NT5DC1 | c.529+2296A>G (n.529+2296A>G) c.1875T>C (p.Tyr625=) c.27+2296A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120241A>T | CA365386561 | COL10A1,NT5DC1 | c.529+2296A>T (n.529+2296A>T) c.1875T>A (p.Tyr625Ter) c.27+2296A>T | ClinVar dbSNP |
| 6 | g.116120242T>A | CA365386562 | COL10A1,NT5DC1 | c.529+2297T>A (n.529+2297T>A) c.1874A>T (p.Tyr625Phe) c.27+2297T>A | |
| 6 | g.116120242T>C | CA365386564 | COL10A1,NT5DC1 | c.529+2297T>C (n.529+2297T>C) c.1874A>G (p.Tyr625Cys) c.27+2297T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116120242T>G | CA365386565 | COL10A1,NT5DC1 | c.529+2297T>G (n.529+2297T>G) c.1874A>C (p.Tyr625Ser) c.27+2297T>G | |
| 6 | g.116120242T= | CA1657093247 | COL10A1,NT5DC1 | c.529+2297T= (n.529+2297T=) c.1874A= (p.Tyr625=) c.27+2297T= | |
| 6 | g.116120243A= | CA1657093248 | COL10A1,NT5DC1 | c.529+2298A= (n.529+2298A=) c.1873T= (p.Tyr625=) c.27+2298A= | |
| 6 | g.116120243A>C | CA365386567 | COL10A1,NT5DC1 | c.529+2298A>C (n.529+2298A>C) c.1873T>G (p.Tyr625Asp) c.27+2298A>C | |
| 6 | g.116120243A>G | CA365386568 | COL10A1,NT5DC1 | c.529+2298A>G (n.529+2298A>G) c.1873T>C (p.Tyr625His) c.27+2298A>G | dbSNP gnomAD v2 |
| 6 | g.116120243A>T | CA365386570 | COL10A1,NT5DC1 | c.529+2298A>T (n.529+2298A>T) c.1873T>A (p.Tyr625Asn) c.27+2298A>T | |
| 6 | g.116120244G>A | CA451899465 | COL10A1,NT5DC1 | c.529+2299G>A (n.529+2299G>A) c.1872C>T (p.Thr624=) c.27+2299G>A | |
| 6 | g.116120244G>C | CA451899466 | COL10A1,NT5DC1 | c.529+2299G>C (n.529+2299G>C) c.1872C>G (p.Thr624=) c.27+2299G>C | |
| 6 | g.116120244G>T | CA451899468 | COL10A1,NT5DC1 | c.529+2299G>T (n.529+2299G>T) c.1872C>A (p.Thr624=) c.27+2299G>T | |
| 6 | g.116120245G>A | CA365386571 | COL10A1,NT5DC1 | c.529+2300G>A (n.529+2300G>A) c.1871C>T (p.Thr624Ile) c.27+2300G>A | gnomAD v4 |
| 6 | g.116120245G>C | CA365386572 | COL10A1,NT5DC1 | c.529+2300G>C (n.529+2300G>C) c.1871C>G (p.Thr624Ser) c.27+2300G>C | |
| 6 | g.116120245G>T | CA365386574 | COL10A1,NT5DC1 | c.529+2300G>T (n.529+2300G>T) c.1871C>A (p.Thr624Asn) c.27+2300G>T | |
| 6 | g.116120247_116120248del | CA2695206890 | COL10A1,NT5DC1 | c.529+2302_529+2303del (n.529+2302_529+2303del) c.1870_1871del (p.Thr624LeufsTer2) c.27+2302_27+2303del | |
| 6 | g.116120246T>A | CA365386576 | COL10A1,NT5DC1 | c.529+2301T>A (n.529+2301T>A) c.1870A>T (p.Thr624Ser) c.27+2301T>A | dbSNP gnomAD v4 |
| 6 | g.116120246T>C | CA365386578 | COL10A1,NT5DC1 | c.529+2301T>C (n.529+2301T>C) c.1870A>G (p.Thr624Ala) c.27+2301T>C | COSMIC |
| 6 | g.116120246T>G | CA365386579 | COL10A1,NT5DC1 | c.529+2301T>G (n.529+2301T>G) c.1870A>C (p.Thr624Pro) c.27+2301T>G | |
| 6 | g.116120246T= | CA1657093249 | COL10A1,NT5DC1 | c.529+2301T= (n.529+2301T=) c.1870A= (p.Thr624=) c.27+2301T= | |
| 6 | g.116120247G>A | CA451899470 | COL10A1,NT5DC1 | c.529+2302G>A (n.529+2302G>A) c.1869C>T (p.Tyr623=) c.27+2302G>A | gnomAD v4 |
| 6 | g.116120247G>C | CA365386582 | COL10A1,NT5DC1 | c.529+2302G>C (n.529+2302G>C) c.1869C>G (p.Tyr623Ter) c.27+2302G>C | ClinVar |
| 6 | g.116120247G>T | CA365386580 | COL10A1,NT5DC1 | c.529+2302G>T (n.529+2302G>T) c.1869C>A (p.Tyr623Ter) c.27+2302G>T | ClinVar dbSNP |
| 6 | g.116120249_116120261del | CA2580074797 | COL10A1,NT5DC1 | c.529+2304_529+2316del (n.529+2304_529+2316del) c.1857_1869del (p.Val621MetfsTer?) c.27+2304_27+2316del | ClinVar |
| 6 | g.116120248T>A | CA365386584 | COL10A1,NT5DC1 | c.529+2303T>A (n.529+2303T>A) c.1868A>T (p.Tyr623Phe) c.27+2303T>A | |
| 6 | g.116120248T>C | CA365386586 | COL10A1,NT5DC1 | c.529+2303T>C (n.529+2303T>C) c.1868A>G (p.Tyr623Cys) c.27+2303T>C | |
| 6 | g.116120248T>G | CA365386587 | COL10A1,NT5DC1 | c.529+2303T>G (n.529+2303T>G) c.1868A>C (p.Tyr623Ser) c.27+2303T>G | |
| 6 | g.116120249A>C | CA365386589 | COL10A1,NT5DC1 | c.529+2304A>C (n.529+2304A>C) c.1867T>G (p.Tyr623Asp) c.27+2304A>C | |
| 6 | g.116120249A>G | CA365386590 | COL10A1,NT5DC1 | c.529+2304A>G (n.529+2304A>G) c.1867T>C (p.Tyr623His) c.27+2304A>G | |
| 6 | g.116120249A>T | CA365386592 | COL10A1,NT5DC1 | c.529+2304A>T (n.529+2304A>T) c.1867T>A (p.Tyr623Asn) c.27+2304A>T | ClinVar |
| 6 | g.116120250C>A | CA365386593 | COL10A1,NT5DC1 | c.529+2305C>A (n.529+2305C>A) c.1866G>T (p.Met622Ile) c.27+2305C>A | |
| 6 | g.116120250C>G | CA365386594 | COL10A1,NT5DC1 | c.529+2305C>G (n.529+2305C>G) c.1866G>C (p.Met622Ile) c.27+2305C>G | |
| 6 | g.116120250C>T | CA365386598 | COL10A1,NT5DC1 | c.529+2305C>T (n.529+2305C>T) c.1866G>A (p.Met622Ile) c.27+2305C>T | |
| 6 | g.116120250_116120253del | CA2695206891 | COL10A1,NT5DC1 | c.529+2305_529+2308del (n.529+2305_529+2308del) c.1863_1866del (p.Met622ThrfsTer?) c.27+2305_27+2308del | |
| 6 | g.116120254_116120267del | CA2573140418 | COL10A1,NT5DC1 | c.529+2309_529+2322del (n.529+2309_529+2322del) c.1853_1866del (p.Gly618ValfsTer4) c.27+2309_27+2322del | ClinVar dbSNP |
| 6 | g.116120251A= | CA1657093250 | COL10A1,NT5DC1 | c.529+2306A= (n.529+2306A=) c.1865T= (p.Met622=) c.27+2306A= | |
| 6 | g.116120251A>C | CA365386599 | COL10A1,NT5DC1 | c.529+2306A>C (n.529+2306A>C) c.1865T>G (p.Met622Arg) c.27+2306A>C | gnomAD v4 |
| 6 | g.116120251A>G | CA365386601 | COL10A1,NT5DC1 | c.529+2306A>G (n.529+2306A>G) c.1865T>C (p.Met622Thr) c.27+2306A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120251A>T | CA365386603 | COL10A1,NT5DC1 | c.529+2306A>T (n.529+2306A>T) c.1865T>A (p.Met622Lys) c.27+2306A>T | |
| 6 | g.116120251_116120258del | CA2695206892 | COL10A1,NT5DC1 | c.529+2306_529+2313del (n.529+2306_529+2313del) c.1858_1865del (p.Pro620ValfsTer4) c.27+2306_27+2313del | |
| 6 | g.116120252T>A | CA365386608 | COL10A1,NT5DC1 | c.529+2307T>A (n.529+2307T>A) c.1864A>T (p.Met622Leu) c.27+2307T>A | |
| 6 | g.116120252T>C | CA365386607 | COL10A1,NT5DC1 | c.529+2307T>C (n.529+2307T>C) c.1864A>G (p.Met622Val) c.27+2307T>C | |
| 6 | g.116120252T>G | CA365386605 | COL10A1,NT5DC1 | c.529+2307T>G (n.529+2307T>G) c.1864A>C (p.Met622Leu) c.27+2307T>G | |
| 6 | g.116120253T>A | CA451899476 | COL10A1,NT5DC1 | c.529+2308T>A (n.529+2308T>A) c.1863A>T (p.Val621=) c.27+2308T>A | |
| 6 | g.116120253T>C | CA451899477 | COL10A1,NT5DC1 | c.529+2308T>C (n.529+2308T>C) c.1863A>G (p.Val621=) c.27+2308T>C | |
| 6 | g.116120253T>G | CA451899478 | COL10A1,NT5DC1 | c.529+2308T>G (n.529+2308T>G) c.1863A>C (p.Val621=) c.27+2308T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120253T= | CA1657093251 | COL10A1,NT5DC1 | c.529+2308T= (n.529+2308T=) c.1863A= (p.Val621=) c.27+2308T= | |
| 6 | g.116120254A>C | CA365386610 | COL10A1,NT5DC1 | c.529+2309A>C (n.529+2309A>C) c.1862T>G (p.Val621Gly) c.27+2309A>C | |
| 6 | g.116120254A>G | CA365386611 | COL10A1,NT5DC1 | c.529+2309A>G (n.529+2309A>G) c.1862T>C (p.Val621Ala) c.27+2309A>G | gnomAD v4 |
| 6 | g.116120254A>T | CA365386612 | COL10A1,NT5DC1 | c.529+2309A>T (n.529+2309A>T) c.1862T>A (p.Val621Glu) c.27+2309A>T | |
| 6 | g.116120255C>A | CA365386613 | COL10A1,NT5DC1 | c.529+2310C>A (n.529+2310C>A) c.1861G>T (p.Val621Leu) c.27+2310C>A | |
| 6 | g.116120255C>G | CA365386615 | COL10A1,NT5DC1 | c.529+2310C>G (n.529+2310C>G) c.1861G>C (p.Val621Leu) c.27+2310C>G | gnomAD v4 |
| 6 | g.116120255C>T | CA365386617 | COL10A1,NT5DC1 | c.529+2310C>T (n.529+2310C>T) c.1861G>A (p.Val621Ile) c.27+2310C>T | ClinVar |
| 6 | g.116120256del | CA2695206893 | COL10A1,NT5DC1 | c.529+2311del (n.529+2311del) c.1860del (p.Val621Ter) c.27+2311del | |
| 6 | g.116120256A>C | CA451899481 | COL10A1,NT5DC1 | c.529+2311A>C (n.529+2311A>C) c.1860T>G (p.Pro620=) c.27+2311A>C | |
| 6 | g.116120256A>G | CA451899482 | COL10A1,NT5DC1 | c.529+2311A>G (n.529+2311A>G) c.1860T>C (p.Pro620=) c.27+2311A>G | |
| 6 | g.116120256A>T | CA451899483 | COL10A1,NT5DC1 | c.529+2311A>T (n.529+2311A>T) c.1860T>A (p.Pro620=) c.27+2311A>T | |
| 6 | g.116120256_116120258delinsAGG | CA1657093252 | COL10A1,NT5DC1 | c.529+2311_529+2313delinsAGG (n.529+2311_529+2313delinsAGG) c.1858_1860delinsCCT (p.Pro620=) c.27+2311_27+2313delinsAGG | |
| 6 | g.116120257G>A | CA365386619 | COL10A1,NT5DC1 | c.529+2312G>A (n.529+2312G>A) c.1859C>T (p.Pro620Leu) c.27+2312G>A | ClinVar |
| 6 | g.116120257G>C | CA365386620 | COL10A1,NT5DC1 | c.529+2312G>C (n.529+2312G>C) c.1859C>G (p.Pro620Arg) c.27+2312G>C | |
| 6 | g.116120257G>T | CA365386622 | COL10A1,NT5DC1 | c.529+2312G>T (n.529+2312G>T) c.1859C>A (p.Pro620His) c.27+2312G>T | |
| 6 | g.116120260del | CA2573140419 | COL10A1,NT5DC1 | c.529+2315del (n.529+2315del) c.1859del (p.Pro620LeufsTer2) c.27+2315del | ClinVar dbSNP |
| 6 | g.116120259_116120260del | CA913189509 | COL10A1,NT5DC1 | c.529+2314_529+2315del (n.529+2314_529+2315del) c.1858_1859del (p.Pro620CysfsTer6) c.27+2314_27+2315del | ClinVar dbSNP |
| 6 | g.116120258G>A | CA365386623 | COL10A1,NT5DC1 | c.529+2313G>A (n.529+2313G>A) c.1858C>T (p.Pro620Ser) c.27+2313G>A | gnomAD v4 |
| 6 | g.116120258G>C | CA365386625 | COL10A1,NT5DC1 | c.529+2313G>C (n.529+2313G>C) c.1858C>G (p.Pro620Ala) c.27+2313G>C | |
| 6 | g.116120258G>T | CA365386627 | COL10A1,NT5DC1 | c.529+2313G>T (n.529+2313G>T) c.1858C>A (p.Pro620Thr) c.27+2313G>T | |
| 6 | g.116120259G>A | CA451899487 | COL10A1,NT5DC1 | c.529+2314G>A (n.529+2314G>A) c.1857C>T (p.Thr619=) c.27+2314G>A | |
| 6 | g.116120259G>C | CA451899489 | COL10A1,NT5DC1 | c.529+2314G>C (n.529+2314G>C) c.1857C>G (p.Thr619=) c.27+2314G>C | |
| 6 | g.116120259G>T | CA451899488 | COL10A1,NT5DC1 | c.529+2314G>T (n.529+2314G>T) c.1857C>A (p.Thr619=) c.27+2314G>T | |
| 6 | g.116120260G>A | CA365386631 | COL10A1,NT5DC1 | c.529+2315G>A (n.529+2315G>A) c.1856C>T (p.Thr619Ile) c.27+2315G>A | |
| 6 | g.116120260G>C | CA3968100 | COL10A1,NT5DC1 | c.529+2315G>C (n.529+2315G>C) c.1856C>G (p.Thr619Ser) c.27+2315G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116120260G= | CA1657093253 | COL10A1,NT5DC1 | c.529+2315G= (n.529+2315G=) c.1856C= (p.Thr619=) c.27+2315G= | |
| 6 | g.116120260G>T | CA365386630 | COL10A1,NT5DC1 | c.529+2315G>T (n.529+2315G>T) c.1856C>A (p.Thr619Asn) c.27+2315G>T | ClinVar dbSNP |
| 6 | g.116120261T>A | CA365386633 | COL10A1,NT5DC1 | c.529+2316T>A (n.529+2316T>A) c.1855A>T (p.Thr619Ser) c.27+2316T>A | |
| 6 | g.116120261T>C | CA365386635 | COL10A1,NT5DC1 | c.529+2316T>C (n.529+2316T>C) c.1855A>G (p.Thr619Ala) c.27+2316T>C | |
| 6 | g.116120261T>G | CA365386636 | COL10A1,NT5DC1 | c.529+2316T>G (n.529+2316T>G) c.1855A>C (p.Thr619Pro) c.27+2316T>G | |
| 6 | g.116120262G>A | CA451899494 | COL10A1,NT5DC1 | c.529+2317G>A (n.529+2317G>A) c.1854C>T (p.Gly618=) c.27+2317G>A | |
| 6 | g.116120262G>C | CA451899495 | COL10A1,NT5DC1 | c.529+2317G>C (n.529+2317G>C) c.1854C>G (p.Gly618=) c.27+2317G>C | |
| 6 | g.116120262G>T | CA451899496 | COL10A1,NT5DC1 | c.529+2317G>T (n.529+2317G>T) c.1854C>A (p.Gly618=) c.27+2317G>T | |
| 6 | g.116120263C>A | CA365386638 | COL10A1,NT5DC1 | c.529+2318C>A (n.529+2318C>A) c.1853G>T (p.Gly618Val) c.27+2318C>A | ClinVar dbSNP |
| 6 | g.116120263C>G | CA365386639 | COL10A1,NT5DC1 | c.529+2318C>G (n.529+2318C>G) c.1853G>C (p.Gly618Ala) c.27+2318C>G | |
| 6 | g.116120263C>T | CA365386640 | COL10A1,NT5DC1 | c.529+2318C>T (n.529+2318C>T) c.1853G>A (p.Gly618Asp) c.27+2318C>T | COSMIC |
| 6 | g.116120264C>A | CA3968101 | COL10A1,NT5DC1 | c.529+2319C>A (n.529+2319C>A) c.1852G>T (p.Gly618Cys) c.27+2319C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120264C= | CA1657093254 | COL10A1,NT5DC1 | c.529+2319C= (n.529+2319C=) c.1852G= (p.Gly618=) c.27+2319C= | |
| 6 | g.116120264C>G | CA365386643 | COL10A1,NT5DC1 | c.529+2319C>G (n.529+2319C>G) c.1852G>C (p.Gly618Arg) c.27+2319C>G | |
| 6 | g.116120264C>T | CA365386645 | COL10A1,NT5DC1 | c.529+2319C>T (n.529+2319C>T) c.1852G>A (p.Gly618Ser) c.27+2319C>T | dbSNP gnomAD v2 gnomAD v4 |