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.33192137dup | CA2578582313 | COL11A2 | c.82+24dup (n.82+24dup) c.-765+890dup (n.-765+890dup) | |
| 6 | g.33192136C>A | CA2678231300 | COL11A2 | c.82+23G>T (n.82+23G>T) c.-765+889G>T (n.-765+889G>T) | gnomAD v4 |
| 6 | g.33192136C>G | CA2578582314 | COL11A2 | c.82+23G>C (n.82+23G>C) c.-765+889G>C (n.-765+889G>C) | |
| 6 | g.33192137C>A | CA2678231301 | COL11A2 | c.82+22G>T (n.82+22G>T) c.-765+888G>T (n.-765+888G>T) | gnomAD v4 |
| 6 | g.33192137C= | CA1619905545 | COL11A2 | c.82+22G= (n.82+22G=) c.-765+888G= (n.-765+888G=) | |
| 6 | g.33192137C>T | CA566410331 | COL11A2 | c.82+22G>A (n.82+22G>A) c.-765+888G>A (n.-765+888G>A) | dbSNP gnomAD v2 |
| 6 | g.33192138A>G | CA2678231302 | COL11A2 | c.82+21T>C (n.82+21T>C) c.-765+887T>C (n.-765+887T>C) | gnomAD v4 |
| 6 | g.33192139G>A | CA566410332 | COL11A2 | c.82+20C>T (n.82+20C>T) c.-765+886C>T (n.-765+886C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192139G= | CA1619905546 | COL11A2 | c.82+20C= (n.82+20C=) c.-765+886C= (n.-765+886C=) | |
| 6 | g.33192140G>A | CA2678231303 | COL11A2 | c.82+19C>T (n.82+19C>T) c.-765+885C>T (n.-765+885C>T) | gnomAD v4 |
| 6 | g.33192141C>A | CA2678231304 | COL11A2 | c.82+18G>T (n.82+18G>T) c.-765+884G>T (n.-765+884G>T) | gnomAD v4 |
| 6 | g.33192141C>T | CA2678231305 | COL11A2 | c.82+18G>A (n.82+18G>A) c.-765+884G>A (n.-765+884G>A) | gnomAD v4 |
| 6 | g.33192142A>G | CA2739272938 | COL11A2 | c.82+17T>C (n.82+17T>C) c.-765+883T>C (n.-765+883T>C) | ClinVar |
| 6 | g.33192143T= | CA1619905547 | COL11A2 | c.82+16A= (n.82+16A=) c.-765+882A= (n.-765+882A=) | |
| 6 | g.33192144C>A | CA2678231307 | COL11A2 | c.82+15G>T (n.82+15G>T) c.-765+881G>T (n.-765+881G>T) | gnomAD v4 |
| 6 | g.33192144C>T | CA2678231306 | COL11A2 | c.82+15G>A (n.82+15G>A) c.-765+881G>A (n.-765+881G>A) | gnomAD v4 |
| 6 | g.33192144_33192147dup | CA566410333 | COL11A2 | c.82+12_82+15dup (n.82+12_82+15dup) c.-765+878_-765+881dup (n.-765+878_-765+881dup) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192145A= | CA1619905548 | COL11A2 | c.82+14T= (n.82+14T=) c.-765+880T= (n.-765+880T=) | |
| 6 | g.33192145A>G | CA2678231308 | COL11A2 | c.82+14T>C (n.82+14T>C) c.-765+880T>C (n.-765+880T>C) | gnomAD v4 |
| 6 | g.33192145A>T | CA1619905549 | COL11A2 | c.82+14T>A (n.82+14T>A) c.-765+880T>A (n.-765+880T>A) | dbSNP gnomAD v4 |
| 6 | g.33192146G>A | CA2678231311 | COL11A2 | c.82+13C>T (n.82+13C>T) c.-765+879C>T (n.-765+879C>T) | gnomAD v4 |
| 6 | g.33192146G>C | CA2678231309 | COL11A2 | c.82+13C>G (n.82+13C>G) c.-765+879C>G (n.-765+879C>G) | ClinVar gnomAD v4 |
| 6 | g.33192146G>T | CA2678231310 | COL11A2 | c.82+13C>A (n.82+13C>A) c.-765+879C>A (n.-765+879C>A) | gnomAD v4 |
| 6 | g.33192147G>T | CA2678231312 | COL11A2 | c.82+12C>A (n.82+12C>A) c.-765+878C>A (n.-765+878C>A) | gnomAD v4 |
| 6 | g.33192148A>G | CA2678231313 | COL11A2 | c.82+11T>C (n.82+11T>C) c.-765+877T>C (n.-765+877T>C) | gnomAD v4 |
| 6 | g.33192149C>A | CA2678231314 | COL11A2 | c.82+10G>T (n.82+10G>T) c.-765+876G>T (n.-765+876G>T) | gnomAD v4 |
| 6 | g.33192151C>A | CA2678231315 | COL11A2 | c.82+8G>T (n.82+8G>T) c.-765+874G>T (n.-765+874G>T) | gnomAD v4 |
| 6 | g.33192151C= | CA1619905551 | COL11A2 | c.82+8G= (n.82+8G=) c.-765+874G= (n.-765+874G=) | |
| 6 | g.33192151C>G | CA645544832 | COL11A2 | c.82+8G>C (n.82+8G>C) c.-765+874G>C (n.-765+874G>C) | ClinVar dbSNP COSMIC |
| 6 | g.33192151C>T | CA566410334 | COL11A2 | c.82+8G>A (n.82+8G>A) c.-765+874G>A (n.-765+874G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192151_33192153delinsCCT | CA1619905550 | COL11A2 | c.82+6_82+8delinsAGG (n.82+6_82+8delinsAGG) c.-765+872_-765+874delinsAGG (n.-765+872_-765+874delinsAGG) | |
| 6 | g.33192152C>A | CA2678231318 | COL11A2 | c.82+7G>T (n.82+7G>T) c.-765+873G>T (n.-765+873G>T) | gnomAD v4 |
| 6 | g.33192152C= | CA1619905552 | COL11A2 | c.82+7G= (n.82+7G=) c.-765+873G= (n.-765+873G=) | |
| 6 | g.33192152C>T | CA3751768 | COL11A2 | c.82+7G>A (n.82+7G>A) c.-765+873G>A (n.-765+873G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192154_33192155del | CA566410335 | COL11A2 | c.82+6_82+7del (n.82+6_82+7del) c.-765+872_-765+873del (n.-765+872_-765+873del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192153T>C | CA566410336 | COL11A2 | c.82+6A>G (n.82+6A>G) c.-765+872A>G (n.-765+872A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192153T= | CA1619905553 | COL11A2 | c.82+6A= (n.82+6A=) c.-765+872A= (n.-765+872A=) | |
| 6 | g.33192154C>A | CA2678231319 | COL11A2 | c.82+5G>T (n.82+5G>T) c.-765+871G>T (n.-765+871G>T) | gnomAD v4 |
| 6 | g.33192154C>T | CA2678231320 | COL11A2 | c.82+5G>A (n.82+5G>A) c.-765+871G>A (n.-765+871G>A) | gnomAD v4 |
| 6 | g.33192155T>C | CA2580074638 | COL11A2 | c.82+4A>G (n.82+4A>G) c.-765+870A>G (n.-765+870A>G) | ClinVar |
| 6 | g.33192156T>C | CA137054905 | COL11A2 | c.82+3A>G (n.82+3A>G) c.-765+869A>G (n.-765+869A>G) | dbSNP gnomAD v4 |
| 6 | g.33192156T= | CA1619905554 | COL11A2 | c.82+3A= (n.82+3A=) c.-765+869A= (n.-765+869A=) | |
| 6 | g.33192157A>C | CA363614815 | COL11A2 | c.82+2T>G (n.82+2T>G) c.-765+868T>G (n.-765+868T>G) | |
| 6 | g.33192157A>G | CA363614816 | COL11A2 | c.82+2T>C (n.82+2T>C) c.-765+868T>C (n.-765+868T>C) | |
| 6 | g.33192157A>T | CA363614819 | COL11A2 | c.82+2T>A (n.82+2T>A) c.-765+868T>A (n.-765+868T>A) | |
| 6 | g.33192157_33192158del | CA2678231323 | COL11A2 | c.82+1_82+2del (n.82+1_82+2del) c.-765+867_-765+868del (n.-765+867_-765+868del) | gnomAD v4 |
| 6 | g.33192158C>A | CA363614821 | COL11A2 | c.82+1G>T (n.82+1G>T) c.-765+867G>T (n.-765+867G>T) | gnomAD v4 |
| 6 | g.33192158C>G | CA363614823 | COL11A2 | c.82+1G>C (n.82+1G>C) c.-765+867G>C (n.-765+867G>C) | |
| 6 | g.33192158C>T | CA363614825 | COL11A2 | c.82+1G>A (n.82+1G>A) c.-765+867G>A (n.-765+867G>A) | gnomAD v4 |
| 6 | g.33192159del | CA2678231324 | COL11A2 | c.82+1del c.-765+867del (n.-765+867del) | gnomAD v4 |
| 6 | g.33192159C>A | CA363614827 | COL11A2 | c.82G>T (p.Gly28Cys) c.-765+866G>T (n.-765+866G>T) | gnomAD v4 |
| 6 | g.33192159C>G | CA363614831 | COL11A2 | c.82G>C (p.Gly28Arg) c.-765+866G>C (n.-765+866G>C) | |
| 6 | g.33192159C>T | CA363614829 | COL11A2 | c.82G>A (p.Gly28Ser) c.-765+866G>A (n.-765+866G>A) | gnomAD v4 |
| 6 | g.33192160T>A | CA449853382 | COL11A2 | c.81A>T (p.Ala27=) c.-765+865A>T (n.-765+865A>T) | gnomAD v4 |
| 6 | g.33192160T>C | CA449853383 | COL11A2 | c.81A>G (p.Ala27=) c.-765+865A>G (n.-765+865A>G) | dbSNP gnomAD v4 |
| 6 | g.33192160T>G | CA449853384 | COL11A2 | c.81A>C (p.Ala27=) c.-765+865A>C (n.-765+865A>C) | |
| 6 | g.33192160T= | CA1619905555 | COL11A2 | c.81A= (p.Ala27=) c.-765+865A= (n.-765+865A=) | |
| 6 | g.33192161G>A | CA363614834 | COL11A2 | c.80C>T (p.Ala27Val) c.-765+864C>T (n.-765+864C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192161G>C | CA363614838 | COL11A2 | c.80C>G (p.Ala27Gly) c.-765+864C>G (n.-765+864C>G) | |
| 6 | g.33192161G= | CA1619905556 | COL11A2 | c.80C= (p.Ala27=) c.-765+864C= (n.-765+864C=) | |
| 6 | g.33192161G>T | CA363614836 | COL11A2 | c.80C>A (p.Ala27Glu) c.-765+864C>A (n.-765+864C>A) | gnomAD v4 |
| 6 | g.33192162C>A | CA363614840 | COL11A2 | c.79G>T (p.Ala27Ser) c.-765+863G>T (n.-765+863G>T) | dbSNP gnomAD v4 |
| 6 | g.33192162C= | CA1619905557 | COL11A2 | c.79G= (p.Ala27=) c.-765+863G= (n.-765+863G=) | |
| 6 | g.33192162C>G | CA363614844 | COL11A2 | c.79G>C (p.Ala27Pro) c.-765+863G>C (n.-765+863G>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192162C>T | CA363614842 | COL11A2 | c.79G>A (p.Ala27Thr) c.-765+863G>A (n.-765+863G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192163C>A | CA363614846 | COL11A2 | c.78G>T (p.Trp26Cys) c.-765+862G>T (n.-765+862G>T) | gnomAD v4 |
| 6 | g.33192163C= | CA1619905558 | COL11A2 | c.78G= (p.Trp26=) c.-765+862G= (n.-765+862G=) | |
| 6 | g.33192163C>G | CA363614849 | COL11A2 | c.78G>C (p.Trp26Cys) c.-765+862G>C (n.-765+862G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192163C>T | CA363614848 | COL11A2 | c.78G>A (p.Trp26Ter) c.-765+862G>A (n.-765+862G>A) | |
| 6 | g.33192163_33192164delinsAA | CA2697553267 | COL11A2 | c.77_78delinsTT (p.Trp26Phe) c.-765+861_-765+862delinsTT (n.-765+861_-765+862delinsTT) | ClinVar |
| 6 | g.33192164C>A | CA363614850 | COL11A2 | c.77G>T (p.Trp26Leu) c.-765+861G>T (n.-765+861G>T) | gnomAD v4 |
| 6 | g.33192164C>G | CA363614853 | COL11A2 | c.77G>C (p.Trp26Ser) c.-765+861G>C (n.-765+861G>C) | |
| 6 | g.33192164C>T | CA363614851 | COL11A2 | c.77G>A (p.Trp26Ter) c.-765+861G>A (n.-765+861G>A) | |
| 6 | g.33192165A>C | CA363614855 | COL11A2 | c.76T>G (p.Trp26Gly) c.-765+860T>G (n.-765+860T>G) | |
| 6 | g.33192165A>G | CA363614857 | COL11A2 | c.76T>C (p.Trp26Arg) c.-765+860T>C (n.-765+860T>C) | gnomAD v4 |
| 6 | g.33192165A>T | CA363614859 | COL11A2 | c.76T>A (p.Trp26Arg) c.-765+860T>A (n.-765+860T>A) | |
| 6 | g.33192166G>A | CA449853396 | COL11A2 | c.75C>T (p.Gly25=) c.-765+859C>T (n.-765+859C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192166G>C | CA449853397 | COL11A2 | c.75C>G (p.Gly25=) c.-765+859C>G (n.-765+859C>G) | |
| 6 | g.33192166G= | CA1619905559 | COL11A2 | c.75C= (p.Gly25=) c.-765+859C= (n.-765+859C=) | |
| 6 | g.33192166G>T | CA449853400 | COL11A2 | c.75C>A (p.Gly25=) c.-765+859C>A (n.-765+859C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192167C>A | CA363614861 | COL11A2 | c.74G>T (p.Gly25Val) c.-765+858G>T (n.-765+858G>T) | gnomAD v4 |
| 6 | g.33192167C= | CA1619905560 | COL11A2 | c.74G= (p.Gly25=) c.-765+858G= (n.-765+858G=) | |
| 6 | g.33192167C>G | CA363614863 | COL11A2 | c.74G>C (p.Gly25Ala) c.-765+858G>C (n.-765+858G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192167C>T | CA363614865 | COL11A2 | c.74G>A (p.Gly25Asp) c.-765+858G>A (n.-765+858G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192168C>A | CA137054907 | COL11A2 | c.73G>T (p.Gly25Cys) c.-765+857G>T (n.-765+857G>T) | dbSNP gnomAD v4 |
| 6 | g.33192168C= | CA1619905561 | COL11A2 | c.73G= (p.Gly25=) c.-765+857G= (n.-765+857G=) | |
| 6 | g.33192168C>G | CA363614869 | COL11A2 | c.73G>C (p.Gly25Arg) c.-765+857G>C (n.-765+857G>C) | |
| 6 | g.33192168C>T | CA363614870 | COL11A2 | c.73G>A (p.Gly25Ser) c.-765+857G>A (n.-765+857G>A) | |
| 6 | g.33192169T>A | CA449853407 | COL11A2 | c.72A>T (p.Pro24=) c.-765+856A>T (n.-765+856A>T) | gnomAD v4 |
| 6 | g.33192169T>C | CA449853408 | COL11A2 | c.72A>G (p.Pro24=) c.-765+856A>G (n.-765+856A>G) | gnomAD v4 |
| 6 | g.33192169T>G | CA449853409 | COL11A2 | c.72A>C (p.Pro24=) c.-765+856A>C (n.-765+856A>C) | ClinVar |
| 6 | g.33192170G>A | CA363614876 | COL11A2 | c.71C>T (p.Pro24Leu) c.-765+855C>T (n.-765+855C>T) | gnomAD v4 |
| 6 | g.33192170G>C | CA363614875 | COL11A2 | c.71C>G (p.Pro24Arg) c.-765+855C>G (n.-765+855C>G) | |
| 6 | g.33192170G>T | CA363614873 | COL11A2 | c.71C>A (p.Pro24Gln) c.-765+855C>A (n.-765+855C>A) | gnomAD v4 |
| 6 | g.33192173del | CA2678231344 | COL11A2 | c.71del (p.Pro24GlnfsTer15) c.-765+855del (n.-765+855del) | gnomAD v4 |
| 6 | g.33192171G>A | CA363614879 | COL11A2 | c.70C>T (p.Pro24Ser) c.-765+854C>T (n.-765+854C>T) | gnomAD v4 |
| 6 | g.33192171G>C | CA363614881 | COL11A2 | c.70C>G (p.Pro24Ala) c.-765+854C>G (n.-765+854C>G) | |
| 6 | g.33192171G>T | CA363614882 | COL11A2 | c.70C>A (p.Pro24Thr) c.-765+854C>A (n.-765+854C>A) | gnomAD v4 |
| 6 | g.33192172G>A | CA449853422 | COL11A2 | c.69C>T (p.Ala23=) c.-765+853C>T (n.-765+853C>T) | gnomAD v4 |
| 6 | g.33192172G>C | CA449853423 | COL11A2 | c.69C>G (p.Ala23=) c.-765+853C>G (n.-765+853C>G) | gnomAD v4 |
| 6 | g.33192172G>T | CA449853425 | COL11A2 | c.69C>A (p.Ala23=) c.-765+853C>A (n.-765+853C>A) | gnomAD v4 |
| 6 | g.33192173G>A | CA363614885 | COL11A2 | c.68C>T (p.Ala23Val) c.-765+852C>T (n.-765+852C>T) | |
| 6 | g.33192173G>C | CA363614887 | COL11A2 | c.68C>G (p.Ala23Gly) c.-765+852C>G (n.-765+852C>G) | |
| 6 | g.33192173G= | CA1619905562 | COL11A2 | c.68C= (p.Ala23=) c.-765+852C= (n.-765+852C=) | |
| 6 | g.33192173G>T | CA363614889 | COL11A2 | c.68C>A (p.Ala23Asp) c.-765+852C>A (n.-765+852C>A) | gnomAD v4 |
| 6 | g.33192174C>A | CA363614891 | COL11A2 | c.67G>T (p.Ala23Ser) c.-765+851G>T (n.-765+851G>T) | gnomAD v4 |
| 6 | g.33192174C= | CA1619905563 | COL11A2 | c.67G= (p.Ala23=) c.-765+851G= (n.-765+851G=) | |
| 6 | g.33192174C>G | CA363614893 | COL11A2 | c.67G>C (p.Ala23Pro) c.-765+851G>C (n.-765+851G>C) | |
| 6 | g.33192174C>T | CA363614895 | COL11A2 | c.67G>A (p.Ala23Thr) c.-765+851G>A (n.-765+851G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192175dup | CA915944208 | COL11A2 | c.67dup (p.Ala23GlyfsTer23) c.-765+851dup (n.-765+851dup) | ClinVar dbSNP |
| 6 | g.33192175C>A | CA449853431 | COL11A2 | c.66G>T (p.Ala22=) c.-765+850G>T (n.-765+850G>T) | gnomAD v4 |
| 6 | g.33192175C= | CA1619905564 | COL11A2 | c.66G= (p.Ala22=) c.-765+850G= (n.-765+850G=) | |
| 6 | g.33192175C>G | CA137054909 | COL11A2 | c.66G>C (p.Ala22=) c.-765+850G>C (n.-765+850G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192175C>T | CA449853433 | COL11A2 | c.66G>A (p.Ala22=) c.-765+850G>A (n.-765+850G>A) | ClinVar gnomAD v4 |
| 6 | g.33192176G>A | CA137054912 | COL11A2 | c.65C>T (p.Ala22Val) c.-765+849C>T (n.-765+849C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192176G>C | CA363614902 | COL11A2 | c.65C>G (p.Ala22Gly) c.-765+849C>G (n.-765+849C>G) | |
| 6 | g.33192176G= | CA1619905565 | COL11A2 | c.65C= (p.Ala22=) c.-765+849C= (n.-765+849C=) | |
| 6 | g.33192176G>T | CA363614899 | COL11A2 | c.65C>A (p.Ala22Glu) c.-765+849C>A (n.-765+849C>A) | gnomAD v4 |
| 6 | g.33192177C>A | CA363614904 | COL11A2 | c.64G>T (p.Ala22Ser) c.-765+848G>T (n.-765+848G>T) | gnomAD v4 |
| 6 | g.33192177C= | CA1619905566 | COL11A2 | c.64G= (p.Ala22=) c.-765+848G= (n.-765+848G=) | |
| 6 | g.33192177C>G | CA363614905 | COL11A2 | c.64G>C (p.Ala22Pro) c.-765+848G>C (n.-765+848G>C) | |
| 6 | g.33192177C>T | CA363614908 | COL11A2 | c.64G>A (p.Ala22Thr) c.-765+848G>A (n.-765+848G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192178G>A | CA449853437 | COL11A2 | c.63C>T (p.Ser21=) c.-765+847C>T (n.-765+847C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192178G>C | CA363614910 | COL11A2 | c.63C>G (p.Ser21Arg) c.-765+847C>G (n.-765+847C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192178G= | CA1619905567 | COL11A2 | c.63C= (p.Ser21=) c.-765+847C= (n.-765+847C=) | |
| 6 | g.33192178G>T | CA363614912 | COL11A2 | c.63C>A (p.Ser21Arg) c.-765+847C>A (n.-765+847C>A) | ClinVar gnomAD v4 |
| 6 | g.33192179C>A | CA363614914 | COL11A2 | c.62G>T (p.Ser21Ile) c.-765+846G>T (n.-765+846G>T) | gnomAD v4 |
| 6 | g.33192179C>G | CA363614916 | COL11A2 | c.62G>C (p.Ser21Thr) c.-765+846G>C (n.-765+846G>C) | |
| 6 | g.33192179C>T | CA363614917 | COL11A2 | c.62G>A (p.Ser21Asn) c.-765+846G>A (n.-765+846G>A) | |
| 6 | g.33192180T>A | CA363614919 | COL11A2 | c.61A>T (p.Ser21Cys) c.-765+845A>T (n.-765+845A>T) | |
| 6 | g.33192180T>C | CA363614921 | COL11A2 | c.61A>G (p.Ser21Gly) c.-765+845A>G (n.-765+845A>G) | |
| 6 | g.33192180T>G | CA363614924 | COL11A2 | c.61A>C (p.Ser21Arg) c.-765+845A>C (n.-765+845A>C) | |
| 6 | g.33192181C>A | CA449853444 | COL11A2 | c.60G>T (p.Leu20=) c.-765+844G>T (n.-765+844G>T) | gnomAD v4 |
| 6 | g.33192181C>G | CA449853443 | COL11A2 | c.60G>C (p.Leu20=) c.-765+844G>C (n.-765+844G>C) | |
| 6 | g.33192181C>T | CA449853442 | COL11A2 | c.60G>A (p.Leu20=) c.-765+844G>A (n.-765+844G>A) | gnomAD v4 |
| 6 | g.33192182A>C | CA363614929 | COL11A2 | c.59T>G (p.Leu20Arg) c.-765+843T>G (n.-765+843T>G) | |
| 6 | g.33192182A>G | CA363614927 | COL11A2 | c.59T>C (p.Leu20Pro) c.-765+843T>C (n.-765+843T>C) | gnomAD v4 |
| 6 | g.33192182A>T | CA363614925 | COL11A2 | c.59T>A (p.Leu20Gln) c.-765+843T>A (n.-765+843T>A) | |
| 6 | g.33192183G>A | CA449853445 | COL11A2 | c.58C>T (p.Leu20=) c.-765+842C>T (n.-765+842C>T) | |
| 6 | g.33192183G>C | CA363614931 | COL11A2 | c.58C>G (p.Leu20Val) c.-765+842C>G (n.-765+842C>G) | |
| 6 | g.33192183G>T | CA363614932 | COL11A2 | c.58C>A (p.Leu20Met) c.-765+842C>A (n.-765+842C>A) | gnomAD v4 |
| 6 | g.33192184C>A | CA449853446 | COL11A2 | c.57G>T (p.Gly19=) c.-765+841G>T (n.-765+841G>T) | gnomAD v4 |
| 6 | g.33192184C= | CA1619905568 | COL11A2 | c.57G= (p.Gly19=) c.-765+841G= (n.-765+841G=) | |
| 6 | g.33192184C>G | CA449853447 | COL11A2 | c.57G>C (p.Gly19=) c.-765+841G>C (n.-765+841G>C) | |
| 6 | g.33192184C>T | CA449853449 | COL11A2 | c.57G>A (p.Gly19=) c.-765+841G>A (n.-765+841G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192185C>A | CA137054915 | COL11A2 | c.56G>T (p.Gly19Val) c.-765+840G>T (n.-765+840G>T) | dbSNP gnomAD v4 |
| 6 | g.33192185C= | CA1619905569 | COL11A2 | c.56G= (p.Gly19=) c.-765+840G= (n.-765+840G=) | |
| 6 | g.33192185C>G | CA363614936 | COL11A2 | c.56G>C (p.Gly19Ala) c.-765+840G>C (n.-765+840G>C) | |
| 6 | g.33192185C>T | CA363614938 | COL11A2 | c.56G>A (p.Gly19Glu) c.-765+840G>A (n.-765+840G>A) | |
| 6 | g.33192186C>A | CA363614939 | COL11A2 | c.55G>T (p.Gly19Trp) c.-765+839G>T (n.-765+839G>T) | gnomAD v4 |
| 6 | g.33192186C= | CA1619905570 | COL11A2 | c.55G= (p.Gly19=) c.-765+839G= (n.-765+839G=) | |
| 6 | g.33192186C>G | CA363614941 | COL11A2 | c.55G>C (p.Gly19Arg) c.-765+839G>C (n.-765+839G>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192186C>T | CA363614942 | COL11A2 | c.55G>A (p.Gly19Arg) c.-765+839G>A (n.-765+839G>A) | gnomAD v4 |
| 6 | g.33192187C>A | CA449853451 | COL11A2 | c.54G>T (p.Leu18=) c.-765+838G>T (n.-765+838G>T) | gnomAD v4 |
| 6 | g.33192187C>G | CA449853452 | COL11A2 | c.54G>C (p.Leu18=) c.-765+838G>C (n.-765+838G>C) | gnomAD v4 |
| 6 | g.33192187C>T | CA449853453 | COL11A2 | c.54G>A (p.Leu18=) c.-765+838G>A (n.-765+838G>A) | gnomAD v4 |
| 6 | g.33192188A>C | CA363614945 | COL11A2 | c.53T>G (p.Leu18Arg) c.-765+837T>G (n.-765+837T>G) | |
| 6 | g.33192188A>G | CA363614947 | COL11A2 | c.53T>C (p.Leu18Pro) c.-765+837T>C (n.-765+837T>C) | gnomAD v4 |
| 6 | g.33192188A>T | CA363614948 | COL11A2 | c.53T>A (p.Leu18Gln) c.-765+837T>A (n.-765+837T>A) | |
| 6 | g.33192189G>A | CA449853455 | COL11A2 | c.52C>T (p.Leu18=) c.-765+836C>T (n.-765+836C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192189G>C | CA363614950 | COL11A2 | c.52C>G (p.Leu18Val) c.-765+836C>G (n.-765+836C>G) | |
| 6 | g.33192189G= | CA1619905571 | COL11A2 | c.52C= (p.Leu18=) c.-765+836C= (n.-765+836C=) | |
| 6 | g.33192189G>T | CA363614952 | COL11A2 | c.52C>A (p.Leu18Met) c.-765+836C>A (n.-765+836C>A) | gnomAD v4 |
| 6 | g.33192190C>A | CA449853456 | COL11A2 | c.51G>T (p.Val17=) c.-765+835G>T (n.-765+835G>T) | gnomAD v4 |
| 6 | g.33192190C>G | CA449853457 | COL11A2 | c.51G>C (p.Val17=) c.-765+835G>C (n.-765+835G>C) | |
| 6 | g.33192190C>T | CA449853458 | COL11A2 | c.51G>A (p.Val17=) c.-765+835G>A (n.-765+835G>A) | gnomAD v4 |
| 6 | g.33192191A>C | CA363614956 | COL11A2 | c.50T>G (p.Val17Gly) c.-765+834T>G (n.-765+834T>G) | |
| 6 | g.33192191A>G | CA363614958 | COL11A2 | c.50T>C (p.Val17Ala) c.-765+834T>C (n.-765+834T>C) | gnomAD v4 |
| 6 | g.33192191A>T | CA363614954 | COL11A2 | c.50T>A (p.Val17Glu) c.-765+834T>A (n.-765+834T>A) | |
| 6 | g.33192192C>A | CA363614964 | COL11A2 | c.49G>T (p.Val17Leu) c.-765+833G>T (n.-765+833G>T) | gnomAD v4 |
| 6 | g.33192192C= | CA1619905572 | COL11A2 | c.49G= (p.Val17=) c.-765+833G= (n.-765+833G=) | |
| 6 | g.33192192C>G | CA363614960 | COL11A2 | c.49G>C (p.Val17Leu) c.-765+833G>C (n.-765+833G>C) | dbSNP gnomAD v4 |
| 6 | g.33192192C>T | CA363614962 | COL11A2 | c.49G>A (p.Val17Met) c.-765+833G>A (n.-765+833G>A) | gnomAD v4 |
| 6 | g.33192193del | CA2678231391 | COL11A2 | c.49del (p.Val17CysfsTer4) c.-765+833del (n.-765+833del) | gnomAD v4 |
| 6 | g.33192193C>A | CA449853459 | COL11A2 | c.48G>T (p.Leu16=) c.-765+832G>T (n.-765+832G>T) | gnomAD v4 |
| 6 | g.33192193C>G | CA449853460 | COL11A2 | c.48G>C (p.Leu16=) c.-765+832G>C (n.-765+832G>C) | gnomAD v4 |
| 6 | g.33192193C>T | CA449853461 | COL11A2 | c.48G>A (p.Leu16=) c.-765+832G>A (n.-765+832G>A) | gnomAD v4 |
| 6 | g.33192193_33192194del | CA2578582315 | COL11A2 | c.47_48del (p.Leu16ArgfsTer29) c.-765+831_-765+832del (n.-765+831_-765+832del) | |
| 6 | g.33192194A>C | CA363614966 | COL11A2 | c.47T>G (p.Leu16Arg) c.-765+831T>G (n.-765+831T>G) | |
| 6 | g.33192194A>G | CA363614968 | COL11A2 | c.47T>C (p.Leu16Pro) c.-765+831T>C (n.-765+831T>C) | gnomAD v4 |
| 6 | g.33192194A>T | CA363614970 | COL11A2 | c.47T>A (p.Leu16Gln) c.-765+831T>A (n.-765+831T>A) | |
| 6 | g.33192196_33192197del | CA2678231396 | COL11A2 | c.46_47del (p.Leu16GlyfsTer29) c.-765+830_-765+831del (n.-765+830_-765+831del) | gnomAD v4 |
| 6 | g.33192195G>A | CA449853462 | COL11A2 | c.46C>T (p.Leu16=) c.-765+830C>T (n.-765+830C>T) | |
| 6 | g.33192195G>C | CA363614971 | COL11A2 | c.46C>G (p.Leu16Val) c.-765+830C>G (n.-765+830C>G) | COSMIC |
| 6 | g.33192195G>T | CA363614973 | COL11A2 | c.46C>A (p.Leu16Met) c.-765+830C>A (n.-765+830C>A) | gnomAD v4 |
| 6 | g.33192196A= | CA1619905573 | COL11A2 | c.45T= (p.Pro15=) c.-765+829T= (n.-765+829T=) | |
| 6 | g.33192196A>C | CA449853463 | COL11A2 | c.45T>G (p.Pro15=) c.-765+829T>G (n.-765+829T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192196A>G | CA449853465 | COL11A2 | c.45T>C (p.Pro15=) c.-765+829T>C (n.-765+829T>C) | |
| 6 | g.33192196A>T | CA449853466 | COL11A2 | c.45T>A (p.Pro15=) c.-765+829T>A (n.-765+829T>A) | gnomAD v4 |
| 6 | g.33192197G>A | CA363614979 | COL11A2 | c.44C>T (p.Pro15Leu) c.-765+828C>T (n.-765+828C>T) | gnomAD v4 |
| 6 | g.33192197G>C | CA137054917 | COL11A2 | c.44C>G (p.Pro15Arg) c.-765+828C>G (n.-765+828C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192197G= | CA1619905574 | COL11A2 | c.44C= (p.Pro15=) c.-765+828C= (n.-765+828C=) | |
| 6 | g.33192197G>T | CA363614977 | COL11A2 | c.44C>A (p.Pro15His) c.-765+828C>A (n.-765+828C>A) | gnomAD v4 |
| 6 | g.33192198G>A | CA3751769 | COL11A2 | c.43C>T (p.Pro15Ser) c.-765+827C>T (n.-765+827C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33192198G>C | CA363614981 | COL11A2 | c.43C>G (p.Pro15Ala) c.-765+827C>G (n.-765+827C>G) | |
| 6 | g.33192198G= | CA1619905575 | COL11A2 | c.43C= (p.Pro15=) c.-765+827C= (n.-765+827C=) | |
| 6 | g.33192198G>T | CA363614983 | COL11A2 | c.43C>A (p.Pro15Thr) c.-765+827C>A (n.-765+827C>A) | gnomAD v4 |
| 6 | g.33192199T>A | CA449853467 | COL11A2 | c.42A>T (p.Leu14=) c.-765+826A>T (n.-765+826A>T) | |
| 6 | g.33192199T>C | CA449853468 | COL11A2 | c.42A>G (p.Leu14=) c.-765+826A>G (n.-765+826A>G) | ClinVar gnomAD v4 |
| 6 | g.33192199T>G | CA3751771 | COL11A2 | c.42A>C (p.Leu14=) c.-765+826A>C (n.-765+826A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33192199T= | CA1619905577 | COL11A2 | c.42A= (p.Leu14=) c.-765+826A= (n.-765+826A=) | |
| 6 | g.33192199_33192202delinsTAGG | CA1619905576 | COL11A2 | c.39_42delinsCCTA (p.Leu13=) c.-765+823_-765+826delinsCCTA (n.-765+823_-765+826delinsCCTA) | |
| 6 | g.33192200del | CA2678231408 | COL11A2 | c.41del (p.Leu14HisfsTer7) c.-765+825del (n.-765+825del) | gnomAD v4 |
| 6 | g.33192200A= | CA1619905578 | COL11A2 | c.41T= (p.Leu14=) c.-765+825T= (n.-765+825T=) | |
| 6 | g.33192200A>C | CA363614987 | COL11A2 | c.41T>G (p.Leu14Arg) c.-765+825T>G (n.-765+825T>G) | |
| 6 | g.33192200A>G | CA363614994 | COL11A2 | c.41T>C (p.Leu14Pro) c.-765+825T>C (n.-765+825T>C) | dbSNP gnomAD v4 |
| 6 | g.33192200A>T | CA363614992 | COL11A2 | c.41T>A (p.Leu14Gln) c.-765+825T>A (n.-765+825T>A) | |
| 6 | g.33192212_33192214dup | CA824014452 | COL11A2 | c.39_41dup (p.Leu14_Pro15insLeu) c.-765+823_-765+825dup (n.-765+823_-765+825dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192209_33192214dup | CA2678231407 | COL11A2 | c.36_41dup (p.Leu14_Pro15insLeuLeu) c.-765+820_-765+825dup (n.-765+820_-765+825dup) | gnomAD v4 |
| 6 | g.33192212_33192214del | CA3751770 | COL11A2 | c.39_41del (p.Leu14del) c.-765+823_-765+825del (n.-765+823_-765+825del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33192209_33192214del | CA2678231409 | COL11A2 | c.36_41del (p.Leu13_Leu14del) c.-765+820_-765+825del (n.-765+820_-765+825del) | gnomAD v4 |
| 6 | g.33192201G>A | CA449853469 | COL11A2 | c.40C>T (p.Leu14=) c.-765+824C>T (n.-765+824C>T) | gnomAD v4 |
| 6 | g.33192201G>C | CA363614996 | COL11A2 | c.40C>G (p.Leu14Val) c.-765+824C>G (n.-765+824C>G) | |
| 6 | g.33192201G>T | CA363614998 | COL11A2 | c.40C>A (p.Leu14Ile) c.-765+824C>A (n.-765+824C>A) | gnomAD v4 |
| 6 | g.33192202G>A | CA449853472 | COL11A2 | c.39C>T (p.Leu13=) c.-765+823C>T (n.-765+823C>T) | gnomAD v4 |
| 6 | g.33192202G>C | CA449853470 | COL11A2 | c.39C>G (p.Leu13=) c.-765+823C>G (n.-765+823C>G) | |
| 6 | g.33192202G>T | CA449853471 | COL11A2 | c.39C>A (p.Leu13=) c.-765+823C>A (n.-765+823C>A) | gnomAD v4 |
| 6 | g.33192203A>C | CA363615000 | COL11A2 | c.38T>G (p.Leu13Arg) c.-765+822T>G (n.-765+822T>G) | |
| 6 | g.33192203A>G | CA363615007 | COL11A2 | c.38T>C (p.Leu13Pro) c.-765+822T>C (n.-765+822T>C) | gnomAD v4 |
| 6 | g.33192203A>T | CA363615010 | COL11A2 | c.38T>A (p.Leu13His) c.-765+822T>A (n.-765+822T>A) | |
| 6 | g.33192204G>A | CA363615012 | COL11A2 | c.37C>T (p.Leu13Phe) c.-765+821C>T (n.-765+821C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192204G>C | CA363615014 | COL11A2 | c.37C>G (p.Leu13Val) c.-765+821C>G (n.-765+821C>G) | |
| 6 | g.33192204G= | CA1619905579 | COL11A2 | c.37C= (p.Leu13=) c.-765+821C= (n.-765+821C=) | |
| 6 | g.33192204G>T | CA363615016 | COL11A2 | c.37C>A (p.Leu13Ile) c.-765+821C>A (n.-765+821C>A) | gnomAD v4 |
| 6 | g.33192205G>A | CA449853473 | COL11A2 | c.36C>T (p.Leu12=) c.-765+820C>T (n.-765+820C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192205G>C | CA449853474 | COL11A2 | c.36C>G (p.Leu12=) c.-765+820C>G (n.-765+820C>G) | gnomAD v4 |
| 6 | g.33192205G= | CA1619905580 | COL11A2 | c.36C= (p.Leu12=) c.-765+820C= (n.-765+820C=) | |
| 6 | g.33192205G>T | CA449853475 | COL11A2 | c.36C>A (p.Leu12=) c.-765+820C>A (n.-765+820C>A) | dbSNP gnomAD v4 |
| 6 | g.33192206A= | CA1619905581 | COL11A2 | c.35T= (p.Leu12=) c.-765+819T= (n.-765+819T=) | |
| 6 | g.33192206A>C | CA363615020 | COL11A2 | c.35T>G (p.Leu12Arg) c.-765+819T>G (n.-765+819T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192206A>G | CA363615019 | COL11A2 | c.35T>C (p.Leu12Pro) c.-765+819T>C (n.-765+819T>C) | |
| 6 | g.33192206A>T | CA363615018 | COL11A2 | c.35T>A (p.Leu12His) c.-765+819T>A (n.-765+819T>A) | |
| 6 | g.33192207G>A | CA363615021 | COL11A2 | c.34C>T (p.Leu12Phe) c.-765+818C>T (n.-765+818C>T) | dbSNP |
| 6 | g.33192207G>C | CA363615022 | COL11A2 | c.34C>G (p.Leu12Val) c.-765+818C>G (n.-765+818C>G) | |
| 6 | g.33192207G= | CA1619905582 | COL11A2 | c.34C= (p.Leu12=) c.-765+818C= (n.-765+818C=) | |
| 6 | g.33192207G>T | CA363615023 | COL11A2 | c.34C>A (p.Leu12Ile) c.-765+818C>A (n.-765+818C>A) | gnomAD v4 |
| 6 | g.33192208G>A | CA449853476 | COL11A2 | c.33C>T (p.Leu11=) c.-765+817C>T (n.-765+817C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192208G>C | CA449853477 | COL11A2 | c.33C>G (p.Leu11=) c.-765+817C>G (n.-765+817C>G) | |
| 6 | g.33192208G= | CA1619905583 | COL11A2 | c.33C= (p.Leu11=) c.-765+817C= (n.-765+817C=) | |
| 6 | g.33192208G>T | CA449853478 | COL11A2 | c.33C>A (p.Leu11=) c.-765+817C>A (n.-765+817C>A) | gnomAD v4 |
| 6 | g.33192209A>C | CA363615024 | COL11A2 | c.32T>G (p.Leu11Arg) c.-765+816T>G (n.-765+816T>G) | |
| 6 | g.33192209A>G | CA363615025 | COL11A2 | c.32T>C (p.Leu11Pro) c.-765+816T>C (n.-765+816T>C) | ClinVar dbSNP |
| 6 | g.33192209A>T | CA363615026 | COL11A2 | c.32T>A (p.Leu11His) c.-765+816T>A (n.-765+816T>A) | gnomAD v4 |
| 6 | g.33192210G>A | CA363615027 | COL11A2 | c.31C>T (p.Leu11Phe) c.-765+815C>T (n.-765+815C>T) | gnomAD v4 |
| 6 | g.33192210G>C | CA363615028 | COL11A2 | c.31C>G (p.Leu11Val) c.-765+815C>G (n.-765+815C>G) | |
| 6 | g.33192210G>T | CA363615029 | COL11A2 | c.31C>A (p.Leu11Ile) c.-765+815C>A (n.-765+815C>A) | gnomAD v4 |
| 6 | g.33192211G>A | CA449853480 | COL11A2 | c.30C>T (p.Leu10=) c.-765+814C>T (n.-765+814C>T) | gnomAD v4 |
| 6 | g.33192211G>C | CA449853481 | COL11A2 | c.30C>G (p.Leu10=) c.-765+814C>G (n.-765+814C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192211G= | CA1619905584 | COL11A2 | c.30C= (p.Leu10=) c.-765+814C= (n.-765+814C=) | |
| 6 | g.33192211G>T | CA449853479 | COL11A2 | c.30C>A (p.Leu10=) c.-765+814C>A (n.-765+814C>A) | gnomAD v4 |
| 6 | g.33192212A= | CA1619905585 | COL11A2 | c.29T= (p.Leu10=) c.-765+813T= (n.-765+813T=) | |
| 6 | g.33192212A>C | CA363615030 | COL11A2 | c.29T>G (p.Leu10Arg) c.-765+813T>G (n.-765+813T>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192212A>G | CA363615031 | COL11A2 | c.29T>C (p.Leu10Pro) c.-765+813T>C (n.-765+813T>C) | gnomAD v4 |
| 6 | g.33192212A>T | CA363615032 | COL11A2 | c.29T>A (p.Leu10His) c.-765+813T>A (n.-765+813T>A) | gnomAD v4 |
| 6 | g.33192213G>A | CA363615034 | COL11A2 | c.28C>T (p.Leu10Phe) c.-765+812C>T (n.-765+812C>T) | ClinVar gnomAD v4 |
| 6 | g.33192213G>C | CA363615035 | COL11A2 | c.28C>G (p.Leu10Val) c.-765+812C>G (n.-765+812C>G) | |
| 6 | g.33192213G>T | CA363615033 | COL11A2 | c.28C>A (p.Leu10Ile) c.-765+812C>A (n.-765+812C>A) | gnomAD v4 |
| 6 | g.33192214_33192216dup | CA824014471 | COL11A2 | c.26_28dup (p.Arg9_Leu10insArg) c.-765+810_-765+812dup (n.-765+810_-765+812dup) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192214G>A | CA449853482 | COL11A2 | c.27C>T (p.Arg9=) c.-765+811C>T (n.-765+811C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33192214G>C | CA449853483 | COL11A2 | c.27C>G (p.Arg9=) c.-765+811C>G (n.-765+811C>G) | |
| 6 | g.33192214G= | CA1619905586 | COL11A2 | c.27C= (p.Arg9=) c.-765+811C= (n.-765+811C=) | |
| 6 | g.33192214G>T | CA449853484 | COL11A2 | c.27C>A (p.Arg9=) c.-765+811C>A (n.-765+811C>A) | |
| 6 | g.33192215C>A | CA363615036 | COL11A2 | c.26G>T (p.Arg9Leu) c.-765+810G>T (n.-765+810G>T) | gnomAD v4 |
| 6 | g.33192215C= | CA1619905587 | COL11A2 | c.26G= (p.Arg9=) c.-765+810G= (n.-765+810G=) | |
| 6 | g.33192215C>G | CA363615037 | COL11A2 | c.26G>C (p.Arg9Pro) c.-765+810G>C (n.-765+810G>C) | |
| 6 | g.33192215C>T | CA363615038 | COL11A2 | c.26G>A (p.Arg9His) c.-765+810G>A (n.-765+810G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192216G>A | CA363615039 | COL11A2 | c.25C>T (p.Arg9Cys) c.-765+809C>T (n.-765+809C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192216G>C | CA363615040 | COL11A2 | c.25C>G (p.Arg9Gly) c.-765+809C>G (n.-765+809C>G) | |
| 6 | g.33192216G= | CA1619905588 | COL11A2 | c.25C= (p.Arg9=) c.-765+809C= (n.-765+809C=) | |
| 6 | g.33192216G>T | CA363615041 | COL11A2 | c.25C>A (p.Arg9Ser) c.-765+809C>A (n.-765+809C>A) | gnomAD v4 COSMIC |
| 6 | g.33192217A>C | CA363615042 | COL11A2 | c.24T>G (p.His8Gln) c.-765+808T>G (n.-765+808T>G) | |
| 6 | g.33192217A>G | CA449853485 | COL11A2 | c.24T>C (p.His8=) c.-765+808T>C (n.-765+808T>C) | gnomAD v4 |
| 6 | g.33192217A>T | CA363615043 | COL11A2 | c.24T>A (p.His8Gln) c.-765+808T>A (n.-765+808T>A) | gnomAD v4 |
| 6 | g.33192218T>A | CA363615044 | COL11A2 | c.23A>T (p.His8Leu) c.-765+807A>T (n.-765+807A>T) | gnomAD v4 |
| 6 | g.33192218T>C | CA363615045 | COL11A2 | c.23A>G (p.His8Arg) c.-765+807A>G (n.-765+807A>G) | dbSNP |
| 6 | g.33192218T>G | CA363615046 | COL11A2 | c.23A>C (p.His8Pro) c.-765+807A>C (n.-765+807A>C) | |
| 6 | g.33192218T= | CA1619905589 | COL11A2 | c.23A= (p.His8=) c.-765+807A= (n.-765+807A=) | |
| 6 | g.33192218dup | CA2678231479 | COL11A2 | c.23dup (p.His8GlnfsTer?) c.-765+807dup (n.-765+807dup) | gnomAD v4 |
| 6 | g.33192219G>A | CA363615047 | COL11A2 | c.22C>T (p.His8Tyr) c.-765+806C>T (n.-765+806C>T) | gnomAD v4 |
| 6 | g.33192219G>C | CA363615048 | COL11A2 | c.22C>G (p.His8Asp) c.-765+806C>G (n.-765+806C>G) | |
| 6 | g.33192219G>T | CA363615049 | COL11A2 | c.22C>A (p.His8Asn) c.-765+806C>A (n.-765+806C>A) | gnomAD v4 |
| 6 | g.33192220G>A | CA449853486 | COL11A2 | c.21C>T (p.Cys7=) c.-765+805C>T (n.-765+805C>T) | gnomAD v4 |
| 6 | g.33192220G>C | CA363615051 | COL11A2 | c.21C>G (p.Cys7Trp) c.-765+805C>G (n.-765+805C>G) | |
| 6 | g.33192220G>T | CA363615050 | COL11A2 | c.21C>A (p.Cys7Ter) c.-765+805C>A (n.-765+805C>A) | gnomAD v4 |
| 6 | g.33192220_33192221del | CA2697553268 | COL11A2 | c.20_21del (p.Cys7SerfsTer?) c.-765+804_-765+805del (n.-765+804_-765+805del) | ClinVar |
| 6 | g.33192221C>A | CA363615052 | COL11A2 | c.20G>T (p.Cys7Phe) c.-765+804G>T (n.-765+804G>T) | gnomAD v4 |
| 6 | g.33192221C>G | CA363615054 | COL11A2 | c.20G>C (p.Cys7Ser) c.-765+804G>C (n.-765+804G>C) | gnomAD v4 |
| 6 | g.33192221C>T | CA363615053 | COL11A2 | c.20G>A (p.Cys7Tyr) c.-765+804G>A (n.-765+804G>A) | gnomAD v4 |
| 6 | g.33192222A>C | CA363615055 | COL11A2 | c.19T>G (p.Cys7Gly) c.-765+803T>G (n.-765+803T>G) | |
| 6 | g.33192222A>G | CA363615057 | COL11A2 | c.19T>C (p.Cys7Arg) c.-765+803T>C (n.-765+803T>C) | gnomAD v4 |
| 6 | g.33192222A>T | CA363615056 | COL11A2 | c.19T>A (p.Cys7Ser) c.-765+803T>A (n.-765+803T>A) | |
| 6 | g.33192223G>A | CA449853488 | COL11A2 | c.18C>T (p.Arg6=) c.-765+802C>T (n.-765+802C>T) | gnomAD v4 |
| 6 | g.33192223G>C | CA449853487 | COL11A2 | c.18C>G (p.Arg6=) c.-765+802C>G (n.-765+802C>G) | ClinVar dbSNP |
| 6 | g.33192223G>T | CA449853489 | COL11A2 | c.18C>A (p.Arg6=) c.-765+802C>A (n.-765+802C>A) | |
| 6 | g.33192224C>A | CA363615058 | COL11A2 | c.17G>T (p.Arg6Leu) c.-765+801G>T (n.-765+801G>T) | gnomAD v4 |
| 6 | g.33192224C= | CA1619905590 | COL11A2 | c.17G= (p.Arg6=) c.-765+801G= (n.-765+801G=) | |
| 6 | g.33192224C>G | CA363615059 | COL11A2 | c.17G>C (p.Arg6Pro) c.-765+801G>C (n.-765+801G>C) | gnomAD v4 |
| 6 | g.33192224C>T | CA137054924 | COL11A2 | c.17G>A (p.Arg6His) c.-765+801G>A (n.-765+801G>A) | dbSNP gnomAD v4 |
| 6 | g.33192225G>A | CA363615060 | COL11A2 | c.16C>T (p.Arg6Cys) c.-765+800C>T (n.-765+800C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33192225G>C | CA363615061 | COL11A2 | c.16C>G (p.Arg6Gly) c.-765+800C>G (n.-765+800C>G) | ClinVar dbSNP |
| 6 | g.33192225G= | CA1619905591 | COL11A2 | c.16C= (p.Arg6=) c.-765+800C= (n.-765+800C=) | |
| 6 | g.33192225G>T | CA363615062 | COL11A2 | c.16C>A (p.Arg6Ser) c.-765+800C>A (n.-765+800C>A) | ClinVar gnomAD v4 |
| 6 | g.33192226G>A | CA3751772 | COL11A2 | c.15C>T (p.Ser5=) c.-765+799C>T (n.-765+799C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192226G>C | CA363615063 | COL11A2 | c.15C>G (p.Ser5Arg) c.-765+799C>G (n.-765+799C>G) | |
| 6 | g.33192226G= | CA1619905592 | COL11A2 | c.15C= (p.Ser5=) c.-765+799C= (n.-765+799C=) | |
| 6 | g.33192226G>T | CA363615064 | COL11A2 | c.15C>A (p.Ser5Arg) c.-765+799C>A (n.-765+799C>A) | gnomAD v4 |
| 6 | g.33192227C>A | CA363615065 | COL11A2 | c.14G>T (p.Ser5Ile) c.-765+798G>T (n.-765+798G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192227C= | CA1619905593 | COL11A2 | c.14G= (p.Ser5=) c.-765+798G= (n.-765+798G=) | |
| 6 | g.33192227C>G | CA363615066 | COL11A2 | c.14G>C (p.Ser5Thr) c.-765+798G>C (n.-765+798G>C) | |
| 6 | g.33192227C>T | CA363615067 | COL11A2 | c.14G>A (p.Ser5Asn) c.-765+798G>A (n.-765+798G>A) | |
| 6 | g.33192228T>A | CA363615070 | COL11A2 | c.13A>T (p.Ser5Cys) c.-765+797A>T (n.-765+797A>T) | |
| 6 | g.33192228T>C | CA363615068 | COL11A2 | c.13A>G (p.Ser5Gly) c.-765+797A>G (n.-765+797A>G) | gnomAD v4 |
| 6 | g.33192228T>G | CA363615069 | COL11A2 | c.13A>C (p.Ser5Arg) c.-765+797A>C (n.-765+797A>C) | |
| 6 | g.33192229G>A | CA137054928 | COL11A2 | c.12C>T (p.Cys4=) c.-765+796C>T (n.-765+796C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192229G>C | CA363615071 | COL11A2 | c.12C>G (p.Cys4Trp) c.-765+796C>G (n.-765+796C>G) | |
| 6 | g.33192229G= | CA1619905594 | COL11A2 | c.12C= (p.Cys4=) c.-765+796C= (n.-765+796C=) | |
| 6 | g.33192229G>T | CA363615072 | COL11A2 | c.12C>A (p.Cys4Ter) c.-765+796C>A (n.-765+796C>A) | gnomAD v4 |
| 6 | g.33192230C>A | CA363615073 | COL11A2 | c.11G>T (p.Cys4Phe) c.-765+795G>T (n.-765+795G>T) | gnomAD v4 |
| 6 | g.33192230C>G | CA363615074 | COL11A2 | c.11G>C (p.Cys4Ser) c.-765+795G>C (n.-765+795G>C) | |
| 6 | g.33192230C>T | CA363615075 | COL11A2 | c.11G>A (p.Cys4Tyr) c.-765+795G>A (n.-765+795G>A) | gnomAD v4 |
| 6 | g.33192231A>C | CA363615076 | COL11A2 | c.10T>G (p.Cys4Gly) c.-765+794T>G (n.-765+794T>G) | |
| 6 | g.33192231A>G | CA363615077 | COL11A2 | c.10T>C (p.Cys4Arg) c.-765+794T>C (n.-765+794T>C) | gnomAD v4 |
| 6 | g.33192231A>T | CA363615078 | COL11A2 | c.10T>A (p.Cys4Ser) c.-765+794T>A (n.-765+794T>A) | |
| 6 | g.33192232C>A | CA449853490 | COL11A2 | c.9G>T (p.Arg3=) c.-765+793G>T (n.-765+793G>T) | gnomAD v4 |
| 6 | g.33192232C= | CA1619905595 | COL11A2 | c.9G= (p.Arg3=) c.-765+793G= (n.-765+793G=) | |
| 6 | g.33192232C>G | CA449853491 | COL11A2 | c.9G>C (p.Arg3=) c.-765+793G>C (n.-765+793G>C) | |
| 6 | g.33192232C>T | CA449853492 | COL11A2 | c.9G>A (p.Arg3=) c.-765+793G>A (n.-765+793G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192233C>A | CA363615079 | COL11A2 | c.8G>T (p.Arg3Leu) c.-765+792G>T (n.-765+792G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33192233C= | CA1619905596 | COL11A2 | c.8G= (p.Arg3=) c.-765+792G= (n.-765+792G=) | |
| 6 | g.33192233C>G | CA363615080 | COL11A2 | c.8G>C (p.Arg3Pro) c.-765+792G>C (n.-765+792G>C) | gnomAD v4 |
| 6 | g.33192233C>T | CA363615081 | COL11A2 | c.8G>A (p.Arg3Gln) c.-765+792G>A (n.-765+792G>A) | gnomAD v4 |
| 6 | g.33192234G>A | CA363615082 | COL11A2 | c.7C>T (p.Arg3Trp) c.-765+791C>T (n.-765+791C>T) | gnomAD v4 |
| 6 | g.33192234G>C | CA363615083 | COL11A2 | c.7C>G (p.Arg3Gly) c.-765+791C>G (n.-765+791C>G) | gnomAD v4 |
| 6 | g.33192234G>T | CA449853493 | COL11A2 | c.7C>A (p.Arg3=) c.-765+791C>A (n.-765+791C>A) | dbSNP gnomAD v4 |
| 6 | g.33192235C>A | CA363615084 | COL11A2 | c.6G>T (p.Glu2Asp) c.-765+790G>T (n.-765+790G>T) | gnomAD v4 |
| 6 | g.33192235C>G | CA363615085 | COL11A2 | c.6G>C (p.Glu2Asp) c.-765+790G>C (n.-765+790G>C) | |
| 6 | g.33192235C>T | CA449853494 | COL11A2 | c.6G>A (p.Glu2=) c.-765+790G>A (n.-765+790G>A) | gnomAD v4 |
| 6 | g.33192236T>A | CA363615086 | COL11A2 | c.5A>T (p.Glu2Val) c.-765+789A>T (n.-765+789A>T) | gnomAD v4 |
| 6 | g.33192236T>C | CA3751773 | COL11A2 | c.5A>G (p.Glu2Gly) c.-765+789A>G (n.-765+789A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33192236T>G | CA363615087 | COL11A2 | c.5A>C (p.Glu2Ala) c.-765+789A>C (n.-765+789A>C) | |
| 6 | g.33192236T= | CA1619905597 | COL11A2 | c.5A= (p.Glu2=) c.-765+789A= (n.-765+789A=) |