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 |
|---|---|---|---|---|---|
| 2 | g.188996436_189001956del | CA916081383 | COL3A1 | c.1602_2293-342del c.1701_2392-342del | ClinVar |
| 2 | g.188999894_189002903del | CA2740096382 | COL3A1 | c.2183_2347-52del c.2282_2446-52del | ClinVar |
| 2 | g.188999894_189002899del | CA2740096383 | COL3A1 | c.2183_2347-56del c.2282_2446-56del | ClinVar |
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189001469T>A | CA647397741 | COL3A1 | c.2238+19T>A (n.2238+19T>A) c.2337+19T>A (n.2337+19T>A) | COSMIC |
| 2 | g.189001469T>G | CA538448791 | COL3A1 | c.2238+19T>G (n.2238+19T>G) c.2337+19T>G (n.2337+19T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001469T= | CA1315401880 | COL3A1 | c.2238+19T= (n.2238+19T=) c.2337+19T= (n.2337+19T=) | |
| 2 | g.189001472A>G | CA2525986959 | COL3A1 | c.2238+22A>G (n.2238+22A>G) c.2337+22A>G (n.2337+22A>G) | |
| 2 | g.189001473T>A | CA075212 | COL3A1 | c.2238+23T>A (n.2238+23T>A) c.2337+23T>A (n.2337+23T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001473T>C | CA1315401883 | COL3A1 | c.2238+23T>C (n.2238+23T>C) c.2337+23T>C (n.2337+23T>C) | dbSNP |
| 2 | g.189001473T>G | CA1315401881 | COL3A1 | c.2238+23T>G (n.2238+23T>G) c.2337+23T>G (n.2337+23T>G) | dbSNP gnomAD v4 |
| 2 | g.189001473T= | CA1315401882 | COL3A1 | c.2238+23T= (n.2238+23T=) c.2337+23T= (n.2337+23T=) | |
| 2 | g.189001474A= | CA1315401884 | COL3A1 | c.2238+24A= (n.2238+24A=) c.2337+24A= (n.2337+24A=) | |
| 2 | g.189001474A>G | CA2662309370 | COL3A1 | c.2238+24A>G (n.2238+24A>G) c.2337+24A>G (n.2337+24A>G) | gnomAD v4 |
| 2 | g.189001474A>T | CA430310961 | COL3A1 | c.2238+24A>T (n.2238+24A>T) c.2337+24A>T (n.2337+24A>T) | dbSNP gnomAD v4 |
| 2 | g.189001476A= | CA1315401885 | COL3A1 | c.2238+26A= (n.2238+26A=) c.2337+26A= (n.2337+26A=) | |
| 2 | g.189001476A>G | CA075213 | COL3A1 | c.2238+26A>G (n.2238+26A>G) c.2337+26A>G (n.2337+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001477A= | CA1315401886 | COL3A1 | c.2238+27A= (n.2238+27A=) c.2337+27A= (n.2337+27A=) | |
| 2 | g.189001477A>T | CA1315401887 | COL3A1 | c.2238+27A>T (n.2238+27A>T) c.2337+27A>T (n.2337+27A>T) | dbSNP |
| 2 | g.189001479A= | CA1315401889 | COL3A1 | c.2238+29A= (n.2238+29A=) c.2337+29A= (n.2337+29A=) | |
| 2 | g.189001479A>G | CA1315401888 | COL3A1 | c.2238+29A>G (n.2238+29A>G) c.2337+29A>G (n.2337+29A>G) | dbSNP gnomAD v4 |
| 2 | g.189001482A>G | CA2662309371 | COL3A1 | c.2238+32A>G (n.2238+32A>G) c.2337+32A>G (n.2337+32A>G) | gnomAD v4 |
| 2 | g.189001485A= | CA1315401890 | COL3A1 | c.2238+35A= (n.2238+35A=) c.2337+35A= (n.2337+35A=) | |
| 2 | g.189001485A>G | CA1315401891 | COL3A1 | c.2238+35A>G (n.2238+35A>G) c.2337+35A>G (n.2337+35A>G) | dbSNP |
| 2 | g.189001487G>A | CA075215 | COL3A1 | c.2238+37G>A (n.2238+37G>A) c.2337+37G>A (n.2337+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001487G>C | CA1315401893 | COL3A1 | c.2238+37G>C (n.2238+37G>C) c.2337+37G>C (n.2337+37G>C) | dbSNP |
| 2 | g.189001487G= | CA1315401892 | COL3A1 | c.2238+37G= (n.2238+37G=) c.2337+37G= (n.2337+37G=) | |
| 2 | g.189001487G>T | CA762201767 | COL3A1 | c.2238+37G>T (n.2238+37G>T) c.2337+37G>T (n.2337+37G>T) | dbSNP |
| 2 | g.189001489C= | CA1315401894 | COL3A1 | c.2238+39C= (n.2238+39C=) c.2337+39C= (n.2337+39C=) | |
| 2 | g.189001489C>T | CA762201771 | COL3A1 | c.2238+39C>T (n.2238+39C>T) c.2337+39C>T (n.2337+39C>T) | dbSNP gnomAD v4 |
| 2 | g.189001490T>A | CA2662309372 | COL3A1 | c.2238+40T>A (n.2238+40T>A) c.2337+40T>A (n.2337+40T>A) | gnomAD v4 |
| 2 | g.189001493C= | CA1315401895 | COL3A1 | c.2239-43C= (n.2239-43C=) c.2338-43C= (n.2338-43C=) | |
| 2 | g.189001493C>G | CA075216 | COL3A1 | c.2239-43C>G (n.2239-43C>G) c.2338-43C>G (n.2338-43C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001493C>T | CA538448792 | COL3A1 | c.2239-43C>T (n.2239-43C>T) c.2338-43C>T (n.2338-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001494T>C | CA1315401896 | COL3A1 | c.2239-42T>C (n.2239-42T>C) c.2338-42T>C (n.2338-42T>C) | dbSNP |
| 2 | g.189001494T= | CA1315401897 | COL3A1 | c.2239-42T= (n.2239-42T=) c.2338-42T= (n.2338-42T=) | |
| 2 | g.189001495C= | CA1315401898 | COL3A1 | c.2239-41C= (n.2239-41C=) c.2338-41C= (n.2338-41C=) | |
| 2 | g.189001495C>G | CA538448793 | COL3A1 | c.2239-41C>G (n.2239-41C>G) c.2338-41C>G (n.2338-41C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001495C>T | CA62555638 | COL3A1 | c.2239-41C>T (n.2239-41C>T) c.2338-41C>T (n.2338-41C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001499del | CA2662309373 | COL3A1 | c.2239-37del (n.2239-37del) c.2338-37del (n.2338-37del) | gnomAD v4 |
| 2 | g.189001497T>C | CA2662309374 | COL3A1 | c.2239-39T>C (n.2239-39T>C) c.2338-39T>C (n.2338-39T>C) | gnomAD v4 |
| 2 | g.189001499T>C | CA2577185694 | COL3A1 | c.2239-37T>C (n.2239-37T>C) c.2338-37T>C (n.2338-37T>C) | |
| 2 | g.189001499T>G | CA2662309375 | COL3A1 | c.2239-37T>G (n.2239-37T>G) c.2338-37T>G (n.2338-37T>G) | gnomAD v4 |
| 2 | g.189001500G>T | CA2577185695 | COL3A1 | c.2239-36G>T (n.2239-36G>T) c.2338-36G>T (n.2338-36G>T) | |
| 2 | g.189001501G>A | CA62555640 | COL3A1 | c.2239-35G>A (n.2239-35G>A) c.2338-35G>A (n.2338-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189001501G>C | CA075231 | COL3A1 | c.2239-35G>C (n.2239-35G>C) c.2338-35G>C (n.2338-35G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001501G= | CA1315401899 | COL3A1 | c.2239-35G= (n.2239-35G=) c.2338-35G= (n.2338-35G=) | |
| 2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
| 2 | g.189001503T>C | CA1315401901 | COL3A1 | c.2239-33T>C (n.2239-33T>C) c.2338-33T>C (n.2338-33T>C) | dbSNP |
| 2 | g.189001503T= | CA1315401900 | COL3A1 | c.2239-33T= (n.2239-33T=) c.2338-33T= (n.2338-33T=) | |
| 2 | g.189001505C= | CA1315401902 | COL3A1 | c.2239-31C= (n.2239-31C=) c.2338-31C= (n.2338-31C=) | |
| 2 | g.189001505C>G | CA075228 | COL3A1 | c.2239-31C>G (n.2239-31C>G) c.2338-31C>G (n.2338-31C>G) | dbSNP ExAC gnomAD v4 |
| 2 | g.189001508G>C | CA62555644 | COL3A1 | c.2239-28G>C (n.2239-28G>C) c.2338-28G>C (n.2338-28G>C) | dbSNP gnomAD v4 |
| 2 | g.189001508G= | CA1315401903 | COL3A1 | c.2239-28G= (n.2239-28G=) c.2338-28G= (n.2338-28G=) | |
| 2 | g.189001509A= | CA1315401904 | COL3A1 | c.2239-27A= (n.2239-27A=) c.2338-27A= (n.2338-27A=) | |
| 2 | g.189001509A>G | CA538448794 | COL3A1 | c.2239-27A>G (n.2239-27A>G) c.2338-27A>G (n.2338-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001510C= | CA1315401905 | COL3A1 | c.2239-26C= (n.2239-26C=) c.2338-26C= (n.2338-26C=) | |
| 2 | g.189001510C>T | CA075225 | COL3A1 | c.2239-26C>T (n.2239-26C>T) c.2338-26C>T (n.2338-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001511A>C | CA2662309376 | COL3A1 | c.2239-25A>C (n.2239-25A>C) c.2338-25A>C (n.2338-25A>C) | gnomAD v4 |
| 2 | g.189001514G>C | CA62555645 | COL3A1 | c.2239-22G>C (n.2239-22G>C) c.2338-22G>C (n.2338-22G>C) | dbSNP |
| 2 | g.189001514G= | CA1315401906 | COL3A1 | c.2239-22G= (n.2239-22G=) c.2338-22G= (n.2338-22G=) | |
| 2 | g.189001515A= | CA1315401907 | COL3A1 | c.2239-21A= (n.2239-21A=) c.2338-21A= (n.2338-21A=) | |
| 2 | g.189001515A>G | CA2662309377 | COL3A1 | c.2239-21A>G (n.2239-21A>G) c.2338-21A>G (n.2338-21A>G) | gnomAD v4 |
| 2 | g.189001515A>T | CA075224 | COL3A1 | c.2239-21A>T (n.2239-21A>T) c.2338-21A>T (n.2338-21A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001517A>G | CA2577185696 | COL3A1 | c.2239-19A>G (n.2239-19A>G) c.2338-19A>G (n.2338-19A>G) | |
| 2 | g.189001518T>C | CA538448795 | COL3A1 | c.2239-18T>C (n.2239-18T>C) c.2338-18T>C (n.2338-18T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001518T= | CA1315401908 | COL3A1 | c.2239-18T= (n.2239-18T=) c.2338-18T= (n.2338-18T=) | |
| 2 | g.189001519G>A | CA762201799 | COL3A1 | c.2239-17G>A (n.2239-17G>A) c.2338-17G>A (n.2338-17G>A) | dbSNP |
| 2 | g.189001519G= | CA1315401909 | COL3A1 | c.2239-17G= (n.2239-17G=) c.2338-17G= (n.2338-17G=) | |
| 2 | g.189001520G>T | CA2662309378 | COL3A1 | c.2239-16G>T (n.2239-16G>T) c.2338-16G>T (n.2338-16G>T) | gnomAD v4 |
| 2 | g.189001523T>C | CA2662309379 | COL3A1 | c.2239-13T>C (n.2239-13T>C) c.2338-13T>C (n.2338-13T>C) | gnomAD v4 |
| 2 | g.189001524C= | CA1315401910 | COL3A1 | c.2239-12C= (n.2239-12C=) c.2338-12C= (n.2338-12C=) | |
| 2 | g.189001524C>G | CA2606991804 | COL3A1 | c.2239-12C>G (n.2239-12C>G) c.2338-12C>G (n.2338-12C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189001524C>T | CA075221 | COL3A1 | c.2239-12C>T (n.2239-12C>T) c.2338-12C>T (n.2338-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001527T>C | CA2662309380 | COL3A1 | c.2239-9T>C (n.2239-9T>C) c.2338-9T>C (n.2338-9T>C) | gnomAD v4 |
| 2 | g.189001529T>C | CA913187985 | COL3A1 | c.2239-7T>C (n.2239-7T>C) c.2338-7T>C (n.2338-7T>C) | ClinVar dbSNP |
| 2 | g.189001529T= | CA1315401911 | COL3A1 | c.2239-7T= (n.2239-7T=) c.2338-7T= (n.2338-7T=) | |
| 2 | g.189001531T>G | CA2662309381 | COL3A1 | c.2239-5T>G (n.2239-5T>G) c.2338-5T>G (n.2338-5T>G) | gnomAD v4 |
| 2 | g.189001532C= | CA1315401912 | COL3A1 | c.2239-4C= (n.2239-4C=) c.2338-4C= (n.2338-4C=) | |
| 2 | g.189001532C>T | CA538448796 | COL3A1 | c.2239-4C>T (n.2239-4C>T) c.2338-4C>T (n.2338-4C>T) | dbSNP gnomAD v2 |
| 2 | g.189001533C= | CA1315401913 | COL3A1 | c.2239-3C= (n.2239-3C=) c.2338-3C= (n.2338-3C=) | |
| 2 | g.189001533C>T | CA538448797 | COL3A1 | c.2239-3C>T (n.2239-3C>T) c.2338-3C>T (n.2338-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001534A= | CA1315401914 | COL3A1 | c.2239-2A= (n.2239-2A=) c.2338-2A= (n.2338-2A=) | |
| 2 | g.189001534A>C | CA349842451 | COL3A1 | c.2239-2A>C (n.2239-2A>C) c.2338-2A>C (n.2338-2A>C) | |
| 2 | g.189001534A>G | CA005344 | COL3A1 | c.2239-2A>G (n.2239-2A>G) c.2338-2A>G (n.2338-2A>G) | ClinVar dbSNP |
| 2 | g.189001534A>T | CA349842452 | COL3A1 | c.2239-2A>T (n.2239-2A>T) c.2338-2A>T (n.2338-2A>T) | |
| 2 | g.189001535G>A | CA349842453 | COL3A1 | c.2239-1G>A (n.2239-1G>A) c.2338-1G>A (n.2338-1G>A) | COSMIC |
| 2 | g.189001535G>C | CA349842454 | COL3A1 | c.2239-1G>C (n.2239-1G>C) c.2338-1G>C (n.2338-1G>C) | |
| 2 | g.189001535G>T | CA349842455 | COL3A1 | c.2239-1G>T (n.2239-1G>T) c.2338-1G>T (n.2338-1G>T) | |
| 2 | g.189001536G>A | CA349842456 | COL3A1 | c.2239G>A (p.Gly747Ser) c.2338G>A (p.Gly780Ser) | |
| 2 | g.189001536G>C | CA349842457 | COL3A1 | c.2239G>C (p.Gly747Arg) c.2338G>C (p.Gly780Arg) | |
| 2 | g.189001536G>T | CA349842458 | COL3A1 | c.2239G>T (p.Gly747Cys) c.2338G>T (p.Gly780Cys) | COSMIC COSMIC |
| 2 | g.189001537G>A | CA349842459 | COL3A1 | c.2240G>A (p.Gly747Asp) c.2339G>A (p.Gly780Asp) | |
| 2 | g.189001537G>C | CA349842460 | COL3A1 | c.2240G>C (p.Gly747Ala) c.2339G>C (p.Gly780Ala) | |
| 2 | g.189001537G>T | CA349842461 | COL3A1 | c.2240G>T (p.Gly747Val) c.2339G>T (p.Gly780Val) | |
| 2 | g.189001538T>A | CA430310975 | COL3A1 | c.2241T>A (p.Gly747=) c.2340T>A (p.Gly780=) | |
| 2 | g.189001538T>C | CA430310976 | COL3A1 | c.2241T>C (p.Gly747=) c.2340T>C (p.Gly780=) | |
| 2 | g.189001538T>G | CA430310977 | COL3A1 | c.2241T>G (p.Gly747=) c.2340T>G (p.Gly780=) | dbSNP |
| 2 | g.189001538T= | CA1315401915 | COL3A1 | c.2241T= (p.Gly747=) c.2340T= (p.Gly780=) | |
| 2 | g.189001539G>A | CA075235 | COL3A1 | c.2242G>A (p.Glu748Lys) c.2341G>A (p.Glu781Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001539G>C | CA349842462 | COL3A1 | c.2242G>C (p.Glu748Gln) c.2341G>C (p.Glu781Gln) | |
| 2 | g.189001539G= | CA1315401916 | COL3A1 | c.2242G= (p.Glu748=) c.2341G= (p.Glu781=) | |
| 2 | g.189001539G>T | CA349842463 | COL3A1 | c.2242G>T (p.Glu748Ter) c.2341G>T (p.Glu781Ter) | |
| 2 | g.189001540A>C | CA349842464 | COL3A1 | c.2243A>C (p.Glu748Ala) c.2342A>C (p.Glu781Ala) | |
| 2 | g.189001540A>G | CA349842465 | COL3A1 | c.2243A>G (p.Glu748Gly) c.2342A>G (p.Glu781Gly) | |
| 2 | g.189001540A>T | CA349842466 | COL3A1 | c.2243A>T (p.Glu748Val) c.2342A>T (p.Glu781Val) | |
| 2 | g.189001541A= | CA1315401917 | COL3A1 | c.2244A= (p.Glu748=) c.2343A= (p.Glu781=) | |
| 2 | g.189001541A>C | CA349842467 | COL3A1 | c.2244A>C (p.Glu748Asp) c.2343A>C (p.Glu781Asp) | |
| 2 | g.189001541A>G | CA62555659 | COL3A1 | c.2244A>G (p.Glu748=) c.2343A>G (p.Glu781=) | dbSNP gnomAD v4 |
| 2 | g.189001541A>T | CA349842468 | COL3A1 | c.2244A>T (p.Glu748Asp) c.2343A>T (p.Glu781Asp) | |
| 2 | g.189001542G>A | CA349842469 | COL3A1 | c.2245G>A (p.Gly749Ser) c.2344G>A (p.Gly782Ser) | ClinVar |
| 2 | g.189001542G>C | CA349842470 | COL3A1 | c.2245G>C (p.Gly749Arg) c.2344G>C (p.Gly782Arg) | |
| 2 | g.189001542G>T | CA349842471 | COL3A1 | c.2245G>T (p.Gly749Cys) c.2344G>T (p.Gly782Cys) | |
| 2 | g.189001543G>A | CA349842472 | COL3A1 | c.2246G>A (p.Gly749Asp) c.2345G>A (p.Gly782Asp) | |
| 2 | g.189001543G>C | CA349842473 | COL3A1 | c.2246G>C (p.Gly749Ala) c.2345G>C (p.Gly782Ala) | ClinVar dbSNP |
| 2 | g.189001543G>T | CA349842474 | COL3A1 | c.2246G>T (p.Gly749Val) c.2345G>T (p.Gly782Val) | gnomAD v4 |
| 2 | g.189001544T>A | CA430310988 | COL3A1 | c.2247T>A (p.Gly749=) c.2346T>A (p.Gly782=) | |
| 2 | g.189001544T>C | CA430310985 | COL3A1 | c.2247T>C (p.Gly749=) c.2346T>C (p.Gly782=) | |
| 2 | g.189001544T>G | CA430310986 | COL3A1 | c.2247T>G (p.Gly749=) c.2346T>G (p.Gly782=) | dbSNP |
| 2 | g.189001544T= | CA1315401918 | COL3A1 | c.2247T= (p.Gly749=) c.2346T= (p.Gly782=) | |
| 2 | g.189001545G>A | CA349842476 | COL3A1 | c.2248G>A (p.Gly750Ser) c.2347G>A (p.Gly783Ser) | |
| 2 | g.189001545G>C | CA349842477 | COL3A1 | c.2248G>C (p.Gly750Arg) c.2347G>C (p.Gly783Arg) | |
| 2 | g.189001545G>T | CA349842475 | COL3A1 | c.2248G>T (p.Gly750Cys) c.2347G>T (p.Gly783Cys) | |
| 2 | g.189001546G>A | CA349842479 | COL3A1 | c.2249G>A (p.Gly750Asp) c.2348G>A (p.Gly783Asp) | |
| 2 | g.189001546G>C | CA349842478 | COL3A1 | c.2249G>C (p.Gly750Ala) c.2348G>C (p.Gly783Ala) | |
| 2 | g.189001546G>T | CA349842480 | COL3A1 | c.2249G>T (p.Gly750Val) c.2348G>T (p.Gly783Val) | |
| 2 | g.189001547T>A | CA430310991 | COL3A1 | c.2250T>A (p.Gly750=) c.2349T>A (p.Gly783=) | |
| 2 | g.189001547T>C | CA430310993 | COL3A1 | c.2250T>C (p.Gly750=) c.2349T>C (p.Gly783=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001547T>G | CA430310990 | COL3A1 | c.2250T>G (p.Gly750=) c.2349T>G (p.Gly783=) | |
| 2 | g.189001547T= | CA1315401919 | COL3A1 | c.2250T= (p.Gly750=) c.2349T= (p.Gly783=) | |
| 2 | g.189001548G>A | CA349842481 | COL3A1 | c.2251G>A (p.Ala751Thr) c.2350G>A (p.Ala784Thr) | ClinVar gnomAD v4 |
| 2 | g.189001548G>C | CA349842483 | COL3A1 | c.2251G>C (p.Ala751Pro) c.2350G>C (p.Ala784Pro) | |
| 2 | g.189001548G>T | CA349842482 | COL3A1 | c.2251G>T (p.Ala751Ser) c.2350G>T (p.Ala784Ser) | |
| 2 | g.189001549C>A | CA349842484 | COL3A1 | c.2252C>A (p.Ala751Asp) c.2351C>A (p.Ala784Asp) | ClinVar dbSNP |
| 2 | g.189001549C= | CA1315401920 | COL3A1 | c.2252C= (p.Ala751=) c.2351C= (p.Ala784=) | |
| 2 | g.189001549C>G | CA349842485 | COL3A1 | c.2252C>G (p.Ala751Gly) c.2351C>G (p.Ala784Gly) | |
| 2 | g.189001549C>T | CA075238 | COL3A1 | c.2252C>T (p.Ala751Val) c.2351C>T (p.Ala784Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001553dup | CA2753571818 | COL3A1 | c.2256dup (p.Gly753ArgfsTer11) c.2355dup (p.Gly786ArgfsTer11) | |
| 2 | g.189001553del | CA430310998 | COL3A1 | c.2256del (p.Gly753AspfsTer5) c.2355del (p.Gly786AspfsTer5) | COSMIC COSMIC |
| 2 | g.189001550C>A | CA430311000 | COL3A1 | c.2253C>A (p.Ala751=) c.2352C>A (p.Ala784=) | |
| 2 | g.189001550C= | CA1315401921 | COL3A1 | c.2253C= (p.Ala751=) c.2352C= (p.Ala784=) | |
| 2 | g.189001550C>G | CA430311002 | COL3A1 | c.2253C>G (p.Ala751=) c.2352C>G (p.Ala784=) | |
| 2 | g.189001550C>T | CA430311004 | COL3A1 | c.2253C>T (p.Ala751=) c.2352C>T (p.Ala784=) | dbSNP gnomAD v4 |
| 2 | g.189001551C>A | CA349842486 | COL3A1 | c.2254C>A (p.Pro752Thr) c.2353C>A (p.Pro785Thr) | |
| 2 | g.189001551C= | CA1315401922 | COL3A1 | c.2254C= (p.Pro752=) c.2353C= (p.Pro785=) | |
| 2 | g.189001551C>G | CA349842487 | COL3A1 | c.2254C>G (p.Pro752Ala) c.2353C>G (p.Pro785Ala) | gnomAD v4 |
| 2 | g.189001551C>T | CA349842488 | COL3A1 | c.2254C>T (p.Pro752Ser) c.2353C>T (p.Pro785Ser) | ClinVar dbSNP |
| 2 | g.189001552C>A | CA349842489 | COL3A1 | c.2255C>A (p.Pro752His) c.2354C>A (p.Pro785His) | |
| 2 | g.189001552C>G | CA349842490 | COL3A1 | c.2255C>G (p.Pro752Arg) c.2354C>G (p.Pro785Arg) | |
| 2 | g.189001552C>T | CA349842491 | COL3A1 | c.2255C>T (p.Pro752Leu) c.2354C>T (p.Pro785Leu) | |
| 2 | g.189001553C>A | CA430311007 | COL3A1 | c.2256C>A (p.Pro752=) c.2355C>A (p.Pro785=) | ClinVar dbSNP |
| 2 | g.189001553C= | CA1315401923 | COL3A1 | c.2256C= (p.Pro752=) c.2355C= (p.Pro785=) | |
| 2 | g.189001553C>G | CA075241 | COL3A1 | c.2256C>G (p.Pro752=) c.2355C>G (p.Pro785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001553C>T | CA075245 | COL3A1 | c.2256C>T (p.Pro752=) c.2355C>T (p.Pro785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001554G>A | CA005350 | COL3A1 | c.2257G>A (p.Gly753Arg) c.2356G>A (p.Gly786Arg) | ClinVar dbSNP |
| 2 | g.189001554G>C | CA349842493 | COL3A1 | c.2257G>C (p.Gly753Arg) c.2356G>C (p.Gly786Arg) | |
| 2 | g.189001554G= | CA1315401924 | COL3A1 | c.2257G= (p.Gly753=) c.2356G= (p.Gly786=) | |
| 2 | g.189001554G>T | CA349842492 | COL3A1 | c.2257G>T (p.Gly753Ter) c.2356G>T (p.Gly786Ter) | |
| 2 | g.189001555G>A | CA349842494 | COL3A1 | c.2258G>A (p.Gly753Glu) c.2357G>A (p.Gly786Glu) | |
| 2 | g.189001555G>C | CA349842495 | COL3A1 | c.2258G>C (p.Gly753Ala) c.2357G>C (p.Gly786Ala) | |
| 2 | g.189001555G= | CA1315401925 | COL3A1 | c.2258G= (p.Gly753=) c.2357G= (p.Gly786=) | |
| 2 | g.189001555G>T | CA005356 | COL3A1 | c.2258G>T (p.Gly753Val) c.2357G>T (p.Gly786Val) | ClinVar dbSNP |
| 2 | g.189001556A= | CA1315401926 | COL3A1 | c.2259A= (p.Gly753=) c.2358A= (p.Gly786=) | |
| 2 | g.189001556A>C | CA430311010 | COL3A1 | c.2259A>C (p.Gly753=) c.2358A>C (p.Gly786=) | |
| 2 | g.189001556A>G | CA430311011 | COL3A1 | c.2259A>G (p.Gly753=) c.2358A>G (p.Gly786=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001556A>T | CA430311012 | COL3A1 | c.2259A>T (p.Gly753=) c.2358A>T (p.Gly786=) | |
| 2 | g.189001557C>A | CA349842496 | COL3A1 | c.2260C>A (p.Leu754Ile) c.2359C>A (p.Leu787Ile) | ClinVar gnomAD v4 |
| 2 | g.189001557C>G | CA349842497 | COL3A1 | c.2260C>G (p.Leu754Val) c.2359C>G (p.Leu787Val) | |
| 2 | g.189001557C>T | CA349842498 | COL3A1 | c.2260C>T (p.Leu754Phe) c.2359C>T (p.Leu787Phe) | gnomAD v4 COSMIC COSMIC |
| 2 | g.189001558T>A | CA349842499 | COL3A1 | c.2261T>A (p.Leu754His) c.2360T>A (p.Leu787His) | gnomAD v4 |
| 2 | g.189001558T>C | CA349842500 | COL3A1 | c.2261T>C (p.Leu754Pro) c.2360T>C (p.Leu787Pro) | |
| 2 | g.189001558T>G | CA349842501 | COL3A1 | c.2261T>G (p.Leu754Arg) c.2360T>G (p.Leu787Arg) | gnomAD v4 |
| 2 | g.189001559T>A | CA430311015 | COL3A1 | c.2262T>A (p.Leu754=) c.2361T>A (p.Leu787=) | |
| 2 | g.189001559T>C | CA430311017 | COL3A1 | c.2262T>C (p.Leu754=) c.2361T>C (p.Leu787=) | |
| 2 | g.189001559T>G | CA430311018 | COL3A1 | c.2262T>G (p.Leu754=) c.2361T>G (p.Leu787=) | |
| 2 | g.189001560C>A | CA349842502 | COL3A1 | c.2263C>A (p.Pro755Thr) c.2362C>A (p.Pro788Thr) | |
| 2 | g.189001560C= | CA1315401927 | COL3A1 | c.2263C= (p.Pro755=) c.2362C= (p.Pro788=) | |
| 2 | g.189001560C>G | CA349842503 | COL3A1 | c.2263C>G (p.Pro755Ala) c.2362C>G (p.Pro788Ala) | |
| 2 | g.189001560C>T | CA075252 | COL3A1 | c.2263C>T (p.Pro755Ser) c.2362C>T (p.Pro788Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189001561C>A | CA349842506 | COL3A1 | c.2264C>A (p.Pro755Gln) c.2363C>A (p.Pro788Gln) | |
| 2 | g.189001561C>G | CA349842505 | COL3A1 | c.2264C>G (p.Pro755Arg) c.2363C>G (p.Pro788Arg) | |
| 2 | g.189001561C>T | CA349842504 | COL3A1 | c.2264C>T (p.Pro755Leu) c.2363C>T (p.Pro788Leu) | |
| 2 | g.189001562A= | CA1315401928 | COL3A1 | c.2265A= (p.Pro755=) c.2364A= (p.Pro788=) | |
| 2 | g.189001562A>C | CA430311020 | COL3A1 | c.2265A>C (p.Pro755=) c.2364A>C (p.Pro788=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189001562A>G | CA10613204 | COL3A1 | c.2265A>G (p.Pro755=) c.2364A>G (p.Pro788=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189001562A>T | CA430311021 | COL3A1 | c.2265A>T (p.Pro755=) c.2364A>T (p.Pro788=) | |
| 2 | g.189001563G>A | CA349842507 | COL3A1 | c.2266G>A (p.Gly756Ser) c.2365G>A (p.Gly789Ser) | COSMIC COSMIC |
| 2 | g.189001563G>C | CA349842508 | COL3A1 | c.2266G>C (p.Gly756Arg) c.2365G>C (p.Gly789Arg) | |
| 2 | g.189001563G>T | CA349842509 | COL3A1 | c.2266G>T (p.Gly756Cys) c.2365G>T (p.Gly789Cys) | |
| 2 | g.189001564G>A | CA349842510 | COL3A1 | c.2267G>A (p.Gly756Asp) c.2366G>A (p.Gly789Asp) | |
| 2 | g.189001564G>C | CA349842511 | COL3A1 | c.2267G>C (p.Gly756Ala) c.2366G>C (p.Gly789Ala) | |
| 2 | g.189001564G>T | CA349842512 | COL3A1 | c.2267G>T (p.Gly756Val) c.2366G>T (p.Gly789Val) | |
| 2 | g.189001565T>A | CA430311022 | COL3A1 | c.2268T>A (p.Gly756=) c.2367T>A (p.Gly789=) | |
| 2 | g.189001565T>C | CA430311023 | COL3A1 | c.2268T>C (p.Gly756=) c.2367T>C (p.Gly789=) | |
| 2 | g.189001565T>G | CA430311024 | COL3A1 | c.2268T>G (p.Gly756=) c.2367T>G (p.Gly789=) | dbSNP |
| 2 | g.189001565T= | CA1315401929 | COL3A1 | c.2268T= (p.Gly756=) c.2367T= (p.Gly789=) | |
| 2 | g.189001566A= | CA1315401930 | COL3A1 | c.2269A= (p.Ile757=) c.2368A= (p.Ile790=) | |
| 2 | g.189001566A>C | CA349842513 | COL3A1 | c.2269A>C (p.Ile757Leu) c.2368A>C (p.Ile790Leu) | |
| 2 | g.189001566A>G | CA349842514 | COL3A1 | c.2269A>G (p.Ile757Val) c.2368A>G (p.Ile790Val) | dbSNP |
| 2 | g.189001566A>T | CA349842515 | COL3A1 | c.2269A>T (p.Ile757Leu) c.2368A>T (p.Ile790Leu) | |
| 2 | g.189001567T>A | CA349842516 | COL3A1 | c.2270T>A (p.Ile757Lys) c.2369T>A (p.Ile790Lys) | |
| 2 | g.189001567T>C | CA349842517 | COL3A1 | c.2270T>C (p.Ile757Thr) c.2369T>C (p.Ile790Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001567T>G | CA349842518 | COL3A1 | c.2270T>G (p.Ile757Arg) c.2369T>G (p.Ile790Arg) | |
| 2 | g.189001567T= | CA1315401931 | COL3A1 | c.2270T= (p.Ile757=) c.2369T= (p.Ile790=) | |
| 2 | g.189001568A= | CA1315401932 | COL3A1 | c.2271A= (p.Ile757=) c.2370A= (p.Ile790=) | |
| 2 | g.189001568A>C | CA430311031 | COL3A1 | c.2271A>C (p.Ile757=) c.2370A>C (p.Ile790=) | |
| 2 | g.189001568A>G | CA349842519 | COL3A1 | c.2271A>G (p.Ile757Met) c.2370A>G (p.Ile790Met) | |
| 2 | g.189001568A>T | CA430311029 | COL3A1 | c.2271A>T (p.Ile757=) c.2370A>T (p.Ile790=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189001569G>A | CA349842522 | COL3A1 | c.2272G>A (p.Ala758Thr) c.2371G>A (p.Ala791Thr) | |
| 2 | g.189001569G>C | CA349842520 | COL3A1 | c.2272G>C (p.Ala758Pro) c.2371G>C (p.Ala791Pro) | |
| 2 | g.189001569G= | CA1315401933 | COL3A1 | c.2272G= (p.Ala758=) c.2371G= (p.Ala791=) | |
| 2 | g.189001569G>T | CA349842521 | COL3A1 | c.2272G>T (p.Ala758Ser) c.2371G>T (p.Ala791Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |