Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991434_188991440dup | CA2662287792 | COL3A1 | c.853-53_853-47dup (n.853-53_853-47dup) | gnomAD v4 |
2 | g.188991431T>C | CA2662287794 | COL3A1 | c.853-56T>C (n.853-56T>C) | gnomAD v4 |
2 | g.188991432A= | CA1315396528 | COL3A1 | c.853-55A= (n.853-55A=) | |
2 | g.188991432A>T | CA62592611 | COL3A1 | c.853-55A>T (n.853-55A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991433T>C | CA2577185228 | COL3A1 | c.853-54T>C (n.853-54T>C) | gnomAD v4 |
2 | g.188991437_188991439del | CA2662287795 | COL3A1 | c.853-50_853-48del (n.853-50_853-48del) | gnomAD v4 |
2 | g.188991436A= | CA1315396532 | COL3A1 | c.853-51A= (n.853-51A=) | |
2 | g.188991436A>G | CA1315396534 | COL3A1 | c.853-51A>G (n.853-51A>G) | dbSNP gnomAD v4 |
2 | g.188991437A>C | CA2701316312 | COL3A1 | c.853-50A>C (n.853-50A>C) | dbSNP |
2 | g.188991438T>C | CA2577185229 | COL3A1 | c.853-49T>C (n.853-49T>C) | gnomAD v4 |
2 | g.188991439A>C | CA2662287796 | COL3A1 | c.853-48A>C (n.853-48A>C) | gnomAD v4 |
2 | g.188991440T>C | CA077008 | COL3A1 | c.853-47T>C (n.853-47T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991440T= | CA1315396537 | COL3A1 | c.853-47T= (n.853-47T=) | |
2 | g.188991442T>C | CA2662287797 | COL3A1 | c.853-45T>C (n.853-45T>C) | gnomAD v4 |
2 | g.188991443T>C | CA538441140 | COL3A1 | c.853-44T>C (n.853-44T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991443T>G | CA077006 | COL3A1 | c.853-44T>G (n.853-44T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991443T= | CA1315396543 | COL3A1 | c.853-44T= (n.853-44T=) | |
2 | g.188991444C>A | CA2662287799 | COL3A1 | c.853-43C>A (n.853-43C>A) | gnomAD v4 |
2 | g.188991444C= | CA1315396547 | COL3A1 | c.853-43C= (n.853-43C=) | |
2 | g.188991444C>T | CA077005 | COL3A1 | c.853-43C>T (n.853-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991445T>A | CA2577185230 | COL3A1 | c.853-42T>A (n.853-42T>A) | |
2 | g.188991445T>C | CA2662287800 | COL3A1 | c.853-42T>C (n.853-42T>C) | gnomAD v4 |
2 | g.188991446T>C | CA2662287801 | COL3A1 | c.853-41T>C (n.853-41T>C) | gnomAD v4 |
2 | g.188991447C>A | CA2662287802 | COL3A1 | c.853-40C>A (n.853-40C>A) | gnomAD v4 |
2 | g.188991447C= | CA1315396549 | COL3A1 | c.853-40C= (n.853-40C=) | |
2 | g.188991447C>T | CA077003 | COL3A1 | c.853-40C>T (n.853-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991448C>A | CA762192812 | COL3A1 | c.853-39C>A (n.853-39C>A) | dbSNP gnomAD v4 |
2 | g.188991448C= | CA1315396550 | COL3A1 | c.853-39C= (n.853-39C=) | |
2 | g.188991448C>T | CA2662287803 | COL3A1 | c.853-39C>T (n.853-39C>T) | gnomAD v4 |
2 | g.188991449T>C | CA1315396553 | COL3A1 | c.853-38T>C (n.853-38T>C) | dbSNP gnomAD v4 |
2 | g.188991449T= | CA1315396552 | COL3A1 | c.853-38T= (n.853-38T=) | |
2 | g.188991450C>A | CA2662287804 | COL3A1 | c.853-37C>A (n.853-37C>A) | gnomAD v4 |
2 | g.188991450C= | CA1315396557 | COL3A1 | c.853-37C= (n.853-37C=) | |
2 | g.188991450C>G | CA62592656 | COL3A1 | c.853-37C>G (n.853-37C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991451T>C | CA2577185231 | COL3A1 | c.853-36T>C (n.853-36T>C) | gnomAD v4 |
2 | g.188991454del | CA2662287805 | COL3A1 | c.853-33del (n.853-33del) | gnomAD v4 |
2 | g.188991453T>C | CA2662287806 | COL3A1 | c.853-34T>C (n.853-34T>C) | gnomAD v4 |
2 | g.188991455G>A | CA2662287807 | COL3A1 | c.853-32G>A (n.853-32G>A) | gnomAD v4 |
2 | g.188991458_188991477del | CA2662287808 | COL3A1 | c.853-29_853-10del (n.853-29_853-10del) | gnomAD v4 |
2 | g.188991457A>C | CA2662287810 | COL3A1 | c.853-30A>C (n.853-30A>C) | gnomAD v4 |
2 | g.188991457A>G | CA2662287811 | COL3A1 | c.853-30A>G (n.853-30A>G) | gnomAD v4 |
2 | g.188991460del | CA2662287809 | COL3A1 | c.853-27del (n.853-27del) | gnomAD v4 |
2 | g.188991458A>G | CA2662287812 | COL3A1 | c.853-29A>G (n.853-29A>G) | gnomAD v4 |
2 | g.188991460A= | CA1315396559 | COL3A1 | c.853-27A= (n.853-27A=) | |
2 | g.188991460A>G | CA077001 | COL3A1 | c.853-27A>G (n.853-27A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.188991460A>T | CA1040405390 | COL3A1 | c.853-27A>T (n.853-27A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991461T>C | CA2662287813 | COL3A1 | c.853-26T>C (n.853-26T>C) | gnomAD v4 |
2 | g.188991462A= | CA1315396560 | COL3A1 | c.853-25A= (n.853-25A=) | |
2 | g.188991462A>G | CA076999 | COL3A1 | c.853-25A>G (n.853-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991462_188991463insT | CA2662287814 | COL3A1 | c.853-25_853-24insT (n.853-25_853-24insT) | gnomAD v4 |
2 | g.188991463G>A | CA076998 | COL3A1 | c.853-24G>A (n.853-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991463G>C | CA2662287815 | COL3A1 | c.853-24G>C (n.853-24G>C) | gnomAD v4 |
2 | g.188991463G= | CA1315396562 | COL3A1 | c.853-24G= (n.853-24G=) | |
2 | g.188991464T>A | CA2662287816 | COL3A1 | c.853-23T>A (n.853-23T>A) | gnomAD v4 |
2 | g.188991464T>C | CA538441141 | COL3A1 | c.853-23T>C (n.853-23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991464T= | CA1315396565 | COL3A1 | c.853-23T= (n.853-23T=) | |
2 | g.188991465A= | CA1315396567 | COL3A1 | c.853-22A= (n.853-22A=) | |
2 | g.188991465A>G | CA1040405396 | COL3A1 | c.853-22A>G (n.853-22A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991465A>T | CA2662287817 | COL3A1 | c.853-22A>T (n.853-22A>T) | gnomAD v4 |
2 | g.188991466A>G | CA2662287818 | COL3A1 | c.853-21A>G (n.853-21A>G) | gnomAD v4 |
2 | g.188991467C>A | CA2662287819 | COL3A1 | c.853-20C>A (n.853-20C>A) | gnomAD v4 |
2 | g.188991467C= | CA1315396570 | COL3A1 | c.853-20C= (n.853-20C=) | |
2 | g.188991467C>G | CA076996 | COL3A1 | c.853-20C>G (n.853-20C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991467_188991469delinsCAT | CA1315396572 | COL3A1 | c.853-20_853-18delinsCAT (n.853-20_853-18delinsCAT) | |
2 | g.188991468del | CA2662287820 | COL3A1 | c.853-19del (n.853-19del) | gnomAD v4 |
2 | g.188991468A>G | CA2577185232 | COL3A1 | c.853-19A>G (n.853-19A>G) | ClinVar gnomAD v4 |
2 | g.188991470_188991471del | CA538441142 | COL3A1 | c.853-17_853-16del (n.853-17_853-16del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991469T>C | CA076994 | COL3A1 | c.853-18T>C (n.853-18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991469T= | CA1315396574 | COL3A1 | c.853-18T= (n.853-18T=) | |
2 | g.188991470A= | CA1315396576 | COL3A1 | c.853-17A= (n.853-17A=) | |
2 | g.188991470A>C | CA2577185233 | COL3A1 | c.853-17A>C (n.853-17A>C) | |
2 | g.188991470A>G | CA762192825 | COL3A1 | c.853-17A>G (n.853-17A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991471T>A | CA2662287822 | COL3A1 | c.853-16T>A (n.853-16T>A) | gnomAD v4 |
2 | g.188991471T>C | CA076993 | COL3A1 | c.853-16T>C (n.853-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991471T= | CA1315396577 | COL3A1 | c.853-16T= (n.853-16T=) | |
2 | g.188991474dup | CA2753572045 | COL3A1 | c.853-13dup (n.853-13dup) | |
2 | g.188991474del | CA2662287821 | COL3A1 | c.853-13del (n.853-13del) | gnomAD v4 |
2 | g.188991473T>A | CA62592705 | COL3A1 | c.853-14T>A (n.853-14T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991473T>C | CA2662287823 | COL3A1 | c.853-14T>C (n.853-14T>C) | gnomAD v4 |
2 | g.188991473T>G | CA2662287824 | COL3A1 | c.853-14T>G (n.853-14T>G) | gnomAD v4 |
2 | g.188991473T= | CA1315396580 | COL3A1 | c.853-14T= (n.853-14T=) | |
2 | g.188991474T>C | CA762192829 | COL3A1 | c.853-13T>C (n.853-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991474T= | CA1315396582 | COL3A1 | c.853-13T= (n.853-13T=) | |
2 | g.188991475A= | CA1315396584 | COL3A1 | c.853-12A= (n.853-12A=) | |
2 | g.188991475A>C | CA62592709 | COL3A1 | c.853-12A>C (n.853-12A>C) | dbSNP |
2 | g.188991475A>G | CA2662287825 | COL3A1 | c.853-12A>G (n.853-12A>G) | gnomAD v4 |
2 | g.188991475A>T | CA2662287826 | COL3A1 | c.853-12A>T (n.853-12A>T) | gnomAD v4 |
2 | g.188991477A= | CA1315396587 | COL3A1 | c.853-10A= (n.853-10A=) | |
2 | g.188991477A>C | CA913187969 | COL3A1 | c.853-10A>C (n.853-10A>C) | ClinVar dbSNP |
2 | g.188991477A>G | CA2662287827 | COL3A1 | c.853-10A>G (n.853-10A>G) | gnomAD v4 |
2 | g.188991477A>T | CA2662287828 | COL3A1 | c.853-10A>T (n.853-10A>T) | gnomAD v4 |
2 | g.188991478T>C | CA2662287829 | COL3A1 | c.853-9T>C (n.853-9T>C) | gnomAD v4 |
2 | g.188991479G>A | CA077011 | COL3A1 | c.853-8G>A (n.853-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991479G= | CA1315396589 | COL3A1 | c.853-8G= (n.853-8G=) | |
2 | g.188991480T>C | CA077009 | COL3A1 | c.853-7T>C (n.853-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991480T= | CA1315396593 | COL3A1 | c.853-7T= (n.853-7T=) | |
2 | g.188991481A>G | CA2662287830 | COL3A1 | c.853-6A>G (n.853-6A>G) | gnomAD v4 |
2 | g.188991482T>C | CA2577185234 | COL3A1 | c.853-5T>C (n.853-5T>C) | |
2 | g.188991482T>G | CA2662287831 | COL3A1 | c.853-5T>G (n.853-5T>G) | gnomAD v4 |
2 | g.188991483C>A | CA2662287832 | COL3A1 | c.853-4C>A (n.853-4C>A) | gnomAD v4 |
2 | g.188991483C= | CA1315396600 | COL3A1 | c.853-4C= (n.853-4C=) | |
2 | g.188991483C>G | CA913187970 | COL3A1 | c.853-4C>G (n.853-4C>G) | ClinVar dbSNP |
2 | g.188991483C>T | CA913187971 | COL3A1 | c.853-4C>T (n.853-4C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.188991484T>C | CA2662287833 | COL3A1 | c.853-3T>C (n.853-3T>C) | gnomAD v4 |
2 | g.188991485A>C | CA349849856 | COL3A1 | c.853-2A>C (n.853-2A>C) | |
2 | g.188991485A>G | CA349849857 | COL3A1 | c.853-2A>G (n.853-2A>G) | gnomAD v4 |
2 | g.188991485A>T | CA349849858 | COL3A1 | c.853-2A>T (n.853-2A>T) | |
2 | g.188991486G>A | CA349849861 | COL3A1 | c.853-1G>A (n.853-1G>A) | |
2 | g.188991486G>C | CA349849860 | COL3A1 | c.853-1G>C (n.853-1G>C) | |
2 | g.188991486G>T | CA349849859 | COL3A1 | c.853-1G>T (n.853-1G>T) | |
2 | g.188991487G>A | CA349849862 | COL3A1 | c.853G>A (p.Gly285Ser) | |
2 | g.188991487G>C | CA349849863 | COL3A1 | c.853G>C (p.Gly285Arg) | |
2 | g.188991487G>T | CA349849864 | COL3A1 | c.853G>T (p.Gly285Cys) | |
2 | g.188991488G>A | CA349849865 | COL3A1 | c.854G>A (p.Gly285Asp) | |
2 | g.188991488G>C | CA349849866 | COL3A1 | c.854G>C (p.Gly285Ala) | |
2 | g.188991488G>T | CA349849867 | COL3A1 | c.854G>T (p.Gly285Val) | |
2 | g.188991489T>A | CA430309156 | COL3A1 | c.855T>A (p.Gly285=) | |
2 | g.188991489T>C | CA430309157 | COL3A1 | c.855T>C (p.Gly285=) | |
2 | g.188991489T>G | CA430309158 | COL3A1 | c.855T>G (p.Gly285=) | gnomAD v4 |
2 | g.188991490G>A | CA349849868 | COL3A1 | c.856G>A (p.Glu286Lys) | gnomAD v4 |
2 | g.188991490G>C | CA349849870 | COL3A1 | c.856G>C (p.Glu286Gln) | |
2 | g.188991490G>T | CA349849869 | COL3A1 | c.856G>T (p.Glu286Ter) | |
2 | g.188991491A>C | CA349849871 | COL3A1 | c.857A>C (p.Glu286Ala) | |
2 | g.188991491A>G | CA349849872 | COL3A1 | c.857A>G (p.Glu286Gly) | |
2 | g.188991491A>T | CA349849873 | COL3A1 | c.857A>T (p.Glu286Val) | |
2 | g.188991494del | CA2662287834 | COL3A1 | c.860del (p.Asn287MetfsTer?) | gnomAD v4 |
2 | g.188991492A= | CA1315396605 | COL3A1 | c.858A= (p.Glu286=) | |
2 | g.188991492A>C | CA077013 | COL3A1 | c.858A>C (p.Glu286Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991492A>G | CA430309159 | COL3A1 | c.858A>G (p.Glu286=) | |
2 | g.188991492A>T | CA349849874 | COL3A1 | c.858A>T (p.Glu286Asp) | |
2 | g.188991493A>C | CA349849875 | COL3A1 | c.859A>C (p.Asn287His) | |
2 | g.188991493A>G | CA349849876 | COL3A1 | c.859A>G (p.Asn287Asp) | gnomAD v4 |
2 | g.188991493A>T | CA349849877 | COL3A1 | c.859A>T (p.Asn287Tyr) | |
2 | g.188991494A>C | CA349849878 | COL3A1 | c.860A>C (p.Asn287Thr) | |
2 | g.188991494A>G | CA349849879 | COL3A1 | c.860A>G (p.Asn287Ser) | |
2 | g.188991494A>T | CA349849880 | COL3A1 | c.860A>T (p.Asn287Ile) | |
2 | g.188991495T>A | CA349849881 | COL3A1 | c.861T>A (p.Asn287Lys) | |
2 | g.188991495T>C | CA430309160 | COL3A1 | c.861T>C (p.Asn287=) | |
2 | g.188991495T>G | CA349849882 | COL3A1 | c.861T>G (p.Asn287Lys) | |
2 | g.188991496G>A | CA349849883 | COL3A1 | c.862G>A (p.Gly288Ser) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188991496G>C | CA349849885 | COL3A1 | c.862G>C (p.Gly288Arg) | |
2 | g.188991496G= | CA1315396610 | COL3A1 | c.862G= (p.Gly288=) | |
2 | g.188991496G>T | CA349849884 | COL3A1 | c.862G>T (p.Gly288Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991497G>A | CA349849886 | COL3A1 | c.863G>A (p.Gly288Asp) | |
2 | g.188991497G>C | CA349849887 | COL3A1 | c.863G>C (p.Gly288Ala) | |
2 | g.188991497G>T | CA349849888 | COL3A1 | c.863G>T (p.Gly288Val) | |
2 | g.188991498T>A | CA430309162 | COL3A1 | c.864T>A (p.Gly288=) | |
2 | g.188991498T>C | CA430309163 | COL3A1 | c.864T>C (p.Gly288=) | |
2 | g.188991498T>G | CA430309161 | COL3A1 | c.864T>G (p.Gly288=) | |
2 | g.188991499C>A | CA349849889 | COL3A1 | c.865C>A (p.Leu289Ile) | COSMIC |
2 | g.188991499C>G | CA349849890 | COL3A1 | c.865C>G (p.Leu289Val) | |
2 | g.188991499C>T | CA349849891 | COL3A1 | c.865C>T (p.Leu289Phe) | |
2 | g.188991500T>A | CA349849892 | COL3A1 | c.866T>A (p.Leu289His) | |
2 | g.188991500T>C | CA349849893 | COL3A1 | c.866T>C (p.Leu289Pro) | |
2 | g.188991500T>G | CA349849894 | COL3A1 | c.866T>G (p.Leu289Arg) | |
2 | g.188991501T>A | CA430309164 | COL3A1 | c.867T>A (p.Leu289=) | |
2 | g.188991501T>C | CA430309166 | COL3A1 | c.867T>C (p.Leu289=) | |
2 | g.188991501T>G | CA430309165 | COL3A1 | c.867T>G (p.Leu289=) | |
2 | g.188991502C>A | CA349849895 | COL3A1 | c.868C>A (p.Pro290Thr) | |
2 | g.188991502C= | CA1315396614 | COL3A1 | c.868C= (p.Pro290=) | |
2 | g.188991502C>G | CA349849896 | COL3A1 | c.868C>G (p.Pro290Ala) | |
2 | g.188991502C>T | CA349849897 | COL3A1 | c.868C>T (p.Pro290Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991503C>A | CA349849900 | COL3A1 | c.869C>A (p.Pro290Gln) | gnomAD v4 |
2 | g.188991503C= | CA1315396615 | COL3A1 | c.869C= (p.Pro290=) | |
2 | g.188991503C>G | CA349849898 | COL3A1 | c.869C>G (p.Pro290Arg) | |
2 | g.188991503C>T | CA349849899 | COL3A1 | c.869C>T (p.Pro290Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.188991504A>C | CA430309167 | COL3A1 | c.870A>C (p.Pro290=) | |
2 | g.188991504A>G | CA430309168 | COL3A1 | c.870A>G (p.Pro290=) | gnomAD v4 |
2 | g.188991504A>T | CA430309169 | COL3A1 | c.870A>T (p.Pro290=) | |
2 | g.188991505G>A | CA349849901 | COL3A1 | c.871G>A (p.Gly291Ser) | |
2 | g.188991505G>C | CA349849902 | COL3A1 | c.871G>C (p.Gly291Arg) | |
2 | g.188991505G>T | CA349849903 | COL3A1 | c.871G>T (p.Gly291Cys) | |
2 | g.188991506G>A | CA349849904 | COL3A1 | c.872G>A (p.Gly291Asp) | |
2 | g.188991506G>C | CA349849905 | COL3A1 | c.872G>C (p.Gly291Ala) | |
2 | g.188991506G>T | CA349849906 | COL3A1 | c.872G>T (p.Gly291Val) | |
2 | g.188991507C>A | CA430309170 | COL3A1 | c.873C>A (p.Gly291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.188991507C= | CA1315396621 | COL3A1 | c.873C= (p.Gly291=) | |
2 | g.188991507C>G | CA077015 | COL3A1 | c.873C>G (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991507C>T | CA077017 | COL3A1 | c.873C>T (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>A | CA077019 | COL3A1 | c.874G>A (p.Glu292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>C | CA349849907 | COL3A1 | c.874G>C (p.Glu292Gln) | dbSNP gnomAD v2 |
2 | g.188991508G= | CA1315396629 | COL3A1 | c.874G= (p.Glu292=) | |
2 | g.188991508G>T | CA349849908 | COL3A1 | c.874G>T (p.Glu292Ter) | |
2 | g.188991509A>C | CA349849911 | COL3A1 | c.875A>C (p.Glu292Ala) | |
2 | g.188991509A>G | CA349849910 | COL3A1 | c.875A>G (p.Glu292Gly) | |
2 | g.188991509A>T | CA349849909 | COL3A1 | c.875A>T (p.Glu292Val) | |
2 | g.188991510A= | CA1315396630 | COL3A1 | c.876A= (p.Glu292=) | |
2 | g.188991510A>C | CA349849912 | COL3A1 | c.876A>C (p.Glu292Asp) | |
2 | g.188991510A>G | CA430309171 | COL3A1 | c.876A>G (p.Glu292=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991510A>T | CA349849913 | COL3A1 | c.876A>T (p.Glu292Asp) | |
2 | g.188991511A= | CA1315396631 | COL3A1 | c.877A= (p.Asn293=) | |
2 | g.188991511A>C | CA349849914 | COL3A1 | c.877A>C (p.Asn293His) | |
2 | g.188991511A>G | CA349849915 | COL3A1 | c.877A>G (p.Asn293Asp) | ClinVar dbSNP |
2 | g.188991511A>T | CA349849916 | COL3A1 | c.877A>T (p.Asn293Tyr) | |
2 | g.188991512A= | CA1315396633 | COL3A1 | c.878A= (p.Asn293=) | |
2 | g.188991512A>C | CA349849917 | COL3A1 | c.878A>C (p.Asn293Thr) | |
2 | g.188991512A>G | CA349849918 | COL3A1 | c.878A>G (p.Asn293Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991512A>T | CA349849919 | COL3A1 | c.878A>T (p.Asn293Ile) | |
2 | g.188991513T>A | CA349849920 | COL3A1 | c.879T>A (p.Asn293Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.188991513T>C | CA430309172 | COL3A1 | c.879T>C (p.Asn293=) | |
2 | g.188991513T>G | CA349849921 | COL3A1 | c.879T>G (p.Asn293Lys) | |
2 | g.188991513T= | CA1315396635 | COL3A1 | c.879T= (p.Asn293=) | |
2 | g.188991514G>A | CA349849922 | COL3A1 | c.880G>A (p.Gly294Arg) | ClinVar dbSNP |
2 | g.188991514G>C | CA349849923 | COL3A1 | c.880G>C (p.Gly294Arg) | |
2 | g.188991514G>T | CA349849924 | COL3A1 | c.880G>T (p.Gly294Ter) | |
2 | g.188991515G>A | CA349849927 | COL3A1 | c.881G>A (p.Gly294Glu) | gnomAD v4 COSMIC |
2 | g.188991515G>C | CA349849925 | COL3A1 | c.881G>C (p.Gly294Ala) | |
2 | g.188991515G>T | CA349849926 | COL3A1 | c.881G>T (p.Gly294Val) | |
2 | g.188991516A>C | CA430309173 | COL3A1 | c.882A>C (p.Gly294=) | |
2 | g.188991516A>G | CA430309174 | COL3A1 | c.882A>G (p.Gly294=) | |
2 | g.188991516A>T | CA430309175 | COL3A1 | c.882A>T (p.Gly294=) | |
2 | g.188991517G>A | CA349849928 | COL3A1 | c.883G>A (p.Ala295Thr) | |
2 | g.188991517G>C | CA349849929 | COL3A1 | c.883G>C (p.Ala295Pro) | dbSNP gnomAD v4 |
2 | g.188991517G= | CA1315396636 | COL3A1 | c.883G= (p.Ala295=) | |
2 | g.188991517G>T | CA349849930 | COL3A1 | c.883G>T (p.Ala295Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991518C>A | CA349849931 | COL3A1 | c.884C>A (p.Ala295Asp) | |
2 | g.188991518C= | CA1315396638 | COL3A1 | c.884C= (p.Ala295=) | |
2 | g.188991518C>G | CA349849932 | COL3A1 | c.884C>G (p.Ala295Gly) | |
2 | g.188991518C>T | CA62592729 | COL3A1 | c.884C>T (p.Ala295Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188991519T>A | CA430309176 | COL3A1 | c.885T>A (p.Ala295=) | |
2 | g.188991519T>C | CA430309177 | COL3A1 | c.885T>C (p.Ala295=) | ClinVar dbSNP |
2 | g.188991519T>G | CA430309178 | COL3A1 | c.885T>G (p.Ala295=) | |
2 | g.188991519T= | CA1315396640 | COL3A1 | c.885T= (p.Ala295=) | |
2 | g.188991520C>A | CA349849933 | COL3A1 | c.886C>A (p.Pro296Thr) | |
2 | g.188991520C>G | CA349849934 | COL3A1 | c.886C>G (p.Pro296Ala) | |
2 | g.188991520C>T | CA349849935 | COL3A1 | c.886C>T (p.Pro296Ser) | gnomAD v4 |
2 | g.188991521C>A | CA349849936 | COL3A1 | c.887C>A (p.Pro296His) | |
2 | g.188991521C>G | CA349849937 | COL3A1 | c.887C>G (p.Pro296Arg) | |
2 | g.188991521C>T | CA349849938 | COL3A1 | c.887C>T (p.Pro296Leu) | |
2 | g.188991522T>A | CA430309180 | COL3A1 | c.888T>A (p.Pro296=) | |
2 | g.188991522T>C | CA430309181 | COL3A1 | c.888T>C (p.Pro296=) | |
2 | g.188991522T>G | CA430309179 | COL3A1 | c.888T>G (p.Pro296=) | ClinVar |
2 | g.188991523G>A | CA349849940 | COL3A1 | c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
2 | g.188991523G>C | CA349849941 | COL3A1 | c.889G>C (p.Gly297Arg) | |
2 | g.188991523G= | CA1315396643 | COL3A1 | c.889G= (p.Gly297=) | |
2 | g.188991523G>T | CA349849939 | COL3A1 | c.889G>T (p.Gly297Ter) | |
2 | g.188991524G>A | CA349849943 | COL3A1 | c.890G>A (p.Gly297Glu) | |
2 | g.188991524G>C | CA349849942 | COL3A1 | c.890G>C (p.Gly297Ala) | gnomAD v4 |
2 | g.188991524G>T | CA349849944 | COL3A1 | c.890G>T (p.Gly297Val) | |
2 | g.188991525A= | CA1315396645 | COL3A1 | c.891A= (p.Gly297=) | |
2 | g.188991525A>C | CA077025 | COL3A1 | c.891A>C (p.Gly297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991525A>G | CA430309183 | COL3A1 | c.891A>G (p.Gly297=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991525A>T | CA430309182 | COL3A1 | c.891A>T (p.Gly297=) | |
2 | g.188991526C>A | CA349849945 | COL3A1 | c.892C>A (p.Pro298Thr) | dbSNP |
2 | g.188991526C= | CA1315396647 | COL3A1 | c.892C= (p.Pro298=) | |
2 | g.188991526C>G | CA349849946 | COL3A1 | c.892C>G (p.Pro298Ala) | |
2 | g.188991526C>T | CA349849947 | COL3A1 | c.892C>T (p.Pro298Ser) | gnomAD v4 COSMIC |
2 | g.188991527C>A | CA349849948 | COL3A1 | c.893C>A (p.Pro298His) | |
2 | g.188991527C>G | CA349849949 | COL3A1 | c.893C>G (p.Pro298Arg) | |
2 | g.188991527C>T | CA349849950 | COL3A1 | c.893C>T (p.Pro298Leu) | |
2 | g.188991528C>A | CA430309184 | COL3A1 | c.894C>A (p.Pro298=) | |
2 | g.188991528C>G | CA430309186 | COL3A1 | c.894C>G (p.Pro298=) | |
2 | g.188991528C>T | CA430309185 | COL3A1 | c.894C>T (p.Pro298=) | gnomAD v4 |
2 | g.188991528_188991529delinsAT | CA645527367 | COL3A1 | c.894_895delinsAT (p.Met299Leu) | COSMIC COSMIC |
2 | g.188991529A= | CA1315396648 | COL3A1 | c.895A= (p.Met299=) | |
2 | g.188991529A>C | CA349849951 | COL3A1 | c.895A>C (p.Met299Leu) | |
2 | g.188991529A>G | CA349849952 | COL3A1 | c.895A>G (p.Met299Val) | ClinVar gnomAD v4 COSMIC |
2 | g.188991529A>T | CA349849953 | COL3A1 | c.895A>T (p.Met299Leu) | dbSNP gnomAD v4 |
2 | g.188991530T>A | CA349849954 | COL3A1 | c.896T>A (p.Met299Lys) | |
2 | g.188991530T>C | CA349849955 | COL3A1 | c.896T>C (p.Met299Thr) | gnomAD v4 |
2 | g.188991530T>G | CA349849956 | COL3A1 | c.896T>G (p.Met299Arg) | |
2 | g.188991531G>A | CA349849957 | COL3A1 | c.897G>A (p.Met299Ile) | |
2 | g.188991531G>C | CA349849959 | COL3A1 | c.897G>C (p.Met299Ile) | |
2 | g.188991531G>T | CA349849958 | COL3A1 | c.897G>T (p.Met299Ile) | |
2 | g.188991533_188991669del | CA2753572047 | COL3A1 | c.897+2_898del |