| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45987508_45988380del | CA2580098894 | COL6A1 | c.748_805-704del | ClinVar |
| 21 | g.45987587_45987639del | CA2695230382 | COL6A1 | c.760-23_789del | |
| 21 | g.45987632_45987639dup | CA2654957034 | COL6A1 | c.782_789dup (p.Asp264SerfsTer?) | gnomAD v4 |
| 21 | g.45987632_45987639del | CA10605422 | COL6A1 | c.782_789del (p.Leu261ArgfsTer5) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45987632T>A | CA410520783 | COL6A1 | c.782T>A (p.Leu261His) n.434T>A | |
| 21 | g.45987632T>C | CA410520786 | COL6A1 | c.782T>C (p.Leu261Pro) n.434T>C | |
| 21 | g.45987632T>G | CA410520793 | COL6A1 | c.782T>G (p.Leu261Arg) n.434T>G | |
| 21 | g.45987633C>A | CA321960124 | COL6A1 | c.783C>A (p.Leu261=) n.435C>A | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987633C= | CA2392432149 | COL6A1 | c.783C= (p.Leu261=) n.435C= | |
| 21 | g.45987633C>G | CA512711179 | COL6A1 | c.783C>G (p.Leu261=) n.435C>G | |
| 21 | g.45987633C>T | CA512711177 | COL6A1 | c.783C>T (p.Leu261=) n.435C>T | gnomAD v4 |
| 21 | g.45987634C>A | CA512711183 | COL6A1 | c.784C>A (p.Arg262=) | |
| 21 | g.45987634C= | CA2392432150 | COL6A1 | c.784C= (p.Arg262=) | |
| 21 | g.45987634C>G | CA410520798 | COL6A1 | c.784C>G (p.Arg262Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987634C>T | CA10069750 | COL6A1 | c.784C>T (p.Arg262Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45987635G>A | CA10069751 | COL6A1 | c.785G>A (p.Arg262Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45987635G>C | CA410520805 | COL6A1 | c.785G>C (p.Arg262Pro) | |
| 21 | g.45987635G= | CA2392432151 | COL6A1 | c.785G= (p.Arg262=) | |
| 21 | g.45987635G>T | CA410520802 | COL6A1 | c.785G>T (p.Arg262Leu) | gnomAD v4 |
| 21 | g.45987638del | CA2654957035 | COL6A1 | c.788del (p.Gly263AlafsTer?) | dbSNP gnomAD v4 |
| 21 | g.45987636G>A | CA512711194 | COL6A1 | c.786G>A (p.Arg262=) | gnomAD v4 |
| 21 | g.45987636G>C | CA512711195 | COL6A1 | c.786G>C (p.Arg262=) | |
| 21 | g.45987636G>T | CA512711198 | COL6A1 | c.786G>T (p.Arg262=) | |
| 21 | g.45987637G>A | CA410520815 | COL6A1 | c.787G>A (p.Gly263Ser) | |
| 21 | g.45987637G>C | CA410520818 | COL6A1 | c.787G>C (p.Gly263Arg) | |
| 21 | g.45987637G= | CA2392432152 | COL6A1 | c.787G= (p.Gly263=) | |
| 21 | g.45987637G>T | CA410520822 | COL6A1 | c.787G>T (p.Gly263Cys) | ClinVar dbSNP |
| 21 | g.45987638G>A | CA10605416 | COL6A1 | c.788G>A (p.Gly263Asp) | ClinVar dbSNP |
| 21 | g.45987638G>C | CA410520835 | COL6A1 | c.788G>C (p.Gly263Ala) | |
| 21 | g.45987638G= | CA2392432153 | COL6A1 | c.788G= (p.Gly263=) | |
| 21 | g.45987638G>T | CA410520838 | COL6A1 | c.788G>T (p.Gly263Val) | ClinVar dbSNP |
| 21 | g.45987639C>A | CA512711210 | COL6A1 | c.789C>A (p.Gly263=) | gnomAD v4 |
| 21 | g.45987639C= | CA2392432154 | COL6A1 | c.789C= (p.Gly263=) | |
| 21 | g.45987639C>G | CA512711212 | COL6A1 | c.789C>G (p.Gly263=) | |
| 21 | g.45987639C>T | CA10069752 | COL6A1 | c.789C>T (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45987640G>A | CA10069753 | COL6A1 | c.790G>A (p.Asp264Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45987640G>C | CA410520846 | COL6A1 | c.790G>C (p.Asp264His) | |
| 21 | g.45987640G= | CA2392432155 | COL6A1 | c.790G= (p.Asp264=) | |
| 21 | g.45987640G>T | CA410520850 | COL6A1 | c.790G>T (p.Asp264Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987641A>C | CA410520855 | COL6A1 | c.791A>C (p.Asp264Ala) | |
| 21 | g.45987641A>G | CA410520858 | COL6A1 | c.791A>G (p.Asp264Gly) | |
| 21 | g.45987641A>T | CA410520860 | COL6A1 | c.791A>T (p.Asp264Val) | |
| 21 | g.45987642C>A | CA410520862 | COL6A1 | c.792C>A (p.Asp264Glu) | |
| 21 | g.45987642C>G | CA410520863 | COL6A1 | c.792C>G (p.Asp264Glu) | |
| 21 | g.45987642C>T | CA512711228 | COL6A1 | c.792C>T (p.Asp264=) | |
| 21 | g.45987645del | CA2654957036 | COL6A1 | c.795del (p.Gly266AlafsTer?) | gnomAD v4 |
| 21 | g.45987643C>A | CA410520867 | COL6A1 | c.793C>A (p.Pro265Thr) | gnomAD v4 |
| 21 | g.45987643C>G | CA410520870 | COL6A1 | c.793C>G (p.Pro265Ala) | |
| 21 | g.45987643C>T | CA410520872 | COL6A1 | c.793C>T (p.Pro265Ser) | gnomAD v4 |
| 21 | g.45987643_45987663del | CA2695230383 | COL6A1 | c.793_804+9del | |
| 21 | g.45987644C>A | CA410520876 | COL6A1 | c.794C>A (p.Pro265His) | |
| 21 | g.45987644C= | CA2392432156 | COL6A1 | c.794C= (p.Pro265=) | |
| 21 | g.45987644C>G | CA410520878 | COL6A1 | c.794C>G (p.Pro265Arg) | |
| 21 | g.45987644C>T | CA10069754 | COL6A1 | c.794C>T (p.Pro265Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987645C>A | CA512711241 | COL6A1 | c.795C>A (p.Pro265=) | |
| 21 | g.45987645C= | CA2392432157 | COL6A1 | c.795C= (p.Pro265=) | |
| 21 | g.45987645C>G | CA512711244 | COL6A1 | c.795C>G (p.Pro265=) | |
| 21 | g.45987645C>T | CA10069755 | COL6A1 | c.795C>T (p.Pro265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987646G>A | CA410520888 | COL6A1 | c.796G>A (p.Gly266Ser) | COSMIC |
| 21 | g.45987646G>C | CA410520895 | COL6A1 | c.796G>C (p.Gly266Arg) | |
| 21 | g.45987646G>T | CA410520897 | COL6A1 | c.796G>T (p.Gly266Cys) | |
| 21 | g.45987648_45987662del | CA2695230384 | COL6A1 | c.798_804+8del | |
| 21 | g.45987647G>A | CA410520900 | COL6A1 | c.797G>A (p.Gly266Asp) | |
| 21 | g.45987647G>C | CA410520901 | COL6A1 | c.797G>C (p.Gly266Ala) | |
| 21 | g.45987647G>T | CA410520902 | COL6A1 | c.797G>T (p.Gly266Val) | gnomAD v4 |
| 21 | g.45987648C>A | CA512711259 | COL6A1 | c.798C>A (p.Gly266=) | gnomAD v4 |
| 21 | g.45987648C>G | CA512711260 | COL6A1 | c.798C>G (p.Gly266=) | |
| 21 | g.45987648C>T | CA512711261 | COL6A1 | c.798C>T (p.Gly266=) | |
| 21 | g.45987649T>A | CA410520909 | COL6A1 | c.799T>A (p.Phe267Ile) | |
| 21 | g.45987649T>C | CA410520906 | COL6A1 | c.799T>C (p.Phe267Leu) | |
| 21 | g.45987649T>G | CA410520904 | COL6A1 | c.799T>G (p.Phe267Val) | |
| 21 | g.45987650T>A | CA410520912 | COL6A1 | c.800T>A (p.Phe267Tyr) | |
| 21 | g.45987650T>C | CA410520914 | COL6A1 | c.800T>C (p.Phe267Ser) | |
| 21 | g.45987650T>G | CA410520920 | COL6A1 | c.800T>G (p.Phe267Cys) | |
| 21 | g.45987651T>A | CA410520924 | COL6A1 | c.801T>A (p.Phe267Leu) | |
| 21 | g.45987651T>C | CA512711267 | COL6A1 | c.801T>C (p.Phe267=) | |
| 21 | g.45987651T>G | CA410520929 | COL6A1 | c.801T>G (p.Phe267Leu) | |
| 21 | g.45987652G>A | CA410520934 | COL6A1 | c.802G>A (p.Glu268Lys) | dbSNP |
| 21 | g.45987652G>C | CA410520936 | COL6A1 | c.802G>C (p.Glu268Gln) | |
| 21 | g.45987652G= | CA2392432158 | COL6A1 | c.802G= (p.Glu268=) | |
| 21 | g.45987652G>T | CA410520937 | COL6A1 | c.802G>T (p.Glu268Ter) | gnomAD v4 |
| 21 | g.45987653A= | CA2392432159 | COL6A1 | c.803A= (p.Glu268=) | |
| 21 | g.45987653A>C | CA410520941 | COL6A1 | c.803A>C (p.Glu268Ala) | |
| 21 | g.45987653A>G | CA10069756 | COL6A1 | c.803A>G (p.Glu268Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987653A>T | CA410520946 | COL6A1 | c.803A>T (p.Glu268Val) | |
| 21 | g.45987654G>A | CA10069757 | COL6A1 | c.804G>A (p.Glu268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987654G>C | CA410520949 | COL6A1 | c.804G>C (p.Glu268Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987654G= | CA2392432160 | COL6A1 | c.804G= (p.Glu268=) | |
| 21 | g.45987654G>T | CA410520950 | COL6A1 | c.804G>T (p.Glu268Asp) | |
| 21 | g.45987655G>A | CA410520958 | COL6A1 | c.804+1G>A (n.804+1G>A) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45987655G>C | CA410520960 | COL6A1 | c.804+1G>C (n.804+1G>C) | |
| 21 | g.45987655G= | CA2392432161 | COL6A1 | c.804+1G= (n.804+1G=) | |
| 21 | g.45987655G>T | CA410520955 | COL6A1 | c.804+1G>T (n.804+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987656T>A | CA410520963 | COL6A1 | c.804+2T>A (n.804+2T>A) | |
| 21 | g.45987656T>C | CA410520967 | COL6A1 | c.804+2T>C (n.804+2T>C) | |
| 21 | g.45987656T>G | CA410520969 | COL6A1 | c.804+2T>G (n.804+2T>G) | |
| 21 | g.45987657G>T | CA2541980944 | COL6A1 | c.804+3G>T (n.804+3G>T) | gnomAD v4 |
| 21 | g.45987659G>A | CA2392432163 | COL6A1 | c.804+5G>A (n.804+5G>A) | dbSNP |
| 21 | g.45987659G= | CA2392432162 | COL6A1 | c.804+5G= (n.804+5G=) | |
| 21 | g.45987659G>T | CA2654957037 | COL6A1 | c.804+5G>T (n.804+5G>T) | gnomAD v4 |
| 21 | g.45987661G>A | CA2737643202 | COL6A1 | c.804+7G>A (n.804+7G>A) | dbSNP |
| 21 | g.45987661G>T | CA2654957038 | COL6A1 | c.804+7G>T (n.804+7G>T) | gnomAD v4 |
| 21 | g.45987662G>A | CA2392432165 | COL6A1 | c.804+8G>A (n.804+8G>A) | ClinVar dbSNP |
| 21 | g.45987662G>C | CA2654957039 | COL6A1 | c.804+8G>C (n.804+8G>C) | gnomAD v4 |
| 21 | g.45987662G= | CA2392432164 | COL6A1 | c.804+8G= (n.804+8G=) | |
| 21 | g.45987662G>T | CA2654957040 | COL6A1 | c.804+8G>T (n.804+8G>T) | gnomAD v4 |
| 21 | g.45987663T>C | CA2573157613 | COL6A1 | c.804+9T>C (n.804+9T>C) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45987666C>G | CA2654957041 | COL6A1 | c.804+12C>G (n.804+12C>G) | gnomAD v4 |
| 21 | g.45987666C>T | CA2577628410 | COL6A1 | c.804+12C>T (n.804+12C>T) | |
| 21 | g.45987667T>A | CA2654957042 | COL6A1 | c.804+13T>A (n.804+13T>A) | gnomAD v4 |
| 21 | g.45987667T>C | CA749827886 | COL6A1 | c.804+13T>C (n.804+13T>C) | dbSNP gnomAD v4 |
| 21 | g.45987667T= | CA2392432166 | COL6A1 | c.804+13T= (n.804+13T=) | |
| 21 | g.45987668C= | CA2392432167 | COL6A1 | c.804+14C= (n.804+14C=) | |
| 21 | g.45987668C>G | CA10069758 | COL6A1 | c.804+14C>G (n.804+14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987668C>T | CA2392432168 | COL6A1 | c.804+14C>T (n.804+14C>T) | ClinVar dbSNP gnomAD v4 |
| 21 | g.45987669C>A | CA2607799544 | COL6A1 | c.804+15C>A (n.804+15C>A) | gnomAD v4 |
| 21 | g.45987669C>T | CA2577628411 | COL6A1 | c.804+15C>T (n.804+15C>T) | |
| 21 | g.45987670T>C | CA2654957043 | COL6A1 | c.804+16T>C (n.804+16T>C) | gnomAD v4 |
| 21 | g.45987671del | CA2654957044 | COL6A1 | c.804+17del (n.804+17del) | gnomAD v4 |
| 21 | g.45987671G>A | CA2654957045 | COL6A1 | c.804+17G>A (n.804+17G>A) | gnomAD v4 |
| 21 | g.45987671G>T | CA2654957046 | COL6A1 | c.804+17G>T (n.804+17G>T) | gnomAD v4 |
| 21 | g.45987672C>A | CA2654957047 | COL6A1 | c.804+18C>A (n.804+18C>A) | gnomAD v4 |
| 21 | g.45987674C>A | CA2525882441 | COL6A1 | c.804+20C>A (n.804+20C>A) | gnomAD v4 |
| 21 | g.45987674C>T | CA2577628412 | COL6A1 | c.804+20C>T (n.804+20C>T) | ClinVar |
| 21 | g.45987675C>A | CA749827887 | COL6A1 | c.804+21C>A (n.804+21C>A) | dbSNP |
| 21 | g.45987675C= | CA2392432169 | COL6A1 | c.804+21C= (n.804+21C=) | |
| 21 | g.45987675C>G | CA2522956709 | COL6A1 | c.804+21C>G (n.804+21C>G) | gnomAD v4 |
| 21 | g.45987675C>T | CA2577628413 | COL6A1 | c.804+21C>T (n.804+21C>T) | gnomAD v4 |
| 21 | g.45987676T>G | CA2654957048 | COL6A1 | c.804+22T>G (n.804+22T>G) | gnomAD v4 |
| 21 | g.45987677C>A | CA2654957049 | COL6A1 | c.804+23C>A (n.804+23C>A) | gnomAD v4 |
| 21 | g.45987677C>T | CA2577628414 | COL6A1 | c.804+23C>T (n.804+23C>T) | gnomAD v4 |
| 21 | g.45987678C= | CA2392432170 | COL6A1 | c.804+24C= (n.804+24C=) | |
| 21 | g.45987678C>T | CA2392432171 | COL6A1 | c.804+24C>T (n.804+24C>T) | dbSNP gnomAD v4 |
| 21 | g.45987680A= | CA2392432172 | COL6A1 | c.804+26A= (n.804+26A=) | |
| 21 | g.45987680A>G | CA10069759 | COL6A1 | c.804+26A>G (n.804+26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987680_45987685delinsATGTGT | CA2392432173 | COL6A1 | c.804+26_804+31delinsATGTGT (n.804+26_804+31delinsATGTGT) | |
| 21 | g.45987685_45987689del | CA749827889 | COL6A1 | c.804+31_804+35del (n.804+31_804+35del) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987682G>C | CA2654957051 | COL6A1 | c.804+28G>C (n.804+28G>C) | gnomAD v4 |
| 21 | g.45987682G>T | CA2654957050 | COL6A1 | c.804+28G>T (n.804+28G>T) | gnomAD v4 |
| 21 | g.45987682_45987685delinsGTGT | CA2392432174 | COL6A1 | c.804+28_804+31delinsGTGT (n.804+28_804+31delinsGTGT) | |
| 21 | g.45987683T>C | CA749827891 | COL6A1 | c.804+29T>C (n.804+29T>C) | dbSNP gnomAD v4 |
| 21 | g.45987683T= | CA2392432175 | COL6A1 | c.804+29T= (n.804+29T=) | |
| 21 | g.45987686_45987688del | CA10069760 | COL6A1 | c.804+32_804+34del (n.804+32_804+34del) | dbSNP ExAC |
| 21 | g.45987684G>A | CA638177868 | COL6A1 | c.804+30G>A (n.804+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987684G= | CA2392432176 | COL6A1 | c.804+30G= (n.804+30G=) | |
| 21 | g.45987684G>T | CA913084386 | COL6A1 | c.804+30G>T (n.804+30G>T) | gnomAD v4 |
| 21 | g.45987687G>C | CA10069761 | COL6A1 | c.804+33G>C (n.804+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987687G= | CA2392432177 | COL6A1 | c.804+33G= (n.804+33G=) | |
| 21 | g.45987687G>T | CA2654957053 | COL6A1 | c.804+33G>T (n.804+33G>T) | gnomAD v4 |
| 21 | g.45987688_45987690del | CA2654957052 | COL6A1 | c.804+34_804+36del (n.804+34_804+36del) | gnomAD v4 |
| 21 | g.45987689G>A | CA10069762 | COL6A1 | c.804+35G>A (n.804+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987689G= | CA2392432178 | COL6A1 | c.804+35G= (n.804+35G=) | |
| 21 | g.45987689G>T | CA2654957054 | COL6A1 | c.804+35G>T (n.804+35G>T) | gnomAD v4 |
| 21 | g.45987690G>A | CA10069763 | COL6A1 | c.804+36G>A (n.804+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987690G>C | CA2654957055 | COL6A1 | c.804+36G>C (n.804+36G>C) | gnomAD v4 |
| 21 | g.45987690G= | CA2392432179 | COL6A1 | c.804+36G= (n.804+36G=) | |
| 21 | g.45987690G>T | CA2654957056 | COL6A1 | c.804+36G>T (n.804+36G>T) | gnomAD v4 |
| 21 | g.45987691G>A | CA2654957058 | COL6A1 | c.804+37G>A (n.804+37G>A) | gnomAD v4 |
| 21 | g.45987691G>C | CA638177872 | COL6A1 | c.804+37G>C (n.804+37G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987691G= | CA2392432180 | COL6A1 | c.804+37G= (n.804+37G=) | |
| 21 | g.45987691G>T | CA2654957057 | COL6A1 | c.804+37G>T (n.804+37G>T) | gnomAD v4 |
| 21 | g.45987692G>A | CA2654957059 | COL6A1 | c.804+38G>A (n.804+38G>A) | gnomAD v4 |
| 21 | g.45987692G= | CA2392432181 | COL6A1 | c.804+38G= (n.804+38G=) | |
| 21 | g.45987692G>T | CA10069764 | COL6A1 | c.804+38G>T (n.804+38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987693C>A | CA638177873 | COL6A1 | c.804+39C>A (n.804+39C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987693C= | CA2392432183 | COL6A1 | c.804+39C= (n.804+39C=) | |
| 21 | g.45987693C>T | CA2654957060 | COL6A1 | c.804+39C>T (n.804+39C>T) | gnomAD v4 |
| 21 | g.45987693_45987695delinsCCT | CA2392432182 | COL6A1 | c.804+39_804+41delinsCCT (n.804+39_804+41delinsCCT) | |
| 21 | g.45987694C>A | CA2654957061 | COL6A1 | c.804+40C>A (n.804+40C>A) | gnomAD v4 |
| 21 | g.45987694C= | CA2392432184 | COL6A1 | c.804+40C= (n.804+40C=) | |
| 21 | g.45987694C>G | CA10069765 | COL6A1 | c.804+40C>G (n.804+40C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987694C>T | CA2654957062 | COL6A1 | c.804+40C>T (n.804+40C>T) | gnomAD v4 |
| 21 | g.45987694_45987695del | CA638177875 | COL6A1 | c.804+40_804+41del (n.804+40_804+41del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987696G>A | CA2654957063 | COL6A1 | c.804+42G>A (n.804+42G>A) | gnomAD v4 |
| 21 | g.45987696G>T | CA2654957064 | COL6A1 | c.804+42G>T (n.804+42G>T) | gnomAD v4 |
| 21 | g.45987697G>A | CA749827925 | COL6A1 | c.804+43G>A (n.804+43G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987697G= | CA2392432185 | COL6A1 | c.804+43G= (n.804+43G=) | |
| 21 | g.45987697G>T | CA2535428189 | COL6A1 | c.804+43G>T (n.804+43G>T) | gnomAD v4 |
| 21 | g.45987698G>A | CA10069766 | COL6A1 | c.804+44G>A (n.804+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987698G= | CA2392432186 | COL6A1 | c.804+44G= (n.804+44G=) | |
| 21 | g.45987698G>T | CA2572318239 | COL6A1 | c.804+44G>T (n.804+44G>T) | gnomAD v4 |
| 21 | g.45987700G>A | CA2654957066 | COL6A1 | c.804+46G>A (n.804+46G>A) | gnomAD v4 |
| 21 | g.45987700G>T | CA2654957065 | COL6A1 | c.804+46G>T (n.804+46G>T) | gnomAD v4 |
| 21 | g.45987700_45987701delinsGT | CA2392432187 | COL6A1 | c.804+46_804+47delinsGT (n.804+46_804+47delinsGT) | |
| 21 | g.45987701del | CA10069767 | COL6A1 | c.804+47del (n.804+47del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987701T>A | CA2654957068 | COL6A1 | c.804+47T>A (n.804+47T>A) | gnomAD v4 |
| 21 | g.45987701T>C | CA2654957067 | COL6A1 | c.804+47T>C (n.804+47T>C) | gnomAD v4 |
| 21 | g.45987702G>A | CA10069768 | COL6A1 | c.804+48G>A (n.804+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45987702G>C | CA749827931 | COL6A1 | c.804+48G>C (n.804+48G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987702G= | CA2392432188 | COL6A1 | c.804+48G= (n.804+48G=) | |
| 21 | g.45987702G>T | CA2654957070 | COL6A1 | c.804+48G>T (n.804+48G>T) | gnomAD v4 |
| 21 | g.45987706del | CA2654957069 | COL6A1 | c.804+52del (n.804+52del) | gnomAD v4 |
| 21 | g.45987703G>T | CA2654957071 | COL6A1 | c.804+49G>T (n.804+49G>T) | gnomAD v4 |
| 21 | g.45987704G>A | CA638177881 | COL6A1 | c.804+50G>A (n.804+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45987704G= | CA2392432189 | COL6A1 | c.804+50G= (n.804+50G=) | |
| 21 | g.45987704G>T | CA2654957072 | COL6A1 | c.804+50G>T (n.804+50G>T) | gnomAD v4 |
| 21 | g.45987705G= | CA2392432190 | COL6A1 | c.804+51G= (n.804+51G=) | |
| 21 | g.45987705G>T | CA10069769 | COL6A1 | c.804+51G>T (n.804+51G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987706G>A | CA10069770 | COL6A1 | c.804+52G>A (n.804+52G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987706G= | CA2392432191 | COL6A1 | c.804+52G= (n.804+52G=) | |
| 21 | g.45987706G>T | CA2654957073 | COL6A1 | c.804+52G>T (n.804+52G>T) | gnomAD v4 |
| 21 | g.45987707T>C | CA2654957074 | COL6A1 | c.804+53T>C (n.804+53T>C) | gnomAD v4 |
| 21 | g.45987708G>T | CA2654957075 | COL6A1 | c.804+54G>T (n.804+54G>T) | gnomAD v4 |
| 21 | g.45987709G>A | CA2654957076 | COL6A1 | c.804+55G>A (n.804+55G>A) | gnomAD v4 |
| 21 | g.45987709G>T | CA2654957077 | COL6A1 | c.804+55G>T (n.804+55G>T) | gnomAD v4 |
| 21 | g.45987710C>A | CA2577628415 | COL6A1 | c.804+56C>A (n.804+56C>A) | gnomAD v4 |
| 21 | g.45987710C= | CA2392432192 | COL6A1 | c.804+56C= (n.804+56C=) | |
| 21 | g.45987710C>T | CA2392432193 | COL6A1 | c.804+56C>T (n.804+56C>T) | dbSNP gnomAD v4 |
| 21 | g.45987711A>G | CA2654957078 | COL6A1 | c.804+57A>G (n.804+57A>G) | gnomAD v4 |
| 21 | g.45987712G>A | CA749827945 | COL6A1 | c.804+58G>A (n.804+58G>A) | dbSNP |
| 21 | g.45987712G>C | CA2654957079 | COL6A1 | c.804+58G>C (n.804+58G>C) | gnomAD v4 |
| 21 | g.45987712G= | CA2392432194 | COL6A1 | c.804+58G= (n.804+58G=) | |
| 21 | g.45987712G>T | CA2654957080 | COL6A1 | c.804+58G>T (n.804+58G>T) | gnomAD v4 |
| 21 | g.45987713G>A | CA2654957081 | COL6A1 | c.804+59G>A (n.804+59G>A) | gnomAD v4 |
| 21 | g.45987713G>C | CA2654957082 | COL6A1 | c.804+59G>C (n.804+59G>C) | gnomAD v4 |
| 21 | g.45987714A= | CA2392432195 | COL6A1 | c.804+60A= (n.804+60A=) | |
| 21 | g.45987714A>G | CA749827948 | COL6A1 | c.804+60A>G (n.804+60A>G) | dbSNP gnomAD v4 |
| 21 | g.45987715C>G | CA2654957083 | COL6A1 | c.804+61C>G (n.804+61C>G) | gnomAD v4 |
| 21 | g.45987716C>A | CA2577628416 | COL6A1 | c.804+62C>A (n.804+62C>A) | gnomAD v4 |
| 21 | g.45987716C>T | CA2654957084 | COL6A1 | c.804+62C>T (n.804+62C>T) | gnomAD v4 |
| 21 | g.45987718A>G | CA2654957085 | COL6A1 | c.804+64A>G (n.804+64A>G) | gnomAD v4 |
| 21 | g.45987720G>A | CA2577628417 | COL6A1 | c.804+66G>A (n.804+66G>A) | |
| 21 | g.45987720G>T | CA2654957086 | COL6A1 | c.804+66G>T (n.804+66G>T) | gnomAD v4 |
| 21 | g.45987721C>A | CA2577628418 | COL6A1 | c.804+67C>A (n.804+67C>A) | gnomAD v4 |
| 21 | g.45987721C>G | CA2654957089 | COL6A1 | c.804+67C>G (n.804+67C>G) | gnomAD v4 |
| 21 | g.45987721C>T | CA2654957088 | COL6A1 | c.804+67C>T (n.804+67C>T) | gnomAD v4 |
| 21 | g.45987722del | CA2654957087 | COL6A1 | c.804+68del (n.804+68del) | gnomAD v4 |
| 21 | g.45987722C>A | CA2654957091 | COL6A1 | c.804+68C>A (n.804+68C>A) | gnomAD v4 |
| 21 | g.45987722C>T | CA2654957090 | COL6A1 | c.804+68C>T (n.804+68C>T) | gnomAD v4 |
| 21 | g.45987724C>A | CA2654957092 | COL6A1 | c.804+70C>A (n.804+70C>A) | gnomAD v4 |
| 21 | g.45987725C>T | CA2654957093 | COL6A1 | c.804+71C>T (n.804+71C>T) | gnomAD v4 |
| 21 | g.45987726del | CA2654957094 | COL6A1 | c.804+72del (n.804+72del) | gnomAD v4 |
| 21 | g.45987727G>T | CA2654957095 | COL6A1 | c.804+73G>T (n.804+73G>T) | gnomAD v4 |
| 21 | g.45987728G>A | CA2654957096 | COL6A1 | c.804+74G>A (n.804+74G>A) | gnomAD v4 |
| 21 | g.45987728G>T | CA2654957097 | COL6A1 | c.804+74G>T (n.804+74G>T) | gnomAD v4 |
| 21 | g.45987729G>A | CA749827950 | COL6A1 | c.804+75G>A (n.804+75G>A) | dbSNP gnomAD v4 |
| 21 | g.45987729G= | CA2392432196 | COL6A1 | c.804+75G= (n.804+75G=) | |
| 21 | g.45987729G>T | CA2654957098 | COL6A1 | c.804+75G>T (n.804+75G>T) | gnomAD v4 |
| 21 | g.45987730C>A | CA2577628419 | COL6A1 | c.804+76C>A (n.804+76C>A) | gnomAD v4 |
| 21 | g.45987730C= | CA2392432197 | COL6A1 | c.804+76C= (n.804+76C=) | |
| 21 | g.45987730C>T | CA2392432198 | COL6A1 | c.804+76C>T (n.804+76C>T) | dbSNP gnomAD v4 |
| 21 | g.45987732C>A | CA2577628420 | COL6A1 | c.804+78C>A (n.804+78C>A) | dbSNP |
| 21 | g.45987732C>G | CA2654957099 | COL6A1 | c.804+78C>G (n.804+78C>G) | gnomAD v4 |
| 21 | g.45987732C>T | CA2654957100 | COL6A1 | c.804+78C>T (n.804+78C>T) | gnomAD v4 |