| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237334781G>A | CA351188731 | COL6A3 | c.1611-1233C>T c.8456C>T (p.Thr2819Ile) c.1201C>T c.9074C>T (p.Thr3025Ile) c.7250C>T (p.Thr2417Ile) c.7253C>T (p.Thr2418Ile) n.5516C>T n.6C>T c.8474C>T (p.Thr2825Ile) c.7853C>T (p.Thr2618Ile) c.8573C>T (p.Thr2858Ile) c.9071C>T (p.Thr3024Ile) c.6668C>T (p.Thr2223Ile) | |
| 2 | g.237334781G>C | CA351188725 | COL6A3 | c.1611-1233C>G c.8456C>G (p.Thr2819Ser) c.1201C>G c.9074C>G (p.Thr3025Ser) c.7250C>G (p.Thr2417Ser) c.7253C>G (p.Thr2418Ser) n.5516C>G n.6C>G c.8474C>G (p.Thr2825Ser) c.7853C>G (p.Thr2618Ser) c.8573C>G (p.Thr2858Ser) c.9071C>G (p.Thr3024Ser) c.6668C>G (p.Thr2223Ser) | |
| 2 | g.237334781G>T | CA351188723 | COL6A3 | c.1611-1233C>A c.8456C>A (p.Thr2819Asn) c.1201C>A c.9074C>A (p.Thr3025Asn) c.7250C>A (p.Thr2417Asn) c.7253C>A (p.Thr2418Asn) n.5516C>A n.6C>A c.8474C>A (p.Thr2825Asn) c.7853C>A (p.Thr2618Asn) c.8573C>A (p.Thr2858Asn) c.9071C>A (p.Thr3024Asn) c.6668C>A (p.Thr2223Asn) | |
| 2 | g.237334782T>A | CA351188733 | COL6A3 | c.1611-1234A>T c.8455A>T (p.Thr2819Ser) c.1200A>T c.9073A>T (p.Thr3025Ser) c.7249A>T (p.Thr2417Ser) c.7252A>T (p.Thr2418Ser) n.5515A>T n.5A>T c.8473A>T (p.Thr2825Ser) c.7852A>T (p.Thr2618Ser) c.8572A>T (p.Thr2858Ser) c.9070A>T (p.Thr3024Ser) c.6667A>T (p.Thr2223Ser) | |
| 2 | g.237334782T>C | CA351188735 | COL6A3 | c.1611-1234A>G c.8455A>G (p.Thr2819Ala) c.1200A>G c.9073A>G (p.Thr3025Ala) c.7249A>G (p.Thr2417Ala) c.7252A>G (p.Thr2418Ala) n.5515A>G n.5A>G c.8473A>G (p.Thr2825Ala) c.7852A>G (p.Thr2618Ala) c.8572A>G (p.Thr2858Ala) c.9070A>G (p.Thr3024Ala) c.6667A>G (p.Thr2223Ala) | |
| 2 | g.237334782T>G | CA351188737 | COL6A3 | c.1611-1234A>C c.8455A>C (p.Thr2819Pro) c.1200A>C c.9073A>C (p.Thr3025Pro) c.7249A>C (p.Thr2417Pro) c.7252A>C (p.Thr2418Pro) n.5515A>C n.5A>C c.8473A>C (p.Thr2825Pro) c.7852A>C (p.Thr2618Pro) c.8572A>C (p.Thr2858Pro) c.9070A>C (p.Thr3024Pro) c.6667A>C (p.Thr2223Pro) | |
| 2 | g.237334783G>A | CA431699143 | COL6A3 | c.1611-1235C>T c.8454C>T (p.Val2818=) c.1199C>T c.9072C>T (p.Val3024=) c.7248C>T (p.Val2416=) c.7251C>T (p.Val2417=) n.5514C>T n.4C>T c.8472C>T (p.Val2824=) c.7851C>T (p.Val2617=) c.8571C>T (p.Val2857=) c.9069C>T (p.Val3023=) c.6666C>T (p.Val2222=) | |
| 2 | g.237334783G>C | CA431699141 | COL6A3 | c.1611-1235C>G c.8454C>G (p.Val2818=) c.1199C>G c.9072C>G (p.Val3024=) c.7248C>G (p.Val2416=) c.7251C>G (p.Val2417=) n.5514C>G n.4C>G c.8472C>G (p.Val2824=) c.7851C>G (p.Val2617=) c.8571C>G (p.Val2857=) c.9069C>G (p.Val3023=) c.6666C>G (p.Val2222=) | |
| 2 | g.237334783G= | CA1337606454 | COL6A3 | c.1611-1235C= c.8454C= (p.Val2818=) c.1199C= c.9072C= (p.Val3024=) c.7248C= (p.Val2416=) c.7251C= (p.Val2417=) n.5514C= n.4C= c.8472C= (p.Val2824=) c.7851C= (p.Val2617=) c.8571C= (p.Val2857=) c.9069C= (p.Val3023=) c.6666C= (p.Val2222=) | |
| 2 | g.237334783G>T | CA431699142 | COL6A3 | c.1611-1235C>A c.8454C>A (p.Val2818=) c.1199C>A c.9072C>A (p.Val3024=) c.7248C>A (p.Val2416=) c.7251C>A (p.Val2417=) n.5514C>A n.4C>A c.8472C>A (p.Val2824=) c.7851C>A (p.Val2617=) c.8571C>A (p.Val2857=) c.9069C>A (p.Val3023=) c.6666C>A (p.Val2222=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237334784A>C | CA351188741 | COL6A3 | c.1611-1236T>G c.8453T>G (p.Val2818Gly) c.1198T>G c.9071T>G (p.Val3024Gly) c.7247T>G (p.Val2416Gly) c.7250T>G (p.Val2417Gly) n.5513T>G n.3T>G c.8471T>G (p.Val2824Gly) c.7850T>G (p.Val2617Gly) c.8570T>G (p.Val2857Gly) c.9068T>G (p.Val3023Gly) c.6665T>G (p.Val2222Gly) | |
| 2 | g.237334784A>G | CA351188744 | COL6A3 | c.1611-1236T>C c.8453T>C (p.Val2818Ala) c.1198T>C c.9071T>C (p.Val3024Ala) c.7247T>C (p.Val2416Ala) c.7250T>C (p.Val2417Ala) n.5513T>C n.3T>C c.8471T>C (p.Val2824Ala) c.7850T>C (p.Val2617Ala) c.8570T>C (p.Val2857Ala) c.9068T>C (p.Val3023Ala) c.6665T>C (p.Val2222Ala) | |
| 2 | g.237334784A>T | CA351188748 | COL6A3 | c.1611-1236T>A c.8453T>A (p.Val2818Asp) c.1198T>A c.9071T>A (p.Val3024Asp) c.7247T>A (p.Val2416Asp) c.7250T>A (p.Val2417Asp) n.5513T>A n.3T>A c.8471T>A (p.Val2824Asp) c.7850T>A (p.Val2617Asp) c.8570T>A (p.Val2857Asp) c.9068T>A (p.Val3023Asp) c.6665T>A (p.Val2222Asp) | |
| 2 | g.237334785C>A | CA351188761 | COL6A3 | c.1611-1237G>T c.8452G>T (p.Val2818Phe) c.1197G>T c.9070G>T (p.Val3024Phe) c.7246G>T (p.Val2416Phe) c.7249G>T (p.Val2417Phe) n.5512G>T n.2G>T c.8470G>T (p.Val2824Phe) c.7849G>T (p.Val2617Phe) c.8569G>T (p.Val2857Phe) c.9067G>T (p.Val3023Phe) c.6664G>T (p.Val2222Phe) | |
| 2 | g.237334785C= | CA1337606455 | COL6A3 | c.1611-1237G= c.8452G= (p.Val2818=) c.1197G= c.9070G= (p.Val3024=) c.7246G= (p.Val2416=) c.7249G= (p.Val2417=) n.5512G= n.2G= c.8470G= (p.Val2824=) c.7849G= (p.Val2617=) c.8569G= (p.Val2857=) c.9067G= (p.Val3023=) c.6664G= (p.Val2222=) | |
| 2 | g.237334785C>G | CA351188764 | COL6A3 | c.1611-1237G>C c.8452G>C (p.Val2818Leu) c.1197G>C c.9070G>C (p.Val3024Leu) c.7246G>C (p.Val2416Leu) c.7249G>C (p.Val2417Leu) n.5512G>C n.2G>C c.8470G>C (p.Val2824Leu) c.7849G>C (p.Val2617Leu) c.8569G>C (p.Val2857Leu) c.9067G>C (p.Val3023Leu) c.6664G>C (p.Val2222Leu) | |
| 2 | g.237334785C>T | CA2187366 | COL6A3 | c.1611-1237G>A c.8452G>A (p.Val2818Ile) c.1197G>A c.9070G>A (p.Val3024Ile) c.7246G>A (p.Val2416Ile) c.7249G>A (p.Val2417Ile) n.5512G>A n.2G>A c.8470G>A (p.Val2824Ile) c.7849G>A (p.Val2617Ile) c.8569G>A (p.Val2857Ile) c.9067G>A (p.Val3023Ile) c.6664G>A (p.Val2222Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237334786G>A | CA148089 | COL6A3 | c.1611-1238C>T c.8451C>T (p.Thr2817=) c.1196C>T c.9069C>T (p.Thr3023=) c.7245C>T (p.Thr2415=) c.7248C>T (p.Thr2416=) n.5511C>T n.1C>T c.8469C>T (p.Thr2823=) c.7848C>T (p.Thr2616=) c.8568C>T (p.Thr2856=) c.9066C>T (p.Thr3022=) c.6663C>T (p.Thr2221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237334786G>C | CA431699144 | COL6A3 | c.1611-1238C>G c.8451C>G (p.Thr2817=) c.1196C>G c.9069C>G (p.Thr3023=) c.7245C>G (p.Thr2415=) c.7248C>G (p.Thr2416=) n.5511C>G n.1C>G c.8469C>G (p.Thr2823=) c.7848C>G (p.Thr2616=) c.8568C>G (p.Thr2856=) c.9066C>G (p.Thr3022=) c.6663C>G (p.Thr2221=) | |
| 2 | g.237334786G= | CA1337606456 | COL6A3 | c.1611-1238C= c.8451C= (p.Thr2817=) c.1196C= c.9069C= (p.Thr3023=) c.7245C= (p.Thr2415=) c.7248C= (p.Thr2416=) n.5511C= n.1C= c.8469C= (p.Thr2823=) c.7848C= (p.Thr2616=) c.8568C= (p.Thr2856=) c.9066C= (p.Thr3022=) c.6663C= (p.Thr2221=) | |
| 2 | g.237334786G>T | CA431699145 | COL6A3 | c.1611-1238C>A c.8451C>A (p.Thr2817=) c.1196C>A c.9069C>A (p.Thr3023=) c.7245C>A (p.Thr2415=) c.7248C>A (p.Thr2416=) n.5511C>A n.1C>A c.8469C>A (p.Thr2823=) c.7848C>A (p.Thr2616=) c.8568C>A (p.Thr2856=) c.9066C>A (p.Thr3022=) c.6663C>A (p.Thr2221=) | COSMIC |
| 2 | g.237334787G>A | CA351188775 | COL6A3 | c.1611-1239C>T c.8450C>T (p.Thr2817Ile) c.1195C>T c.9068C>T (p.Thr3023Ile) c.7244C>T (p.Thr2415Ile) c.7247C>T (p.Thr2416Ile) n.5510C>T c.8468C>T (p.Thr2823Ile) c.7847C>T (p.Thr2616Ile) c.8567C>T (p.Thr2856Ile) c.9065C>T (p.Thr3022Ile) c.6662C>T (p.Thr2221Ile) | dbSNP COSMIC |
| 2 | g.237334787G>C | CA351188777 | COL6A3 | c.1611-1239C>G c.8450C>G (p.Thr2817Ser) c.1195C>G c.9068C>G (p.Thr3023Ser) c.7244C>G (p.Thr2415Ser) c.7247C>G (p.Thr2416Ser) n.5510C>G c.8468C>G (p.Thr2823Ser) c.7847C>G (p.Thr2616Ser) c.8567C>G (p.Thr2856Ser) c.9065C>G (p.Thr3022Ser) c.6662C>G (p.Thr2221Ser) | |
| 2 | g.237334787G= | CA1337606457 | COL6A3 | c.1611-1239C= c.8450C= (p.Thr2817=) c.1195C= c.9068C= (p.Thr3023=) c.7244C= (p.Thr2415=) c.7247C= (p.Thr2416=) n.5510C= c.8468C= (p.Thr2823=) c.7847C= (p.Thr2616=) c.8567C= (p.Thr2856=) c.9065C= (p.Thr3022=) c.6662C= (p.Thr2221=) | |
| 2 | g.237334787G>T | CA351188780 | COL6A3 | c.1611-1239C>A c.8450C>A (p.Thr2817Asn) c.1195C>A c.9068C>A (p.Thr3023Asn) c.7244C>A (p.Thr2415Asn) c.7247C>A (p.Thr2416Asn) n.5510C>A c.8468C>A (p.Thr2823Asn) c.7847C>A (p.Thr2616Asn) c.8567C>A (p.Thr2856Asn) c.9065C>A (p.Thr3022Asn) c.6662C>A (p.Thr2221Asn) | gnomAD v4 |
| 2 | g.237334788T>A | CA351188789 | COL6A3 | c.1611-1240A>T c.8449A>T (p.Thr2817Ser) c.1194A>T c.9067A>T (p.Thr3023Ser) c.7243A>T (p.Thr2415Ser) c.7246A>T (p.Thr2416Ser) n.5509A>T c.8467A>T (p.Thr2823Ser) c.7846A>T (p.Thr2616Ser) c.8566A>T (p.Thr2856Ser) c.9064A>T (p.Thr3022Ser) c.6661A>T (p.Thr2221Ser) | |
| 2 | g.237334788T>C | CA351188781 | COL6A3 | c.1611-1240A>G c.8449A>G (p.Thr2817Ala) c.1194A>G c.9067A>G (p.Thr3023Ala) c.7243A>G (p.Thr2415Ala) c.7246A>G (p.Thr2416Ala) n.5509A>G c.8467A>G (p.Thr2823Ala) c.7846A>G (p.Thr2616Ala) c.8566A>G (p.Thr2856Ala) c.9064A>G (p.Thr3022Ala) c.6661A>G (p.Thr2221Ala) | |
| 2 | g.237334788T>G | CA351188787 | COL6A3 | c.1611-1240A>C c.8449A>C (p.Thr2817Pro) c.1194A>C c.9067A>C (p.Thr3023Pro) c.7243A>C (p.Thr2415Pro) c.7246A>C (p.Thr2416Pro) n.5509A>C c.8467A>C (p.Thr2823Pro) c.7846A>C (p.Thr2616Pro) c.8566A>C (p.Thr2856Pro) c.9064A>C (p.Thr3022Pro) c.6661A>C (p.Thr2221Pro) | |
| 2 | g.237334789G>A | CA431699146 | COL6A3 | c.1611-1241C>T c.8448C>T (p.Leu2816=) c.1193C>T c.9066C>T (p.Leu3022=) c.7242C>T (p.Leu2414=) c.7245C>T (p.Leu2415=) n.5508C>T c.8466C>T (p.Leu2822=) c.7845C>T (p.Leu2615=) c.8565C>T (p.Leu2855=) c.9063C>T (p.Leu3021=) c.6660C>T (p.Leu2220=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237334789G>C | CA431699147 | COL6A3 | c.1611-1241C>G c.8448C>G (p.Leu2816=) c.1193C>G c.9066C>G (p.Leu3022=) c.7242C>G (p.Leu2414=) c.7245C>G (p.Leu2415=) n.5508C>G c.8466C>G (p.Leu2822=) c.7845C>G (p.Leu2615=) c.8565C>G (p.Leu2855=) c.9063C>G (p.Leu3021=) c.6660C>G (p.Leu2220=) | |
| 2 | g.237334789G= | CA1337606458 | COL6A3 | c.1611-1241C= c.8448C= (p.Leu2816=) c.1193C= c.9066C= (p.Leu3022=) c.7242C= (p.Leu2414=) c.7245C= (p.Leu2415=) n.5508C= c.8466C= (p.Leu2822=) c.7845C= (p.Leu2615=) c.8565C= (p.Leu2855=) c.9063C= (p.Leu3021=) c.6660C= (p.Leu2220=) | |
| 2 | g.237334789G>T | CA431699148 | COL6A3 | c.1611-1241C>A c.8448C>A (p.Leu2816=) c.1193C>A c.9066C>A (p.Leu3022=) c.7242C>A (p.Leu2414=) c.7245C>A (p.Leu2415=) n.5508C>A c.8466C>A (p.Leu2822=) c.7845C>A (p.Leu2615=) c.8565C>A (p.Leu2855=) c.9063C>A (p.Leu3021=) c.6660C>A (p.Leu2220=) | |
| 2 | g.237334790A>C | CA351188793 | COL6A3 | c.1611-1242T>G c.8447T>G (p.Leu2816Arg) c.1192T>G c.9065T>G (p.Leu3022Arg) c.7241T>G (p.Leu2414Arg) c.7244T>G (p.Leu2415Arg) n.5507T>G c.8465T>G (p.Leu2822Arg) c.7844T>G (p.Leu2615Arg) c.8564T>G (p.Leu2855Arg) c.9062T>G (p.Leu3021Arg) c.6659T>G (p.Leu2220Arg) | |
| 2 | g.237334790A>G | CA351188796 | COL6A3 | c.1611-1242T>C c.8447T>C (p.Leu2816Pro) c.1192T>C c.9065T>C (p.Leu3022Pro) c.7241T>C (p.Leu2414Pro) c.7244T>C (p.Leu2415Pro) n.5507T>C c.8465T>C (p.Leu2822Pro) c.7844T>C (p.Leu2615Pro) c.8564T>C (p.Leu2855Pro) c.9062T>C (p.Leu3021Pro) c.6659T>C (p.Leu2220Pro) | |
| 2 | g.237334790A>T | CA351188798 | COL6A3 | c.1611-1242T>A c.8447T>A (p.Leu2816His) c.1192T>A c.9065T>A (p.Leu3022His) c.7241T>A (p.Leu2414His) c.7244T>A (p.Leu2415His) n.5507T>A c.8465T>A (p.Leu2822His) c.7844T>A (p.Leu2615His) c.8564T>A (p.Leu2855His) c.9062T>A (p.Leu3021His) c.6659T>A (p.Leu2220His) | |
| 2 | g.237334791G>A | CA351188799 | COL6A3 | c.1611-1243C>T c.8446C>T (p.Leu2816Phe) c.1191C>T c.9064C>T (p.Leu3022Phe) c.7240C>T (p.Leu2414Phe) c.7243C>T (p.Leu2415Phe) n.5506C>T c.8464C>T (p.Leu2822Phe) c.7843C>T (p.Leu2615Phe) c.8563C>T (p.Leu2855Phe) c.9061C>T (p.Leu3021Phe) c.6658C>T (p.Leu2220Phe) | gnomAD v4 |
| 2 | g.237334791G>C | CA351188801 | COL6A3 | c.1611-1243C>G c.8446C>G (p.Leu2816Val) c.1191C>G c.9064C>G (p.Leu3022Val) c.7240C>G (p.Leu2414Val) c.7243C>G (p.Leu2415Val) n.5506C>G c.8464C>G (p.Leu2822Val) c.7843C>G (p.Leu2615Val) c.8563C>G (p.Leu2855Val) c.9061C>G (p.Leu3021Val) c.6658C>G (p.Leu2220Val) | |
| 2 | g.237334791G>T | CA351188805 | COL6A3 | c.1611-1243C>A c.8446C>A (p.Leu2816Ile) c.1191C>A c.9064C>A (p.Leu3022Ile) c.7240C>A (p.Leu2414Ile) c.7243C>A (p.Leu2415Ile) n.5506C>A c.8464C>A (p.Leu2822Ile) c.7843C>A (p.Leu2615Ile) c.8563C>A (p.Leu2855Ile) c.9061C>A (p.Leu3021Ile) c.6658C>A (p.Leu2220Ile) | COSMIC |
| 2 | g.237334791_237334794delinsGGTC | CA1337606459 | COL6A3 | c.1611-1246_1611-1243delinsGACC c.8443_8446delinsGACC (p.Asp2815=) c.1188_1191delinsGACC c.9061_9064delinsGACC (p.Asp3021=) c.7237_7240delinsGACC (p.Asp2413=) c.7240_7243delinsGACC (p.Asp2414=) n.5503_5506delinsGACC c.8461_8464delinsGACC (p.Asp2821=) c.7840_7843delinsGACC (p.Asp2614=) c.8560_8563delinsGACC (p.Asp2854=) c.9058_9061delinsGACC (p.Asp3020=) c.6655_6658delinsGACC (p.Asp2219=) | |
| 2 | g.237334792G>A | CA431699149 | COL6A3 | c.1611-1244C>T c.8445C>T (p.Asp2815=) c.1190C>T c.9063C>T (p.Asp3021=) c.7239C>T (p.Asp2413=) c.7242C>T (p.Asp2414=) n.5505C>T c.8463C>T (p.Asp2821=) c.7842C>T (p.Asp2614=) c.8562C>T (p.Asp2854=) c.9060C>T (p.Asp3020=) c.6657C>T (p.Asp2219=) | |
| 2 | g.237334792G>C | CA351188808 | COL6A3 | c.1611-1244C>G c.8445C>G (p.Asp2815Glu) c.1190C>G c.9063C>G (p.Asp3021Glu) c.7239C>G (p.Asp2413Glu) c.7242C>G (p.Asp2414Glu) n.5505C>G c.8463C>G (p.Asp2821Glu) c.7842C>G (p.Asp2614Glu) c.8562C>G (p.Asp2854Glu) c.9060C>G (p.Asp3020Glu) c.6657C>G (p.Asp2219Glu) | |
| 2 | g.237334792G= | CA1337606460 | COL6A3 | c.1611-1244C= c.8445C= (p.Asp2815=) c.1190C= c.9063C= (p.Asp3021=) c.7239C= (p.Asp2413=) c.7242C= (p.Asp2414=) n.5505C= c.8463C= (p.Asp2821=) c.7842C= (p.Asp2614=) c.8562C= (p.Asp2854=) c.9060C= (p.Asp3020=) c.6657C= (p.Asp2219=) | |
| 2 | g.237334792G>T | CA351188814 | COL6A3 | c.1611-1244C>A c.8445C>A (p.Asp2815Glu) c.1190C>A c.9063C>A (p.Asp3021Glu) c.7239C>A (p.Asp2413Glu) c.7242C>A (p.Asp2414Glu) n.5505C>A c.8463C>A (p.Asp2821Glu) c.7842C>A (p.Asp2614Glu) c.8562C>A (p.Asp2854Glu) c.9060C>A (p.Asp3020Glu) c.6657C>A (p.Asp2219Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237334792_237334794del | CA2187367 | COL6A3 | c.1611-1246_1611-1244del c.8443_8445del (p.Asp2815del) c.1188_1190del c.9061_9063del (p.Asp3021del) c.7237_7239del (p.Asp2413del) c.7240_7242del (p.Asp2414del) n.5503_5505del c.8461_8463del (p.Asp2821del) c.7840_7842del (p.Asp2614del) c.8560_8562del (p.Asp2854del) c.9058_9060del (p.Asp3020del) c.6655_6657del (p.Asp2219del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237334793T>A | CA351188821 | COL6A3 | c.1611-1245A>T c.8444A>T (p.Asp2815Val) c.1189A>T c.9062A>T (p.Asp3021Val) c.7238A>T (p.Asp2413Val) c.7241A>T (p.Asp2414Val) n.5504A>T c.8462A>T (p.Asp2821Val) c.7841A>T (p.Asp2614Val) c.8561A>T (p.Asp2854Val) c.9059A>T (p.Asp3020Val) c.6656A>T (p.Asp2219Val) | |
| 2 | g.237334793T>C | CA351188823 | COL6A3 | c.1611-1245A>G c.8444A>G (p.Asp2815Gly) c.1189A>G c.9062A>G (p.Asp3021Gly) c.7238A>G (p.Asp2413Gly) c.7241A>G (p.Asp2414Gly) n.5504A>G c.8462A>G (p.Asp2821Gly) c.7841A>G (p.Asp2614Gly) c.8561A>G (p.Asp2854Gly) c.9059A>G (p.Asp3020Gly) c.6656A>G (p.Asp2219Gly) | |
| 2 | g.237334793T>G | CA351188827 | COL6A3 | c.1611-1245A>C c.8444A>C (p.Asp2815Ala) c.1189A>C c.9062A>C (p.Asp3021Ala) c.7238A>C (p.Asp2413Ala) c.7241A>C (p.Asp2414Ala) n.5504A>C c.8462A>C (p.Asp2821Ala) c.7841A>C (p.Asp2614Ala) c.8561A>C (p.Asp2854Ala) c.9059A>C (p.Asp3020Ala) c.6656A>C (p.Asp2219Ala) | |
| 2 | g.237334794C>A | CA351188832 | COL6A3 | c.1611-1246G>T c.8443G>T (p.Asp2815Tyr) c.1188G>T c.9061G>T (p.Asp3021Tyr) c.7237G>T (p.Asp2413Tyr) c.7240G>T (p.Asp2414Tyr) n.5503G>T c.8461G>T (p.Asp2821Tyr) c.7840G>T (p.Asp2614Tyr) c.8560G>T (p.Asp2854Tyr) c.9058G>T (p.Asp3020Tyr) c.6655G>T (p.Asp2219Tyr) | gnomAD v4 |
| 2 | g.237334794C= | CA1337606461 | COL6A3 | c.1611-1246G= c.8443G= (p.Asp2815=) c.1188G= c.9061G= (p.Asp3021=) c.7237G= (p.Asp2413=) c.7240G= (p.Asp2414=) n.5503G= c.8461G= (p.Asp2821=) c.7840G= (p.Asp2614=) c.8560G= (p.Asp2854=) c.9058G= (p.Asp3020=) c.6655G= (p.Asp2219=) | |
| 2 | g.237334794C>G | CA245566 | COL6A3 | c.1611-1246G>C c.8443G>C (p.Asp2815His) c.1188G>C c.9061G>C (p.Asp3021His) c.7237G>C (p.Asp2413His) c.7240G>C (p.Asp2414His) n.5503G>C c.8461G>C (p.Asp2821His) c.7840G>C (p.Asp2614His) c.8560G>C (p.Asp2854His) c.9058G>C (p.Asp3020His) c.6655G>C (p.Asp2219His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |