Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC | CA1315402526 | COL3A1 | c.2386_2413delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala796=) c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala829=) | |
2 | g.189002999_189003025del | CA005416 | COL3A1 | c.2391_2417del (p.Gly798_Pro806del) c.2490_2516del (p.Gly831_Pro839del) | ClinVar dbSNP |
2 | g.189002999G>A | CA075363 | COL3A1 | c.2391G>A (p.Pro797=) c.2490G>A (p.Pro830=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002999G>C | CA16604063 | COL3A1 | c.2391G>C (p.Pro797=) c.2490G>C (p.Pro830=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002999G= | CA1315402532 | COL3A1 | c.2391G= (p.Pro797=) c.2490G= (p.Pro830=) | |
2 | g.189002999G>T | CA430311344 | COL3A1 | c.2391G>T (p.Pro797=) c.2490G>T (p.Pro830=) | gnomAD v4 |
2 | g.189003001del | CA2662309702 | COL3A1 | c.2393del (p.Gly798ValfsTer?) c.2492del (p.Gly831ValfsTer?) | gnomAD v4 |
2 | g.189003000G>A | CA349842787 | COL3A1 | c.2392G>A (p.Gly798Ser) c.2491G>A (p.Gly831Ser) | gnomAD v4 |
2 | g.189003000G>C | CA349842788 | COL3A1 | c.2392G>C (p.Gly798Arg) c.2491G>C (p.Gly831Arg) | ClinVar dbSNP |
2 | g.189003000G>T | CA349842789 | COL3A1 | c.2392G>T (p.Gly798Cys) c.2491G>T (p.Gly831Cys) | gnomAD v4 |
2 | g.189003001G>A | CA349842790 | COL3A1 | c.2393G>A (p.Gly798Asp) c.2492G>A (p.Gly831Asp) | gnomAD v4 |
2 | g.189003001G>C | CA349842791 | COL3A1 | c.2393G>C (p.Gly798Ala) c.2492G>C (p.Gly831Ala) | |
2 | g.189003001G>T | CA349842792 | COL3A1 | c.2393G>T (p.Gly798Val) c.2492G>T (p.Gly831Val) | |
2 | g.189003002T>A | CA430311345 | COL3A1 | c.2394T>A (p.Gly798=) c.2493T>A (p.Gly831=) | |
2 | g.189003002T>C | CA075366 | COL3A1 | c.2394T>C (p.Gly798=) c.2493T>C (p.Gly831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003002T>G | CA430311346 | COL3A1 | c.2394T>G (p.Gly798=) c.2493T>G (p.Gly831=) | |
2 | g.189003002T= | CA1315402533 | COL3A1 | c.2394T= (p.Gly798=) c.2493T= (p.Gly831=) | |
2 | g.189003003G>A | CA349842793 | COL3A1 | c.2395G>A (p.Glu799Lys) c.2494G>A (p.Glu832Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189003003G>C | CA349842795 | COL3A1 | c.2395G>C (p.Glu799Gln) c.2494G>C (p.Glu832Gln) | |
2 | g.189003003G= | CA1315402534 | COL3A1 | c.2395G= (p.Glu799=) c.2494G= (p.Glu832=) | |
2 | g.189003003G>T | CA349842794 | COL3A1 | c.2395G>T (p.Glu799Ter) c.2494G>T (p.Glu832Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.189003004A>C | CA349842796 | COL3A1 | c.2396A>C (p.Glu799Ala) c.2495A>C (p.Glu832Ala) | |
2 | g.189003004A>G | CA349842797 | COL3A1 | c.2396A>G (p.Glu799Gly) c.2495A>G (p.Glu832Gly) | |
2 | g.189003004A>T | CA349842798 | COL3A1 | c.2396A>T (p.Glu799Val) c.2495A>T (p.Glu832Val) | |
2 | g.189003005G>A | CA430311347 | COL3A1 | c.2397G>A (p.Glu799=) c.2496G>A (p.Glu832=) | |
2 | g.189003005G>C | CA349842799 | COL3A1 | c.2397G>C (p.Glu799Asp) c.2496G>C (p.Glu832Asp) | |
2 | g.189003005G>T | CA349842800 | COL3A1 | c.2397G>T (p.Glu799Asp) c.2496G>T (p.Glu832Asp) | gnomAD v4 COSMIC COSMIC |
2 | g.189003006A>C | CA349842801 | COL3A1 | c.2398A>C (p.Lys800Gln) c.2497A>C (p.Lys833Gln) | |
2 | g.189003006A>G | CA077826 | COL3A1 | c.2398A>G (p.Lys800Glu) c.2497A>G (p.Lys833Glu) | gnomAD v4 |
2 | g.189003006A>T | CA349842802 | COL3A1 | c.2398A>T (p.Lys800Ter) c.2497A>T (p.Lys833Ter) | |
2 | g.189003008dup | CA077825 | COL3A1 | c.2400dup (p.Gly801ArgfsTer2) c.2499dup (p.Gly834ArgfsTer2) | |
2 | g.189003007A= | CA1315402535 | COL3A1 | c.2399A= (p.Lys800=) c.2498A= (p.Lys833=) | |
2 | g.189003007A>C | CA349842803 | COL3A1 | c.2399A>C (p.Lys800Thr) c.2498A>C (p.Lys833Thr) | |
2 | g.189003007A>G | CA005427 | COL3A1 | c.2399A>G (p.Lys800Arg) c.2498A>G (p.Lys833Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189003007A>T | CA349842804 | COL3A1 | c.2399A>T (p.Lys800Ile) c.2498A>T (p.Lys833Ile) | |
2 | g.189003008A= | CA1315402536 | COL3A1 | c.2400A= (p.Lys800=) c.2499A= (p.Lys833=) | |
2 | g.189003008A>C | CA349842805 | COL3A1 | c.2400A>C (p.Lys800Asn) c.2499A>C (p.Lys833Asn) | |
2 | g.189003008A>G | CA430311349 | COL3A1 | c.2400A>G (p.Lys800=) c.2499A>G (p.Lys833=) | ClinVar gnomAD v4 |
2 | g.189003008A>T | CA349842806 | COL3A1 | c.2400A>T (p.Lys800Asn) c.2499A>T (p.Lys833Asn) | ClinVar dbSNP |
2 | g.189003009G>A | CA349842809 | COL3A1 | c.2401G>A (p.Gly801Ser) c.2500G>A (p.Gly834Ser) | ClinVar |
2 | g.189003009G>C | CA349842808 | COL3A1 | c.2401G>C (p.Gly801Arg) c.2500G>C (p.Gly834Arg) | ClinVar dbSNP |
2 | g.189003009G>T | CA349842807 | COL3A1 | c.2401G>T (p.Gly801Cys) c.2500G>T (p.Gly834Cys) | gnomAD v4 |
2 | g.189003010G>A | CA005435 | COL3A1 | c.2402G>A (p.Gly801Asp) c.2501G>A (p.Gly834Asp) | ClinVar dbSNP |
2 | g.189003010G>C | CA349842810 | COL3A1 | c.2402G>C (p.Gly801Ala) c.2501G>C (p.Gly834Ala) | ClinVar dbSNP |
2 | g.189003010G= | CA1315402537 | COL3A1 | c.2402G= (p.Gly801=) c.2501G= (p.Gly834=) | |
2 | g.189003010G>T | CA349842811 | COL3A1 | c.2402G>T (p.Gly801Val) c.2501G>T (p.Gly834Val) | |
2 | g.189003011T>A | CA430311353 | COL3A1 | c.2403T>A (p.Gly801=) c.2502T>A (p.Gly834=) |