Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189008874_189008884del | CA2662311403 | COL3A1 | c.3427-50_3427-40del (n.3427-50_3427-40del) c.3526-50_3526-40del (n.3526-50_3526-40del) c.2617-50_2617-40del (n.2617-50_2617-40del) n.573_583del | gnomAD v4 |
2 | g.189008877G>A | CA2577185997 | COL3A1 | c.3427-47G>A (n.3427-47G>A) c.3526-47G>A (n.3526-47G>A) c.2617-47G>A (n.2617-47G>A) n.576G>A | |
2 | g.189008877G= | CA1315405447 | COL3A1 | c.3427-47G= (n.3427-47G=) c.3526-47G= (n.3526-47G=) c.2617-47G= (n.2617-47G=) n.576G= | |
2 | g.189008877G>T | CA076180 | COL3A1 | c.3427-47G>T (n.3427-47G>T) c.3526-47G>T (n.3526-47G>T) c.2617-47G>T (n.2617-47G>T) n.576G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008878C>A | CA2662311408 | COL3A1 | c.3427-46C>A (n.3427-46C>A) c.3526-46C>A (n.3526-46C>A) c.2617-46C>A (n.2617-46C>A) n.577C>A | gnomAD v4 |
2 | g.189008878C= | CA1315405448 | COL3A1 | c.3427-46C= (n.3427-46C=) c.3526-46C= (n.3526-46C=) c.2617-46C= (n.2617-46C=) n.577C= | |
2 | g.189008878C>G | CA762209102 | COL3A1 | c.3427-46C>G (n.3427-46C>G) c.3526-46C>G (n.3526-46C>G) c.2617-46C>G (n.2617-46C>G) n.577C>G | dbSNP |
2 | g.189008878C>T | CA62562582 | COL3A1 | c.3427-46C>T (n.3427-46C>T) c.3526-46C>T (n.3526-46C>T) c.2617-46C>T (n.2617-46C>T) n.577C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008879G>A | CA076179 | COL3A1 | c.3427-45G>A (n.3427-45G>A) c.3526-45G>A (n.3526-45G>A) c.2617-45G>A (n.2617-45G>A) n.578G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008879G= | CA1315405449 | COL3A1 | c.3427-45G= (n.3427-45G=) c.3526-45G= (n.3526-45G=) c.2617-45G= (n.2617-45G=) n.578G= | |
2 | g.189008879G>T | CA2662311409 | COL3A1 | c.3427-45G>T (n.3427-45G>T) c.3526-45G>T (n.3526-45G>T) c.2617-45G>T (n.2617-45G>T) n.578G>T | gnomAD v4 |
2 | g.189008880A>T | CA2662311410 | COL3A1 | c.3427-44A>T (n.3427-44A>T) c.3526-44A>T (n.3526-44A>T) c.2617-44A>T (n.2617-44A>T) n.579A>T | gnomAD v4 |
2 | g.189008881C= | CA1315405451 | COL3A1 | c.3427-43C= (n.3427-43C=) c.3526-43C= (n.3526-43C=) c.2617-43C= (n.2617-43C=) n.580C= | |
2 | g.189008881C>T | CA1315405450 | COL3A1 | c.3427-43C>T (n.3427-43C>T) c.3526-43C>T (n.3526-43C>T) c.2617-43C>T (n.2617-43C>T) n.580C>T | dbSNP |
2 | g.189008882T>C | CA2662311411 | COL3A1 | c.3427-42T>C (n.3427-42T>C) c.3526-42T>C (n.3526-42T>C) c.2617-42T>C (n.2617-42T>C) n.581T>C | gnomAD v4 |
2 | g.189008883G>A | CA538462331 | COL3A1 | c.3427-41G>A (n.3427-41G>A) c.3526-41G>A (n.3526-41G>A) c.2617-41G>A (n.2617-41G>A) n.582G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008883G= | CA1315405452 | COL3A1 | c.3427-41G= (n.3427-41G=) c.3526-41G= (n.3526-41G=) c.2617-41G= (n.2617-41G=) n.582G= | |
2 | g.189008884A= | CA1315405453 | COL3A1 | c.3427-40A= (n.3427-40A=) c.3526-40A= (n.3526-40A=) c.2617-40A= (n.2617-40A=) n.583A= | |
2 | g.189008884A>T | CA076178 | COL3A1 | c.3427-40A>T (n.3427-40A>T) c.3526-40A>T (n.3526-40A>T) c.2617-40A>T (n.2617-40A>T) n.583A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189008886T>A | CA538462332 | COL3A1 | c.3427-38T>A (n.3427-38T>A) c.3526-38T>A (n.3526-38T>A) c.2617-38T>A (n.2617-38T>A) n.585T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008886T>C | CA538462333 | COL3A1 | c.3427-38T>C (n.3427-38T>C) c.3526-38T>C (n.3526-38T>C) c.2617-38T>C (n.2617-38T>C) n.585T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008886T= | CA1315405454 | COL3A1 | c.3427-38T= (n.3427-38T=) c.3526-38T= (n.3526-38T=) c.2617-38T= (n.2617-38T=) n.585T= | |
2 | g.189008887G>A | CA62562594 | COL3A1 | c.3427-37G>A (n.3427-37G>A) c.3526-37G>A (n.3526-37G>A) c.2617-37G>A (n.2617-37G>A) n.586G>A | dbSNP |
2 | g.189008887G= | CA1315405455 | COL3A1 | c.3427-37G= (n.3427-37G=) c.3526-37G= (n.3526-37G=) c.2617-37G= (n.2617-37G=) n.586G= | |
2 | g.189008888T>G | CA2577185998 | COL3A1 | c.3427-36T>G (n.3427-36T>G) c.3526-36T>G (n.3526-36T>G) c.2617-36T>G (n.2617-36T>G) n.587T>G | |
2 | g.189008889G>A | CA2662311412 | COL3A1 | c.3427-35G>A (n.3427-35G>A) c.3526-35G>A (n.3526-35G>A) c.2617-35G>A (n.2617-35G>A) n.588G>A | gnomAD v4 |
2 | g.189008890C>A | CA2662311413 | COL3A1 | c.3427-34C>A (n.3427-34C>A) c.3526-34C>A (n.3526-34C>A) c.2617-34C>A (n.2617-34C>A) n.589C>A | gnomAD v4 |
2 | g.189008890C>T | CA2577185999 | COL3A1 | c.3427-34C>T (n.3427-34C>T) c.3526-34C>T (n.3526-34C>T) c.2617-34C>T (n.2617-34C>T) n.589C>T | gnomAD v4 |
2 | g.189008891del | CA2753584202 | COL3A1 | c.3427-33del (n.3427-33del) c.3526-33del (n.3526-33del) c.2617-33del (n.2617-33del) n.590del | |
2 | g.189008891A= | CA1315405456 | COL3A1 | c.3427-33A= (n.3427-33A=) c.3526-33A= (n.3526-33A=) c.2617-33A= (n.2617-33A=) n.590A= | |
2 | g.189008891A>T | CA076176 | COL3A1 | c.3427-33A>T (n.3427-33A>T) c.3526-33A>T (n.3526-33A>T) c.2617-33A>T (n.2617-33A>T) n.590A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008891dup | CA2662311414 | COL3A1 | c.3427-33dup (n.3427-33dup) c.3526-33dup (n.3526-33dup) c.2617-33dup (n.2617-33dup) n.590dup | gnomAD v4 |
2 | g.189008893A= | CA1315405457 | COL3A1 | c.3427-31A= (n.3427-31A=) c.3526-31A= (n.3526-31A=) c.2617-31A= (n.2617-31A=) n.592A= | |
2 | g.189008893A>C | CA538462334 | COL3A1 | c.3427-31A>C (n.3427-31A>C) c.3526-31A>C (n.3526-31A>C) c.2617-31A>C (n.2617-31A>C) n.592A>C | dbSNP gnomAD v2 |
2 | g.189008893A>G | CA2662311415 | COL3A1 | c.3427-31A>G (n.3427-31A>G) c.3526-31A>G (n.3526-31A>G) c.2617-31A>G (n.2617-31A>G) n.592A>G | gnomAD v4 |
2 | g.189008893_189008894delinsAC | CA1315405458 | COL3A1 | c.3427-31_3427-30delinsAC (n.3427-31_3427-30delinsAC) c.3526-31_3526-30delinsAC (n.3526-31_3526-30delinsAC) c.2617-31_2617-30delinsAC (n.2617-31_2617-30delinsAC) n.592_593delinsAC | |
2 | g.189008894C>A | CA1315405461 | COL3A1 | c.3427-30C>A (n.3427-30C>A) c.3526-30C>A (n.3526-30C>A) c.2617-30C>A (n.2617-30C>A) n.593C>A | dbSNP gnomAD v4 |
2 | g.189008894C= | CA1315405460 | COL3A1 | c.3427-30C= (n.3427-30C=) c.3526-30C= (n.3526-30C=) c.2617-30C= (n.2617-30C=) n.593C= | |
2 | g.189008895del | CA1315405459 | COL3A1 | c.3427-29del (n.3427-29del) c.3526-29del (n.3526-29del) c.2617-29del (n.2617-29del) n.594del | dbSNP |
2 | g.189008895C>G | CA2662311416 | COL3A1 | c.3427-29C>G (n.3427-29C>G) c.3526-29C>G (n.3526-29C>G) c.2617-29C>G (n.2617-29C>G) n.594C>G | gnomAD v4 |
2 | g.189008895C>T | CA430406514 | COL3A1 | c.3427-29C>T (n.3427-29C>T) c.3526-29C>T (n.3526-29C>T) c.2617-29C>T (n.2617-29C>T) n.594C>T | gnomAD v4 |
2 | g.189008897C>A | CA2577186000 | COL3A1 | c.3427-27C>A (n.3427-27C>A) c.3526-27C>A (n.3526-27C>A) c.2617-27C>A (n.2617-27C>A) n.596C>A | |
2 | g.189008897C>T | CA2577186001 | COL3A1 | c.3427-27C>T (n.3427-27C>T) c.3526-27C>T (n.3526-27C>T) c.2617-27C>T (n.2617-27C>T) n.596C>T | |
2 | g.189008898A= | CA1315405462 | COL3A1 | c.3427-26A= (n.3427-26A=) c.3526-26A= (n.3526-26A=) c.2617-26A= (n.2617-26A=) n.597A= | |
2 | g.189008898A>G | CA076174 | COL3A1 | c.3427-26A>G (n.3427-26A>G) c.3526-26A>G (n.3526-26A>G) c.2617-26A>G (n.2617-26A>G) n.597A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008899A= | CA1315405463 | COL3A1 | c.3427-25A= (n.3427-25A=) c.3526-25A= (n.3526-25A=) c.2617-25A= (n.2617-25A=) n.598A= | |
2 | g.189008899A>C | CA2701067733 | COL3A1 | c.3427-25A>C (n.3427-25A>C) c.3526-25A>C (n.3526-25A>C) c.2617-25A>C (n.2617-25A>C) n.598A>C | dbSNP |
2 | g.189008899A>G | CA1315405464 | COL3A1 | c.3427-25A>G (n.3427-25A>G) c.3526-25A>G (n.3526-25A>G) c.2617-25A>G (n.2617-25A>G) n.598A>G | dbSNP gnomAD v4 |
2 | g.189008900T>C | CA2662311417 | COL3A1 | c.3427-24T>C (n.3427-24T>C) c.3526-24T>C (n.3526-24T>C) c.2617-24T>C (n.2617-24T>C) n.599T>C | gnomAD v4 |
2 | g.189008901G>A | CA2662311418 | COL3A1 | c.3427-23G>A (n.3427-23G>A) c.3526-23G>A (n.3526-23G>A) c.2617-23G>A (n.2617-23G>A) n.600G>A | gnomAD v4 |
2 | g.189008901G>C | CA2662311419 | COL3A1 | c.3427-23G>C (n.3427-23G>C) c.3526-23G>C (n.3526-23G>C) c.2617-23G>C (n.2617-23G>C) n.600G>C | gnomAD v4 |
2 | g.189008902A= | CA1315405465 | COL3A1 | c.3427-22A= (n.3427-22A=) c.3526-22A= (n.3526-22A=) c.2617-22A= (n.2617-22A=) n.601A= | |
2 | g.189008902A>G | CA076173 | COL3A1 | c.3427-22A>G (n.3427-22A>G) c.3526-22A>G (n.3526-22A>G) c.2617-22A>G (n.2617-22A>G) n.601A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189008903T>C | CA2549463230 | COL3A1 | c.3427-21T>C (n.3427-21T>C) c.3526-21T>C (n.3526-21T>C) c.2617-21T>C (n.2617-21T>C) n.602T>C | |
2 | g.189008903T>G | CA2577186002 | COL3A1 | c.3427-21T>G (n.3427-21T>G) c.3526-21T>G (n.3526-21T>G) c.2617-21T>G (n.2617-21T>G) n.602T>G | |
2 | g.189008905C>A | CA2662311420 | COL3A1 | c.3427-19C>A (n.3427-19C>A) c.3526-19C>A (n.3526-19C>A) c.2617-19C>A (n.2617-19C>A) n.604C>A | gnomAD v4 |
2 | g.189008906A>G | CA2577186003 | COL3A1 | c.3427-18A>G (n.3427-18A>G) c.3526-18A>G (n.3526-18A>G) c.2617-18A>G (n.2617-18A>G) n.605A>G | |
2 | g.189008907T>C | CA076171 | COL3A1 | c.3427-17T>C (n.3427-17T>C) c.3526-17T>C (n.3526-17T>C) c.2617-17T>C (n.2617-17T>C) n.606T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008907T= | CA1315405466 | COL3A1 | c.3427-17T= (n.3427-17T=) c.3526-17T= (n.3526-17T=) c.2617-17T= (n.2617-17T=) n.606T= | |
2 | g.189008908G>A | CA076169 | COL3A1 | c.3427-16G>A (n.3427-16G>A) c.3526-16G>A (n.3526-16G>A) c.2617-16G>A (n.2617-16G>A) n.607G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189008908G= | CA1315405467 | COL3A1 | c.3427-16G= (n.3427-16G=) c.3526-16G= (n.3526-16G=) c.2617-16G= (n.2617-16G=) n.607G= | |
2 | g.189008909T>C | CA2753584203 | COL3A1 | c.3427-15T>C (n.3427-15T>C) c.3526-15T>C (n.3526-15T>C) c.2617-15T>C (n.2617-15T>C) n.608T>C | |
2 | g.189008911T>G | CA076168 | COL3A1 | c.3427-13T>G (n.3427-13T>G) c.3526-13T>G (n.3526-13T>G) c.2617-13T>G (n.2617-13T>G) n.610T>G | dbSNP ExAC gnomAD v4 |
2 | g.189008911T= | CA1315405468 | COL3A1 | c.3427-13T= (n.3427-13T=) c.3526-13T= (n.3526-13T=) c.2617-13T= (n.2617-13T=) n.610T= | |
2 | g.189008912T>C | CA430406515 | COL3A1 | c.3427-12T>C (n.3427-12T>C) c.3526-12T>C (n.3526-12T>C) c.2617-12T>C (n.2617-12T>C) n.611T>C | |
2 | g.189008913A>T | CA2740351981 | COL3A1 | c.3427-11A>T (n.3427-11A>T) c.3526-11A>T (n.3526-11A>T) c.2617-11A>T (n.2617-11A>T) n.612A>T | |
2 | g.189008913dup | CA2662311421 | COL3A1 | c.3427-11dup (n.3427-11dup) c.3526-11dup (n.3526-11dup) c.2617-11dup (n.2617-11dup) n.612dup | gnomAD v4 |
2 | g.189008914C= | CA1315405469 | COL3A1 | c.3427-10C= (n.3427-10C=) c.3526-10C= (n.3526-10C=) c.2617-10C= (n.2617-10C=) n.613C= | |
2 | g.189008914C>T | CA076166 | COL3A1 | c.3427-10C>T (n.3427-10C>T) c.3526-10C>T (n.3526-10C>T) c.2617-10C>T (n.2617-10C>T) n.613C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008915T>A | CA430406516 | COL3A1 | c.3427-9T>A (n.3427-9T>A) c.3526-9T>A (n.3526-9T>A) c.2617-9T>A (n.2617-9T>A) n.614T>A | COSMIC |
2 | g.189008915T>C | CA2662311422 | COL3A1 | c.3427-9T>C (n.3427-9T>C) c.3526-9T>C (n.3526-9T>C) c.2617-9T>C (n.2617-9T>C) n.614T>C | gnomAD v4 |
2 | g.189008916C>A | CA1315405471 | COL3A1 | c.3427-8C>A (n.3427-8C>A) c.3526-8C>A (n.3526-8C>A) c.2617-8C>A (n.2617-8C>A) n.615C>A | dbSNP |
2 | g.189008916C= | CA1315405470 | COL3A1 | c.3427-8C= (n.3427-8C=) c.3526-8C= (n.3526-8C=) c.2617-8C= (n.2617-8C=) n.615C= | |
2 | g.189008917A>G | CA2573134227 | COL3A1 | c.3427-7A>G (n.3427-7A>G) c.3526-7A>G (n.3526-7A>G) c.2617-7A>G (n.2617-7A>G) n.616A>G | ClinVar dbSNP |
2 | g.189008918T>C | CA1315405473 | COL3A1 | c.3427-6T>C (n.3427-6T>C) c.3526-6T>C (n.3526-6T>C) c.2617-6T>C (n.2617-6T>C) n.617T>C | ClinVar dbSNP gnomAD v4 |
2 | g.189008918T= | CA1315405472 | COL3A1 | c.3427-6T= (n.3427-6T=) c.3526-6T= (n.3526-6T=) c.2617-6T= (n.2617-6T=) n.617T= | |
2 | g.189008920C>T | CA2697551458 | COL3A1 | c.3427-4C>T (n.3427-4C>T) c.3526-4C>T (n.3526-4C>T) c.2617-4C>T (n.2617-4C>T) n.619C>T | ClinVar |
2 | g.189008921T>C | CA1315405475 | COL3A1 | c.3427-3T>C (n.3427-3T>C) c.3526-3T>C (n.3526-3T>C) c.2617-3T>C (n.2617-3T>C) n.620T>C | dbSNP gnomAD v4 |
2 | g.189008921T= | CA1315405474 | COL3A1 | c.3427-3T= (n.3427-3T=) c.3526-3T= (n.3526-3T=) c.2617-3T= (n.2617-3T=) n.620T= | |
2 | g.189008922A>C | CA349846570 | COL3A1 | c.3427-2A>C (n.3427-2A>C) c.3526-2A>C (n.3526-2A>C) c.2617-2A>C (n.2617-2A>C) n.621A>C | |
2 | g.189008922A>G | CA349846571 | COL3A1 | c.3427-2A>G (n.3427-2A>G) c.3526-2A>G (n.3526-2A>G) c.2617-2A>G (n.2617-2A>G) n.621A>G | |
2 | g.189008922A>T | CA349846572 | COL3A1 | c.3427-2A>T (n.3427-2A>T) c.3526-2A>T (n.3526-2A>T) c.2617-2A>T (n.2617-2A>T) n.621A>T | |
2 | g.189008923G>A | CA349846573 | COL3A1 | c.3427-1G>A (n.3427-1G>A) c.3526-1G>A (n.3526-1G>A) c.2617-1G>A (n.2617-1G>A) n.622G>A | dbSNP |
2 | g.189008923G>C | CA349846574 | COL3A1 | c.3427-1G>C (n.3427-1G>C) c.3526-1G>C (n.3526-1G>C) c.2617-1G>C (n.2617-1G>C) n.622G>C | ClinVar |
2 | g.189008923G>T | CA349846575 | COL3A1 | c.3427-1G>T (n.3427-1G>T) c.3526-1G>T (n.3526-1G>T) c.2617-1G>T (n.2617-1G>T) n.622G>T | |
2 | g.189008925del | CA2662311423 | COL3A1 | c.3428del c.3527del c.2618del n.624del | gnomAD v4 |
2 | g.189008924G>A | CA349846576 | COL3A1 | c.3427G>A (p.Gly1143Ser) c.3526G>A (p.Gly1176Ser) c.2617G>A (p.Gly873Ser) n.623G>A | dbSNP |
2 | g.189008924G>C | CA349846577 | COL3A1 | c.3427G>C (p.Gly1143Arg) c.3526G>C (p.Gly1176Arg) c.2617G>C (p.Gly873Arg) n.623G>C | |
2 | g.189008924G>T | CA349846578 | COL3A1 | c.3427G>T (p.Gly1143Cys) c.3526G>T (p.Gly1176Cys) c.2617G>T (p.Gly873Cys) n.623G>T | |
2 | g.189008925G>A | CA349846579 | COL3A1 | c.3428G>A (p.Gly1143Asp) c.3527G>A (p.Gly1176Asp) c.2618G>A (p.Gly873Asp) n.624G>A | ClinVar dbSNP |
2 | g.189008925G>C | CA349846580 | COL3A1 | c.3428G>C (p.Gly1143Ala) c.3527G>C (p.Gly1176Ala) c.2618G>C (p.Gly873Ala) n.624G>C | |
2 | g.189008925G= | CA1315405477 | COL3A1 | c.3428G= (p.Gly1143=) c.3527G= (p.Gly1176=) c.2618G= (p.Gly873=) n.624G= | |
2 | g.189008925G>T | CA349846581 | COL3A1 | c.3428G>T (p.Gly1143Val) c.3527G>T (p.Gly1176Val) c.2618G>T (p.Gly873Val) n.624G>T | ClinVar dbSNP |
2 | g.189008925_189008926delinsAA | CA006600 | COL3A1 | c.3428_3429delinsAA (p.Gly1143Glu) c.3527_3528delinsAA (p.Gly1176Glu) c.2618_2619delinsAA (p.Gly873Glu) n.624_625delinsAA | ClinVar dbSNP |
2 | g.189008925_189008926delinsGC | CA1315405476 | COL3A1 | c.3428_3429delinsGC (p.Gly1143=) c.3527_3528delinsGC (p.Gly1176=) c.2618_2619delinsGC (p.Gly873=) n.624_625delinsGC | |
2 | g.189008926C>A | CA430406517 | COL3A1 | c.3429C>A (p.Gly1143=) c.3528C>A (p.Gly1176=) c.2619C>A (p.Gly873=) n.625C>A | |
2 | g.189008926C>G | CA430406518 | COL3A1 | c.3429C>G (p.Gly1143=) c.3528C>G (p.Gly1176=) c.2619C>G (p.Gly873=) n.625C>G | |
2 | g.189008926C>T | CA430406519 | COL3A1 | c.3429C>T (p.Gly1143=) c.3528C>T (p.Gly1176=) c.2619C>T (p.Gly873=) n.625C>T | |
2 | g.189008927T>A | CA349846582 | COL3A1 | c.3430T>A (p.Ser1144Thr) c.3529T>A (p.Ser1177Thr) c.2620T>A (p.Ser874Thr) n.626T>A | ClinVar dbSNP |
2 | g.189008927T>C | CA62562654 | COL3A1 | c.3430T>C (p.Ser1144Pro) c.3529T>C (p.Ser1177Pro) c.2620T>C (p.Ser874Pro) n.626T>C | dbSNP |
2 | g.189008927T>G | CA349846583 | COL3A1 | c.3430T>G (p.Ser1144Ala) c.3529T>G (p.Ser1177Ala) c.2620T>G (p.Ser874Ala) n.626T>G | |
2 | g.189008927T= | CA1315405478 | COL3A1 | c.3430T= (p.Ser1144=) c.3529T= (p.Ser1177=) c.2620T= (p.Ser874=) n.626T= | |
2 | g.189008928C>A | CA349846584 | COL3A1 | c.3431C>A (p.Ser1144Tyr) c.3530C>A (p.Ser1177Tyr) c.2621C>A (p.Ser874Tyr) n.627C>A | |
2 | g.189008928C= | CA1315405479 | COL3A1 | c.3431C= (p.Ser1144=) c.3530C= (p.Ser1177=) c.2621C= (p.Ser874=) n.627C= | |
2 | g.189008928C>G | CA349846586 | COL3A1 | c.3431C>G (p.Ser1144Cys) c.3530C>G (p.Ser1177Cys) c.2621C>G (p.Ser874Cys) n.627C>G | |
2 | g.189008928C>T | CA349846585 | COL3A1 | c.3431C>T (p.Ser1144Phe) c.3530C>T (p.Ser1177Phe) c.2621C>T (p.Ser874Phe) n.627C>T | ClinVar dbSNP gnomAD v4 |
2 | g.189008929C>A | CA430406520 | COL3A1 | c.3432C>A (p.Ser1144=) c.3531C>A (p.Ser1177=) c.2622C>A (p.Ser874=) n.628C>A | |
2 | g.189008929C= | CA1315405480 | COL3A1 | c.3432C= (p.Ser1144=) c.3531C= (p.Ser1177=) c.2622C= (p.Ser874=) n.628C= | |
2 | g.189008929C>G | CA430406521 | COL3A1 | c.3432C>G (p.Ser1144=) c.3531C>G (p.Ser1177=) c.2622C>G (p.Ser874=) n.628C>G | |
2 | g.189008929C>T | CA430406522 | COL3A1 | c.3432C>T (p.Ser1144=) c.3531C>T (p.Ser1177=) c.2622C>T (p.Ser874=) n.628C>T | ClinVar dbSNP gnomAD v2 |
2 | g.189008935_189008943del | CA2662311424 | COL3A1 | c.3438_3446del (p.His1147_Gly1149del) c.3537_3545del (p.His1180_Gly1182del) c.2628_2636del (p.His877_Gly879del) n.634_642del | gnomAD v4 |
2 | g.189008930C>A | CA349846587 | COL3A1 | c.3433C>A (p.Pro1145Thr) c.3532C>A (p.Pro1178Thr) c.2623C>A (p.Pro875Thr) n.629C>A | |
2 | g.189008930C= | CA1315405481 | COL3A1 | c.3433C= (p.Pro1145=) c.3532C= (p.Pro1178=) c.2623C= (p.Pro875=) n.629C= | |
2 | g.189008930C>G | CA076185 | COL3A1 | c.3433C>G (p.Pro1145Ala) c.3532C>G (p.Pro1178Ala) c.2623C>G (p.Pro875Ala) n.629C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189008930C>T | CA62562669 | COL3A1 | c.3433C>T (p.Pro1145Ser) c.3532C>T (p.Pro1178Ser) c.2623C>T (p.Pro875Ser) n.629C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008931C>A | CA349846588 | COL3A1 | c.3434C>A (p.Pro1145Gln) c.3533C>A (p.Pro1178Gln) c.2624C>A (p.Pro875Gln) n.630C>A | ClinVar dbSNP |
2 | g.189008931C>G | CA349846589 | COL3A1 | c.3434C>G (p.Pro1145Arg) c.3533C>G (p.Pro1178Arg) c.2624C>G (p.Pro875Arg) n.630C>G | |
2 | g.189008931C>T | CA349846590 | COL3A1 | c.3434C>T (p.Pro1145Leu) c.3533C>T (p.Pro1178Leu) c.2624C>T (p.Pro875Leu) n.630C>T | gnomAD v4 |
2 | g.189008932A= | CA1315405482 | COL3A1 | c.3435A= (p.Pro1145=) c.3534A= (p.Pro1178=) c.2625A= (p.Pro875=) n.631A= | |
2 | g.189008932A>C | CA430406524 | COL3A1 | c.3435A>C (p.Pro1145=) c.3534A>C (p.Pro1178=) c.2625A>C (p.Pro875=) n.631A>C | dbSNP |
2 | g.189008932A>G | CA430406525 | COL3A1 | c.3435A>G (p.Pro1145=) c.3534A>G (p.Pro1178=) c.2625A>G (p.Pro875=) n.631A>G | gnomAD v4 |
2 | g.189008932A>T | CA430406523 | COL3A1 | c.3435A>T (p.Pro1145=) c.3534A>T (p.Pro1178=) c.2625A>T (p.Pro875=) n.631A>T | |
2 | g.189008933G>A | CA349846591 | COL3A1 | c.3436G>A (p.Gly1146Ser) c.3535G>A (p.Gly1179Ser) c.2626G>A (p.Gly876Ser) n.632G>A | |
2 | g.189008933G>C | CA006609 | COL3A1 | c.3436G>C (p.Gly1146Arg) c.3535G>C (p.Gly1179Arg) c.2626G>C (p.Gly876Arg) n.632G>C | ClinVar dbSNP |
2 | g.189008933G= | CA1315405483 | COL3A1 | c.3436G= (p.Gly1146=) c.3535G= (p.Gly1179=) c.2626G= (p.Gly876=) n.632G= | |
2 | g.189008933G>T | CA349846592 | COL3A1 | c.3436G>T (p.Gly1146Cys) c.3535G>T (p.Gly1179Cys) c.2626G>T (p.Gly876Cys) n.632G>T | |
2 | g.189008934G>A | CA349846593 | COL3A1 | c.3437G>A (p.Gly1146Asp) c.3536G>A (p.Gly1179Asp) c.2627G>A (p.Gly876Asp) n.633G>A | |
2 | g.189008934G>C | CA349846594 | COL3A1 | c.3437G>C (p.Gly1146Ala) c.3536G>C (p.Gly1179Ala) c.2627G>C (p.Gly876Ala) n.633G>C | |
2 | g.189008934G= | CA1315405484 | COL3A1 | c.3437G= (p.Gly1146=) c.3536G= (p.Gly1179=) c.2627G= (p.Gly876=) n.633G= | |
2 | g.189008934G>T | CA006617 | COL3A1 | c.3437G>T (p.Gly1146Val) c.3536G>T (p.Gly1179Val) c.2627G>T (p.Gly876Val) n.633G>T | ClinVar dbSNP |
2 | g.189008935C>A | CA076187 | COL3A1 | c.3438C>A (p.Gly1146=) c.3537C>A (p.Gly1179=) c.2628C>A (p.Gly876=) n.634C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008935C= | CA1315405485 | COL3A1 | c.3438C= (p.Gly1146=) c.3537C= (p.Gly1179=) c.2628C= (p.Gly876=) n.634C= | |
2 | g.189008935C>G | CA430406526 | COL3A1 | c.3438C>G (p.Gly1146=) c.3537C>G (p.Gly1179=) c.2628C>G (p.Gly876=) n.634C>G | |
2 | g.189008935C>T | CA430406527 | COL3A1 | c.3438C>T (p.Gly1146=) c.3537C>T (p.Gly1179=) c.2628C>T (p.Gly876=) n.634C>T | ClinVar dbSNP gnomAD v2 |
2 | g.189008936C>A | CA349846595 | COL3A1 | c.3439C>A (p.His1147Asn) c.3538C>A (p.His1180Asn) c.2629C>A (p.His877Asn) n.635C>A | |
2 | g.189008936C>G | CA349846596 | COL3A1 | c.3439C>G (p.His1147Asp) c.3538C>G (p.His1180Asp) c.2629C>G (p.His877Asp) n.635C>G | |
2 | g.189008936C>T | CA349846597 | COL3A1 | c.3439C>T (p.His1147Tyr) c.3538C>T (p.His1180Tyr) c.2629C>T (p.His877Tyr) n.635C>T | ClinVar dbSNP COSMIC COSMIC |
2 | g.189008937A>C | CA349846598 | COL3A1 | c.3440A>C (p.His1147Pro) c.3539A>C (p.His1180Pro) c.2630A>C (p.His877Pro) n.636A>C | |
2 | g.189008937A>G | CA349846599 | COL3A1 | c.3440A>G (p.His1147Arg) c.3539A>G (p.His1180Arg) c.2630A>G (p.His877Arg) n.636A>G | gnomAD v4 |
2 | g.189008937A>T | CA349846600 | COL3A1 | c.3440A>T (p.His1147Leu) c.3539A>T (p.His1180Leu) c.2630A>T (p.His877Leu) n.636A>T | |
2 | g.189008938C>A | CA349846601 | COL3A1 | c.3441C>A (p.His1147Gln) c.3540C>A (p.His1180Gln) c.2631C>A (p.His877Gln) n.637C>A | gnomAD v4 |
2 | g.189008938C>G | CA349846602 | COL3A1 | c.3441C>G (p.His1147Gln) c.3540C>G (p.His1180Gln) c.2631C>G (p.His877Gln) n.637C>G | |
2 | g.189008938C>T | CA430406528 | COL3A1 | c.3441C>T (p.His1147=) c.3540C>T (p.His1180=) c.2631C>T (p.His877=) n.637C>T | |
2 | g.189008939C>A | CA349846603 | COL3A1 | c.3442C>A (p.Pro1148Thr) c.3541C>A (p.Pro1181Thr) c.2632C>A (p.Pro878Thr) n.638C>A | |
2 | g.189008939C>G | CA349846604 | COL3A1 | c.3442C>G (p.Pro1148Ala) c.3541C>G (p.Pro1181Ala) c.2632C>G (p.Pro878Ala) n.638C>G | |
2 | g.189008939C>T | CA349846605 | COL3A1 | c.3442C>T (p.Pro1148Ser) c.3541C>T (p.Pro1181Ser) c.2632C>T (p.Pro878Ser) n.638C>T | |
2 | g.189008940C>A | CA349846606 | COL3A1 | c.3443C>A (p.Pro1148Gln) c.3542C>A (p.Pro1181Gln) c.2633C>A (p.Pro878Gln) n.639C>A | |
2 | g.189008940C>G | CA349846607 | COL3A1 | c.3443C>G (p.Pro1148Arg) c.3542C>G (p.Pro1181Arg) c.2633C>G (p.Pro878Arg) n.639C>G | ClinVar |
2 | g.189008940C>T | CA349846608 | COL3A1 | c.3443C>T (p.Pro1148Leu) c.3542C>T (p.Pro1181Leu) c.2633C>T (p.Pro878Leu) n.639C>T | |
2 | g.189008941A>C | CA430406529 | COL3A1 | c.3444A>C (p.Pro1148=) c.3543A>C (p.Pro1181=) c.2634A>C (p.Pro878=) n.640A>C | |
2 | g.189008941A>G | CA430406530 | COL3A1 | c.3444A>G (p.Pro1148=) c.3543A>G (p.Pro1181=) c.2634A>G (p.Pro878=) n.640A>G | |
2 | g.189008941A>T | CA430406531 | COL3A1 | c.3444A>T (p.Pro1148=) c.3543A>T (p.Pro1181=) c.2634A>T (p.Pro878=) n.640A>T | |
2 | g.189008942G>A | CA006624 | COL3A1 | c.3445G>A (p.Gly1149Arg) c.3544G>A (p.Gly1182Arg) c.2635G>A (p.Gly879Arg) n.641G>A | ClinVar dbSNP |
2 | g.189008942G>C | CA10602846 | COL3A1 | c.3445G>C (p.Gly1149Arg) c.3544G>C (p.Gly1182Arg) c.2635G>C (p.Gly879Arg) n.641G>C | ClinVar dbSNP |
2 | g.189008942G= | CA1315405486 | COL3A1 | c.3445G= (p.Gly1149=) c.3544G= (p.Gly1182=) c.2635G= (p.Gly879=) n.641G= | |
2 | g.189008942G>T | CA349846609 | COL3A1 | c.3445G>T (p.Gly1149Trp) c.3544G>T (p.Gly1182Trp) c.2635G>T (p.Gly879Trp) n.641G>T | |
2 | g.189008943G>A | CA006633 | COL3A1 | c.3446G>A (p.Gly1149Glu) c.3545G>A (p.Gly1182Glu) c.2636G>A (p.Gly879Glu) n.642G>A | ClinVar dbSNP |
2 | g.189008943G>C | CA349846610 | COL3A1 | c.3446G>C (p.Gly1149Ala) c.3545G>C (p.Gly1182Ala) c.2636G>C (p.Gly879Ala) n.642G>C | |
2 | g.189008943G= | CA1315405487 | COL3A1 | c.3446G= (p.Gly1149=) c.3545G= (p.Gly1182=) c.2636G= (p.Gly879=) n.642G= | |
2 | g.189008943G>T | CA006641 | COL3A1 | c.3446G>T (p.Gly1149Val) c.3545G>T (p.Gly1182Val) c.2636G>T (p.Gly879Val) n.642G>T | ClinVar dbSNP |
2 | g.189008944G>A | CA430406532 | COL3A1 | c.3447G>A (p.Gly1149=) c.3546G>A (p.Gly1182=) c.2637G>A (p.Gly879=) n.643G>A | COSMIC COSMIC |
2 | g.189008944G>C | CA430406533 | COL3A1 | c.3447G>C (p.Gly1149=) c.3546G>C (p.Gly1182=) c.2637G>C (p.Gly879=) n.643G>C | |
2 | g.189008944G>T | CA430406534 | COL3A1 | c.3447G>T (p.Gly1149=) c.3546G>T (p.Gly1182=) c.2637G>T (p.Gly879=) n.643G>T | |
2 | g.189008945C>A | CA349846611 | COL3A1 | c.3448C>A (p.Gln1150Lys) c.3547C>A (p.Gln1183Lys) c.2638C>A (p.Gln880Lys) n.644C>A | COSMIC COSMIC |
2 | g.189008945C>G | CA349846612 | COL3A1 | c.3448C>G (p.Gln1150Glu) c.3547C>G (p.Gln1183Glu) c.2638C>G (p.Gln880Glu) n.644C>G | |
2 | g.189008945C>T | CA349846613 | COL3A1 | c.3448C>T (p.Gln1150Ter) c.3547C>T (p.Gln1183Ter) c.2638C>T (p.Gln880Ter) n.644C>T | |
2 | g.189008946A>C | CA349846614 | COL3A1 | c.3449A>C (p.Gln1150Pro) c.3548A>C (p.Gln1183Pro) c.2639A>C (p.Gln880Pro) n.645A>C | |
2 | g.189008946A>G | CA349846615 | COL3A1 | c.3449A>G (p.Gln1150Arg) c.3548A>G (p.Gln1183Arg) c.2639A>G (p.Gln880Arg) n.645A>G | |
2 | g.189008946A>T | CA349846616 | COL3A1 | c.3449A>T (p.Gln1150Leu) c.3548A>T (p.Gln1183Leu) c.2639A>T (p.Gln880Leu) n.645A>T | |
2 | g.189008947A>C | CA349846617 | COL3A1 | c.3450A>C (p.Gln1150His) c.3549A>C (p.Gln1183His) c.2640A>C (p.Gln880His) n.646A>C | |
2 | g.189008947A>G | CA430406535 | COL3A1 | c.3450A>G (p.Gln1150=) c.3549A>G (p.Gln1183=) c.2640A>G (p.Gln880=) n.646A>G | |
2 | g.189008947A>T | CA349846618 | COL3A1 | c.3450A>T (p.Gln1150His) c.3549A>T (p.Gln1183His) c.2640A>T (p.Gln880His) n.646A>T | |
2 | g.189008948C>A | CA349846621 | COL3A1 | c.3451C>A (p.Pro1151Thr) c.3550C>A (p.Pro1184Thr) c.2641C>A (p.Pro881Thr) n.647C>A | |
2 | g.189008948C= | CA1315405488 | COL3A1 | c.3451C= (p.Pro1151=) c.3550C= (p.Pro1184=) c.2641C= (p.Pro881=) n.647C= | |
2 | g.189008948C>G | CA349846620 | COL3A1 | c.3451C>G (p.Pro1151Ala) c.3550C>G (p.Pro1184Ala) c.2641C>G (p.Pro881Ala) n.647C>G | |
2 | g.189008948C>T | CA349846619 | COL3A1 | c.3451C>T (p.Pro1151Ser) c.3550C>T (p.Pro1184Ser) c.2641C>T (p.Pro881Ser) n.647C>T | dbSNP gnomAD v4 |
2 | g.189008949C>A | CA349846622 | COL3A1 | c.3452C>A (p.Pro1151Gln) c.3551C>A (p.Pro1184Gln) c.2642C>A (p.Pro881Gln) n.648C>A | |
2 | g.189008949C= | CA1315405489 | COL3A1 | c.3452C= (p.Pro1151=) c.3551C= (p.Pro1184=) c.2642C= (p.Pro881=) n.648C= | |
2 | g.189008949C>G | CA349846623 | COL3A1 | c.3452C>G (p.Pro1151Arg) c.3551C>G (p.Pro1184Arg) c.2642C>G (p.Pro881Arg) n.648C>G | ClinVar dbSNP |
2 | g.189008949C>T | CA349846624 | COL3A1 | c.3452C>T (p.Pro1151Leu) c.3551C>T (p.Pro1184Leu) c.2642C>T (p.Pro881Leu) n.648C>T | |
2 | g.189008950A>C | CA430406536 | COL3A1 | c.3453A>C (p.Pro1151=) c.3552A>C (p.Pro1184=) c.2643A>C (p.Pro881=) n.649A>C | |
2 | g.189008950A>G | CA430406537 | COL3A1 | c.3453A>G (p.Pro1151=) c.3552A>G (p.Pro1184=) c.2643A>G (p.Pro881=) n.649A>G | |
2 | g.189008950A>T | CA430406538 | COL3A1 | c.3453A>T (p.Pro1151=) c.3552A>T (p.Pro1184=) c.2643A>T (p.Pro881=) n.649A>T | |
2 | g.189008951G>A | CA349846625 | COL3A1 | c.3454G>A (p.Gly1152Ser) c.3553G>A (p.Gly1185Ser) c.2644G>A (p.Gly882Ser) n.650G>A | |
2 | g.189008951G>C | CA349846626 | COL3A1 | c.3454G>C (p.Gly1152Arg) c.3553G>C (p.Gly1185Arg) c.2644G>C (p.Gly882Arg) n.650G>C | |
2 | g.189008951G>T | CA349846627 | COL3A1 | c.3454G>T (p.Gly1152Cys) c.3553G>T (p.Gly1185Cys) c.2644G>T (p.Gly882Cys) n.650G>T | |
2 | g.189008952G>A | CA006649 | COL3A1 | c.3455G>A (p.Gly1152Asp) c.3554G>A (p.Gly1185Asp) c.2645G>A (p.Gly882Asp) n.651G>A | ClinVar dbSNP |
2 | g.189008952G>C | CA349846628 | COL3A1 | c.3455G>C (p.Gly1152Ala) c.3554G>C (p.Gly1185Ala) c.2645G>C (p.Gly882Ala) n.651G>C | gnomAD v4 |
2 | g.189008952G= | CA1315405490 | COL3A1 | c.3455G= (p.Gly1152=) c.3554G= (p.Gly1185=) c.2645G= (p.Gly882=) n.651G= | |
2 | g.189008952G>T | CA006657 | COL3A1 | c.3455G>T (p.Gly1152Val) c.3554G>T (p.Gly1185Val) c.2645G>T (p.Gly882Val) n.651G>T | ClinVar dbSNP |
2 | g.189008953C>A | CA430406539 | COL3A1 | c.3456C>A (p.Gly1152=) c.3555C>A (p.Gly1185=) c.2646C>A (p.Gly882=) n.652C>A | ClinVar gnomAD v4 |
2 | g.189008953C= | CA1315405491 | COL3A1 | c.3456C= (p.Gly1152=) c.3555C= (p.Gly1185=) c.2646C= (p.Gly882=) n.652C= | |
2 | g.189008953C>G | CA430406540 | COL3A1 | c.3456C>G (p.Gly1152=) c.3555C>G (p.Gly1185=) c.2646C>G (p.Gly882=) n.652C>G | dbSNP |
2 | g.189008953C>T | CA430406541 | COL3A1 | c.3456C>T (p.Gly1152=) c.3555C>T (p.Gly1185=) c.2646C>T (p.Gly882=) n.652C>T | gnomAD v4 |
2 | g.189008954C>A | CA349846629 | COL3A1 | c.3457C>A (p.Pro1153Thr) c.3556C>A (p.Pro1186Thr) c.2647C>A (p.Pro883Thr) n.653C>A | |
2 | g.189008954C>G | CA349846630 | COL3A1 | c.3457C>G (p.Pro1153Ala) c.3556C>G (p.Pro1186Ala) c.2647C>G (p.Pro883Ala) n.653C>G | |
2 | g.189008954C>T | CA349846631 | COL3A1 | c.3457C>T (p.Pro1153Ser) c.3556C>T (p.Pro1186Ser) c.2647C>T (p.Pro883Ser) n.653C>T | gnomAD v4 COSMIC COSMIC |
2 | g.189008955C>A | CA349846632 | COL3A1 | c.3458C>A (p.Pro1153His) c.3557C>A (p.Pro1186His) c.2648C>A (p.Pro883His) n.654C>A | |
2 | g.189008955C>G | CA349846634 | COL3A1 | c.3458C>G (p.Pro1153Arg) c.3557C>G (p.Pro1186Arg) c.2648C>G (p.Pro883Arg) n.654C>G | |
2 | g.189008955C>T | CA349846633 | COL3A1 | c.3458C>T (p.Pro1153Leu) c.3557C>T (p.Pro1186Leu) c.2648C>T (p.Pro883Leu) n.654C>T | |
2 | g.189008956T>A | CA430406542 | COL3A1 | c.3459T>A (p.Pro1153=) c.3558T>A (p.Pro1186=) c.2649T>A (p.Pro883=) n.655T>A | |
2 | g.189008956T>C | CA430406543 | COL3A1 | c.3459T>C (p.Pro1153=) c.3558T>C (p.Pro1186=) c.2649T>C (p.Pro883=) n.655T>C | ClinVar |
2 | g.189008956T>G | CA430406544 | COL3A1 | c.3459T>G (p.Pro1153=) c.3558T>G (p.Pro1186=) c.2649T>G (p.Pro883=) n.655T>G | |
2 | g.189008957C>A | CA349846635 | COL3A1 | c.3460C>A (p.Pro1154Thr) c.3559C>A (p.Pro1187Thr) c.2650C>A (p.Pro884Thr) n.656C>A | |
2 | g.189008957C>G | CA349846637 | COL3A1 | c.3460C>G (p.Pro1154Ala) c.3559C>G (p.Pro1187Ala) c.2650C>G (p.Pro884Ala) n.656C>G | |
2 | g.189008957C>T | CA349846636 | COL3A1 | c.3460C>T (p.Pro1154Ser) c.3559C>T (p.Pro1187Ser) c.2650C>T (p.Pro884Ser) n.656C>T | ClinVar dbSNP |
2 | g.189008958C>A | CA349846638 | COL3A1 | c.3461C>A (p.Pro1154His) c.3560C>A (p.Pro1187His) c.2651C>A (p.Pro884His) n.657C>A | ClinVar |
2 | g.189008958C>G | CA349846640 | COL3A1 | c.3461C>G (p.Pro1154Arg) c.3560C>G (p.Pro1187Arg) c.2651C>G (p.Pro884Arg) n.657C>G | |
2 | g.189008958C>T | CA349846639 | COL3A1 | c.3461C>T (p.Pro1154Leu) c.3560C>T (p.Pro1187Leu) c.2651C>T (p.Pro884Leu) n.657C>T | COSMIC |
2 | g.189008959T>A | CA430406545 | COL3A1 | c.3462T>A (p.Pro1154=) c.3561T>A (p.Pro1187=) c.2652T>A (p.Pro884=) n.658T>A | |
2 | g.189008959T>C | CA430406546 | COL3A1 | c.3462T>C (p.Pro1154=) c.3561T>C (p.Pro1187=) c.2652T>C (p.Pro884=) n.658T>C | |
2 | g.189008959T>G | CA430406547 | COL3A1 | c.3462T>G (p.Pro1154=) c.3561T>G (p.Pro1187=) c.2652T>G (p.Pro884=) n.658T>G | |
2 | g.189008960G>A | CA006665 | COL3A1 | c.3463G>A (p.Gly1155Arg) c.3562G>A (p.Gly1188Arg) c.2653G>A (p.Gly885Arg) n.659G>A | ClinVar dbSNP |
2 | g.189008960G>C | CA349846641 | COL3A1 | c.3463G>C (p.Gly1155Arg) c.3562G>C (p.Gly1188Arg) c.2653G>C (p.Gly885Arg) n.659G>C | |
2 | g.189008960G= | CA1315405492 | COL3A1 | c.3463G= (p.Gly1155=) c.3562G= (p.Gly1188=) c.2653G= (p.Gly885=) n.659G= | |
2 | g.189008960G>T | CA349846642 | COL3A1 | c.3463G>T (p.Gly1155Ter) c.3562G>T (p.Gly1188Ter) c.2653G>T (p.Gly885Ter) n.659G>T | |
2 | g.189008961G>A | CA006671 | COL3A1 | c.3464G>A (p.Gly1155Glu) c.3563G>A (p.Gly1188Glu) c.2654G>A (p.Gly885Glu) n.660G>A | ClinVar dbSNP |
2 | g.189008961G>C | CA349846643 | COL3A1 | c.3464G>C (p.Gly1155Ala) c.3563G>C (p.Gly1188Ala) c.2654G>C (p.Gly885Ala) n.660G>C | |
2 | g.189008961G= | CA1315405493 | COL3A1 | c.3464G= (p.Gly1155=) c.3563G= (p.Gly1188=) c.2654G= (p.Gly885=) n.660G= | |
2 | g.189008961G>T | CA349846644 | COL3A1 | c.3464G>T (p.Gly1155Val) c.3563G>T (p.Gly1188Val) c.2654G>T (p.Gly885Val) n.660G>T | |
2 | g.189008962A>C | CA430406548 | COL3A1 | c.3465A>C (p.Gly1155=) c.3564A>C (p.Gly1188=) c.2655A>C (p.Gly885=) n.661A>C | gnomAD v4 |
2 | g.189008962A>G | CA430406549 | COL3A1 | c.3465A>G (p.Gly1155=) c.3564A>G (p.Gly1188=) c.2655A>G (p.Gly885=) n.661A>G | |
2 | g.189008962A>T | CA430406550 | COL3A1 | c.3465A>T (p.Gly1155=) c.3564A>T (p.Gly1188=) c.2655A>T (p.Gly885=) n.661A>T | |
2 | g.189008963C>A | CA349846645 | COL3A1 | c.3466C>A (p.Pro1156Thr) c.3565C>A (p.Pro1189Thr) c.2656C>A (p.Pro886Thr) n.662C>A | |
2 | g.189008963C= | CA1315405494 | COL3A1 | c.3466C= (p.Pro1156=) c.3565C= (p.Pro1189=) c.2656C= (p.Pro886=) n.662C= | |
2 | g.189008963C>G | CA349846646 | COL3A1 | c.3466C>G (p.Pro1156Ala) c.3565C>G (p.Pro1189Ala) c.2656C>G (p.Pro886Ala) n.662C>G | ClinVar |
2 | g.189008963C>T | CA349846647 | COL3A1 | c.3466C>T (p.Pro1156Ser) c.3565C>T (p.Pro1189Ser) c.2656C>T (p.Pro886Ser) n.662C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189008964C>A | CA349846648 | COL3A1 | c.3467C>A (p.Pro1156His) c.3566C>A (p.Pro1189His) c.2657C>A (p.Pro886His) n.663C>A | gnomAD v4 |
2 | g.189008964C= | CA1315405495 | COL3A1 | c.3467C= (p.Pro1156=) c.3566C= (p.Pro1189=) c.2657C= (p.Pro886=) n.663C= | |
2 | g.189008964C>G | CA349846649 | COL3A1 | c.3467C>G (p.Pro1156Arg) c.3566C>G (p.Pro1189Arg) c.2657C>G (p.Pro886Arg) n.663C>G | |
2 | g.189008964C>T | CA076189 | COL3A1 | c.3467C>T (p.Pro1156Leu) c.3566C>T (p.Pro1189Leu) c.2657C>T (p.Pro886Leu) n.663C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008965T>A | CA430406551 | COL3A1 | c.3468T>A (p.Pro1156=) c.3567T>A (p.Pro1189=) c.2658T>A (p.Pro886=) n.664T>A | |
2 | g.189008965T>C | CA430406552 | COL3A1 | c.3468T>C (p.Pro1156=) c.3567T>C (p.Pro1189=) c.2658T>C (p.Pro886=) n.664T>C | |
2 | g.189008965T>G | CA430406553 | COL3A1 | c.3468T>G (p.Pro1156=) c.3567T>G (p.Pro1189=) c.2658T>G (p.Pro886=) n.664T>G | |
2 | g.189008966C>A | CA349846650 | COL3A1 | c.3469C>A (p.Pro1157Thr) c.3568C>A (p.Pro1190Thr) c.2659C>A (p.Pro887Thr) n.665C>A | |
2 | g.189008966C>G | CA349846652 | COL3A1 | c.3469C>G (p.Pro1157Ala) c.3568C>G (p.Pro1190Ala) c.2659C>G (p.Pro887Ala) n.665C>G | |
2 | g.189008966C>T | CA349846651 | COL3A1 | c.3469C>T (p.Pro1157Ser) c.3568C>T (p.Pro1190Ser) c.2659C>T (p.Pro887Ser) n.665C>T | gnomAD v4 COSMIC COSMIC |
2 | g.189008972_189008980del | CA2573051822 | COL3A1 | c.3475_3483del (p.Ala1159_Gly1161del) c.3574_3582del (p.Ala1192_Gly1194del) c.2665_2673del (p.Ala889_Gly891del) n.671_679del | ClinVar dbSNP gnomAD v4 |
2 | g.189008967C>A | CA349846653 | COL3A1 | c.3470C>A (p.Pro1157His) c.3569C>A (p.Pro1190His) c.2660C>A (p.Pro887His) n.666C>A | |
2 | g.189008967C= | CA1315405496 | COL3A1 | c.3470C= (p.Pro1157=) c.3569C= (p.Pro1190=) c.2660C= (p.Pro887=) n.666C= | |
2 | g.189008967C>G | CA349846654 | COL3A1 | c.3470C>G (p.Pro1157Arg) c.3569C>G (p.Pro1190Arg) c.2660C>G (p.Pro887Arg) n.666C>G | dbSNP |
2 | g.189008967C>T | CA349846655 | COL3A1 | c.3470C>T (p.Pro1157Leu) c.3569C>T (p.Pro1190Leu) c.2660C>T (p.Pro887Leu) n.666C>T | |
2 | g.189008968T>A | CA430406554 | COL3A1 | c.3471T>A (p.Pro1157=) c.3570T>A (p.Pro1190=) c.2661T>A (p.Pro887=) n.667T>A | ClinVar dbSNP gnomAD v4 |
2 | g.189008968T>C | CA430406555 | COL3A1 | c.3471T>C (p.Pro1157=) c.3570T>C (p.Pro1190=) c.2661T>C (p.Pro887=) n.667T>C | ClinVar dbSNP gnomAD v4 |
2 | g.189008968T>G | CA430406556 | COL3A1 | c.3471T>G (p.Pro1157=) c.3570T>G (p.Pro1190=) c.2661T>G (p.Pro887=) n.667T>G | |
2 | g.189008968T= | CA1315405497 | COL3A1 | c.3471T= (p.Pro1157=) c.3570T= (p.Pro1190=) c.2661T= (p.Pro887=) n.667T= | |
2 | g.189008969G>A | CA349846656 | COL3A1 | c.3472G>A (p.Gly1158Ser) c.3571G>A (p.Gly1191Ser) c.2662G>A (p.Gly888Ser) n.668G>A | |
2 | g.189008969G>C | CA349846657 | COL3A1 | c.3472G>C (p.Gly1158Arg) c.3571G>C (p.Gly1191Arg) c.2662G>C (p.Gly888Arg) n.668G>C | |
2 | g.189008969G>T | CA349846658 | COL3A1 | c.3472G>T (p.Gly1158Cys) c.3571G>T (p.Gly1191Cys) c.2662G>T (p.Gly888Cys) n.668G>T | |
2 | g.189008970G>A | CA006679 | COL3A1 | c.3473G>A (p.Gly1158Asp) c.3572G>A (p.Gly1191Asp) c.2663G>A (p.Gly888Asp) n.669G>A | ClinVar dbSNP |
2 | g.189008970G>C | CA349846659 | COL3A1 | c.3473G>C (p.Gly1158Ala) c.3572G>C (p.Gly1191Ala) c.2663G>C (p.Gly888Ala) n.669G>C | |
2 | g.189008970G= | CA1315405498 | COL3A1 | c.3473G= (p.Gly1158=) c.3572G= (p.Gly1191=) c.2663G= (p.Gly888=) n.669G= | |
2 | g.189008970G>T | CA349846660 | COL3A1 | c.3473G>T (p.Gly1158Val) c.3572G>T (p.Gly1191Val) c.2663G>T (p.Gly888Val) n.669G>T | |
2 | g.189008970_189008971insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA | CA2753584204 | COL3A1 | c.3473_3474insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1159ProfsTer?) c.3572_3573insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala1192ProfsTer?) c.2663_2664insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA (p.Ala889ProfsTer?) n.669_670insACCTCCAGGCGAACCTGGTAAGGATGGCGTTGACGGAATAAATGGTGAACAAGGGTTACAGGGTA | |
2 | g.189008971T>A | CA430406557 | COL3A1 | c.3474T>A (p.Gly1158=) c.3573T>A (p.Gly1191=) c.2664T>A (p.Gly888=) n.670T>A | |
2 | g.189008971T>C | CA430406558 | COL3A1 | c.3474T>C (p.Gly1158=) c.3573T>C (p.Gly1191=) c.2664T>C (p.Gly888=) n.670T>C | |
2 | g.189008971T>G | CA430406559 | COL3A1 | c.3474T>G (p.Gly1158=) c.3573T>G (p.Gly1191=) c.2664T>G (p.Gly888=) n.670T>G | |
2 | g.189008972G>A | CA076192 | COL3A1 | c.3475G>A (p.Ala1159Thr) c.3574G>A (p.Ala1192Thr) c.2665G>A (p.Ala889Thr) n.671G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008972G>C | CA349846662 | COL3A1 | c.3475G>C (p.Ala1159Pro) c.3574G>C (p.Ala1192Pro) c.2665G>C (p.Ala889Pro) n.671G>C | |
2 | g.189008972G= | CA1315405499 | COL3A1 | c.3475G= (p.Ala1159=) c.3574G= (p.Ala1192=) c.2665G= (p.Ala889=) n.671G= | |
2 | g.189008972G>T | CA349846661 | COL3A1 | c.3475G>T (p.Ala1159Ser) c.3574G>T (p.Ala1192Ser) c.2665G>T (p.Ala889Ser) n.671G>T | |
2 | g.189008972_189008973insTT | CA2517476648 | COL3A1 | c.3475_3476insTT (p.Ala1159ValfsTer?) c.3574_3575insTT (p.Ala1192ValfsTer?) c.2665_2666insTT (p.Ala889ValfsTer?) n.671_672insTT | |
2 | g.189008973C>A | CA349846663 | COL3A1 | c.3476C>A (p.Ala1159Asp) c.3575C>A (p.Ala1192Asp) c.2666C>A (p.Ala889Asp) n.672C>A | gnomAD v4 |
2 | g.189008973C= | CA1315405500 | COL3A1 | c.3476C= (p.Ala1159=) c.3575C= (p.Ala1192=) c.2666C= (p.Ala889=) n.672C= | |
2 | g.189008973C>G | CA349846664 | COL3A1 | c.3476C>G (p.Ala1159Gly) c.3575C>G (p.Ala1192Gly) c.2666C>G (p.Ala889Gly) n.672C>G | |
2 | g.189008973C>T | CA349846665 | COL3A1 | c.3476C>T (p.Ala1159Val) c.3575C>T (p.Ala1192Val) c.2666C>T (p.Ala889Val) n.672C>T | ClinVar gnomAD v4 |
2 | g.189008973_189008974insAGGG | CA006688 | COL3A1 | c.3476_3477insAGGG (p.Pro1160GlyfsTer20) c.3575_3576insAGGG (p.Pro1193GlyfsTer20) c.2666_2667insAGGG (p.Pro890GlyfsTer20) n.672_673insAGGG | ClinVar dbSNP |
2 | g.189008974C>A | CA430406560 | COL3A1 | c.3477C>A (p.Ala1159=) c.3576C>A (p.Ala1192=) c.2667C>A (p.Ala889=) n.673C>A | |
2 | g.189008974C= | CA1315405501 | COL3A1 | c.3477C= (p.Ala1159=) c.3576C= (p.Ala1192=) c.2667C= (p.Ala889=) n.673C= | |
2 | g.189008974C>G | CA430406561 | COL3A1 | c.3477C>G (p.Ala1159=) c.3576C>G (p.Ala1192=) c.2667C>G (p.Ala889=) n.673C>G | ClinVar dbSNP |
2 | g.189008974C>T | CA076194 | COL3A1 | c.3477C>T (p.Ala1159=) c.3576C>T (p.Ala1192=) c.2667C>T (p.Ala889=) n.673C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189008974_189008975insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA | CA2503472779 | COL3A1 | c.3477_3478insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1160TrpfsTer2) c.3576_3577insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro1193TrpfsTer2) c.2667_2668insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA (p.Pro890TrpfsTer2) n.673_674insTGGTAGAGATGGAGTTAACGGTCTTAAAGGTGAA | |
2 | g.189008975C>A | CA349846668 | COL3A1 | c.3478C>A (p.Pro1160Thr) c.3577C>A (p.Pro1193Thr) c.2668C>A (p.Pro890Thr) n.674C>A | COSMIC COSMIC |
2 | g.189008975C= | CA1315405502 | COL3A1 | c.3478C= (p.Pro1160=) c.3577C= (p.Pro1193=) c.2668C= (p.Pro890=) n.674C= | |
2 | g.189008975C>G | CA349846667 | COL3A1 | c.3478C>G (p.Pro1160Ala) c.3577C>G (p.Pro1193Ala) c.2668C>G (p.Pro890Ala) n.674C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189008975C>T | CA349846666 | COL3A1 | c.3478C>T (p.Pro1160Ser) c.3577C>T (p.Pro1193Ser) c.2668C>T (p.Pro890Ser) n.674C>T | ClinVar dbSNP |
2 | g.189008976C>A | CA349846669 | COL3A1 | c.3479C>A (p.Pro1160His) c.3578C>A (p.Pro1193His) c.2669C>A (p.Pro890His) n.675C>A | |
2 | g.189008976C>G | CA349846670 | COL3A1 | c.3479C>G (p.Pro1160Arg) c.3578C>G (p.Pro1193Arg) c.2669C>G (p.Pro890Arg) n.675C>G | |
2 | g.189008976C>T | CA349846671 | COL3A1 | c.3479C>T (p.Pro1160Leu) c.3578C>T (p.Pro1193Leu) c.2669C>T (p.Pro890Leu) n.675C>T | |
2 | g.189008977T>A | CA430406562 | COL3A1 | c.3480T>A (p.Pro1160=) c.3579T>A (p.Pro1193=) c.2670T>A (p.Pro890=) n.676T>A | |
2 | g.189008977T>C | CA430406563 | COL3A1 | c.3480T>C (p.Pro1160=) c.3579T>C (p.Pro1193=) c.2670T>C (p.Pro890=) n.676T>C | |
2 | g.189008977T>G | CA430406564 | COL3A1 | c.3480T>G (p.Pro1160=) c.3579T>G (p.Pro1193=) c.2670T>G (p.Pro890=) n.676T>G |