Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188999894_189002903del | CA2740096382 | COL3A1 | c.2183_2347-52del c.2282_2446-52del | ClinVar |
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.189002900C>A | CA2577185751 | COL3A1 | c.2347-55C>A (n.2347-55C>A) c.2446-55C>A (n.2446-55C>A) | gnomAD v4 |
2 | g.189002900C>G | CA2662309671 | COL3A1 | c.2347-55C>G (n.2347-55C>G) c.2446-55C>G (n.2446-55C>G) | gnomAD v4 |
2 | g.189002901C>A | CA2662309672 | COL3A1 | c.2347-54C>A (n.2347-54C>A) c.2446-54C>A (n.2446-54C>A) | gnomAD v4 |
2 | g.189002903A>G | CA077655 | COL3A1 | c.2347-52A>G (n.2347-52A>G) c.2446-52A>G (n.2446-52A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002904T>A | CA2662309673 | COL3A1 | c.2347-51T>A (n.2347-51T>A) c.2446-51T>A (n.2446-51T>A) | gnomAD v4 |
2 | g.189002904T>C | CA2662309674 | COL3A1 | c.2347-51T>C (n.2347-51T>C) c.2446-51T>C (n.2446-51T>C) | gnomAD v4 |
2 | g.189002904T>G | CA2662309675 | COL3A1 | c.2347-51T>G (n.2347-51T>G) c.2446-51T>G (n.2446-51T>G) | dbSNP gnomAD v4 |
2 | g.189002906G>A | CA62556274 | COL3A1 | c.2347-49G>A (n.2347-49G>A) c.2446-49G>A (n.2446-49G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002906G= | CA1315402480 | COL3A1 | c.2347-49G= (n.2347-49G=) c.2446-49G= (n.2446-49G=) | |
2 | g.189002906G>T | CA647397800 | COL3A1 | c.2347-49G>T (n.2347-49G>T) c.2446-49G>T (n.2446-49G>T) | COSMIC |
2 | g.189002907T>C | CA2701315380 | COL3A1 | c.2347-48T>C (n.2347-48T>C) c.2446-48T>C (n.2446-48T>C) | dbSNP |
2 | g.189002908A= | CA1315402481 | COL3A1 | c.2347-47A= (n.2347-47A=) c.2446-47A= (n.2446-47A=) | |
2 | g.189002908A>G | CA1040411030 | COL3A1 | c.2347-47A>G (n.2347-47A>G) c.2446-47A>G (n.2446-47A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002909T>C | CA62556276 | COL3A1 | c.2347-46T>C (n.2347-46T>C) c.2446-46T>C (n.2446-46T>C) | dbSNP |
2 | g.189002909T= | CA1315402482 | COL3A1 | c.2347-46T= (n.2347-46T=) c.2446-46T= (n.2446-46T=) | |
2 | g.189002910C>A | CA2662309676 | COL3A1 | c.2347-45C>A (n.2347-45C>A) c.2446-45C>A (n.2446-45C>A) | gnomAD v4 |
2 | g.189002910C>T | CA2577185752 | COL3A1 | c.2347-45C>T (n.2347-45C>T) c.2446-45C>T (n.2446-45C>T) | gnomAD v4 |
2 | g.189002911A= | CA1315402483 | COL3A1 | c.2347-44A= (n.2347-44A=) c.2446-44A= (n.2446-44A=) | |
2 | g.189002911A>C | CA2662309677 | COL3A1 | c.2347-44A>C (n.2347-44A>C) c.2446-44A>C (n.2446-44A>C) | gnomAD v4 |
2 | g.189002911A>T | CA62556279 | COL3A1 | c.2347-44A>T (n.2347-44A>T) c.2446-44A>T (n.2446-44A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002912T>C | CA2662309678 | COL3A1 | c.2347-43T>C (n.2347-43T>C) c.2446-43T>C (n.2446-43T>C) | gnomAD v4 |
2 | g.189002912T>G | CA2577185753 | COL3A1 | c.2347-43T>G (n.2347-43T>G) c.2446-43T>G (n.2446-43T>G) | |
2 | g.189002913A= | CA1315402484 | COL3A1 | c.2347-42A= (n.2347-42A=) c.2446-42A= (n.2446-42A=) | |
2 | g.189002913A>G | CA62556285 | COL3A1 | c.2347-42A>G (n.2347-42A>G) c.2446-42A>G (n.2446-42A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002916G>A | CA1315402486 | COL3A1 | c.2347-39G>A (n.2347-39G>A) c.2446-39G>A (n.2446-39G>A) | dbSNP gnomAD v4 |
2 | g.189002916G>C | CA2701067453 | COL3A1 | c.2347-39G>C (n.2347-39G>C) c.2446-39G>C (n.2446-39G>C) | dbSNP |
2 | g.189002916G= | CA1315402485 | COL3A1 | c.2347-39G= (n.2347-39G=) c.2446-39G= (n.2446-39G=) | |
2 | g.189002916G>T | CA2662309679 | COL3A1 | c.2347-39G>T (n.2347-39G>T) c.2446-39G>T (n.2446-39G>T) | gnomAD v4 |
2 | g.189002917A= | CA1315402487 | COL3A1 | c.2347-38A= (n.2347-38A=) c.2446-38A= (n.2446-38A=) | |
2 | g.189002917A>C | CA1040411037 | COL3A1 | c.2347-38A>C (n.2347-38A>C) c.2446-38A>C (n.2446-38A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002917A>G | CA075355 | COL3A1 | c.2347-38A>G (n.2347-38A>G) c.2446-38A>G (n.2446-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002918G>A | CA62556291 | COL3A1 | c.2347-37G>A (n.2347-37G>A) c.2446-37G>A (n.2446-37G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002918G= | CA1315402488 | COL3A1 | c.2347-37G= (n.2347-37G=) c.2446-37G= (n.2446-37G=) | |
2 | g.189002918G>T | CA2662309680 | COL3A1 | c.2347-37G>T (n.2347-37G>T) c.2446-37G>T (n.2446-37G>T) | gnomAD v4 |
2 | g.189002920G>A | CA1040411040 | COL3A1 | c.2347-35G>A (n.2347-35G>A) c.2446-35G>A (n.2446-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002920G= | CA1315402489 | COL3A1 | c.2347-35G= (n.2347-35G=) c.2446-35G= (n.2446-35G=) | |
2 | g.189002922C>A | CA2662309681 | COL3A1 | c.2347-33C>A (n.2347-33C>A) c.2446-33C>A (n.2446-33C>A) | gnomAD v4 |
2 | g.189002922C>T | CA2561379091 | COL3A1 | c.2347-33C>T (n.2347-33C>T) c.2446-33C>T (n.2446-33C>T) | gnomAD v4 |
2 | g.189002923A= | CA1315402490 | COL3A1 | c.2347-32A= (n.2347-32A=) c.2446-32A= (n.2446-32A=) | |
2 | g.189002923A>C | CA62556296 | COL3A1 | c.2347-32A>C (n.2347-32A>C) c.2446-32A>C (n.2446-32A>C) | dbSNP gnomAD v4 |
2 | g.189002924G>A | CA1315402492 | COL3A1 | c.2347-31G>A (n.2347-31G>A) c.2446-31G>A (n.2446-31G>A) | dbSNP gnomAD v4 |
2 | g.189002924G= | CA1315402491 | COL3A1 | c.2347-31G= (n.2347-31G=) c.2446-31G= (n.2446-31G=) | |
2 | g.189002925C>A | CA2577185754 | COL3A1 | c.2347-30C>A (n.2347-30C>A) c.2446-30C>A (n.2446-30C>A) | gnomAD v4 |
2 | g.189002926T>C | CA1040411042 | COL3A1 | c.2347-29T>C (n.2347-29T>C) c.2446-29T>C (n.2446-29T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002926T= | CA1315402493 | COL3A1 | c.2347-29T= (n.2347-29T=) c.2446-29T= (n.2446-29T=) | |
2 | g.189002927G>T | CA2662309682 | COL3A1 | c.2347-28G>T (n.2347-28G>T) c.2446-28G>T (n.2446-28G>T) | gnomAD v4 |
2 | g.189002931_189002932del | CA1040411049 | COL3A1 | c.2347-24_2347-23del (n.2347-24_2347-23del) c.2446-24_2446-23del (n.2446-24_2446-23del) | gnomAD v3 gnomAD v4 |
2 | g.189002928A>C | CA2662309683 | COL3A1 | c.2347-27A>C (n.2347-27A>C) c.2446-27A>C (n.2446-27A>C) | gnomAD v4 |
2 | g.189002929G>T | CA2662309684 | COL3A1 | c.2347-26G>T (n.2347-26G>T) c.2446-26G>T (n.2446-26G>T) | gnomAD v4 |
2 | g.189002930A= | CA1315402494 | COL3A1 | c.2347-25A= (n.2347-25A=) c.2446-25A= (n.2446-25A=) | |
2 | g.189002930A>G | CA538448851 | COL3A1 | c.2347-25A>G (n.2347-25A>G) c.2446-25A>G (n.2446-25A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002931G>A | CA2662309685 | COL3A1 | c.2347-24G>A (n.2347-24G>A) c.2446-24G>A (n.2446-24G>A) | gnomAD v4 |
2 | g.189002931G>T | CA2662309686 | COL3A1 | c.2347-24G>T (n.2347-24G>T) c.2446-24G>T (n.2446-24G>T) | gnomAD v4 |
2 | g.189002932A>C | CA2701315484 | COL3A1 | c.2347-23A>C (n.2347-23A>C) c.2446-23A>C (n.2446-23A>C) | dbSNP |
2 | g.189002933T>C | CA075353 | COL3A1 | c.2347-22T>C (n.2347-22T>C) c.2446-22T>C (n.2446-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002933T= | CA1315402495 | COL3A1 | c.2347-22T= (n.2347-22T=) c.2446-22T= (n.2446-22T=) | |
2 | g.189002935G>A | CA2577185755 | COL3A1 | c.2347-20G>A (n.2347-20G>A) c.2446-20G>A (n.2446-20G>A) | |
2 | g.189002935G>T | CA2662309687 | COL3A1 | c.2347-20G>T (n.2347-20G>T) c.2446-20G>T (n.2446-20G>T) | gnomAD v4 |
2 | g.189002936C>A | CA2662309688 | COL3A1 | c.2347-19C>A (n.2347-19C>A) c.2446-19C>A (n.2446-19C>A) | gnomAD v4 |
2 | g.189002936C>T | CA2577185756 | COL3A1 | c.2347-19C>T (n.2347-19C>T) c.2446-19C>T (n.2446-19C>T) | |
2 | g.189002936_189002939delinsCTGT | CA1315402496 | COL3A1 | c.2347-19_2347-16delinsCTGT (n.2347-19_2347-16delinsCTGT) c.2446-19_2446-16delinsCTGT (n.2446-19_2446-16delinsCTGT) | |
2 | g.189002937T>G | CA2662309689 | COL3A1 | c.2347-18T>G (n.2347-18T>G) c.2446-18T>G (n.2446-18T>G) | gnomAD v4 |
2 | g.189002945_189002947del | CA62556306 | COL3A1 | c.2347-10_2347-8del (n.2347-10_2347-8del) c.2446-10_2446-8del (n.2446-10_2446-8del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002938G>A | CA2662309690 | COL3A1 | c.2347-17G>A (n.2347-17G>A) c.2446-17G>A (n.2446-17G>A) | gnomAD v4 |
2 | g.189002938G>T | CA2662309691 | COL3A1 | c.2347-17G>T (n.2347-17G>T) c.2446-17G>T (n.2446-17G>T) | gnomAD v4 |
2 | g.189002939T>A | CA2547290452 | COL3A1 | c.2347-16T>A (n.2347-16T>A) c.2446-16T>A (n.2446-16T>A) | |
2 | g.189002939T>C | CA2577185757 | COL3A1 | c.2347-16T>C (n.2347-16T>C) c.2446-16T>C (n.2446-16T>C) | |
2 | g.189002940T>A | CA2739277970 | COL3A1 | c.2347-15T>A (n.2347-15T>A) c.2446-15T>A (n.2446-15T>A) | ClinVar |
2 | g.189002940T>G | CA1315402498 | COL3A1 | c.2347-15T>G (n.2347-15T>G) c.2446-15T>G (n.2446-15T>G) | dbSNP |
2 | g.189002940T= | CA1315402497 | COL3A1 | c.2347-15T= (n.2347-15T=) c.2446-15T= (n.2446-15T=) | |
2 | g.189002941G>A | CA1315402500 | COL3A1 | c.2347-14G>A (n.2347-14G>A) c.2446-14G>A (n.2446-14G>A) | dbSNP gnomAD v4 |
2 | g.189002941G>C | CA2662309692 | COL3A1 | c.2347-14G>C (n.2347-14G>C) c.2446-14G>C (n.2446-14G>C) | gnomAD v4 |
2 | g.189002941G= | CA1315402499 | COL3A1 | c.2347-14G= (n.2347-14G=) c.2446-14G= (n.2446-14G=) | |
2 | g.189002942T>C | CA075350 | COL3A1 | c.2347-13T>C (n.2347-13T>C) c.2446-13T>C (n.2446-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189002942T= | CA1315402501 | COL3A1 | c.2347-13T= (n.2347-13T=) c.2446-13T= (n.2446-13T=) | |
2 | g.189002943T>C | CA62556307 | COL3A1 | c.2347-12T>C (n.2347-12T>C) c.2446-12T>C (n.2446-12T>C) | ClinVar dbSNP |
2 | g.189002943T= | CA1315402502 | COL3A1 | c.2347-12T= (n.2347-12T=) c.2446-12T= (n.2446-12T=) | |
2 | g.189002944G>A | CA2662309693 | COL3A1 | c.2347-11G>A (n.2347-11G>A) c.2446-11G>A (n.2446-11G>A) | gnomAD v4 |
2 | g.189002944G>T | CA2662309694 | COL3A1 | c.2347-11G>T (n.2347-11G>T) c.2446-11G>T (n.2446-11G>T) | dbSNP gnomAD v4 |
2 | g.189002945T>A | CA1315402504 | COL3A1 | c.2347-10T>A (n.2347-10T>A) c.2446-10T>A (n.2446-10T>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189002945T>C | CA16610551 | COL3A1 | c.2347-10T>C (n.2347-10T>C) c.2446-10T>C (n.2446-10T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002945T= | CA1315402503 | COL3A1 | c.2347-10T= (n.2347-10T=) c.2446-10T= (n.2446-10T=) | |
2 | g.189002947G>A | CA2662309695 | COL3A1 | c.2347-8G>A (n.2347-8G>A) c.2446-8G>A (n.2446-8G>A) | gnomAD v4 |
2 | g.189002947G>C | CA762202954 | COL3A1 | c.2347-8G>C (n.2347-8G>C) c.2446-8G>C (n.2446-8G>C) | dbSNP |
2 | g.189002947G= | CA1315402505 | COL3A1 | c.2347-8G= (n.2347-8G=) c.2446-8G= (n.2446-8G=) | |
2 | g.189002947G>T | CA2662309696 | COL3A1 | c.2347-8G>T (n.2347-8G>T) c.2446-8G>T (n.2446-8G>T) | gnomAD v4 |
2 | g.189002948C>A | CA2662309697 | COL3A1 | c.2347-7C>A (n.2347-7C>A) c.2446-7C>A (n.2446-7C>A) | gnomAD v4 |
2 | g.189002948C>T | CA2662309698 | COL3A1 | c.2347-7C>T (n.2347-7C>T) c.2446-7C>T (n.2446-7C>T) | gnomAD v4 |
2 | g.189002949A= | CA1315402506 | COL3A1 | c.2347-6A= (n.2347-6A=) c.2446-6A= (n.2446-6A=) | |
2 | g.189002949A>G | CA538448852 | COL3A1 | c.2347-6A>G (n.2347-6A>G) c.2446-6A>G (n.2446-6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002950T>A | CA538448853 | COL3A1 | c.2347-5T>A (n.2347-5T>A) c.2446-5T>A (n.2446-5T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002950T>C | CA1315402507 | COL3A1 | c.2347-5T>C (n.2347-5T>C) c.2446-5T>C (n.2446-5T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002950T= | CA1315402508 | COL3A1 | c.2347-5T= (n.2347-5T=) c.2446-5T= (n.2446-5T=) | |
2 | g.189002951G>A | CA538448854 | COL3A1 | c.2347-4G>A (n.2347-4G>A) c.2446-4G>A (n.2446-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002951G= | CA1315402509 | COL3A1 | c.2347-4G= (n.2347-4G=) c.2446-4G= (n.2446-4G=) | |
2 | g.189002952T>A | CA2662309699 | COL3A1 | c.2347-3T>A (n.2347-3T>A) c.2446-3T>A (n.2446-3T>A) | gnomAD v4 |
2 | g.189002952T>C | CA762202964 | COL3A1 | c.2347-3T>C (n.2347-3T>C) c.2446-3T>C (n.2446-3T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002952T= | CA1315402510 | COL3A1 | c.2347-3T= (n.2347-3T=) c.2446-3T= (n.2446-3T=) | |
2 | g.189002953A= | CA1315402511 | COL3A1 | c.2347-2A= (n.2347-2A=) c.2446-2A= (n.2446-2A=) | |
2 | g.189002953A>C | CA349842687 | COL3A1 | c.2347-2A>C (n.2347-2A>C) c.2446-2A>C (n.2446-2A>C) | |
2 | g.189002953A>G | CA349842688 | COL3A1 | c.2347-2A>G (n.2347-2A>G) c.2446-2A>G (n.2446-2A>G) | dbSNP gnomAD v2 |
2 | g.189002953A>T | CA349842689 | COL3A1 | c.2347-2A>T (n.2347-2A>T) c.2446-2A>T (n.2446-2A>T) | |
2 | g.189002954G>A | CA349842690 | COL3A1 | c.2347-1G>A (n.2347-1G>A) c.2446-1G>A (n.2446-1G>A) | |
2 | g.189002954G>C | CA349842691 | COL3A1 | c.2347-1G>C (n.2347-1G>C) c.2446-1G>C (n.2446-1G>C) | |
2 | g.189002954G>T | CA349842692 | COL3A1 | c.2347-1G>T (n.2347-1G>T) c.2446-1G>T (n.2446-1G>T) | gnomAD v4 |
2 | g.189002955G>A | CA349842695 | COL3A1 | c.2347G>A (p.Gly783Arg) c.2446G>A (p.Gly816Arg) | |
2 | g.189002955G>C | CA349842693 | COL3A1 | c.2347G>C (p.Gly783Arg) c.2446G>C (p.Gly816Arg) | |
2 | g.189002955G>T | CA349842694 | COL3A1 | c.2347G>T (p.Gly783Ter) c.2446G>T (p.Gly816Ter) | |
2 | g.189002956G>A | CA349842696 | COL3A1 | c.2348G>A (p.Gly783Glu) c.2447G>A (p.Gly816Glu) | |
2 | g.189002956G>C | CA349842697 | COL3A1 | c.2348G>C (p.Gly783Ala) c.2447G>C (p.Gly816Ala) | |
2 | g.189002956G>T | CA349842698 | COL3A1 | c.2348G>T (p.Gly783Val) c.2447G>T (p.Gly816Val) | gnomAD v4 |
2 | g.189002957A>C | CA430311305 | COL3A1 | c.2349A>C (p.Gly783=) c.2448A>C (p.Gly816=) | |
2 | g.189002957A>G | CA430311303 | COL3A1 | c.2349A>G (p.Gly783=) c.2448A>G (p.Gly816=) | |
2 | g.189002957A>T | CA430311304 | COL3A1 | c.2349A>T (p.Gly783=) c.2448A>T (p.Gly816=) | |
2 | g.189002958C>A | CA349842699 | COL3A1 | c.2350C>A (p.Gln784Lys) c.2449C>A (p.Gln817Lys) | gnomAD v4 |
2 | g.189002958C>G | CA349842700 | COL3A1 | c.2350C>G (p.Gln784Glu) c.2449C>G (p.Gln817Glu) | gnomAD v4 |
2 | g.189002958C>T | CA349842701 | COL3A1 | c.2350C>T (p.Gln784Ter) c.2449C>T (p.Gln817Ter) | gnomAD v4 |
2 | g.189002959A>C | CA349842702 | COL3A1 | c.2351A>C (p.Gln784Pro) c.2450A>C (p.Gln817Pro) | |
2 | g.189002959A>G | CA349842703 | COL3A1 | c.2351A>G (p.Gln784Arg) c.2450A>G (p.Gln817Arg) | |
2 | g.189002959A>T | CA349842704 | COL3A1 | c.2351A>T (p.Gln784Leu) c.2450A>T (p.Gln817Leu) | |
2 | g.189002960G>A | CA430311306 | COL3A1 | c.2352G>A (p.Gln784=) c.2451G>A (p.Gln817=) | gnomAD v4 COSMIC COSMIC |
2 | g.189002960G>C | CA349842705 | COL3A1 | c.2352G>C (p.Gln784His) c.2451G>C (p.Gln817His) | |
2 | g.189002960G>T | CA349842706 | COL3A1 | c.2352G>T (p.Gln784His) c.2451G>T (p.Gln817His) | gnomAD v4 |
2 | g.189002961A>C | CA349842709 | COL3A1 | c.2353A>C (p.Asn785His) c.2452A>C (p.Asn818His) | |
2 | g.189002961A>G | CA349842708 | COL3A1 | c.2353A>G (p.Asn785Asp) c.2452A>G (p.Asn818Asp) | |
2 | g.189002961A>T | CA349842707 | COL3A1 | c.2353A>T (p.Asn785Tyr) c.2452A>T (p.Asn818Tyr) | |
2 | g.189002962A>C | CA349842710 | COL3A1 | c.2354A>C (p.Asn785Thr) c.2453A>C (p.Asn818Thr) | gnomAD v4 |
2 | g.189002962A>G | CA349842711 | COL3A1 | c.2354A>G (p.Asn785Ser) c.2453A>G (p.Asn818Ser) | gnomAD v4 |
2 | g.189002962A>T | CA349842712 | COL3A1 | c.2354A>T (p.Asn785Ile) c.2453A>T (p.Asn818Ile) | |
2 | g.189002963T>A | CA349842713 | COL3A1 | c.2355T>A (p.Asn785Lys) c.2454T>A (p.Asn818Lys) | |
2 | g.189002963T>C | CA430311308 | COL3A1 | c.2355T>C (p.Asn785=) c.2454T>C (p.Asn818=) | |
2 | g.189002963T>G | CA349842714 | COL3A1 | c.2355T>G (p.Asn785Lys) c.2454T>G (p.Asn818Lys) | |
2 | g.189002964G>A | CA349842717 | COL3A1 | c.2356G>A (p.Gly786Ser) c.2455G>A (p.Gly819Ser) | |
2 | g.189002964G>C | CA349842716 | COL3A1 | c.2356G>C (p.Gly786Arg) c.2455G>C (p.Gly819Arg) | |
2 | g.189002964G>T | CA349842715 | COL3A1 | c.2356G>T (p.Gly786Cys) c.2455G>T (p.Gly819Cys) | gnomAD v4 |
2 | g.189002965G>A | CA349842718 | COL3A1 | c.2357G>A (p.Gly786Asp) c.2456G>A (p.Gly819Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.189002965G>C | CA349842719 | COL3A1 | c.2357G>C (p.Gly786Ala) c.2456G>C (p.Gly819Ala) | gnomAD v4 |
2 | g.189002965G>T | CA349842720 | COL3A1 | c.2357G>T (p.Gly786Val) c.2456G>T (p.Gly819Val) | gnomAD v4 |
2 | g.189002966T>A | CA430311309 | COL3A1 | c.2358T>A (p.Gly786=) c.2457T>A (p.Gly819=) | |
2 | g.189002966T>C | CA430311310 | COL3A1 | c.2358T>C (p.Gly786=) c.2457T>C (p.Gly819=) | ClinVar dbSNP |
2 | g.189002966T>G | CA430311311 | COL3A1 | c.2358T>G (p.Gly786=) c.2457T>G (p.Gly819=) | |
2 | g.189002967G>A | CA349842721 | COL3A1 | c.2359G>A (p.Glu787Lys) c.2458G>A (p.Glu820Lys) | ClinVar |
2 | g.189002967G>C | CA349842722 | COL3A1 | c.2359G>C (p.Glu787Gln) c.2458G>C (p.Glu820Gln) | |
2 | g.189002967G>T | CA349842723 | COL3A1 | c.2359G>T (p.Glu787Ter) c.2458G>T (p.Glu820Ter) | gnomAD v4 |
2 | g.189002968A>C | CA349842724 | COL3A1 | c.2360A>C (p.Glu787Ala) c.2459A>C (p.Glu820Ala) | |
2 | g.189002968A>G | CA349842726 | COL3A1 | c.2360A>G (p.Glu787Gly) c.2459A>G (p.Glu820Gly) | |
2 | g.189002968A>T | CA349842725 | COL3A1 | c.2360A>T (p.Glu787Val) c.2459A>T (p.Glu820Val) | |
2 | g.189002969A= | CA1315402512 | COL3A1 | c.2361A= (p.Glu787=) c.2460A= (p.Glu820=) | |
2 | g.189002969A>C | CA349842727 | COL3A1 | c.2361A>C (p.Glu787Asp) c.2460A>C (p.Glu820Asp) | gnomAD v4 |
2 | g.189002969A>G | CA62556308 | COL3A1 | c.2361A>G (p.Glu787=) c.2460A>G (p.Glu820=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189002969A>T | CA349842728 | COL3A1 | c.2361A>T (p.Glu787Asp) c.2460A>T (p.Glu820Asp) | dbSNP |
2 | g.189002970C>A | CA349842729 | COL3A1 | c.2362C>A (p.Pro788Thr) c.2461C>A (p.Pro821Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002970C= | CA1315402513 | COL3A1 | c.2362C= (p.Pro788=) c.2461C= (p.Pro821=) | |
2 | g.189002970C>G | CA349842730 | COL3A1 | c.2362C>G (p.Pro788Ala) c.2461C>G (p.Pro821Ala) | |
2 | g.189002970C>T | CA349842731 | COL3A1 | c.2362C>T (p.Pro788Ser) c.2461C>T (p.Pro821Ser) | gnomAD v4 |
2 | g.189002971C>A | CA349842732 | COL3A1 | c.2363C>A (p.Pro788His) c.2462C>A (p.Pro821His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002971C= | CA1315402514 | COL3A1 | c.2363C= (p.Pro788=) c.2462C= (p.Pro821=) | |
2 | g.189002971C>G | CA349842733 | COL3A1 | c.2363C>G (p.Pro788Arg) c.2462C>G (p.Pro821Arg) | |
2 | g.189002971C>T | CA349842734 | COL3A1 | c.2363C>T (p.Pro788Leu) c.2462C>T (p.Pro821Leu) | ClinVar COSMIC COSMIC |
2 | g.189002972T>A | CA430311312 | COL3A1 | c.2364T>A (p.Pro788=) c.2463T>A (p.Pro821=) | gnomAD v4 |
2 | g.189002972T>C | CA430311313 | COL3A1 | c.2364T>C (p.Pro788=) c.2463T>C (p.Pro821=) | gnomAD v4 |
2 | g.189002972T>G | CA430311314 | COL3A1 | c.2364T>G (p.Pro788=) c.2463T>G (p.Pro821=) | |
2 | g.189002973G>A | CA005398 | COL3A1 | c.2365G>A (p.Gly789Ser) c.2464G>A (p.Gly822Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002973G>C | CA349842735 | COL3A1 | c.2365G>C (p.Gly789Arg) c.2464G>C (p.Gly822Arg) | gnomAD v4 |
2 | g.189002973G= | CA1315402515 | COL3A1 | c.2365G= (p.Gly789=) c.2464G= (p.Gly822=) | |
2 | g.189002973G>T | CA349842736 | COL3A1 | c.2365G>T (p.Gly789Cys) c.2464G>T (p.Gly822Cys) | gnomAD v4 |
2 | g.189002974G>A | CA349842738 | COL3A1 | c.2366G>A (p.Gly789Asp) c.2465G>A (p.Gly822Asp) | |
2 | g.189002974G>C | CA349842739 | COL3A1 | c.2366G>C (p.Gly789Ala) c.2465G>C (p.Gly822Ala) | |
2 | g.189002974G>T | CA349842737 | COL3A1 | c.2366G>T (p.Gly789Val) c.2465G>T (p.Gly822Val) | gnomAD v4 |
2 | g.189002975T>A | CA430311315 | COL3A1 | c.2367T>A (p.Gly789=) c.2466T>A (p.Gly822=) | |
2 | g.189002975T>C | CA430311316 | COL3A1 | c.2367T>C (p.Gly789=) c.2466T>C (p.Gly822=) | gnomAD v4 |
2 | g.189002975T>G | CA430311317 | COL3A1 | c.2367T>G (p.Gly789=) c.2466T>G (p.Gly822=) | |
2 | g.189002976G>A | CA62556315 | COL3A1 | c.2368G>A (p.Gly790Ser) c.2467G>A (p.Gly823Ser) | dbSNP |
2 | g.189002976G>C | CA349842740 | COL3A1 | c.2368G>C (p.Gly790Arg) c.2467G>C (p.Gly823Arg) | |
2 | g.189002976G= | CA1315402516 | COL3A1 | c.2368G= (p.Gly790=) c.2467G= (p.Gly823=) | |
2 | g.189002976G>T | CA349842741 | COL3A1 | c.2368G>T (p.Gly790Cys) c.2467G>T (p.Gly823Cys) | gnomAD v4 |
2 | g.189002977G>A | CA349842742 | COL3A1 | c.2369G>A (p.Gly790Asp) c.2468G>A (p.Gly823Asp) | gnomAD v4 |
2 | g.189002977G>C | CA349842743 | COL3A1 | c.2369G>C (p.Gly790Ala) c.2468G>C (p.Gly823Ala) | |
2 | g.189002977G>T | CA349842744 | COL3A1 | c.2369G>T (p.Gly790Val) c.2468G>T (p.Gly823Val) | gnomAD v4 |
2 | g.189002978T>A | CA430311318 | COL3A1 | c.2370T>A (p.Gly790=) c.2469T>A (p.Gly823=) | |
2 | g.189002978T>C | CA430311319 | COL3A1 | c.2370T>C (p.Gly790=) c.2469T>C (p.Gly823=) | |
2 | g.189002978T>G | CA430311320 | COL3A1 | c.2370T>G (p.Gly790=) c.2469T>G (p.Gly823=) | |
2 | g.189002979A>C | CA349842747 | COL3A1 | c.2371A>C (p.Lys791Gln) c.2470A>C (p.Lys824Gln) | |
2 | g.189002979A>G | CA349842745 | COL3A1 | c.2371A>G (p.Lys791Glu) c.2470A>G (p.Lys824Glu) | gnomAD v4 |
2 | g.189002979A>T | CA349842746 | COL3A1 | c.2371A>T (p.Lys791Ter) c.2470A>T (p.Lys824Ter) | |
2 | g.189002980A= | CA1315402517 | COL3A1 | c.2372A= (p.Lys791=) c.2471A= (p.Lys824=) | |
2 | g.189002980A>C | CA349842748 | COL3A1 | c.2372A>C (p.Lys791Thr) c.2471A>C (p.Lys824Thr) | |
2 | g.189002980A>G | CA62556320 | COL3A1 | c.2372A>G (p.Lys791Arg) c.2471A>G (p.Lys824Arg) | dbSNP |
2 | g.189002980A>T | CA349842749 | COL3A1 | c.2372A>T (p.Lys791Ile) c.2471A>T (p.Lys824Ile) | |
2 | g.189002981A= | CA1315402518 | COL3A1 | c.2373A= (p.Lys791=) c.2472A= (p.Lys824=) | |
2 | g.189002981A>C | CA349842750 | COL3A1 | c.2373A>C (p.Lys791Asn) c.2472A>C (p.Lys824Asn) | |
2 | g.189002981A>G | CA430311321 | COL3A1 | c.2373A>G (p.Lys791=) c.2472A>G (p.Lys824=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002981A>T | CA349842751 | COL3A1 | c.2373A>T (p.Lys791Asn) c.2472A>T (p.Lys824Asn) | gnomAD v4 |
2 | g.189002982G>A | CA349842754 | COL3A1 | c.2374G>A (p.Gly792Arg) c.2473G>A (p.Gly825Arg) | |
2 | g.189002982G>C | CA349842752 | COL3A1 | c.2374G>C (p.Gly792Arg) c.2473G>C (p.Gly825Arg) | |
2 | g.189002982G>T | CA349842753 | COL3A1 | c.2374G>T (p.Gly792Ter) c.2473G>T (p.Gly825Ter) | gnomAD v4 |
2 | g.189002983G>A | CA349842755 | COL3A1 | c.2375G>A (p.Gly792Glu) c.2474G>A (p.Gly825Glu) | gnomAD v4 |
2 | g.189002983G>C | CA349842756 | COL3A1 | c.2375G>C (p.Gly792Ala) c.2474G>C (p.Gly825Ala) | |
2 | g.189002983G>T | CA349842757 | COL3A1 | c.2375G>T (p.Gly792Val) c.2474G>T (p.Gly825Val) | gnomAD v4 |
2 | g.189002984A= | CA1315402519 | COL3A1 | c.2376A= (p.Gly792=) c.2475A= (p.Gly825=) | |
2 | g.189002984A>C | CA430311326 | COL3A1 | c.2376A>C (p.Gly792=) c.2475A>C (p.Gly825=) | |
2 | g.189002984A>G | CA430311325 | COL3A1 | c.2376A>G (p.Gly792=) c.2475A>G (p.Gly825=) | dbSNP gnomAD v2 |
2 | g.189002984A>T | CA430311324 | COL3A1 | c.2376A>T (p.Gly792=) c.2475A>T (p.Gly825=) | |
2 | g.189002985G>A | CA349842758 | COL3A1 | c.2377G>A (p.Glu793Lys) c.2476G>A (p.Glu826Lys) | gnomAD v4 |
2 | g.189002985G>C | CA349842759 | COL3A1 | c.2377G>C (p.Glu793Gln) c.2476G>C (p.Glu826Gln) | |
2 | g.189002985G>T | CA349842760 | COL3A1 | c.2377G>T (p.Glu793Ter) c.2476G>T (p.Glu826Ter) | gnomAD v4 |
2 | g.189002986A>C | CA349842761 | COL3A1 | c.2378A>C (p.Glu793Ala) c.2477A>C (p.Glu826Ala) | |
2 | g.189002986A>G | CA349842762 | COL3A1 | c.2378A>G (p.Glu793Gly) c.2477A>G (p.Glu826Gly) | |
2 | g.189002986A>T | CA349842763 | COL3A1 | c.2378A>T (p.Glu793Val) c.2477A>T (p.Glu826Val) | |
2 | g.189002988del | CA2662309700 | COL3A1 | c.2380del (p.Arg794GlufsTer?) c.2479del (p.Arg827GlufsTer?) | gnomAD v4 |
2 | g.189002987A= | CA1315402520 | COL3A1 | c.2379A= (p.Glu793=) c.2478A= (p.Glu826=) | |
2 | g.189002987A>C | CA349842764 | COL3A1 | c.2379A>C (p.Glu793Asp) c.2478A>C (p.Glu826Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002987A>G | CA430311327 | COL3A1 | c.2379A>G (p.Glu793=) c.2478A>G (p.Glu826=) | |
2 | g.189002987A>T | CA349842765 | COL3A1 | c.2379A>T (p.Glu793Asp) c.2478A>T (p.Glu826Asp) | |
2 | g.189002988A= | CA1315402521 | COL3A1 | c.2380A= (p.Arg794=) c.2479A= (p.Arg827=) | |
2 | g.189002988A>C | CA430311328 | COL3A1 | c.2380A>C (p.Arg794=) c.2479A>C (p.Arg827=) | |
2 | g.189002988A>G | CA349842766 | COL3A1 | c.2380A>G (p.Arg794Gly) c.2479A>G (p.Arg827Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002988A>T | CA349842767 | COL3A1 | c.2380A>T (p.Arg794Ter) c.2479A>T (p.Arg827Ter) | |
2 | g.189002989del | CA077848 | COL3A1 | c.2381del (p.Arg794LysfsTer?) c.2480del (p.Arg827LysfsTer?) | |
2 | g.189002989G>A | CA62556325 | COL3A1 | c.2381G>A (p.Arg794Lys) c.2480G>A (p.Arg827Lys) | dbSNP |
2 | g.189002989G>C | CA349842768 | COL3A1 | c.2381G>C (p.Arg794Thr) c.2480G>C (p.Arg827Thr) | |
2 | g.189002989G= | CA1315402522 | COL3A1 | c.2381G= (p.Arg794=) c.2480G= (p.Arg827=) | |
2 | g.189002989G>T | CA349842769 | COL3A1 | c.2381G>T (p.Arg794Ile) c.2480G>T (p.Arg827Ile) | |
2 | g.189002990A= | CA1315402523 | COL3A1 | c.2382A= (p.Arg794=) c.2481A= (p.Arg827=) | |
2 | g.189002990A>C | CA349842770 | COL3A1 | c.2382A>C (p.Arg794Ser) c.2481A>C (p.Arg827Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002990A>G | CA430311329 | COL3A1 | c.2382A>G (p.Arg794=) c.2481A>G (p.Arg827=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002990A>T | CA349842771 | COL3A1 | c.2382A>T (p.Arg794Ser) c.2481A>T (p.Arg827Ser) | |
2 | g.189002991G>A | CA349842772 | COL3A1 | c.2383G>A (p.Gly795Arg) c.2482G>A (p.Gly828Arg) | gnomAD v4 |
2 | g.189002991G>C | CA349842773 | COL3A1 | c.2383G>C (p.Gly795Arg) c.2482G>C (p.Gly828Arg) | |
2 | g.189002991G= | CA1315402524 | COL3A1 | c.2383G= (p.Gly795=) c.2482G= (p.Gly828=) | |
2 | g.189002991G>T | CA077842 | COL3A1 | c.2383G>T (p.Gly795Trp) c.2482G>T (p.Gly828Trp) | ClinVar dbSNP |
2 | g.189002992G>A | CA349842776 | COL3A1 | c.2384G>A (p.Gly795Glu) c.2483G>A (p.Gly828Glu) | ClinVar gnomAD v4 |
2 | g.189002992G>C | CA349842775 | COL3A1 | c.2384G>C (p.Gly795Ala) c.2483G>C (p.Gly828Ala) | |
2 | g.189002992G>T | CA349842774 | COL3A1 | c.2384G>T (p.Gly795Val) c.2483G>T (p.Gly828Val) | gnomAD v4 |
2 | g.189002993G>A | CA430311330 | COL3A1 | c.2385G>A (p.Gly795=) c.2484G>A (p.Gly828=) | gnomAD v4 |
2 | g.189002993G>C | CA430311331 | COL3A1 | c.2385G>C (p.Gly795=) c.2484G>C (p.Gly828=) | |
2 | g.189002993G= | CA1315402525 | COL3A1 | c.2385G= (p.Gly795=) c.2484G= (p.Gly828=) | |
2 | g.189002993G>T | CA430311332 | COL3A1 | c.2385G>T (p.Gly795=) c.2484G>T (p.Gly828=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189002994G>A | CA349842777 | COL3A1 | c.2386G>A (p.Ala796Thr) c.2485G>A (p.Ala829Thr) | |
2 | g.189002994G>C | CA349842778 | COL3A1 | c.2386G>C (p.Ala796Pro) c.2485G>C (p.Ala829Pro) | |
2 | g.189002994G= | CA1315402527 | COL3A1 | c.2386G= (p.Ala796=) c.2485G= (p.Ala829=) | |
2 | g.189002994G>T | CA005410 | COL3A1 | c.2386G>T (p.Ala796Ser) c.2485G>T (p.Ala829Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189002994_189003021delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC | CA1315402526 | COL3A1 | c.2386_2413delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala796=) c.2485_2512delinsGCTCCGGGTGAGAAAGGTGAAGGAGGCC (p.Ala829=) | |
2 | g.189002995C>A | CA349842779 | COL3A1 | c.2387C>A (p.Ala796Asp) c.2486C>A (p.Ala829Asp) | gnomAD v4 |
2 | g.189002995C= | CA1315402528 | COL3A1 | c.2387C= (p.Ala796=) c.2486C= (p.Ala829=) | |
2 | g.189002995C>G | CA349842780 | COL3A1 | c.2387C>G (p.Ala796Gly) c.2486C>G (p.Ala829Gly) | gnomAD v4 |
2 | g.189002995C>T | CA349842781 | COL3A1 | c.2387C>T (p.Ala796Val) c.2486C>T (p.Ala829Val) | dbSNP |
2 | g.189002999_189003025del | CA005416 | COL3A1 | c.2391_2417del (p.Gly798_Pro806del) c.2490_2516del (p.Gly831_Pro839del) | ClinVar dbSNP |
2 | g.189002996T>A | CA430311337 | COL3A1 | c.2388T>A (p.Ala796=) c.2487T>A (p.Ala829=) | dbSNP |
2 | g.189002996T>C | CA430311335 | COL3A1 | c.2388T>C (p.Ala796=) c.2487T>C (p.Ala829=) | gnomAD v4 |
2 | g.189002996T>G | CA430311336 | COL3A1 | c.2388T>G (p.Ala796=) c.2487T>G (p.Ala829=) | |
2 | g.189002996T= | CA1315402529 | COL3A1 | c.2388T= (p.Ala796=) c.2487T= (p.Ala829=) | |
2 | g.189002997C>A | CA349842784 | COL3A1 | c.2389C>A (p.Pro797Thr) c.2488C>A (p.Pro830Thr) | gnomAD v4 |
2 | g.189002997C= | CA1315402530 | COL3A1 | c.2389C= (p.Pro797=) c.2488C= (p.Pro830=) | |
2 | g.189002997C>G | CA349842782 | COL3A1 | c.2389C>G (p.Pro797Ala) c.2488C>G (p.Pro830Ala) | gnomAD v4 |
2 | g.189002997C>T | CA349842783 | COL3A1 | c.2389C>T (p.Pro797Ser) c.2488C>T (p.Pro830Ser) | dbSNP gnomAD v4 |
2 | g.189002998del | CA2662309701 | COL3A1 | c.2390del (p.Pro797ArgfsTer?) c.2489del (p.Pro830ArgfsTer?) | gnomAD v4 |
2 | g.189002998C>A | CA349842785 | COL3A1 | c.2390C>A (p.Pro797Gln) c.2489C>A (p.Pro830Gln) | gnomAD v4 |
2 | g.189002998C= | CA1315402531 | COL3A1 | c.2390C= (p.Pro797=) c.2489C= (p.Pro830=) | |
2 | g.189002998C>G | CA349842786 | COL3A1 | c.2390C>G (p.Pro797Arg) c.2489C>G (p.Pro830Arg) | ClinVar gnomAD v4 |
2 | g.189002998C>T | CA10587532 | COL3A1 | c.2390C>T (p.Pro797Leu) c.2489C>T (p.Pro830Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |