Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC | ClinVar |
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188990016C>T | CA2662287007 | COL3A1 | c.691-80C>T (n.691-80C>T) | gnomAD v4 |
2 | g.188990017A>C | CA2753571987 | COL3A1 | c.691-79A>C (n.691-79A>C) | |
2 | g.188990018A>G | CA2662287008 | COL3A1 | c.691-78A>G (n.691-78A>G) | gnomAD v4 |
2 | g.188990020G>A | CA62590105 | COL3A1 | c.691-76G>A (n.691-76G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990020G>C | CA2581798773 | COL3A1 | c.691-76G>C (n.691-76G>C) | |
2 | g.188990020G= | CA1315396578 | COL3A1 | c.691-76G= (n.691-76G=) | |
2 | g.188990020G>T | CA1315396575 | COL3A1 | c.691-76G>T (n.691-76G>T) | dbSNP gnomAD v4 |
2 | g.188990022A>T | CA2662287011 | COL3A1 | c.691-74A>T (n.691-74A>T) | gnomAD v4 |
2 | g.188990023A= | CA1315396579 | COL3A1 | c.691-73A= (n.691-73A=) | |
2 | g.188990023A>C | CA2662287013 | COL3A1 | c.691-73A>C (n.691-73A>C) | gnomAD v4 |
2 | g.188990023A>T | CA762192024 | COL3A1 | c.691-73A>T (n.691-73A>T) | dbSNP |
2 | g.188990023_188990024delinsAC | CA1315396581 | COL3A1 | c.691-73_691-72delinsAC (n.691-73_691-72delinsAC) | |
2 | g.188990024C>A | CA2662287014 | COL3A1 | c.691-72C>A (n.691-72C>A) | gnomAD v4 |
2 | g.188990024C>G | CA2662287015 | COL3A1 | c.691-72C>G (n.691-72C>G) | gnomAD v4 |
2 | g.188990025del | CA916734453 | COL3A1 | c.691-71del (n.691-71del) | dbSNP |
2 | g.188990025C>A | CA2662287016 | COL3A1 | c.691-71C>A (n.691-71C>A) | gnomAD v4 |
2 | g.188990025C>T | CA2662287017 | COL3A1 | c.691-71C>T (n.691-71C>T) | gnomAD v4 |
2 | g.188990026A>G | CA2662287018 | COL3A1 | c.691-70A>G (n.691-70A>G) | gnomAD v4 |
2 | g.188990030dup | CA2753571989 | COL3A1 | c.691-66dup (n.691-66dup) | |
2 | g.188990028T>C | CA2662287019 | COL3A1 | c.691-68T>C (n.691-68T>C) | gnomAD v4 |
2 | g.188990028T>G | CA1040404848 | COL3A1 | c.691-68T>G (n.691-68T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990028T= | CA1315396583 | COL3A1 | c.691-68T= (n.691-68T=) | |
2 | g.188990029T>C | CA62590110 | COL3A1 | c.691-67T>C (n.691-67T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990029T= | CA1315396585 | COL3A1 | c.691-67T= (n.691-67T=) | |
2 | g.188990030T>C | CA2662287020 | COL3A1 | c.691-66T>C (n.691-66T>C) | gnomAD v4 |
2 | g.188990031G>C | CA62590111 | COL3A1 | c.691-65G>C (n.691-65G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990031G= | CA1315396586 | COL3A1 | c.691-65G= (n.691-65G=) | |
2 | g.188990032C>A | CA2662287021 | COL3A1 | c.691-64C>A (n.691-64C>A) | gnomAD v4 |
2 | g.188990032C>T | CA2662287022 | COL3A1 | c.691-64C>T (n.691-64C>T) | gnomAD v4 |
2 | g.188990034T>C | CA62590112 | COL3A1 | c.691-62T>C (n.691-62T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990034T>G | CA2662287023 | COL3A1 | c.691-62T>G (n.691-62T>G) | gnomAD v4 |
2 | g.188990034T= | CA1315396588 | COL3A1 | c.691-62T= (n.691-62T=) | |
2 | g.188990035A>G | CA2662287024 | COL3A1 | c.691-61A>G (n.691-61A>G) | gnomAD v4 |
2 | g.188990036T>A | CA2662287025 | COL3A1 | c.691-60T>A (n.691-60T>A) | gnomAD v4 |
2 | g.188990039G>C | CA2662287026 | COL3A1 | c.691-57G>C (n.691-57G>C) | gnomAD v4 |
2 | g.188990040C>A | CA2662287027 | COL3A1 | c.691-56C>A (n.691-56C>A) | gnomAD v4 |
2 | g.188990041T>C | CA1315396591 | COL3A1 | c.691-55T>C (n.691-55T>C) | dbSNP gnomAD v4 |
2 | g.188990041T>G | CA2753571990 | COL3A1 | c.691-55T>G (n.691-55T>G) | |
2 | g.188990041T= | CA1315396590 | COL3A1 | c.691-55T= (n.691-55T=) | |
2 | g.188990042A>T | CA2662287028 | COL3A1 | c.691-54A>T (n.691-54A>T) | gnomAD v4 |
2 | g.188990043C>A | CA62590113 | COL3A1 | c.691-53C>A (n.691-53C>A) | dbSNP gnomAD v4 |
2 | g.188990043C= | CA1315396592 | COL3A1 | c.691-53C= (n.691-53C=) | |
2 | g.188990044A= | CA1315396595 | COL3A1 | c.691-52A= (n.691-52A=) | |
2 | g.188990044A>C | CA1315396594 | COL3A1 | c.691-52A>C (n.691-52A>C) | dbSNP gnomAD v4 |
2 | g.188990044A>G | CA2662287029 | COL3A1 | c.691-52A>G (n.691-52A>G) | gnomAD v4 |
2 | g.188990045del | CA2662287030 | COL3A1 | c.691-51del (n.691-51del) | gnomAD v4 |
2 | g.188990045A= | CA1315396596 | COL3A1 | c.691-51A= (n.691-51A=) | |
2 | g.188990045A>G | CA076815 | COL3A1 | c.691-51A>G (n.691-51A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990046T>A | CA076813 | COL3A1 | c.691-50T>A (n.691-50T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990046T>C | CA2565199494 | COL3A1 | c.691-50T>C (n.691-50T>C) | |
2 | g.188990046T= | CA1315396597 | COL3A1 | c.691-50T= (n.691-50T=) | |
2 | g.188990047G= | CA1315396598 | COL3A1 | c.691-49G= (n.691-49G=) | |
2 | g.188990047G>T | CA538441088 | COL3A1 | c.691-49G>T (n.691-49G>T) | dbSNP gnomAD v2 |
2 | g.188990048T>C | CA2662287031 | COL3A1 | c.691-48T>C (n.691-48T>C) | gnomAD v4 |
2 | g.188990049A>G | CA2662287032 | COL3A1 | c.691-47A>G (n.691-47A>G) | gnomAD v4 |
2 | g.188990051T>C | CA2662287033 | COL3A1 | c.691-45T>C (n.691-45T>C) | gnomAD v4 |
2 | g.188990052T>G | CA2662287034 | COL3A1 | c.691-44T>G (n.691-44T>G) | gnomAD v4 |
2 | g.188990053T>C | CA076812 | COL3A1 | c.691-43T>C (n.691-43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990053T= | CA1315396599 | COL3A1 | c.691-43T= (n.691-43T=) | |
2 | g.188990054C>A | CA2577185172 | COL3A1 | c.691-42C>A (n.691-42C>A) | gnomAD v4 |
2 | g.188990054C= | CA1315396601 | COL3A1 | c.691-42C= (n.691-42C=) | |
2 | g.188990054C>T | CA076810 | COL3A1 | c.691-42C>T (n.691-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990055T>C | CA2662287035 | COL3A1 | c.691-41T>C (n.691-41T>C) | gnomAD v4 |
2 | g.188990056C>A | CA2662287036 | COL3A1 | c.691-40C>A (n.691-40C>A) | gnomAD v4 |
2 | g.188990056C>T | CA2701315126 | COL3A1 | c.691-40C>T (n.691-40C>T) | dbSNP |
2 | g.188990058T>C | CA2577185173 | COL3A1 | c.691-38T>C (n.691-38T>C) | gnomAD v4 |
2 | g.188990059A= | CA1315396602 | COL3A1 | c.691-37A= (n.691-37A=) | |
2 | g.188990059A>G | CA538441089 | COL3A1 | c.691-37A>G (n.691-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188990060C>A | CA2662287037 | COL3A1 | c.691-36C>A (n.691-36C>A) | gnomAD v4 |
2 | g.188990060C= | CA1315396603 | COL3A1 | c.691-36C= (n.691-36C=) | |
2 | g.188990060C>T | CA1315396604 | COL3A1 | c.691-36C>T (n.691-36C>T) | dbSNP |
2 | g.188990061A>G | CA2577185174 | COL3A1 | c.691-35A>G (n.691-35A>G) | gnomAD v4 |
2 | g.188990062T>C | CA1040404856 | COL3A1 | c.691-34T>C (n.691-34T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990062T= | CA1315396606 | COL3A1 | c.691-34T= (n.691-34T=) | |
2 | g.188990065G>A | CA076808 | COL3A1 | c.691-31G>A (n.691-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990065G= | CA1315396607 | COL3A1 | c.691-31G= (n.691-31G=) | |
2 | g.188990066C= | CA1315396608 | COL3A1 | c.691-30C= (n.691-30C=) | |
2 | g.188990066C>G | CA2662287038 | COL3A1 | c.691-30C>G (n.691-30C>G) | gnomAD v4 |
2 | g.188990066C>T | CA076806 | COL3A1 | c.691-30C>T (n.691-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990068C>A | CA2701020739 | COL3A1 | c.691-28C>A (n.691-28C>A) | dbSNP |
2 | g.188990068C= | CA1315396609 | COL3A1 | c.691-28C= (n.691-28C=) | |
2 | g.188990068C>G | CA2577185175 | COL3A1 | c.691-28C>G (n.691-28C>G) | gnomAD v4 |
2 | g.188990068C>T | CA076805 | COL3A1 | c.691-28C>T (n.691-28C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.188990069_188990088del | CA2580065291 | COL3A1 | c.691-27_691-8del (n.691-27_691-8del) | ClinVar |
2 | g.188990070T>A | CA647380686 | COL3A1 | c.691-26T>A (n.691-26T>A) | COSMIC |
2 | g.188990070T>C | CA1315396612 | COL3A1 | c.691-26T>C (n.691-26T>C) | dbSNP |
2 | g.188990070T>G | CA2753571993 | COL3A1 | c.691-26T>G (n.691-26T>G) | |
2 | g.188990070T= | CA1315396611 | COL3A1 | c.691-26T= (n.691-26T=) | |
2 | g.188990071A= | CA1315396613 | COL3A1 | c.691-25A= (n.691-25A=) | |
2 | g.188990071A>T | CA762192039 | COL3A1 | c.691-25A>T (n.691-25A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990072C>A | CA762192042 | COL3A1 | c.691-24C>A (n.691-24C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990072C= | CA1315396616 | COL3A1 | c.691-24C= (n.691-24C=) | |
2 | g.188990072C>G | CA076801 | COL3A1 | c.691-24C>G (n.691-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990072C>T | CA076803 | COL3A1 | c.691-24C>T (n.691-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990073G>A | CA076797 | COL3A1 | c.691-23G>A (n.691-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.188990073G>C | CA076799 | COL3A1 | c.691-23G>C (n.691-23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990073G= | CA1315396617 | COL3A1 | c.691-23G= (n.691-23G=) | |
2 | g.188990073G>T | CA2662287039 | COL3A1 | c.691-23G>T (n.691-23G>T) | gnomAD v4 |
2 | g.188990074T>C | CA2662287040 | COL3A1 | c.691-22T>C (n.691-22T>C) | gnomAD v4 |
2 | g.188990075A>G | CA2662287041 | COL3A1 | c.691-21A>G (n.691-21A>G) | gnomAD v4 |
2 | g.188990075A>T | CA2662287042 | COL3A1 | c.691-21A>T (n.691-21A>T) | gnomAD v4 |
2 | g.188990076T>A | CA2662287043 | COL3A1 | c.691-20T>A (n.691-20T>A) | gnomAD v4 |
2 | g.188990077T>C | CA2662287044 | COL3A1 | c.691-19T>C (n.691-19T>C) | gnomAD v4 |
2 | g.188990078C>A | CA647380692 | COL3A1 | c.691-18C>A (n.691-18C>A) | COSMIC |
2 | g.188990078C>G | CA2662287045 | COL3A1 | c.691-18C>G (n.691-18C>G) | gnomAD v4 |
2 | g.188990079T>C | CA762192045 | COL3A1 | c.691-17T>C (n.691-17T>C) | dbSNP gnomAD v4 |
2 | g.188990079T= | CA1315396618 | COL3A1 | c.691-17T= (n.691-17T=) | |
2 | g.188990081T>C | CA076795 | COL3A1 | c.691-15T>C (n.691-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990081T= | CA1315396619 | COL3A1 | c.691-15T= (n.691-15T=) | |
2 | g.188990083_188990098del | CA1139768232 | COL3A1 | c.691-13_693del | |
2 | g.188990083T>A | CA538441090 | COL3A1 | c.691-13T>A (n.691-13T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188990083T>G | CA2701041186 | COL3A1 | c.691-13T>G (n.691-13T>G) | dbSNP |
2 | g.188990083T= | CA1315396620 | COL3A1 | c.691-13T= (n.691-13T=) | |
2 | g.188990084T>G | CA913187966 | COL3A1 | c.691-12T>G (n.691-12T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.188990084T= | CA1315396622 | COL3A1 | c.691-12T= (n.691-12T=) | |
2 | g.188990086C>A | CA2662287046 | COL3A1 | c.691-10C>A (n.691-10C>A) | gnomAD v4 |
2 | g.188990087T>C | CA076818 | COL3A1 | c.691-9T>C (n.691-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990087T= | CA1315396623 | COL3A1 | c.691-9T= (n.691-9T=) | |
2 | g.188990088C= | CA1315396624 | COL3A1 | c.691-8C= (n.691-8C=) | |
2 | g.188990088C>G | CA076816 | COL3A1 | c.691-8C>G (n.691-8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990088C>T | CA1315396625 | COL3A1 | c.691-8C>T (n.691-8C>T) | dbSNP gnomAD v4 |
2 | g.188990090A>C | CA2662287048 | COL3A1 | c.691-6A>C (n.691-6A>C) | gnomAD v4 |
2 | g.188990091C>A | CA2586965482 | COL3A1 | c.691-5C>A (n.691-5C>A) | gnomAD v4 |
2 | g.188990091C= | CA1315396626 | COL3A1 | c.691-5C= (n.691-5C=) | |
2 | g.188990091C>T | CA1315396627 | COL3A1 | c.691-5C>T (n.691-5C>T) | dbSNP |
2 | g.188990092C>A | CA2662287049 | COL3A1 | c.691-4C>A (n.691-4C>A) | gnomAD v4 |
2 | g.188990092C>G | CA2577185176 | COL3A1 | c.691-4C>G (n.691-4C>G) | ClinVar |
2 | g.188990094A= | CA1315396628 | COL3A1 | c.691-2A= (n.691-2A=) | |
2 | g.188990094A>C | CA349848940 | COL3A1 | c.691-2A>C (n.691-2A>C) | |
2 | g.188990094A>G | CA349848939 | COL3A1 | c.691-2A>G (n.691-2A>G) | ClinVar dbSNP |
2 | g.188990094A>T | CA349848937 | COL3A1 | c.691-2A>T (n.691-2A>T) | |
2 | g.188990095G>A | CA349848941 | COL3A1 | c.691-1G>A (n.691-1G>A) | ClinVar |
2 | g.188990095G>C | CA349848943 | COL3A1 | c.691-1G>C (n.691-1G>C) | |
2 | g.188990095G>T | CA349848944 | COL3A1 | c.691-1G>T (n.691-1G>T) | |
2 | g.188990096G>A | CA349848945 | COL3A1 | c.691G>A (p.Gly231Arg) | |
2 | g.188990096G>C | CA349848947 | COL3A1 | c.691G>C (p.Gly231Arg) | |
2 | g.188990096G>T | CA349848949 | COL3A1 | c.691G>T (p.Gly231Ter) | |
2 | g.188990097G>A | CA349848950 | COL3A1 | c.692G>A (p.Gly231Glu) | COSMIC COSMIC |
2 | g.188990097G>C | CA349848952 | COL3A1 | c.692G>C (p.Gly231Ala) | |
2 | g.188990097G>T | CA349848953 | COL3A1 | c.692G>T (p.Gly231Val) | |
2 | g.188990098A= | CA1315396632 | COL3A1 | c.693A= (p.Gly231=) | |
2 | g.188990098A>C | CA430309032 | COL3A1 | c.693A>C (p.Gly231=) | |
2 | g.188990098A>G | CA076821 | COL3A1 | c.693A>G (p.Gly231=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990098A>T | CA430309033 | COL3A1 | c.693A>T (p.Gly231=) | |
2 | g.188990099G>A | CA349848956 | COL3A1 | c.694G>A (p.Glu232Lys) | |
2 | g.188990099G>C | CA349848958 | COL3A1 | c.694G>C (p.Glu232Gln) | gnomAD v4 |
2 | g.188990099G>T | CA349848959 | COL3A1 | c.694G>T (p.Glu232Ter) | COSMIC COSMIC |
2 | g.188990100A= | CA1315396634 | COL3A1 | c.695A= (p.Glu232=) | |
2 | g.188990100A>C | CA076823 | COL3A1 | c.695A>C (p.Glu232Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990100A>G | CA349848963 | COL3A1 | c.695A>G (p.Glu232Gly) | |
2 | g.188990100A>T | CA349848961 | COL3A1 | c.695A>T (p.Glu232Val) | |
2 | g.188990101A= | CA1315396637 | COL3A1 | c.696A= (p.Glu232=) | |
2 | g.188990101A>C | CA349848965 | COL3A1 | c.696A>C (p.Glu232Asp) | |
2 | g.188990101A>G | CA007287 | COL3A1 | c.696A>G (p.Glu232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990101A>T | CA349848966 | COL3A1 | c.696A>T (p.Glu232Asp) | |
2 | g.188990102T>A | CA349848968 | COL3A1 | c.697T>A (p.Ser233Thr) | |
2 | g.188990102T>C | CA349848970 | COL3A1 | c.697T>C (p.Ser233Pro) | |
2 | g.188990102T>G | CA349848971 | COL3A1 | c.697T>G (p.Ser233Ala) | |
2 | g.188990103C>A | CA349848973 | COL3A1 | c.698C>A (p.Ser233Ter) | |
2 | g.188990103C>G | CA349848975 | COL3A1 | c.698C>G (p.Ser233Ter) | ClinVar dbSNP |
2 | g.188990103C>T | CA349848977 | COL3A1 | c.698C>T (p.Ser233Leu) | |
2 | g.188990104A>C | CA430309034 | COL3A1 | c.699A>C (p.Ser233=) | |
2 | g.188990104A>G | CA430309036 | COL3A1 | c.699A>G (p.Ser233=) | gnomAD v4 |
2 | g.188990104A>T | CA430309035 | COL3A1 | c.699A>T (p.Ser233=) | |
2 | g.188990105G>A | CA349848978 | COL3A1 | c.700G>A (p.Gly234Ser) | |
2 | g.188990105G>C | CA349848980 | COL3A1 | c.700G>C (p.Gly234Arg) | |
2 | g.188990105G>T | CA349848982 | COL3A1 | c.700G>T (p.Gly234Cys) | |
2 | g.188990106G>A | CA007294 | COL3A1 | c.701G>A (p.Gly234Asp) | ClinVar dbSNP |
2 | g.188990106G>C | CA349848983 | COL3A1 | c.701G>C (p.Gly234Ala) | |
2 | g.188990106G= | CA1315396639 | COL3A1 | c.701G= (p.Gly234=) | |
2 | g.188990106G>T | CA349848985 | COL3A1 | c.701G>T (p.Gly234Val) | |
2 | g.188990107T>A | CA430309037 | COL3A1 | c.702T>A (p.Gly234=) | |
2 | g.188990107T>C | CA430309038 | COL3A1 | c.702T>C (p.Gly234=) | gnomAD v4 |
2 | g.188990107T>G | CA430309039 | COL3A1 | c.702T>G (p.Gly234=) | |
2 | g.188990108A>C | CA430309040 | COL3A1 | c.703A>C (p.Arg235=) | |
2 | g.188990108A>G | CA349848988 | COL3A1 | c.703A>G (p.Arg235Gly) | |
2 | g.188990108A>T | CA349848987 | COL3A1 | c.703A>T (p.Arg235Ter) | |
2 | g.188990109G>A | CA349848989 | COL3A1 | c.704G>A (p.Arg235Lys) | |
2 | g.188990109G>C | CA349848990 | COL3A1 | c.704G>C (p.Arg235Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990109G= | CA1315396641 | COL3A1 | c.704G= (p.Arg235=) | |
2 | g.188990109G>T | CA076825 | COL3A1 | c.704G>T (p.Arg235Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990110A>C | CA349848992 | COL3A1 | c.705A>C (p.Arg235Ser) | |
2 | g.188990110A>G | CA430309041 | COL3A1 | c.705A>G (p.Arg235=) | |
2 | g.188990110A>T | CA349848994 | COL3A1 | c.705A>T (p.Arg235Ser) | |
2 | g.188990111C>A | CA349848996 | COL3A1 | c.706C>A (p.Pro236Thr) | |
2 | g.188990111C= | CA1315396642 | COL3A1 | c.706C= (p.Pro236=) | |
2 | g.188990111C>G | CA349848997 | COL3A1 | c.706C>G (p.Pro236Ala) | |
2 | g.188990111C>T | CA007305 | COL3A1 | c.706C>T (p.Pro236Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990112C>A | CA349848998 | COL3A1 | c.707C>A (p.Pro236His) | |
2 | g.188990112C= | CA1315396644 | COL3A1 | c.707C= (p.Pro236=) | |
2 | g.188990112C>G | CA349848999 | COL3A1 | c.707C>G (p.Pro236Arg) | ClinVar dbSNP |
2 | g.188990112C>T | CA349849000 | COL3A1 | c.707C>T (p.Pro236Leu) | ClinVar |
2 | g.188990113C>A | CA430309042 | COL3A1 | c.708C>A (p.Pro236=) | |
2 | g.188990113C= | CA1315396646 | COL3A1 | c.708C= (p.Pro236=) | |
2 | g.188990113C>G | CA076829 | COL3A1 | c.708C>G (p.Pro236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990113C>T | CA430309043 | COL3A1 | c.708C>T (p.Pro236=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.188990114G>A | CA007314 | COL3A1 | c.709G>A (p.Gly237Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.188990114G>C | CA349849002 | COL3A1 | c.709G>C (p.Gly237Arg) | |
2 | g.188990114G= | CA1315396649 | COL3A1 | c.709G= (p.Gly237=) | |
2 | g.188990114G>T | CA349849001 | COL3A1 | c.709G>T (p.Gly237Ter) | |
2 | g.188990115G>A | CA349849003 | COL3A1 | c.710G>A (p.Gly237Glu) | |
2 | g.188990115G>C | CA349849004 | COL3A1 | c.710G>C (p.Gly237Ala) | |
2 | g.188990115G>T | CA349849005 | COL3A1 | c.710G>T (p.Gly237Val) | |
2 | g.188990116A>C | CA430309044 | COL3A1 | c.711A>C (p.Gly237=) | |
2 | g.188990116A>G | CA430309045 | COL3A1 | c.711A>G (p.Gly237=) | ClinVar dbSNP |
2 | g.188990116A>T | CA430309046 | COL3A1 | c.711A>T (p.Gly237=) |