Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991533_188991669del | CA2753572047 | COL3A1 | c.897+2_898del | |
2 | g.188991573A= | CA1315396678 | COL3A1 | c.897+42A= (n.897+42A=) | |
2 | g.188991573A>T | CA1315396676 | COL3A1 | c.897+42A>T (n.897+42A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991574C>A | CA077041 | COL3A1 | c.897+43C>A (n.897+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991574C= | CA1315396679 | COL3A1 | c.897+43C= (n.897+43C=) | |
2 | g.188991575C= | CA1315396680 | COL3A1 | c.897+44C= (n.897+44C=) | |
2 | g.188991575C>G | CA077043 | COL3A1 | c.897+44C>G (n.897+44C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991575C>T | CA2662287848 | COL3A1 | c.897+44C>T (n.897+44C>T) | gnomAD v4 |
2 | g.188991576T>A | CA2662287849 | COL3A1 | c.897+45T>A (n.897+45T>A) | gnomAD v4 |
2 | g.188991576T>G | CA2753572048 | COL3A1 | c.897+45T>G (n.897+45T>G) | |
2 | g.188991577C= | CA1315396681 | COL3A1 | c.897+46C= (n.897+46C=) | |
2 | g.188991577C>T | CA1315396682 | COL3A1 | c.897+46C>T (n.897+46C>T) | dbSNP |
2 | g.188991579T>C | CA2577185239 | COL3A1 | c.897+48T>C (n.897+48T>C) | gnomAD v4 |
2 | g.188991580T>C | CA2662287851 | COL3A1 | c.897+49T>C (n.897+49T>C) | gnomAD v4 |
2 | g.188991581G>A | CA538441144 | COL3A1 | c.897+50G>A (n.897+50G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991581G= | CA1315396683 | COL3A1 | c.897+50G= (n.897+50G=) | |
2 | g.188991582T>C | CA2577185240 | COL3A1 | c.897+51T>C (n.897+51T>C) | |
2 | g.188991585C= | CA1315396684 | COL3A1 | c.897+54C= (n.897+54C=) | |
2 | g.188991585C>G | CA62592850 | COL3A1 | c.897+54C>G (n.897+54C>G) | dbSNP gnomAD v4 |
2 | g.188991586del | CA2662287852 | COL3A1 | c.897+55del (n.897+55del) | gnomAD v4 |
2 | g.188991587T>C | CA2662287853 | COL3A1 | c.897+56T>C (n.897+56T>C) | gnomAD v4 |
2 | g.188991587T= | CA1315396686 | COL3A1 | c.897+56T= (n.897+56T=) | |
2 | g.188991591dup | CA1315396687 | COL3A1 | c.897+60dup (n.897+60dup) | dbSNP |
2 | g.188991588_188991606del | CA2577185241 | COL3A1 | c.897+57_898-63del (n.897+57_898-63del) | |
2 | g.188991591A= | CA1315396688 | COL3A1 | c.897+60A= (n.897+60A=) | |
2 | g.188991591A>G | CA62592869 | COL3A1 | c.897+60A>G (n.897+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991592C= | CA1315396689 | COL3A1 | c.897+61C= (n.897+61C=) | |
2 | g.188991592C>G | CA1040405452 | COL3A1 | c.897+61C>G (n.897+61C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991592C>T | CA2662287854 | COL3A1 | c.897+61C>T (n.897+61C>T) | gnomAD v4 |
2 | g.188991593T>C | CA2662287855 | COL3A1 | c.897+62T>C (n.897+62T>C) | gnomAD v4 |
2 | g.188991596_188991598delinsCTT | CA1315396690 | COL3A1 | c.897+65_897+67delinsCTT (n.897+65_897+67delinsCTT) | |
2 | g.188991598_188991599del | CA62592874 | COL3A1 | c.897+67_897+68del (n.897+67_897+68del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991600G>A | CA62592898 | COL3A1 | c.898-69G>A (n.898-69G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991600G>C | CA62592904 | COL3A1 | c.898-69G>C (n.898-69G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991600G= | CA1315396692 | COL3A1 | c.898-69G= (n.898-69G=) | |
2 | g.188991601C= | CA1315396693 | COL3A1 | c.898-68C= (n.898-68C=) | |
2 | g.188991601C>G | CA62592910 | COL3A1 | c.898-68C>G (n.898-68C>G) | dbSNP |
2 | g.188991601C>T | CA1315396694 | COL3A1 | c.898-68C>T (n.898-68C>T) | dbSNP gnomAD v4 |
2 | g.188991602T>G | CA2541590577 | COL3A1 | c.898-67T>G (n.898-67T>G) | |
2 | g.188991603C>A | CA2526215303 | COL3A1 | c.898-66C>A (n.898-66C>A) | |
2 | g.188991603C= | CA1315396696 | COL3A1 | c.898-66C= (n.898-66C=) | |
2 | g.188991603C>T | CA1315396697 | COL3A1 | c.898-66C>T (n.898-66C>T) | dbSNP gnomAD v4 |
2 | g.188991605dup | CA2662287857 | COL3A1 | c.898-64dup (n.898-64dup) | gnomAD v4 |
2 | g.188991605C= | CA1315396698 | COL3A1 | c.898-64C= (n.898-64C=) | |
2 | g.188991605C>T | CA1040405460 | COL3A1 | c.898-64C>T (n.898-64C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991606_188991607delinsAC | CA1315396699 | COL3A1 | c.898-63_898-62delinsAC (n.898-63_898-62delinsAC) | |
2 | g.188991607C>A | CA62592916 | COL3A1 | c.898-62C>A (n.898-62C>A) | dbSNP gnomAD v4 |
2 | g.188991607C= | CA1315396700 | COL3A1 | c.898-62C= (n.898-62C=) | |
2 | g.188991607C>T | CA762192981 | COL3A1 | c.898-62C>T (n.898-62C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991610del | CA1315396701 | COL3A1 | c.898-59del (n.898-59del) | dbSNP |
2 | g.188991608C>A | CA2577185242 | COL3A1 | c.898-61C>A (n.898-61C>A) | |
2 | g.188991609C>A | CA62592920 | COL3A1 | c.898-60C>A (n.898-60C>A) | dbSNP |
2 | g.188991609C= | CA1315396702 | COL3A1 | c.898-60C= (n.898-60C=) | |
2 | g.188991610C= | CA1315396703 | COL3A1 | c.898-59C= (n.898-59C=) | |
2 | g.188991610C>T | CA2662287858 | COL3A1 | c.898-59C>T (n.898-59C>T) | gnomAD v4 |
2 | g.188991612_188991633dup | CA1315396705 | COL3A1 | c.898-57_898-36dup (n.898-57_898-36dup) | dbSNP |
2 | g.188991612A>G | CA2662287859 | COL3A1 | c.898-57A>G (n.898-57A>G) | gnomAD v4 |
2 | g.188991612_188991614del | CA2505740970 | COL3A1 | c.898-57_898-55del (n.898-57_898-55del) | |
2 | g.188991615G>A | CA2662287860 | COL3A1 | c.898-54G>A (n.898-54G>A) | gnomAD v4 |
2 | g.188991616T>A | CA2547253335 | COL3A1 | c.898-53T>A (n.898-53T>A) | |
2 | g.188991616T>C | CA62592932 | COL3A1 | c.898-53T>C (n.898-53T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991616T= | CA1315396706 | COL3A1 | c.898-53T= (n.898-53T=) | |
2 | g.188991620del | CA2499686281 | COL3A1 | c.898-49del (n.898-49del) | |
2 | g.188991620T>G | CA538441145 | COL3A1 | c.898-49T>G (n.898-49T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991620T= | CA1315396707 | COL3A1 | c.898-49T= (n.898-49T=) | |
2 | g.188991622C= | CA1315396709 | COL3A1 | c.898-47C= (n.898-47C=) | |
2 | g.188991622C>T | CA538441146 | COL3A1 | c.898-47C>T (n.898-47C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991623A= | CA1315396710 | COL3A1 | c.898-46A= (n.898-46A=) | |
2 | g.188991623A>G | CA077058 | COL3A1 | c.898-46A>G (n.898-46A>G) | dbSNP ExAC gnomAD v2 |
2 | g.188991624C= | CA1315396712 | COL3A1 | c.898-45C= (n.898-45C=) | |
2 | g.188991624C>T | CA1315396713 | COL3A1 | c.898-45C>T (n.898-45C>T) | dbSNP gnomAD v4 |
2 | g.188991625A= | CA1315396715 | COL3A1 | c.898-44A= (n.898-44A=) | |
2 | g.188991625A>G | CA2662287861 | COL3A1 | c.898-44A>G (n.898-44A>G) | gnomAD v4 |
2 | g.188991625A>T | CA077056 | COL3A1 | c.898-44A>T (n.898-44A>T) | dbSNP ExAC gnomAD v4 |
2 | g.188991626T>A | CA2701024342 | COL3A1 | c.898-43T>A (n.898-43T>A) | dbSNP |
2 | g.188991626T>C | CA077054 | COL3A1 | c.898-43T>C (n.898-43T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991626T= | CA1315396717 | COL3A1 | c.898-43T= (n.898-43T=) | |
2 | g.188991627G>C | CA077052 | COL3A1 | c.898-42G>C (n.898-42G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991627G= | CA1315396719 | COL3A1 | c.898-42G= (n.898-42G=) | |
2 | g.188991629C>T | CA2662287862 | COL3A1 | c.898-40C>T (n.898-40C>T) | gnomAD v4 |
2 | g.188991630A= | CA1315396721 | COL3A1 | c.898-39A= (n.898-39A=) | |
2 | g.188991630A>G | CA762192995 | COL3A1 | c.898-39A>G (n.898-39A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991631A>G | CA2662287863 | COL3A1 | c.898-38A>G (n.898-38A>G) | gnomAD v4 |
2 | g.188991632G>A | CA2662287864 | COL3A1 | c.898-37G>A (n.898-37G>A) | gnomAD v4 |
2 | g.188991634T>A | CA2701316514 | COL3A1 | c.898-35T>A (n.898-35T>A) | dbSNP |
2 | g.188991635T>C | CA2662287865 | COL3A1 | c.898-34T>C (n.898-34T>C) | gnomAD v4 |
2 | g.188991636A>C | CA2662287866 | COL3A1 | c.898-33A>C (n.898-33A>C) | gnomAD v4 |
2 | g.188991637G>C | CA2662287867 | COL3A1 | c.898-32G>C (n.898-32G>C) | gnomAD v4 |
2 | g.188991639G= | CA1315396723 | COL3A1 | c.898-30G= (n.898-30G=) | |
2 | g.188991639G>T | CA1315396724 | COL3A1 | c.898-30G>T (n.898-30G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991643A= | CA1315396726 | COL3A1 | c.898-26A= (n.898-26A=) | |
2 | g.188991643A>C | CA62592977 | COL3A1 | c.898-26A>C (n.898-26A>C) | dbSNP gnomAD v4 |
2 | g.188991644A>G | CA2662287868 | COL3A1 | c.898-25A>G (n.898-25A>G) | gnomAD v4 |
2 | g.188991645C= | CA1315396728 | COL3A1 | c.898-24C= (n.898-24C=) | |
2 | g.188991645C>G | CA2662287869 | COL3A1 | c.898-24C>G (n.898-24C>G) | gnomAD v4 |
2 | g.188991645C>T | CA1315396729 | COL3A1 | c.898-24C>T (n.898-24C>T) | dbSNP |
2 | g.188991647A= | CA1315396731 | COL3A1 | c.898-22A= (n.898-22A=) | |
2 | g.188991647A>G | CA077050 | COL3A1 | c.898-22A>G (n.898-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991648T>A | CA077048 | COL3A1 | c.898-21T>A (n.898-21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991648T>C | CA2662287870 | COL3A1 | c.898-21T>C (n.898-21T>C) | gnomAD v4 |
2 | g.188991648T= | CA1315396733 | COL3A1 | c.898-21T= (n.898-21T=) | |
2 | g.188991649A= | CA1315396736 | COL3A1 | c.898-20A= (n.898-20A=) | |
2 | g.188991649A>G | CA077046 | COL3A1 | c.898-20A>G (n.898-20A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991650T>C | CA62592983 | COL3A1 | c.898-19T>C (n.898-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991650T= | CA1315396739 | COL3A1 | c.898-19T= (n.898-19T=) | |
2 | g.188991651T>A | CA2662287871 | COL3A1 | c.898-18T>A (n.898-18T>A) | gnomAD v4 |
2 | g.188991653C>A | CA2507017742 | COL3A1 | c.898-16C>A (n.898-16C>A) | gnomAD v4 |
2 | g.188991653C>T | CA2577185243 | COL3A1 | c.898-16C>T (n.898-16C>T) | dbSNP |
2 | g.188991654A>C | CA2701316626 | COL3A1 | c.898-15A>C (n.898-15A>C) | dbSNP |
2 | g.188991654A>G | CA2701316516 | COL3A1 | c.898-15A>G (n.898-15A>G) | dbSNP |
2 | g.188991655A= | CA1315396743 | COL3A1 | c.898-14A= (n.898-14A=) | |
2 | g.188991655A>C | CA2662287872 | COL3A1 | c.898-14A>C (n.898-14A>C) | gnomAD v4 |
2 | g.188991655A>G | CA077044 | COL3A1 | c.898-14A>G (n.898-14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991661C>A | CA077061 | COL3A1 | c.898-8C>A (n.898-8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991661C= | CA1315396752 | COL3A1 | c.898-8C= (n.898-8C=) | |
2 | g.188991661C>T | CA762193012 | COL3A1 | c.898-8C>T (n.898-8C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.188991663C>G | CA2701316660 | COL3A1 | c.898-6C>G (n.898-6C>G) | dbSNP |
2 | g.188991664T>C | CA077059 | COL3A1 | c.898-5T>C (n.898-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991664T= | CA1315396755 | COL3A1 | c.898-5T= (n.898-5T=) | |
2 | g.188991665G>A | CA538441147 | COL3A1 | c.898-4G>A (n.898-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991665G= | CA1315396760 | COL3A1 | c.898-4G= (n.898-4G=) | |
2 | g.188991665G>T | CA538441148 | COL3A1 | c.898-4G>T (n.898-4G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991667A= | CA1315396762 | COL3A1 | c.898-2A= (n.898-2A=) | |
2 | g.188991667A>C | CA349849965 | COL3A1 | c.898-2A>C (n.898-2A>C) | |
2 | g.188991667A>G | CA349849966 | COL3A1 | c.898-2A>G (n.898-2A>G) | ClinVar dbSNP |
2 | g.188991667A>T | CA349849967 | COL3A1 | c.898-2A>T (n.898-2A>T) | |
2 | g.188991668G>A | CA349849968 | COL3A1 | c.898-1G>A (n.898-1G>A) | ClinVar |
2 | g.188991668G>C | CA007525 | COL3A1 | c.898-1G>C (n.898-1G>C) | ClinVar dbSNP |
2 | g.188991668G= | CA1315396768 | COL3A1 | c.898-1G= (n.898-1G=) | |
2 | g.188991668G>T | CA349849969 | COL3A1 | c.898-1G>T (n.898-1G>T) | COSMIC COSMIC |
2 | g.188991669G>A | CA349849970 | COL3A1 | c.898G>A (p.Gly300Ser) | gnomAD v4 |
2 | g.188991669G>C | CA007534 | COL3A1 | c.898G>C (p.Gly300Arg) | ClinVar dbSNP |
2 | g.188991669G= | CA1315396774 | COL3A1 | c.898G= (p.Gly300=) | |
2 | g.188991669G>T | CA349849971 | COL3A1 | c.898G>T (p.Gly300Cys) | |
2 | g.188991670G>A | CA007546 | COL3A1 | c.899G>A (p.Gly300Asp) | ClinVar dbSNP |
2 | g.188991670G>C | CA349849972 | COL3A1 | c.899G>C (p.Gly300Ala) | |
2 | g.188991670G= | CA1315396777 | COL3A1 | c.899G= (p.Gly300=) | |
2 | g.188991670G>T | CA007555 | COL3A1 | c.899G>T (p.Gly300Val) | ClinVar dbSNP |
2 | g.188991671T>A | CA430309187 | COL3A1 | c.900T>A (p.Gly300=) | |
2 | g.188991671T>C | CA430309188 | COL3A1 | c.900T>C (p.Gly300=) | |
2 | g.188991671T>G | CA430309189 | COL3A1 | c.900T>G (p.Gly300=) | gnomAD v4 |
2 | g.188991672C>A | CA077063 | COL3A1 | c.901C>A (p.Pro301Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991672C= | CA1315396784 | COL3A1 | c.901C= (p.Pro301=) | |
2 | g.188991672C>G | CA077065 | COL3A1 | c.901C>G (p.Pro301Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991672C>T | CA349849973 | COL3A1 | c.901C>T (p.Pro301Ser) | |
2 | g.188991673C>A | CA349849974 | COL3A1 | c.902C>A (p.Pro301Gln) | |
2 | g.188991673C= | CA1315396791 | COL3A1 | c.902C= (p.Pro301=) | |
2 | g.188991673C>G | CA349849975 | COL3A1 | c.902C>G (p.Pro301Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991673C>T | CA349849976 | COL3A1 | c.902C>T (p.Pro301Leu) | ClinVar dbSNP |