Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991528C>A | CA430309184 | COL3A1 | c.894C>A (p.Pro298=) | |
2 | g.188991528C>G | CA430309186 | COL3A1 | c.894C>G (p.Pro298=) | |
2 | g.188991528C>T | CA430309185 | COL3A1 | c.894C>T (p.Pro298=) | gnomAD v4 |
2 | g.188991528_188991529delinsAT | CA645527367 | COL3A1 | c.894_895delinsAT (p.Met299Leu) | COSMIC COSMIC |
2 | g.188991529A= | CA1315396648 | COL3A1 | c.895A= (p.Met299=) | |
2 | g.188991529A>C | CA349849951 | COL3A1 | c.895A>C (p.Met299Leu) | |
2 | g.188991529A>G | CA349849952 | COL3A1 | c.895A>G (p.Met299Val) | ClinVar gnomAD v4 COSMIC |
2 | g.188991529A>T | CA349849953 | COL3A1 | c.895A>T (p.Met299Leu) | dbSNP gnomAD v4 |
2 | g.188991530T>A | CA349849954 | COL3A1 | c.896T>A (p.Met299Lys) | |
2 | g.188991530T>C | CA349849955 | COL3A1 | c.896T>C (p.Met299Thr) | gnomAD v4 |
2 | g.188991530T>G | CA349849956 | COL3A1 | c.896T>G (p.Met299Arg) | |
2 | g.188991531G>A | CA349849957 | COL3A1 | c.897G>A (p.Met299Ile) | |
2 | g.188991531G>C | CA349849959 | COL3A1 | c.897G>C (p.Met299Ile) | |
2 | g.188991531G>T | CA349849958 | COL3A1 | c.897G>T (p.Met299Ile) | |
2 | g.188991533_188991669del | CA2753572047 | COL3A1 | c.897+2_898del | |
2 | g.188991532G>A | CA16042456 | COL3A1 | c.897+1G>A (n.897+1G>A) | ClinVar dbSNP |
2 | g.188991532G>C | CA349849960 | COL3A1 | c.897+1G>C (n.897+1G>C) | |
2 | g.188991532G= | CA1315396650 | COL3A1 | c.897+1G= (n.897+1G=) | |
2 | g.188991532G>T | CA349849961 | COL3A1 | c.897+1G>T (n.897+1G>T) | |
2 | g.188991533T>A | CA349849962 | COL3A1 | c.897+2T>A (n.897+2T>A) | |
2 | g.188991533T>C | CA349849963 | COL3A1 | c.897+2T>C (n.897+2T>C) | |
2 | g.188991533T>G | CA349849964 | COL3A1 | c.897+2T>G (n.897+2T>G) | |
2 | g.188991534A>G | CA2662287838 | COL3A1 | c.897+3A>G (n.897+3A>G) | gnomAD v4 |
2 | g.188991535A= | CA1315396652 | COL3A1 | c.897+4A= (n.897+4A=) | |
2 | g.188991535A>G | CA10587527 | COL3A1 | c.897+4A>G (n.897+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991537T>G | CA2662287840 | COL3A1 | c.897+6T>G (n.897+6T>G) | gnomAD v4 |
2 | g.188991538A>C | CA2662287841 | COL3A1 | c.897+7A>C (n.897+7A>C) | gnomAD v4 |
2 | g.188991539T>C | CA2662287842 | COL3A1 | c.897+8T>C (n.897+8T>C) | gnomAD v4 |
2 | g.188991541T>C | CA077027 | COL3A1 | c.897+10T>C (n.897+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991541T= | CA1315396654 | COL3A1 | c.897+10T= (n.897+10T=) | |
2 | g.188991543T>A | CA2739278526 | COL3A1 | c.897+12T>A (n.897+12T>A) | ClinVar |
2 | g.188991546T>G | CA077029 | COL3A1 | c.897+15T>G (n.897+15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991546T= | CA1315396655 | COL3A1 | c.897+15T= (n.897+15T=) | |
2 | g.188991547dup | CA2021741 | COL3A1 | c.897+16dup (n.897+16dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991548T>A | CA1315396658 | COL3A1 | c.897+17T>A (n.897+17T>A) | dbSNP |
2 | g.188991548T>C | CA077031 | COL3A1 | c.897+17T>C (n.897+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991548T>G | CA2662287845 | COL3A1 | c.897+17T>G (n.897+17T>G) | gnomAD v4 |
2 | g.188991548T= | CA1315396657 | COL3A1 | c.897+17T= (n.897+17T=) | |
2 | g.188991550T>C | CA538441143 | COL3A1 | c.897+19T>C (n.897+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991550T= | CA1315396660 | COL3A1 | c.897+19T= (n.897+19T=) | |
2 | g.188991551del | CA2739278527 | COL3A1 | c.897+20del (n.897+20del) | ClinVar |
2 | g.188991551A>G | CA2740096378 | COL3A1 | c.897+20A>G (n.897+20A>G) | ClinVar |
2 | g.188991552T>A | CA077032 | COL3A1 | c.897+21T>A (n.897+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991552T>C | CA913089601 | COL3A1 | c.897+21T>C (n.897+21T>C) | gnomAD v4 |
2 | g.188991552T= | CA1315396661 | COL3A1 | c.897+21T= (n.897+21T=) | |
2 | g.188991554A>C | CA647380765 | COL3A1 | c.897+23A>C (n.897+23A>C) | COSMIC |
2 | g.188991554_188991555delinsAT | CA1315396662 | COL3A1 | c.897+23_897+24delinsAT (n.897+23_897+24delinsAT) | |
2 | g.188991555T>G | CA1315396665 | COL3A1 | c.897+24T>G (n.897+24T>G) | dbSNP |
2 | g.188991555T= | CA1315396664 | COL3A1 | c.897+24T= (n.897+24T=) | |
2 | g.188991558del | CA1315396663 | COL3A1 | c.897+27del (n.897+27del) | dbSNP |
2 | g.188991559C>T | CA2662287846 | COL3A1 | c.897+28C>T (n.897+28C>T) | gnomAD v4 |
2 | g.188991560A= | CA1315396667 | COL3A1 | c.897+29A= (n.897+29A=) | |
2 | g.188991560A>G | CA2662287847 | COL3A1 | c.897+29A>G (n.897+29A>G) | gnomAD v4 |
2 | g.188991560A>T | CA62592789 | COL3A1 | c.897+29A>T (n.897+29A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991561G>A | CA62592823 | COL3A1 | c.897+30G>A (n.897+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991561G= | CA1315396669 | COL3A1 | c.897+30G= (n.897+30G=) | |
2 | g.188991563T>G | CA077034 | COL3A1 | c.897+32T>G (n.897+32T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991563T= | CA1315396670 | COL3A1 | c.897+32T= (n.897+32T=) | |
2 | g.188991570_188991572del | CA2577185235 | COL3A1 | c.897+39_897+41del (n.897+39_897+41del) | |
2 | g.188991565T>G | CA2577185236 | COL3A1 | c.897+34T>G (n.897+34T>G) | |
2 | g.188991566_188991567del | CA077037 | COL3A1 | c.897+35_897+36del (n.897+35_897+36del) | |
2 | g.188991566A= | CA1315396671 | COL3A1 | c.897+35A= (n.897+35A=) | |
2 | g.188991566A>G | CA2021742 | COL3A1 | c.897+35A>G (n.897+35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991566A>T | CA2577185237 | COL3A1 | c.897+35A>T (n.897+35A>T) | |
2 | g.188991566_188991567delinsAT | CA1315396673 | COL3A1 | c.897+35_897+36delinsAT (n.897+35_897+36delinsAT) | |
2 | g.188991568del | CA2021743 | COL3A1 | c.897+37del (n.897+37del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991570T>A | CA1040405440 | COL3A1 | c.897+39T>A (n.897+39T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991570T>C | CA2577185238 | COL3A1 | c.897+39T>C (n.897+39T>C) | gnomAD v4 |
2 | g.188991570T= | CA1315396674 | COL3A1 | c.897+39T= (n.897+39T=) | |
2 | g.188991571T>A | CA1040405445 | COL3A1 | c.897+40T>A (n.897+40T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991571T= | CA1315396675 | COL3A1 | c.897+40T= (n.897+40T=) | |
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=) |