Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188991503C>A | CA349849900 | COL3A1 | c.869C>A (p.Pro290Gln) | gnomAD v4 |
2 | g.188991503C= | CA1315396615 | COL3A1 | c.869C= (p.Pro290=) | |
2 | g.188991503C>G | CA349849898 | COL3A1 | c.869C>G (p.Pro290Arg) | |
2 | g.188991503C>T | CA349849899 | COL3A1 | c.869C>T (p.Pro290Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.188991504A>C | CA430309167 | COL3A1 | c.870A>C (p.Pro290=) | |
2 | g.188991504A>G | CA430309168 | COL3A1 | c.870A>G (p.Pro290=) | gnomAD v4 |
2 | g.188991504A>T | CA430309169 | COL3A1 | c.870A>T (p.Pro290=) | |
2 | g.188991505G>A | CA349849901 | COL3A1 | c.871G>A (p.Gly291Ser) | |
2 | g.188991505G>C | CA349849902 | COL3A1 | c.871G>C (p.Gly291Arg) | |
2 | g.188991505G>T | CA349849903 | COL3A1 | c.871G>T (p.Gly291Cys) | |
2 | g.188991506G>A | CA349849904 | COL3A1 | c.872G>A (p.Gly291Asp) | |
2 | g.188991506G>C | CA349849905 | COL3A1 | c.872G>C (p.Gly291Ala) | |
2 | g.188991506G>T | CA349849906 | COL3A1 | c.872G>T (p.Gly291Val) | |
2 | g.188991507C>A | CA430309170 | COL3A1 | c.873C>A (p.Gly291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.188991507C= | CA1315396621 | COL3A1 | c.873C= (p.Gly291=) | |
2 | g.188991507C>G | CA077015 | COL3A1 | c.873C>G (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188991507C>T | CA077017 | COL3A1 | c.873C>T (p.Gly291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>A | CA077019 | COL3A1 | c.874G>A (p.Glu292Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991508G>C | CA349849907 | COL3A1 | c.874G>C (p.Glu292Gln) | dbSNP gnomAD v2 |
2 | g.188991508G= | CA1315396629 | COL3A1 | c.874G= (p.Glu292=) | |
2 | g.188991508G>T | CA349849908 | COL3A1 | c.874G>T (p.Glu292Ter) | |
2 | g.188991509A>C | CA349849911 | COL3A1 | c.875A>C (p.Glu292Ala) | |
2 | g.188991509A>G | CA349849910 | COL3A1 | c.875A>G (p.Glu292Gly) | |
2 | g.188991509A>T | CA349849909 | COL3A1 | c.875A>T (p.Glu292Val) | |
2 | g.188991510A= | CA1315396630 | COL3A1 | c.876A= (p.Glu292=) | |
2 | g.188991510A>C | CA349849912 | COL3A1 | c.876A>C (p.Glu292Asp) | |
2 | g.188991510A>G | CA430309171 | COL3A1 | c.876A>G (p.Glu292=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991510A>T | CA349849913 | COL3A1 | c.876A>T (p.Glu292Asp) | |
2 | g.188991511A= | CA1315396631 | COL3A1 | c.877A= (p.Asn293=) | |
2 | g.188991511A>C | CA349849914 | COL3A1 | c.877A>C (p.Asn293His) | |
2 | g.188991511A>G | CA349849915 | COL3A1 | c.877A>G (p.Asn293Asp) | ClinVar dbSNP |
2 | g.188991511A>T | CA349849916 | COL3A1 | c.877A>T (p.Asn293Tyr) | |
2 | g.188991512A= | CA1315396633 | COL3A1 | c.878A= (p.Asn293=) | |
2 | g.188991512A>C | CA349849917 | COL3A1 | c.878A>C (p.Asn293Thr) | |
2 | g.188991512A>G | CA349849918 | COL3A1 | c.878A>G (p.Asn293Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991512A>T | CA349849919 | COL3A1 | c.878A>T (p.Asn293Ile) | |
2 | g.188991513T>A | CA349849920 | COL3A1 | c.879T>A (p.Asn293Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.188991513T>C | CA430309172 | COL3A1 | c.879T>C (p.Asn293=) | |
2 | g.188991513T>G | CA349849921 | COL3A1 | c.879T>G (p.Asn293Lys) | |
2 | g.188991513T= | CA1315396635 | COL3A1 | c.879T= (p.Asn293=) | |
2 | g.188991514G>A | CA349849922 | COL3A1 | c.880G>A (p.Gly294Arg) | ClinVar dbSNP |
2 | g.188991514G>C | CA349849923 | COL3A1 | c.880G>C (p.Gly294Arg) | |
2 | g.188991514G>T | CA349849924 | COL3A1 | c.880G>T (p.Gly294Ter) | |
2 | g.188991515G>A | CA349849927 | COL3A1 | c.881G>A (p.Gly294Glu) | gnomAD v4 COSMIC |
2 | g.188991515G>C | CA349849925 | COL3A1 | c.881G>C (p.Gly294Ala) | |
2 | g.188991515G>T | CA349849926 | COL3A1 | c.881G>T (p.Gly294Val) | |
2 | g.188991516A>C | CA430309173 | COL3A1 | c.882A>C (p.Gly294=) | |
2 | g.188991516A>G | CA430309174 | COL3A1 | c.882A>G (p.Gly294=) | |
2 | g.188991516A>T | CA430309175 | COL3A1 | c.882A>T (p.Gly294=) | |
2 | g.188991517G>A | CA349849928 | COL3A1 | c.883G>A (p.Ala295Thr) | |
2 | g.188991517G>C | CA349849929 | COL3A1 | c.883G>C (p.Ala295Pro) | dbSNP gnomAD v4 |
2 | g.188991517G= | CA1315396636 | COL3A1 | c.883G= (p.Ala295=) | |
2 | g.188991517G>T | CA349849930 | COL3A1 | c.883G>T (p.Ala295Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188991518C>A | CA349849931 | COL3A1 | c.884C>A (p.Ala295Asp) | |
2 | g.188991518C= | CA1315396638 | COL3A1 | c.884C= (p.Ala295=) | |
2 | g.188991518C>G | CA349849932 | COL3A1 | c.884C>G (p.Ala295Gly) | |
2 | g.188991518C>T | CA62592729 | COL3A1 | c.884C>T (p.Ala295Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188991519T>A | CA430309176 | COL3A1 | c.885T>A (p.Ala295=) | |
2 | g.188991519T>C | CA430309177 | COL3A1 | c.885T>C (p.Ala295=) | ClinVar dbSNP |
2 | g.188991519T>G | CA430309178 | COL3A1 | c.885T>G (p.Ala295=) | |
2 | g.188991519T= | CA1315396640 | COL3A1 | c.885T= (p.Ala295=) | |
2 | g.188991520C>A | CA349849933 | COL3A1 | c.886C>A (p.Pro296Thr) | |
2 | g.188991520C>G | CA349849934 | COL3A1 | c.886C>G (p.Pro296Ala) | |
2 | g.188991520C>T | CA349849935 | COL3A1 | c.886C>T (p.Pro296Ser) | gnomAD v4 |
2 | g.188991521C>A | CA349849936 | COL3A1 | c.887C>A (p.Pro296His) | |
2 | g.188991521C>G | CA349849937 | COL3A1 | c.887C>G (p.Pro296Arg) | |
2 | g.188991521C>T | CA349849938 | COL3A1 | c.887C>T (p.Pro296Leu) | |
2 | g.188991522T>A | CA430309180 | COL3A1 | c.888T>A (p.Pro296=) | |
2 | g.188991522T>C | CA430309181 | COL3A1 | c.888T>C (p.Pro296=) | |
2 | g.188991522T>G | CA430309179 | COL3A1 | c.888T>G (p.Pro296=) | |
2 | g.188991523G>A | CA349849940 | COL3A1 | c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
2 | g.188991523G>C | CA349849941 | COL3A1 | c.889G>C (p.Gly297Arg) | |
2 | g.188991523G= | CA1315396643 | COL3A1 | c.889G= (p.Gly297=) | |
2 | g.188991523G>T | CA349849939 | COL3A1 | c.889G>T (p.Gly297Ter) | |
2 | g.188991524G>A | CA349849943 | COL3A1 | c.890G>A (p.Gly297Glu) | |
2 | g.188991524G>C | CA349849942 | COL3A1 | c.890G>C (p.Gly297Ala) | gnomAD v4 |
2 | g.188991524G>T | CA349849944 | COL3A1 | c.890G>T (p.Gly297Val) | |
2 | g.188991525A= | CA1315396645 | COL3A1 | c.891A= (p.Gly297=) | |
2 | g.188991525A>C | CA077025 | COL3A1 | c.891A>C (p.Gly297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188991525A>G | CA430309183 | COL3A1 | c.891A>G (p.Gly297=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188991525A>T | CA430309182 | COL3A1 | c.891A>T (p.Gly297=) | |
2 | g.188991526C>A | CA349849945 | COL3A1 | c.892C>A (p.Pro298Thr) | dbSNP |
2 | g.188991526C= | CA1315396647 | COL3A1 | c.892C= (p.Pro298=) | |
2 | g.188991526C>G | CA349849946 | COL3A1 | c.892C>G (p.Pro298Ala) | |
2 | g.188991526C>T | CA349849947 | COL3A1 | c.892C>T (p.Pro298Ser) | gnomAD v4 COSMIC |
2 | g.188991527C>A | CA349849948 | COL3A1 | c.893C>A (p.Pro298His) | |
2 | g.188991527C>G | CA349849949 | COL3A1 | c.893C>G (p.Pro298Arg) | |
2 | g.188991527C>T | CA349849950 | COL3A1 | c.893C>T (p.Pro298Leu) | |
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 |