Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999385_188999470delCA2753572428COL3A1c.2022+2_2023del
c.2121+2_2122del
2g.188999435C=CA1315400949COL3A1c.2023-35C= (n.2023-35C=)
c.2122-35C= (n.2122-35C=)
2g.188999435C>TCA075020COL3A1c.2023-35C>T (n.2023-35C>T)
c.2122-35C>T (n.2122-35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999438C=CA1315400950COL3A1c.2023-32C= (n.2023-32C=)
c.2122-32C= (n.2122-32C=)
2g.188999438C>TCA075018COL3A1c.2023-32C>T (n.2023-32C>T)
c.2122-32C>T (n.2122-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999440G>ACA2753572434COL3A1c.2023-30G>A (n.2023-30G>A)
c.2122-30G>A (n.2122-30G>A)
2g.188999442T>CCA62554581COL3A1c.2023-28T>C (n.2023-28T>C)
c.2122-28T>C (n.2122-28T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188999442T=CA1315400951COL3A1c.2023-28T= (n.2023-28T=)
c.2122-28T= (n.2122-28T=)
2g.188999443C>GCA1040409847COL3A1c.2023-27C>G (n.2023-27C>G)
c.2122-27C>G (n.2122-27C>G)
 gnomAD v3 gnomAD v4
2g.188999444A=CA1315400952COL3A1c.2023-26A= (n.2023-26A=)
c.2122-26A= (n.2122-26A=)
2g.188999444A>CCA1040409855COL3A1c.2023-26A>C (n.2023-26A>C)
c.2122-26A>C (n.2122-26A>C)
 gnomAD v3 gnomAD v4
2g.188999444A>GCA62554584COL3A1c.2023-26A>G (n.2023-26A>G)
c.2122-26A>G (n.2122-26A>G)
 dbSNP gnomAD v4
2g.188999445T>CCA1315400954COL3A1c.2023-25T>C (n.2023-25T>C)
c.2122-25T>C (n.2122-25T>C)
 dbSNP
2g.188999445T=CA1315400953COL3A1c.2023-25T= (n.2023-25T=)
c.2122-25T= (n.2122-25T=)
2g.188999446T>GCA2662309043COL3A1c.2023-24T>G (n.2023-24T>G)
c.2122-24T>G (n.2122-24T>G)
 gnomAD v4
2g.188999447T>CCA2577185638COL3A1c.2023-23T>C (n.2023-23T>C)
c.2122-23T>C (n.2122-23T>C)
2g.188999451A=CA1315400955COL3A1c.2023-19A= (n.2023-19A=)
c.2122-19A= (n.2122-19A=)
2g.188999451A>GCA538467224COL3A1c.2023-19A>G (n.2023-19A>G)
c.2122-19A>G (n.2122-19A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999453T>CCA1315400957COL3A1c.2023-17T>C (n.2023-17T>C)
c.2122-17T>C (n.2122-17T>C)
 dbSNP
2g.188999453T>GCA2577185639COL3A1c.2023-17T>G (n.2023-17T>G)
c.2122-17T>G (n.2122-17T>G)
2g.188999453T=CA1315400956COL3A1c.2023-17T= (n.2023-17T=)
c.2122-17T= (n.2122-17T=)
2g.188999454T>CCA1315400959COL3A1c.2023-16T>C (n.2023-16T>C)
c.2122-16T>C (n.2122-16T>C)
 dbSNP
2g.188999454T>GCA075016COL3A1c.2023-16T>G (n.2023-16T>G)
c.2122-16T>G (n.2122-16T>G)
 dbSNP ExAC gnomAD v2
2g.188999454T=CA1315400958COL3A1c.2023-16T= (n.2023-16T=)
c.2122-16T= (n.2122-16T=)
2g.188999457C=CA1315400960COL3A1c.2023-13C= (n.2023-13C=)
c.2122-13C= (n.2122-13C=)
2g.188999457C>TCA1315400961COL3A1c.2023-13C>T (n.2023-13C>T)
c.2122-13C>T (n.2122-13C>T)
 dbSNP
2g.188999459_188999462delCA2662309044COL3A1c.2023-11_2023-8del (n.2023-11_2023-8del)
c.2122-11_2122-8del (n.2122-11_2122-8del)
 gnomAD v4
2g.188999459C>GCA2697551451COL3A1c.2023-11C>G (n.2023-11C>G)
c.2122-11C>G (n.2122-11C>G)
 ClinVar
2g.188999460T>CCA075013COL3A1c.2023-10T>C (n.2023-10T>C)
c.2122-10T>C (n.2122-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999460T=CA1315400962COL3A1c.2023-10T= (n.2023-10T=)
c.2122-10T= (n.2122-10T=)
2g.188999461T>ACA2580065304COL3A1c.2023-9T>A (n.2023-9T>A)
c.2122-9T>A (n.2122-9T>A)
 ClinVar
2g.188999461T>CCA2662309045COL3A1c.2023-9T>C (n.2023-9T>C)
c.2122-9T>C (n.2122-9T>C)
 gnomAD v4
2g.188999461_188999462delinsTACA1315400963COL3A1c.2023-9_2023-8delinsTA (n.2023-9_2023-8delinsTA)
c.2122-9_2122-8delinsTA (n.2122-9_2122-8delinsTA)
2g.188999462delCA075023COL3A1c.2023-8del (n.2023-8del)
c.2122-8del (n.2122-8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999462_188999464delinsATTCA1315400964COL3A1c.2023-8_2023-6delinsATT (n.2023-8_2023-6delinsATT)
c.2122-8_2122-6delinsATT (n.2122-8_2122-6delinsATT)
2g.188999463T>CCA2662309046COL3A1c.2023-7T>C (n.2023-7T>C)
c.2122-7T>C (n.2122-7T>C)
 gnomAD v4
2g.188999465_188999466delCA1315400965COL3A1c.2023-5_2023-4del (n.2023-5_2023-4del)
c.2122-5_2122-4del (n.2122-5_2122-4del)
 dbSNP
2g.188999464T>CCA2662309047COL3A1c.2023-6T>C (n.2023-6T>C)
c.2122-6T>C (n.2122-6T>C)
 gnomAD v4
2g.188999465T>CCA2499215536COL3A1c.2023-5T>C (n.2023-5T>C)
c.2122-5T>C (n.2122-5T>C)
 ClinVar dbSNP
2g.188999466T>ACA762200197COL3A1c.2023-4T>A (n.2023-4T>A)
c.2122-4T>A (n.2122-4T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.188999466T>CCA2753572435COL3A1c.2023-4T>C (n.2023-4T>C)
c.2122-4T>C (n.2122-4T>C)
2g.188999466T=CA1315400966COL3A1c.2023-4T= (n.2023-4T=)
c.2122-4T= (n.2122-4T=)
2g.188999467C>GCA2577185640COL3A1c.2023-3C>G (n.2023-3C>G)
c.2122-3C>G (n.2122-3C>G)
2g.188999467C>TCA2825001062COL3A1c.2023-3C>T (n.2023-3C>T)
c.2122-3C>T (n.2122-3C>T)
 ClinVar
2g.188999468A>CCA349840489COL3A1c.2023-2A>C (n.2023-2A>C)
c.2122-2A>C (n.2122-2A>C)
2g.188999468A>GCA349840492COL3A1c.2023-2A>G (n.2023-2A>G)
c.2122-2A>G (n.2122-2A>G)
2g.188999468A>TCA349840495COL3A1c.2023-2A>T (n.2023-2A>T)
c.2122-2A>T (n.2122-2A>T)
2g.188999469G>ACA349840501COL3A1c.2023-1G>A (n.2023-1G>A)
c.2122-1G>A (n.2122-1G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.188999469G>CCA349840500COL3A1c.2023-1G>C (n.2023-1G>C)
c.2122-1G>C (n.2122-1G>C)
2g.188999469G=CA1315400968COL3A1c.2023-1G= (n.2023-1G=)
c.2122-1G= (n.2122-1G=)
2g.188999469G>TCA349840499COL3A1c.2023-1G>T (n.2023-1G>T)
c.2122-1G>T (n.2122-1G>T)
2g.188999469_188999496delinsGGGTGCTGCTGGTCCTCCTGGGCCACCTCA1315400967COL3A1c.2023-1_2049delinsGGGTGCTGCTGGTCCTCCTGGGCCACCT
c.2122-1_2148delinsGGGTGCTGCTGGTCCTCCTGGGCCACCT
2g.188999470G>ACA349840505COL3A1c.2023G>A (p.Gly675Ser)
c.2122G>A (p.Gly708Ser)
 ClinVar dbSNP
2g.188999470G>CCA349840508COL3A1c.2023G>C (p.Gly675Arg)
c.2122G>C (p.Gly708Arg)
2g.188999470G>TCA349840509COL3A1c.2023G>T (p.Gly675Cys)
c.2122G>T (p.Gly708Cys)
2g.188999482_188999508delCA005057COL3A1c.2035_2061del (p.Pro679_Gly687del)
c.2134_2160del (p.Pro712_Gly720del)
 ClinVar dbSNP
2g.188999471G>ACA62554598COL3A1c.2024G>A (p.Gly675Asp)
c.2123G>A (p.Gly708Asp)
 ClinVar dbSNP
2g.188999471G>CCA16604062COL3A1c.2024G>C (p.Gly675Ala)
c.2123G>C (p.Gly708Ala)
 ClinVar dbSNP gnomAD v4
2g.188999471G=CA1315400969COL3A1c.2024G= (p.Gly675=)
c.2123G= (p.Gly708=)
2g.188999471G>TCA005071COL3A1c.2024G>T (p.Gly675Val)
c.2123G>T (p.Gly708Val)
 ClinVar dbSNP
2g.188999472T>ACA430310583COL3A1c.2025T>A (p.Gly675=)
c.2124T>A (p.Gly708=)
2g.188999472T>CCA430310584COL3A1c.2025T>C (p.Gly675=)
c.2124T>C (p.Gly708=)
2g.188999472T>GCA430310585COL3A1c.2025T>G (p.Gly675=)
c.2124T>G (p.Gly708=)
2g.188999473G>ACA349840519COL3A1c.2026G>A (p.Ala676Thr)
c.2125G>A (p.Ala709Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.188999473G>CCA349840523COL3A1c.2026G>C (p.Ala676Pro)
c.2125G>C (p.Ala709Pro)
2g.188999473G=CA1315400970COL3A1c.2026G= (p.Ala676=)
c.2125G= (p.Ala709=)
2g.188999473G>TCA075027COL3A1c.2026G>T (p.Ala676Ser)
c.2125G>T (p.Ala709Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999474C>ACA075030COL3A1c.2027C>A (p.Ala676Asp)
c.2126C>A (p.Ala709Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999474C=CA1315400971COL3A1c.2027C= (p.Ala676=)
c.2126C= (p.Ala709=)
2g.188999474C>GCA349840531COL3A1c.2027C>G (p.Ala676Gly)
c.2126C>G (p.Ala709Gly)
2g.188999474C>TCA349840534COL3A1c.2027C>T (p.Ala676Val)
c.2126C>T (p.Ala709Val)
2g.188999475T>ACA430310586COL3A1c.2028T>A (p.Ala676=)
c.2127T>A (p.Ala709=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188999475T>CCA430310587COL3A1c.2028T>C (p.Ala676=)
c.2127T>C (p.Ala709=)
2g.188999475T>GCA430310588COL3A1c.2028T>G (p.Ala676=)
c.2127T>G (p.Ala709=)
2g.188999475T=CA1315400972COL3A1c.2028T= (p.Ala676=)
c.2127T= (p.Ala709=)
2g.188999476G>ACA349840540COL3A1c.2029G>A (p.Ala677Thr)
c.2128G>A (p.Ala710Thr)
 dbSNP
2g.188999476G>CCA349840542COL3A1c.2029G>C (p.Ala677Pro)
c.2128G>C (p.Ala710Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.188999476G=CA1315400973COL3A1c.2029G= (p.Ala677=)
c.2128G= (p.Ala710=)
2g.188999476G>TCA349840538COL3A1c.2029G>T (p.Ala677Ser)
c.2128G>T (p.Ala710Ser)
 gnomAD v4 COSMIC
2g.188999477C>ACA349840547COL3A1c.2030C>A (p.Ala677Asp)
c.2129C>A (p.Ala710Asp)
2g.188999477C>GCA349840545COL3A1c.2030C>G (p.Ala677Gly)
c.2129C>G (p.Ala710Gly)
2g.188999477C>TCA349840549COL3A1c.2030C>T (p.Ala677Val)
c.2129C>T (p.Ala710Val)
2g.188999478T>ACA430310589COL3A1c.2031T>A (p.Ala677=)
c.2130T>A (p.Ala710=)
 dbSNP
2g.188999478T>CCA430310590COL3A1c.2031T>C (p.Ala677=)
c.2130T>C (p.Ala710=)
2g.188999478T>GCA430310591COL3A1c.2031T>G (p.Ala677=)
c.2130T>G (p.Ala710=)
2g.188999478T=CA1315400974COL3A1c.2031T= (p.Ala677=)
c.2130T= (p.Ala710=)
2g.188999479G>ACA005078COL3A1c.2032G>A (p.Gly678Ser)
c.2131G>A (p.Gly711Ser)
 ClinVar dbSNP gnomAD v4
2g.188999479G>CCA349840553COL3A1c.2032G>C (p.Gly678Arg)
c.2131G>C (p.Gly711Arg)
2g.188999479G=CA1315400975COL3A1c.2032G= (p.Gly678=)
c.2131G= (p.Gly711=)
2g.188999479G>TCA349840554COL3A1c.2032G>T (p.Gly678Cys)
c.2131G>T (p.Gly711Cys)
2g.188999480G>ACA349840556COL3A1c.2033G>A (p.Gly678Asp)
c.2132G>A (p.Gly711Asp)
2g.188999480G>CCA349840558COL3A1c.2033G>C (p.Gly678Ala)
c.2132G>C (p.Gly711Ala)
2g.188999480G=CA1315400976COL3A1c.2033G= (p.Gly678=)
c.2132G= (p.Gly711=)
2g.188999480G>TCA005086COL3A1c.2033G>T (p.Gly678Val)
c.2132G>T (p.Gly711Val)
 ClinVar dbSNP
2g.188999481T>ACA430310592COL3A1c.2034T>A (p.Gly678=)
c.2133T>A (p.Gly711=)
2g.188999481T>CCA430310593COL3A1c.2034T>C (p.Gly678=)
c.2133T>C (p.Gly711=)
2g.188999481T>GCA430310594COL3A1c.2034T>G (p.Gly678=)
c.2133T>G (p.Gly711=)
2g.188999482C>ACA349840561COL3A1c.2035C>A (p.Pro679Thr)
c.2134C>A (p.Pro712Thr)
2g.188999482C=CA1315400978COL3A1c.2035C= (p.Pro679=)
c.2134C= (p.Pro712=)
2g.188999482C>GCA349840563COL3A1c.2035C>G (p.Pro679Ala)
c.2134C>G (p.Pro712Ala)
 gnomAD v4
2g.188999482C>TCA349840564COL3A1c.2035C>T (p.Pro679Ser)
c.2134C>T (p.Pro712Ser)
 ClinVar dbSNP gnomAD v4
2g.188999482_188999509delinsCCTCCTGGGCCACCTGGTGCTGCTGGTACA1315400977COL3A1c.2035_2062delinsCCTCCTGGGCCACCTGGTGCTGCTGGTA (p.Pro679=)
c.2134_2161delinsCCTCCTGGGCCACCTGGTGCTGCTGGTA (p.Pro712=)
2g.188999483C>ACA349840566COL3A1c.2036C>A (p.Pro679His)
c.2135C>A (p.Pro712His)
2g.188999483C=CA1315400979COL3A1c.2036C= (p.Pro679=)
c.2135C= (p.Pro712=)
2g.188999483C>GCA349840567COL3A1c.2036C>G (p.Pro679Arg)
c.2135C>G (p.Pro712Arg)
2g.188999483C>TCA075033COL3A1c.2036C>T (p.Pro679Leu)
c.2135C>T (p.Pro712Leu)
 ClinVar dbSNP ExAC gnomAD v2
2g.188999490_188999516delCA005106COL3A1c.2043_2069del (p.Pro682_Gly690del)
c.2142_2168del (p.Pro715_Gly723del)
 ClinVar dbSNP
2g.188999484T>ACA430310595COL3A1c.2037T>A (p.Pro679=)
c.2136T>A (p.Pro712=)
 ClinVar dbSNP
2g.188999484T>CCA430310596COL3A1c.2037T>C (p.Pro679=)
c.2136T>C (p.Pro712=)
2g.188999484T>GCA430310597COL3A1c.2037T>G (p.Pro679=)
c.2136T>G (p.Pro712=)
2g.188999485C>ACA349840572COL3A1c.2038C>A (p.Pro680Thr)
c.2137C>A (p.Pro713Thr)
2g.188999485C=CA1315400980COL3A1c.2038C= (p.Pro680=)
c.2137C= (p.Pro713=)
2g.188999485C>GCA349840569COL3A1c.2038C>G (p.Pro680Ala)
c.2137C>G (p.Pro713Ala)
2g.188999485C>TCA075036COL3A1c.2038C>T (p.Pro680Ser)
c.2137C>T (p.Pro713Ser)
 dbSNP ExAC gnomAD v2
2g.188999486C>ACA349840575COL3A1c.2039C>A (p.Pro680His)
c.2138C>A (p.Pro713His)
2g.188999486C=CA1315400981COL3A1c.2039C= (p.Pro680=)
c.2138C= (p.Pro713=)
2g.188999486C>GCA349840576COL3A1c.2039C>G (p.Pro680Arg)
c.2138C>G (p.Pro713Arg)
2g.188999486C>TCA349840577COL3A1c.2039C>T (p.Pro680Leu)
c.2138C>T (p.Pro713Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188999487T>ACA430310598COL3A1c.2040T>A (p.Pro680=)
c.2139T>A (p.Pro713=)
2g.188999487T>CCA430310599COL3A1c.2040T>C (p.Pro680=)
c.2139T>C (p.Pro713=)
2g.188999487T>GCA430310600COL3A1c.2040T>G (p.Pro680=)
c.2139T>G (p.Pro713=)
2g.188999488G>ACA005093COL3A1c.2041G>A (p.Gly681Arg)
c.2140G>A (p.Gly714Arg)
 ClinVar dbSNP
2g.188999488G>CCA349840580COL3A1c.2041G>C (p.Gly681Arg)
c.2140G>C (p.Gly714Arg)
2g.188999488G=CA1315400982COL3A1c.2041G= (p.Gly681=)
c.2140G= (p.Gly714=)
2g.188999488G>TCA349840582COL3A1c.2041G>T (p.Gly681Trp)
c.2140G>T (p.Gly714Trp)
2g.188999489G>ACA005100COL3A1c.2042G>A (p.Gly681Glu)
c.2141G>A (p.Gly714Glu)
 ClinVar dbSNP gnomAD v4
2g.188999489G>CCA349840585COL3A1c.2042G>C (p.Gly681Ala)
c.2141G>C (p.Gly714Ala)
2g.188999489G=CA1315400983COL3A1c.2042G= (p.Gly681=)
c.2141G= (p.Gly714=)
2g.188999489G>TCA349840587COL3A1c.2042G>T (p.Gly681Val)
c.2141G>T (p.Gly714Val)
2g.188999490G>ACA075041COL3A1c.2043G>A (p.Gly681=)
c.2142G>A (p.Gly714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999490G>CCA430310601COL3A1c.2043G>C (p.Gly681=)
c.2142G>C (p.Gly714=)
2g.188999490G=CA1315400984COL3A1c.2043G= (p.Gly681=)
c.2142G= (p.Gly714=)
2g.188999490G>TCA430310602COL3A1c.2043G>T (p.Gly681=)
c.2142G>T (p.Gly714=)
2g.188999491C>ACA349840592COL3A1c.2044C>A (p.Pro682Thr)
c.2143C>A (p.Pro715Thr)
2g.188999491C>GCA349840591COL3A1c.2044C>G (p.Pro682Ala)
c.2143C>G (p.Pro715Ala)
2g.188999491C>TCA349840590COL3A1c.2044C>T (p.Pro682Ser)
c.2143C>T (p.Pro715Ser)
2g.188999492C>ACA349840593COL3A1c.2045C>A (p.Pro682Gln)
c.2144C>A (p.Pro715Gln)
2g.188999492C>GCA349840594COL3A1c.2045C>G (p.Pro682Arg)
c.2144C>G (p.Pro715Arg)
2g.188999492C>TCA349840595COL3A1c.2045C>T (p.Pro682Leu)
c.2144C>T (p.Pro715Leu)
 gnomAD v4
2g.188999493A>CCA430310605COL3A1c.2046A>C (p.Pro682=)
c.2145A>C (p.Pro715=)
 gnomAD v4
2g.188999493A>GCA430310604COL3A1c.2046A>G (p.Pro682=)
c.2145A>G (p.Pro715=)
2g.188999493A>TCA430310603COL3A1c.2046A>T (p.Pro682=)
c.2145A>T (p.Pro715=)
2g.188999494C>ACA349840596COL3A1c.2047C>A (p.Pro683Thr)
c.2146C>A (p.Pro716Thr)
2g.188999494C>GCA349840597COL3A1c.2047C>G (p.Pro683Ala)
c.2146C>G (p.Pro716Ala)
 gnomAD v4
2g.188999494C>TCA349840598COL3A1c.2047C>T (p.Pro683Ser)
c.2146C>T (p.Pro716Ser)
 ClinVar gnomAD v4
2g.188999495C>ACA349840599COL3A1c.2048C>A (p.Pro683His)
c.2147C>A (p.Pro716His)
2g.188999495C>GCA349840600COL3A1c.2048C>G (p.Pro683Arg)
c.2147C>G (p.Pro716Arg)
2g.188999495C>TCA349840601COL3A1c.2048C>T (p.Pro683Leu)
c.2147C>T (p.Pro716Leu)
2g.188999496T>ACA430310606COL3A1c.2049T>A (p.Pro683=)
c.2148T>A (p.Pro716=)
2g.188999496T>CCA075044COL3A1c.2049T>C (p.Pro683=)
c.2148T>C (p.Pro716=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999496T>GCA430310607COL3A1c.2049T>G (p.Pro683=)
c.2148T>G (p.Pro716=)
2g.188999496T=CA1315400985COL3A1c.2049T= (p.Pro683=)
c.2148T= (p.Pro716=)
2g.188999497G>ACA349840602COL3A1c.2050G>A (p.Gly684Ser)
c.2149G>A (p.Gly717Ser)
2g.188999497G>CCA349840603COL3A1c.2050G>C (p.Gly684Arg)
c.2149G>C (p.Gly717Arg)
 ClinVar
2g.188999497G=CA1315400986COL3A1c.2050G= (p.Gly684=)
c.2149G= (p.Gly717=)
2g.188999497G>TCA349840604COL3A1c.2050G>T (p.Gly684Cys)
c.2149G>T (p.Gly717Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.188999498G>ACA005121COL3A1c.2051G>A (p.Gly684Asp)
c.2150G>A (p.Gly717Asp)
 ClinVar dbSNP
2g.188999498G>CCA349840612COL3A1c.2051G>C (p.Gly684Ala)
c.2150G>C (p.Gly717Ala)
2g.188999498G=CA1315400987COL3A1c.2051G= (p.Gly684=)
c.2150G= (p.Gly717=)
2g.188999498G>TCA349840614COL3A1c.2051G>T (p.Gly684Val)
c.2150G>T (p.Gly717Val)
2g.188999499T>ACA430310610COL3A1c.2052T>A (p.Gly684=)
c.2151T>A (p.Gly717=)
2g.188999499T>CCA430310608COL3A1c.2052T>C (p.Gly684=)
c.2151T>C (p.Gly717=)
2g.188999499T>GCA430310609COL3A1c.2052T>G (p.Gly684=)
c.2151T>G (p.Gly717=)
2g.188999500G>ACA349840617COL3A1c.2053G>A (p.Ala685Thr)
c.2152G>A (p.Ala718Thr)
2g.188999500G>CCA349840619COL3A1c.2053G>C (p.Ala685Pro)
c.2152G>C (p.Ala718Pro)
2g.188999500G=CA1315400988COL3A1c.2053G= (p.Ala685=)
c.2152G= (p.Ala718=)
2g.188999500G>TCA075047COL3A1c.2053G>T (p.Ala685Ser)
c.2152G>T (p.Ala718Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999500_188999501delinsTTCA2499215537COL3A1c.2053_2054delinsTT (p.Ala685Phe)
c.2152_2153delinsTT (p.Ala718Phe)
 ClinVar dbSNP
2g.188999501C>ACA349840622COL3A1c.2054C>A (p.Ala685Asp)
c.2153C>A (p.Ala718Asp)
2g.188999501C=CA1315400989COL3A1c.2054C= (p.Ala685=)
c.2153C= (p.Ala718=)
2g.188999501C>GCA349840623COL3A1c.2054C>G (p.Ala685Gly)
c.2153C>G (p.Ala718Gly)
2g.188999501C>TCA075051COL3A1c.2054C>T (p.Ala685Val)
c.2153C>T (p.Ala718Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.188999502T>ACA430310611COL3A1c.2055T>A (p.Ala685=)
c.2154T>A (p.Ala718=)
2g.188999502T>CCA430310612COL3A1c.2055T>C (p.Ala685=)
c.2154T>C (p.Ala718=)
2g.188999502T>GCA430310613COL3A1c.2055T>G (p.Ala685=)
c.2154T>G (p.Ala718=)
2g.188999503G>ACA349840624COL3A1c.2056G>A (p.Ala686Thr)
c.2155G>A (p.Ala719Thr)
 ClinVar dbSNP gnomAD v4
2g.188999503G>CCA349840626COL3A1c.2056G>C (p.Ala686Pro)
c.2155G>C (p.Ala719Pro)
2g.188999503G=CA1315400990COL3A1c.2056G= (p.Ala686=)
c.2155G= (p.Ala719=)
2g.188999503G>TCA349840629COL3A1c.2056G>T (p.Ala686Ser)
c.2155G>T (p.Ala719Ser)
2g.188999504C>ACA349840633COL3A1c.2057C>A (p.Ala686Asp)
c.2156C>A (p.Ala719Asp)
2g.188999504C=CA1315400991COL3A1c.2057C= (p.Ala686=)
c.2156C= (p.Ala719=)
2g.188999504C>GCA349840635COL3A1c.2057C>G (p.Ala686Gly)
c.2156C>G (p.Ala719Gly)
 ClinVar dbSNP
2g.188999504C>TCA349840639COL3A1c.2057C>T (p.Ala686Val)
c.2156C>T (p.Ala719Val)
2g.188999505T>ACA430310616COL3A1c.2058T>A (p.Ala686=)
c.2157T>A (p.Ala719=)
2g.188999505T>CCA430310614COL3A1c.2058T>C (p.Ala686=)
c.2157T>C (p.Ala719=)
2g.188999505T>GCA430310615COL3A1c.2058T>G (p.Ala686=)
c.2157T>G (p.Ala719=)
2g.188999506G>ACA349840643COL3A1c.2059G>A (p.Gly687Ser)
c.2158G>A (p.Gly720Ser)
2g.188999506G>CCA349840644COL3A1c.2059G>C (p.Gly687Arg)
c.2158G>C (p.Gly720Arg)
2g.188999506G>TCA349840642COL3A1c.2059G>T (p.Gly687Cys)
c.2158G>T (p.Gly720Cys)
2g.188999507G>ACA349840649COL3A1c.2060G>A (p.Gly687Asp)
c.2159G>A (p.Gly720Asp)
 ClinVar dbSNP
2g.188999507G>CCA349840645COL3A1c.2060G>C (p.Gly687Ala)
c.2159G>C (p.Gly720Ala)
2g.188999507G=CA1315400992COL3A1c.2060G= (p.Gly687=)
c.2159G= (p.Gly720=)
2g.188999507G>TCA349840647COL3A1c.2060G>T (p.Gly687Val)
c.2159G>T (p.Gly720Val)
2g.188999508delCA2662309048COL3A1c.2061del (p.Thr688LeufsTer?)
c.2160del (p.Thr721LeufsTer?)
 gnomAD v4
2g.188999508T>ACA430310617COL3A1c.2061T>A (p.Gly687=)
c.2160T>A (p.Gly720=)
2g.188999508T>CCA430310618COL3A1c.2061T>C (p.Gly687=)
c.2160T>C (p.Gly720=)
2g.188999508T>GCA430310619COL3A1c.2061T>G (p.Gly687=)
c.2160T>G (p.Gly720=)
2g.188999509A>CCA349840653COL3A1c.2062A>C (p.Thr688Pro)
c.2161A>C (p.Thr721Pro)
2g.188999509A>GCA349840655COL3A1c.2062A>G (p.Thr688Ala)
c.2161A>G (p.Thr721Ala)
2g.188999509A>TCA349840658COL3A1c.2062A>T (p.Thr688Ser)
c.2161A>T (p.Thr721Ser)
2g.188999510C>ACA349840665COL3A1c.2063C>A (p.Thr688Asn)
c.2162C>A (p.Thr721Asn)
2g.188999510C>GCA349840663COL3A1c.2063C>G (p.Thr688Ser)
c.2162C>G (p.Thr721Ser)
2g.188999510C>TCA349840660COL3A1c.2063C>T (p.Thr688Ile)
c.2162C>T (p.Thr721Ile)
2g.188999511T>ACA430310620COL3A1c.2064T>A (p.Thr688=)
c.2163T>A (p.Thr721=)
2g.188999511T>CCA430310621COL3A1c.2064T>C (p.Thr688=)
c.2163T>C (p.Thr721=)
2g.188999511T>GCA430310622COL3A1c.2064T>G (p.Thr688=)
c.2163T>G (p.Thr721=)
2g.188999512C>ACA349840667COL3A1c.2065C>A (p.Pro689Thr)
c.2164C>A (p.Pro722Thr)
 gnomAD v4
2g.188999512C>GCA349840669COL3A1c.2065C>G (p.Pro689Ala)
c.2164C>G (p.Pro722Ala)
2g.188999512C>TCA349840671COL3A1c.2065C>T (p.Pro689Ser)
c.2164C>T (p.Pro722Ser)
2g.188999513C>ACA349840676COL3A1c.2066C>A (p.Pro689His)
c.2165C>A (p.Pro722His)
2g.188999513C>GCA349840677COL3A1c.2066C>G (p.Pro689Arg)
c.2165C>G (p.Pro722Arg)
2g.188999513C>TCA349840680COL3A1c.2066C>T (p.Pro689Leu)
c.2165C>T (p.Pro722Leu)
2g.188999514T>ACA430310623COL3A1c.2067T>A (p.Pro689=)
c.2166T>A (p.Pro722=)
2g.188999514T>CCA430310624COL3A1c.2067T>C (p.Pro689=)
c.2166T>C (p.Pro722=)
2g.188999514T>GCA430310625COL3A1c.2067T>G (p.Pro689=)
c.2166T>G (p.Pro722=)
2g.188999515G>ACA349840686COL3A1c.2068G>A (p.Gly690Ser)
c.2167G>A (p.Gly723Ser)
2g.188999515G>CCA349840691COL3A1c.2068G>C (p.Gly690Arg)
c.2167G>C (p.Gly723Arg)
2g.188999515G>TCA349840688COL3A1c.2068G>T (p.Gly690Cys)
c.2167G>T (p.Gly723Cys)
2g.188999516G>ACA005131COL3A1c.2069G>A (p.Gly690Asp)
c.2168G>A (p.Gly723Asp)
 ClinVar dbSNP
2g.188999516G>CCA349840694COL3A1c.2069G>C (p.Gly690Ala)
c.2168G>C (p.Gly723Ala)
2g.188999516G=CA1315400993COL3A1c.2069G= (p.Gly690=)
c.2168G= (p.Gly723=)
2g.188999516G>TCA349840696COL3A1c.2069G>T (p.Gly690Val)
c.2168G>T (p.Gly723Val)
2g.188999517T>ACA430310626COL3A1c.2070T>A (p.Gly690=)
c.2169T>A (p.Gly723=)
2g.188999517T>CCA430310627COL3A1c.2070T>C (p.Gly690=)
c.2169T>C (p.Gly723=)
2g.188999517T>GCA430310628COL3A1c.2070T>G (p.Gly690=)
c.2169T>G (p.Gly723=)
2g.188999518C>ACA349840698COL3A1c.2071C>A (p.Leu691Met)
c.2170C>A (p.Leu724Met)
2g.188999518C>GCA349840700COL3A1c.2071C>G (p.Leu691Val)
c.2170C>G (p.Leu724Val)
2g.188999518C>TCA430310629COL3A1c.2071C>T (p.Leu691=)
c.2170C>T (p.Leu724=)
2g.188999519T>ACA349840703COL3A1c.2072T>A (p.Leu691Gln)
c.2171T>A (p.Leu724Gln)
2g.188999519T>CCA349840705COL3A1c.2072T>C (p.Leu691Pro)
c.2171T>C (p.Leu724Pro)
2g.188999519T>GCA349840707COL3A1c.2072T>G (p.Leu691Arg)
c.2171T>G (p.Leu724Arg)
2g.188999520G>ACA430310630COL3A1c.2073G>A (p.Leu691=)
c.2172G>A (p.Leu724=)
 dbSNP gnomAD v4
2g.188999520G>CCA430310631COL3A1c.2073G>C (p.Leu691=)
c.2172G>C (p.Leu724=)
2g.188999520G=CA1315400994COL3A1c.2073G= (p.Leu691=)
c.2172G= (p.Leu724=)
2g.188999520G>TCA430310632COL3A1c.2073G>T (p.Leu691=)
c.2172G>T (p.Leu724=)
 gnomAD v4
2g.188999521C>ACA349840711COL3A1c.2074C>A (p.Gln692Lys)
c.2173C>A (p.Gln725Lys)
2g.188999521C>GCA349840713COL3A1c.2074C>G (p.Gln692Glu)
c.2173C>G (p.Gln725Glu)
2g.188999521C>TCA349840715COL3A1c.2074C>T (p.Gln692Ter)
c.2173C>T (p.Gln725Ter)
2g.188999522A>CCA349840721COL3A1c.2075A>C (p.Gln692Pro)
c.2174A>C (p.Gln725Pro)
 gnomAD v4
2g.188999522A>GCA349840720COL3A1c.2075A>G (p.Gln692Arg)
c.2174A>G (p.Gln725Arg)
2g.188999522A>TCA349840717COL3A1c.2075A>T (p.Gln692Leu)
c.2174A>T (p.Gln725Leu)
2g.188999523A=CA1315400995COL3A1c.2076A= (p.Gln692=)
c.2175A= (p.Gln725=)
2g.188999523A>CCA349840723COL3A1c.2076A>C (p.Gln692His)
c.2175A>C (p.Gln725His)
2g.188999523A>GCA62554653COL3A1c.2076A>G (p.Gln692=)
c.2175A>G (p.Gln725=)
 dbSNP
2g.188999523A>TCA349840725COL3A1c.2076A>T (p.Gln692His)
c.2175A>T (p.Gln725His)
2g.188999524G>ACA005140COL3A1c.2077G>A (p.Gly693Arg)
c.2176G>A (p.Gly726Arg)
 ClinVar dbSNP
2g.188999524G>CCA349840728COL3A1c.2077G>C (p.Gly693Arg)
c.2176G>C (p.Gly726Arg)
2g.188999524G=CA1315400996COL3A1c.2077G= (p.Gly693=)
c.2176G= (p.Gly726=)
2g.188999524G>TCA349840732COL3A1c.2077G>T (p.Gly693Ter)
c.2176G>T (p.Gly726Ter)
2g.188999525G>ACA005149COL3A1c.2078G>A (p.Gly693Glu)
c.2177G>A (p.Gly726Glu)
 ClinVar dbSNP COSMIC COSMIC
2g.188999525G>CCA349840736COL3A1c.2078G>C (p.Gly693Ala)
c.2177G>C (p.Gly726Ala)
2g.188999525G=CA1315400997COL3A1c.2078G= (p.Gly693=)
c.2177G= (p.Gly726=)
2g.188999525G>TCA349840738COL3A1c.2078G>T (p.Gly693Val)
c.2177G>T (p.Gly726Val)
2g.188999526A>CCA430310633COL3A1c.2079A>C (p.Gly693=)
c.2178A>C (p.Gly726=)
2g.188999526A>GCA430310635COL3A1c.2079A>G (p.Gly693=)
c.2178A>G (p.Gly726=)
2g.188999526A>TCA430310634COL3A1c.2079A>T (p.Gly693=)
c.2178A>T (p.Gly726=)
2g.188999527A>CCA349840739COL3A1c.2080A>C (p.Met694Leu)
c.2179A>C (p.Met727Leu)
2g.188999527A>GCA349840740COL3A1c.2080A>G (p.Met694Val)
c.2179A>G (p.Met727Val)
2g.188999527A>TCA349840741COL3A1c.2080A>T (p.Met694Leu)
c.2179A>T (p.Met727Leu)
2g.188999528T>ACA349840743COL3A1c.2081T>A (p.Met694Lys)
c.2180T>A (p.Met727Lys)
2g.188999528T>CCA349840745COL3A1c.2081T>C (p.Met694Thr)
c.2180T>C (p.Met727Thr)
2g.188999528T>GCA349840746COL3A1c.2081T>G (p.Met694Arg)
c.2180T>G (p.Met727Arg)
2g.188999529G>ACA349840754COL3A1c.2082G>A (p.Met694Ile)
c.2181G>A (p.Met727Ile)
 ClinVar dbSNP
2g.188999529G>CCA349840752COL3A1c.2082G>C (p.Met694Ile)
c.2181G>C (p.Met727Ile)
2g.188999529G>TCA349840750COL3A1c.2082G>T (p.Met694Ile)
c.2181G>T (p.Met727Ile)
 gnomAD v4
2g.188999529_188999530delinsGCCA1315400998COL3A1c.2082_2083delinsGC (p.Met694=)
c.2181_2182delinsGC (p.Met727=)
2g.188999530C>ACA349840755COL3A1c.2083C>A (p.Pro695Thr)
c.2182C>A (p.Pro728Thr)
2g.188999530C>GCA349840757COL3A1c.2083C>G (p.Pro695Ala)
c.2182C>G (p.Pro728Ala)
2g.188999530C>TCA349840759COL3A1c.2083C>T (p.Pro695Ser)
c.2182C>T (p.Pro728Ser)
2g.188999531delCA1315400999COL3A1c.2084del (p.Pro695LeufsTer?)
c.2183del (p.Pro728LeufsTer?)
 dbSNP
2g.188999531C>ACA349840762COL3A1c.2084C>A (p.Pro695His)
c.2183C>A (p.Pro728His)
2g.188999531C>GCA349840764COL3A1c.2084C>G (p.Pro695Arg)
c.2183C>G (p.Pro728Arg)
2g.188999531C>TCA349840765COL3A1c.2084C>T (p.Pro695Leu)
c.2183C>T (p.Pro728Leu)
2g.188999532T>ACA430310637COL3A1c.2085T>A (p.Pro695=)
c.2184T>A (p.Pro728=)
2g.188999532T>CCA430310639COL3A1c.2085T>C (p.Pro695=)
c.2184T>C (p.Pro728=)
2g.188999532T>GCA430310641COL3A1c.2085T>G (p.Pro695=)
c.2184T>G (p.Pro728=)
2g.188999533G>ACA005157COL3A1c.2086G>A (p.Gly696Arg)
c.2185G>A (p.Gly729Arg)
 ClinVar dbSNP
2g.188999533G>CCA349840767COL3A1c.2086G>C (p.Gly696Arg)
c.2185G>C (p.Gly729Arg)
2g.188999533G=CA1315401000COL3A1c.2086G= (p.Gly696=)
c.2185G= (p.Gly729=)
2g.188999533G>TCA349840769COL3A1c.2086G>T (p.Gly696Ter)
c.2185G>T (p.Gly729Ter)
2g.188999534G>ACA005164COL3A1c.2087G>A (p.Gly696Glu)
c.2186G>A (p.Gly729Glu)
 ClinVar dbSNP
2g.188999534G>CCA349840773COL3A1c.2087G>C (p.Gly696Ala)
c.2186G>C (p.Gly729Ala)
 ClinVar
2g.188999534G=CA1315401001COL3A1c.2087G= (p.Gly696=)
c.2186G= (p.Gly729=)
2g.188999534G>TCA349840774COL3A1c.2087G>T (p.Gly696Val)
c.2186G>T (p.Gly729Val)
2g.188999535delCA2586965489COL3A1c.2088del (p.Glu697LysfsTer?)
c.2187del (p.Glu730LysfsTer?)
2g.188999535A=CA1315401002COL3A1c.2088A= (p.Gly696=)
c.2187A= (p.Gly729=)
2g.188999535A>CCA430310642COL3A1c.2088A>C (p.Gly696=)
c.2187A>C (p.Gly729=)
2g.188999535A>GCA075059COL3A1c.2088A>G (p.Gly696=)
c.2187A>G (p.Gly729=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999535A>TCA430310644COL3A1c.2088A>T (p.Gly696=)
c.2187A>T (p.Gly729=)

Number of alleles fetched