Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999375_188999385delinsGGAGGAAAGGTCA1315400916COL3A1c.2014_2022+2delinsGGAGGAAAGGT
c.2113_2121+2delinsGGAGGAAAGGT
2g.188999376_188999385delCA1139657564COL3A1c.2015_2022+2del
c.2114_2121+2del
 ClinVar dbSNP
2g.188999376_188999387delinsCTCA2586965483COL3A1c.2015_2022+4delinsCT
c.2114_2121+4delinsCT
2g.188999378G>ACA349840414COL3A1c.2017G>A (p.Gly673Arg)
c.2116G>A (p.Gly706Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.188999378G>CCA349840417COL3A1c.2017G>C (p.Gly673Arg)
c.2116G>C (p.Gly706Arg)
2g.188999378G=CA1315400919COL3A1c.2017G= (p.Gly673=)
c.2116G= (p.Gly706=)
2g.188999378G>TCA349840420COL3A1c.2017G>T (p.Gly673Ter)
c.2116G>T (p.Gly706Ter)
2g.188999379G>ACA349840423COL3A1c.2018G>A (p.Gly673Glu)
c.2117G>A (p.Gly706Glu)
 ClinVar dbSNP gnomAD v4
2g.188999379G>CCA349840424COL3A1c.2018G>C (p.Gly673Ala)
c.2117G>C (p.Gly706Ala)
2g.188999379G=CA1315400920COL3A1c.2018G= (p.Gly673=)
c.2117G= (p.Gly706=)
2g.188999379G>TCA349840425COL3A1c.2018G>T (p.Gly673Val)
c.2117G>T (p.Gly706Val)
2g.188999380A>CCA430310578COL3A1c.2019A>C (p.Gly673=)
c.2118A>C (p.Gly706=)
2g.188999380A>GCA430310579COL3A1c.2019A>G (p.Gly673=)
c.2118A>G (p.Gly706=)
2g.188999380A>TCA430310580COL3A1c.2019A>T (p.Gly673=)
c.2118A>T (p.Gly706=)
2g.188999381_188999394delCA2499215534COL3A1c.2020_2022+11del
c.2119_2121+11del
 ClinVar dbSNP
2g.188999381A>CCA349840427COL3A1c.2020A>C (p.Lys674Gln)
c.2119A>C (p.Lys707Gln)
2g.188999381A>GCA349840431COL3A1c.2020A>G (p.Lys674Glu)
c.2119A>G (p.Lys707Glu)
2g.188999381A>TCA349840433COL3A1c.2020A>T (p.Lys674Ter)
c.2119A>T (p.Lys707Ter)
2g.188999382A>CCA349840440COL3A1c.2021A>C (p.Lys674Thr)
c.2120A>C (p.Lys707Thr)
 gnomAD v4
2g.188999382A>GCA349840435COL3A1c.2021A>G (p.Lys674Arg)
c.2120A>G (p.Lys707Arg)
2g.188999382A>TCA349840437COL3A1c.2021A>T (p.Lys674Met)
c.2120A>T (p.Lys707Met)
2g.188999385_188999470delCA2753572428COL3A1c.2022+2_2023del
c.2121+2_2122del
2g.188999383G>ACA430310581COL3A1c.2022G>A (p.Lys674=)
c.2121G>A (p.Lys707=)
2g.188999383G>CCA349840443COL3A1c.2022G>C (p.Lys674Asn)
c.2121G>C (p.Lys707Asn)
2g.188999383G>TCA349840446COL3A1c.2022G>T (p.Lys674Asn)
c.2121G>T (p.Lys707Asn)
2g.188999384G>ACA349840450COL3A1c.2022+1G>A (n.2022+1G>A)
c.2121+1G>A (n.2121+1G>A)
2g.188999384G>CCA005049COL3A1c.2022+1G>C (n.2022+1G>C)
c.2121+1G>C (n.2121+1G>C)
 ClinVar dbSNP
2g.188999384G=CA1315400921COL3A1c.2022+1G= (n.2022+1G=)
c.2121+1G= (n.2121+1G=)
2g.188999384G>TCA349840454COL3A1c.2022+1G>T (n.2022+1G>T)
c.2121+1G>T (n.2121+1G>T)
2g.188999385T>ACA349840455COL3A1c.2022+2T>A (n.2022+2T>A)
c.2121+2T>A (n.2121+2T>A)
2g.188999385T>CCA349840456COL3A1c.2022+2T>C (n.2022+2T>C)
c.2121+2T>C (n.2121+2T>C)
2g.188999385T>GCA349840459COL3A1c.2022+2T>G (n.2022+2T>G)
c.2121+2T>G (n.2121+2T>G)
2g.188999385T=CA1315400922COL3A1c.2022+2T= (n.2022+2T=)
c.2121+2T= (n.2121+2T=)
2g.188999387dupCA1040409808COL3A1c.2022+4dup (n.2022+4dup)
c.2121+4dup (n.2121+4dup)
 dbSNP gnomAD v3 gnomAD v4
2g.188999387delCA2499215535COL3A1c.2022+4del (n.2022+4del)
c.2121+4del (n.2121+4del)
 ClinVar dbSNP gnomAD v4
2g.188999388C=CA1315400923COL3A1c.2022+5C= (n.2022+5C=)
c.2121+5C= (n.2121+5C=)
2g.188999388C>GCA075010COL3A1c.2022+5C>G (n.2022+5C>G)
c.2121+5C>G (n.2121+5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999389T>GCA2662309032COL3A1c.2022+6T>G (n.2022+6T>G)
c.2121+6T>G (n.2121+6T>G)
 gnomAD v4
2g.188999390C>TCA2662309033COL3A1c.2022+7C>T (n.2022+7C>T)
c.2121+7C>T (n.2121+7C>T)
 gnomAD v4
2g.188999392A>GCA2662309034COL3A1c.2022+9A>G (n.2022+9A>G)
c.2121+9A>G (n.2121+9A>G)
 gnomAD v4
2g.188999393C>ACA2662309035COL3A1c.2022+10C>A (n.2022+10C>A)
c.2121+10C>A (n.2121+10C>A)
 gnomAD v4
2g.188999393C=CA1315400924COL3A1c.2022+10C= (n.2022+10C=)
c.2121+10C= (n.2121+10C=)
2g.188999393C>TCA074990COL3A1c.2022+10C>T (n.2022+10C>T)
c.2121+10C>T (n.2121+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999394A=CA1315400925COL3A1c.2022+11A= (n.2022+11A=)
c.2121+11A= (n.2121+11A=)
2g.188999394A>GCA1315400926COL3A1c.2022+11A>G (n.2022+11A>G)
c.2121+11A>G (n.2121+11A>G)
 dbSNP gnomAD v4
2g.188999395G>ACA1315400928COL3A1c.2022+12G>A (n.2022+12G>A)
c.2121+12G>A (n.2121+12G>A)
 dbSNP
2g.188999395G=CA1315400927COL3A1c.2022+12G= (n.2022+12G=)
c.2121+12G= (n.2121+12G=)
2g.188999396C>ACA2662309036COL3A1c.2022+13C>A (n.2022+13C>A)
c.2121+13C>A (n.2121+13C>A)
 gnomAD v4
2g.188999396C=CA1315400929COL3A1c.2022+13C= (n.2022+13C=)
c.2121+13C= (n.2121+13C=)
2g.188999396C>GCA1315400930COL3A1c.2022+13C>G (n.2022+13C>G)
c.2121+13C>G (n.2121+13C>G)
 dbSNP
2g.188999396C>TCA1315400931COL3A1c.2022+13C>T (n.2022+13C>T)
c.2121+13C>T (n.2121+13C>T)
 ClinVar dbSNP gnomAD v4
2g.188999400C>ACA430310582COL3A1c.2022+17C>A (n.2022+17C>A)
c.2121+17C>A (n.2121+17C>A)
 gnomAD v4
2g.188999401C>ACA005041COL3A1c.2022+18C>A (n.2022+18C>A)
c.2121+18C>A (n.2121+18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999401C=CA1315400932COL3A1c.2022+18C= (n.2022+18C=)
c.2121+18C= (n.2121+18C=)
2g.188999402A=CA1315400933COL3A1c.2022+19A= (n.2022+19A=)
c.2121+19A= (n.2121+19A=)
2g.188999402A>GCA074995COL3A1c.2022+19A>G (n.2022+19A>G)
c.2121+19A>G (n.2121+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999406A>GCA2662309037COL3A1c.2022+23A>G (n.2022+23A>G)
c.2121+23A>G (n.2121+23A>G)
 gnomAD v4
2g.188999407C=CA1315400934COL3A1c.2022+24C= (n.2022+24C=)
c.2121+24C= (n.2121+24C=)
2g.188999407C>GCA538467217COL3A1c.2022+24C>G (n.2022+24C>G)
c.2121+24C>G (n.2121+24C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.188999407C>TCA62554515COL3A1c.2022+24C>T (n.2022+24C>T)
c.2121+24C>T (n.2121+24C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.188999408C=CA1315400935COL3A1c.2022+25C= (n.2022+25C=)
c.2121+25C= (n.2121+25C=)
2g.188999408C>TCA762200175COL3A1c.2022+25C>T (n.2022+25C>T)
c.2121+25C>T (n.2121+25C>T)
 dbSNP gnomAD v4
2g.188999410_188999426delCA2662309038COL3A1c.2022+27_2023-44del (n.2022+27_2023-44del)
c.2121+27_2122-44del (n.2121+27_2122-44del)
 gnomAD v4
2g.188999410A>CCA2662309039COL3A1c.2022+27A>C (n.2022+27A>C)
c.2121+27A>C (n.2121+27A>C)
 gnomAD v4
2g.188999410A>GCA2577185635COL3A1c.2022+27A>G (n.2022+27A>G)
c.2121+27A>G (n.2121+27A>G)
 gnomAD v4
2g.188999411G>ACA074997COL3A1c.2022+28G>A (n.2022+28G>A)
c.2121+28G>A (n.2121+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999411G>CCA075000COL3A1c.2022+28G>C (n.2022+28G>C)
c.2121+28G>C (n.2121+28G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999411G=CA1315400936COL3A1c.2022+28G= (n.2022+28G=)
c.2121+28G= (n.2121+28G=)
2g.188999412G>ACA075003COL3A1c.2022+29G>A (n.2022+29G>A)
c.2121+29G>A (n.2121+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999412G=CA1315400937COL3A1c.2022+29G= (n.2022+29G=)
c.2121+29G= (n.2121+29G=)
2g.188999412G>TCA538467220COL3A1c.2022+29G>T (n.2022+29G>T)
c.2121+29G>T (n.2121+29G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999415T>ACA2662309040COL3A1c.2022+32T>A (n.2022+32T>A)
c.2121+32T>A (n.2121+32T>A)
 gnomAD v4
2g.188999415_188999416delinsTACA1315400938COL3A1c.2022+32_2022+33delinsTA (n.2022+32_2022+33delinsTA)
c.2121+32_2121+33delinsTA (n.2121+32_2121+33delinsTA)
2g.188999416A>TCA2577185636COL3A1c.2022+33A>T (n.2022+33A>T)
c.2121+33A>T (n.2121+33A>T)
2g.188999421dupCA2577185637COL3A1c.2022+38dup (n.2022+38dup)
c.2121+38dup (n.2121+38dup)
2g.188999421delCA1315400939COL3A1c.2022+38del (n.2022+38del)
c.2121+38del (n.2121+38del)
 dbSNP gnomAD v4
2g.188999420A>TCA2753572433COL3A1c.2022+37A>T (n.2022+37A>T)
c.2121+37A>T (n.2121+37A>T)
2g.188999423G>ACA538467221COL3A1c.2022+40G>A (n.2022+40G>A)
c.2121+40G>A (n.2121+40G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188999423G>CCA075005COL3A1c.2022+40G>C (n.2022+40G>C)
c.2121+40G>C (n.2121+40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188999423G=CA1315400940COL3A1c.2022+40G= (n.2022+40G=)
c.2121+40G= (n.2121+40G=)
2g.188999423_188999424insTAAATAACCA2529709614COL3A1c.2022+40_2022+41insTAAATAAC (n.2022+40_2022+41insTAAATAAC)
c.2121+40_2121+41insTAAATAAC (n.2121+40_2121+41insTAAATAAC)
2g.188999424C=CA1315400941COL3A1c.2022+41C= (n.2022+41C=)
c.2121+41C= (n.2121+41C=)
2g.188999424C>TCA075008COL3A1c.2022+41C>T (n.2022+41C>T)
c.2121+41C>T (n.2121+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188999425A>GCA2662309041COL3A1c.2022+42A>G (n.2022+42A>G)
c.2121+42A>G (n.2121+42A>G)
 gnomAD v4
2g.188999427T>ACA2550148193COL3A1c.2023-43T>A (n.2023-43T>A)
c.2122-43T>A (n.2122-43T>A)
2g.188999428T>CCA1315400943COL3A1c.2023-42T>C (n.2023-42T>C)
c.2122-42T>C (n.2122-42T>C)
 dbSNP gnomAD v4
2g.188999428T=CA1315400942COL3A1c.2023-42T= (n.2023-42T=)
c.2122-42T= (n.2122-42T=)
2g.188999429G=CA1315400944COL3A1c.2023-41G= (n.2023-41G=)
c.2122-41G= (n.2122-41G=)
2g.188999429G>TCA1315400945COL3A1c.2023-41G>T (n.2023-41G>T)
c.2122-41G>T (n.2122-41G>T)
 dbSNP
2g.188999431T>CCA1315400947COL3A1c.2023-39T>C (n.2023-39T>C)
c.2122-39T>C (n.2122-39T>C)
 dbSNP
2g.188999431T=CA1315400946COL3A1c.2023-39T= (n.2023-39T=)
c.2122-39T= (n.2122-39T=)
2g.188999432T>CCA1040409837COL3A1c.2023-38T>C (n.2023-38T>C)
c.2122-38T>C (n.2122-38T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.188999432T=CA1315400948COL3A1c.2023-38T= (n.2023-38T=)
c.2122-38T= (n.2122-38T=)
2g.188999434C>ACA2662309042COL3A1c.2023-36C>A (n.2023-36C>A)
c.2122-36C>A (n.2122-36C>A)
 gnomAD v4
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=)

Number of alleles fetched