Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188999894_189002903delCA2740096382COL3A1c.2183_2347-52del
c.2282_2446-52del
 ClinVar
2g.188999894_189002899delCA2740096383COL3A1c.2183_2347-56del
c.2282_2446-56del
 ClinVar
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189002225_189002232dupCA2662309502COL3A1c.2293-73_2293-66dup (n.2293-73_2293-66dup)
c.2392-73_2392-66dup (n.2392-73_2392-66dup)
 gnomAD v4
2g.189002227_189002234dupCA2662309510COL3A1c.2293-71_2293-64dup (n.2293-71_2293-64dup)
c.2392-71_2392-64dup (n.2392-71_2392-64dup)
 gnomAD v4
2g.189002228G>ACA2662309512COL3A1c.2293-70G>A (n.2293-70G>A)
c.2392-70G>A (n.2392-70G>A)
 gnomAD v4
2g.189002228G>CCA2662309513COL3A1c.2293-70G>C (n.2293-70G>C)
c.2392-70G>C (n.2392-70G>C)
 gnomAD v4
2g.189002229A=CA1315402215COL3A1c.2293-69A= (n.2293-69A=)
c.2392-69A= (n.2392-69A=)
2g.189002229A>GCA762202325COL3A1c.2293-69A>G (n.2293-69A>G)
c.2392-69A>G (n.2392-69A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189002229_189002239delinsATGACATTTCCCA1315402214COL3A1c.2293-69_2293-59delinsATGACATTTCC (n.2293-69_2293-59delinsATGACATTTCC)
c.2392-69_2392-59delinsATGACATTTCC (n.2392-69_2392-59delinsATGACATTTCC)
2g.189002230T>GCA2662309514COL3A1c.2293-68T>G (n.2293-68T>G)
c.2392-68T>G (n.2392-68T>G)
 gnomAD v4
2g.189002232_189002241delCA762202328COL3A1c.2293-66_2293-57del (n.2293-66_2293-57del)
c.2392-66_2392-57del (n.2392-66_2392-57del)
 dbSNP gnomAD v3 gnomAD v4
2g.189002232A>TCA2577185716COL3A1c.2293-66A>T (n.2293-66A>T)
c.2392-66A>T (n.2392-66A>T)
 gnomAD v4
2g.189002232_189002257delinsACATTTCCTGCCTAAAGGAGATGACGCA1315402216COL3A1c.2293-66_2293-41delinsACATTTCCTGCCTAAAGGAGATGACG (n.2293-66_2293-41delinsACATTTCCTGCCTAAAGGAGATGACG)
c.2392-66_2392-41delinsACATTTCCTGCCTAAAGGAGATGACG (n.2392-66_2392-41delinsACATTTCCTGCCTAAAGGAGATGACG)
2g.189002233C>ACA2577185717COL3A1c.2293-65C>A (n.2293-65C>A)
c.2392-65C>A (n.2392-65C>A)
 gnomAD v4
2g.189002233C>TCA2662309515COL3A1c.2293-65C>T (n.2293-65C>T)
c.2392-65C>T (n.2392-65C>T)
 gnomAD v4
2g.189002235_189002259delCA62555893COL3A1c.2293-63_2293-39del (n.2293-63_2293-39del)
c.2392-63_2392-39del (n.2392-63_2392-39del)
 dbSNP gnomAD v3 gnomAD v4
2g.189002234_189002235delinsATCA1315402217COL3A1c.2293-64_2293-63delinsAT (n.2293-64_2293-63delinsAT)
c.2392-64_2392-63delinsAT (n.2392-64_2392-63delinsAT)
2g.189002237delCA762202334COL3A1c.2293-61del (n.2293-61del)
c.2392-61del (n.2392-61del)
 dbSNP gnomAD v3 gnomAD v4
2g.189002237T>GCA2701314023COL3A1c.2293-61T>G (n.2293-61T>G)
c.2392-61T>G (n.2392-61T>G)
 dbSNP
2g.189002238C>ACA2577185718COL3A1c.2293-60C>A (n.2293-60C>A)
c.2392-60C>A (n.2392-60C>A)
 gnomAD v4
2g.189002238C>GCA2662309516COL3A1c.2293-60C>G (n.2293-60C>G)
c.2392-60C>G (n.2392-60C>G)
 gnomAD v4
2g.189002238C>TCA2577185719COL3A1c.2293-60C>T (n.2293-60C>T)
c.2392-60C>T (n.2392-60C>T)
2g.189002239C>GCA2662309517COL3A1c.2293-59C>G (n.2293-59C>G)
c.2392-59C>G (n.2392-59C>G)
 gnomAD v4
2g.189002241G>CCA2552595191COL3A1c.2293-57G>C (n.2293-57G>C)
c.2392-57G>C (n.2392-57G>C)
2g.189002241dupCA2577185720COL3A1c.2293-57dup (n.2293-57dup)
c.2392-57dup (n.2392-57dup)
 gnomAD v4
2g.189002242C=CA1315402218COL3A1c.2293-56C= (n.2293-56C=)
c.2392-56C= (n.2392-56C=)
2g.189002242C>TCA1315402219COL3A1c.2293-56C>T (n.2293-56C>T)
c.2392-56C>T (n.2392-56C>T)
 dbSNP gnomAD v4
2g.189002243C>ACA2662309518COL3A1c.2293-55C>A (n.2293-55C>A)
c.2392-55C>A (n.2392-55C>A)
 gnomAD v4
2g.189002243C=CA1315402220COL3A1c.2293-55C= (n.2293-55C=)
c.2392-55C= (n.2392-55C=)
2g.189002243C>GCA762202335COL3A1c.2293-55C>G (n.2293-55C>G)
c.2392-55C>G (n.2392-55C>G)
 dbSNP
2g.189002243C>TCA62555904COL3A1c.2293-55C>T (n.2293-55C>T)
c.2392-55C>T (n.2392-55C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189002245A>GCA2662309519COL3A1c.2293-53A>G (n.2293-53A>G)
c.2392-53A>G (n.2392-53A>G)
 gnomAD v4
2g.189002247delCA2577185721COL3A1c.2293-51del (n.2293-51del)
c.2392-51del (n.2392-51del)
2g.189002247A>CCA2577185722COL3A1c.2293-51A>C (n.2293-51A>C)
c.2392-51A>C (n.2392-51A>C)
2g.189002247A>GCA2662309520COL3A1c.2293-51A>G (n.2293-51A>G)
c.2392-51A>G (n.2392-51A>G)
 gnomAD v4
2g.189002248G>ACA2662309521COL3A1c.2293-50G>A (n.2293-50G>A)
c.2392-50G>A (n.2392-50G>A)
 gnomAD v4
2g.189002248G>CCA075301COL3A1c.2293-50G>C (n.2293-50G>C)
c.2392-50G>C (n.2392-50G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002248G=CA1315402221COL3A1c.2293-50G= (n.2293-50G=)
c.2392-50G= (n.2392-50G=)
2g.189002248G>TCA2577185723COL3A1c.2293-50G>T (n.2293-50G>T)
c.2392-50G>T (n.2392-50G>T)
2g.189002249G>CCA2577185724COL3A1c.2293-49G>C (n.2293-49G>C)
c.2392-49G>C (n.2392-49G>C)
2g.189002251G>CCA762202337COL3A1c.2293-47G>C (n.2293-47G>C)
c.2392-47G>C (n.2392-47G>C)
 dbSNP
2g.189002251G=CA1315402222COL3A1c.2293-47G= (n.2293-47G=)
c.2392-47G= (n.2392-47G=)
2g.189002253T>GCA075299COL3A1c.2293-45T>G (n.2293-45T>G)
c.2392-45T>G (n.2392-45T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002253T=CA1315402223COL3A1c.2293-45T= (n.2293-45T=)
c.2392-45T= (n.2392-45T=)
2g.189002254G>TCA2577185725COL3A1c.2293-44G>T (n.2293-44G>T)
c.2392-44G>T (n.2392-44G>T)
2g.189002255A=CA1315402224COL3A1c.2293-43A= (n.2293-43A=)
c.2392-43A= (n.2392-43A=)
2g.189002255A>GCA2577185726COL3A1c.2293-43A>G (n.2293-43A>G)
c.2392-43A>G (n.2392-43A>G)
2g.189002255A>TCA075297COL3A1c.2293-43A>T (n.2293-43A>T)
c.2392-43A>T (n.2392-43A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002256C>ACA2577185727COL3A1c.2293-42C>A (n.2293-42C>A)
c.2392-42C>A (n.2392-42C>A)
 gnomAD v4
2g.189002256C=CA1315402225COL3A1c.2293-42C= (n.2293-42C=)
c.2392-42C= (n.2392-42C=)
2g.189002256C>TCA075294COL3A1c.2293-42C>T (n.2293-42C>T)
c.2392-42C>T (n.2392-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002257G>ACA538448824COL3A1c.2293-41G>A (n.2293-41G>A)
c.2392-41G>A (n.2392-41G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002257G>CCA2662309522COL3A1c.2293-41G>C (n.2293-41G>C)
c.2392-41G>C (n.2392-41G>C)
 gnomAD v4
2g.189002257G=CA1315402226COL3A1c.2293-41G= (n.2293-41G=)
c.2392-41G= (n.2392-41G=)
2g.189002258C>ACA2577185728COL3A1c.2293-40C>A (n.2293-40C>A)
c.2392-40C>A (n.2392-40C>A)
 gnomAD v4
2g.189002258C>TCA2662309523COL3A1c.2293-40C>T (n.2293-40C>T)
c.2392-40C>T (n.2392-40C>T)
 gnomAD v4
2g.189002259A=CA1315402227COL3A1c.2293-39A= (n.2293-39A=)
c.2392-39A= (n.2392-39A=)
2g.189002259A>GCA075292COL3A1c.2293-39A>G (n.2293-39A>G)
c.2392-39A>G (n.2392-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002260C>ACA2662309525COL3A1c.2293-38C>A (n.2293-38C>A)
c.2392-38C>A (n.2392-38C>A)
 gnomAD v4
2g.189002260C>TCA2662309524COL3A1c.2293-38C>T (n.2293-38C>T)
c.2392-38C>T (n.2392-38C>T)
 gnomAD v4
2g.189002261A=CA1315402228COL3A1c.2293-37A= (n.2293-37A=)
c.2392-37A= (n.2392-37A=)
2g.189002261A>CCA538448825COL3A1c.2293-37A>C (n.2293-37A>C)
c.2392-37A>C (n.2392-37A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189002262C>ACA2662309526COL3A1c.2293-36C>A (n.2293-36C>A)
c.2392-36C>A (n.2392-36C>A)
 gnomAD v4
2g.189002263T>CCA2662309527COL3A1c.2293-35T>C (n.2293-35T>C)
c.2392-35T>C (n.2392-35T>C)
 gnomAD v4
2g.189002264T>ACA2753571832COL3A1c.2293-34T>A (n.2293-34T>A)
c.2392-34T>A (n.2392-34T>A)
2g.189002265C>ACA2577185729COL3A1c.2293-33C>A (n.2293-33C>A)
c.2392-33C>A (n.2392-33C>A)
 gnomAD v4
2g.189002266A=CA1315402229COL3A1c.2293-32A= (n.2293-32A=)
c.2392-32A= (n.2392-32A=)
2g.189002266A>GCA2662309528COL3A1c.2293-32A>G (n.2293-32A>G)
c.2392-32A>G (n.2392-32A>G)
 gnomAD v4
2g.189002266A>TCA075289COL3A1c.2293-32A>T (n.2293-32A>T)
c.2392-32A>T (n.2392-32A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002267C>ACA1040410744COL3A1c.2293-31C>A (n.2293-31C>A)
c.2392-31C>A (n.2392-31C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189002267C=CA1315402230COL3A1c.2293-31C= (n.2293-31C=)
c.2392-31C= (n.2392-31C=)
2g.189002267C>TCA2662309529COL3A1c.2293-31C>T (n.2293-31C>T)
c.2392-31C>T (n.2392-31C>T)
 gnomAD v4
2g.189002268T>ACA075285COL3A1c.2293-30T>A (n.2293-30T>A)
c.2392-30T>A (n.2392-30T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002268T>CCA1040410749COL3A1c.2293-30T>C (n.2293-30T>C)
c.2392-30T>C (n.2392-30T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189002268T>GCA075287COL3A1c.2293-30T>G (n.2293-30T>G)
c.2392-30T>G (n.2392-30T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002268T=CA1315402231COL3A1c.2293-30T= (n.2293-30T=)
c.2392-30T= (n.2392-30T=)
2g.189002269G>CCA1315402233COL3A1c.2293-29G>C (n.2293-29G>C)
c.2392-29G>C (n.2392-29G>C)
 dbSNP
2g.189002269G=CA1315402232COL3A1c.2293-29G= (n.2293-29G=)
c.2392-29G= (n.2392-29G=)
2g.189002273C>ACA2662309530COL3A1c.2293-25C>A (n.2293-25C>A)
c.2392-25C>A (n.2392-25C>A)
 gnomAD v4
2g.189002273C=CA1315402234COL3A1c.2293-25C= (n.2293-25C=)
c.2392-25C= (n.2392-25C=)
2g.189002273C>GCA538448826COL3A1c.2293-25C>G (n.2293-25C>G)
c.2392-25C>G (n.2392-25C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.189002274T>ACA075282COL3A1c.2293-24T>A (n.2293-24T>A)
c.2392-24T>A (n.2392-24T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002274T>GCA2662309531COL3A1c.2293-24T>G (n.2293-24T>G)
c.2392-24T>G (n.2392-24T>G)
 gnomAD v4
2g.189002274T=CA1315402235COL3A1c.2293-24T= (n.2293-24T=)
c.2392-24T= (n.2392-24T=)
2g.189002276delCA2577185730COL3A1c.2293-22del (n.2293-22del)
c.2392-22del (n.2392-22del)
2g.189002276A>GCA2662309532COL3A1c.2293-22A>G (n.2293-22A>G)
c.2392-22A>G (n.2392-22A>G)
 gnomAD v4
2g.189002277G>ACA075280COL3A1c.2293-21G>A (n.2293-21G>A)
c.2392-21G>A (n.2392-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189002277G>CCA538448827COL3A1c.2293-21G>C (n.2293-21G>C)
c.2392-21G>C (n.2392-21G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189002277G=CA1315402236COL3A1c.2293-21G= (n.2293-21G=)
c.2392-21G= (n.2392-21G=)
2g.189002278G>ACA647397757COL3A1c.2293-20G>A (n.2293-20G>A)
c.2392-20G>A (n.2392-20G>A)
 gnomAD v4 COSMIC
2g.189002278G>CCA2662309533COL3A1c.2293-20G>C (n.2293-20G>C)
c.2392-20G>C (n.2392-20G>C)
 gnomAD v4
2g.189002280G>ACA538448828COL3A1c.2293-18G>A (n.2293-18G>A)
c.2392-18G>A (n.2392-18G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189002280G>CCA2662309534COL3A1c.2293-18G>C (n.2293-18G>C)
c.2392-18G>C (n.2392-18G>C)
 gnomAD v4
2g.189002280G=CA1315402237COL3A1c.2293-18G= (n.2293-18G=)
c.2392-18G= (n.2392-18G=)
2g.189002281G>TCA2701314098COL3A1c.2293-17G>T (n.2293-17G>T)
c.2392-17G>T (n.2392-17G>T)
 dbSNP
2g.189002282A>CCA2573134197COL3A1c.2293-16A>C (n.2293-16A>C)
c.2392-16A>C (n.2392-16A>C)
 ClinVar dbSNP gnomAD v4
2g.189002284A=CA1315402238COL3A1c.2293-14A= (n.2293-14A=)
c.2392-14A= (n.2392-14A=)
2g.189002284A>CCA538448829COL3A1c.2293-14A>C (n.2293-14A>C)
c.2392-14A>C (n.2392-14A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189002284A>GCA2662309535COL3A1c.2293-14A>G (n.2293-14A>G)
c.2392-14A>G (n.2392-14A>G)
 gnomAD v4
2g.189002286T>GCA1315402240COL3A1c.2293-12T>G (n.2293-12T>G)
c.2392-12T>G (n.2392-12T>G)
 dbSNP
2g.189002286T=CA1315402239COL3A1c.2293-12T= (n.2293-12T=)
c.2392-12T= (n.2392-12T=)
2g.189002288T>CCA538448830COL3A1c.2293-10T>C (n.2293-10T>C)
c.2392-10T>C (n.2392-10T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189002288T=CA1315402241COL3A1c.2293-10T= (n.2293-10T=)
c.2392-10T= (n.2392-10T=)
2g.189002290C>ACA1139657565COL3A1c.2293-8C>A (n.2293-8C>A)
c.2392-8C>A (n.2392-8C>A)
 ClinVar dbSNP gnomAD v4
2g.189002290C=CA1315402242COL3A1c.2293-8C= (n.2293-8C=)
c.2392-8C= (n.2392-8C=)
2g.189002291T>CCA075304COL3A1c.2293-7T>C (n.2293-7T>C)
c.2392-7T>C (n.2392-7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002291T=CA1315402243COL3A1c.2293-7T= (n.2293-7T=)
c.2392-7T= (n.2392-7T=)
2g.189002292C>TCA2753571833COL3A1c.2293-6C>T (n.2293-6C>T)
c.2392-6C>T (n.2392-6C>T)
2g.189002294T>ACA2753571834COL3A1c.2293-4T>A (n.2293-4T>A)
c.2392-4T>A (n.2392-4T>A)
2g.189002294_189002301delinsTCAGGGTGCA1315402244COL3A1c.2293-4_2296delinsTCAGGGTG
c.2392-4_2395delinsTCAGGGTG
2g.189002295C>TCA2662309536COL3A1c.2293-3C>T (n.2293-3C>T)
c.2392-3C>T (n.2392-3C>T)
 gnomAD v4
2g.189002295_189002301delCA891842763COL3A1c.2293-3_2296del
c.2392-3_2395del
 ClinVar dbSNP
2g.189002296A=CA1315402245COL3A1c.2293-2A= (n.2293-2A=)
c.2392-2A= (n.2392-2A=)
2g.189002296A>CCA349842571COL3A1c.2293-2A>C (n.2293-2A>C)
c.2392-2A>C (n.2392-2A>C)
 ClinVar dbSNP
2g.189002296A>GCA349842570COL3A1c.2293-2A>G (n.2293-2A>G)
c.2392-2A>G (n.2392-2A>G)
2g.189002296A>TCA349842569COL3A1c.2293-2A>T (n.2293-2A>T)
c.2392-2A>T (n.2392-2A>T)
2g.189002297G>ACA349842572COL3A1c.2293-1G>A (n.2293-1G>A)
c.2392-1G>A (n.2392-1G>A)
2g.189002297G>CCA349842573COL3A1c.2293-1G>C (n.2293-1G>C)
c.2392-1G>C (n.2392-1G>C)
2g.189002297G>TCA349842574COL3A1c.2293-1G>T (n.2293-1G>T)
c.2392-1G>T (n.2392-1G>T)
2g.189002298G>ACA349842575COL3A1c.2293G>A (p.Gly765Ser)
c.2392G>A (p.Gly798Ser)
2g.189002298G>CCA349842576COL3A1c.2293G>C (p.Gly765Arg)
c.2392G>C (p.Gly798Arg)
2g.189002298G>TCA349842577COL3A1c.2293G>T (p.Gly765Cys)
c.2392G>T (p.Gly798Cys)
2g.189002299G>ACA349842578COL3A1c.2294G>A (p.Gly765Asp)
c.2393G>A (p.Gly798Asp)
 ClinVar dbSNP
2g.189002299G>CCA349842579COL3A1c.2294G>C (p.Gly765Ala)
c.2393G>C (p.Gly798Ala)
2g.189002299G>TCA349842580COL3A1c.2294G>T (p.Gly765Val)
c.2393G>T (p.Gly798Val)
2g.189002300T>ACA430311215COL3A1c.2295T>A (p.Gly765=)
c.2394T>A (p.Gly798=)
2g.189002300T>CCA10587536COL3A1c.2295T>C (p.Gly765=)
c.2394T>C (p.Gly798=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002300T>GCA430311216COL3A1c.2295T>G (p.Gly765=)
c.2394T>G (p.Gly798=)
 gnomAD v4
2g.189002300T=CA1315402246COL3A1c.2295T= (p.Gly765=)
c.2394T= (p.Gly798=)
2g.189002301G>ACA349842581COL3A1c.2296G>A (p.Glu766Lys)
c.2395G>A (p.Glu799Lys)
2g.189002301G>CCA349842582COL3A1c.2296G>C (p.Glu766Gln)
c.2395G>C (p.Glu799Gln)
2g.189002301G>TCA349842583COL3A1c.2296G>T (p.Glu766Ter)
c.2395G>T (p.Glu799Ter)
2g.189002304_189002307delCA2739277968COL3A1c.2299_2302del (p.Arg767ValfsTer?)
c.2398_2401del (p.Arg800ValfsTer?)
 ClinVar
2g.189002302A>CCA349842585COL3A1c.2297A>C (p.Glu766Ala)
c.2396A>C (p.Glu799Ala)
2g.189002302A>GCA349842586COL3A1c.2297A>G (p.Glu766Gly)
c.2396A>G (p.Glu799Gly)
2g.189002302A>TCA349842584COL3A1c.2297A>T (p.Glu766Val)
c.2396A>T (p.Glu799Val)
 ClinVar
2g.189002303G>ACA430311218COL3A1c.2298G>A (p.Glu766=)
c.2397G>A (p.Glu799=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189002303G>CCA349842587COL3A1c.2298G>C (p.Glu766Asp)
c.2397G>C (p.Glu799Asp)
2g.189002303G=CA1315402247COL3A1c.2298G= (p.Glu766=)
c.2397G= (p.Glu799=)
2g.189002303G>TCA349842588COL3A1c.2298G>T (p.Glu766Asp)
c.2397G>T (p.Glu799Asp)
2g.189002304A=CA1315402248COL3A1c.2299A= (p.Arg767=)
c.2398A= (p.Arg800=)
2g.189002304A>CCA430311221COL3A1c.2299A>C (p.Arg767=)
c.2398A>C (p.Arg800=)
2g.189002304A>GCA62555976COL3A1c.2299A>G (p.Arg767Gly)
c.2398A>G (p.Arg800Gly)
 dbSNP
2g.189002304A>TCA349842589COL3A1c.2299A>T (p.Arg767Ter)
c.2398A>T (p.Arg800Ter)
2g.189002305G>ACA62555977COL3A1c.2300G>A (p.Arg767Lys)
c.2399G>A (p.Arg800Lys)
 ClinVar dbSNP
2g.189002305G>CCA349842590COL3A1c.2300G>C (p.Arg767Thr)
c.2399G>C (p.Arg800Thr)
2g.189002305G=CA1315402249COL3A1c.2300G= (p.Arg767=)
c.2399G= (p.Arg800=)
2g.189002305G>TCA349842591COL3A1c.2300G>T (p.Arg767Ile)
c.2399G>T (p.Arg800Ile)
2g.189002306A>CCA349842592COL3A1c.2301A>C (p.Arg767Ser)
c.2400A>C (p.Arg800Ser)
2g.189002306A>GCA430311223COL3A1c.2301A>G (p.Arg767=)
c.2400A>G (p.Arg800=)
2g.189002306A>TCA349842593COL3A1c.2301A>T (p.Arg767Ser)
c.2400A>T (p.Arg800Ser)
2g.189002307G>ACA349842594COL3A1c.2302G>A (p.Gly768Ser)
c.2401G>A (p.Gly801Ser)
 gnomAD v4
2g.189002307G>CCA349842595COL3A1c.2302G>C (p.Gly768Arg)
c.2401G>C (p.Gly801Arg)
 COSMIC
2g.189002307G>TCA349842596COL3A1c.2302G>T (p.Gly768Cys)
c.2401G>T (p.Gly801Cys)
2g.189002308G>ACA005363COL3A1c.2303G>A (p.Gly768Asp)
c.2402G>A (p.Gly801Asp)
 ClinVar dbSNP
2g.189002308G>CCA349842597COL3A1c.2303G>C (p.Gly768Ala)
c.2402G>C (p.Gly801Ala)
2g.189002308G=CA1315402250COL3A1c.2303G= (p.Gly768=)
c.2402G= (p.Gly801=)
2g.189002308G>TCA349842598COL3A1c.2303G>T (p.Gly768Val)
c.2402G>T (p.Gly801Val)
2g.189002309T>ACA430311225COL3A1c.2304T>A (p.Gly768=)
c.2403T>A (p.Gly801=)
2g.189002309T>CCA430311226COL3A1c.2304T>C (p.Gly768=)
c.2403T>C (p.Gly801=)
 ClinVar
2g.189002309T>GCA430311227COL3A1c.2304T>G (p.Gly768=)
c.2403T>G (p.Gly801=)
 dbSNP
2g.189002309T=CA1315402251COL3A1c.2304T= (p.Gly768=)
c.2403T= (p.Gly801=)
2g.189002310G>ACA349842599COL3A1c.2305G>A (p.Glu769Lys)
c.2404G>A (p.Glu802Lys)
2g.189002310G>CCA349842600COL3A1c.2305G>C (p.Glu769Gln)
c.2404G>C (p.Glu802Gln)
2g.189002310G>TCA349842601COL3A1c.2305G>T (p.Glu769Ter)
c.2404G>T (p.Glu802Ter)
2g.189002311A>CCA349842602COL3A1c.2306A>C (p.Glu769Ala)
c.2405A>C (p.Glu802Ala)
2g.189002311A>GCA349842603COL3A1c.2306A>G (p.Glu769Gly)
c.2405A>G (p.Glu802Gly)
2g.189002311A>TCA349842604COL3A1c.2306A>T (p.Glu769Val)
c.2405A>T (p.Glu802Val)
2g.189002312A>CCA349842605COL3A1c.2307A>C (p.Glu769Asp)
c.2406A>C (p.Glu802Asp)
2g.189002312A>GCA430311228COL3A1c.2307A>G (p.Glu769=)
c.2406A>G (p.Glu802=)
 gnomAD v4
2g.189002312A>TCA349842606COL3A1c.2307A>T (p.Glu769Asp)
c.2406A>T (p.Glu802Asp)
2g.189002313A=CA1315402252COL3A1c.2308A= (p.Thr770=)
c.2407A= (p.Thr803=)
2g.189002313A>CCA349842607COL3A1c.2308A>C (p.Thr770Pro)
c.2407A>C (p.Thr803Pro)
2g.189002313A>GCA349842608COL3A1c.2308A>G (p.Thr770Ala)
c.2407A>G (p.Thr803Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189002313A>TCA349842609COL3A1c.2308A>T (p.Thr770Ser)
c.2407A>T (p.Thr803Ser)
2g.189002314C>ACA349842611COL3A1c.2309C>A (p.Thr770Asn)
c.2408C>A (p.Thr803Asn)
2g.189002314C>GCA349842612COL3A1c.2309C>G (p.Thr770Ser)
c.2408C>G (p.Thr803Ser)
2g.189002314C>TCA349842610COL3A1c.2309C>T (p.Thr770Ile)
c.2408C>T (p.Thr803Ile)
2g.189002315T>ACA430311231COL3A1c.2310T>A (p.Thr770=)
c.2409T>A (p.Thr803=)
2g.189002315T>CCA075313COL3A1c.2310T>C (p.Thr770=)
c.2409T>C (p.Thr803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189002315T>GCA430311233COL3A1c.2310T>G (p.Thr770=)
c.2409T>G (p.Thr803=)
2g.189002315T=CA1315402253COL3A1c.2310T= (p.Thr770=)
c.2409T= (p.Thr803=)
2g.189002316G>ACA005368COL3A1c.2311G>A (p.Gly771Ser)
c.2410G>A (p.Gly804Ser)
 ClinVar dbSNP
2g.189002316G>CCA349842613COL3A1c.2311G>C (p.Gly771Arg)
c.2410G>C (p.Gly804Arg)
2g.189002316G=CA1315402254COL3A1c.2311G= (p.Gly771=)
c.2410G= (p.Gly804=)
2g.189002316G>TCA349842614COL3A1c.2311G>T (p.Gly771Cys)
c.2410G>T (p.Gly804Cys)
 COSMIC
2g.189002317G>ACA349842615COL3A1c.2312G>A (p.Gly771Asp)
c.2411G>A (p.Gly804Asp)
2g.189002317G>CCA349842616COL3A1c.2312G>C (p.Gly771Ala)
c.2411G>C (p.Gly804Ala)
2g.189002317G>TCA16602223COL3A1c.2312G>T (p.Gly771Val)
c.2411G>T (p.Gly804Val)
 COSMIC
2g.189002318C>ACA430311234COL3A1c.2313C>A (p.Gly771=)
c.2412C>A (p.Gly804=)
2g.189002318C=CA1315402255COL3A1c.2313C= (p.Gly771=)
c.2412C= (p.Gly804=)
2g.189002318C>GCA430311236COL3A1c.2313C>G (p.Gly771=)
c.2412C>G (p.Gly804=)
2g.189002318C>TCA075316COL3A1c.2313C>T (p.Gly771=)
c.2412C>T (p.Gly804=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189002319C>ACA349842617COL3A1c.2314C>A (p.Pro772Thr)
c.2413C>A (p.Pro805Thr)
2g.189002319C>GCA349842618COL3A1c.2314C>G (p.Pro772Ala)
c.2413C>G (p.Pro805Ala)
2g.189002319C>TCA349842619COL3A1c.2314C>T (p.Pro772Ser)
c.2413C>T (p.Pro805Ser)
 gnomAD v4
2g.189002320C>ACA349842620COL3A1c.2315C>A (p.Pro772His)
c.2414C>A (p.Pro805His)
 gnomAD v4
2g.189002320C=CA1315402256COL3A1c.2315C= (p.Pro772=)
c.2414C= (p.Pro805=)
2g.189002320C>GCA349842621COL3A1c.2315C>G (p.Pro772Arg)
c.2414C>G (p.Pro805Arg)
 ClinVar dbSNP
2g.189002320C>TCA349842622COL3A1c.2315C>T (p.Pro772Leu)
c.2414C>T (p.Pro805Leu)
 gnomAD v4
2g.189002321T>ACA430311239COL3A1c.2316T>A (p.Pro772=)
c.2415T>A (p.Pro805=)
2g.189002321T>CCA430311241COL3A1c.2316T>C (p.Pro772=)
c.2415T>C (p.Pro805=)
 dbSNP gnomAD v2 gnomAD v4
2g.189002321T>GCA430311243COL3A1c.2316T>G (p.Pro772=)
c.2415T>G (p.Pro805=)
2g.189002321T=CA1315402257COL3A1c.2316T= (p.Pro772=)
c.2415T= (p.Pro805=)
2g.189002322C>ACA349842623COL3A1c.2317C>A (p.Pro773Thr)
c.2416C>A (p.Pro806Thr)
2g.189002322C=CA1315402258COL3A1c.2317C= (p.Pro773=)
c.2416C= (p.Pro806=)
2g.189002322C>GCA62556005COL3A1c.2317C>G (p.Pro773Ala)
c.2416C>G (p.Pro806Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189002322C>TCA62556012COL3A1c.2317C>T (p.Pro773Ser)
c.2416C>T (p.Pro806Ser)
 ClinVar dbSNP gnomAD v4
2g.189002323C>ACA349842624COL3A1c.2318C>A (p.Pro773Gln)
c.2417C>A (p.Pro806Gln)
2g.189002323C=CA1315402259COL3A1c.2318C= (p.Pro773=)
c.2417C= (p.Pro806=)
2g.189002323C>GCA349842625COL3A1c.2318C>G (p.Pro773Arg)
c.2417C>G (p.Pro806Arg)
 COSMIC COSMIC
2g.189002323C>TCA349842626COL3A1c.2318C>T (p.Pro773Leu)
c.2417C>T (p.Pro806Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189002324A>CCA430311246COL3A1c.2319A>C (p.Pro773=)
c.2418A>C (p.Pro806=)
2g.189002324A>GCA430311249COL3A1c.2319A>G (p.Pro773=)
c.2418A>G (p.Pro806=)
 ClinVar dbSNP
2g.189002324A>TCA430311247COL3A1c.2319A>T (p.Pro773=)
c.2418A>T (p.Pro806=)
2g.189002325G>ACA349842627COL3A1c.2320G>A (p.Gly774Arg)
c.2419G>A (p.Gly807Arg)
 ClinVar
2g.189002325G>CCA349842628COL3A1c.2320G>C (p.Gly774Arg)
c.2419G>C (p.Gly807Arg)
2g.189002325G>TCA349842629COL3A1c.2320G>T (p.Gly774Ter)
c.2419G>T (p.Gly807Ter)
2g.189002326G>ACA349842630COL3A1c.2321G>A (p.Gly774Glu)
c.2420G>A (p.Gly807Glu)
 COSMIC
2g.189002326G>CCA349842631COL3A1c.2321G>C (p.Gly774Ala)
c.2420G>C (p.Gly807Ala)
2g.189002326G>TCA349842632COL3A1c.2321G>T (p.Gly774Val)
c.2420G>T (p.Gly807Val)
2g.189002327A>CCA430311250COL3A1c.2322A>C (p.Gly774=)
c.2421A>C (p.Gly807=)
2g.189002327A>GCA430311252COL3A1c.2322A>G (p.Gly774=)
c.2421A>G (p.Gly807=)
2g.189002327A>TCA430311254COL3A1c.2322A>T (p.Gly774=)
c.2421A>T (p.Gly807=)
2g.189002328C>ACA349842633COL3A1c.2323C>A (p.Pro775Thr)
c.2422C>A (p.Pro808Thr)
 dbSNP
2g.189002328C=CA1315402260COL3A1c.2323C= (p.Pro775=)
c.2422C= (p.Pro808=)
2g.189002328C>GCA349842634COL3A1c.2323C>G (p.Pro775Ala)
c.2422C>G (p.Pro808Ala)
2g.189002328C>TCA349842635COL3A1c.2323C>T (p.Pro775Ser)
c.2422C>T (p.Pro808Ser)

Number of alleles fetched