Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189005611_189008365delCA913190217COL3A1c.2940+154_3426+223del
c.3039+154_3525+223del
c.2528-2443_2616+223del
 ClinVar
2g.189007840G>ACA1315404969COL3A1c.3265-45G>A (n.3265-45G>A)
c.3364-45G>A (n.3364-45G>A)
c.2528-214G>A (n.2528-214G>A)
 dbSNP gnomAD v4
2g.189007840G=CA1315404968COL3A1c.3265-45G= (n.3265-45G=)
c.3364-45G= (n.3364-45G=)
c.2528-214G= (n.2528-214G=)
2g.189007841C=CA1315404970COL3A1c.3265-44C= (n.3265-44C=)
c.3364-44C= (n.3364-44C=)
c.2528-213C= (n.2528-213C=)
2g.189007841C>TCA762208220COL3A1c.3265-44C>T (n.3265-44C>T)
c.3364-44C>T (n.3364-44C>T)
c.2528-213C>T (n.2528-213C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007846delCA2701312539COL3A1c.3265-39del (n.3265-39del)
c.3364-39del (n.3364-39del)
c.2528-208del (n.2528-208del)
 dbSNP
2g.189007843T>CCA2577185958COL3A1c.3265-42T>C (n.3265-42T>C)
c.3364-42T>C (n.3364-42T>C)
c.2528-211T>C (n.2528-211T>C)
2g.189007844T>CCA2753584179COL3A1c.3265-41T>C (n.3265-41T>C)
c.3364-41T>C (n.3364-41T>C)
c.2528-210T>C (n.2528-210T>C)
2g.189007845T>CCA076066COL3A1c.3265-40T>C (n.3265-40T>C)
c.3364-40T>C (n.3364-40T>C)
c.2528-209T>C (n.2528-209T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007845T=CA1315404971COL3A1c.3265-40T= (n.3265-40T=)
c.3364-40T= (n.3364-40T=)
c.2528-209T= (n.2528-209T=)
2g.189007846T>ACA1040413592COL3A1c.3265-39T>A (n.3265-39T>A)
c.3364-39T>A (n.3364-39T>A)
c.2528-208T>A (n.2528-208T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007846T=CA1315404972COL3A1c.3265-39T= (n.3265-39T=)
c.3364-39T= (n.3364-39T=)
c.2528-208T= (n.2528-208T=)
2g.189007848A>TCA2662310960COL3A1c.3265-37A>T (n.3265-37A>T)
c.3364-37A>T (n.3364-37A>T)
c.2528-206A>T (n.2528-206A>T)
 gnomAD v4
2g.189007849G=CA1315404974COL3A1c.3265-36G= (n.3265-36G=)
c.3364-36G= (n.3364-36G=)
c.2528-205G= (n.2528-205G=)
2g.189007849G>TCA1315404973COL3A1c.3265-36G>T (n.3265-36G>T)
c.3364-36G>T (n.3364-36G>T)
c.2528-205G>T (n.2528-205G>T)
 dbSNP
2g.189007851C>ACA1315404976COL3A1c.3265-34C>A (n.3265-34C>A)
c.3364-34C>A (n.3364-34C>A)
c.2528-203C>A (n.2528-203C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007851C=CA1315404975COL3A1c.3265-34C= (n.3265-34C=)
c.3364-34C= (n.3364-34C=)
c.2528-203C= (n.2528-203C=)
2g.189007851C>GCA538484832COL3A1c.3265-34C>G (n.3265-34C>G)
c.3364-34C>G (n.3364-34C>G)
c.2528-203C>G (n.2528-203C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007851C>TCA2662310961COL3A1c.3265-34C>T (n.3265-34C>T)
c.3364-34C>T (n.3364-34C>T)
c.2528-203C>T (n.2528-203C>T)
 gnomAD v4
2g.189007852C>TCA2577185960COL3A1c.3265-33C>T (n.3265-33C>T)
c.3364-33C>T (n.3364-33C>T)
c.2528-202C>T (n.2528-202C>T)
2g.189007855delCA2577185962COL3A1c.3265-30del (n.3265-30del)
c.3364-30del (n.3364-30del)
c.2528-199del (n.2528-199del)
2g.189007855C=CA1315404977COL3A1c.3265-30C= (n.3265-30C=)
c.3364-30C= (n.3364-30C=)
c.2528-199C= (n.2528-199C=)
2g.189007855C>GCA076064COL3A1c.3265-30C>G (n.3265-30C>G)
c.3364-30C>G (n.3364-30C>G)
c.2528-199C>G (n.2528-199C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007856A=CA1315404978COL3A1c.3265-29A= (n.3265-29A=)
c.3364-29A= (n.3364-29A=)
c.2528-198A= (n.2528-198A=)
2g.189007856A>GCA762208233COL3A1c.3265-29A>G (n.3265-29A>G)
c.3364-29A>G (n.3364-29A>G)
c.2528-198A>G (n.2528-198A>G)
 dbSNP gnomAD v4
2g.189007856A>TCA2753584180COL3A1c.3265-29A>T (n.3265-29A>T)
c.3364-29A>T (n.3364-29A>T)
c.2528-198A>T (n.2528-198A>T)
2g.189007857C=CA1315404979COL3A1c.3265-28C= (n.3265-28C=)
c.3364-28C= (n.3364-28C=)
c.2528-197C= (n.2528-197C=)
2g.189007857C>TCA076062COL3A1c.3265-28C>T (n.3265-28C>T)
c.3364-28C>T (n.3364-28C>T)
c.2528-197C>T (n.2528-197C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007858T>ACA076060COL3A1c.3265-27T>A (n.3265-27T>A)
c.3364-27T>A (n.3364-27T>A)
c.2528-196T>A (n.2528-196T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007858T=CA1315404980COL3A1c.3265-27T= (n.3265-27T=)
c.3364-27T= (n.3364-27T=)
c.2528-196T= (n.2528-196T=)
2g.189007859C=CA1315404981COL3A1c.3265-26C= (n.3265-26C=)
c.3364-26C= (n.3364-26C=)
c.2528-195C= (n.2528-195C=)
2g.189007859C>GCA1040413595COL3A1c.3265-26C>G (n.3265-26C>G)
c.3364-26C>G (n.3364-26C>G)
c.2528-195C>G (n.2528-195C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189007859C>TCA1315404982COL3A1c.3265-26C>T (n.3265-26C>T)
c.3364-26C>T (n.3364-26C>T)
c.2528-195C>T (n.2528-195C>T)
 dbSNP
2g.189007860C=CA1315404983COL3A1c.3265-25C= (n.3265-25C=)
c.3364-25C= (n.3364-25C=)
c.2528-194C= (n.2528-194C=)
2g.189007860C>GCA076058COL3A1c.3265-25C>G (n.3265-25C>G)
c.3364-25C>G (n.3364-25C>G)
c.2528-194C>G (n.2528-194C>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.189007860C>TCA762208244COL3A1c.3265-25C>T (n.3265-25C>T)
c.3364-25C>T (n.3364-25C>T)
c.2528-194C>T (n.2528-194C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007862A=CA1315404984COL3A1c.3265-23A= (n.3265-23A=)
c.3364-23A= (n.3364-23A=)
c.2528-192A= (n.2528-192A=)
2g.189007862A>GCA076055COL3A1c.3265-23A>G (n.3265-23A>G)
c.3364-23A>G (n.3364-23A>G)
c.2528-192A>G (n.2528-192A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007863T>CCA2577185966COL3A1c.3265-22T>C (n.3265-22T>C)
c.3364-22T>C (n.3364-22T>C)
c.2528-191T>C (n.2528-191T>C)
 gnomAD v4
2g.189007863T>GCA2662310962COL3A1c.3265-22T>G (n.3265-22T>G)
c.3364-22T>G (n.3364-22T>G)
c.2528-191T>G (n.2528-191T>G)
 gnomAD v4
2g.189007864G>ACA538484833COL3A1c.3265-21G>A (n.3265-21G>A)
c.3364-21G>A (n.3364-21G>A)
c.2528-190G>A (n.2528-190G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189007864G=CA1315404985COL3A1c.3265-21G= (n.3265-21G=)
c.3364-21G= (n.3364-21G=)
c.2528-190G= (n.2528-190G=)
2g.189007865T>CCA62561645COL3A1c.3265-20T>C (n.3265-20T>C)
c.3364-20T>C (n.3364-20T>C)
c.2528-189T>C (n.2528-189T>C)
 ClinVar dbSNP gnomAD v4
2g.189007865T=CA1315404986COL3A1c.3265-20T= (n.3265-20T=)
c.3364-20T= (n.3364-20T=)
c.2528-189T= (n.2528-189T=)
2g.189007866A>GCA2662310963COL3A1c.3265-19A>G (n.3265-19A>G)
c.3364-19A>G (n.3364-19A>G)
c.2528-188A>G (n.2528-188A>G)
 gnomAD v4
2g.189007867C>TCA2662310964COL3A1c.3265-18C>T (n.3265-18C>T)
c.3364-18C>T (n.3364-18C>T)
c.2528-187C>T (n.2528-187C>T)
 gnomAD v4
2g.189007868A=CA1315404987COL3A1c.3265-17A= (n.3265-17A=)
c.3364-17A= (n.3364-17A=)
c.2528-186A= (n.2528-186A=)
2g.189007868A>GCA538484834COL3A1c.3265-17A>G (n.3265-17A>G)
c.3364-17A>G (n.3364-17A>G)
c.2528-186A>G (n.2528-186A>G)
 dbSNP gnomAD v2
2g.189007869C>TCA2662310965COL3A1c.3265-16C>T (n.3265-16C>T)
c.3364-16C>T (n.3364-16C>T)
c.2528-185C>T (n.2528-185C>T)
 ClinVar gnomAD v4
2g.189007873C>TCA2739277975COL3A1c.3265-12C>T (n.3265-12C>T)
c.3364-12C>T (n.3364-12C>T)
c.2528-181C>T (n.2528-181C>T)
 ClinVar
2g.189007873_189007874delinsCTCA1315404988COL3A1c.3265-12_3265-11delinsCT (n.3265-12_3265-11delinsCT)
c.3364-12_3364-11delinsCT (n.3364-12_3364-11delinsCT)
c.2528-181_2528-180delinsCT (n.2528-181_2528-180delinsCT)
2g.189007876delCA1139657539COL3A1c.3265-9del (n.3265-9del)
c.3364-9del (n.3364-9del)
c.2528-178del (n.2528-178del)
 ClinVar dbSNP
2g.189007875T>ACA62561646COL3A1c.3265-10T>A (n.3265-10T>A)
c.3364-10T>A (n.3364-10T>A)
c.2528-179T>A (n.2528-179T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189007875T=CA1315404989COL3A1c.3265-10T= (n.3265-10T=)
c.3364-10T= (n.3364-10T=)
c.2528-179T= (n.2528-179T=)
2g.189007876T>GCA2573134203COL3A1c.3265-9T>G (n.3265-9T>G)
c.3364-9T>G (n.3364-9T>G)
c.2528-178T>G (n.2528-178T>G)
 ClinVar dbSNP gnomAD v4
2g.189007877C>ACA62561648COL3A1c.3265-8C>A (n.3265-8C>A)
c.3364-8C>A (n.3364-8C>A)
c.2528-177C>A (n.2528-177C>A)
 dbSNP
2g.189007877C=CA1315404990COL3A1c.3265-8C= (n.3265-8C=)
c.3364-8C= (n.3364-8C=)
c.2528-177C= (n.2528-177C=)
2g.189007877C>GCA62561653COL3A1c.3265-8C>G (n.3265-8C>G)
c.3364-8C>G (n.3364-8C>G)
c.2528-177C>G (n.2528-177C>G)
 ClinVar dbSNP
2g.189007877C>TCA076067COL3A1c.3265-8C>T (n.3265-8C>T)
c.3364-8C>T (n.3364-8C>T)
c.2528-177C>T (n.2528-177C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007879T>CCA62561672COL3A1c.3265-6T>C (n.3265-6T>C)
c.3364-6T>C (n.3364-6T>C)
c.2528-175T>C (n.2528-175T>C)
 ClinVar dbSNP
2g.189007879T=CA1315404991COL3A1c.3265-6T= (n.3265-6T=)
c.3364-6T= (n.3364-6T=)
c.2528-175T= (n.2528-175T=)
2g.189007881C=CA1315404992COL3A1c.3265-4C= (n.3265-4C=)
c.3364-4C= (n.3364-4C=)
c.2528-173C= (n.2528-173C=)
2g.189007881C>GCA2825001063COL3A1c.3265-4C>G (n.3265-4C>G)
c.3364-4C>G (n.3364-4C>G)
c.2528-173C>G (n.2528-173C>G)
 ClinVar
2g.189007881C>TCA538484835COL3A1c.3265-4C>T (n.3265-4C>T)
c.3364-4C>T (n.3364-4C>T)
c.2528-173C>T (n.2528-173C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189007882C>TCA2499215541COL3A1c.3265-3C>T (n.3265-3C>T)
c.3364-3C>T (n.3364-3C>T)
c.2528-172C>T (n.2528-172C>T)
 ClinVar dbSNP gnomAD v4
2g.189007883A=CA1315404993COL3A1c.3265-2A= (n.3265-2A=)
c.3364-2A= (n.3364-2A=)
c.2528-171A= (n.2528-171A=)
2g.189007883A>CCA006344COL3A1c.3265-2A>C (n.3265-2A>C)
c.3364-2A>C (n.3364-2A>C)
c.2528-171A>C (n.2528-171A>C)
 ClinVar dbSNP
2g.189007883A>GCA349845997COL3A1c.3265-2A>G (n.3265-2A>G)
c.3364-2A>G (n.3364-2A>G)
c.2528-171A>G (n.2528-171A>G)
2g.189007883A>TCA349845996COL3A1c.3265-2A>T (n.3265-2A>T)
c.3364-2A>T (n.3364-2A>T)
c.2528-171A>T (n.2528-171A>T)
2g.189007884G>ACA62561707COL3A1c.3265-1G>A (n.3265-1G>A)
c.3364-1G>A (n.3364-1G>A)
c.2528-170G>A (n.2528-170G>A)
 dbSNP
2g.189007884G>CCA349845998COL3A1c.3265-1G>C (n.3265-1G>C)
c.3364-1G>C (n.3364-1G>C)
c.2528-170G>C (n.2528-170G>C)
2g.189007884G=CA1315404994COL3A1c.3265-1G= (n.3265-1G=)
c.3364-1G= (n.3364-1G=)
c.2528-170G= (n.2528-170G=)
2g.189007884G>TCA349845999COL3A1c.3265-1G>T (n.3265-1G>T)
c.3364-1G>T (n.3364-1G>T)
c.2528-170G>T (n.2528-170G>T)
2g.189007885G>ACA349846000COL3A1c.3265G>A (p.Gly1089Ser)
c.3364G>A (p.Gly1122Ser)
c.2528-169G>A (n.2528-169G>A)
 ClinVar gnomAD v4
2g.189007885G>CCA349846003COL3A1c.3265G>C (p.Gly1089Arg)
c.3364G>C (p.Gly1122Arg)
c.2528-169G>C (n.2528-169G>C)
2g.189007885G>TCA349846005COL3A1c.3265G>T (p.Gly1089Cys)
c.3364G>T (p.Gly1122Cys)
c.2528-169G>T (n.2528-169G>T)
2g.189007886G>ACA349846008COL3A1c.3266G>A (p.Gly1089Asp)
c.3365G>A (p.Gly1122Asp)
c.2528-168G>A (n.2528-168G>A)
2g.189007886G>CCA349846010COL3A1c.3266G>C (p.Gly1089Ala)
c.3365G>C (p.Gly1122Ala)
c.2528-168G>C (n.2528-168G>C)
2g.189007886G>TCA349846012COL3A1c.3266G>T (p.Gly1089Val)
c.3365G>T (p.Gly1122Val)
c.2528-168G>T (n.2528-168G>T)
2g.189007887C>ACA430313474COL3A1c.3267C>A (p.Gly1089=)
c.3366C>A (p.Gly1122=)
c.2528-167C>A (n.2528-167C>A)
2g.189007887C=CA1315404995COL3A1c.3267C= (p.Gly1089=)
c.3366C= (p.Gly1122=)
c.2528-167C= (n.2528-167C=)
2g.189007887C>GCA430313475COL3A1c.3267C>G (p.Gly1089=)
c.3366C>G (p.Gly1122=)
c.2528-167C>G (n.2528-167C>G)
2g.189007887C>TCA430313476COL3A1c.3267C>T (p.Gly1089=)
c.3366C>T (p.Gly1122=)
c.2528-167C>T (n.2528-167C>T)
 dbSNP gnomAD v4
2g.189007888C>ACA349846015COL3A1c.3268C>A (p.Pro1090Thr)
c.3367C>A (p.Pro1123Thr)
c.2528-166C>A (n.2528-166C>A)
2g.189007888C=CA1315404996COL3A1c.3268C= (p.Pro1090=)
c.3367C= (p.Pro1123=)
c.2528-166C= (n.2528-166C=)
2g.189007888C>GCA349846017COL3A1c.3268C>G (p.Pro1090Ala)
c.3367C>G (p.Pro1123Ala)
c.2528-166C>G (n.2528-166C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189007888C>TCA349846019COL3A1c.3268C>T (p.Pro1090Ser)
c.3367C>T (p.Pro1123Ser)
c.2528-166C>T (n.2528-166C>T)
2g.189007889C>ACA349846022COL3A1c.3269C>A (p.Pro1090His)
c.3368C>A (p.Pro1123His)
c.2528-165C>A (n.2528-165C>A)
2g.189007889C=CA1315404997COL3A1c.3269C= (p.Pro1090=)
c.3368C= (p.Pro1123=)
c.2528-165C= (n.2528-165C=)
2g.189007889C>GCA076069COL3A1c.3269C>G (p.Pro1090Arg)
c.3368C>G (p.Pro1123Arg)
c.2528-165C>G (n.2528-165C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007889C>TCA076071COL3A1c.3269C>T (p.Pro1090Leu)
c.3368C>T (p.Pro1123Leu)
c.2528-165C>T (n.2528-165C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189007890T>ACA430313481COL3A1c.3270T>A (p.Pro1090=)
c.3369T>A (p.Pro1123=)
c.2528-164T>A (n.2528-164T>A)
2g.189007890T>CCA430313482COL3A1c.3270T>C (p.Pro1090=)
c.3369T>C (p.Pro1123=)
c.2528-164T>C (n.2528-164T>C)
2g.189007890T>GCA430313483COL3A1c.3270T>G (p.Pro1090=)
c.3369T>G (p.Pro1123=)
c.2528-164T>G (n.2528-164T>G)
2g.189007890T=CA1315404998COL3A1c.3270T= (p.Pro1090=)
c.3369T= (p.Pro1123=)
c.2528-164T= (n.2528-164T=)
2g.189007891G>ACA349846030COL3A1c.3271G>A (p.Ala1091Thr)
c.3370G>A (p.Ala1124Thr)
c.2528-163G>A (n.2528-163G>A)
2g.189007891G>CCA349846026COL3A1c.3271G>C (p.Ala1091Pro)
c.3370G>C (p.Ala1124Pro)
c.2528-163G>C (n.2528-163G>C)
2g.189007891G=CA1315404999COL3A1c.3271G= (p.Ala1091=)
c.3370G= (p.Ala1124=)
c.2528-163G= (n.2528-163G=)
2g.189007891G>TCA349846027COL3A1c.3271G>T (p.Ala1091Ser)
c.3370G>T (p.Ala1124Ser)
c.2528-163G>T (n.2528-163G>T)
 ClinVar dbSNP COSMIC
2g.189007892C>ACA349846033COL3A1c.3272C>A (p.Ala1091Asp)
c.3371C>A (p.Ala1124Asp)
c.2528-162C>A (n.2528-162C>A)
2g.189007892C>GCA349846035COL3A1c.3272C>G (p.Ala1091Gly)
c.3371C>G (p.Ala1124Gly)
c.2528-162C>G (n.2528-162C>G)
2g.189007892C>TCA349846037COL3A1c.3272C>T (p.Ala1091Val)
c.3371C>T (p.Ala1124Val)
c.2528-162C>T (n.2528-162C>T)
2g.189007893T>ACA430313485COL3A1c.3273T>A (p.Ala1091=)
c.3372T>A (p.Ala1124=)
c.2528-161T>A (n.2528-161T>A)
2g.189007893T>CCA430313486COL3A1c.3273T>C (p.Ala1091=)
c.3372T>C (p.Ala1124=)
c.2528-161T>C (n.2528-161T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189007893T>GCA430313488COL3A1c.3273T>G (p.Ala1091=)
c.3372T>G (p.Ala1124=)
c.2528-161T>G (n.2528-161T>G)
2g.189007893T=CA1315405000COL3A1c.3273T= (p.Ala1091=)
c.3372T= (p.Ala1124=)
c.2528-161T= (n.2528-161T=)
2g.189007894G>ACA349846044COL3A1c.3274G>A (p.Gly1092Ser)
c.3373G>A (p.Gly1125Ser)
c.2528-160G>A (n.2528-160G>A)
 COSMIC
2g.189007894G>CCA349846041COL3A1c.3274G>C (p.Gly1092Arg)
c.3373G>C (p.Gly1125Arg)
c.2528-160G>C (n.2528-160G>C)
2g.189007894G>TCA349846040COL3A1c.3274G>T (p.Gly1092Cys)
c.3373G>T (p.Gly1125Cys)
c.2528-160G>T (n.2528-160G>T)
2g.189007895G>ACA349846047COL3A1c.3275G>A (p.Gly1092Asp)
c.3374G>A (p.Gly1125Asp)
c.2528-159G>A (n.2528-159G>A)
 ClinVar
2g.189007895G>CCA349846049COL3A1c.3275G>C (p.Gly1092Ala)
c.3374G>C (p.Gly1125Ala)
c.2528-159G>C (n.2528-159G>C)
2g.189007895G>TCA349846051COL3A1c.3275G>T (p.Gly1092Val)
c.3374G>T (p.Gly1125Val)
c.2528-159G>T (n.2528-159G>T)
 COSMIC
2g.189007896T>ACA430313491COL3A1c.3276T>A (p.Gly1092=)
c.3375T>A (p.Gly1125=)
c.2528-158T>A (n.2528-158T>A)
2g.189007896T>CCA430313493COL3A1c.3276T>C (p.Gly1092=)
c.3375T>C (p.Gly1125=)
c.2528-158T>C (n.2528-158T>C)
 ClinVar dbSNP
2g.189007896T>GCA430313492COL3A1c.3276T>G (p.Gly1092=)
c.3375T>G (p.Gly1125=)
c.2528-158T>G (n.2528-158T>G)
2g.189007896T=CA1315405001COL3A1c.3276T= (p.Gly1092=)
c.3375T= (p.Gly1125=)
c.2528-158T= (n.2528-158T=)
2g.189007897C>ACA349846054COL3A1c.3277C>A (p.Gln1093Lys)
c.3376C>A (p.Gln1126Lys)
c.2528-157C>A (n.2528-157C>A)
2g.189007897C>GCA349846056COL3A1c.3277C>G (p.Gln1093Glu)
c.3376C>G (p.Gln1126Glu)
c.2528-157C>G (n.2528-157C>G)
2g.189007897C>TCA349846058COL3A1c.3277C>T (p.Gln1093Ter)
c.3376C>T (p.Gln1126Ter)
c.2528-157C>T (n.2528-157C>T)
 COSMIC
2g.189007898A>CCA349846064COL3A1c.3278A>C (p.Gln1093Pro)
c.3377A>C (p.Gln1126Pro)
c.2528-156A>C (n.2528-156A>C)
2g.189007898A>GCA349846060COL3A1c.3278A>G (p.Gln1093Arg)
c.3377A>G (p.Gln1126Arg)
c.2528-156A>G (n.2528-156A>G)
2g.189007898A>TCA349846063COL3A1c.3278A>T (p.Gln1093Leu)
c.3377A>T (p.Gln1126Leu)
c.2528-156A>T (n.2528-156A>T)
2g.189007899G>ACA430313498COL3A1c.3279G>A (p.Gln1093=)
c.3378G>A (p.Gln1126=)
c.2528-155G>A (n.2528-155G>A)
2g.189007899G>CCA349846066COL3A1c.3279G>C (p.Gln1093His)
c.3378G>C (p.Gln1126His)
c.2528-155G>C (n.2528-155G>C)
 ClinVar
2g.189007899G>TCA349846068COL3A1c.3279G>T (p.Gln1093His)
c.3378G>T (p.Gln1126His)
c.2528-155G>T (n.2528-155G>T)
2g.189007900C>ACA349846071COL3A1c.3280C>A (p.Gln1094Lys)
c.3379C>A (p.Gln1127Lys)
c.2528-154C>A (n.2528-154C>A)
2g.189007900C=CA1315405002COL3A1c.3280C= (p.Gln1094=)
c.3379C= (p.Gln1127=)
c.2528-154C= (n.2528-154C=)
2g.189007900C>GCA076072COL3A1c.3280C>G (p.Gln1094Glu)
c.3379C>G (p.Gln1127Glu)
c.2528-154C>G (n.2528-154C>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.189007900C>TCA349846074COL3A1c.3280C>T (p.Gln1094Ter)
c.3379C>T (p.Gln1127Ter)
c.2528-154C>T (n.2528-154C>T)
 ClinVar
2g.189007901A>CCA349846076COL3A1c.3281A>C (p.Gln1094Pro)
c.3380A>C (p.Gln1127Pro)
c.2528-153A>C (n.2528-153A>C)
2g.189007901A>GCA349846078COL3A1c.3281A>G (p.Gln1094Arg)
c.3380A>G (p.Gln1127Arg)
c.2528-153A>G (n.2528-153A>G)
2g.189007901A>TCA349846079COL3A1c.3281A>T (p.Gln1094Leu)
c.3380A>T (p.Gln1127Leu)
c.2528-153A>T (n.2528-153A>T)
2g.189007902G>ACA430313500COL3A1c.3282G>A (p.Gln1094=)
c.3381G>A (p.Gln1127=)
c.2528-152G>A (n.2528-152G>A)
 dbSNP COSMIC
2g.189007902G>CCA349846080COL3A1c.3282G>C (p.Gln1094His)
c.3381G>C (p.Gln1127His)
c.2528-152G>C (n.2528-152G>C)
2g.189007902G=CA1315405003COL3A1c.3282G= (p.Gln1094=)
c.3381G= (p.Gln1127=)
c.2528-152G= (n.2528-152G=)
2g.189007902G>TCA349846081COL3A1c.3282G>T (p.Gln1094His)
c.3381G>T (p.Gln1127His)
c.2528-152G>T (n.2528-152G>T)
 ClinVar dbSNP gnomAD v4
2g.189007903G>ACA349846082COL3A1c.3283G>A (p.Gly1095Ser)
c.3382G>A (p.Gly1128Ser)
c.2528-151G>A (n.2528-151G>A)
2g.189007903G>CCA349846084COL3A1c.3283G>C (p.Gly1095Arg)
c.3382G>C (p.Gly1128Arg)
c.2528-151G>C (n.2528-151G>C)
2g.189007903G>TCA349846086COL3A1c.3283G>T (p.Gly1095Cys)
c.3382G>T (p.Gly1128Cys)
c.2528-151G>T (n.2528-151G>T)
2g.189007904G>ACA349846090COL3A1c.3284G>A (p.Gly1095Asp)
c.3383G>A (p.Gly1128Asp)
c.2528-150G>A (n.2528-150G>A)
2g.189007904G>CCA349846088COL3A1c.3284G>C (p.Gly1095Ala)
c.3383G>C (p.Gly1128Ala)
c.2528-150G>C (n.2528-150G>C)
2g.189007904G>TCA349846089COL3A1c.3284G>T (p.Gly1095Val)
c.3383G>T (p.Gly1128Val)
c.2528-150G>T (n.2528-150G>T)
 ClinVar dbSNP
2g.189007905T>ACA430313507COL3A1c.3285T>A (p.Gly1095=)
c.3384T>A (p.Gly1128=)
c.2528-149T>A (n.2528-149T>A)
2g.189007905T>CCA430313508COL3A1c.3285T>C (p.Gly1095=)
c.3384T>C (p.Gly1128=)
c.2528-149T>C (n.2528-149T>C)
2g.189007905T>GCA430313509COL3A1c.3285T>G (p.Gly1095=)
c.3384T>G (p.Gly1128=)
c.2528-149T>G (n.2528-149T>G)
2g.189007906G>ACA349846091COL3A1c.3286G>A (p.Ala1096Thr)
c.3385G>A (p.Ala1129Thr)
c.2528-148G>A (n.2528-148G>A)
2g.189007906G>CCA349846092COL3A1c.3286G>C (p.Ala1096Pro)
c.3385G>C (p.Ala1129Pro)
c.2528-148G>C (n.2528-148G>C)
2g.189007906G>TCA349846093COL3A1c.3286G>T (p.Ala1096Ser)
c.3385G>T (p.Ala1129Ser)
c.2528-148G>T (n.2528-148G>T)
2g.189007907C>ACA349846096COL3A1c.3287C>A (p.Ala1096Glu)
c.3386C>A (p.Ala1129Glu)
c.2528-147C>A (n.2528-147C>A)
2g.189007907C>GCA349846098COL3A1c.3287C>G (p.Ala1096Gly)
c.3386C>G (p.Ala1129Gly)
c.2528-147C>G (n.2528-147C>G)
2g.189007907C>TCA349846099COL3A1c.3287C>T (p.Ala1096Val)
c.3386C>T (p.Ala1129Val)
c.2528-147C>T (n.2528-147C>T)
2g.189007908A=CA1315405004COL3A1c.3288A= (p.Ala1096=)
c.3387A= (p.Ala1129=)
c.2528-146A= (n.2528-146A=)
2g.189007908A>CCA430313510COL3A1c.3288A>C (p.Ala1096=)
c.3387A>C (p.Ala1129=)
c.2528-146A>C (n.2528-146A>C)
 dbSNP
2g.189007908A>GCA430313512COL3A1c.3288A>G (p.Ala1096=)
c.3387A>G (p.Ala1129=)
c.2528-146A>G (n.2528-146A>G)
 dbSNP
2g.189007908A>TCA430313511COL3A1c.3288A>T (p.Ala1096=)
c.3387A>T (p.Ala1129=)
c.2528-146A>T (n.2528-146A>T)
2g.189007909A>CCA349846104COL3A1c.3289A>C (p.Ile1097Leu)
c.3388A>C (p.Ile1130Leu)
c.2528-145A>C (n.2528-145A>C)
2g.189007909A>GCA349846103COL3A1c.3289A>G (p.Ile1097Val)
c.3388A>G (p.Ile1130Val)
c.2528-145A>G (n.2528-145A>G)
 ClinVar gnomAD v4
2g.189007909A>TCA349846101COL3A1c.3289A>T (p.Ile1097Phe)
c.3388A>T (p.Ile1130Phe)
c.2528-145A>T (n.2528-145A>T)
2g.189007910T>ACA349846105COL3A1c.3290T>A (p.Ile1097Asn)
c.3389T>A (p.Ile1130Asn)
c.2528-144T>A (n.2528-144T>A)
2g.189007910T>CCA349846107COL3A1c.3290T>C (p.Ile1097Thr)
c.3389T>C (p.Ile1130Thr)
c.2528-144T>C (n.2528-144T>C)
2g.189007910T>GCA349846110COL3A1c.3290T>G (p.Ile1097Ser)
c.3389T>G (p.Ile1130Ser)
c.2528-144T>G (n.2528-144T>G)
2g.189007911C>ACA076074COL3A1c.3291C>A (p.Ile1097=)
c.3390C>A (p.Ile1130=)
c.2528-143C>A (n.2528-143C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007911C=CA1315405005COL3A1c.3291C= (p.Ile1097=)
c.3390C= (p.Ile1130=)
c.2528-143C= (n.2528-143C=)
2g.189007911C>GCA349846113COL3A1c.3291C>G (p.Ile1097Met)
c.3390C>G (p.Ile1130Met)
c.2528-143C>G (n.2528-143C>G)
2g.189007911C>TCA076076COL3A1c.3291C>T (p.Ile1097=)
c.3390C>T (p.Ile1130=)
c.2528-143C>T (n.2528-143C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189007912G>ACA006351COL3A1c.3292G>A (p.Gly1098Ser)
c.3391G>A (p.Gly1131Ser)
c.2528-142G>A (n.2528-142G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189007912G>CCA349846119COL3A1c.3292G>C (p.Gly1098Arg)
c.3391G>C (p.Gly1131Arg)
c.2528-142G>C (n.2528-142G>C)
2g.189007912G=CA1315405006COL3A1c.3292G= (p.Gly1098=)
c.3391G= (p.Gly1131=)
c.2528-142G= (n.2528-142G=)
2g.189007912G>TCA349846117COL3A1c.3292G>T (p.Gly1098Cys)
c.3391G>T (p.Gly1131Cys)
c.2528-142G>T (n.2528-142G>T)
2g.189007913G>ACA349846122COL3A1c.3293G>A (p.Gly1098Asp)
c.3392G>A (p.Gly1131Asp)
c.2528-141G>A (n.2528-141G>A)
2g.189007913G>CCA349846123COL3A1c.3293G>C (p.Gly1098Ala)
c.3392G>C (p.Gly1131Ala)
c.2528-141G>C (n.2528-141G>C)
2g.189007913G>TCA349846126COL3A1c.3293G>T (p.Gly1098Val)
c.3392G>T (p.Gly1131Val)
c.2528-141G>T (n.2528-141G>T)
 ClinVar
2g.189007914C>ACA430313517COL3A1c.3294C>A (p.Gly1098=)
c.3393C>A (p.Gly1131=)
c.2528-140C>A (n.2528-140C>A)
 dbSNP
2g.189007914C=CA1315405007COL3A1c.3294C= (p.Gly1098=)
c.3393C= (p.Gly1131=)
c.2528-140C= (n.2528-140C=)
2g.189007914C>GCA430313519COL3A1c.3294C>G (p.Gly1098=)
c.3393C>G (p.Gly1131=)
c.2528-140C>G (n.2528-140C>G)
2g.189007914C>TCA430313521COL3A1c.3294C>T (p.Gly1098=)
c.3393C>T (p.Gly1131=)
c.2528-140C>T (n.2528-140C>T)
 ClinVar
2g.189007915A>CCA349846128COL3A1c.3295A>C (p.Ser1099Arg)
c.3394A>C (p.Ser1132Arg)
c.2528-139A>C (n.2528-139A>C)
2g.189007915A>GCA349846131COL3A1c.3295A>G (p.Ser1099Gly)
c.3394A>G (p.Ser1132Gly)
c.2528-139A>G (n.2528-139A>G)
 gnomAD v4
2g.189007915A>TCA349846132COL3A1c.3295A>T (p.Ser1099Cys)
c.3394A>T (p.Ser1132Cys)
c.2528-139A>T (n.2528-139A>T)
2g.189007916G>ACA349846135COL3A1c.3296G>A (p.Ser1099Asn)
c.3395G>A (p.Ser1132Asn)
c.2528-138G>A (n.2528-138G>A)
 gnomAD v4
2g.189007916G>CCA349846137COL3A1c.3296G>C (p.Ser1099Thr)
c.3395G>C (p.Ser1132Thr)
c.2528-138G>C (n.2528-138G>C)
2g.189007916G>TCA349846139COL3A1c.3296G>T (p.Ser1099Ile)
c.3395G>T (p.Ser1132Ile)
c.2528-138G>T (n.2528-138G>T)
2g.189007917T>ACA349846142COL3A1c.3297T>A (p.Ser1099Arg)
c.3396T>A (p.Ser1132Arg)
c.2528-137T>A (n.2528-137T>A)
2g.189007917T>CCA430313523COL3A1c.3297T>C (p.Ser1099=)
c.3396T>C (p.Ser1132=)
c.2528-137T>C (n.2528-137T>C)
2g.189007917T>GCA349846144COL3A1c.3297T>G (p.Ser1099Arg)
c.3396T>G (p.Ser1132Arg)
c.2528-137T>G (n.2528-137T>G)
2g.189007918C>ACA349846146COL3A1c.3298C>A (p.Pro1100Thr)
c.3397C>A (p.Pro1133Thr)
c.2528-136C>A (n.2528-136C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007918C=CA1315405008COL3A1c.3298C= (p.Pro1100=)
c.3397C= (p.Pro1133=)
c.2528-136C= (n.2528-136C=)
2g.189007918C>GCA349846150COL3A1c.3298C>G (p.Pro1100Ala)
c.3397C>G (p.Pro1133Ala)
c.2528-136C>G (n.2528-136C>G)
2g.189007918C>TCA349846147COL3A1c.3298C>T (p.Pro1100Ser)
c.3397C>T (p.Pro1133Ser)
c.2528-136C>T (n.2528-136C>T)
2g.189007919C>ACA349846152COL3A1c.3299C>A (p.Pro1100Gln)
c.3398C>A (p.Pro1133Gln)
c.2528-135C>A (n.2528-135C>A)
 dbSNP gnomAD v4
2g.189007919C=CA1315405009COL3A1c.3299C= (p.Pro1100=)
c.3398C= (p.Pro1133=)
c.2528-135C= (n.2528-135C=)
2g.189007919C>GCA349846157COL3A1c.3299C>G (p.Pro1100Arg)
c.3398C>G (p.Pro1133Arg)
c.2528-135C>G (n.2528-135C>G)
2g.189007919C>TCA349846154COL3A1c.3299C>T (p.Pro1100Leu)
c.3398C>T (p.Pro1133Leu)
c.2528-135C>T (n.2528-135C>T)
 gnomAD v4
2g.189007920A>CCA430313526COL3A1c.3300A>C (p.Pro1100=)
c.3399A>C (p.Pro1133=)
c.2528-134A>C (n.2528-134A>C)
2g.189007920A>GCA430313529COL3A1c.3300A>G (p.Pro1100=)
c.3399A>G (p.Pro1133=)
c.2528-134A>G (n.2528-134A>G)
2g.189007920A>TCA430313528COL3A1c.3300A>T (p.Pro1100=)
c.3399A>T (p.Pro1133=)
c.2528-134A>T (n.2528-134A>T)
2g.189007921G>ACA349846160COL3A1c.3301G>A (p.Gly1101Arg)
c.3400G>A (p.Gly1134Arg)
c.2528-133G>A (n.2528-133G>A)
2g.189007921G>CCA349846161COL3A1c.3301G>C (p.Gly1101Arg)
c.3400G>C (p.Gly1134Arg)
c.2528-133G>C (n.2528-133G>C)
2g.189007921G>TCA349846163COL3A1c.3301G>T (p.Gly1101Ter)
c.3400G>T (p.Gly1134Ter)
c.2528-133G>T (n.2528-133G>T)
2g.189007922G>ACA349846166COL3A1c.3302G>A (p.Gly1101Glu)
c.3401G>A (p.Gly1134Glu)
c.2528-132G>A (n.2528-132G>A)
 COSMIC
2g.189007922G>CCA349846168COL3A1c.3302G>C (p.Gly1101Ala)
c.3401G>C (p.Gly1134Ala)
c.2528-132G>C (n.2528-132G>C)
 gnomAD v4
2g.189007922G>TCA349846170COL3A1c.3302G>T (p.Gly1101Val)
c.3401G>T (p.Gly1134Val)
c.2528-132G>T (n.2528-132G>T)
2g.189007923A=CA1315405010COL3A1c.3303A= (p.Gly1101=)
c.3402A= (p.Gly1134=)
c.2528-131A= (n.2528-131A=)
2g.189007923A>CCA430313530COL3A1c.3303A>C (p.Gly1101=)
c.3402A>C (p.Gly1134=)
c.2528-131A>C (n.2528-131A>C)
 gnomAD v4
2g.189007923A>GCA430313531COL3A1c.3303A>G (p.Gly1101=)
c.3402A>G (p.Gly1134=)
c.2528-131A>G (n.2528-131A>G)
 ClinVar dbSNP
2g.189007923A>TCA430313532COL3A1c.3303A>T (p.Gly1101=)
c.3402A>T (p.Gly1134=)
c.2528-131A>T (n.2528-131A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189007924C>ACA349846174COL3A1c.3304C>A (p.Pro1102Thr)
c.3403C>A (p.Pro1135Thr)
c.2528-130C>A (n.2528-130C>A)
 ClinVar
2g.189007924C>GCA349846175COL3A1c.3304C>G (p.Pro1102Ala)
c.3403C>G (p.Pro1135Ala)
c.2528-130C>G (n.2528-130C>G)
2g.189007924C>TCA349846177COL3A1c.3304C>T (p.Pro1102Ser)
c.3403C>T (p.Pro1135Ser)
c.2528-130C>T (n.2528-130C>T)
2g.189007925C>ACA349846179COL3A1c.3305C>A (p.Pro1102His)
c.3404C>A (p.Pro1135His)
c.2528-129C>A (n.2528-129C>A)
 COSMIC
2g.189007925C>GCA349846180COL3A1c.3305C>G (p.Pro1102Arg)
c.3404C>G (p.Pro1135Arg)
c.2528-129C>G (n.2528-129C>G)
2g.189007925C>TCA349846183COL3A1c.3305C>T (p.Pro1102Leu)
c.3404C>T (p.Pro1135Leu)
c.2528-129C>T (n.2528-129C>T)
2g.189007926T>ACA430313535COL3A1c.3306T>A (p.Pro1102=)
c.3405T>A (p.Pro1135=)
c.2528-128T>A (n.2528-128T>A)
2g.189007926T>CCA430313536COL3A1c.3306T>C (p.Pro1102=)
c.3405T>C (p.Pro1135=)
c.2528-128T>C (n.2528-128T>C)
2g.189007926T>GCA430313537COL3A1c.3306T>G (p.Pro1102=)
c.3405T>G (p.Pro1135=)
c.2528-128T>G (n.2528-128T>G)
2g.189007927G>ACA349846188COL3A1c.3307G>A (p.Ala1103Thr)
c.3406G>A (p.Ala1136Thr)
c.2528-127G>A (n.2528-127G>A)
 gnomAD v4
2g.189007927G>CCA349846186COL3A1c.3307G>C (p.Ala1103Pro)
c.3406G>C (p.Ala1136Pro)
c.2528-127G>C (n.2528-127G>C)
2g.189007927G=CA1315405011COL3A1c.3307G= (p.Ala1103=)
c.3406G= (p.Ala1136=)
c.2528-127G= (n.2528-127G=)
2g.189007927G>TCA62561743COL3A1c.3307G>T (p.Ala1103Ser)
c.3406G>T (p.Ala1136Ser)
c.2528-127G>T (n.2528-127G>T)
 dbSNP
2g.189007928C>ACA349846190COL3A1c.3308C>A (p.Ala1103Glu)
c.3407C>A (p.Ala1136Glu)
c.2528-126C>A (n.2528-126C>A)
 dbSNP
2g.189007928C=CA1315405012COL3A1c.3308C= (p.Ala1103=)
c.3407C= (p.Ala1136=)
c.2528-126C= (n.2528-126C=)
2g.189007928C>GCA349846192COL3A1c.3308C>G (p.Ala1103Gly)
c.3407C>G (p.Ala1136Gly)
c.2528-126C>G (n.2528-126C>G)
2g.189007928C>TCA349846194COL3A1c.3308C>T (p.Ala1103Val)
c.3407C>T (p.Ala1136Val)
c.2528-126C>T (n.2528-126C>T)
 ClinVar dbSNP gnomAD v4
2g.189007929A>CCA430313541COL3A1c.3309A>C (p.Ala1103=)
c.3408A>C (p.Ala1136=)
c.2528-125A>C (n.2528-125A>C)
2g.189007929A>GCA430313542COL3A1c.3309A>G (p.Ala1103=)
c.3408A>G (p.Ala1136=)
c.2528-125A>G (n.2528-125A>G)
2g.189007929A>TCA430313539COL3A1c.3309A>T (p.Ala1103=)
c.3408A>T (p.Ala1136=)
c.2528-125A>T (n.2528-125A>T)
2g.189007930G>ACA349846196COL3A1c.3310G>A (p.Gly1104Ser)
c.3409G>A (p.Gly1137Ser)
c.2528-124G>A (n.2528-124G>A)
2g.189007930G>CCA349846198COL3A1c.3310G>C (p.Gly1104Arg)
c.3409G>C (p.Gly1137Arg)
c.2528-124G>C (n.2528-124G>C)
2g.189007930G>TCA349846200COL3A1c.3310G>T (p.Gly1104Cys)
c.3409G>T (p.Gly1137Cys)
c.2528-124G>T (n.2528-124G>T)
2g.189007931G>ACA006357COL3A1c.3311G>A (p.Gly1104Asp)
c.3410G>A (p.Gly1137Asp)
c.2528-123G>A (n.2528-123G>A)
 ClinVar dbSNP
2g.189007931G>CCA349846204COL3A1c.3311G>C (p.Gly1104Ala)
c.3410G>C (p.Gly1137Ala)
c.2528-123G>C (n.2528-123G>C)
2g.189007931G=CA1315405013COL3A1c.3311G= (p.Gly1104=)
c.3410G= (p.Gly1137=)
c.2528-123G= (n.2528-123G=)
2g.189007931G>TCA349846205COL3A1c.3311G>T (p.Gly1104Val)
c.3410G>T (p.Gly1137Val)
c.2528-123G>T (n.2528-123G>T)
2g.189007932C>ACA430313547COL3A1c.3312C>A (p.Gly1104=)
c.3411C>A (p.Gly1137=)
c.2528-122C>A (n.2528-122C>A)
 ClinVar
2g.189007932C=CA1315405014COL3A1c.3312C= (p.Gly1104=)
c.3411C= (p.Gly1137=)
c.2528-122C= (n.2528-122C=)
2g.189007932C>GCA430313549COL3A1c.3312C>G (p.Gly1104=)
c.3411C>G (p.Gly1137=)
c.2528-122C>G (n.2528-122C>G)
 ClinVar dbSNP
2g.189007932C>TCA076080COL3A1c.3312C>T (p.Gly1104=)
c.3411C>T (p.Gly1137=)
c.2528-122C>T (n.2528-122C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189007933C>ACA349846212COL3A1c.3313C>A (p.Pro1105Thr)
c.3412C>A (p.Pro1138Thr)
c.2528-121C>A (n.2528-121C>A)
 dbSNP
2g.189007933C>GCA349846210COL3A1c.3313C>G (p.Pro1105Ala)
c.3412C>G (p.Pro1138Ala)
c.2528-121C>G (n.2528-121C>G)
2g.189007933C>TCA349846208COL3A1c.3313C>T (p.Pro1105Ser)
c.3412C>T (p.Pro1138Ser)
c.2528-121C>T (n.2528-121C>T)
 ClinVar
2g.189007934C>ACA349846215COL3A1c.3314C>A (p.Pro1105His)
c.3413C>A (p.Pro1138His)
c.2528-120C>A (n.2528-120C>A)
2g.189007934C=CA1315405015COL3A1c.3314C= (p.Pro1105=)
c.3413C= (p.Pro1138=)
c.2528-120C= (n.2528-120C=)
2g.189007934C>GCA349846217COL3A1c.3314C>G (p.Pro1105Arg)
c.3413C>G (p.Pro1138Arg)
c.2528-120C>G (n.2528-120C>G)
2g.189007934C>TCA076082COL3A1c.3314C>T (p.Pro1105Leu)
c.3413C>T (p.Pro1138Leu)
c.2528-120C>T (n.2528-120C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189007935C>ACA62561753COL3A1c.3315C>A (p.Pro1105=)
c.3414C>A (p.Pro1138=)
c.2528-119C>A (n.2528-119C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189007935C=CA1315405016COL3A1c.3315C= (p.Pro1105=)
c.3414C= (p.Pro1138=)
c.2528-119C= (n.2528-119C=)
2g.189007935C>GCA430313554COL3A1c.3315C>G (p.Pro1105=)
c.3414C>G (p.Pro1138=)
c.2528-119C>G (n.2528-119C>G)
2g.189007935C>TCA430313555COL3A1c.3315C>T (p.Pro1105=)
c.3414C>T (p.Pro1138=)
c.2528-119C>T (n.2528-119C>T)
 gnomAD v4
2g.189007936A=CA1315405017COL3A1c.3316A= (p.Arg1106=)
c.3415A= (p.Arg1139=)
c.2528-118A= (n.2528-118A=)
2g.189007936A>CCA430313556COL3A1c.3316A>C (p.Arg1106=)
c.3415A>C (p.Arg1139=)
c.2528-118A>C (n.2528-118A>C)
 gnomAD v4
2g.189007936A>GCA349846223COL3A1c.3316A>G (p.Arg1106Gly)
c.3415A>G (p.Arg1139Gly)
c.2528-118A>G (n.2528-118A>G)
 ClinVar dbSNP
2g.189007936A>TCA349846224COL3A1c.3316A>T (p.Arg1106Ter)
c.3415A>T (p.Arg1139Ter)
c.2528-118A>T (n.2528-118A>T)
2g.189007937G>ACA349846230COL3A1c.3317G>A (p.Arg1106Lys)
c.3416G>A (p.Arg1139Lys)
c.2528-117G>A (n.2528-117G>A)
2g.189007937G>CCA349846227COL3A1c.3317G>C (p.Arg1106Thr)
c.3416G>C (p.Arg1139Thr)
c.2528-117G>C (n.2528-117G>C)
2g.189007937G>TCA349846229COL3A1c.3317G>T (p.Arg1106Ile)
c.3416G>T (p.Arg1139Ile)
c.2528-117G>T (n.2528-117G>T)
 gnomAD v4
2g.189007938A>CCA349846232COL3A1c.3318A>C (p.Arg1106Ser)
c.3417A>C (p.Arg1139Ser)
c.2528-116A>C (n.2528-116A>C)
2g.189007938A>GCA430313557COL3A1c.3318A>G (p.Arg1106=)
c.3417A>G (p.Arg1139=)
c.2528-116A>G (n.2528-116A>G)
2g.189007938A>TCA349846233COL3A1c.3318A>T (p.Arg1106Ser)
c.3417A>T (p.Arg1139Ser)
c.2528-116A>T (n.2528-116A>T)
2g.189007939G>ACA006363COL3A1c.3318+1G>A (n.3318+1G>A)
c.3417+1G>A (n.3417+1G>A)
c.2528-115G>A (n.2528-115G>A)
 ClinVar dbSNP
2g.189007939G>CCA006368COL3A1c.3318+1G>C (n.3318+1G>C)
c.3417+1G>C (n.3417+1G>C)
c.2528-115G>C (n.2528-115G>C)
 ClinVar dbSNP
2g.189007939G=CA1315405018COL3A1c.3318+1G= (n.3318+1G=)
c.3417+1G= (n.3417+1G=)
c.2528-115G= (n.2528-115G=)
2g.189007939G>TCA006373COL3A1c.3318+1G>T (n.3318+1G>T)
c.3417+1G>T (n.3417+1G>T)
c.2528-115G>T (n.2528-115G>T)
 ClinVar dbSNP
2g.189007940_189008035delCA2753584181COL3A1c.3318+2_3319del
c.3417+2_3418del
c.2528-114_2528-19del (n.2528-114_2528-19del)

Number of alleles fetched