Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189052855T>CCA1315426011COL5A2c.2662-53A>G (n.2662-53A>G)
c.1501-53A>G (n.1501-53A>G)
c.2524-53A>G (n.2524-53A>G)
 dbSNP gnomAD v4
2g.189052855T=CA1315426010COL5A2c.2662-53A= (n.2662-53A=)
c.1501-53A= (n.1501-53A=)
c.2524-53A= (n.2524-53A=)
2g.189052857C>TCA2662318305COL5A2c.2662-55G>A (n.2662-55G>A)
c.1501-55G>A (n.1501-55G>A)
c.2524-55G>A (n.2524-55G>A)
 gnomAD v4
2g.189052860T>CCA62596935COL5A2c.2661+51A>G (n.2661+51A>G)
c.1500+51A>G (n.1500+51A>G)
c.2523+51A>G (n.2523+51A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189052860T>GCA2662318306COL5A2c.2661+51A>C (n.2661+51A>C)
c.1500+51A>C (n.1500+51A>C)
c.2523+51A>C (n.2523+51A>C)
 gnomAD v4
2g.189052860T=CA1315426012COL5A2c.2661+51A= (n.2661+51A=)
c.1500+51A= (n.1500+51A=)
c.2523+51A= (n.2523+51A=)
2g.189052861C>TCA2577186591COL5A2c.2661+50G>A (n.2661+50G>A)
c.1500+50G>A (n.1500+50G>A)
c.2523+50G>A (n.2523+50G>A)
2g.189052865A>TCA2662318307COL5A2c.2661+46T>A (n.2661+46T>A)
c.1500+46T>A (n.1500+46T>A)
c.2523+46T>A (n.2523+46T>A)
 gnomAD v4
2g.189052867A=CA1315426013COL5A2c.2661+44T= (n.2661+44T=)
c.1500+44T= (n.1500+44T=)
c.2523+44T= (n.2523+44T=)
2g.189052867A>GCA2022245COL5A2c.2661+44T>C (n.2661+44T>C)
c.1500+44T>C (n.1500+44T>C)
c.2523+44T>C (n.2523+44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052868T>ACA538452215COL5A2c.2661+43A>T (n.2661+43A>T)
c.1500+43A>T (n.1500+43A>T)
c.2523+43A>T (n.2523+43A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189052868T>CCA1315426015COL5A2c.2661+43A>G (n.2661+43A>G)
c.1500+43A>G (n.1500+43A>G)
c.2523+43A>G (n.2523+43A>G)
 dbSNP gnomAD v4
2g.189052868T=CA1315426014COL5A2c.2661+43A= (n.2661+43A=)
c.1500+43A= (n.1500+43A=)
c.2523+43A= (n.2523+43A=)
2g.189052869G>ACA1315426016COL5A2c.2661+42C>T (n.2661+42C>T)
c.1500+42C>T (n.1500+42C>T)
c.2523+42C>T (n.2523+42C>T)
 dbSNP gnomAD v4
2g.189052869G=CA1315426017COL5A2c.2661+42C= (n.2661+42C=)
c.1500+42C= (n.1500+42C=)
c.2523+42C= (n.2523+42C=)
2g.189052869G>TCA2662318308COL5A2c.2661+42C>A (n.2661+42C>A)
c.1500+42C>A (n.1500+42C>A)
c.2523+42C>A (n.2523+42C>A)
 gnomAD v4
2g.189052870G>ACA538452217COL5A2c.2661+41C>T (n.2661+41C>T)
c.1500+41C>T (n.1500+41C>T)
c.2523+41C>T (n.2523+41C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189052870G=CA1315426018COL5A2c.2661+41C= (n.2661+41C=)
c.1500+41C= (n.1500+41C=)
c.2523+41C= (n.2523+41C=)
2g.189052870_189052871insAAAAACA2527983737COL5A2c.2661+40_2661+41insTTTTT (n.2661+40_2661+41insTTTTT)
c.1500+40_1500+41insTTTTT (n.1500+40_1500+41insTTTTT)
c.2523+40_2523+41insTTTTT (n.2523+40_2523+41insTTTTT)
2g.189052871G>ACA62596945COL5A2c.2661+40C>T (n.2661+40C>T)
c.1500+40C>T (n.1500+40C>T)
c.2523+40C>T (n.2523+40C>T)
 dbSNP
2g.189052871G=CA1315426019COL5A2c.2661+40C= (n.2661+40C=)
c.1500+40C= (n.1500+40C=)
c.2523+40C= (n.2523+40C=)
2g.189052873C>ACA2662318309COL5A2c.2661+38G>T (n.2661+38G>T)
c.1500+38G>T (n.1500+38G>T)
c.2523+38G>T (n.2523+38G>T)
 gnomAD v4
2g.189052873_189052880dupCA2662318310COL5A2c.2661+31_2661+38dup (n.2661+31_2661+38dup)
c.1500+31_1500+38dup (n.1500+31_1500+38dup)
c.2523+31_2523+38dup (n.2523+31_2523+38dup)
 gnomAD v4
2g.189052874A>TCA2662318311COL5A2c.2661+37T>A (n.2661+37T>A)
c.1500+37T>A (n.1500+37T>A)
c.2523+37T>A (n.2523+37T>A)
 gnomAD v4
2g.189052876T>CCA1315426021COL5A2c.2661+35A>G (n.2661+35A>G)
c.1500+35A>G (n.1500+35A>G)
c.2523+35A>G (n.2523+35A>G)
 dbSNP
2g.189052876T>GCA2662318312COL5A2c.2661+35A>C (n.2661+35A>C)
c.1500+35A>C (n.1500+35A>C)
c.2523+35A>C (n.2523+35A>C)
 gnomAD v4
2g.189052876T=CA1315426020COL5A2c.2661+35A= (n.2661+35A=)
c.1500+35A= (n.1500+35A=)
c.2523+35A= (n.2523+35A=)
2g.189052877T>CCA762258183COL5A2c.2661+34A>G (n.2661+34A>G)
c.1500+34A>G (n.1500+34A>G)
c.2523+34A>G (n.2523+34A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189052877T=CA1315426022COL5A2c.2661+34A= (n.2661+34A=)
c.1500+34A= (n.1500+34A=)
c.2523+34A= (n.2523+34A=)
2g.189052879A>CCA2662318313COL5A2c.2661+32T>G (n.2661+32T>G)
c.1500+32T>G (n.1500+32T>G)
c.2523+32T>G (n.2523+32T>G)
 gnomAD v4
2g.189052880C=CA1315426023COL5A2c.2661+31G= (n.2661+31G=)
c.1500+31G= (n.1500+31G=)
c.2523+31G= (n.2523+31G=)
2g.189052880C>TCA538452218COL5A2c.2661+31G>A (n.2661+31G>A)
c.1500+31G>A (n.1500+31G>A)
c.2523+31G>A (n.2523+31G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052881T>GCA2662318314COL5A2c.2661+30A>C (n.2661+30A>C)
c.1500+30A>C (n.1500+30A>C)
c.2523+30A>C (n.2523+30A>C)
 gnomAD v4
2g.189052882C>GCA2662318315COL5A2c.2661+29G>C (n.2661+29G>C)
c.1500+29G>C (n.1500+29G>C)
c.2523+29G>C (n.2523+29G>C)
 gnomAD v4
2g.189052883A>CCA2662318316COL5A2c.2661+28T>G (n.2661+28T>G)
c.1500+28T>G (n.1500+28T>G)
c.2523+28T>G (n.2523+28T>G)
 gnomAD v4
2g.189052884A=CA1315426024COL5A2c.2661+27T= (n.2661+27T=)
c.1500+27T= (n.1500+27T=)
c.2523+27T= (n.2523+27T=)
2g.189052884A>CCA1315426025COL5A2c.2661+27T>G (n.2661+27T>G)
c.1500+27T>G (n.1500+27T>G)
c.2523+27T>G (n.2523+27T>G)
 dbSNP gnomAD v4
2g.189052884A>GCA2662318317COL5A2c.2661+27T>C (n.2661+27T>C)
c.1500+27T>C (n.1500+27T>C)
c.2523+27T>C (n.2523+27T>C)
 gnomAD v4
2g.189052885G>ACA2577186592COL5A2c.2661+26C>T (n.2661+26C>T)
c.1500+26C>T (n.1500+26C>T)
c.2523+26C>T (n.2523+26C>T)
2g.189052886T>CCA2662318318COL5A2c.2661+25A>G (n.2661+25A>G)
c.1500+25A>G (n.1500+25A>G)
c.2523+25A>G (n.2523+25A>G)
 gnomAD v4
2g.189052889T>CCA762258185COL5A2c.2661+22A>G (n.2661+22A>G)
c.1500+22A>G (n.1500+22A>G)
c.2523+22A>G (n.2523+22A>G)
 dbSNP
2g.189052889T=CA1315426026COL5A2c.2661+22A= (n.2661+22A=)
c.1500+22A= (n.1500+22A=)
c.2523+22A= (n.2523+22A=)
2g.189052890G=CA1315426027COL5A2c.2661+21C= (n.2661+21C=)
c.1500+21C= (n.1500+21C=)
c.2523+21C= (n.2523+21C=)
2g.189052890G>TCA762258188COL5A2c.2661+21C>A (n.2661+21C>A)
c.1500+21C>A (n.1500+21C>A)
c.2523+21C>A (n.2523+21C>A)
 dbSNP
2g.189052890_189052891insTTACA2022246COL5A2c.2661+20_2661+21insTAA (n.2661+20_2661+21insTAA)
c.1500+20_1500+21insTAA (n.1500+20_1500+21insTAA)
c.2523+20_2523+21insTAA (n.2523+20_2523+21insTAA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891C>ACA2022247COL5A2c.2661+20G>T (n.2661+20G>T)
c.1500+20G>T (n.1500+20G>T)
c.2523+20G>T (n.2523+20G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891C=CA1315426028COL5A2c.2661+20G= (n.2661+20G=)
c.1500+20G= (n.1500+20G=)
c.2523+20G= (n.2523+20G=)
2g.189052891C>TCA290383COL5A2c.2661+20G>A (n.2661+20G>A)
c.1500+20G>A (n.1500+20G>A)
c.2523+20G>A (n.2523+20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052891_189052894delinsTTAACTTGACTCAAGCA2739278112COL5A2c.2661+17_2661+20delinsCTTGAGTCAAGTTAA (n.2661+17_2661+20delinsCTTGAGTCAAGTTAA)
c.1500+17_1500+20delinsCTTGAGTCAAGTTAA (n.1500+17_1500+20delinsCTTGAGTCAAGTTAA)
c.2523+17_2523+20delinsCTTGAGTCAAGTTAA (n.2523+17_2523+20delinsCTTGAGTCAAGTTAA)
 ClinVar
2g.189052893T>ACA2701153262COL5A2c.2661+18A>T (n.2661+18A>T)
c.1500+18A>T (n.1500+18A>T)
c.2523+18A>T (n.2523+18A>T)
 dbSNP
2g.189052893T>CCA2662318319COL5A2c.2661+18A>G (n.2661+18A>G)
c.1500+18A>G (n.1500+18A>G)
c.2523+18A>G (n.2523+18A>G)
 gnomAD v4
2g.189052894T=CA1315426029COL5A2c.2661+17A= (n.2661+17A=)
c.1500+17A= (n.1500+17A=)
c.2523+17A= (n.2523+17A=)
2g.189052894_189052895insGACTCAAGCA2022248COL5A2c.2661+16_2661+17insCTTGAGTC (n.2661+16_2661+17insCTTGAGTC)
c.1500+16_1500+17insCTTGAGTC (n.1500+16_1500+17insCTTGAGTC)
c.2523+16_2523+17insCTTGAGTC (n.2523+16_2523+17insCTTGAGTC)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052897T>CCA2662318320COL5A2c.2661+14A>G (n.2661+14A>G)
c.1500+14A>G (n.1500+14A>G)
c.2523+14A>G (n.2523+14A>G)
 gnomAD v4
2g.189052898C>ACA2022249COL5A2c.2661+13G>T (n.2661+13G>T)
c.1500+13G>T (n.1500+13G>T)
c.2523+13G>T (n.2523+13G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052898C=CA1315426030COL5A2c.2661+13G= (n.2661+13G=)
c.1500+13G= (n.1500+13G=)
c.2523+13G= (n.2523+13G=)
2g.189052899T>CCA2577186593COL5A2c.2661+12A>G (n.2661+12A>G)
c.1500+12A>G (n.1500+12A>G)
c.2523+12A>G (n.2523+12A>G)
2g.189052900T>CCA2022250COL5A2c.2661+11A>G (n.2661+11A>G)
c.1500+11A>G (n.1500+11A>G)
c.2523+11A>G (n.2523+11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052900T=CA1315426031COL5A2c.2661+11A= (n.2661+11A=)
c.1500+11A= (n.1500+11A=)
c.2523+11A= (n.2523+11A=)
2g.189052901G>ACA2580065305COL5A2c.2661+10C>T (n.2661+10C>T)
c.1500+10C>T (n.1500+10C>T)
c.2523+10C>T (n.2523+10C>T)
 ClinVar
2g.189052901G>TCA2740096387COL5A2c.2661+10C>A (n.2661+10C>A)
c.1500+10C>A (n.1500+10C>A)
c.2523+10C>A (n.2523+10C>A)
 ClinVar
2g.189052903T>CCA2022251COL5A2c.2661+8A>G (n.2661+8A>G)
c.1500+8A>G (n.1500+8A>G)
c.2523+8A>G (n.2523+8A>G)
 dbSNP ExAC gnomAD v2
2g.189052903T=CA1315426032COL5A2c.2661+8A= (n.2661+8A=)
c.1500+8A= (n.1500+8A=)
c.2523+8A= (n.2523+8A=)
2g.189052904A>GCA2577186594COL5A2c.2661+7T>C (n.2661+7T>C)
c.1500+7T>C (n.1500+7T>C)
c.2523+7T>C (n.2523+7T>C)
2g.189052907T>CCA2662318321COL5A2c.2661+4A>G (n.2661+4A>G)
c.1500+4A>G (n.1500+4A>G)
c.2523+4A>G (n.2523+4A>G)
 gnomAD v4
2g.189052908T>GCA2662318322COL5A2c.2661+3A>C (n.2661+3A>C)
c.1500+3A>C (n.1500+3A>C)
c.2523+3A>C (n.2523+3A>C)
 gnomAD v4
2g.189052909A>CCA349870858COL5A2c.2661+2T>G (n.2661+2T>G)
c.1500+2T>G (n.1500+2T>G)
c.2523+2T>G (n.2523+2T>G)
2g.189052909A>GCA349870859COL5A2c.2661+2T>C (n.2661+2T>C)
c.1500+2T>C (n.1500+2T>C)
c.2523+2T>C (n.2523+2T>C)
2g.189052909A>TCA349870860COL5A2c.2661+2T>A (n.2661+2T>A)
c.1500+2T>A (n.1500+2T>A)
c.2523+2T>A (n.2523+2T>A)
2g.189052910C>ACA349870863COL5A2c.2661+1G>T (n.2661+1G>T)
c.1500+1G>T (n.1500+1G>T)
c.2523+1G>T (n.2523+1G>T)
2g.189052910C>GCA349870866COL5A2c.2661+1G>C (n.2661+1G>C)
c.1500+1G>C (n.1500+1G>C)
c.2523+1G>C (n.2523+1G>C)
2g.189052910C>TCA349870868COL5A2c.2661+1G>A (n.2661+1G>A)
c.1500+1G>A (n.1500+1G>A)
c.2523+1G>A (n.2523+1G>A)
2g.189052911A=CA1315426033COL5A2c.2661T= (p.His887=)
c.1500T= (p.His500=)
c.2523T= (p.His841=)
2g.189052911A>CCA349870870COL5A2c.2661T>G (p.His887Gln)
c.1500T>G (p.His500Gln)
c.2523T>G (p.His841Gln)
2g.189052911A>GCA2022252COL5A2c.2661T>C (p.His887=)
c.1500T>C (p.His500=)
c.2523T>C (p.His841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052911A>TCA349870874COL5A2c.2661T>A (p.His887Gln)
c.1500T>A (p.His500Gln)
c.2523T>A (p.His841Gln)
 gnomAD v4
2g.189052912T>ACA349870877COL5A2c.2660A>T (p.His887Leu)
c.1499A>T (p.His500Leu)
c.2522A>T (p.His841Leu)
2g.189052912T>CCA349870879COL5A2c.2660A>G (p.His887Arg)
c.1499A>G (p.His500Arg)
c.2522A>G (p.His841Arg)
2g.189052912T>GCA349870881COL5A2c.2660A>C (p.His887Pro)
c.1499A>C (p.His500Pro)
c.2522A>C (p.His841Pro)
2g.189052913G>ACA349870887COL5A2c.2659C>T (p.His887Tyr)
c.1498C>T (p.His500Tyr)
c.2521C>T (p.His841Tyr)
 gnomAD v4
2g.189052913G>CCA349870885COL5A2c.2659C>G (p.His887Asp)
c.1498C>G (p.His500Asp)
c.2521C>G (p.His841Asp)
2g.189052913G>TCA349870883COL5A2c.2659C>A (p.His887Asn)
c.1498C>A (p.His500Asn)
c.2521C>A (p.His841Asn)
2g.189052914A>CCA430322997COL5A2c.2658T>G (p.Pro886=)
c.1497T>G (p.Pro499=)
c.2520T>G (p.Pro840=)
2g.189052914A>GCA430322998COL5A2c.2658T>C (p.Pro886=)
c.1497T>C (p.Pro499=)
c.2520T>C (p.Pro840=)
2g.189052914A>TCA430323000COL5A2c.2658T>A (p.Pro886=)
c.1497T>A (p.Pro499=)
c.2520T>A (p.Pro840=)
2g.189052915G>ACA349870893COL5A2c.2657C>T (p.Pro886Leu)
c.1496C>T (p.Pro499Leu)
c.2519C>T (p.Pro840Leu)
2g.189052915G>CCA349870892COL5A2c.2657C>G (p.Pro886Arg)
c.1496C>G (p.Pro499Arg)
c.2519C>G (p.Pro840Arg)
2g.189052915G>TCA349870895COL5A2c.2657C>A (p.Pro886His)
c.1496C>A (p.Pro499His)
c.2519C>A (p.Pro840His)
2g.189052916G>ACA349870897COL5A2c.2656C>T (p.Pro886Ser)
c.1495C>T (p.Pro499Ser)
c.2518C>T (p.Pro840Ser)
 COSMIC
2g.189052916G>CCA349870898COL5A2c.2656C>G (p.Pro886Ala)
c.1495C>G (p.Pro499Ala)
c.2518C>G (p.Pro840Ala)
2g.189052916G>TCA349870900COL5A2c.2656C>A (p.Pro886Thr)
c.1495C>A (p.Pro499Thr)
c.2518C>A (p.Pro840Thr)
2g.189052917G>ACA430323002COL5A2c.2655C>T (p.Gly885=)
c.1494C>T (p.Gly498=)
c.2517C>T (p.Gly839=)
2g.189052917G>CCA430323005COL5A2c.2655C>G (p.Gly885=)
c.1494C>G (p.Gly498=)
c.2517C>G (p.Gly839=)
2g.189052917G>TCA430323004COL5A2c.2655C>A (p.Gly885=)
c.1494C>A (p.Gly498=)
c.2517C>A (p.Gly839=)
2g.189052918C>ACA349870901COL5A2c.2654G>T (p.Gly885Val)
c.1493G>T (p.Gly498Val)
c.2516G>T (p.Gly839Val)
2g.189052918C>GCA349870903COL5A2c.2654G>C (p.Gly885Ala)
c.1493G>C (p.Gly498Ala)
c.2516G>C (p.Gly839Ala)
2g.189052918C>TCA349870905COL5A2c.2654G>A (p.Gly885Asp)
c.1493G>A (p.Gly498Asp)
c.2516G>A (p.Gly839Asp)
2g.189052919C>ACA349870907COL5A2c.2653G>T (p.Gly885Cys)
c.1492G>T (p.Gly498Cys)
c.2515G>T (p.Gly839Cys)
2g.189052919C>GCA349870908COL5A2c.2653G>C (p.Gly885Arg)
c.1492G>C (p.Gly498Arg)
c.2515G>C (p.Gly839Arg)
2g.189052919C>TCA349870910COL5A2c.2653G>A (p.Gly885Ser)
c.1492G>A (p.Gly498Ser)
c.2515G>A (p.Gly839Ser)
 ClinVar
2g.189052920A>CCA430323009COL5A2c.2652T>G (p.Pro884=)
c.1491T>G (p.Pro497=)
c.2514T>G (p.Pro838=)
2g.189052920A>GCA430323011COL5A2c.2652T>C (p.Pro884=)
c.1491T>C (p.Pro497=)
c.2514T>C (p.Pro838=)
2g.189052920A>TCA430323010COL5A2c.2652T>A (p.Pro884=)
c.1491T>A (p.Pro497=)
c.2514T>A (p.Pro838=)
2g.189052921G>ACA349870912COL5A2c.2651C>T (p.Pro884Leu)
c.1490C>T (p.Pro497Leu)
c.2513C>T (p.Pro838Leu)
 dbSNP
2g.189052921G>CCA349870914COL5A2c.2651C>G (p.Pro884Arg)
c.1490C>G (p.Pro497Arg)
c.2513C>G (p.Pro838Arg)
2g.189052921G=CA1315426034COL5A2c.2651C= (p.Pro884=)
c.1490C= (p.Pro497=)
c.2513C= (p.Pro838=)
2g.189052921G>TCA349870915COL5A2c.2651C>A (p.Pro884His)
c.1490C>A (p.Pro497His)
c.2513C>A (p.Pro838His)
2g.189052922G>ACA349870921COL5A2c.2650C>T (p.Pro884Ser)
c.1489C>T (p.Pro497Ser)
c.2512C>T (p.Pro838Ser)
 COSMIC
2g.189052922G>CCA349870919COL5A2c.2650C>G (p.Pro884Ala)
c.1489C>G (p.Pro497Ala)
c.2512C>G (p.Pro838Ala)
2g.189052922G>TCA349870917COL5A2c.2650C>A (p.Pro884Thr)
c.1489C>A (p.Pro497Thr)
c.2512C>A (p.Pro838Thr)
 ClinVar
2g.189052923G>ACA430323017COL5A2c.2649C>T (p.Ser883=)
c.1488C>T (p.Ser496=)
c.2511C>T (p.Ser837=)
2g.189052923G>CCA430323015COL5A2c.2649C>G (p.Ser883=)
c.1488C>G (p.Ser496=)
c.2511C>G (p.Ser837=)
2g.189052923G=CA1315426035COL5A2c.2649C= (p.Ser883=)
c.1488C= (p.Ser496=)
c.2511C= (p.Ser837=)
2g.189052923G>TCA430323013COL5A2c.2649C>A (p.Ser883=)
c.1488C>A (p.Ser496=)
c.2511C>A (p.Ser837=)
 dbSNP gnomAD v3 gnomAD v4
2g.189052924G>ACA349870923COL5A2c.2648C>T (p.Ser883Phe)
c.1487C>T (p.Ser496Phe)
c.2510C>T (p.Ser837Phe)
 gnomAD v4
2g.189052924G>CCA349870924COL5A2c.2648C>G (p.Ser883Cys)
c.1487C>G (p.Ser496Cys)
c.2510C>G (p.Ser837Cys)
2g.189052924G=CA1315426036COL5A2c.2648C= (p.Ser883=)
c.1487C= (p.Ser496=)
c.2510C= (p.Ser837=)
2g.189052924G>TCA323893COL5A2c.2648C>A (p.Ser883Tyr)
c.1487C>A (p.Ser496Tyr)
c.2510C>A (p.Ser837Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052925A>CCA349870929COL5A2c.2647T>G (p.Ser883Ala)
c.1486T>G (p.Ser496Ala)
c.2509T>G (p.Ser837Ala)
2g.189052925A>GCA349870930COL5A2c.2647T>C (p.Ser883Pro)
c.1486T>C (p.Ser496Pro)
c.2509T>C (p.Ser837Pro)
2g.189052925A>TCA349870933COL5A2c.2647T>A (p.Ser883Thr)
c.1486T>A (p.Ser496Thr)
c.2509T>A (p.Ser837Thr)
 ClinVar gnomAD v4
2g.189052926T>ACA430323018COL5A2c.2646A>T (p.Gly882=)
c.1485A>T (p.Gly495=)
c.2508A>T (p.Gly836=)
2g.189052926T>CCA430323020COL5A2c.2646A>G (p.Gly882=)
c.1485A>G (p.Gly495=)
c.2508A>G (p.Gly836=)
2g.189052926T>GCA430323019COL5A2c.2646A>C (p.Gly882=)
c.1485A>C (p.Gly495=)
c.2508A>C (p.Gly836=)
2g.189052927C>ACA349870937COL5A2c.2645G>T (p.Gly882Val)
c.1484G>T (p.Gly495Val)
c.2507G>T (p.Gly836Val)
2g.189052927C>GCA349870940COL5A2c.2645G>C (p.Gly882Ala)
c.1484G>C (p.Gly495Ala)
c.2507G>C (p.Gly836Ala)
2g.189052927C>TCA349870943COL5A2c.2645G>A (p.Gly882Glu)
c.1484G>A (p.Gly495Glu)
c.2507G>A (p.Gly836Glu)
2g.189052928C>ACA349870947COL5A2c.2644G>T (p.Gly882Ter)
c.1483G>T (p.Gly495Ter)
c.2506G>T (p.Gly836Ter)
2g.189052928C>GCA349870950COL5A2c.2644G>C (p.Gly882Arg)
c.1483G>C (p.Gly495Arg)
c.2506G>C (p.Gly836Arg)
2g.189052928C>TCA349870954COL5A2c.2644G>A (p.Gly882Arg)
c.1483G>A (p.Gly495Arg)
c.2506G>A (p.Gly836Arg)
 gnomAD v4
2g.189052929T>ACA430323024COL5A2c.2643A>T (p.Ala881=)
c.1482A>T (p.Ala494=)
c.2505A>T (p.Ala835=)
2g.189052929T>CCA430323025COL5A2c.2643A>G (p.Ala881=)
c.1482A>G (p.Ala494=)
c.2505A>G (p.Ala835=)
 gnomAD v4
2g.189052929T>GCA430323026COL5A2c.2643A>C (p.Ala881=)
c.1482A>C (p.Ala494=)
c.2505A>C (p.Ala835=)
2g.189052930G>ACA349870963COL5A2c.2642C>T (p.Ala881Val)
c.1481C>T (p.Ala494Val)
c.2504C>T (p.Ala835Val)
 ClinVar dbSNP gnomAD v4
2g.189052930G>CCA349870961COL5A2c.2642C>G (p.Ala881Gly)
c.1481C>G (p.Ala494Gly)
c.2504C>G (p.Ala835Gly)
2g.189052930G=CA1315426037COL5A2c.2642C= (p.Ala881=)
c.1481C= (p.Ala494=)
c.2504C= (p.Ala835=)
2g.189052930G>TCA349870958COL5A2c.2642C>A (p.Ala881Glu)
c.1481C>A (p.Ala494Glu)
c.2504C>A (p.Ala835Glu)
2g.189052931C>ACA349870965COL5A2c.2641G>T (p.Ala881Ser)
c.1480G>T (p.Ala494Ser)
c.2503G>T (p.Ala835Ser)
 ClinVar dbSNP gnomAD v4
2g.189052931C=CA1315426038COL5A2c.2641G= (p.Ala881=)
c.1480G= (p.Ala494=)
c.2503G= (p.Ala835=)
2g.189052931C>GCA349870968COL5A2c.2641G>C (p.Ala881Pro)
c.1480G>C (p.Ala494Pro)
c.2503G>C (p.Ala835Pro)
2g.189052931C>TCA2022253COL5A2c.2641G>A (p.Ala881Thr)
c.1480G>A (p.Ala494Thr)
c.2503G>A (p.Ala835Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052932T>ACA349870974COL5A2c.2640A>T (p.Leu880Phe)
c.1479A>T (p.Leu493Phe)
c.2502A>T (p.Leu834Phe)
2g.189052932T>CCA430323028COL5A2c.2640A>G (p.Leu880=)
c.1479A>G (p.Leu493=)
c.2502A>G (p.Leu834=)
 dbSNP gnomAD v3 gnomAD v4
2g.189052932T>GCA349870976COL5A2c.2640A>C (p.Leu880Phe)
c.1479A>C (p.Leu493Phe)
c.2502A>C (p.Leu834Phe)
2g.189052932T=CA1315426039COL5A2c.2640A= (p.Leu880=)
c.1479A= (p.Leu493=)
c.2502A= (p.Leu834=)
2g.189052933A>CCA349870980COL5A2c.2639T>G (p.Leu880Ter)
c.1478T>G (p.Leu493Ter)
c.2501T>G (p.Leu834Ter)
2g.189052933A>GCA349870983COL5A2c.2639T>C (p.Leu880Ser)
c.1478T>C (p.Leu493Ser)
c.2501T>C (p.Leu834Ser)
2g.189052933A>TCA349870985COL5A2c.2639T>A (p.Leu880Ter)
c.1478T>A (p.Leu493Ter)
c.2501T>A (p.Leu834Ter)
2g.189052934A>CCA349870988COL5A2c.2638T>G (p.Leu880Val)
c.1477T>G (p.Leu493Val)
c.2500T>G (p.Leu834Val)
2g.189052934A>GCA430323030COL5A2c.2638T>C (p.Leu880=)
c.1477T>C (p.Leu493=)
c.2500T>C (p.Leu834=)
2g.189052934A>TCA349870991COL5A2c.2638T>A (p.Leu880Ile)
c.1477T>A (p.Leu493Ile)
c.2500T>A (p.Leu834Ile)
2g.189052935A>CCA430323031COL5A2c.2637T>G (p.Gly879=)
c.1476T>G (p.Gly492=)
c.2499T>G (p.Gly833=)
 dbSNP
2g.189052935A>GCA430323032COL5A2c.2637T>C (p.Gly879=)
c.1476T>C (p.Gly492=)
c.2499T>C (p.Gly833=)
2g.189052935A>TCA430323033COL5A2c.2637T>A (p.Gly879=)
c.1476T>A (p.Gly492=)
c.2499T>A (p.Gly833=)
2g.189052936C>ACA349870995COL5A2c.2636G>T (p.Gly879Val)
c.1475G>T (p.Gly492Val)
c.2498G>T (p.Gly833Val)
2g.189052936C>GCA349870998COL5A2c.2636G>C (p.Gly879Ala)
c.1475G>C (p.Gly492Ala)
c.2498G>C (p.Gly833Ala)
2g.189052936C>TCA349870999COL5A2c.2636G>A (p.Gly879Asp)
c.1475G>A (p.Gly492Asp)
c.2498G>A (p.Gly833Asp)
2g.189052937C>ACA349871007COL5A2c.2635G>T (p.Gly879Cys)
c.1474G>T (p.Gly492Cys)
c.2497G>T (p.Gly833Cys)
2g.189052937C>GCA349871002COL5A2c.2635G>C (p.Gly879Arg)
c.1474G>C (p.Gly492Arg)
c.2497G>C (p.Gly833Arg)
2g.189052937C>TCA349871004COL5A2c.2635G>A (p.Gly879Ser)
c.1474G>A (p.Gly492Ser)
c.2497G>A (p.Gly833Ser)
2g.189052938T>ACA349871010COL5A2c.2634A>T (p.Gln878His)
c.1473A>T (p.Gln491His)
c.2496A>T (p.Gln832His)
 ClinVar gnomAD v4
2g.189052938T>CCA2022254COL5A2c.2634A>G (p.Gln878=)
c.1473A>G (p.Gln491=)
c.2496A>G (p.Gln832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052938T>GCA349871014COL5A2c.2634A>C (p.Gln878His)
c.1473A>C (p.Gln491His)
c.2496A>C (p.Gln832His)
2g.189052938T=CA1315426040COL5A2c.2634A= (p.Gln878=)
c.1473A= (p.Gln491=)
c.2496A= (p.Gln832=)
2g.189052939T>ACA349871020COL5A2c.2633A>T (p.Gln878Leu)
c.1472A>T (p.Gln491Leu)
c.2495A>T (p.Gln832Leu)
2g.189052939T>CCA2022255COL5A2c.2633A>G (p.Gln878Arg)
c.1472A>G (p.Gln491Arg)
c.2495A>G (p.Gln832Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052939T>GCA349871023COL5A2c.2633A>C (p.Gln878Pro)
c.1472A>C (p.Gln491Pro)
c.2495A>C (p.Gln832Pro)
2g.189052939T=CA1315426041COL5A2c.2633A= (p.Gln878=)
c.1472A= (p.Gln491=)
c.2495A= (p.Gln832=)
2g.189052940G>ACA349871027COL5A2c.2632C>T (p.Gln878Ter)
c.1471C>T (p.Gln491Ter)
c.2494C>T (p.Gln832Ter)
2g.189052940G>CCA349871029COL5A2c.2632C>G (p.Gln878Glu)
c.1471C>G (p.Gln491Glu)
c.2494C>G (p.Gln832Glu)
2g.189052940G>TCA349871032COL5A2c.2632C>A (p.Gln878Lys)
c.1471C>A (p.Gln491Lys)
c.2494C>A (p.Gln832Lys)
2g.189052941T>ACA430323035COL5A2c.2631A>T (p.Pro877=)
c.1470A>T (p.Pro490=)
c.2493A>T (p.Pro831=)
2g.189052941T>CCA430323037COL5A2c.2631A>G (p.Pro877=)
c.1470A>G (p.Pro490=)
c.2493A>G (p.Pro831=)
2g.189052941T>GCA430323036COL5A2c.2631A>C (p.Pro877=)
c.1470A>C (p.Pro490=)
c.2493A>C (p.Pro831=)
2g.189052941T=CA1315426042COL5A2c.2631A= (p.Pro877=)
c.1470A= (p.Pro490=)
c.2493A= (p.Pro831=)
2g.189052941_189052942insTTACA538452226COL5A2c.2630_2631insTAA (p.Pro877_Gln878insLys)
c.1469_1470insTAA (p.Pro490_Gln491insLys)
c.2492_2493insTAA (p.Pro831_Gln832insLys)
 dbSNP gnomAD v2 gnomAD v4
2g.189052942G>ACA349871036COL5A2c.2630C>T (p.Pro877Leu)
c.1469C>T (p.Pro490Leu)
c.2492C>T (p.Pro831Leu)
2g.189052942G>CCA349871039COL5A2c.2630C>G (p.Pro877Arg)
c.1469C>G (p.Pro490Arg)
c.2492C>G (p.Pro831Arg)
2g.189052942G>TCA349871041COL5A2c.2630C>A (p.Pro877Gln)
c.1469C>A (p.Pro490Gln)
c.2492C>A (p.Pro831Gln)
2g.189052942_189052945delinsGGTCCA1315426043COL5A2c.2627_2630delinsGACC (p.Gly876=)
c.1466_1469delinsGACC (p.Gly489=)
c.2489_2492delinsGACC (p.Gly830=)
2g.189052943G>ACA349871047COL5A2c.2629C>T (p.Pro877Ser)
c.1468C>T (p.Pro490Ser)
c.2491C>T (p.Pro831Ser)
2g.189052943G>CCA349871052COL5A2c.2629C>G (p.Pro877Ala)
c.1468C>G (p.Pro490Ala)
c.2491C>G (p.Pro831Ala)
2g.189052943G>TCA349871046COL5A2c.2629C>A (p.Pro877Thr)
c.1468C>A (p.Pro490Thr)
c.2491C>A (p.Pro831Thr)
2g.189052943_189052945delCA538452228COL5A2c.2627_2629del (p.Gly876_Pro877delinsAla)
c.1466_1468del (p.Gly489_Pro490delinsAla)
c.2489_2491del (p.Gly830_Pro831delinsAla)
 dbSNP gnomAD v2 gnomAD v4
2g.189052944T>ACA430323039COL5A2c.2628A>T (p.Gly876=)
c.1467A>T (p.Gly489=)
c.2490A>T (p.Gly830=)
2g.189052944T>CCA430323040COL5A2c.2628A>G (p.Gly876=)
c.1467A>G (p.Gly489=)
c.2490A>G (p.Gly830=)
2g.189052944T>GCA430323041COL5A2c.2628A>C (p.Gly876=)
c.1467A>C (p.Gly489=)
c.2490A>C (p.Gly830=)
2g.189052945C>ACA349871055COL5A2c.2627G>T (p.Gly876Val)
c.1466G>T (p.Gly489Val)
c.2489G>T (p.Gly830Val)
2g.189052945C=CA1315426044COL5A2c.2627G= (p.Gly876=)
c.1466G= (p.Gly489=)
c.2489G= (p.Gly830=)
2g.189052945C>GCA349871059COL5A2c.2627G>C (p.Gly876Ala)
c.1466G>C (p.Gly489Ala)
c.2489G>C (p.Gly830Ala)
 gnomAD v4
2g.189052945C>TCA10588328COL5A2c.2627G>A (p.Gly876Glu)
c.1466G>A (p.Gly489Glu)
c.2489G>A (p.Gly830Glu)
 ClinVar dbSNP
2g.189052946C>ACA349871063COL5A2c.2626G>T (p.Gly876Ter)
c.1465G>T (p.Gly489Ter)
c.2488G>T (p.Gly830Ter)
2g.189052946C>GCA349871066COL5A2c.2626G>C (p.Gly876Arg)
c.1465G>C (p.Gly489Arg)
c.2488G>C (p.Gly830Arg)
2g.189052946C>TCA349871067COL5A2c.2626G>A (p.Gly876Arg)
c.1465G>A (p.Gly489Arg)
c.2488G>A (p.Gly830Arg)
2g.189052947A=CA1315426045COL5A2c.2625T= (p.Pro875=)
c.1464T= (p.Pro488=)
c.2487T= (p.Pro829=)
2g.189052947A>CCA430323044COL5A2c.2625T>G (p.Pro875=)
c.1464T>G (p.Pro488=)
c.2487T>G (p.Pro829=)
2g.189052947A>GCA2022256COL5A2c.2625T>C (p.Pro875=)
c.1464T>C (p.Pro488=)
c.2487T>C (p.Pro829=)
 dbSNP ExAC gnomAD v2
2g.189052947A>TCA430323046COL5A2c.2625T>A (p.Pro875=)
c.1464T>A (p.Pro488=)
c.2487T>A (p.Pro829=)
 gnomAD v4
2g.189052948G>ACA349871070COL5A2c.2624C>T (p.Pro875Leu)
c.1463C>T (p.Pro488Leu)
c.2486C>T (p.Pro829Leu)
2g.189052948G>CCA349871071COL5A2c.2624C>G (p.Pro875Arg)
c.1463C>G (p.Pro488Arg)
c.2486C>G (p.Pro829Arg)
2g.189052948G>TCA349871073COL5A2c.2624C>A (p.Pro875His)
c.1463C>A (p.Pro488His)
c.2486C>A (p.Pro829His)
2g.189052949G>ACA2022257COL5A2c.2623C>T (p.Pro875Ser)
c.1462C>T (p.Pro488Ser)
c.2485C>T (p.Pro829Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052949G>CCA349871077COL5A2c.2623C>G (p.Pro875Ala)
c.1462C>G (p.Pro488Ala)
c.2485C>G (p.Pro829Ala)
 dbSNP gnomAD v4
2g.189052949G=CA1315426046COL5A2c.2623C= (p.Pro875=)
c.1462C= (p.Pro488=)
c.2485C= (p.Pro829=)
2g.189052949G>TCA349871079COL5A2c.2623C>A (p.Pro875Thr)
c.1462C>A (p.Pro488Thr)
c.2485C>A (p.Pro829Thr)
2g.189052950A=CA1315426047COL5A2c.2622T= (p.Ser874=)
c.1461T= (p.Ser487=)
c.2484T= (p.Ser828=)
2g.189052950A>CCA430323048COL5A2c.2622T>G (p.Ser874=)
c.1461T>G (p.Ser487=)
c.2484T>G (p.Ser828=)
2g.189052950A>GCA430323049COL5A2c.2622T>C (p.Ser874=)
c.1461T>C (p.Ser487=)
c.2484T>C (p.Ser828=)
2g.189052950A>TCA430323050COL5A2c.2622T>A (p.Ser874=)
c.1461T>A (p.Ser487=)
c.2484T>A (p.Ser828=)
 dbSNP gnomAD v2 gnomAD v4
2g.189052951G>ACA349871087COL5A2c.2621C>T (p.Ser874Phe)
c.1460C>T (p.Ser487Phe)
c.2483C>T (p.Ser828Phe)
2g.189052951G>CCA349871089COL5A2c.2621C>G (p.Ser874Cys)
c.1460C>G (p.Ser487Cys)
c.2483C>G (p.Ser828Cys)
2g.189052951G>TCA349871091COL5A2c.2621C>A (p.Ser874Tyr)
c.1460C>A (p.Ser487Tyr)
c.2483C>A (p.Ser828Tyr)
2g.189052952A>CCA349871100COL5A2c.2620T>G (p.Ser874Ala)
c.1459T>G (p.Ser487Ala)
c.2482T>G (p.Ser828Ala)
2g.189052952A>GCA349871093COL5A2c.2620T>C (p.Ser874Pro)
c.1459T>C (p.Ser487Pro)
c.2482T>C (p.Ser828Pro)
2g.189052952A>TCA349871095COL5A2c.2620T>A (p.Ser874Thr)
c.1459T>A (p.Ser487Thr)
c.2482T>A (p.Ser828Thr)
2g.189052953A>CCA430323052COL5A2c.2619T>G (p.Gly873=)
c.1458T>G (p.Gly486=)
c.2481T>G (p.Gly827=)
2g.189052953A>GCA430323053COL5A2c.2619T>C (p.Gly873=)
c.1458T>C (p.Gly486=)
c.2481T>C (p.Gly827=)
2g.189052953A>TCA430323054COL5A2c.2619T>A (p.Gly873=)
c.1458T>A (p.Gly486=)
c.2481T>A (p.Gly827=)
2g.189052954C>ACA349871103COL5A2c.2618G>T (p.Gly873Val)
c.1457G>T (p.Gly486Val)
c.2480G>T (p.Gly827Val)
2g.189052954C=CA1315426048COL5A2c.2618G= (p.Gly873=)
c.1457G= (p.Gly486=)
c.2480G= (p.Gly827=)
2g.189052954C>GCA349871106COL5A2c.2618G>C (p.Gly873Ala)
c.1457G>C (p.Gly486Ala)
c.2480G>C (p.Gly827Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189052954C>TCA349871108COL5A2c.2618G>A (p.Gly873Asp)
c.1457G>A (p.Gly486Asp)
c.2480G>A (p.Gly827Asp)
2g.189052955C>ACA349871111COL5A2c.2617G>T (p.Gly873Cys)
c.1456G>T (p.Gly486Cys)
c.2479G>T (p.Gly827Cys)
2g.189052955C>GCA349871113COL5A2c.2617G>C (p.Gly873Arg)
c.1456G>C (p.Gly486Arg)
c.2479G>C (p.Gly827Arg)
2g.189052955C>TCA349871115COL5A2c.2617G>A (p.Gly873Ser)
c.1456G>A (p.Gly486Ser)
c.2479G>A (p.Gly827Ser)

Number of alleles fetched