Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188988622_188988636dup	CA286268	COL3A1	c.615_629dup (p.Gly210_Pro211insProGlyGlnAlaGly)	ClinVar dbSNP
2	g.188988636G>A	CA349848401	COL3A1	c.629G>A (p.Gly210Asp)
2	g.188988636G>C	CA349848402	COL3A1	c.629G>C (p.Gly210Ala)
2	g.188988636G=	CA1315395822	COL3A1	c.629G= (p.Gly210=)
2	g.188988636G>T	CA007157	COL3A1	c.629G>T (p.Gly210Val)	ClinVar dbSNP
2	g.188988637T>A	CA430308975	COL3A1	c.630T>A (p.Gly210=)	ClinVar dbSNP gnomAD v4
2	g.188988637T>C	CA430308976	COL3A1	c.630T>C (p.Gly210=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988637T>G	CA430308977	COL3A1	c.630T>G (p.Gly210=)
2	g.188988637T=	CA1315395824	COL3A1	c.630T= (p.Gly210=)
2	g.188988637_188988649delinsTCCTTCAGTAAGT	CA1315395823	COL3A1	c.630_636+6delinsTCCTTCAGTAAGT
2	g.188988638C>A	CA349848403	COL3A1	c.631C>A (p.Pro211Thr)
2	g.188988638C>G	CA349848404	COL3A1	c.631C>G (p.Pro211Ala)
2	g.188988638C>T	CA349848405	COL3A1	c.631C>T (p.Pro211Ser)
2	g.188988638_188988649delinsTACTAAATATA	CA286411	COL3A1	c.631_636+6delinsTACTAAATATA	ClinVar dbSNP
2	g.188988639C>A	CA349848406	COL3A1	c.632C>A (p.Pro211His)
2	g.188988639C>G	CA349848407	COL3A1	c.632C>G (p.Pro211Arg)
2	g.188988639C>T	CA349848408	COL3A1	c.632C>T (p.Pro211Leu)
2	g.188988640T>A	CA430308978	COL3A1	c.633T>A (p.Pro211=)
2	g.188988640T>C	CA430308979	COL3A1	c.633T>C (p.Pro211=)
2	g.188988640T>G	CA430308980	COL3A1	c.633T>G (p.Pro211=)
2	g.188988641del	CA2577185129	COL3A1	c.634del (p.Ser212GlnfsTer10)
2	g.188988641T>A	CA349848409	COL3A1	c.634T>A (p.Ser212Thr)
2	g.188988641T>C	CA349848410	COL3A1	c.634T>C (p.Ser212Pro)	gnomAD v4
2	g.188988641T>G	CA349848411	COL3A1	c.634T>G (p.Ser212Ala)
2	g.188988642C>A	CA349848412	COL3A1	c.635C>A (p.Ser212Ter)	gnomAD v4
2	g.188988642C=	CA1315395825	COL3A1	c.635C= (p.Ser212=)
2	g.188988642C>G	CA349848413	COL3A1	c.635C>G (p.Ser212Ter)
2	g.188988642C>T	CA349848414	COL3A1	c.635C>T (p.Ser212Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188988642_188988646delinsCAGTA	CA1315395826	COL3A1	c.635_636+3delinsCAGTA
2	g.188988643A>C	CA430308983	COL3A1	c.636A>C (p.Ser212=)
2	g.188988643A>G	CA430308981	COL3A1	c.636A>G (p.Ser212=)	ClinVar
2	g.188988643A>T	CA430308982	COL3A1	c.636A>T (p.Ser212=)
2	g.188988648_188988651del	CA1315395827	COL3A1	c.636+5_636+8del	ClinVar dbSNP
2	g.188988644G>A	CA007166	COL3A1	c.636+1G>A (n.636+1G>A)	ClinVar dbSNP
2	g.188988644G>C	CA349848416	COL3A1	c.636+1G>C (n.636+1G>C)
2	g.188988644G=	CA1315395828	COL3A1	c.636+1G= (n.636+1G=)
2	g.188988644G>T	CA349848415	COL3A1	c.636+1G>T (n.636+1G>T)	ClinVar
2	g.188988645T>A	CA349848417	COL3A1	c.636+2T>A (n.636+2T>A)
2	g.188988645T>C	CA349848418	COL3A1	c.636+2T>C (n.636+2T>C)
2	g.188988645T>G	CA349848419	COL3A1	c.636+2T>G (n.636+2T>G)
2	g.188988647A>T	CA2586965478	COL3A1	c.636+4A>T (n.636+4A>T)
2	g.188988648G>A	CA007173	COL3A1	c.636+5G>A (n.636+5G>A)	ClinVar dbSNP
2	g.188988648G=	CA1315395829	COL3A1	c.636+5G= (n.636+5G=)
2	g.188988648_188988649delinsCA	CA2586965479	COL3A1	c.636+5_636+6delinsCA (n.636+5_636+6delinsCA)
2	g.188988649T>A	CA2577185130	COL3A1	c.636+6T>A (n.636+6T>A)
2	g.188988649T>C	CA076766	COL3A1	c.636+6T>C (n.636+6T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988649T=	CA1315395830	COL3A1	c.636+6T= (n.636+6T=)
2	g.188988650A>G	CA2662286500	COL3A1	c.636+7A>G (n.636+7A>G)	gnomAD v4
2	g.188988650_188988651insGAATATGTAA	CA2549526565	COL3A1	c.636+7_636+8insGAATATGTAA (n.636+7_636+8insGAATATGTAA)
2	g.188988652C>A	CA2662286501	COL3A1	c.636+9C>A (n.636+9C>A)	gnomAD v4
2	g.188988652C>T	CA2522396436	COL3A1	c.636+9C>T (n.636+9C>T)
2	g.188988653A>G	CA2662286502	COL3A1	c.636+10A>G (n.636+10A>G)	gnomAD v4
2	g.188988655_188988658del	CA2697551434	COL3A1	c.636+12_636+15del (n.636+12_636+15del)	ClinVar
2	g.188988654A=	CA1315395831	COL3A1	c.636+11A= (n.636+11A=)
2	g.188988654A>G	CA538441020	COL3A1	c.636+11A>G (n.636+11A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988655T>A	CA2701023242	COL3A1	c.636+12T>A (n.636+12T>A)	dbSNP
2	g.188988655T>C	CA2697551435	COL3A1	c.636+12T>C (n.636+12T>C)	ClinVar
2	g.188988655T>G	CA076744	COL3A1	c.636+12T>G (n.636+12T>G)	dbSNP ExAC gnomAD v2
2	g.188988655T=	CA1315395832	COL3A1	c.636+12T= (n.636+12T=)
2	g.188988656dup	CA1040404081	COL3A1	c.636+13dup (n.636+13dup)	dbSNP gnomAD v3 gnomAD v4
2	g.188988656T>A	CA2662286503	COL3A1	c.636+13T>A (n.636+13T>A)	gnomAD v4
2	g.188988657A=	CA1315395833	COL3A1	c.636+14A= (n.636+14A=)
2	g.188988657A>C	CA538441021	COL3A1	c.636+14A>C (n.636+14A>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988658A=	CA1315395834	COL3A1	c.636+15A= (n.636+15A=)
2	g.188988658A>C	CA762191556	COL3A1	c.636+15A>C (n.636+15A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188988658A>G	CA2662286504	COL3A1	c.636+15A>G (n.636+15A>G)	gnomAD v4
2	g.188988658A>T	CA2541634882	COL3A1	c.636+15A>T (n.636+15A>T)
2	g.188988659A>G	CA2662286505	COL3A1	c.636+16A>G (n.636+16A>G)	gnomAD v4
2	g.188988659A>T	CA2662286507	COL3A1	c.636+16A>T (n.636+16A>T)	gnomAD v4
2	g.188988660T>A	CA62588759	COL3A1	c.636+17T>A (n.636+17T>A)	ClinVar dbSNP gnomAD v4
2	g.188988660T=	CA1315395835	COL3A1	c.636+17T= (n.636+17T=)
2	g.188988662del	CA2577185131	COL3A1	c.636+19del (n.636+19del)	gnomAD v4
2	g.188988661T>C	CA2531159155	COL3A1	c.636+18T>C (n.636+18T>C)
2	g.188988663A>G	CA2662286508	COL3A1	c.636+20A>G (n.636+20A>G)	gnomAD v4
2	g.188988665A=	CA1315395836	COL3A1	c.636+22A= (n.636+22A=)
2	g.188988665A>G	CA762191558	COL3A1	c.636+22A>G (n.636+22A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988666T>G	CA538441022	COL3A1	c.636+23T>G (n.636+23T>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188988666T=	CA1315395837	COL3A1	c.636+23T= (n.636+23T=)
2	g.188988668del	CA2577185132	COL3A1	c.636+25del (n.636+25del)	gnomAD v4
2	g.188988668T>C	CA2662286509	COL3A1	c.636+25T>C (n.636+25T>C)	gnomAD v4
2	g.188988669A>G	CA2662286510	COL3A1	c.636+26A>G (n.636+26A>G)	gnomAD v4
2	g.188988670G>A	CA076746	COL3A1	c.636+27G>A (n.636+27G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988670G=	CA1315395838	COL3A1	c.636+27G= (n.636+27G=)
2	g.188988671T>A	CA2577185133	COL3A1	c.636+28T>A (n.636+28T>A)
2	g.188988671T>C	CA076747	COL3A1	c.636+28T>C (n.636+28T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988671T=	CA1315395839	COL3A1	c.636+28T= (n.636+28T=)
2	g.188988672A=	CA1315395840	COL3A1	c.636+29A= (n.636+29A=)
2	g.188988672A>G	CA076749	COL3A1	c.636+29A>G (n.636+29A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988673del	CA2662286514	COL3A1	c.636+30del (n.636+30del)	gnomAD v4
2	g.188988673A>G	CA2662286516	COL3A1	c.636+30A>G (n.636+30A>G)	gnomAD v4
2	g.188988674G>A	CA2577185134	COL3A1	c.636+31G>A (n.636+31G>A)	gnomAD v4
2	g.188988674G>C	CA2577185135	COL3A1	c.636+31G>C (n.636+31G>C)
2	g.188988675T>A	CA076751	COL3A1	c.636+32T>A (n.636+32T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988675T>C	CA62588790	COL3A1	c.636+32T>C (n.636+32T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988675T=	CA1315395841	COL3A1	c.636+32T= (n.636+32T=)
2	g.188988676C>A	CA2662286518	COL3A1	c.636+33C>A (n.636+33C>A)	gnomAD v4
2	g.188988676C=	CA1315395842	COL3A1	c.636+33C= (n.636+33C=)
2	g.188988676C>T	CA076752	COL3A1	c.636+33C>T (n.636+33C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988677G>A	CA076753	COL3A1	c.636+34G>A (n.636+34G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988677G=	CA1315395843	COL3A1	c.636+34G= (n.636+34G=)
2	g.188988677G>T	CA076755	COL3A1	c.636+34G>T (n.636+34G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988678A=	CA1315395844	COL3A1	c.636+35A= (n.636+35A=)
2	g.188988678A>G	CA2662286521	COL3A1	c.636+35A>G (n.636+35A>G)	gnomAD v4
2	g.188988678A>T	CA076756	COL3A1	c.636+35A>T (n.636+35A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988679T>C	CA2662286522	COL3A1	c.636+36T>C (n.636+36T>C)	gnomAD v4
2	g.188988680A>T	CA2577185136	COL3A1	c.636+37A>T (n.636+37A>T)
2	g.188988682T>A	CA2662286523	COL3A1	c.636+39T>A (n.636+39T>A)	gnomAD v4
2	g.188988682T>C	CA2662286524	COL3A1	c.636+39T>C (n.636+39T>C)	gnomAD v4
2	g.188988684C>A	CA2577185137	COL3A1	c.636+41C>A (n.636+41C>A)	gnomAD v4
2	g.188988684C>T	CA2662286525	COL3A1	c.636+41C>T (n.636+41C>T)	gnomAD v4
2	g.188988685del	CA2662286526	COL3A1	c.636+42del (n.636+42del)	gnomAD v4
2	g.188988685C>A	CA2662286527	COL3A1	c.636+42C>A (n.636+42C>A)	gnomAD v4
2	g.188988686A>G	CA2662286528	COL3A1	c.636+43A>G (n.636+43A>G)	gnomAD v4
2	g.188988688A=	CA1315395845	COL3A1	c.636+45A= (n.636+45A=)
2	g.188988688A>G	CA076758	COL3A1	c.636+45A>G (n.636+45A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988690G>A	CA762191573	COL3A1	c.636+47G>A (n.636+47G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188988690G=	CA1315395846	COL3A1	c.636+47G= (n.636+47G=)
2	g.188988691del	CA2577185138	COL3A1	c.636+48del (n.636+48del)
2	g.188988692A=	CA1315395847	COL3A1	c.636+49A= (n.636+49A=)
2	g.188988692A>G	CA076760	COL3A1	c.636+49A>G (n.636+49A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988693A=	CA1315395848	COL3A1	c.636+50A= (n.636+50A=)
2	g.188988693A>G	CA076762	COL3A1	c.636+50A>G (n.636+50A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988694C>A	CA2577185139	COL3A1	c.636+51C>A (n.636+51C>A)
2	g.188988694C=	CA1315395849	COL3A1	c.636+51C= (n.636+51C=)
2	g.188988694C>G	CA762191574	COL3A1	c.636+51C>G (n.636+51C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988694C>T	CA762191575	COL3A1	c.636+51C>T (n.636+51C>T)	dbSNP
2	g.188988695C=	CA1315395850	COL3A1	c.636+52C= (n.636+52C=)
2	g.188988695C>G	CA076763	COL3A1	c.636+52C>G (n.636+52C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988695C>T	CA076765	COL3A1	c.636+52C>T (n.636+52C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988697A=	CA1315395851	COL3A1	c.636+54A= (n.636+54A=)
2	g.188988697A>G	CA1040404096	COL3A1	c.636+54A>G (n.636+54A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988698C=	CA1315395852	COL3A1	c.636+55C= (n.636+55C=)
2	g.188988698C>T	CA1040404099	COL3A1	c.636+55C>T (n.636+55C>T)	dbSNP
2	g.188988699C>A	CA2662286531	COL3A1	c.636+56C>A (n.636+56C>A)	gnomAD v4
2	g.188988702dup	CA2662286532	COL3A1	c.636+59dup (n.636+59dup)	gnomAD v4
2	g.188988702T>C	CA1040404111	COL3A1	c.636+59T>C (n.636+59T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188988702T=	CA1315395853	COL3A1	c.636+59T= (n.636+59T=)
2	g.188988703del	CA647380666	COL3A1	c.636+60del (n.636+60del)	COSMIC
2	g.188988703G>T	CA2662286533	COL3A1	c.636+60G>T (n.636+60G>T)	gnomAD v4
2	g.188988707T>C	CA2577185140	COL3A1	c.636+64T>C (n.636+64T>C)
2	g.188988708C>A	CA538441023	COL3A1	c.636+65C>A (n.636+65C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988708C=	CA1315395854	COL3A1	c.636+65C= (n.636+65C=)
2	g.188988708C>T	CA2662286534	COL3A1	c.636+65C>T (n.636+65C>T)	gnomAD v4
2	g.188988709T>A	CA2662286535	COL3A1	c.636+66T>A (n.636+66T>A)	gnomAD v4
2	g.188988709T>G	CA2577185141	COL3A1	c.636+66T>G (n.636+66T>G)	gnomAD v4
2	g.188988710A=	CA1315395855	COL3A1	c.636+67A= (n.636+67A=)
2	g.188988710A>G	CA762191583	COL3A1	c.636+67A>G (n.636+67A>G)	dbSNP gnomAD v4
2	g.188988714C>A	CA2662286536	COL3A1	c.636+71C>A (n.636+71C>A)	gnomAD v4
2	g.188988715A>C	CA2662286537	COL3A1	c.636+72A>C (n.636+72A>C)	gnomAD v4
2	g.188988716_188988717insAG	CA2662286538	COL3A1	c.636+73_636+74insAG (n.636+73_636+74insAG)	gnomAD v4
2	g.188988717G>T	CA2662286541	COL3A1	c.636+74G>T (n.636+74G>T)	gnomAD v4
2	g.188988717_188988720del	CA2662286539	COL3A1	c.636+74_636+77del (n.636+74_636+77del)	gnomAD v4
2	g.188988719A=	CA1315395856	COL3A1	c.636+76A= (n.636+76A=)
2	g.188988719A>G	CA62588866	COL3A1	c.636+76A>G (n.636+76A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988720T>C	CA1315395858	COL3A1	c.636+77T>C (n.636+77T>C)	dbSNP gnomAD v4
2	g.188988720T=	CA1315395857	COL3A1	c.636+77T= (n.636+77T=)
2	g.188988723_188988732del	CA2662286543	COL3A1	c.636+80_636+89del (n.636+80_636+89del)	gnomAD v4
2	g.188988722G>T	CA2662286544	COL3A1	c.636+79G>T (n.636+79G>T)	gnomAD v4
2	g.188988723G>A	CA2662286546	COL3A1	c.636+80G>A (n.636+80G>A)	gnomAD v4
2	g.188988723G>C	CA2662286547	COL3A1	c.636+80G>C (n.636+80G>C)	gnomAD v4
2	g.188988723G>T	CA2662286545	COL3A1	c.636+80G>T (n.636+80G>T)	gnomAD v4
2	g.188988725C>A	CA2662286548	COL3A1	c.636+82C>A (n.636+82C>A)	gnomAD v4
2	g.188988726T>C	CA2662286549	COL3A1	c.636+83T>C (n.636+83T>C)	gnomAD v4
2	g.188988728T>C	CA1040404115	COL3A1	c.636+85T>C (n.636+85T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188988728T>G	CA2662286550	COL3A1	c.636+85T>G (n.636+85T>G)	gnomAD v4
2	g.188988728T=	CA1315395859	COL3A1	c.636+85T= (n.636+85T=)
2	g.188988729A=	CA1315395860	COL3A1	c.636+86A= (n.636+86A=)
2	g.188988729A>C	CA62588879	COL3A1	c.636+86A>C (n.636+86A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188988729A>G	CA1315395861	COL3A1	c.636+86A>G (n.636+86A>G)	dbSNP gnomAD v4
2	g.188988729A>T	CA2662286552	COL3A1	c.636+86A>T (n.636+86A>T)	gnomAD v4
2	g.188988730C>A	CA762191586	COL3A1	c.636+87C>A (n.636+87C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188988730C=	CA1315395862	COL3A1	c.636+87C= (n.636+87C=)
2	g.188988730C>G	CA2662286553	COL3A1	c.636+87C>G (n.636+87C>G)	gnomAD v4
2	g.188988732_188988733del	CA2662286554	COL3A1	c.636+89_636+90del (n.636+89_636+90del)	gnomAD v4
2	g.188988732G>T	CA2662286555	COL3A1	c.636+89G>T (n.636+89G>T)	gnomAD v4
2	g.188988734A=	CA1315395863	COL3A1	c.636+91A= (n.636+91A=)
2	g.188988734A>G	CA62588883	COL3A1	c.636+91A>G (n.636+91A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988735T>C	CA2662286558	COL3A1	c.636+92T>C (n.636+92T>C)	gnomAD v4
2	g.188988735T>G	CA1315395865	COL3A1	c.636+92T>G (n.636+92T>G)	dbSNP gnomAD v4
2	g.188988735T=	CA1315395864	COL3A1	c.636+92T= (n.636+92T=)
2	g.188988736G>A	CA538441024	COL3A1	c.636+93G>A (n.636+93G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988736G=	CA1315395866	COL3A1	c.636+93G= (n.636+93G=)
2	g.188988736G>T	CA62588889	COL3A1	c.636+93G>T (n.636+93G>T)	dbSNP gnomAD v4

Number of alleles fetched