Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.6877733C>A	CA579664741	DEFB1	c.61+64G>T (n.61+64G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877733C=	CA1761188545	DEFB1	c.61+64G= (n.61+64G=)
8	g.6877733C>T	CA171486055	DEFB1	c.61+64G>A (n.61+64G>A)	dbSNP gnomAD v4
8	g.6877735C=	CA1761188546	DEFB1	c.61+62G= (n.61+62G=)
8	g.6877735C>G	CA1761188547	DEFB1	c.61+62G>C (n.61+62G>C)	dbSNP gnomAD v4
8	g.6877735C>T	CA2686023116	DEFB1	c.61+62G>A (n.61+62G>A)	gnomAD v4
8	g.6877736A=	CA1761188548	DEFB1	c.61+61T= (n.61+61T=)
8	g.6877736A>G	CA2686023117	DEFB1	c.61+61T>C (n.61+61T>C)	gnomAD v4
8	g.6877736A>T	CA1110233945	DEFB1	c.61+61T>A (n.61+61T>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877737C>A	CA2686023119	DEFB1	c.61+60G>T (n.61+60G>T)	gnomAD v4
8	g.6877739_6877741del	CA2686023118	DEFB1	c.61+58_61+60del (n.61+58_61+60del)	gnomAD v4
8	g.6877738A=	CA1761188549	DEFB1	c.61+59T= (n.61+59T=)
8	g.6877738A>G	CA1761188550	DEFB1	c.61+59T>C (n.61+59T>C)	dbSNP gnomAD v4
8	g.6877739T>G	CA1761188552	DEFB1	c.61+58A>C (n.61+58A>C)	dbSNP gnomAD v4
8	g.6877739T=	CA1761188551	DEFB1	c.61+58A= (n.61+58A=)
8	g.6877740C=	CA1761188553	DEFB1	c.61+57G= (n.61+57G=)
8	g.6877740C>G	CA2579088540	DEFB1	c.61+57G>C (n.61+57G>C)	gnomAD v4
8	g.6877740C>T	CA1761188554	DEFB1	c.61+57G>A (n.61+57G>A)	dbSNP
8	g.6877742G>A	CA1761188556	DEFB1	c.61+55C>T (n.61+55C>T)	dbSNP gnomAD v4
8	g.6877742G>C	CA2686023120	DEFB1	c.61+55C>G (n.61+55C>G)	gnomAD v4
8	g.6877742G=	CA1761188555	DEFB1	c.61+55C= (n.61+55C=)
8	g.6877742G>T	CA2579088541	DEFB1	c.61+55C>A (n.61+55C>A)	gnomAD v4
8	g.6877743C>A	CA2686023121	DEFB1	c.61+54G>T (n.61+54G>T)	gnomAD v4
8	g.6877743C=	CA1761188557	DEFB1	c.61+54G= (n.61+54G=)
8	g.6877743C>T	CA1110233953	DEFB1	c.61+54G>A (n.61+54G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877744C>A	CA2686023123	DEFB1	c.61+53G>T (n.61+53G>T)	gnomAD v4
8	g.6877744C>G	CA2579088542	DEFB1	c.61+53G>C (n.61+53G>C)	gnomAD v4
8	g.6877744C>T	CA2686023122	DEFB1	c.61+53G>A (n.61+53G>A)	gnomAD v4
8	g.6877745C>A	CA2686023124	DEFB1	c.61+52G>T (n.61+52G>T)	gnomAD v4
8	g.6877745C=	CA1761188558	DEFB1	c.61+52G= (n.61+52G=)
8	g.6877745C>T	CA854608960	DEFB1	c.61+52G>A (n.61+52G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877746C>A	CA2686023125	DEFB1	c.61+51G>T (n.61+51G>T)	gnomAD v4
8	g.6877746C=	CA1761188559	DEFB1	c.61+51G= (n.61+51G=)
8	g.6877746C>T	CA1761188560	DEFB1	c.61+51G>A (n.61+51G>A)	dbSNP gnomAD v4
8	g.6877747A=	CA1761188561	DEFB1	c.61+50T= (n.61+50T=)
8	g.6877747A>G	CA4612854	DEFB1	c.61+50T>C (n.61+50T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877747A>T	CA1110233957	DEFB1	c.61+50T>A (n.61+50T>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877748T>C	CA1761188563	DEFB1	c.61+49A>G (n.61+49A>G)	dbSNP gnomAD v4
8	g.6877748T>G	CA2686023126	DEFB1	c.61+49A>C (n.61+49A>C)	dbSNP gnomAD v4
8	g.6877748T=	CA1761188562	DEFB1	c.61+49A= (n.61+49A=)
8	g.6877749dup	CA4612855	DEFB1	c.61+49dup (n.61+49dup)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877750G>A	CA2686023127	DEFB1	c.61+47C>T (n.61+47C>T)	gnomAD v4
8	g.6877750G=	CA1761188564	DEFB1	c.61+47C= (n.61+47C=)
8	g.6877750G>T	CA4612856	DEFB1	c.61+47C>A (n.61+47C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877751T>C	CA2778897134	DEFB1	c.61+46A>G (n.61+46A>G)
8	g.6877752C>A	CA1761188566	DEFB1	c.61+45G>T (n.61+45G>T)	dbSNP gnomAD v4
8	g.6877752C=	CA1761188565	DEFB1	c.61+45G= (n.61+45G=)
8	g.6877755del	CA2686023128	DEFB1	c.61+45del (n.61+45del)	gnomAD v4
8	g.6877753C>A	CA2686023129	DEFB1	c.61+44G>T (n.61+44G>T)	gnomAD v4
8	g.6877754C>A	CA2686023130	DEFB1	c.61+43G>T (n.61+43G>T)	gnomAD v4
8	g.6877754C=	CA1761188567	DEFB1	c.61+43G= (n.61+43G=)
8	g.6877754C>G	CA2686023131	DEFB1	c.61+43G>C (n.61+43G>C)	dbSNP gnomAD v4
8	g.6877754C>T	CA854608969	DEFB1	c.61+43G>A (n.61+43G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877755C>A	CA4612857	DEFB1	c.61+42G>T (n.61+42G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877755C=	CA1761188568	DEFB1	c.61+42G= (n.61+42G=)
8	g.6877755C>T	CA2686023132	DEFB1	c.61+42G>A (n.61+42G>A)	gnomAD v4
8	g.6877756A>G	CA2686023133	DEFB1	c.61+41T>C (n.61+41T>C)	gnomAD v4
8	g.6877757G=	CA1761188569	DEFB1	c.61+40C= (n.61+40C=)
8	g.6877757G>T	CA579664745	DEFB1	c.61+40C>A (n.61+40C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877758C>G	CA2579088543	DEFB1	c.61+39G>C (n.61+39G>C)	gnomAD v4
8	g.6877759C>A	CA2686023134	DEFB1	c.61+38G>T (n.61+38G>T)	gnomAD v4
8	g.6877759C=	CA1761188570	DEFB1	c.61+38G= (n.61+38G=)
8	g.6877759C>G	CA1761188571	DEFB1	c.61+38G>C (n.61+38G>C)	dbSNP gnomAD v4
8	g.6877760C>A	CA2686023135	DEFB1	c.61+37G>T (n.61+37G>T)	gnomAD v4
8	g.6877760C=	CA1761188572	DEFB1	c.61+37G= (n.61+37G=)
8	g.6877760C>G	CA854608977	DEFB1	c.61+37G>C (n.61+37G>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877760C>T	CA2686023136	DEFB1	c.61+37G>A (n.61+37G>A)	gnomAD v4
8	g.6877760_6877763dup	CA854608978	DEFB1	c.61+34_61+37dup (n.61+34_61+37dup)	dbSNP
8	g.6877762G>T	CA2579088544	DEFB1	c.61+35C>A (n.61+35C>A)	gnomAD v4
8	g.6877765del	CA2686023137	DEFB1	c.61+35del (n.61+35del)	gnomAD v4
8	g.6877763G>A	CA1761188574	DEFB1	c.61+34C>T (n.61+34C>T)	dbSNP gnomAD v4
8	g.6877763G=	CA1761188573	DEFB1	c.61+34C= (n.61+34C=)
8	g.6877763G>T	CA4612858	DEFB1	c.61+34C>A (n.61+34C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877764G>A	CA2686023138	DEFB1	c.61+33C>T (n.61+33C>T)	gnomAD v4
8	g.6877764G>C	CA579664746	DEFB1	c.61+33C>G (n.61+33C>G)	dbSNP gnomAD v2 gnomAD v4
8	g.6877764G=	CA1761188575	DEFB1	c.61+33C= (n.61+33C=)
8	g.6877764G>T	CA4612859	DEFB1	c.61+33C>A (n.61+33C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877765G>A	CA171486087	DEFB1	c.61+32C>T (n.61+32C>T)	dbSNP gnomAD v2 gnomAD v4
8	g.6877765G=	CA1761188576	DEFB1	c.61+32C= (n.61+32C=)
8	g.6877765G>T	CA2686023139	DEFB1	c.61+32C>A (n.61+32C>A)	gnomAD v4
8	g.6877766A=	CA1761188577	DEFB1	c.61+31T= (n.61+31T=)
8	g.6877766A>C	CA1110233962	DEFB1	c.61+31T>G (n.61+31T>G)	dbSNP gnomAD v3 gnomAD v4
8	g.6877766A>G	CA579664750	DEFB1	c.61+31T>C (n.61+31T>C)	dbSNP gnomAD v2 gnomAD v4
8	g.6877766A>T	CA2778897135	DEFB1	c.61+31T>A (n.61+31T>A)
8	g.6877767T>C	CA4612860	DEFB1	c.61+30A>G (n.61+30A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877767T>G	CA171486094	DEFB1	c.61+30A>C (n.61+30A>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877767T=	CA1761188578	DEFB1	c.61+30A= (n.61+30A=)
8	g.6877768G>A	CA2778897136	DEFB1	c.61+29C>T (n.61+29C>T)
8	g.6877768G>T	CA2686023140	DEFB1	c.61+29C>A (n.61+29C>A)	gnomAD v4
8	g.6877769G>A	CA2686023141	DEFB1	c.61+28C>T (n.61+28C>T)	gnomAD v4
8	g.6877770G>A	CA4612861	DEFB1	c.61+27C>T (n.61+27C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877770G>C	CA2686023142	DEFB1	c.61+27C>G (n.61+27C>G)	gnomAD v4
8	g.6877770G=	CA1761188579	DEFB1	c.61+27C= (n.61+27C=)
8	g.6877770G>T	CA2686023143	DEFB1	c.61+27C>A (n.61+27C>A)	gnomAD v4
8	g.6877771A>T	CA2686023144	DEFB1	c.61+26T>A (n.61+26T>A)	gnomAD v4
8	g.6877773A>C	CA2686023145	DEFB1	c.61+24T>G (n.61+24T>G)	gnomAD v4
8	g.6877774C>A	CA4612862	DEFB1	c.61+23G>T (n.61+23G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877774C=	CA1761188580	DEFB1	c.61+23G= (n.61+23G=)
8	g.6877774C>G	CA2579088545	DEFB1	c.61+23G>C (n.61+23G>C)	gnomAD v4
8	g.6877774C>T	CA4612863	DEFB1	c.61+23G>A (n.61+23G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877776_6877777del	CA2778897137	DEFB1	c.61+22_61+23del (n.61+22_61+23del)
8	g.6877775T>C	CA2686023147	DEFB1	c.61+22A>G (n.61+22A>G)	gnomAD v4
8	g.6877776_6877778del	CA2686023146	DEFB1	c.61+20_61+22del (n.61+20_61+22del)	gnomAD v4
8	g.6877776C=	CA1761188581	DEFB1	c.61+21G= (n.61+21G=)
8	g.6877776C>G	CA4612864	DEFB1	c.61+21G>C (n.61+21G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877776C>T	CA2686023148	DEFB1	c.61+21G>A (n.61+21G>A)	gnomAD v4
8	g.6877778T>A	CA4612865	DEFB1	c.61+19A>T (n.61+19A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877778T>C	CA1761188583	DEFB1	c.61+19A>G (n.61+19A>G)	dbSNP
8	g.6877778T>G	CA1761188582	DEFB1	c.61+19A>C (n.61+19A>C)	dbSNP gnomAD v4
8	g.6877778T=	CA1761188584	DEFB1	c.61+19A= (n.61+19A=)
8	g.6877778_6877779insA	CA652031397	DEFB1	c.61+18_61+19insT (n.61+18_61+19insT)
8	g.6877779G>T	CA2686023150	DEFB1	c.61+18C>A (n.61+18C>A)	gnomAD v4
8	g.6877779_6877780del	CA2686023149	DEFB1	c.61+17_61+18del (n.61+17_61+18del)	gnomAD v4
8	g.6877780del	CA2686023151	DEFB1	c.61+17del (n.61+17del)	gnomAD v4
8	g.6877780C=	CA1761188585	DEFB1	c.61+17G= (n.61+17G=)
8	g.6877780C>G	CA1761188586	DEFB1	c.61+17G>C (n.61+17G>C)	dbSNP
8	g.6877780C>T	CA2686023152	DEFB1	c.61+17G>A (n.61+17G>A)	gnomAD v4
8	g.6877781A>G	CA2686023153	DEFB1	c.61+16T>C (n.61+16T>C)	gnomAD v4
8	g.6877782G>A	CA1761188588	DEFB1	c.61+15C>T (n.61+15C>T)	dbSNP gnomAD v4
8	g.6877782G>C	CA2686023155	DEFB1	c.61+15C>G (n.61+15C>G)	gnomAD v4
8	g.6877782G=	CA1761188587	DEFB1	c.61+15C= (n.61+15C=)
8	g.6877782G>T	CA2686023154	DEFB1	c.61+15C>A (n.61+15C>A)	gnomAD v4
8	g.6877783G>A	CA579664758	DEFB1	c.61+14C>T (n.61+14C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877783G>C	CA171486123	DEFB1	c.61+14C>G (n.61+14C>G)	dbSNP gnomAD v4
8	g.6877783G=	CA1761188589	DEFB1	c.61+14C= (n.61+14C=)
8	g.6877783G>T	CA2686023156	DEFB1	c.61+14C>A (n.61+14C>A)	gnomAD v4
8	g.6877784T>C	CA1761188591	DEFB1	c.61+13A>G (n.61+13A>G)	dbSNP gnomAD v4
8	g.6877784T=	CA1761188590	DEFB1	c.61+13A= (n.61+13A=)
8	g.6877785A=	CA1761188592	DEFB1	c.61+12T= (n.61+12T=)
8	g.6877785A>G	CA4612866	DEFB1	c.61+12T>C (n.61+12T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877785A>T	CA2686023157	DEFB1	c.61+12T>A (n.61+12T>A)	gnomAD v4
8	g.6877786C>A	CA2686023159	DEFB1	c.61+11G>T (n.61+11G>T)	gnomAD v4
8	g.6877786C=	CA1761188593	DEFB1	c.61+11G= (n.61+11G=)
8	g.6877786C>G	CA4612867	DEFB1	c.61+11G>C (n.61+11G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877786C>T	CA2686023160	DEFB1	c.61+11G>A (n.61+11G>A)	gnomAD v4
8	g.6877787del	CA2686023158	DEFB1	c.61+11del (n.61+11del)	gnomAD v4
8	g.6877786_6877787insT	CA918194043	DEFB1	c.61+10_61+11insA (n.61+10_61+11insA)	dbSNP
8	g.6877787C=	CA1761188594	DEFB1	c.61+10G= (n.61+10G=)
8	g.6877787C>T	CA4612868	DEFB1	c.61+10G>A (n.61+10G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877788A=	CA1761188595	DEFB1	c.61+9T= (n.61+9T=)
8	g.6877788A>G	CA1761188596	DEFB1	c.61+9T>C (n.61+9T>C)	dbSNP gnomAD v4
8	g.6877789G>C	CA459186050	DEFB1	c.61+8C>G (n.61+8C>G)	dbSNP
8	g.6877789G=	CA1761188597	DEFB1	c.61+8C= (n.61+8C=)
8	g.6877789G>T	CA4612869	DEFB1	c.61+8C>A (n.61+8C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877790A=	CA1761188598	DEFB1	c.61+7T= (n.61+7T=)
8	g.6877790A>C	CA4612870	DEFB1	c.61+7T>G (n.61+7T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877790A>T	CA2579088546	DEFB1	c.61+7T>A (n.61+7T>A)
8	g.6877791G>A	CA4612871	DEFB1	c.61+6C>T (n.61+6C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877791G>C	CA579664770	DEFB1	c.61+6C>G (n.61+6C>G)	dbSNP gnomAD v2 gnomAD v4
8	g.6877791G=	CA1761188599	DEFB1	c.61+6C= (n.61+6C=)
8	g.6877792C=	CA1761188600	DEFB1	c.61+5G= (n.61+5G=)
8	g.6877792C>G	CA854609038	DEFB1	c.61+5G>C (n.61+5G>C)	dbSNP
8	g.6877792C>T	CA4612872	DEFB1	c.61+5G>A (n.61+5G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877793T>C	CA2686023161	DEFB1	c.61+4A>G (n.61+4A>G)	gnomAD v4
8	g.6877793T>G	CA2686023162	DEFB1	c.61+4A>C (n.61+4A>C)	gnomAD v4
8	g.6877795A>C	CA370230781	DEFB1	c.61+2T>G (n.61+2T>G)
8	g.6877795A>G	CA370230782	DEFB1	c.61+2T>C (n.61+2T>C)
8	g.6877795A>T	CA370230783	DEFB1	c.61+2T>A (n.61+2T>A)
8	g.6877796C>A	CA370230785	DEFB1	c.61+1G>T (n.61+1G>T)
8	g.6877796C=	CA1761188601	DEFB1	c.61+1G= (n.61+1G=)
8	g.6877796C>G	CA4612873	DEFB1	c.61+1G>C (n.61+1G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877796C>T	CA370230787	DEFB1	c.61+1G>A (n.61+1G>A)	gnomAD v4
8	g.6877797del	CA2579088547	DEFB1	c.61+1del
8	g.6877797C>A	CA171486173	DEFB1	c.61G>T (p.Gly21Cys)	dbSNP gnomAD v4
8	g.6877797C=	CA1761188602	DEFB1	c.61G= (p.Gly21=)
8	g.6877797C>G	CA4612874	DEFB1	c.61G>C (p.Gly21Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877797C>T	CA171486174	DEFB1	c.61G>A (p.Gly21Ser)	dbSNP gnomAD v4
8	g.6877798T>A	CA459186101	DEFB1	c.60A>T (p.Ser20=)
8	g.6877798T>C	CA459186103	DEFB1	c.60A>G (p.Ser20=)
8	g.6877798T>G	CA459186107	DEFB1	c.60A>C (p.Ser20=)
8	g.6877799G>A	CA370230792	DEFB1	c.59C>T (p.Ser20Leu)
8	g.6877799G>C	CA370230793	DEFB1	c.59C>G (p.Ser20Ter)	gnomAD v4
8	g.6877799G>T	CA370230794	DEFB1	c.59C>A (p.Ser20Ter)
8	g.6877800A>C	CA370230799	DEFB1	c.58T>G (p.Ser20Ala)
8	g.6877800A>G	CA370230796	DEFB1	c.58T>C (p.Ser20Pro)
8	g.6877800A>T	CA370230797	DEFB1	c.58T>A (p.Ser20Thr)
8	g.6877801G>A	CA459186122	DEFB1	c.57C>T (p.Ala19=)
8	g.6877801G>C	CA459186119	DEFB1	c.57C>G (p.Ala19=)
8	g.6877801G=	CA1761188603	DEFB1	c.57C= (p.Ala19=)
8	g.6877801G>T	CA459186116	DEFB1	c.57C>A (p.Ala19=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877802G>A	CA370230801	DEFB1	c.56C>T (p.Ala19Val)	gnomAD v4
8	g.6877802G>C	CA370230803	DEFB1	c.56C>G (p.Ala19Gly)	gnomAD v4
8	g.6877802G=	CA1761188604	DEFB1	c.56C= (p.Ala19=)
8	g.6877802G>T	CA370230804	DEFB1	c.56C>A (p.Ala19Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877803C>A	CA370230806	DEFB1	c.55G>T (p.Ala19Ser)	gnomAD v4
8	g.6877803C=	CA1761188605	DEFB1	c.55G= (p.Ala19=)
8	g.6877803C>G	CA370230808	DEFB1	c.55G>C (p.Ala19Pro)	gnomAD v4
8	g.6877803C>T	CA4612875	DEFB1	c.55G>A (p.Ala19Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877804del	CA2778897141	DEFB1	c.55del (p.Ala19ProfsTer?)
8	g.6877804C>A	CA370230811	DEFB1	c.54G>T (p.Met18Ile)	gnomAD v4
8	g.6877804C=	CA1761188606	DEFB1	c.54G= (p.Met18=)
8	g.6877804C>G	CA370230813	DEFB1	c.54G>C (p.Met18Ile)	dbSNP gnomAD v2 gnomAD v4
8	g.6877804C>T	CA370230814	DEFB1	c.54G>A (p.Met18Ile)	dbSNP gnomAD v4
8	g.6877805A>C	CA370230816	DEFB1	c.53T>G (p.Met18Arg)	gnomAD v4
8	g.6877805A>G	CA370230818	DEFB1	c.53T>C (p.Met18Thr)	gnomAD v4
8	g.6877805A>T	CA370230819	DEFB1	c.53T>A (p.Met18Lys)
8	g.6877806T>A	CA370230822	DEFB1	c.52A>T (p.Met18Leu)	gnomAD v4
8	g.6877806T>C	CA370230824	DEFB1	c.52A>G (p.Met18Val)
8	g.6877806T>G	CA370230821	DEFB1	c.52A>C (p.Met18Leu)
8	g.6877807C>A	CA370230827	DEFB1	c.51G>T (p.Glu17Asp)
8	g.6877807C>G	CA370230826	DEFB1	c.51G>C (p.Glu17Asp)
8	g.6877807C>T	CA459186176	DEFB1	c.51G>A (p.Glu17=)
8	g.6877808T>A	CA370230830	DEFB1	c.50A>T (p.Glu17Val)
8	g.6877808T>C	CA370230831	DEFB1	c.50A>G (p.Glu17Gly)
8	g.6877808T>G	CA370230833	DEFB1	c.50A>C (p.Glu17Ala)
8	g.6877809C>A	CA370230834	DEFB1	c.49G>T (p.Glu17Ter)
8	g.6877809C=	CA1761188607	DEFB1	c.49G= (p.Glu17=)
8	g.6877809C>G	CA4612876	DEFB1	c.49G>C (p.Glu17Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877809C>T	CA370230836	DEFB1	c.49G>A (p.Glu17Lys)
8	g.6877810A>C	CA459186197	DEFB1	c.48T>G (p.Ser16=)
8	g.6877810A>G	CA459186200	DEFB1	c.48T>C (p.Ser16=)
8	g.6877810A>T	CA459186203	DEFB1	c.48T>A (p.Ser16=)
8	g.6877811G>A	CA370230837	DEFB1	c.47C>T (p.Ser16Phe)
8	g.6877811G>C	CA370230838	DEFB1	c.47C>G (p.Ser16Cys)
8	g.6877811G>T	CA370230840	DEFB1	c.47C>A (p.Ser16Tyr)	gnomAD v4
8	g.6877812A>C	CA370230842	DEFB1	c.46T>G (p.Ser16Ala)
8	g.6877812A>G	CA370230844	DEFB1	c.46T>C (p.Ser16Pro)
8	g.6877812A>T	CA370230845	DEFB1	c.46T>A (p.Ser16Thr)
8	g.6877813C>A	CA370230847	DEFB1	c.45G>T (p.Leu15Phe)
8	g.6877813C=	CA1761188608	DEFB1	c.45G= (p.Leu15=)
8	g.6877813C>G	CA4612877	DEFB1	c.45G>C (p.Leu15Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877813C>T	CA459186229	DEFB1	c.45G>A (p.Leu15=)
8	g.6877814A>C	CA370230848	DEFB1	c.44T>G (p.Leu15Trp)
8	g.6877814A>G	CA370230850	DEFB1	c.44T>C (p.Leu15Ser)
8	g.6877814A>T	CA370230852	DEFB1	c.44T>A (p.Leu15Ter)
8	g.6877817del	CA579664783	DEFB1	c.44del (p.Leu15CysfsTer?)	gnomAD v2 gnomAD v4
8	g.6877815A>C	CA370230853	DEFB1	c.43T>G (p.Leu15Val)
8	g.6877815A>G	CA459186246	DEFB1	c.43T>C (p.Leu15=)
8	g.6877815A>T	CA370230855	DEFB1	c.43T>A (p.Leu15Met)
8	g.6877816A=	CA1761188609	DEFB1	c.42T= (p.Leu14=)
8	g.6877816A>C	CA459186253	DEFB1	c.42T>G (p.Leu14=)	dbSNP gnomAD v2 gnomAD v4
8	g.6877816A>G	CA459186258	DEFB1	c.42T>C (p.Leu14=)
8	g.6877816A>T	CA459186262	DEFB1	c.42T>A (p.Leu14=)
8	g.6877817A>C	CA370230857	DEFB1	c.41T>G (p.Leu14Arg)
8	g.6877817A>G	CA370230858	DEFB1	c.41T>C (p.Leu14Pro)
8	g.6877817A>T	CA370230859	DEFB1	c.41T>A (p.Leu14His)
8	g.6877818G>A	CA370230861	DEFB1	c.40C>T (p.Leu14Phe)
8	g.6877818G>C	CA370230862	DEFB1	c.40C>G (p.Leu14Val)
8	g.6877818G>T	CA370230864	DEFB1	c.40C>A (p.Leu14Ile)
8	g.6877819T>A	CA370230866	DEFB1	c.39A>T (p.Leu13Phe)
8	g.6877819T>C	CA459186284	DEFB1	c.39A>G (p.Leu13=)
8	g.6877819T>G	CA370230867	DEFB1	c.39A>C (p.Leu13Phe)
8	g.6877820A>C	CA370230872	DEFB1	c.38T>G (p.Leu13Ter)
8	g.6877820A>G	CA370230871	DEFB1	c.38T>C (p.Leu13Ser)
8	g.6877820A>T	CA370230869	DEFB1	c.38T>A (p.Leu13Ter)	gnomAD v4
8	g.6877821A>C	CA370230874	DEFB1	c.37T>G (p.Leu13Val)
8	g.6877821A>G	CA459186295	DEFB1	c.37T>C (p.Leu13=)
8	g.6877821A>T	CA370230876	DEFB1	c.37T>A (p.Leu13Ile)
8	g.6877822G>A	CA4612878	DEFB1	c.36C>T (p.Cys12=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877822G>C	CA370230878	DEFB1	c.36C>G (p.Cys12Trp)
8	g.6877822G=	CA1761188610	DEFB1	c.36C= (p.Cys12=)
8	g.6877822G>T	CA370230880	DEFB1	c.36C>A (p.Cys12Ter)
8	g.6877823C>A	CA370230882	DEFB1	c.35G>T (p.Cys12Phe)
8	g.6877823C=	CA1761188612	DEFB1	c.35G= (p.Cys12=)
8	g.6877823C>G	CA370230884	DEFB1	c.35G>C (p.Cys12Ser)
8	g.6877823C>T	CA4612879	DEFB1	c.35G>A (p.Cys12Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877823_6877824delinsCA	CA1761188611	DEFB1	c.34_35delinsTG (p.Cys12=)
8	g.6877824del	CA4612880	DEFB1	c.34del (p.Cys12AlafsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877824A>C	CA370230885	DEFB1	c.34T>G (p.Cys12Gly)
8	g.6877824A>G	CA370230887	DEFB1	c.34T>C (p.Cys12Arg)	gnomAD v4
8	g.6877824A>T	CA370230888	DEFB1	c.34T>A (p.Cys12Ser)
8	g.6877825G>A	CA459186335	DEFB1	c.33C>T (p.Leu11=)	gnomAD v4
8	g.6877825G>C	CA171486188	DEFB1	c.33C>G (p.Leu11=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.6877825G=	CA1761188613	DEFB1	c.33C= (p.Leu11=)
8	g.6877825G>T	CA459186340	DEFB1	c.33C>A (p.Leu11=)
8	g.6877826A=	CA1761188614	DEFB1	c.32T= (p.Leu11=)
8	g.6877826A>C	CA370230893	DEFB1	c.32T>G (p.Leu11Arg)
8	g.6877826A>G	CA370230894	DEFB1	c.32T>C (p.Leu11Pro)	dbSNP
8	g.6877826A>T	CA370230891	DEFB1	c.32T>A (p.Leu11His)
8	g.6877827G>A	CA370230895	DEFB1	c.31C>T (p.Leu11Phe)
8	g.6877827G>C	CA4612881	DEFB1	c.31C>G (p.Leu11Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877827G=	CA1761188615	DEFB1	c.31C= (p.Leu11=)
8	g.6877827G>T	CA370230897	DEFB1	c.31C>A (p.Leu11Ile)	gnomAD v4
8	g.6877828A=	CA1761188616	DEFB1	c.30T= (p.Thr10=)
8	g.6877828A>C	CA459186361	DEFB1	c.30T>G (p.Thr10=)
8	g.6877828A>G	CA459186364	DEFB1	c.30T>C (p.Thr10=)	dbSNP
8	g.6877828A>T	CA459186367	DEFB1	c.30T>A (p.Thr10=)
8	g.6877829G>A	CA370230899	DEFB1	c.29C>T (p.Thr10Ile)
8	g.6877829G>C	CA4612882	DEFB1	c.29C>G (p.Thr10Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.6877829G=	CA1761188617	DEFB1	c.29C= (p.Thr10=)
8	g.6877829G>T	CA370230901	DEFB1	c.29C>A (p.Thr10Asn)
8	g.6877830T>A	CA370230903	DEFB1	c.28A>T (p.Thr10Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877830T>C	CA370230906	DEFB1	c.28A>G (p.Thr10Ala)	gnomAD v4
8	g.6877830T>G	CA171486222	DEFB1	c.28A>C (p.Thr10Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877830T=	CA1761188618	DEFB1	c.28A= (p.Thr10=)
8	g.6877831A>C	CA370230908	DEFB1	c.27T>G (p.Phe9Leu)
8	g.6877831A>G	CA459186393	DEFB1	c.27T>C (p.Phe9=)
8	g.6877831A>T	CA370230909	DEFB1	c.27T>A (p.Phe9Leu)
8	g.6877832A>C	CA370230910	DEFB1	c.26T>G (p.Phe9Cys)	gnomAD v4
8	g.6877832A>G	CA370230912	DEFB1	c.26T>C (p.Phe9Ser)
8	g.6877832A>T	CA370230914	DEFB1	c.26T>A (p.Phe9Tyr)
8	g.6877833A>C	CA370230917	DEFB1	c.25T>G (p.Phe9Val)
8	g.6877833A>G	CA370230918	DEFB1	c.25T>C (p.Phe9Leu)
8	g.6877833A>T	CA370230916	DEFB1	c.25T>A (p.Phe9Ile)

Number of alleles fetched