Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80107724T>A	CA401363732	GAA	c.858+2T>A (n.858+2T>A)	ClinVar dbSNP
17	g.80107724T>C	CA401363734	GAA	c.858+2T>C (n.858+2T>C)
17	g.80107724T>G	CA401363736	GAA	c.858+2T>G (n.858+2T>G)
17	g.80107724T=	CA2277812337	GAA	c.858+2T= (n.858+2T=)
17	g.80107725A=	CA2277812338	GAA	c.858+3A= (n.858+3A=)
17	g.80107725_80107726insGAG	CA8815033	GAA	c.858+3_858+4insGAG (n.858+3_858+4insGAG)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107726C=	CA2277812339	GAA	c.858+4C= (n.858+4C=)
17	g.80107726C>G	CA10604590	GAA	c.858+4C>G (n.858+4C>G)	ClinVar dbSNP
17	g.80107727A=	CA2277812341	GAA	c.858+5A= (n.858+5A=)
17	g.80107727A>G	CA2277812342	GAA	c.858+5A>G (n.858+5A>G)	ClinVar dbSNP gnomAD v4
17	g.80107729_80107730insAGCGAGC	CA2734096656	GAA	c.858+7_858+8insAGCGAGC (n.858+7_858+8insAGCGAGC)	dbSNP
17	g.80107727_80107733delinsAGCGGCG	CA2277812340	GAA	c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG)
17	g.80107727_80107733dup	CA2277812344	GAA	c.858+5_858+11dup (n.858+5_858+11dup)	ClinVar dbSNP
17	g.80107727_80107734delinsAGCGGCGG	CA2277812343	GAA	c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG)
17	g.80107727_80107728insACAGCGG	CA2640279962	GAA	c.858+5_858+6insACAGCGG (n.858+5_858+6insACAGCGG)	gnomAD v4
17	g.80107728G>A	CA658795240	GAA	c.858+6G>A (n.858+6G>A)
17	g.80107728G=	CA2277812345	GAA	c.858+6G= (n.858+6G=)
17	g.80107728G>T	CA8815039	GAA	c.858+6G>T (n.858+6G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107728_80107729insGCAGCGG	CA294889789	GAA	c.858+6_858+7insGCAGCGG (n.858+6_858+7insGCAGCGG)	dbSNP
17	g.80107728_80107729insTAGCGGG	CA2576413981	GAA	c.858+6_858+7insTAGCGGG (n.858+6_858+7insTAGCGGG)
17	g.80107729_80107730insAATGGGC	CA2640279941	GAA	c.858+7_858+8insAATGGGC (n.858+7_858+8insAATGGGC)	gnomAD v4
17	g.80107729_80107730insACCGGGC	CA2499225003	GAA	c.858+7_858+8insACCGGGC (n.858+7_858+8insACCGGGC)	ClinVar dbSNP
17	g.80107729_80107730insAGCAGGC	CA8815037	GAA	c.858+7_858+8insAGCAGGC (n.858+7_858+8insAGCAGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGC	CA145794	GAA	c.858+7_858+8insAGCGGGC (n.858+7_858+8insAGCGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGTGGGC	CA8815036	GAA	c.858+7_858+8insAGTGGGC (n.858+7_858+8insAGTGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGCAGCGGGC	CA2580095280	GAA	c.858+7_858+8insAGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCAGCGGGC)	ClinVar
17	g.80107729_80107730insAGCGGGCGGCGGGC	CA8815035	GAA	c.858+7_858+8insAGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGC)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGTGGCGGGC	CA915952248	GAA	c.858+7_858+8insAGCGGGTGGCGGGC (n.858+7_858+8insAGCGGGTGGCGGGC)	ClinVar dbSNP
17	g.80107729_80107730insAGCGGGCGGCGGGCGGCGGGC	CA628018323	GAA	c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC	CA2640279956	GAA	c.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGAGCAGCGGGC)	gnomAD v4
17	g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC	CA915952249	GAA	c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC)	ClinVar dbSNP gnomAD v4
17	g.80107728_80107731dup	CA2640279947	GAA	c.858+6_858+9dup (n.858+6_858+9dup)	gnomAD v4
17	g.80107728_80107733delinsAGCGGGC	CA919905406	GAA	c.858+6_858+11delinsAGCGGGC (n.858+6_858+11delinsAGCGGGC)	dbSNP
17	g.80107739_80107745dup	CA180075	GAA	c.858+17_858+23dup (n.858+17_858+23dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107739_80107745del	CA8815034	GAA	c.858+17_858+23del (n.858+17_858+23del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729C=	CA2277812346	GAA	c.858+7C= (n.858+7C=)
17	g.80107729C>T	CA294889796	GAA	c.858+7C>T (n.858+7C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGAC	CA8815038	GAA	c.858+7_858+8insAGCGGAC (n.858+7_858+8insAGCGGAC)	dbSNP ExAC
17	g.80107729_80107730insAGCGGTC	CA2733929470	GAA	c.858+7_858+8insAGCGGTC (n.858+7_858+8insAGCGGTC)	dbSNP
17	g.80107729_80107732delinsCGGC	CA2277812347	GAA	c.858+7_858+10delinsCGGC (n.858+7_858+10delinsCGGC)
17	g.80107729_80107730insA	CA628018324	GAA	c.858+7_858+8insA (n.858+7_858+8insA)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCG	CA8815040	GAA	c.858+7_858+8insAGCG (n.858+7_858+8insAGCG)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGGA	CA2733929157	GAA	c.858+7_858+8insAGCGGGA (n.858+7_858+8insAGCGGGA)	dbSNP
17	g.80107729_80107730insAGCGGGG	CA2733929158	GAA	c.858+7_858+8insAGCGGGG (n.858+7_858+8insAGCGGGG)	dbSNP
17	g.80107729_80107730insAGCGGGT	CA8815041	GAA	c.858+7_858+8insAGCGGGT (n.858+7_858+8insAGCGGGT)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107729_80107730insAGCGGTA	CA2733929160	GAA	c.858+7_858+8insAGCGGTA (n.858+7_858+8insAGCGGTA)	dbSNP
17	g.80107729_80107730insAGGGGGG	CA2733929159	GAA	c.858+7_858+8insAGGGGGG (n.858+7_858+8insAGGGGGG)	dbSNP
17	g.80107730G>A	CA152922	GAA	c.858+8G>A (n.858+8G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107730G=	CA2277812348	GAA	c.858+8G= (n.858+8G=)
17	g.80107730G>T	CA2640279974	GAA	c.858+8G>T (n.858+8G>T)	gnomAD v4
17	g.80107730_80107732delinsAGCGGGCGGT	CA658798977	GAA	c.858+8_858+10delinsAGCGGGCGGT (n.858+8_858+10delinsAGCGGGCGGT)	ClinVar dbSNP
17	g.80107730_80107731insCGGGCA	CA628018325	GAA	c.858+8_858+9insCGGGCA (n.858+8_858+9insCGGGCA)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107731G>A	CA2580095282	GAA	c.858+9G>A (n.858+9G>A)	ClinVar gnomAD v4
17	g.80107732C>A	CA8815043	GAA	c.858+10C>A (n.858+10C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107732C=	CA2277812349	GAA	c.858+10C= (n.858+10C=)
17	g.80107732C>T	CA8815044	GAA	c.858+10C>T (n.858+10C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107733G>A	CA628018326	GAA	c.858+11G>A (n.858+11G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107733G=	CA2277812350	GAA	c.858+11G= (n.858+11G=)
17	g.80107734_80107735insTGG	CA8815042	GAA	c.858+12_858+13insTGG (n.858+12_858+13insTGG)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107734G>A	CA2640280003	GAA	c.858+12G>A (n.858+12G>A)	gnomAD v4
17	g.80107734G>C	CA775511394	GAA	c.858+12G>C (n.858+12G>C)	ClinVar dbSNP
17	g.80107734G=	CA2277812351	GAA	c.858+12G= (n.858+12G=)
17	g.80107734_80107735insCG	CA2810576424	GAA	c.858+12_858+13insCG (n.858+12_858+13insCG)
17	g.80107734_80107735insCAG	CA8815045	GAA	c.858+12_858+13insCAG (n.858+12_858+13insCAG)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107736C=	CA2277812352	GAA	c.858+14C= (n.858+14C=)
17	g.80107736C>T	CA8815046	GAA	c.858+14C>T (n.858+14C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107737G>A	CA8815047	GAA	c.858+15G>A (n.858+15G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107737G=	CA2277812353	GAA	c.858+15G= (n.858+15G=)
17	g.80107739C=	CA2277812354	GAA	c.858+17C= (n.858+17C=)
17	g.80107739C>G	CA2640280014	GAA	c.858+17C>G (n.858+17C>G)	gnomAD v4
17	g.80107739C>T	CA8815048	GAA	c.858+17C>T (n.858+17C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107740G>A	CA8815049	GAA	c.858+18G>A (n.858+18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107740G=	CA2277812355	GAA	c.858+18G= (n.858+18G=)
17	g.80107741G>A	CA775511406	GAA	c.858+19G>A (n.858+19G>A)	dbSNP
17	g.80107741G=	CA2277812356	GAA	c.858+19G= (n.858+19G=)
17	g.80107741G>T	CA628018338	GAA	c.858+19G>T (n.858+19G>T)	ClinVar dbSNP gnomAD v2
17	g.80107742G>A	CA656889642	GAA	c.858+20G>A (n.858+20G>A)	COSMIC
17	g.80107742G>T	CA2739268464	GAA	c.858+20G>T (n.858+20G>T)	ClinVar
17	g.80107743C=	CA2277812357	GAA	c.858+21C= (n.858+21C=)
17	g.80107743C>G	CA658795241	GAA	c.858+21C>G (n.858+21C>G)
17	g.80107743C>T	CA8815050	GAA	c.858+21C>T (n.858+21C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107745_80107746insCGGTCGG	CA2640280024	GAA	c.858+23_858+24insCGGTCGG (n.858+23_858+24insCGGTCGG)	gnomAD v4
17	g.80107744G>A	CA8815051	GAA	c.858+22G>A (n.858+22G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107744G=	CA2277812358	GAA	c.858+22G= (n.858+22G=)
17	g.80107745G>A	CA775511417	GAA	c.858+23G>A (n.858+23G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107745G=	CA2277812359	GAA	c.858+23G= (n.858+23G=)
17	g.80107745G>T	CA8815053	GAA	c.858+23G>T (n.858+23G>T)	dbSNP ExAC
17	g.80107745_80107746insCGGGCG	CA2640280029	GAA	c.858+23_858+24insCGGGCG (n.858+23_858+24insCGGGCG)	dbSNP gnomAD v4
17	g.80107746_80107747insCGGGCGG	CA502402723	GAA	c.858+24_858+25insCGGGCGG (n.858+24_858+25insCGGGCGG)
17	g.80107745_80107746insC	CA8815052	GAA	c.858+23_858+24insC (n.858+23_858+24insC)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107746G>A	CA2640280032	GAA	c.858+24G>A (n.858+24G>A)	gnomAD v4
17	g.80107746G>C	CA8815054	GAA	c.858+24G>C (n.858+24G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80107746G=	CA2277812360	GAA	c.858+24G= (n.858+24G=)
17	g.80107747G>A	CA2576413982	GAA	c.858+25G>A (n.858+25G>A)
17	g.80107747G=	CA2277812361	GAA	c.858+25G= (n.858+25G=)
17	g.80107747G>T	CA628018339	GAA	c.858+25G>T (n.858+25G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.80107747_80107749dup	CA8815055	GAA	c.858+25_858+27dup (n.858+25_858+27dup)	dbSNP ExAC
17	g.80107748G>A	CA8815056	GAA	c.858+26G>A (n.858+26G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107748G>C	CA2810576427	GAA	c.858+26G>C (n.858+26G>C)
17	g.80107748G=	CA2277812362	GAA	c.858+26G= (n.858+26G=)
17	g.80107748G>T	CA8815057	GAA	c.858+26G>T (n.858+26G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107750A=	CA2277812363	GAA	c.858+28A= (n.858+28A=)
17	g.80107750A>C	CA8815059	GAA	c.858+28A>C (n.858+28A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107750A>G	CA8815058	GAA	c.858+28A>G (n.858+28A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107751C=	CA2277812364	GAA	c.858+29C= (n.858+29C=)
17	g.80107751C>G	CA8815060	GAA	c.858+29C>G (n.858+29C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107751C>T	CA2576413983	GAA	c.858+29C>T (n.858+29C>T)	gnomAD v4
17	g.80107752T>A	CA2277812366	GAA	c.858+30T>A (n.858+30T>A)	dbSNP
17	g.80107752T>C	CA180076	GAA	c.858+30T>C (n.858+30T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107752T>G	CA2277812365	GAA	c.858+30T>G (n.858+30T>G)	dbSNP
17	g.80107752T=	CA2277812367	GAA	c.858+30T= (n.858+30T=)
17	g.80107753G>A	CA8815061	GAA	c.858+31G>A (n.858+31G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107753G=	CA2277812368	GAA	c.858+31G= (n.858+31G=)
17	g.80107753G>T	CA502402724	GAA	c.858+31G>T (n.858+31G>T)
17	g.80107755G>A	CA8815062	GAA	c.858+33G>A (n.858+33G>A)	dbSNP ExAC
17	g.80107755G=	CA2277812369	GAA	c.858+33G= (n.858+33G=)
17	g.80107757T>A	CA986705217	GAA	c.858+35T>A (n.858+35T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107757T=	CA2277812370	GAA	c.858+35T= (n.858+35T=)
17	g.80107758G>A	CA2640280057	GAA	c.858+36G>A (n.858+36G>A)	gnomAD v4
17	g.80107761G>A	CA628018340	GAA	c.859-39G>A (n.859-39G>A)	dbSNP gnomAD v2
17	g.80107761G=	CA2277812371	GAA	c.859-39G= (n.859-39G=)
17	g.80107761G>T	CA986705219	GAA	c.859-39G>T (n.859-39G>T)	gnomAD v3 gnomAD v4
17	g.80107763G>A	CA628018341	GAA	c.859-37G>A (n.859-37G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80107763G=	CA2277812372	GAA	c.859-37G= (n.859-37G=)
17	g.80107764C=	CA2277812373	GAA	c.859-36C= (n.859-36C=)
17	g.80107764C>G	CA294889874	GAA	c.859-36C>G (n.859-36C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80107764C>T	CA8815063	GAA	c.859-36C>T (n.859-36C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107765G>A	CA8815064	GAA	c.859-35G>A (n.859-35G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107765G=	CA2277812374	GAA	c.859-35G= (n.859-35G=)
17	g.80107766C>T	CA2576413984	GAA	c.859-34C>T (n.859-34C>T)
17	g.80107768G>A	CA628018342	GAA	c.859-32G>A (n.859-32G>A)	dbSNP gnomAD v2
17	g.80107768G=	CA2277812375	GAA	c.859-32G= (n.859-32G=)
17	g.80107769G>A	CA294889883	GAA	c.859-31G>A (n.859-31G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80107769G=	CA2277812376	GAA	c.859-31G= (n.859-31G=)
17	g.80107770T>A	CA2277812378	GAA	c.859-30T>A (n.859-30T>A)	dbSNP
17	g.80107770T=	CA2277812377	GAA	c.859-30T= (n.859-30T=)
17	g.80107771G>T	CA2640280068	GAA	c.859-29G>T (n.859-29G>T)	gnomAD v4
17	g.80107771_80107772delinsGC	CA2277812379	GAA	c.859-29_859-28delinsGC (n.859-29_859-28delinsGC)
17	g.80107772del	CA628018343	GAA	c.859-28del (n.859-28del)	dbSNP gnomAD v2 gnomAD v4
17	g.80107773T>A	CA2640280072	GAA	c.859-27T>A (n.859-27T>A)	gnomAD v4
17	g.80107773T>C	CA2640280073	GAA	c.859-27T>C (n.859-27T>C)	gnomAD v4
17	g.80107774G>A	CA2576413985	GAA	c.859-26G>A (n.859-26G>A)	gnomAD v4
17	g.80107776A=	CA2277812380	GAA	c.859-24A= (n.859-24A=)
17	g.80107776A>C	CA2277812381	GAA	c.859-24A>C (n.859-24A>C)	dbSNP
17	g.80107776A>T	CA2640280074	GAA	c.859-24A>T (n.859-24A>T)	dbSNP gnomAD v4
17	g.80107778C=	CA2277812382	GAA	c.859-22C= (n.859-22C=)
17	g.80107778C>T	CA8815065	GAA	c.859-22C>T (n.859-22C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107779G>A	CA8815066	GAA	c.859-21G>A (n.859-21G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107779G=	CA2277812383	GAA	c.859-21G= (n.859-21G=)
17	g.80107780C=	CA2277812384	GAA	c.859-20C= (n.859-20C=)
17	g.80107780C>T	CA656889655	GAA	c.859-20C>T (n.859-20C>T)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.80107781C>A	CA2640280079	GAA	c.859-19C>A (n.859-19C>A)	gnomAD v4
17	g.80107781C=	CA2277812385	GAA	c.859-19C= (n.859-19C=)
17	g.80107781C>T	CA628018344	GAA	c.859-19C>T (n.859-19C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107782G>A	CA8815067	GAA	c.859-18G>A (n.859-18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107782G>C	CA2277812387	GAA	c.859-18G>C (n.859-18G>C)	ClinVar dbSNP
17	g.80107782G=	CA2277812386	GAA	c.859-18G= (n.859-18G=)
17	g.80107784C>A	CA628018345	GAA	c.859-16C>A (n.859-16C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107784C=	CA2277812388	GAA	c.859-16C= (n.859-16C=)
17	g.80107786C=	CA2277812389	GAA	c.859-14C= (n.859-14C=)
17	g.80107786C>G	CA8815068	GAA	c.859-14C>G (n.859-14C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107786C>T	CA775511475	GAA	c.859-14C>T (n.859-14C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107787C>G	CA2810576431	GAA	c.859-13C>G (n.859-13C>G)
17	g.80107789G>A	CA2640280090	GAA	c.859-11G>A (n.859-11G>A)	gnomAD v4
17	g.80107789G>T	CA2640280091	GAA	c.859-11G>T (n.859-11G>T)	gnomAD v4
17	g.80107790C>T	CA2573154942	GAA	c.859-10C>T (n.859-10C>T)	ClinVar dbSNP gnomAD v4
17	g.80107791A=	CA2277812390	GAA	c.859-9A= (n.859-9A=)
17	g.80107791A>G	CA294889895	GAA	c.859-9A>G (n.859-9A>G)	ClinVar dbSNP gnomAD v4
17	g.80107792T>C	CA2576413986	GAA	c.859-8T>C (n.859-8T>C)	gnomAD v4
17	g.80107792T>G	CA2573154943	GAA	c.859-8T>G (n.859-8T>G)	ClinVar dbSNP
17	g.80107793G>A	CA8815069	GAA	c.859-7G>A (n.859-7G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107793G=	CA2277812391	GAA	c.859-7G= (n.859-7G=)
17	g.80107794T>G	CA2640280125	GAA	c.859-6T>G (n.859-6T>G)	gnomAD v4
17	g.80107795C>T	CA2499225004	GAA	c.859-5C>T (n.859-5C>T)	ClinVar dbSNP
17	g.80107796C>A	CA8815070	GAA	c.859-4C>A (n.859-4C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107796C=	CA2277812392	GAA	c.859-4C= (n.859-4C=)
17	g.80107796C>G	CA628018346	GAA	c.859-4C>G (n.859-4C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107796C>T	CA628018347	GAA	c.859-4C>T (n.859-4C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107797C=	CA2277812393	GAA	c.859-3C= (n.859-3C=)
17	g.80107797C>T	CA628018348	GAA	c.859-3C>T (n.859-3C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80107798A>C	CA401363785	GAA	c.859-2A>C (n.859-2A>C)	dbSNP
17	g.80107798A>G	CA401363787	GAA	c.859-2A>G (n.859-2A>G)	ClinVar dbSNP
17	g.80107798A>T	CA401363789	GAA	c.859-2A>T (n.859-2A>T)
17	g.80107799G>A	CA401363791	GAA	c.859-1G>A (n.859-1G>A)
17	g.80107799G>C	CA401363793	GAA	c.859-1G>C (n.859-1G>C)	ClinVar
17	g.80107799G>T	CA401363795	GAA	c.859-1G>T (n.859-1G>T)
17	g.80107800C>A	CA401363797	GAA	c.859C>A (p.Pro287Thr)
17	g.80107800C=	CA2277812394	GAA	c.859C= (p.Pro287=)
17	g.80107800C>G	CA401363799	GAA	c.859C>G (p.Pro287Ala)
17	g.80107800C>T	CA8815071	GAA	c.859C>T (p.Pro287Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107801C>A	CA401363802	GAA	c.860C>A (p.Pro287His)	gnomAD v4
17	g.80107801C=	CA2277812395	GAA	c.860C= (p.Pro287=)
17	g.80107801C>G	CA401363804	GAA	c.860C>G (p.Pro287Arg)
17	g.80107801C>T	CA401363807	GAA	c.860C>T (p.Pro287Leu)	ClinVar dbSNP gnomAD v2
17	g.80107802C>A	CA502402725	GAA	c.861C>A (p.Pro287=)	gnomAD v4
17	g.80107802C=	CA2277812396	GAA	c.861C= (p.Pro287=)
17	g.80107802C>G	CA502402726	GAA	c.861C>G (p.Pro287=)	ClinVar dbSNP
17	g.80107802C>T	CA8815072	GAA	c.861C>T (p.Pro287=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107803G>A	CA8815073	GAA	c.862G>A (p.Gly288Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80107803G>C	CA401363809	GAA	c.862G>C (p.Gly288Arg)
17	g.80107803G=	CA2277812397	GAA	c.862G= (p.Gly288=)
17	g.80107803G>T	CA401363811	GAA	c.862G>T (p.Gly288Cys)
17	g.80107804G>A	CA8815074	GAA	c.863G>A (p.Gly288Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107804G>C	CA401363815	GAA	c.863G>C (p.Gly288Ala)
17	g.80107804G=	CA2277812398	GAA	c.863G= (p.Gly288=)
17	g.80107804G>T	CA401363817	GAA	c.863G>T (p.Gly288Val)	gnomAD v4
17	g.80107805T>A	CA502402727	GAA	c.864T>A (p.Gly288=)
17	g.80107805T>C	CA502402728	GAA	c.864T>C (p.Gly288=)
17	g.80107805T>G	CA502402729	GAA	c.864T>G (p.Gly288=)
17	g.80107805dup	CA8815075	GAA	c.864dup (p.Ala289CysfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107806G>A	CA401363820	GAA	c.865G>A (p.Ala289Thr)
17	g.80107806G>C	CA401363822	GAA	c.865G>C (p.Ala289Pro)
17	g.80107806G>T	CA401363825	GAA	c.865G>T (p.Ala289Ser)	gnomAD v4
17	g.80107807C>A	CA401363826	GAA	c.866C>A (p.Ala289Glu)	ClinVar dbSNP gnomAD v4
17	g.80107807C=	CA2277812399	GAA	c.866C= (p.Ala289=)
17	g.80107807C>G	CA401363828	GAA	c.866C>G (p.Ala289Gly)
17	g.80107807C>T	CA8815076	GAA	c.866C>T (p.Ala289Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107808G>A	CA8815077	GAA	c.867G>A (p.Ala289=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107808G>C	CA502402730	GAA	c.867G>C (p.Ala289=)
17	g.80107808G=	CA2277812400	GAA	c.867G= (p.Ala289=)
17	g.80107808G>T	CA502402731	GAA	c.867G>T (p.Ala289=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80107809A=	CA2277812401	GAA	c.868A= (p.Asn290=)
17	g.80107809A>C	CA401363833	GAA	c.868A>C (p.Asn290His)
17	g.80107809A>G	CA8815078	GAA	c.868A>G (p.Asn290Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107809A>T	CA401363835	GAA	c.868A>T (p.Asn290Tyr)
17	g.80107810A>C	CA401363837	GAA	c.869A>C (p.Asn290Thr)
17	g.80107810A>G	CA401363839	GAA	c.869A>G (p.Asn290Ser)
17	g.80107810A>T	CA401363841	GAA	c.869A>T (p.Asn290Ile)
17	g.80107811C>A	CA401363843	GAA	c.870C>A (p.Asn290Lys)
17	g.80107811C>G	CA401363845	GAA	c.870C>G (p.Asn290Lys)
17	g.80107811C>T	CA502402732	GAA	c.870C>T (p.Asn290=)	ClinVar
17	g.80107812C>A	CA401363847	GAA	c.871C>A (p.Leu291Ile)
17	g.80107812C=	CA2277812402	GAA	c.871C= (p.Leu291=)
17	g.80107812C>G	CA401363849	GAA	c.871C>G (p.Leu291Val)
17	g.80107812C>T	CA8815079	GAA	c.871C>T (p.Leu291Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107814_80107815del	CA2695200352	GAA	c.873_874del (p.Tyr292ArgfsTer?)	ClinVar
17	g.80107813T>A	CA401363852	GAA	c.872T>A (p.Leu291His)
17	g.80107813T>C	CA401363854	GAA	c.872T>C (p.Leu291Pro)	ClinVar dbSNP gnomAD v4
17	g.80107813T>G	CA401363856	GAA	c.872T>G (p.Leu291Arg)
17	g.80107814C>A	CA502402735	GAA	c.873C>A (p.Leu291=)
17	g.80107814C=	CA2277812403	GAA	c.873C= (p.Leu291=)
17	g.80107814C>G	CA502402734	GAA	c.873C>G (p.Leu291=)	dbSNP
17	g.80107814C>T	CA502402733	GAA	c.873C>T (p.Leu291=)	ClinVar dbSNP gnomAD v4
17	g.80107815T>A	CA401363860	GAA	c.874T>A (p.Tyr292Asn)
17	g.80107815T>C	CA401363862	GAA	c.874T>C (p.Tyr292His)	ClinVar gnomAD v4
17	g.80107815T>G	CA401363858	GAA	c.874T>G (p.Tyr292Asp)
17	g.80107816A=	CA2277812404	GAA	c.875A= (p.Tyr292=)
17	g.80107816A>C	CA401363867	GAA	c.875A>C (p.Tyr292Ser)
17	g.80107816A>G	CA16041886	GAA	c.875A>G (p.Tyr292Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107816A>T	CA401363865	GAA	c.875A>T (p.Tyr292Phe)
17	g.80107817C>A	CA401363869	GAA	c.876C>A (p.Tyr292Ter)
17	g.80107817C=	CA2277812405	GAA	c.876C= (p.Tyr292=)
17	g.80107817C>G	CA401363871	GAA	c.876C>G (p.Tyr292Ter)	ClinVar dbSNP
17	g.80107817C>T	CA8815080	GAA	c.876C>T (p.Tyr292=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80107818G>A	CA116622	GAA	c.877G>A (p.Gly293Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107818G>C	CA401363876	GAA	c.877G>C (p.Gly293Arg)	ClinVar dbSNP
17	g.80107818G=	CA2277812406	GAA	c.877G= (p.Gly293=)
17	g.80107818G>T	CA401363875	GAA	c.877G>T (p.Gly293Trp)	gnomAD v4
17	g.80107819G>A	CA401363879	GAA	c.878G>A (p.Gly293Glu)
17	g.80107819G>C	CA401363881	GAA	c.878G>C (p.Gly293Ala)
17	g.80107819G=	CA2277812407	GAA	c.878G= (p.Gly293=)
17	g.80107819G>T	CA401363883	GAA	c.878G>T (p.Gly293Val)	dbSNP
17	g.80107820G>A	CA502402736	GAA	c.879G>A (p.Gly293=)	ClinVar dbSNP gnomAD v4
17	g.80107820G>C	CA502402737	GAA	c.879G>C (p.Gly293=)
17	g.80107820G>T	CA502402738	GAA	c.879G>T (p.Gly293=)
17	g.80107821T>A	CA401363885	GAA	c.880T>A (p.Ser294Thr)
17	g.80107821T>C	CA401363887	GAA	c.880T>C (p.Ser294Pro)
17	g.80107821T>G	CA401363889	GAA	c.880T>G (p.Ser294Ala)
17	g.80107822C>A	CA401363891	GAA	c.881C>A (p.Ser294Tyr)
17	g.80107822C>G	CA401363894	GAA	c.881C>G (p.Ser294Cys)
17	g.80107822C>T	CA401363892	GAA	c.881C>T (p.Ser294Phe)
17	g.80107823T>A	CA502402739	GAA	c.882T>A (p.Ser294=)
17	g.80107823T>C	CA502402740	GAA	c.882T>C (p.Ser294=)
17	g.80107823T>G	CA502402741	GAA	c.882T>G (p.Ser294=)
17	g.80107824C>A	CA8815081	GAA	c.883C>A (p.His295Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80107824C=	CA2277812408	GAA	c.883C= (p.His295=)
17	g.80107824C>G	CA401363897	GAA	c.883C>G (p.His295Asp)
17	g.80107824C>T	CA401363899	GAA	c.883C>T (p.His295Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched