Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.118108274_118110927del	CA916081523	EXT1	c.124_962+1815del c.73+51_73+2704del (n.73+51_73+2704del)	ClinVar
8	g.118109691_118110512del	CA2499219105	EXT1	c.540_962+399del c.73+467_73+1288del (n.73+467_73+1288del)	ClinVar dbSNP
8	g.118110037G>A	CA2718209217	EXT1	c.962+48C>T (n.962+48C>T) c.330+48C>T c.73+937C>T (n.73+937C>T)	dbSNP
8	g.118110038C>A	CA2688346997	EXT1	c.962+47G>T (n.962+47G>T) c.330+47G>T c.73+936G>T (n.73+936G>T)	gnomAD v4
8	g.118110038C>G	CA2688346998	EXT1	c.962+47G>C (n.962+47G>C) c.330+47G>C c.73+936G>C (n.73+936G>C)	gnomAD v4
8	g.118110038C>T	CA2718209359	EXT1	c.962+47G>A (n.962+47G>A) c.330+47G>A c.73+936G>A (n.73+936G>A)	dbSNP
8	g.118110039A>G	CA2688346999	EXT1	c.962+46T>C (n.962+46T>C) c.330+46T>C c.73+935T>C (n.73+935T>C)	dbSNP gnomAD v4
8	g.118110040G>A	CA846253334	EXT1	c.962+45C>T (n.962+45C>T) c.330+45C>T c.73+934C>T (n.73+934C>T)	dbSNP
8	g.118110040G=	CA1814088256	EXT1	c.962+45C= (n.962+45C=) c.330+45C= c.73+934C= (n.73+934C=)
8	g.118110042G>A	CA4854284	EXT1	c.962+43C>T (n.962+43C>T) c.330+43C>T c.73+932C>T (n.73+932C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110042G=	CA1814088258	EXT1	c.962+43C= (n.962+43C=) c.330+43C= c.73+932C= (n.73+932C=)
8	g.118110043C>A	CA4854285	EXT1	c.962+42G>T (n.962+42G>T) c.330+42G>T c.73+931G>T (n.73+931G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110043C=	CA1814088260	EXT1	c.962+42G= (n.962+42G=) c.330+42G= c.73+931G= (n.73+931G=)
8	g.118110045C=	CA1814088264	EXT1	c.962+40G= (n.962+40G=) c.330+40G= c.73+929G= (n.73+929G=)
8	g.118110045C>T	CA1814088265	EXT1	c.962+40G>A (n.962+40G>A) c.330+40G>A c.73+929G>A (n.73+929G>A)	dbSNP
8	g.118110048G>A	CA2579235238	EXT1	c.962+37C>T (n.962+37C>T) c.330+37C>T c.73+926C>T (n.73+926C>T)
8	g.118110048G>C	CA184682373	EXT1	c.962+37C>G (n.962+37C>G) c.330+37C>G c.73+926C>G (n.73+926C>G)	dbSNP gnomAD v4
8	g.118110048G=	CA1814088266	EXT1	c.962+37C= (n.962+37C=) c.330+37C= c.73+926C= (n.73+926C=)
8	g.118110048G>T	CA2579235239	EXT1	c.962+37C>A (n.962+37C>A) c.330+37C>A c.73+926C>A (n.73+926C>A)
8	g.118110049G>C	CA2718095157	EXT1	c.962+36C>G (n.962+36C>G) c.330+36C>G c.73+925C>G (n.73+925C>G)	dbSNP
8	g.118110049G=	CA1814088269	EXT1	c.962+36C= (n.962+36C=) c.330+36C= c.73+925C= (n.73+925C=)
8	g.118110049G>T	CA4854286	EXT1	c.962+36C>A (n.962+36C>A) c.330+36C>A c.73+925C>A (n.73+925C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110050C>T	CA2718209757	EXT1	c.962+35G>A (n.962+35G>A) c.330+35G>A c.73+924G>A (n.73+924G>A)	dbSNP
8	g.118110051dup	CA2688347000	EXT1	c.962+34dup (n.962+34dup) c.330+34dup c.73+923dup (n.73+923dup)	gnomAD v4
8	g.118110052G>C	CA2579235240	EXT1	c.962+33C>G (n.962+33C>G) c.330+33C>G c.73+922C>G (n.73+922C>G)
8	g.118110052G>T	CA2688347001	EXT1	c.962+33C>A (n.962+33C>A) c.330+33C>A c.73+922C>A (n.73+922C>A)	gnomAD v4
8	g.118110053_118110056delinsACTC	CA1814088271	EXT1	c.962+29_962+32delinsGAGT (n.962+29_962+32delinsGAGT) c.330+29_330+32delinsGAGT c.73+918_73+921delinsGAGT (n.73+918_73+921delinsGAGT)
8	g.118110054C>T	CA2718209799	EXT1	c.962+31G>A (n.962+31G>A) c.330+31G>A c.73+920G>A (n.73+920G>A)	dbSNP
8	g.118110055_118110057del	CA584473392	EXT1	c.962+29_962+31del (n.962+29_962+31del) c.330+29_330+31del c.73+918_73+920del (n.73+918_73+920del)	dbSNP gnomAD v2 gnomAD v4
8	g.118110055T>C	CA184682376	EXT1	c.962+30A>G (n.962+30A>G) c.330+30A>G c.73+919A>G (n.73+919A>G)	dbSNP gnomAD v2 gnomAD v4
8	g.118110055T>G	CA2579235241	EXT1	c.962+30A>C (n.962+30A>C) c.330+30A>C c.73+919A>C (n.73+919A>C)	gnomAD v4
8	g.118110055T=	CA1814088273	EXT1	c.962+30A= (n.962+30A=) c.330+30A= c.73+919A= (n.73+919A=)
8	g.118110056C>G	CA2688347002	EXT1	c.962+29G>C (n.962+29G>C) c.330+29G>C c.73+918G>C (n.73+918G>C)	gnomAD v4
8	g.118110058C=	CA1814088275	EXT1	c.962+27G= (n.962+27G=) c.330+27G= c.73+916G= (n.73+916G=)
8	g.118110058C>T	CA4854287	EXT1	c.962+27G>A (n.962+27G>A) c.330+27G>A c.73+916G>A (n.73+916G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110062G>A	CA2688347003	EXT1	c.962+23C>T (n.962+23C>T) c.330+23C>T c.73+912C>T (n.73+912C>T)	gnomAD v4
8	g.118110062G>C	CA584473393	EXT1	c.962+23C>G (n.962+23C>G) c.330+23C>G c.73+912C>G (n.73+912C>G)	dbSNP gnomAD v2 gnomAD v4
8	g.118110062G=	CA1814088277	EXT1	c.962+23C= (n.962+23C=) c.330+23C= c.73+912C= (n.73+912C=)
8	g.118110062G>T	CA2688347004	EXT1	c.962+23C>A (n.962+23C>A) c.330+23C>A c.73+912C>A (n.73+912C>A)	gnomAD v4
8	g.118110063A=	CA1814088278	EXT1	c.962+22T= (n.962+22T=) c.330+22T= c.73+911T= (n.73+911T=)
8	g.118110063A>G	CA4854288	EXT1	c.962+22T>C (n.962+22T>C) c.330+22T>C c.73+911T>C (n.73+911T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110064C>T	CA2718209800	EXT1	c.962+21G>A (n.962+21G>A) c.330+21G>A c.73+910G>A (n.73+910G>A)	dbSNP
8	g.118110065A=	CA1814088279	EXT1	c.962+20T= (n.962+20T=) c.330+20T= c.73+909T= (n.73+909T=)
8	g.118110065A>C	CA1118366413	EXT1	c.962+20T>G (n.962+20T>G) c.330+20T>G c.73+909T>G (n.73+909T>G)	dbSNP gnomAD v3 gnomAD v4
8	g.118110066C=	CA1814088281	EXT1	c.962+19G= (n.962+19G=) c.330+19G= c.73+908G= (n.73+908G=)
8	g.118110066C>G	CA2688347005	EXT1	c.962+19G>C (n.962+19G>C) c.330+19G>C c.73+908G>C (n.73+908G>C)	gnomAD v4
8	g.118110066C>T	CA184682380	EXT1	c.962+19G>A (n.962+19G>A) c.330+19G>A c.73+908G>A (n.73+908G>A)	dbSNP gnomAD v4
8	g.118110067G>A	CA4854289	EXT1	c.962+18C>T (n.962+18C>T) c.330+18C>T c.73+907C>T (n.73+907C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110067G>C	CA2718094732	EXT1	c.962+18C>G (n.962+18C>G) c.330+18C>G c.73+907C>G (n.73+907C>G)	dbSNP
8	g.118110067G=	CA1814088283	EXT1	c.962+18C= (n.962+18C=) c.330+18C= c.73+907C= (n.73+907C=)
8	g.118110067_118110068delinsGC	CA1814088284	EXT1	c.962+17_962+18delinsGC (n.962+17_962+18delinsGC) c.330+17_330+18delinsGC c.73+906_73+907delinsGC (n.73+906_73+907delinsGC)
8	g.118110068C=	CA1814088286	EXT1	c.962+17G= (n.962+17G=) c.330+17G= c.73+906G= (n.73+906G=)
8	g.118110068C>T	CA184682382	EXT1	c.962+17G>A (n.962+17G>A) c.330+17G>A c.73+906G>A (n.73+906G>A)	dbSNP
8	g.118110069del	CA4854290	EXT1	c.962+17del (n.962+17del) c.330+17del c.73+906del (n.73+906del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110069C>G	CA2688347006	EXT1	c.962+16G>C (n.962+16G>C) c.330+16G>C c.73+905G>C (n.73+905G>C)	gnomAD v4
8	g.118110070A>G	CA2688347007	EXT1	c.962+15T>C (n.962+15T>C) c.330+15T>C c.73+904T>C (n.73+904T>C)	gnomAD v4
8	g.118110071G>A	CA4854291	EXT1	c.962+14C>T (n.962+14C>T) c.330+14C>T c.73+903C>T (n.73+903C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110071G=	CA1814088288	EXT1	c.962+14C= (n.962+14C=) c.330+14C= c.73+903C= (n.73+903C=)
8	g.118110071G>T	CA2688347008	EXT1	c.962+14C>A (n.962+14C>A) c.330+14C>A c.73+903C>A (n.73+903C>A)	gnomAD v4
8	g.118110072C>A	CA2579235242	EXT1	c.962+13G>T (n.962+13G>T) c.330+13G>T c.73+902G>T (n.73+902G>T)
8	g.118110072C=	CA1814088289	EXT1	c.962+13G= (n.962+13G=) c.330+13G= c.73+902G= (n.73+902G=)
8	g.118110072C>G	CA1814088290	EXT1	c.962+13G>C (n.962+13G>C) c.330+13G>C c.73+902G>C (n.73+902G>C)	dbSNP
8	g.118110072C>T	CA2718150859	EXT1	c.962+13G>A (n.962+13G>A) c.330+13G>A c.73+902G>A (n.73+902G>A)	dbSNP
8	g.118110073_118110080del	CA2688347009	EXT1	c.962+6_962+13del (n.962+6_962+13del) c.330+6_330+13del c.73+895_73+902del (n.73+895_73+902del)	gnomAD v4
8	g.118110073C>A	CA4854293	EXT1	c.962+12G>T (n.962+12G>T) c.330+12G>T c.73+901G>T (n.73+901G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110073C=	CA1814088292	EXT1	c.962+12G= (n.962+12G=) c.330+12G= c.73+901G= (n.73+901G=)
8	g.118110073C>T	CA1814088293	EXT1	c.962+12G>A (n.962+12G>A) c.330+12G>A c.73+901G>A (n.73+901G>A)	dbSNP
8	g.118110073_118110077delinsCCAGA	CA1814088296	EXT1	c.962+8_962+12delinsTCTGG (n.962+8_962+12delinsTCTGG) c.330+8_330+12delinsTCTGG c.73+897_73+901delinsTCTGG (n.73+897_73+901delinsTCTGG)
8	g.118110076_118110079dup	CA184682387	EXT1	c.962+8_962+11dup (n.962+8_962+11dup) c.330+8_330+11dup c.73+897_73+900dup (n.73+897_73+900dup)	dbSNP
8	g.118110076_118110079del	CA4854292	EXT1	c.962+8_962+11del (n.962+8_962+11del) c.330+8_330+11del c.73+897_73+900del (n.73+897_73+900del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110076G>A	CA2688347010	EXT1	c.962+9C>T (n.962+9C>T) c.330+9C>T c.73+898C>T (n.73+898C>T)	gnomAD v4
8	g.118110076G>C	CA2718209819	EXT1	c.962+9C>G (n.962+9C>G) c.330+9C>G c.73+898C>G (n.73+898C>G)	dbSNP
8	g.118110077A=	CA1814088301	EXT1	c.962+8T= (n.962+8T=) c.330+8T= c.73+897T= (n.73+897T=)
8	g.118110077A>C	CA1814088302	EXT1	c.962+8T>G (n.962+8T>G) c.330+8T>G c.73+897T>G (n.73+897T>G)	dbSNP
8	g.118110078C>A	CA1814088307	EXT1	c.962+7G>T (n.962+7G>T) c.330+7G>T c.73+896G>T (n.73+896G>T)	dbSNP gnomAD v4
8	g.118110078C=	CA1814088305	EXT1	c.962+7G= (n.962+7G=) c.330+7G= c.73+896G= (n.73+896G=)
8	g.118110078C>G	CA4854295	EXT1	c.962+7G>C (n.962+7G>C) c.330+7G>C c.73+896G>C (n.73+896G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110078C>T	CA4854294	EXT1	c.962+7G>A (n.962+7G>A) c.330+7G>A c.73+896G>A (n.73+896G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110078_118110082delinsCACTT	CA1814088308	EXT1	c.962+3_962+7delinsAAGTG (n.962+3_962+7delinsAAGTG) c.330+3_330+7delinsAAGTG c.73+892_73+896delinsAAGTG (n.73+892_73+896delinsAAGTG)
8	g.118110079A=	CA1814088314	EXT1	c.962+6T= (n.962+6T=) c.330+6T= c.73+895T= (n.73+895T=)
8	g.118110079A>G	CA4854296	EXT1	c.962+6T>C (n.962+6T>C) c.330+6T>C c.73+895T>C (n.73+895T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110079A>T	CA2718098367	EXT1	c.962+6T>A (n.962+6T>A) c.330+6T>A c.73+895T>A (n.73+895T>A)	dbSNP
8	g.118110083_118110086del	CA913184923	EXT1	c.962+3_962+6del c.330+3_330+6del c.73+892_73+895del (n.73+892_73+895del)	ClinVar dbSNP gnomAD v4
8	g.118110080C=	CA1814088316	EXT1	c.962+5G= (n.962+5G=) c.330+5G= c.73+894G= (n.73+894G=)
8	g.118110080C>G	CA1814088318	EXT1	c.962+5G>C (n.962+5G>C) c.330+5G>C c.73+894G>C (n.73+894G>C)	ClinVar dbSNP
8	g.118110080C>T	CA2688347011	EXT1	c.962+5G>A (n.962+5G>A) c.330+5G>A c.73+894G>A (n.73+894G>A)	gnomAD v4
8	g.118110082T>C	CA4854297	EXT1	c.962+3A>G (n.962+3A>G) c.330+3A>G c.73+892A>G (n.73+892A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110082T=	CA1814088320	EXT1	c.962+3A= (n.962+3A=) c.330+3A= c.73+892A= (n.73+892A=)
8	g.118110083A>C	CA371914647	EXT1	c.962+2T>G (n.962+2T>G) c.330+2T>G c.73+891T>G (n.73+891T>G)
8	g.118110083A>G	CA371914648	EXT1	c.962+2T>C (n.962+2T>C) c.330+2T>C c.73+891T>C (n.73+891T>C)
8	g.118110083A>T	CA371914649	EXT1	c.962+2T>A (n.962+2T>A) c.330+2T>A c.73+891T>A (n.73+891T>A)
8	g.118110084C>A	CA10588450	EXT1	c.962+1G>T (n.962+1G>T) c.330+1G>T c.73+890G>T (n.73+890G>T)	ClinVar dbSNP COSMIC
8	g.118110084C=	CA1814088325	EXT1	c.962+1G= (n.962+1G=) c.330+1G= c.73+890G= (n.73+890G=)
8	g.118110084C>G	CA371914651	EXT1	c.962+1G>C (n.962+1G>C) c.330+1G>C c.73+890G>C (n.73+890G>C)	ClinVar dbSNP
8	g.118110084C>T	CA371914650	EXT1	c.962+1G>A (n.962+1G>A) c.330+1G>A c.73+890G>A (n.73+890G>A)	ClinVar dbSNP
8	g.118110085T>A	CA371914652	EXT1	c.962A>T (p.Lys321Met) c.330A>T c.73+889A>T (n.73+889A>T)
8	g.118110085T>C	CA4854298	EXT1	c.962A>G (p.Lys321Arg) c.330A>G c.73+889A>G (n.73+889A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110085T>G	CA371914653	EXT1	c.962A>C (p.Lys321Thr) c.330A>C c.73+889A>C (n.73+889A>C)	gnomAD v4
8	g.118110085T=	CA1814088329	EXT1	c.962A= (p.Lys321=) c.330A= c.73+889A= (n.73+889A=)
8	g.118110086T>A	CA371914654	EXT1	c.961A>T (p.Lys321Ter) c.329A>T c.73+888A>T (n.73+888A>T)	ClinVar dbSNP
8	g.118110086T>C	CA371914655	EXT1	c.961A>G (p.Lys321Glu) c.329A>G c.73+888A>G (n.73+888A>G)
8	g.118110086T>G	CA371914656	EXT1	c.961A>C (p.Lys321Gln) c.329A>C c.73+888A>C (n.73+888A>C)
8	g.118110086T=	CA1814088333	EXT1	c.961A= (p.Lys321=) c.329A= c.73+888A= (n.73+888A=)
8	g.118110087del	CA2695210132	EXT1	c.960del (p.Lys321SerfsTer?) c.328del c.73+887del (n.73+887del)
8	g.118110087C>A	CA371914657	EXT1	c.960G>T (p.Glu320Asp) c.328G>T c.73+887G>T (n.73+887G>T)
8	g.118110087C>G	CA371914658	EXT1	c.960G>C (p.Glu320Asp) c.328G>C c.73+887G>C (n.73+887G>C)
8	g.118110087C>T	CA462471421	EXT1	c.960G>A (p.Glu320=) c.328G>A c.73+887G>A (n.73+887G>A)
8	g.118110088del	CA462471422	EXT1	c.959del (p.Glu320GlyfsTer?) c.327del c.73+886del (n.73+886del)	COSMIC
8	g.118110088T>A	CA371914659	EXT1	c.959A>T (p.Glu320Val) c.327A>T c.73+886A>T (n.73+886A>T)
8	g.118110088T>C	CA371914660	EXT1	c.959A>G (p.Glu320Gly) c.327A>G c.73+886A>G (n.73+886A>G)
8	g.118110088T>G	CA371914661	EXT1	c.959A>C (p.Glu320Ala) c.327A>C c.73+886A>C (n.73+886A>C)
8	g.118110089C>A	CA371914662	EXT1	c.958G>T (p.Glu320Ter) c.326G>T c.73+885G>T (n.73+885G>T)	dbSNP
8	g.118110089C=	CA1814088336	EXT1	c.958G= (p.Glu320=) c.326G= c.73+885G= (n.73+885G=)
8	g.118110089C>G	CA371914663	EXT1	c.958G>C (p.Glu320Gln) c.326G>C c.73+885G>C (n.73+885G>C)	dbSNP gnomAD v2 gnomAD v4
8	g.118110089C>T	CA371914664	EXT1	c.958G>A (p.Glu320Lys) c.326G>A c.73+885G>A (n.73+885G>A)	dbSNP
8	g.118110090A=	CA1814088340	EXT1	c.957T= (p.Tyr319=) c.325T= c.73+884T= (n.73+884T=)
8	g.118110090A>C	CA371914666	EXT1	c.957T>G (p.Tyr319Ter) c.325T>G c.73+884T>G (n.73+884T>G)	gnomAD v4
8	g.118110090A>G	CA462471423	EXT1	c.957T>C (p.Tyr319=) c.325T>C c.73+884T>C (n.73+884T>C)
8	g.118110090A>T	CA371914665	EXT1	c.957T>A (p.Tyr319Ter) c.325T>A c.73+884T>A (n.73+884T>A)	ClinVar dbSNP
8	g.118110091T>A	CA371914667	EXT1	c.956A>T (p.Tyr319Phe) c.324A>T c.73+883A>T (n.73+883A>T)	gnomAD v4
8	g.118110091T>C	CA371914669	EXT1	c.956A>G (p.Tyr319Cys) c.324A>G c.73+883A>G (n.73+883A>G)	gnomAD v4
8	g.118110091T>G	CA371914668	EXT1	c.956A>C (p.Tyr319Ser) c.324A>C c.73+883A>C (n.73+883A>C)
8	g.118110092A=	CA1814088343	EXT1	c.955T= (p.Tyr319=) c.323T= c.73+882T= (n.73+882T=)
8	g.118110092A>C	CA371914670	EXT1	c.955T>G (p.Tyr319Asp) c.323T>G c.73+882T>G (n.73+882T>G)
8	g.118110092A>G	CA371914672	EXT1	c.955T>C (p.Tyr319His) c.323T>C c.73+882T>C (n.73+882T>C)	dbSNP
8	g.118110092A>T	CA371914671	EXT1	c.955T>A (p.Tyr319Asn) c.323T>A c.73+882T>A (n.73+882T>A)	dbSNP gnomAD v4
8	g.118110093C>A	CA371914673	EXT1	c.954G>T (p.Glu318Asp) c.322G>T c.73+881G>T (n.73+881G>T)
8	g.118110093C=	CA1814088345	EXT1	c.954G= (p.Glu318=) c.322G= c.73+881G= (n.73+881G=)
8	g.118110093C>G	CA371914674	EXT1	c.954G>C (p.Glu318Asp) c.322G>C c.73+881G>C (n.73+881G>C)	gnomAD v4
8	g.118110093C>T	CA462471424	EXT1	c.954G>A (p.Glu318=) c.322G>A c.73+881G>A (n.73+881G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110094T>A	CA371914675	EXT1	c.953A>T (p.Glu318Val) c.321A>T c.73+880A>T (n.73+880A>T)
8	g.118110094T>C	CA371914676	EXT1	c.953A>G (p.Glu318Gly) c.321A>G c.73+880A>G (n.73+880A>G)	dbSNP
8	g.118110094T>G	CA371914677	EXT1	c.953A>C (p.Glu318Ala) c.321A>C c.73+880A>C (n.73+880A>C)	gnomAD v4
8	g.118110094T=	CA1814088347	EXT1	c.953A= (p.Glu318=) c.321A= c.73+880A= (n.73+880A=)
8	g.118110095C>A	CA371914678	EXT1	c.952G>T (p.Glu318Ter) c.320G>T c.73+879G>T (n.73+879G>T)
8	g.118110095C>G	CA371914679	EXT1	c.952G>C (p.Glu318Gln) c.320G>C c.73+879G>C (n.73+879G>C)	gnomAD v4
8	g.118110095C>T	CA371914680	EXT1	c.952G>A (p.Glu318Lys) c.320G>A c.73+879G>A (n.73+879G>A)
8	g.118110096G>A	CA462471425	EXT1	c.951C>T (p.Thr317=) c.319C>T c.73+878C>T (n.73+878C>T)	dbSNP gnomAD v4
8	g.118110096G>C	CA462471426	EXT1	c.951C>G (p.Thr317=) c.319C>G c.73+878C>G (n.73+878C>G)	dbSNP gnomAD v4
8	g.118110096G=	CA1814088351	EXT1	c.951C= (p.Thr317=) c.319C= c.73+878C= (n.73+878C=)
8	g.118110096G>T	CA462471427	EXT1	c.951C>A (p.Thr317=) c.319C>A c.73+878C>A (n.73+878C>A)	dbSNP
8	g.118110097G>A	CA371914681	EXT1	c.950C>T (p.Thr317Ile) c.318C>T c.73+877C>T (n.73+877C>T)	dbSNP
8	g.118110097G>C	CA4854299	EXT1	c.950C>G (p.Thr317Ser) c.318C>G c.73+877C>G (n.73+877C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110097G=	CA1814088353	EXT1	c.950C= (p.Thr317=) c.318C= c.73+877C= (n.73+877C=)
8	g.118110097G>T	CA371914682	EXT1	c.950C>A (p.Thr317Asn) c.318C>A c.73+877C>A (n.73+877C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.118110098del	CA2697550118	EXT1	c.949del (p.Thr317ProfsTer?) c.317del c.73+876del (n.73+876del)	ClinVar
8	g.118110098T>A	CA371914685	EXT1	c.949A>T (p.Thr317Ser) c.317A>T c.73+876A>T (n.73+876A>T)
8	g.118110098T>C	CA371914683	EXT1	c.949A>G (p.Thr317Ala) c.317A>G c.73+876A>G (n.73+876A>G)
8	g.118110098T>G	CA371914684	EXT1	c.949A>C (p.Thr317Pro) c.317A>C c.73+876A>C (n.73+876A>C)
8	g.118110099G>A	CA462471428	EXT1	c.948C>T (p.Asn316=) c.316C>T c.73+875C>T (n.73+875C>T)	dbSNP
8	g.118110099G>C	CA371914686	EXT1	c.948C>G (p.Asn316Lys) c.316C>G c.73+875C>G (n.73+875C>G)
8	g.118110099G>T	CA371914687	EXT1	c.948C>A (p.Asn316Lys) c.316C>A c.73+875C>A (n.73+875C>A)
8	g.118110100T>A	CA371914688	EXT1	c.947A>T (p.Asn316Ile) c.315A>T c.73+874A>T (n.73+874A>T)
8	g.118110100T>C	CA371914689	EXT1	c.947A>G (p.Asn316Ser) c.315A>G c.73+874A>G (n.73+874A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.118110100T>G	CA371914690	EXT1	c.947A>C (p.Asn316Thr) c.315A>C c.73+874A>C (n.73+874A>C)
8	g.118110100T=	CA1814088355	EXT1	c.947A= (p.Asn316=) c.315A= c.73+874A= (n.73+874A=)
8	g.118110101T>A	CA371914691	EXT1	c.946A>T (p.Asn316Tyr) c.314A>T c.73+873A>T (n.73+873A>T)
8	g.118110101T>C	CA371914692	EXT1	c.946A>G (p.Asn316Asp) c.314A>G c.73+873A>G (n.73+873A>G)	gnomAD v4
8	g.118110101T>G	CA371914693	EXT1	c.946A>C (p.Asn316His) c.314A>C c.73+873A>C (n.73+873A>C)
8	g.118110102G>A	CA462471429	EXT1	c.945C>T (p.Asp315=) c.313C>T c.73+872C>T (n.73+872C>T)	dbSNP
8	g.118110102G>C	CA371914694	EXT1	c.945C>G (p.Asp315Glu) c.313C>G c.73+872C>G (n.73+872C>G)
8	g.118110102G=	CA1814088357	EXT1	c.945C= (p.Asp315=) c.313C= c.73+872C= (n.73+872C=)
8	g.118110102G>T	CA371914695	EXT1	c.945C>A (p.Asp315Glu) c.313C>A c.73+872C>A (n.73+872C>A)
8	g.118110103T>A	CA371914698	EXT1	c.944A>T (p.Asp315Val) c.312A>T c.73+871A>T (n.73+871A>T)
8	g.118110103T>C	CA371914697	EXT1	c.944A>G (p.Asp315Gly) c.312A>G c.73+871A>G (n.73+871A>G)
8	g.118110103T>G	CA371914696	EXT1	c.944A>C (p.Asp315Ala) c.312A>C c.73+871A>C (n.73+871A>C)
8	g.118110106_118110107del	CA2548052743	EXT1	c.943_944del (p.Asp315GlnfsTer5) c.311_312del c.73+870_73+871del (n.73+870_73+871del)
8	g.118110104C>A	CA371914699	EXT1	c.943G>T (p.Asp315Tyr) c.311G>T c.73+870G>T (n.73+870G>T)
8	g.118110104C=	CA1814088359	EXT1	c.943G= (p.Asp315=) c.311G= c.73+870G= (n.73+870G=)
8	g.118110104C>G	CA371914700	EXT1	c.943G>C (p.Asp315His) c.311G>C c.73+870G>C (n.73+870G>C)
8	g.118110104C>T	CA371914701	EXT1	c.943G>A (p.Asp315Asn) c.311G>A c.73+870G>A (n.73+870G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.118110105T>A	CA371914702	EXT1	c.942A>T (p.Arg314Ser) c.310A>T c.73+869A>T (n.73+869A>T)
8	g.118110105T>C	CA462471431	EXT1	c.942A>G (p.Arg314=) c.310A>G c.73+869A>G (n.73+869A>G)
8	g.118110105T>G	CA371914703	EXT1	c.942A>C (p.Arg314Ser) c.310A>C c.73+869A>C (n.73+869A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110105T=	CA1814088361	EXT1	c.942A= (p.Arg314=) c.310A= c.73+869A= (n.73+869A=)
8	g.118110106C>A	CA371914704	EXT1	c.941G>T (p.Arg314Ile) c.309G>T c.73+868G>T (n.73+868G>T)
8	g.118110106C>G	CA371914705	EXT1	c.941G>C (p.Arg314Thr) c.309G>C c.73+868G>C (n.73+868G>C)	dbSNP
8	g.118110106C>T	CA371914706	EXT1	c.941G>A (p.Arg314Lys) c.309G>A c.73+868G>A (n.73+868G>A)
8	g.118110107T>A	CA371914707	EXT1	c.940A>T (p.Arg314Ter) c.308A>T c.73+867A>T (n.73+867A>T)
8	g.118110107T>C	CA371914708	EXT1	c.940A>G (p.Arg314Gly) c.308A>G c.73+867A>G (n.73+867A>G)
8	g.118110107T>G	CA462471432	EXT1	c.940A>C (p.Arg314=) c.308A>C c.73+867A>C (n.73+867A>C)
8	g.118110108G>A	CA462471433	EXT1	c.939C>T (p.Asp313=) c.307C>T c.73+866C>T (n.73+866C>T)	dbSNP gnomAD v2 gnomAD v4
8	g.118110108G>C	CA371914709	EXT1	c.939C>G (p.Asp313Glu) c.307C>G c.73+866C>G (n.73+866C>G)	gnomAD v4
8	g.118110108G=	CA1814088364	EXT1	c.939C= (p.Asp313=) c.307C= c.73+866C= (n.73+866C=)
8	g.118110108G>T	CA371914710	EXT1	c.939C>A (p.Asp313Glu) c.307C>A c.73+866C>A (n.73+866C>A)
8	g.118110109T>A	CA371914713	EXT1	c.938A>T (p.Asp313Val) c.306A>T c.73+865A>T (n.73+865A>T)
8	g.118110109T>C	CA371914711	EXT1	c.938A>G (p.Asp313Gly) c.306A>G c.73+865A>G (n.73+865A>G)
8	g.118110109T>G	CA371914712	EXT1	c.938A>C (p.Asp313Ala) c.306A>C c.73+865A>C (n.73+865A>C)
8	g.118110110C>A	CA371914714	EXT1	c.937G>T (p.Asp313Tyr) c.305G>T c.73+864G>T (n.73+864G>T)
8	g.118110110C>G	CA371914715	EXT1	c.937G>C (p.Asp313His) c.305G>C c.73+864G>C (n.73+864G>C)
8	g.118110110C>T	CA371914716	EXT1	c.937G>A (p.Asp313Asn) c.305G>A c.73+864G>A (n.73+864G>A)
8	g.118110110_118110113delinsCACA	CA1814088366	EXT1	c.934_937delinsTGTG (p.Cys312=) c.302_305delinsTGTG c.73+861_73+864delinsTGTG (n.73+861_73+864delinsTGTG)
8	g.118110111A>C	CA371914717	EXT1	c.936T>G (p.Cys312Trp) c.304T>G c.73+863T>G (n.73+863T>G)
8	g.118110111A>G	CA462471434	EXT1	c.936T>C (p.Cys312=) c.304T>C c.73+863T>C (n.73+863T>C)	COSMIC
8	g.118110111A>T	CA371914718	EXT1	c.936T>A (p.Cys312Ter) c.304T>A c.73+863T>A (n.73+863T>A)	ClinVar dbSNP
8	g.118110111_118110113del	CA916081524	EXT1	c.934_936del (p.Cys312del) c.302_304del c.73+861_73+863del (n.73+861_73+863del)	ClinVar dbSNP
8	g.118110112_118110117del	CA645562741	EXT1	c.931_936del (p.Arg311_Cys312del) c.299_304del c.73+858_73+863del (n.73+858_73+863del)	COSMIC
8	g.118110112C>A	CA371914719	EXT1	c.935G>T (p.Cys312Phe) c.303G>T c.73+862G>T (n.73+862G>T)
8	g.118110112C>G	CA371914720	EXT1	c.935G>C (p.Cys312Ser) c.303G>C c.73+862G>C (n.73+862G>C)
8	g.118110112C>T	CA371914721	EXT1	c.935G>A (p.Cys312Tyr) c.303G>A c.73+862G>A (n.73+862G>A)	gnomAD v4
8	g.118110113del	CA2695210133	EXT1	c.934del (p.Cys312ValfsTer?) c.302del c.73+861del (n.73+861del)
8	g.118110113A=	CA1814088370	EXT1	c.934T= (p.Cys312=) c.302T= c.73+861T= (n.73+861T=)
8	g.118110113A>C	CA371914722	EXT1	c.934T>G (p.Cys312Gly) c.302T>G c.73+861T>G (n.73+861T>G)
8	g.118110113A>G	CA371914723	EXT1	c.934T>C (p.Cys312Arg) c.302T>C c.73+861T>C (n.73+861T>C)	ClinVar dbSNP
8	g.118110113A>T	CA371914724	EXT1	c.934T>A (p.Cys312Ser) c.302T>A c.73+861T>A (n.73+861T>A)	dbSNP
8	g.118110114G>A	CA4854300	EXT1	c.933C>T (p.Arg311=) c.301C>T c.73+860C>T (n.73+860C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.118110114G>C	CA462471437	EXT1	c.933C>G (p.Arg311=) c.301C>G c.73+860C>G (n.73+860C>G)
8	g.118110114G=	CA1814088372	EXT1	c.933C= (p.Arg311=) c.301C= c.73+860C= (n.73+860C=)
8	g.118110114G>T	CA462471438	EXT1	c.933C>A (p.Arg311=) c.301C>A c.73+860C>A (n.73+860C>A)
8	g.118110115C>A	CA4854301	EXT1	c.932G>T (p.Arg311Leu) c.300G>T c.73+859G>T (n.73+859G>T)	dbSNP ExAC gnomAD v4
8	g.118110115C=	CA1814088374	EXT1	c.932G= (p.Arg311=) c.300G= c.73+859G= (n.73+859G=)
8	g.118110115C>G	CA371914726	EXT1	c.932G>C (p.Arg311Pro) c.300G>C c.73+859G>C (n.73+859G>C)
8	g.118110115C>T	CA371914725	EXT1	c.932G>A (p.Arg311His) c.300G>A c.73+859G>A (n.73+859G>A)
8	g.118110116G>A	CA371914729	EXT1	c.931C>T (p.Arg311Cys) c.299C>T c.73+858C>T (n.73+858C>T)
8	g.118110116G>C	CA371914727	EXT1	c.931C>G (p.Arg311Gly) c.299C>G c.73+858C>G (n.73+858C>G)
8	g.118110116G=	CA1814088375	EXT1	c.931C= (p.Arg311=) c.299C= c.73+858C= (n.73+858C=)
8	g.118110116G>T	CA371914728	EXT1	c.931C>A (p.Arg311Ser) c.299C>A c.73+858C>A (n.73+858C>A)	dbSNP
8	g.118110117A>C	CA462471439	EXT1	c.930T>G (p.Ser310=) c.298T>G c.73+857T>G (n.73+857T>G)
8	g.118110117A>G	CA462471440	EXT1	c.930T>C (p.Ser310=) c.298T>C c.73+857T>C (n.73+857T>C)
8	g.118110117A>T	CA462471441	EXT1	c.930T>A (p.Ser310=) c.298T>A c.73+857T>A (n.73+857T>A)
8	g.118110118G>A	CA184682397	EXT1	c.929C>T (p.Ser310Phe) c.297C>T c.73+856C>T (n.73+856C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.118110118G>C	CA371914730	EXT1	c.929C>G (p.Ser310Cys) c.297C>G c.73+856C>G (n.73+856C>G)
8	g.118110118G=	CA1814088377	EXT1	c.929C= (p.Ser310=) c.297C= c.73+856C= (n.73+856C=)
8	g.118110118G>T	CA371914731	EXT1	c.929C>A (p.Ser310Tyr) c.297C>A c.73+856C>A (n.73+856C>A)
8	g.118110119A>C	CA371914732	EXT1	c.928T>G (p.Ser310Ala) c.296T>G c.73+855T>G (n.73+855T>G)
8	g.118110119A>G	CA371914733	EXT1	c.928T>C (p.Ser310Pro) c.296T>C c.73+855T>C (n.73+855T>C)
8	g.118110119A>T	CA371914734	EXT1	c.928T>A (p.Ser310Thr) c.296T>A c.73+855T>A (n.73+855T>A)
8	g.118110120A>C	CA371914735	EXT1	c.927T>G (p.Asp309Glu) c.295T>G c.73+854T>G (n.73+854T>G)
8	g.118110120A>G	CA462471442	EXT1	c.927T>C (p.Asp309=) c.295T>C c.73+854T>C (n.73+854T>C)
8	g.118110120A>T	CA371914736	EXT1	c.927T>A (p.Asp309Glu) c.295T>A c.73+854T>A (n.73+854T>A)
8	g.118110121T>A	CA371914737	EXT1	c.926A>T (p.Asp309Val) c.294A>T c.73+853A>T (n.73+853A>T)
8	g.118110121T>C	CA371914738	EXT1	c.926A>G (p.Asp309Gly) c.294A>G c.73+853A>G (n.73+853A>G)
8	g.118110121T>G	CA371914739	EXT1	c.926A>C (p.Asp309Ala) c.294A>C c.73+853A>C (n.73+853A>C)
8	g.118110122C>A	CA371914740	EXT1	c.925G>T (p.Asp309Tyr) c.293G>T c.73+852G>T (n.73+852G>T)
8	g.118110122C>G	CA371914742	EXT1	c.925G>C (p.Asp309His) c.293G>C c.73+852G>C (n.73+852G>C)	dbSNP gnomAD v4
8	g.118110122C>T	CA371914741	EXT1	c.925G>A (p.Asp309Asn) c.293G>A c.73+852G>A (n.73+852G>A)	dbSNP
8	g.118110123C>A	CA371914743	EXT1	c.924G>T (p.Lys308Asn) c.292G>T c.73+851G>T (n.73+851G>T)	dbSNP COSMIC
8	g.118110123C=	CA1814088380	EXT1	c.924G= (p.Lys308=) c.292G= c.73+851G= (n.73+851G=)
8	g.118110123C>G	CA371914744	EXT1	c.924G>C (p.Lys308Asn) c.292G>C c.73+851G>C (n.73+851G>C)
8	g.118110123C>T	CA4854302	EXT1	c.924G>A (p.Lys308=) c.292G>A c.73+851G>A (n.73+851G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110124T>A	CA371914745	EXT1	c.923A>T (p.Lys308Met) c.291A>T c.73+850A>T (n.73+850A>T)
8	g.118110124T>C	CA4854303	EXT1	c.923A>G (p.Lys308Arg) c.291A>G c.73+850A>G (n.73+850A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.118110124T>G	CA371914746	EXT1	c.923A>C (p.Lys308Thr) c.291A>C c.73+850A>C (n.73+850A>C)	gnomAD v4
8	g.118110124T=	CA1814088382	EXT1	c.923A= (p.Lys308=) c.291A= c.73+850A= (n.73+850A=)
8	g.118110125T>A	CA371914747	EXT1	c.922A>T (p.Lys308Ter) c.290A>T c.73+849A>T (n.73+849A>T)
8	g.118110125T>C	CA371914748	EXT1	c.922A>G (p.Lys308Glu) c.290A>G c.73+849A>G (n.73+849A>G)
8	g.118110125T>G	CA371914749	EXT1	c.922A>C (p.Lys308Gln) c.290A>C c.73+849A>C (n.73+849A>C)	gnomAD v4
8	g.118110126G>A	CA462471443	EXT1	c.921C>T (p.His307=) c.289C>T c.73+848C>T (n.73+848C>T)
8	g.118110126G>C	CA371914750	EXT1	c.921C>G (p.His307Gln) c.289C>G c.73+848C>G (n.73+848C>G)
8	g.118110126G>T	CA371914751	EXT1	c.921C>A (p.His307Gln) c.289C>A c.73+848C>A (n.73+848C>A)
8	g.118110127T>A	CA371914753	EXT1	c.920A>T (p.His307Leu) c.288A>T c.73+847A>T (n.73+847A>T)
8	g.118110127T>C	CA371914754	EXT1	c.920A>G (p.His307Arg) c.288A>G c.73+847A>G (n.73+847A>G)
8	g.118110127T>G	CA371914752	EXT1	c.920A>C (p.His307Pro) c.288A>C c.73+847A>C (n.73+847A>C)	gnomAD v4
8	g.118110128G>A	CA371914755	EXT1	c.919C>T (p.His307Tyr) c.287C>T c.73+846C>T (n.73+846C>T)	gnomAD v4
8	g.118110128G>C	CA371914756	EXT1	c.919C>G (p.His307Asp) c.287C>G c.73+846C>G (n.73+846C>G)
8	g.118110128G>T	CA371914757	EXT1	c.919C>A (p.His307Asn) c.287C>A c.73+846C>A (n.73+846C>A)
8	g.118110129del	CA2695210134	EXT1	c.918del (p.Lys306AsnfsTer?) c.286del c.73+845del (n.73+845del)
8	g.118110129C>A	CA371914758	EXT1	c.918G>T (p.Lys306Asn) c.286G>T c.73+845G>T (n.73+845G>T)	ClinVar dbSNP
8	g.118110129C=	CA1814088384	EXT1	c.918G= (p.Lys306=) c.286G= c.73+845G= (n.73+845G=)
8	g.118110129C>G	CA371914759	EXT1	c.918G>C (p.Lys306Asn) c.286G>C c.73+845G>C (n.73+845G>C)
8	g.118110129C>T	CA184682400	EXT1	c.918G>A (p.Lys306=) c.286G>A c.73+845G>A (n.73+845G>A)	dbSNP gnomAD v4
8	g.118110130T>A	CA371914760	EXT1	c.917A>T (p.Lys306Met) c.285A>T c.73+844A>T (n.73+844A>T)
8	g.118110130T>C	CA371914761	EXT1	c.917A>G (p.Lys306Arg) c.285A>G c.73+844A>G (n.73+844A>G)
8	g.118110130T>G	CA371914762	EXT1	c.917A>C (p.Lys306Thr) c.285A>C c.73+844A>C (n.73+844A>C)
8	g.118110133dup	CA16618588	EXT1	c.917dup (p.His307AlafsTer7) c.285dup c.73+844dup (n.73+844dup)	ClinVar dbSNP
8	g.118110133del	CA2695210135	EXT1	c.917del (p.Lys306SerfsTer?) c.285del c.73+844del (n.73+844del)
8	g.118110131T>A	CA371914763	EXT1	c.916A>T (p.Lys306Ter) c.284A>T c.73+843A>T (n.73+843A>T)
8	g.118110131T>C	CA371914764	EXT1	c.916A>G (p.Lys306Glu) c.284A>G c.73+843A>G (n.73+843A>G)
8	g.118110131T>G	CA371914765	EXT1	c.916A>C (p.Lys306Gln) c.284A>C c.73+843A>C (n.73+843A>C)
8	g.118110132T>A	CA371914766	EXT1	c.915A>T (p.Gln305His) c.283A>T c.73+842A>T (n.73+842A>T)
8	g.118110132T>C	CA462471444	EXT1	c.915A>G (p.Gln305=) c.283A>G c.73+842A>G (n.73+842A>G)
8	g.118110132T>G	CA371914767	EXT1	c.915A>C (p.Gln305His) c.283A>C c.73+842A>C (n.73+842A>C)
8	g.118110133T>A	CA371914770	EXT1	c.914A>T (p.Gln305Leu) c.282A>T c.73+841A>T (n.73+841A>T)
8	g.118110133T>C	CA371914769	EXT1	c.914A>G (p.Gln305Arg) c.282A>G c.73+841A>G (n.73+841A>G)	ClinVar gnomAD v4
8	g.118110133T>G	CA371914768	EXT1	c.914A>C (p.Gln305Pro) c.282A>C c.73+841A>C (n.73+841A>C)
8	g.118110134G>A	CA371914771	EXT1	c.913C>T (p.Gln305Ter) c.281C>T c.73+840C>T (n.73+840C>T)	ClinVar dbSNP
8	g.118110134G>C	CA371914772	EXT1	c.913C>G (p.Gln305Glu) c.281C>G c.73+840C>G (n.73+840C>G)
8	g.118110134G=	CA1814088388	EXT1	c.913C= (p.Gln305=) c.281C= c.73+840C= (n.73+840C=)
8	g.118110134G>T	CA371914773	EXT1	c.913C>A (p.Gln305Lys) c.281C>A c.73+840C>A (n.73+840C>A)	gnomAD v4
8	g.118110135C>A	CA371914774	EXT1	c.912G>T (p.Trp304Cys) c.280G>T c.73+839G>T (n.73+839G>T)	dbSNP
8	g.118110135C=	CA1814088394	EXT1	c.912G= (p.Trp304=) c.280G= c.73+839G= (n.73+839G=)
8	g.118110135C>G	CA371914775	EXT1	c.912G>C (p.Trp304Cys) c.280G>C c.73+839G>C (n.73+839G>C)
8	g.118110135C>T	CA371914776	EXT1	c.912G>A (p.Trp304Ter) c.280G>A c.73+839G>A (n.73+839G>A)	ClinVar dbSNP
8	g.118110136C>A	CA371914777	EXT1	c.911G>T (p.Trp304Leu) c.279G>T c.73+838G>T (n.73+838G>T)	dbSNP
8	g.118110136C>G	CA371914778	EXT1	c.911G>C (p.Trp304Ser) c.279G>C c.73+838G>C (n.73+838G>C)
8	g.118110136C>T	CA371914779	EXT1	c.911G>A (p.Trp304Ter) c.279G>A c.73+838G>A (n.73+838G>A)
8	g.118110137A=	CA1814088396	EXT1	c.910T= (p.Trp304=) c.278T= c.73+837T= (n.73+837T=)
8	g.118110137A>C	CA371914780	EXT1	c.910T>G (p.Trp304Gly) c.278T>G c.73+837T>G (n.73+837T>G)	dbSNP gnomAD v2 gnomAD v4
8	g.118110137A>G	CA371914781	EXT1	c.910T>C (p.Trp304Arg) c.278T>C c.73+837T>C (n.73+837T>C)
8	g.118110137A>T	CA371914782	EXT1	c.910T>A (p.Trp304Arg) c.278T>A c.73+837T>A (n.73+837T>A)	ClinVar dbSNP

Number of alleles fetched