Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153866601G>ACA2824280627L1CAMc.2431+48C>T (n.2431+48C>T)
c.2416+48C>T (n.2416+48C>T)
Xg.153866601G>TCA2695067814L1CAMc.2431+48C>A (n.2431+48C>A)
c.2416+48C>A (n.2416+48C>A)
 gnomAD v4
Xg.153866604G>ACA2695067815L1CAMc.2431+45C>T (n.2431+45C>T)
c.2416+45C>T (n.2416+45C>T)
 gnomAD v4
Xg.153866604G>TCA2579732732L1CAMc.2431+45C>A (n.2431+45C>A)
c.2416+45C>A (n.2416+45C>A)
 gnomAD v4
Xg.153866606A>GCA2579732733L1CAMc.2431+43T>C (n.2431+43T>C)
c.2416+43T>C (n.2416+43T>C)
Xg.153866608G>ACA2579732734L1CAMc.2431+41C>T (n.2431+41C>T)
c.2416+41C>T (n.2416+41C>T)
Xg.153866609C>ACA2824280628L1CAMc.2431+40G>T (n.2431+40G>T)
c.2416+40G>T (n.2416+40G>T)
Xg.153866609C=CA2466505895L1CAMc.2431+40G= (n.2431+40G=)
c.2416+40G= (n.2416+40G=)
Xg.153866609C>TCA10554173L1CAMc.2431+40G>A (n.2431+40G>A)
c.2416+40G>A (n.2416+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866610G>ACA10554174L1CAMc.2431+39C>T (n.2431+39C>T)
c.2416+39C>T (n.2416+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866610G>CCA2695067816L1CAMc.2431+39C>G (n.2431+39C>G)
c.2416+39C>G (n.2416+39C>G)
 gnomAD v4
Xg.153866610G=CA2466505897L1CAMc.2431+39C= (n.2431+39C=)
c.2416+39C= (n.2416+39C=)
Xg.153866612G>ACA10554175L1CAMc.2431+37C>T (n.2431+37C>T)
c.2416+37C>T (n.2416+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866612G=CA2466505898L1CAMc.2431+37C= (n.2431+37C=)
c.2416+37C= (n.2416+37C=)
Xg.153866612G>TCA2579732735L1CAMc.2431+37C>A (n.2431+37C>A)
c.2416+37C>A (n.2416+37C>A)
Xg.153866613C>ACA10554176L1CAMc.2431+36G>T (n.2431+36G>T)
c.2416+36G>T (n.2416+36G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153866613C=CA2466505899L1CAMc.2431+36G= (n.2431+36G=)
c.2416+36G= (n.2416+36G=)
Xg.153866615C>TCA2695067817L1CAMc.2431+34G>A (n.2431+34G>A)
c.2416+34G>A (n.2416+34G>A)
 gnomAD v4
Xg.153866617A=CA2466505901L1CAMc.2431+32T= (n.2431+32T=)
c.2416+32T= (n.2416+32T=)
Xg.153866617A>GCA2466505902L1CAMc.2431+32T>C (n.2431+32T>C)
c.2416+32T>C (n.2416+32T>C)
 dbSNP
Xg.153866618C=CA2466505903L1CAMc.2431+31G= (n.2431+31G=)
c.2416+31G= (n.2416+31G=)
Xg.153866618C>TCA2466505904L1CAMc.2431+31G>A (n.2431+31G>A)
c.2416+31G>A (n.2416+31G>A)
 dbSNP gnomAD v4
Xg.153866619C>ACA2695067818L1CAMc.2431+30G>T (n.2431+30G>T)
c.2416+30G>T (n.2416+30G>T)
 gnomAD v4
Xg.153866619C=CA2466505906L1CAMc.2431+30G= (n.2431+30G=)
c.2416+30G= (n.2416+30G=)
Xg.153866619C>GCA10554177L1CAMc.2431+30G>C (n.2431+30G>C)
c.2416+30G>C (n.2416+30G>C)
 dbSNP ExAC
Xg.153866619C>TCA645151610L1CAMc.2431+30G>A (n.2431+30G>A)
c.2416+30G>A (n.2416+30G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866620G>ACA10554178L1CAMc.2431+29C>T (n.2431+29C>T)
c.2416+29C>T (n.2416+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866620G=CA2466505907L1CAMc.2431+29C= (n.2431+29C=)
c.2416+29C= (n.2416+29C=)
Xg.153866620G>TCA2695067819L1CAMc.2431+29C>A (n.2431+29C>A)
c.2416+29C>A (n.2416+29C>A)
 gnomAD v4
Xg.153866622G>ACA2579732736L1CAMc.2431+27C>T (n.2431+27C>T)
c.2416+27C>T (n.2416+27C>T)
 gnomAD v4
Xg.153866622G>TCA2579732737L1CAMc.2431+27C>A (n.2431+27C>A)
c.2416+27C>A (n.2416+27C>A)
 gnomAD v4
Xg.153866623G>ACA10554179L1CAMc.2431+26C>T (n.2431+26C>T)
c.2416+26C>T (n.2416+26C>T)
 dbSNP ExAC gnomAD v4
Xg.153866623G=CA2466505909L1CAMc.2431+26C= (n.2431+26C=)
c.2416+26C= (n.2416+26C=)
Xg.153866624G>TCA2695067820L1CAMc.2431+25C>A (n.2431+25C>A)
c.2416+25C>A (n.2416+25C>A)
 gnomAD v4
Xg.153866625C=CA2466505911L1CAMc.2431+24G= (n.2431+24G=)
c.2416+24G= (n.2416+24G=)
Xg.153866625C>TCA645151612L1CAMc.2431+24G>A (n.2431+24G>A)
c.2416+24G>A (n.2416+24G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866626G>ACA645151615L1CAMc.2431+23C>T (n.2431+23C>T)
c.2416+23C>T (n.2416+23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866626G=CA2466505913L1CAMc.2431+23C= (n.2431+23C=)
c.2416+23C= (n.2416+23C=)
Xg.153866626G>TCA2579732738L1CAMc.2431+23C>A (n.2431+23C>A)
c.2416+23C>A (n.2416+23C>A)
 gnomAD v4
Xg.153866627delCA2695067821L1CAMc.2431+22del (n.2431+22del)
c.2416+22del (n.2416+22del)
 gnomAD v4
Xg.153866628G>ACA2579732739L1CAMc.2431+21C>T (n.2431+21C>T)
c.2416+21C>T (n.2416+21C>T)
Xg.153866629G>ACA2739273895L1CAMc.2431+20C>T (n.2431+20C>T)
c.2416+20C>T (n.2416+20C>T)
 ClinVar
Xg.153866629G>TCA2695067822L1CAMc.2431+20C>A (n.2431+20C>A)
c.2416+20C>A (n.2416+20C>A)
 gnomAD v4
Xg.153866630G>TCA2695067823L1CAMc.2431+19C>A (n.2431+19C>A)
c.2416+19C>A (n.2416+19C>A)
 gnomAD v4
Xg.153866631G>ACA2695067824L1CAMc.2431+18C>T (n.2431+18C>T)
c.2416+18C>T (n.2416+18C>T)
 gnomAD v4
Xg.153866631G>TCA2695067825L1CAMc.2431+18C>A (n.2431+18C>A)
c.2416+18C>A (n.2416+18C>A)
 gnomAD v4
Xg.153866632C>ACA2695067826L1CAMc.2431+17G>T (n.2431+17G>T)
c.2416+17G>T (n.2416+17G>T)
 gnomAD v4
Xg.153866632C>TCA2695067827L1CAMc.2431+17G>A (n.2431+17G>A)
c.2416+17G>A (n.2416+17G>A)
 gnomAD v4
Xg.153866634delCA2579732740L1CAMc.2431+17del (n.2431+17del)
c.2416+17del (n.2416+17del)
Xg.153866633C=CA2466505915L1CAMc.2431+16G= (n.2431+16G=)
c.2416+16G= (n.2416+16G=)
Xg.153866633C>GCA645151618L1CAMc.2431+16G>C (n.2431+16G>C)
c.2416+16G>C (n.2416+16G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866634C>TCA2695067828L1CAMc.2431+15G>A (n.2431+15G>A)
c.2416+15G>A (n.2416+15G>A)
 gnomAD v4
Xg.153866636G>TCA2579732741L1CAMc.2431+13C>A (n.2431+13C>A)
c.2416+13C>A (n.2416+13C>A)
 gnomAD v4
Xg.153866637C>TCA2741806112L1CAMc.2431+12G>A (n.2431+12G>A)
c.2416+12G>A (n.2416+12G>A)
Xg.153866638delCA2695067829L1CAMc.2431+12del (n.2431+12del)
c.2416+12del (n.2416+12del)
 gnomAD v4
Xg.153866638C=CA2466505916L1CAMc.2431+11G= (n.2431+11G=)
c.2416+11G= (n.2416+11G=)
Xg.153866638C>GCA645151619L1CAMc.2431+11G>C (n.2431+11G>C)
c.2416+11G>C (n.2416+11G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866638C>TCA10554180L1CAMc.2431+11G>A (n.2431+11G>A)
c.2416+11G>A (n.2416+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866639G>ACA10554181L1CAMc.2431+10C>T (n.2431+10C>T)
c.2416+10C>T (n.2416+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866639G>CCA2695067830L1CAMc.2431+10C>G (n.2431+10C>G)
c.2416+10C>G (n.2416+10C>G)
 gnomAD v4
Xg.153866639G=CA2466505918L1CAMc.2431+10C= (n.2431+10C=)
c.2416+10C= (n.2416+10C=)
Xg.153866639G>TCA645151624L1CAMc.2431+10C>A (n.2431+10C>A)
c.2416+10C>A (n.2416+10C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866640G>ACA2466505920L1CAMc.2431+9C>T (n.2431+9C>T)
c.2416+9C>T (n.2416+9C>T)
 dbSNP
Xg.153866640G=CA2466505919L1CAMc.2431+9C= (n.2431+9C=)
c.2416+9C= (n.2416+9C=)
Xg.153866640G>TCA2695067831L1CAMc.2431+9C>A (n.2431+9C>A)
c.2416+9C>A (n.2416+9C>A)
 gnomAD v4
Xg.153866641A=CA2466505921L1CAMc.2431+8T= (n.2431+8T=)
c.2416+8T= (n.2416+8T=)
Xg.153866641A>GCA645151626L1CAMc.2431+8T>C (n.2431+8T>C)
c.2416+8T>C (n.2416+8T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866644C=CA2466505923L1CAMc.2431+5G= (n.2431+5G=)
c.2416+5G= (n.2416+5G=)
Xg.153866644C>TCA645372694L1CAMc.2431+5G>A (n.2431+5G>A)
c.2416+5G>A (n.2416+5G>A)
 ClinVar dbSNP
Xg.153866648_153866649delCA2695238568L1CAMc.2431+2_2431+3del
c.2416+2_2416+3del
Xg.153866647A>CCA415118042L1CAMc.2431+2T>G (n.2431+2T>G)
c.2416+2T>G (n.2416+2T>G)
Xg.153866647A>GCA415118043L1CAMc.2431+2T>C (n.2431+2T>C)
c.2416+2T>C (n.2416+2T>C)
Xg.153866647A>TCA415118044L1CAMc.2431+2T>A (n.2431+2T>A)
c.2416+2T>A (n.2416+2T>A)
Xg.153866648C>ACA415118045L1CAMc.2431+1G>T (n.2431+1G>T)
c.2416+1G>T (n.2416+1G>T)
Xg.153866648C>GCA415118047L1CAMc.2431+1G>C (n.2431+1G>C)
c.2416+1G>C (n.2416+1G>C)
Xg.153866648C>TCA415118050L1CAMc.2431+1G>A (n.2431+1G>A)
c.2416+1G>A (n.2416+1G>A)
Xg.153866649A>CCA415118061L1CAMc.2431T>G (p.Tyr811Asp)
c.2416T>G (p.Tyr806Asp)
Xg.153866649A>GCA415118058L1CAMc.2431T>C (p.Tyr811His)
c.2416T>C (p.Tyr806His)
Xg.153866649A>TCA415118054L1CAMc.2431T>A (p.Tyr811Asn)
c.2416T>A (p.Tyr806Asn)
Xg.153866649_153866650delCA2695238569L1CAMc.2430_2431del (p.Asp810GlufsTer7)
c.2415_2416del (p.Asp805GlufsTer7)
Xg.153866650G>ACA519203512L1CAMc.2430C>T (p.Asp810=)
c.2415C>T (p.Asp805=)
Xg.153866650G>CCA415118062L1CAMc.2430C>G (p.Asp810Glu)
c.2415C>G (p.Asp805Glu)
Xg.153866650G>TCA415118063L1CAMc.2430C>A (p.Asp810Glu)
c.2415C>A (p.Asp805Glu)
Xg.153866651T>ACA415118066L1CAMc.2429A>T (p.Asp810Val)
c.2414A>T (p.Asp805Val)
Xg.153866651T>CCA415118068L1CAMc.2429A>G (p.Asp810Gly)
c.2414A>G (p.Asp805Gly)
Xg.153866651T>GCA415118071L1CAMc.2429A>C (p.Asp810Ala)
c.2414A>C (p.Asp805Ala)
Xg.153866652C>ACA415118077L1CAMc.2428G>T (p.Asp810Tyr)
c.2413G>T (p.Asp805Tyr)
Xg.153866652C>GCA415118079L1CAMc.2428G>C (p.Asp810His)
c.2413G>C (p.Asp805His)
Xg.153866652C>TCA415118083L1CAMc.2428G>A (p.Asp810Asn)
c.2413G>A (p.Asp805Asn)
Xg.153866653C>ACA415118085L1CAMc.2427G>T (p.Glu809Asp)
c.2412G>T (p.Glu804Asp)
Xg.153866653C=CA2466505926L1CAMc.2427G= (p.Glu809=)
c.2412G= (p.Glu804=)
Xg.153866653C>GCA415118088L1CAMc.2427G>C (p.Glu809Asp)
c.2412G>C (p.Glu804Asp)
Xg.153866653C>TCA519203523L1CAMc.2427G>A (p.Glu809=)
c.2412G>A (p.Glu804=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153866654T>ACA415118092L1CAMc.2426A>T (p.Glu809Val)
c.2411A>T (p.Glu804Val)
Xg.153866654T>CCA415118095L1CAMc.2426A>G (p.Glu809Gly)
c.2411A>G (p.Glu804Gly)
 gnomAD v4
Xg.153866654T>GCA415118099L1CAMc.2426A>C (p.Glu809Ala)
c.2411A>C (p.Glu804Ala)
Xg.153866655C>ACA415118116L1CAMc.2425G>T (p.Glu809Ter)
c.2410G>T (p.Glu804Ter)
Xg.153866655C>GCA415118109L1CAMc.2425G>C (p.Glu809Gln)
c.2410G>C (p.Glu804Gln)
Xg.153866655C>TCA415118112L1CAMc.2425G>A (p.Glu809Lys)
c.2410G>A (p.Glu804Lys)
Xg.153866656T>ACA519203533L1CAMc.2424A>T (p.Gly808=)
c.2409A>T (p.Gly803=)
Xg.153866656T>CCA519203535L1CAMc.2424A>G (p.Gly808=)
c.2409A>G (p.Gly803=)
Xg.153866656T>GCA519203537L1CAMc.2424A>C (p.Gly808=)
c.2409A>C (p.Gly803=)
Xg.153866657C>ACA415118119L1CAMc.2423G>T (p.Gly808Val)
c.2408G>T (p.Gly803Val)
Xg.153866657C=CA2466505928L1CAMc.2423G= (p.Gly808=)
c.2408G= (p.Gly803=)
Xg.153866657C>GCA415118121L1CAMc.2423G>C (p.Gly808Ala)
c.2408G>C (p.Gly803Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866657C>TCA415118124L1CAMc.2423G>A (p.Gly808Glu)
c.2408G>A (p.Gly803Glu)
Xg.153866657_153866659delinsCCACA2466505927L1CAMc.2421_2423delinsTGG (p.Ser807=)
c.2406_2408delinsTGG (p.Ser802=)
Xg.153866658C>ACA415118128L1CAMc.2422G>T (p.Gly808Ter)
c.2407G>T (p.Gly803Ter)
Xg.153866658C>GCA415118131L1CAMc.2422G>C (p.Gly808Arg)
c.2407G>C (p.Gly803Arg)
Xg.153866658C>TCA415118132L1CAMc.2422G>A (p.Gly808Arg)
c.2407G>A (p.Gly803Arg)
Xg.153866658_153866659delCA10575512L1CAMc.2421_2422del (p.Gly808ArgfsTer9)
c.2406_2407del (p.Gly803ArgfsTer9)
 ClinVar dbSNP
Xg.153866659A>CCA519203545L1CAMc.2421T>G (p.Ser807=)
c.2406T>G (p.Ser802=)
Xg.153866659A>GCA519203547L1CAMc.2421T>C (p.Ser807=)
c.2406T>C (p.Ser802=)
Xg.153866659A>TCA519203549L1CAMc.2421T>A (p.Ser807=)
c.2406T>A (p.Ser802=)
Xg.153866660G>ACA415118145L1CAMc.2420C>T (p.Ser807Phe)
c.2405C>T (p.Ser802Phe)
Xg.153866660G>CCA415118147L1CAMc.2420C>G (p.Ser807Cys)
c.2405C>G (p.Ser802Cys)
Xg.153866660G>TCA415118149L1CAMc.2420C>A (p.Ser807Tyr)
c.2405C>A (p.Ser802Tyr)
Xg.153866661A=CA2466505932L1CAMc.2419T= (p.Ser807=)
c.2404T= (p.Ser802=)
Xg.153866661A>CCA415118156L1CAMc.2419T>G (p.Ser807Ala)
c.2404T>G (p.Ser802Ala)
Xg.153866661A>GCA415118155L1CAMc.2419T>C (p.Ser807Pro)
c.2404T>C (p.Ser802Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153866661A>TCA415118151L1CAMc.2419T>A (p.Ser807Thr)
c.2404T>A (p.Ser802Thr)
Xg.153866662G>ACA519203557L1CAMc.2418C>T (p.Tyr806=)
c.2403C>T (p.Tyr801=)
Xg.153866662G>CCA415118159L1CAMc.2418C>G (p.Tyr806Ter)
c.2403C>G (p.Tyr801Ter)
Xg.153866662G>TCA415118160L1CAMc.2418C>A (p.Tyr806Ter)
c.2403C>A (p.Tyr801Ter)
Xg.153866663delCA2579732742L1CAMc.2417del (p.Tyr806SerfsTer?)
c.2402del (p.Tyr801SerfsTer?)
Xg.153866663T>ACA415118163L1CAMc.2417A>T (p.Tyr806Phe)
c.2402A>T (p.Tyr801Phe)
Xg.153866663T>CCA415118165L1CAMc.2417A>G (p.Tyr806Cys)
c.2402A>G (p.Tyr801Cys)
Xg.153866663T>GCA415118166L1CAMc.2417A>C (p.Tyr806Ser)
c.2402A>C (p.Tyr801Ser)
Xg.153866664A=CA2466505933L1CAMc.2416T= (p.Tyr806=)
c.2401T= (p.Tyr801=)
Xg.153866664A>CCA415118170L1CAMc.2416T>G (p.Tyr806Asp)
c.2401T>G (p.Tyr801Asp)
Xg.153866664A>GCA415118172L1CAMc.2416T>C (p.Tyr806His)
c.2401T>C (p.Tyr801His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153866664A>TCA415118175L1CAMc.2416T>A (p.Tyr806Asn)
c.2401T>A (p.Tyr801Asn)
Xg.153866665G>ACA519203565L1CAMc.2415C>T (p.Gly805=)
c.2400C>T (p.Gly800=)
Xg.153866665G>CCA519203567L1CAMc.2415C>G (p.Gly805=)
c.2400C>G (p.Gly800=)
Xg.153866665G>TCA519203569L1CAMc.2415C>A (p.Gly805=)
c.2400C>A (p.Gly800=)
Xg.153866666C>ACA415118178L1CAMc.2414G>T (p.Gly805Val)
c.2399G>T (p.Gly800Val)
 COSMIC
Xg.153866666C>GCA415118181L1CAMc.2414G>C (p.Gly805Ala)
c.2399G>C (p.Gly800Ala)
Xg.153866666C>TCA415118184L1CAMc.2414G>A (p.Gly805Asp)
c.2399G>A (p.Gly800Asp)
 ClinVar
Xg.153866667C>ACA415118199L1CAMc.2413G>T (p.Gly805Cys)
c.2398G>T (p.Gly800Cys)
Xg.153866667C>GCA415118197L1CAMc.2413G>C (p.Gly805Arg)
c.2398G>C (p.Gly800Arg)
 ClinVar dbSNP
Xg.153866667C>TCA415118191L1CAMc.2413G>A (p.Gly805Ser)
c.2398G>A (p.Gly800Ser)
 COSMIC
Xg.153866668G>ACA10554182L1CAMc.2412C>T (p.Ile804=)
c.2397C>T (p.Ile799=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153866668G>CCA415118205L1CAMc.2412C>G (p.Ile804Met)
c.2397C>G (p.Ile799Met)
Xg.153866668G=CA2466505935L1CAMc.2412C= (p.Ile804=)
c.2397C= (p.Ile799=)
Xg.153866668G>TCA519203582L1CAMc.2412C>A (p.Ile804=)
c.2397C>A (p.Ile799=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866669A>CCA415118211L1CAMc.2411T>G (p.Ile804Ser)
c.2396T>G (p.Ile799Ser)
Xg.153866669A>GCA415118213L1CAMc.2411T>C (p.Ile804Thr)
c.2396T>C (p.Ile799Thr)
Xg.153866669A>TCA415118217L1CAMc.2411T>A (p.Ile804Asn)
c.2396T>A (p.Ile799Asn)
Xg.153866670T>ACA415118219L1CAMc.2410A>T (p.Ile804Phe)
c.2395A>T (p.Ile799Phe)
Xg.153866670T>CCA10554183L1CAMc.2410A>G (p.Ile804Val)
c.2395A>G (p.Ile799Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153866670T>GCA415118223L1CAMc.2410A>C (p.Ile804Leu)
c.2395A>C (p.Ile799Leu)
Xg.153866670T=CA2466505937L1CAMc.2410A= (p.Ile804=)
c.2395A= (p.Ile799=)
Xg.153866670dupCA2695238570L1CAMc.2410dup (p.Ile804AsnfsTer14)
c.2395dup (p.Ile799AsnfsTer14)
Xg.153866671A>CCA519203594L1CAMc.2409T>G (p.Thr803=)
c.2394T>G (p.Thr798=)
Xg.153866671A>GCA519203596L1CAMc.2409T>C (p.Thr803=)
c.2394T>C (p.Thr798=)
Xg.153866671A>TCA519203598L1CAMc.2409T>A (p.Thr803=)
c.2394T>A (p.Thr798=)
Xg.153866672G>ACA415118230L1CAMc.2408C>T (p.Thr803Ile)
c.2393C>T (p.Thr798Ile)
Xg.153866672G>CCA415118231L1CAMc.2408C>G (p.Thr803Ser)
c.2393C>G (p.Thr798Ser)
Xg.153866672G>TCA415118232L1CAMc.2408C>A (p.Thr803Asn)
c.2393C>A (p.Thr798Asn)
Xg.153866673T>ACA415118241L1CAMc.2407A>T (p.Thr803Ser)
c.2392A>T (p.Thr798Ser)
Xg.153866673T>CCA10554184L1CAMc.2407A>G (p.Thr803Ala)
c.2392A>G (p.Thr798Ala)
 dbSNP ExAC gnomAD v4
Xg.153866673T>GCA415118236L1CAMc.2407A>C (p.Thr803Pro)
c.2392A>C (p.Thr798Pro)
Xg.153866673T=CA2466505939L1CAMc.2407A= (p.Thr803=)
c.2392A= (p.Thr798=)
Xg.153866674G>ACA519203603L1CAMc.2406C>T (p.Val802=)
c.2391C>T (p.Val797=)
Xg.153866674G>CCA519203605L1CAMc.2406C>G (p.Val802=)
c.2391C>G (p.Val797=)
Xg.153866674G>TCA519203607L1CAMc.2406C>A (p.Val802=)
c.2391C>A (p.Val797=)
 gnomAD v4
Xg.153866675A>CCA415118244L1CAMc.2405T>G (p.Val802Gly)
c.2390T>G (p.Val797Gly)
Xg.153866675A>GCA415118249L1CAMc.2405T>C (p.Val802Ala)
c.2390T>C (p.Val797Ala)
Xg.153866675A>TCA415118247L1CAMc.2405T>A (p.Val802Asp)
c.2390T>A (p.Val797Asp)
Xg.153866676C>ACA415118253L1CAMc.2404G>T (p.Val802Phe)
c.2389G>T (p.Val797Phe)
Xg.153866676C>GCA415118258L1CAMc.2404G>C (p.Val802Leu)
c.2389G>C (p.Val797Leu)
Xg.153866676C>TCA415118255L1CAMc.2404G>A (p.Val802Ile)
c.2389G>A (p.Val797Ile)
Xg.153866677C>ACA415118261L1CAMc.2403G>T (p.Gln801His)
c.2388G>T (p.Gln796His)
Xg.153866677C>GCA415118265L1CAMc.2403G>C (p.Gln801His)
c.2388G>C (p.Gln796His)
Xg.153866677C>TCA519203615L1CAMc.2403G>A (p.Gln801=)
c.2388G>A (p.Gln796=)
Xg.153866678T>ACA415118269L1CAMc.2402A>T (p.Gln801Leu)
c.2387A>T (p.Gln796Leu)
Xg.153866678T>CCA415118271L1CAMc.2402A>G (p.Gln801Arg)
c.2387A>G (p.Gln796Arg)
 ClinVar gnomAD v4
Xg.153866678T>GCA415118274L1CAMc.2402A>C (p.Gln801Pro)
c.2387A>C (p.Gln796Pro)
Xg.153866679G>ACA415118278L1CAMc.2401C>T (p.Gln801Ter)
c.2386C>T (p.Gln796Ter)
Xg.153866679G>CCA337260922L1CAMc.2401C>G (p.Gln801Glu)
c.2386C>G (p.Gln796Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153866679G=CA2466505942L1CAMc.2401C= (p.Gln801=)
c.2386C= (p.Gln796=)
Xg.153866679G>TCA415118282L1CAMc.2401C>A (p.Gln801Lys)
c.2386C>A (p.Gln796Lys)
Xg.153866682delCA2579732743L1CAMc.2401del (p.Gln801ArgfsTer?)
c.2386del (p.Gln796ArgfsTer?)
Xg.153866681_153866682delCA2579732744L1CAMc.2400_2401del (p.Gln801GlyfsTer16)
c.2385_2386del (p.Gln796GlyfsTer16)
Xg.153866680G>ACA519203631L1CAMc.2400C>T (p.Pro800=)
c.2385C>T (p.Pro795=)
Xg.153866680G>CCA519203632L1CAMc.2400C>G (p.Pro800=)
c.2385C>G (p.Pro795=)
Xg.153866680G>TCA519203634L1CAMc.2400C>A (p.Pro800=)
c.2385C>A (p.Pro795=)
Xg.153866681G>ACA415118287L1CAMc.2399C>T (p.Pro800Leu)
c.2384C>T (p.Pro795Leu)
Xg.153866681G>CCA415118289L1CAMc.2399C>G (p.Pro800Arg)
c.2384C>G (p.Pro795Arg)
Xg.153866681G>TCA415118292L1CAMc.2399C>A (p.Pro800His)
c.2384C>A (p.Pro795His)
 ClinVar dbSNP
Xg.153866682G>ACA415118296L1CAMc.2398C>T (p.Pro800Ser)
c.2383C>T (p.Pro795Ser)
Xg.153866682G>CCA415118299L1CAMc.2398C>G (p.Pro800Ala)
c.2383C>G (p.Pro795Ala)
Xg.153866682G>TCA415118297L1CAMc.2398C>A (p.Pro800Thr)
c.2383C>A (p.Pro795Thr)
Xg.153866683C>ACA415118301L1CAMc.2397G>T (p.Glu799Asp)
c.2382G>T (p.Glu794Asp)
Xg.153866683C>GCA415118303L1CAMc.2397G>C (p.Glu799Asp)
c.2382G>C (p.Glu794Asp)
Xg.153866683C>TCA519203648L1CAMc.2397G>A (p.Glu799=)
c.2382G>A (p.Glu794=)
Xg.153866684T>ACA415118306L1CAMc.2396A>T (p.Glu799Val)
c.2381A>T (p.Glu794Val)
Xg.153866684T>CCA415118317L1CAMc.2396A>G (p.Glu799Gly)
c.2381A>G (p.Glu794Gly)
Xg.153866684T>GCA415118320L1CAMc.2396A>C (p.Glu799Ala)
c.2381A>C (p.Glu794Ala)
Xg.153866685C>ACA415118323L1CAMc.2395G>T (p.Glu799Ter)
c.2380G>T (p.Glu794Ter)
Xg.153866685C=CA2466505943L1CAMc.2395G= (p.Glu799=)
c.2380G= (p.Glu794=)
Xg.153866685C>GCA415118326L1CAMc.2395G>C (p.Glu799Gln)
c.2380G>C (p.Glu794Gln)
Xg.153866685C>TCA415118328L1CAMc.2395G>A (p.Glu799Lys)
c.2380G>A (p.Glu794Lys)
 dbSNP
Xg.153866686T>ACA519203659L1CAMc.2394A>T (p.Pro798=)
c.2379A>T (p.Pro793=)
Xg.153866686T>CCA519203662L1CAMc.2394A>G (p.Pro798=)
c.2379A>G (p.Pro793=)
Xg.153866686T>GCA519203664L1CAMc.2394A>C (p.Pro798=)
c.2379A>C (p.Pro793=)
Xg.153866687G>ACA415118341L1CAMc.2393C>T (p.Pro798Leu)
c.2378C>T (p.Pro793Leu)
Xg.153866687G>CCA415118343L1CAMc.2393C>G (p.Pro798Arg)
c.2378C>G (p.Pro793Arg)
Xg.153866687G>TCA415118331L1CAMc.2393C>A (p.Pro798Gln)
c.2378C>A (p.Pro793Gln)
Xg.153866688G>ACA415118348L1CAMc.2392C>T (p.Pro798Ser)
c.2377C>T (p.Pro793Ser)
Xg.153866688G>CCA415118350L1CAMc.2392C>G (p.Pro798Ala)
c.2377C>G (p.Pro793Ala)
Xg.153866688G>TCA415118353L1CAMc.2392C>A (p.Pro798Thr)
c.2377C>A (p.Pro793Thr)
Xg.153866688_153866689insAGAGGACTGTGAGTACA2512368769L1CAMc.2391_2392insTACTCACAGTCCTCT (p.Gly797_Pro798insTyrSerGlnSerSer)
c.2376_2377insTACTCACAGTCCTCT (p.Gly792_Pro793insTyrSerGlnSerSer)
Xg.153866689T>ACA519203675L1CAMc.2391A>T (p.Gly797=)
c.2376A>T (p.Gly792=)
Xg.153866689T>CCA519203678L1CAMc.2391A>G (p.Gly797=)
c.2376A>G (p.Gly792=)
Xg.153866689T>GCA519203680L1CAMc.2391A>C (p.Gly797=)
c.2376A>C (p.Gly792=)
Xg.153866690C>ACA415118357L1CAMc.2390G>T (p.Gly797Val)
c.2375G>T (p.Gly792Val)
Xg.153866690C>GCA415118360L1CAMc.2390G>C (p.Gly797Ala)
c.2375G>C (p.Gly792Ala)
Xg.153866690C>TCA415118363L1CAMc.2390G>A (p.Gly797Glu)
c.2375G>A (p.Gly792Glu)
Xg.153866691C>ACA415118366L1CAMc.2389G>T (p.Gly797Ter)
c.2374G>T (p.Gly792Ter)
Xg.153866691C>GCA415118367L1CAMc.2389G>C (p.Gly797Arg)
c.2374G>C (p.Gly792Arg)
Xg.153866691C>TCA415118369L1CAMc.2389G>A (p.Gly797Arg)
c.2374G>A (p.Gly792Arg)
 ClinVar COSMIC COSMIC
Xg.153866692C>ACA415118371L1CAMc.2388G>T (p.Lys796Asn)
c.2373G>T (p.Lys791Asn)
Xg.153866692C>GCA415118373L1CAMc.2388G>C (p.Lys796Asn)
c.2373G>C (p.Lys791Asn)
Xg.153866692C>TCA519203694L1CAMc.2388G>A (p.Lys796=)
c.2373G>A (p.Lys791=)
 gnomAD v4
Xg.153866693T>ACA415118383L1CAMc.2387A>T (p.Lys796Met)
c.2372A>T (p.Lys791Met)
Xg.153866693T>CCA415118377L1CAMc.2387A>G (p.Lys796Arg)
c.2372A>G (p.Lys791Arg)
Xg.153866693T>GCA415118380L1CAMc.2387A>C (p.Lys796Thr)
c.2372A>C (p.Lys791Thr)
Xg.153866694delCA2524477527L1CAMc.2387del (p.Lys796ArgfsTer?)
c.2372del (p.Lys791ArgfsTer?)
Xg.153866694T>ACA415118386L1CAMc.2386A>T (p.Lys796Ter)
c.2371A>T (p.Lys791Ter)
Xg.153866694T>CCA415118387L1CAMc.2386A>G (p.Lys796Glu)
c.2371A>G (p.Lys791Glu)
Xg.153866694T>GCA415118390L1CAMc.2386A>C (p.Lys796Gln)
c.2371A>C (p.Lys791Gln)
Xg.153866695G>ACA519203703L1CAMc.2385C>T (p.Gly795=)
c.2370C>T (p.Gly790=)
 dbSNP gnomAD v2 gnomAD v4
Xg.153866695G>CCA519203705L1CAMc.2385C>G (p.Gly795=)
c.2370C>G (p.Gly790=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153866695G=CA2466505945L1CAMc.2385C= (p.Gly795=)
c.2370C= (p.Gly790=)
Xg.153866695G>TCA519203707L1CAMc.2385C>A (p.Gly795=)
c.2370C>A (p.Gly790=)
Xg.153866696C>ACA415118393L1CAMc.2384G>T (p.Gly795Val)
c.2369G>T (p.Gly790Val)
Xg.153866696C>GCA415118395L1CAMc.2384G>C (p.Gly795Ala)
c.2369G>C (p.Gly790Ala)
Xg.153866696C>TCA415118398L1CAMc.2384G>A (p.Gly795Asp)
c.2369G>A (p.Gly790Asp)
Xg.153866697C>ACA415118400L1CAMc.2383G>T (p.Gly795Cys)
c.2368G>T (p.Gly790Cys)
Xg.153866697C>GCA415118401L1CAMc.2383G>C (p.Gly795Arg)
c.2368G>C (p.Gly790Arg)
Xg.153866697C>TCA415118404L1CAMc.2383G>A (p.Gly795Ser)
c.2368G>A (p.Gly790Ser)
Xg.153866698C>ACA415118407L1CAMc.2382G>T (p.Gln794His)
c.2367G>T (p.Gln789His)
Xg.153866698C=CA2466505947L1CAMc.2382G= (p.Gln794=)
c.2367G= (p.Gln789=)
Xg.153866698C>GCA415118408L1CAMc.2382G>C (p.Gln794His)
c.2367G>C (p.Gln789His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153866698C>TCA519203718L1CAMc.2382G>A (p.Gln794=)
c.2367G>A (p.Gln789=)
Xg.153866699T>ACA415118415L1CAMc.2381A>T (p.Gln794Leu)
c.2366A>T (p.Gln789Leu)
Xg.153866699T>CCA415118413L1CAMc.2381A>G (p.Gln794Arg)
c.2366A>G (p.Gln789Arg)
 ClinVar
Xg.153866699T>GCA415118411L1CAMc.2381A>C (p.Gln794Pro)
c.2366A>C (p.Gln789Pro)
Xg.153866700G>ACA10576254L1CAMc.2380C>T (p.Gln794Ter)
c.2365C>T (p.Gln789Ter)
 ClinVar dbSNP
Xg.153866700G>CCA415118420L1CAMc.2380C>G (p.Gln794Glu)
c.2365C>G (p.Gln789Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.153866700G=CA2466505950L1CAMc.2380C= (p.Gln794=)
c.2365C= (p.Gln789=)
Xg.153866700G>TCA415118418L1CAMc.2380C>A (p.Gln794Lys)
c.2365C>A (p.Gln789Lys)

Number of alleles fetched