Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151186344dupCA579077198ASB10c.584+50dup (n.584+50dup)
c.539+50dup (n.539+50dup)
c.719+50dup (n.719+50dup)
dbSNP gnomAD v2 gnomAD v4
7g.151186345delCA2685657458ASB10c.584+47del (n.584+47del)
c.539+47del (n.539+47del)
c.719+47del (n.719+47del)
gnomAD v4
7g.151186345G>TCA2685657459ASB10c.584+47C>A (n.584+47C>A)
c.539+47C>A (n.539+47C>A)
c.719+47C>A (n.719+47C>A)
gnomAD v4
7g.151186346C>ACA2685657460ASB10c.584+46G>T (n.584+46G>T)
c.539+46G>T (n.539+46G>T)
c.719+46G>T (n.719+46G>T)
gnomAD v4
7g.151186346C>GCA2685657461ASB10c.584+46G>C (n.584+46G>C)
c.539+46G>C (n.539+46G>C)
c.719+46G>C (n.719+46G>C)
gnomAD v4
7g.151186346C>TCA2685657462ASB10c.584+46G>A (n.584+46G>A)
c.539+46G>A (n.539+46G>A)
c.719+46G>A (n.719+46G>A)
gnomAD v4
7g.151186349C>ACA2685657463ASB10c.584+43G>T (n.584+43G>T)
c.539+43G>T (n.539+43G>T)
c.719+43G>T (n.719+43G>T)
gnomAD v4
7g.151186349C=CA1752544697ASB10c.584+43G= (n.584+43G=)
c.539+43G= (n.539+43G=)
c.719+43G= (n.719+43G=)
7g.151186349C>TCA169125071ASB10c.584+43G>A (n.584+43G>A)
c.539+43G>A (n.539+43G>A)
c.719+43G>A (n.719+43G>A)
dbSNP gnomAD v4
7g.151186350C>ACA2685657464ASB10c.584+42G>T (n.584+42G>T)
c.539+42G>T (n.539+42G>T)
c.719+42G>T (n.719+42G>T)
gnomAD v4
7g.151186350C=CA1752544700ASB10c.584+42G= (n.584+42G=)
c.539+42G= (n.539+42G=)
c.719+42G= (n.719+42G=)
7g.151186350C>GCA2685657465ASB10c.584+42G>C (n.584+42G>C)
c.539+42G>C (n.539+42G>C)
c.719+42G>C (n.719+42G>C)
gnomAD v4
7g.151186350C>TCA835245696ASB10c.584+42G>A (n.584+42G>A)
c.539+42G>A (n.539+42G>A)
c.719+42G>A (n.719+42G>A)
dbSNP gnomAD v4
7g.151186351C>ACA2685657466ASB10c.584+41G>T (n.584+41G>T)
c.539+41G>T (n.539+41G>T)
c.719+41G>T (n.719+41G>T)
gnomAD v4
7g.151186352T>ACA2685657468ASB10c.584+40A>T (n.584+40A>T)
c.539+40A>T (n.539+40A>T)
c.719+40A>T (n.719+40A>T)
gnomAD v4
7g.151186352T>CCA2685657469ASB10c.584+40A>G (n.584+40A>G)
c.539+40A>G (n.539+40A>G)
c.719+40A>G (n.719+40A>G)
gnomAD v4
7g.151186353delCA2685657467ASB10c.584+40del (n.584+40del)
c.539+40del (n.539+40del)
c.719+40del (n.719+40del)
gnomAD v4
7g.151186353T>CCA2685657470ASB10c.584+39A>G (n.584+39A>G)
c.539+39A>G (n.539+39A>G)
c.719+39A>G (n.719+39A>G)
gnomAD v4
7g.151186354C>ACA2685657471ASB10c.584+38G>T (n.584+38G>T)
c.539+38G>T (n.539+38G>T)
c.719+38G>T (n.719+38G>T)
gnomAD v4
7g.151186354C=CA1752544702ASB10c.584+38G= (n.584+38G=)
c.539+38G= (n.539+38G=)
c.719+38G= (n.719+38G=)
7g.151186354C>GCA1752544703ASB10c.584+38G>C (n.584+38G>C)
c.539+38G>C (n.539+38G>C)
c.719+38G>C (n.719+38G>C)
dbSNP gnomAD v4
7g.151186354C>TCA2685657472ASB10c.584+38G>A (n.584+38G>A)
c.539+38G>A (n.539+38G>A)
c.719+38G>A (n.719+38G>A)
gnomAD v4
7g.151186355A>TCA2685657473ASB10c.584+37T>A (n.584+37T>A)
c.539+37T>A (n.539+37T>A)
c.719+37T>A (n.719+37T>A)
gnomAD v4
7g.151186356G>CCA4573846ASB10c.584+36C>G (n.584+36C>G)
c.539+36C>G (n.539+36C>G)
c.719+36C>G (n.719+36C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186356G=CA1752544704ASB10c.584+36C= (n.584+36C=)
c.539+36C= (n.539+36C=)
c.719+36C= (n.719+36C=)
7g.151186356G>TCA2685657474ASB10c.584+36C>A (n.584+36C>A)
c.539+36C>A (n.539+36C>A)
c.719+36C>A (n.719+36C>A)
gnomAD v4
7g.151186357A>GCA2685657475ASB10c.584+35T>C (n.584+35T>C)
c.539+35T>C (n.539+35T>C)
c.719+35T>C (n.719+35T>C)
gnomAD v4
7g.151186358G>ACA2685657476ASB10c.584+34C>T (n.584+34C>T)
c.539+34C>T (n.539+34C>T)
c.719+34C>T (n.719+34C>T)
gnomAD v4
7g.151186358G>TCA2685657477ASB10c.584+34C>A (n.584+34C>A)
c.539+34C>A (n.539+34C>A)
c.719+34C>A (n.719+34C>A)
gnomAD v4
7g.151186359T>ACA2685657478ASB10c.584+33A>T (n.584+33A>T)
c.539+33A>T (n.539+33A>T)
c.719+33A>T (n.719+33A>T)
gnomAD v4
7g.151186359T>GCA579077199ASB10c.584+33A>C (n.584+33A>C)
c.539+33A>C (n.539+33A>C)
c.719+33A>C (n.719+33A>C)
dbSNP gnomAD v2 gnomAD v4
7g.151186359T=CA1752544706ASB10c.584+33A= (n.584+33A=)
c.539+33A= (n.539+33A=)
c.719+33A= (n.719+33A=)
7g.151186360G>ACA4573847ASB10c.584+32C>T (n.584+32C>T)
c.539+32C>T (n.539+32C>T)
c.719+32C>T (n.719+32C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186360G>CCA835245700ASB10c.584+32C>G (n.584+32C>G)
c.539+32C>G (n.539+32C>G)
c.719+32C>G (n.719+32C>G)
dbSNP gnomAD v4
7g.151186360G=CA1752544710ASB10c.584+32C= (n.584+32C=)
c.539+32C= (n.539+32C=)
c.719+32C= (n.719+32C=)
7g.151186360G>TCA2685657479ASB10c.584+32C>A (n.584+32C>A)
c.539+32C>A (n.539+32C>A)
c.719+32C>A (n.719+32C>A)
gnomAD v4
7g.151186361G>ACA2685657480ASB10c.584+31C>T (n.584+31C>T)
c.539+31C>T (n.539+31C>T)
c.719+31C>T (n.719+31C>T)
gnomAD v4
7g.151186361G>CCA2579066554ASB10c.584+31C>G (n.584+31C>G)
c.539+31C>G (n.539+31C>G)
c.719+31C>G (n.719+31C>G)
gnomAD v4
7g.151186361G>TCA2685657481ASB10c.584+31C>A (n.584+31C>A)
c.539+31C>A (n.539+31C>A)
c.719+31C>A (n.719+31C>A)
gnomAD v4
7g.151186362A>TCA2685657482ASB10c.584+30T>A (n.584+30T>A)
c.539+30T>A (n.539+30T>A)
c.719+30T>A (n.719+30T>A)
gnomAD v4
7g.151186363A>GCA2685657483ASB10c.584+29T>C (n.584+29T>C)
c.539+29T>C (n.539+29T>C)
c.719+29T>C (n.719+29T>C)
gnomAD v4
7g.151186364C>ACA2685657484ASB10c.584+28G>T (n.584+28G>T)
c.539+28G>T (n.539+28G>T)
c.719+28G>T (n.719+28G>T)
gnomAD v4
7g.151186364C>TCA2685657485ASB10c.584+28G>A (n.584+28G>A)
c.539+28G>A (n.539+28G>A)
c.719+28G>A (n.719+28G>A)
gnomAD v4
7g.151186365T>CCA2685657486ASB10c.584+27A>G (n.584+27A>G)
c.539+27A>G (n.539+27A>G)
c.719+27A>G (n.719+27A>G)
gnomAD v4
7g.151186366G>ACA835245701ASB10c.584+26C>T (n.584+26C>T)
c.539+26C>T (n.539+26C>T)
c.719+26C>T (n.719+26C>T)
dbSNP gnomAD v4
7g.151186366G=CA1752544713ASB10c.584+26C= (n.584+26C=)
c.539+26C= (n.539+26C=)
c.719+26C= (n.719+26C=)
7g.151186366G>TCA169125078ASB10c.584+26C>A (n.584+26C>A)
c.539+26C>A (n.539+26C>A)
c.719+26C>A (n.719+26C>A)
dbSNP gnomAD v3 gnomAD v4
7g.151186370delCA2685657487ASB10c.584+26del (n.584+26del)
c.539+26del (n.539+26del)
c.719+26del (n.719+26del)
gnomAD v4
7g.151186367G>ACA169125079ASB10c.584+25C>T (n.584+25C>T)
c.539+25C>T (n.539+25C>T)
c.719+25C>T (n.719+25C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186367G>CCA169125081ASB10c.584+25C>G (n.584+25C>G)
c.539+25C>G (n.539+25C>G)
c.719+25C>G (n.719+25C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186367G=CA1752544715ASB10c.584+25C= (n.584+25C=)
c.539+25C= (n.539+25C=)
c.719+25C= (n.719+25C=)
7g.151186367G>TCA2685657488ASB10c.584+25C>A (n.584+25C>A)
c.539+25C>A (n.539+25C>A)
c.719+25C>A (n.719+25C>A)
gnomAD v4
7g.151186368G>ACA2685657489ASB10c.584+24C>T (n.584+24C>T)
c.539+24C>T (n.539+24C>T)
c.719+24C>T (n.719+24C>T)
gnomAD v4
7g.151186368G>CCA169125093ASB10c.584+24C>G (n.584+24C>G)
c.539+24C>G (n.539+24C>G)
c.719+24C>G (n.719+24C>G)
dbSNP gnomAD v4
7g.151186368G=CA1752544718ASB10c.584+24C= (n.584+24C=)
c.539+24C= (n.539+24C=)
c.719+24C= (n.719+24C=)
7g.151186368G>TCA835245704ASB10c.584+24C>A (n.584+24C>A)
c.539+24C>A (n.539+24C>A)
c.719+24C>A (n.719+24C>A)
dbSNP gnomAD v4
7g.151186369G>ACA1108728888ASB10c.584+23C>T (n.584+23C>T)
c.539+23C>T (n.539+23C>T)
c.719+23C>T (n.719+23C>T)
dbSNP gnomAD v3 gnomAD v4
7g.151186369G=CA1752544720ASB10c.584+23C= (n.584+23C=)
c.539+23C= (n.539+23C=)
c.719+23C= (n.719+23C=)
7g.151186369G>TCA2685657490ASB10c.584+23C>A (n.584+23C>A)
c.539+23C>A (n.539+23C>A)
c.719+23C>A (n.719+23C>A)
gnomAD v4
7g.151186370G>ACA169125097ASB10c.584+22C>T (n.584+22C>T)
c.539+22C>T (n.539+22C>T)
c.719+22C>T (n.719+22C>T)
dbSNP gnomAD v2 gnomAD v4
7g.151186370G=CA1752544722ASB10c.584+22C= (n.584+22C=)
c.539+22C= (n.539+22C=)
c.719+22C= (n.719+22C=)
7g.151186370G>TCA2685657491ASB10c.584+22C>A (n.584+22C>A)
c.539+22C>A (n.539+22C>A)
c.719+22C>A (n.719+22C>A)
gnomAD v4
7g.151186370_151186371delinsGTCA1752544724ASB10c.584+21_584+22delinsAC (n.584+21_584+22delinsAC)
c.539+21_539+22delinsAC (n.539+21_539+22delinsAC)
c.719+21_719+22delinsAC (n.719+21_719+22delinsAC)
7g.151186371T>CCA2685657492ASB10c.584+21A>G (n.584+21A>G)
c.539+21A>G (n.539+21A>G)
c.719+21A>G (n.719+21A>G)
gnomAD v4
7g.151186372delCA835245708ASB10c.584+21del (n.584+21del)
c.539+21del (n.539+21del)
c.719+21del (n.719+21del)
dbSNP
7g.151186372T>ACA4573848ASB10c.584+20A>T (n.584+20A>T)
c.539+20A>T (n.539+20A>T)
c.719+20A>T (n.719+20A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186372T=CA1752544729ASB10c.584+20A= (n.584+20A=)
c.539+20A= (n.539+20A=)
c.719+20A= (n.719+20A=)
7g.151186372_151186374delinsTGGCA1752544727ASB10c.584+18_584+20delinsCCA (n.584+18_584+20delinsCCA)
c.539+18_539+20delinsCCA (n.539+18_539+20delinsCCA)
c.719+18_719+20delinsCCA (n.719+18_719+20delinsCCA)
7g.151186373G>ACA579077200ASB10c.584+19C>T (n.584+19C>T)
c.539+19C>T (n.539+19C>T)
c.719+19C>T (n.719+19C>T)
dbSNP gnomAD v2 gnomAD v4
7g.151186373G=CA1752544731ASB10c.584+19C= (n.584+19C=)
c.539+19C= (n.539+19C=)
c.719+19C= (n.719+19C=)
7g.151186373G>TCA169125125ASB10c.584+19C>A (n.584+19C>A)
c.539+19C>A (n.539+19C>A)
c.719+19C>A (n.719+19C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186375_151186376delCA1752544730ASB10c.584+18_584+19del (n.584+18_584+19del)
c.539+18_539+19del (n.539+18_539+19del)
c.719+18_719+19del (n.719+18_719+19del)
dbSNP
7g.151186374G>ACA2685657494ASB10c.584+18C>T (n.584+18C>T)
c.539+18C>T (n.539+18C>T)
c.719+18C>T (n.719+18C>T)
gnomAD v4
7g.151186374G>CCA579077201ASB10c.584+18C>G (n.584+18C>G)
c.539+18C>G (n.539+18C>G)
c.719+18C>G (n.719+18C>G)
dbSNP gnomAD v2 gnomAD v4
7g.151186374G=CA1752544734ASB10c.584+18C= (n.584+18C=)
c.539+18C= (n.539+18C=)
c.719+18C= (n.719+18C=)
7g.151186374G>TCA2685657493ASB10c.584+18C>A (n.584+18C>A)
c.539+18C>A (n.539+18C>A)
c.719+18C>A (n.719+18C>A)
gnomAD v4
7g.151186375G>ACA2685657496ASB10c.584+17C>T (n.584+17C>T)
c.539+17C>T (n.539+17C>T)
c.719+17C>T (n.719+17C>T)
gnomAD v4
7g.151186375G>CCA835245713ASB10c.584+17C>G (n.584+17C>G)
c.539+17C>G (n.539+17C>G)
c.719+17C>G (n.719+17C>G)
dbSNP gnomAD v3 gnomAD v4
7g.151186375G=CA1752544736ASB10c.584+17C= (n.584+17C=)
c.539+17C= (n.539+17C=)
c.719+17C= (n.719+17C=)
7g.151186375G>TCA2685657495ASB10c.584+17C>A (n.584+17C>A)
c.539+17C>A (n.539+17C>A)
c.719+17C>A (n.719+17C>A)
gnomAD v4
7g.151186376G>ACA2685657498ASB10c.584+16C>T (n.584+16C>T)
c.539+16C>T (n.539+16C>T)
c.719+16C>T (n.719+16C>T)
gnomAD v4
7g.151186376G>TCA2685657497ASB10c.584+16C>A (n.584+16C>A)
c.539+16C>A (n.539+16C>A)
c.719+16C>A (n.719+16C>A)
gnomAD v4
7g.151186377T>CCA2685657499ASB10c.584+15A>G (n.584+15A>G)
c.539+15A>G (n.539+15A>G)
c.719+15A>G (n.719+15A>G)
gnomAD v4
7g.151186378G>ACA2685657500ASB10c.584+14C>T (n.584+14C>T)
c.539+14C>T (n.539+14C>T)
c.719+14C>T (n.719+14C>T)
gnomAD v4
7g.151186378G>TCA2685657501ASB10c.584+14C>A (n.584+14C>A)
c.539+14C>A (n.539+14C>A)
c.719+14C>A (n.719+14C>A)
gnomAD v4
7g.151186379A>GCA2685657502ASB10c.584+13T>C (n.584+13T>C)
c.539+13T>C (n.539+13T>C)
c.719+13T>C (n.719+13T>C)
gnomAD v4
7g.151186379A>TCA2685657503ASB10c.584+13T>A (n.584+13T>A)
c.539+13T>A (n.539+13T>A)
c.719+13T>A (n.719+13T>A)
gnomAD v4
7g.151186380G>ACA4573849ASB10c.584+12C>T (n.584+12C>T)
c.539+12C>T (n.539+12C>T)
c.719+12C>T (n.719+12C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186380G=CA1752544739ASB10c.584+12C= (n.584+12C=)
c.539+12C= (n.539+12C=)
c.719+12C= (n.719+12C=)
7g.151186380G>TCA2571407606ASB10c.584+12C>A (n.584+12C>A)
c.539+12C>A (n.539+12C>A)
c.719+12C>A (n.719+12C>A)
gnomAD v4
7g.151186381G>ACA2685657504ASB10c.584+11C>T (n.584+11C>T)
c.539+11C>T (n.539+11C>T)
c.719+11C>T (n.719+11C>T)
gnomAD v4
7g.151186381G>TCA2685657505ASB10c.584+11C>A (n.584+11C>A)
c.539+11C>A (n.539+11C>A)
c.719+11C>A (n.719+11C>A)
gnomAD v4
7g.151186382G>ACA2685657506ASB10c.584+10C>T (n.584+10C>T)
c.539+10C>T (n.539+10C>T)
c.719+10C>T (n.719+10C>T)
gnomAD v4
7g.151186382G=CA1752544742ASB10c.584+10C= (n.584+10C=)
c.539+10C= (n.539+10C=)
c.719+10C= (n.719+10C=)
7g.151186382G>TCA579077202ASB10c.584+10C>A (n.584+10C>A)
c.539+10C>A (n.539+10C>A)
c.719+10C>A (n.719+10C>A)
dbSNP gnomAD v2 gnomAD v4
7g.151186383G>ACA4573850ASB10c.584+9C>T (n.584+9C>T)
c.539+9C>T (n.539+9C>T)
c.719+9C>T (n.719+9C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186383G=CA1752544746ASB10c.584+9C= (n.584+9C=)
c.539+9C= (n.539+9C=)
c.719+9C= (n.719+9C=)
7g.151186383G>TCA579077203ASB10c.584+9C>A (n.584+9C>A)
c.539+9C>A (n.539+9C>A)
c.719+9C>A (n.719+9C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186384T>CCA169125138ASB10c.584+8A>G (n.584+8A>G)
c.539+8A>G (n.539+8A>G)
c.719+8A>G (n.719+8A>G)
dbSNP gnomAD v4
7g.151186384T=CA1752544750ASB10c.584+8A= (n.584+8A=)
c.539+8A= (n.539+8A=)
c.719+8A= (n.719+8A=)
7g.151186385C>ACA579077204ASB10c.584+7G>T (n.584+7G>T)
c.539+7G>T (n.539+7G>T)
c.719+7G>T (n.719+7G>T)
dbSNP gnomAD v2 gnomAD v4
7g.151186385C=CA1752544752ASB10c.584+7G= (n.584+7G=)
c.539+7G= (n.539+7G=)
c.719+7G= (n.719+7G=)
7g.151186385C>TCA2685657507ASB10c.584+7G>A (n.584+7G>A)
c.539+7G>A (n.539+7G>A)
c.719+7G>A (n.719+7G>A)
gnomAD v4
7g.151186386A>GCA2685657508ASB10c.584+6T>C (n.584+6T>C)
c.539+6T>C (n.539+6T>C)
c.719+6T>C (n.719+6T>C)
gnomAD v4
7g.151186386A>TCA2685657509ASB10c.584+6T>A (n.584+6T>A)
c.539+6T>A (n.539+6T>A)
c.719+6T>A (n.719+6T>A)
gnomAD v4
7g.151186387C>ACA2685657510ASB10c.584+5G>T (n.584+5G>T)
c.539+5G>T (n.539+5G>T)
c.719+5G>T (n.719+5G>T)
gnomAD v4
7g.151186387C=CA1752544755ASB10c.584+5G= (n.584+5G=)
c.539+5G= (n.539+5G=)
c.719+5G= (n.719+5G=)
7g.151186387C>GCA2685657511ASB10c.584+5G>C (n.584+5G>C)
c.539+5G>C (n.539+5G>C)
c.719+5G>C (n.719+5G>C)
gnomAD v4
7g.151186387C>TCA4573851ASB10c.584+5G>A (n.584+5G>A)
c.539+5G>A (n.539+5G>A)
c.719+5G>A (n.719+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186388T>ACA169125141ASB10c.584+4A>T (n.584+4A>T)
c.539+4A>T (n.539+4A>T)
c.719+4A>T (n.719+4A>T)
dbSNP gnomAD v4
7g.151186388T=CA1752544758ASB10c.584+4A= (n.584+4A=)
c.539+4A= (n.539+4A=)
c.719+4A= (n.719+4A=)
7g.151186389C>ACA2685657512ASB10c.584+3G>T (n.584+3G>T)
c.539+3G>T (n.539+3G>T)
c.719+3G>T (n.719+3G>T)
gnomAD v4
7g.151186389C>TCA2685657513ASB10c.584+3G>A (n.584+3G>A)
c.539+3G>A (n.539+3G>A)
c.719+3G>A (n.719+3G>A)
gnomAD v4
7g.151186390A>CCA370035612ASB10c.584+2T>G (n.584+2T>G)
c.539+2T>G (n.539+2T>G)
c.719+2T>G (n.719+2T>G)
gnomAD v4
7g.151186390A>GCA370035614ASB10c.584+2T>C (n.584+2T>C)
c.539+2T>C (n.539+2T>C)
c.719+2T>C (n.719+2T>C)
7g.151186390A>TCA370035611ASB10c.584+2T>A (n.584+2T>A)
c.539+2T>A (n.539+2T>A)
c.719+2T>A (n.719+2T>A)
gnomAD v4
7g.151186391C>ACA370035617ASB10c.584+1G>T (n.584+1G>T)
c.539+1G>T (n.539+1G>T)
c.719+1G>T (n.719+1G>T)
gnomAD v4
7g.151186391C=CA1752544760ASB10c.584+1G= (n.584+1G=)
c.539+1G= (n.539+1G=)
c.719+1G= (n.719+1G=)
7g.151186391C>GCA370035618ASB10c.584+1G>C (n.584+1G>C)
c.539+1G>C (n.539+1G>C)
c.719+1G>C (n.719+1G>C)
gnomAD v4
7g.151186391C>TCA370035620ASB10c.584+1G>A (n.584+1G>A)
c.539+1G>A (n.539+1G>A)
c.719+1G>A (n.719+1G>A)
dbSNP gnomAD v2 gnomAD v4
7g.151186392T>ACA370035622ASB10c.584A>T (p.Glu195Val)
c.539A>T (p.Glu180Val)
c.719A>T (p.Glu240Val)
gnomAD v4
7g.151186392T>CCA370035624ASB10c.584A>G (p.Glu195Gly)
c.539A>G (p.Glu180Gly)
c.719A>G (p.Glu240Gly)
7g.151186392T>GCA370035626ASB10c.584A>C (p.Glu195Ala)
c.539A>C (p.Glu180Ala)
c.719A>C (p.Glu240Ala)
7g.151186393C>ACA370035632ASB10c.583G>T (p.Glu195Ter)
c.538G>T (p.Glu180Ter)
c.718G>T (p.Glu240Ter)
gnomAD v4
7g.151186393C>GCA370035628ASB10c.583G>C (p.Glu195Gln)
c.538G>C (p.Glu180Gln)
c.718G>C (p.Glu240Gln)
7g.151186393C>TCA370035630ASB10c.583G>A (p.Glu195Lys)
c.538G>A (p.Glu180Lys)
c.718G>A (p.Glu240Lys)
gnomAD v4
7g.151186394A>CCA458881268ASB10c.582T>G (p.Leu194=)
c.537T>G (p.Leu179=)
c.717T>G (p.Leu239=)
7g.151186394A>GCA458881269ASB10c.582T>C (p.Leu194=)
c.537T>C (p.Leu179=)
c.717T>C (p.Leu239=)
7g.151186394A>TCA458881271ASB10c.582T>A (p.Leu194=)
c.537T>A (p.Leu179=)
c.717T>A (p.Leu239=)
7g.151186395A>CCA370035635ASB10c.581T>G (p.Leu194Arg)
c.536T>G (p.Leu179Arg)
c.716T>G (p.Leu239Arg)
7g.151186395A>GCA370035636ASB10c.581T>C (p.Leu194Pro)
c.536T>C (p.Leu179Pro)
c.716T>C (p.Leu239Pro)
gnomAD v4
7g.151186395A>TCA370035638ASB10c.581T>A (p.Leu194His)
c.536T>A (p.Leu179His)
c.716T>A (p.Leu239His)
gnomAD v4
7g.151186396G>ACA370035640ASB10c.580C>T (p.Leu194Phe)
c.535C>T (p.Leu179Phe)
c.715C>T (p.Leu239Phe)
7g.151186396G>CCA370035642ASB10c.580C>G (p.Leu194Val)
c.535C>G (p.Leu179Val)
c.715C>G (p.Leu239Val)
7g.151186396G>TCA370035643ASB10c.580C>A (p.Leu194Ile)
c.535C>A (p.Leu179Ile)
c.715C>A (p.Leu239Ile)
gnomAD v4
7g.151186397G>ACA458881276ASB10c.579C>T (p.Thr193=)
c.534C>T (p.Thr178=)
c.714C>T (p.Thr238=)
gnomAD v4
7g.151186397G>CCA458881278ASB10c.579C>G (p.Thr193=)
c.534C>G (p.Thr178=)
c.714C>G (p.Thr238=)
7g.151186397G>TCA458881279ASB10c.579C>A (p.Thr193=)
c.534C>A (p.Thr178=)
c.714C>A (p.Thr238=)
gnomAD v4
7g.151186398G>ACA4573852ASB10c.578C>T (p.Thr193Ile)
c.533C>T (p.Thr178Ile)
c.713C>T (p.Thr238Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186398G>CCA370035647ASB10c.578C>G (p.Thr193Ser)
c.533C>G (p.Thr178Ser)
c.713C>G (p.Thr238Ser)
gnomAD v4
7g.151186398G=CA1752544762ASB10c.578C= (p.Thr193=)
c.533C= (p.Thr178=)
c.713C= (p.Thr238=)
7g.151186398G>TCA370035646ASB10c.578C>A (p.Thr193Asn)
c.533C>A (p.Thr178Asn)
c.713C>A (p.Thr238Asn)
7g.151186399T>ACA370035649ASB10c.577A>T (p.Thr193Ser)
c.532A>T (p.Thr178Ser)
c.712A>T (p.Thr238Ser)
7g.151186399T>CCA370035651ASB10c.577A>G (p.Thr193Ala)
c.532A>G (p.Thr178Ala)
c.712A>G (p.Thr238Ala)
7g.151186399T>GCA370035653ASB10c.577A>C (p.Thr193Pro)
c.532A>C (p.Thr178Pro)
c.712A>C (p.Thr238Pro)
7g.151186400G>ACA458881283ASB10c.576C>T (p.Gly192=)
c.531C>T (p.Gly177=)
c.711C>T (p.Gly237=)
gnomAD v4
7g.151186400G>CCA458881286ASB10c.576C>G (p.Gly192=)
c.531C>G (p.Gly177=)
c.711C>G (p.Gly237=)
7g.151186400G>TCA458881285ASB10c.576C>A (p.Gly192=)
c.531C>A (p.Gly177=)
c.711C>A (p.Gly237=)
gnomAD v4
7g.151186401C>ACA370035655ASB10c.575G>T (p.Gly192Val)
c.530G>T (p.Gly177Val)
c.710G>T (p.Gly237Val)
gnomAD v4
7g.151186401C=CA1752544764ASB10c.575G= (p.Gly192=)
c.530G= (p.Gly177=)
c.710G= (p.Gly237=)
7g.151186401C>GCA370035657ASB10c.575G>C (p.Gly192Ala)
c.530G>C (p.Gly177Ala)
c.710G>C (p.Gly237Ala)
7g.151186401C>TCA370035659ASB10c.575G>A (p.Gly192Asp)
c.530G>A (p.Gly177Asp)
c.710G>A (p.Gly237Asp)
dbSNP gnomAD v3 gnomAD v4
7g.151186402C>ACA370035660ASB10c.574G>T (p.Gly192Cys)
c.529G>T (p.Gly177Cys)
c.709G>T (p.Gly237Cys)
gnomAD v4
7g.151186402C=CA1752544768ASB10c.574G= (p.Gly192=)
c.529G= (p.Gly177=)
c.709G= (p.Gly237=)
7g.151186402C>GCA370035662ASB10c.574G>C (p.Gly192Arg)
c.529G>C (p.Gly177Arg)
c.709G>C (p.Gly237Arg)
7g.151186402C>TCA370035664ASB10c.574G>A (p.Gly192Ser)
c.529G>A (p.Gly177Ser)
c.709G>A (p.Gly237Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.151186403A>CCA458881291ASB10c.573T>G (p.Pro191=)
c.528T>G (p.Pro176=)
c.708T>G (p.Pro236=)
7g.151186403A>GCA458881292ASB10c.573T>C (p.Pro191=)
c.528T>C (p.Pro176=)
c.708T>C (p.Pro236=)
gnomAD v4
7g.151186403A>TCA458881293ASB10c.573T>A (p.Pro191=)
c.528T>A (p.Pro176=)
c.708T>A (p.Pro236=)
7g.151186404G>ACA370035666ASB10c.572C>T (p.Pro191Leu)
c.527C>T (p.Pro176Leu)
c.707C>T (p.Pro236Leu)
dbSNP
7g.151186404G>CCA370035667ASB10c.572C>G (p.Pro191Arg)
c.527C>G (p.Pro176Arg)
c.707C>G (p.Pro236Arg)
7g.151186404G=CA1752544772ASB10c.572C= (p.Pro191=)
c.527C= (p.Pro176=)
c.707C= (p.Pro236=)
7g.151186404G>TCA370035669ASB10c.572C>A (p.Pro191His)
c.527C>A (p.Pro176His)
c.707C>A (p.Pro236His)
gnomAD v4
7g.151186405G>ACA370035671ASB10c.571C>T (p.Pro191Ser)
c.526C>T (p.Pro176Ser)
c.706C>T (p.Pro236Ser)
gnomAD v4
7g.151186405G>CCA370035674ASB10c.571C>G (p.Pro191Ala)
c.526C>G (p.Pro176Ala)
c.706C>G (p.Pro236Ala)
gnomAD v4
7g.151186405G=CA1752544775ASB10c.571C= (p.Pro191=)
c.526C= (p.Pro176=)
c.706C= (p.Pro236=)
7g.151186405G>TCA4573853ASB10c.571C>A (p.Pro191Thr)
c.526C>A (p.Pro176Thr)
c.706C>A (p.Pro236Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186405_151186406delinsGCCA1752544778ASB10c.570_571delinsGC (p.Gly190=)
c.525_526delinsGC (p.Gly175=)
c.705_706delinsGC (p.Gly235=)
7g.151186406C>ACA458881300ASB10c.570G>T (p.Gly190=)
c.525G>T (p.Gly175=)
c.705G>T (p.Gly235=)
gnomAD v4
7g.151186406C>GCA458881301ASB10c.570G>C (p.Gly190=)
c.525G>C (p.Gly175=)
c.705G>C (p.Gly235=)
7g.151186406C>TCA458881302ASB10c.570G>A (p.Gly190=)
c.525G>A (p.Gly175=)
c.705G>A (p.Gly235=)
gnomAD v4
7g.151186410dupCA2778433433ASB10c.570dup (p.Pro191AlafsTer5)
c.525dup (p.Pro176AlafsTer5)
c.705dup (p.Pro236AlafsTer5)
7g.151186410delCA4573854ASB10c.570del (p.Pro191LeufsTer?)
c.525del (p.Pro176LeufsTer?)
c.705del (p.Pro236LeufsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186407C>ACA370035676ASB10c.569G>T (p.Gly190Val)
c.524G>T (p.Gly175Val)
c.704G>T (p.Gly235Val)
7g.151186407C>GCA370035678ASB10c.569G>C (p.Gly190Ala)
c.524G>C (p.Gly175Ala)
c.704G>C (p.Gly235Ala)
7g.151186407C>TCA370035679ASB10c.569G>A (p.Gly190Glu)
c.524G>A (p.Gly175Glu)
c.704G>A (p.Gly235Glu)
gnomAD v4
7g.151186408C>ACA370035680ASB10c.568G>T (p.Gly190Trp)
c.523G>T (p.Gly175Trp)
c.703G>T (p.Gly235Trp)
gnomAD v4
7g.151186408C=CA1752544783ASB10c.568G= (p.Gly190=)
c.523G= (p.Gly175=)
c.703G= (p.Gly235=)
7g.151186408C>GCA370035682ASB10c.568G>C (p.Gly190Arg)
c.523G>C (p.Gly175Arg)
c.703G>C (p.Gly235Arg)
7g.151186408C>TCA4573855ASB10c.568G>A (p.Gly190Arg)
c.523G>A (p.Gly175Arg)
c.703G>A (p.Gly235Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
7g.151186409C>ACA458881311ASB10c.567G>T (p.Arg189=)
c.522G>T (p.Arg174=)
c.702G>T (p.Arg234=)
gnomAD v4
7g.151186409C=CA1752544786ASB10c.567G= (p.Arg189=)
c.522G= (p.Arg174=)
c.702G= (p.Arg234=)
7g.151186409C>GCA458881312ASB10c.567G>C (p.Arg189=)
c.522G>C (p.Arg174=)
c.702G>C (p.Arg234=)
7g.151186409C>TCA458881310ASB10c.567G>A (p.Arg189=)
c.522G>A (p.Arg174=)
c.702G>A (p.Arg234=)
dbSNP gnomAD v2 gnomAD v4
7g.151186410C>ACA370035685ASB10c.566G>T (p.Arg189Leu)
c.521G>T (p.Arg174Leu)
c.701G>T (p.Arg234Leu)
gnomAD v4
7g.151186410C=CA1752544789ASB10c.566G= (p.Arg189=)
c.521G= (p.Arg174=)
c.701G= (p.Arg234=)
7g.151186410C>GCA370035687ASB10c.566G>C (p.Arg189Pro)
c.521G>C (p.Arg174Pro)
c.701G>C (p.Arg234Pro)
gnomAD v4
7g.151186410C>TCA169125146ASB10c.566G>A (p.Arg189Gln)
c.521G>A (p.Arg174Gln)
c.701G>A (p.Arg234Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186411G>ACA150496ASB10c.565C>T (p.Arg189Trp)
c.520C>T (p.Arg174Trp)
c.700C>T (p.Arg234Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.151186411G>CCA370035690ASB10c.565C>G (p.Arg189Gly)
c.520C>G (p.Arg174Gly)
c.700C>G (p.Arg234Gly)
gnomAD v4
7g.151186411G=CA1752544796ASB10c.565C= (p.Arg189=)
c.520C= (p.Arg174=)
c.700C= (p.Arg234=)
7g.151186411G>TCA458881319ASB10c.565C>A (p.Arg189=)
c.520C>A (p.Arg174=)
c.700C>A (p.Arg234=)
gnomAD v4
7g.151186412G>ACA458881322ASB10c.564C>T (p.Cys188=)
c.519C>T (p.Cys173=)
c.699C>T (p.Cys233=)
gnomAD v4
7g.151186412G>CCA370035692ASB10c.564C>G (p.Cys188Trp)
c.519C>G (p.Cys173Trp)
c.699C>G (p.Cys233Trp)
7g.151186412G=CA1752544801ASB10c.564C= (p.Cys188=)
c.519C= (p.Cys173=)
c.699C= (p.Cys233=)
7g.151186412G>TCA143897ASB10c.564C>A (p.Cys188Ter)
c.519C>A (p.Cys173Ter)
c.699C>A (p.Cys233Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.151186413C>ACA4573856ASB10c.563G>T (p.Cys188Phe)
c.518G>T (p.Cys173Phe)
c.698G>T (p.Cys233Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186413C=CA1752544807ASB10c.563G= (p.Cys188=)
c.518G= (p.Cys173=)
c.698G= (p.Cys233=)
7g.151186413C>GCA370035698ASB10c.563G>C (p.Cys188Ser)
c.518G>C (p.Cys173Ser)
c.698G>C (p.Cys233Ser)
gnomAD v4
7g.151186413C>TCA370035696ASB10c.563G>A (p.Cys188Tyr)
c.518G>A (p.Cys173Tyr)
c.698G>A (p.Cys233Tyr)
gnomAD v4
7g.151186414A>CCA370035699ASB10c.562T>G (p.Cys188Gly)
c.517T>G (p.Cys173Gly)
c.697T>G (p.Cys233Gly)
7g.151186414A>GCA370035701ASB10c.562T>C (p.Cys188Arg)
c.517T>C (p.Cys173Arg)
c.697T>C (p.Cys233Arg)
7g.151186414A>TCA370035703ASB10c.562T>A (p.Cys188Ser)
c.517T>A (p.Cys173Ser)
c.697T>A (p.Cys233Ser)
7g.151186415G>ACA458881329ASB10c.561C>T (p.Leu187=)
c.516C>T (p.Leu172=)
c.696C>T (p.Leu232=)
dbSNP
7g.151186415G>CCA458881331ASB10c.561C>G (p.Leu187=)
c.516C>G (p.Leu172=)
c.696C>G (p.Leu232=)
7g.151186415G>TCA458881330ASB10c.561C>A (p.Leu187=)
c.516C>A (p.Leu172=)
c.696C>A (p.Leu232=)
gnomAD v4
7g.151186416A=CA1752544813ASB10c.560T= (p.Leu187=)
c.515T= (p.Leu172=)
c.695T= (p.Leu232=)
7g.151186416A>CCA370035705ASB10c.560T>G (p.Leu187Arg)
c.515T>G (p.Leu172Arg)
c.695T>G (p.Leu232Arg)
7g.151186416A>GCA370035706ASB10c.560T>C (p.Leu187Pro)
c.515T>C (p.Leu172Pro)
c.695T>C (p.Leu232Pro)
dbSNP gnomAD v2 gnomAD v4
7g.151186416A>TCA370035708ASB10c.560T>A (p.Leu187His)
c.515T>A (p.Leu172His)
c.695T>A (p.Leu232His)
7g.151186417G>ACA370035710ASB10c.559C>T (p.Leu187Phe)
c.514C>T (p.Leu172Phe)
c.694C>T (p.Leu232Phe)
gnomAD v4
7g.151186417G>CCA370035712ASB10c.559C>G (p.Leu187Val)
c.514C>G (p.Leu172Val)
c.694C>G (p.Leu232Val)
7g.151186417G>TCA370035713ASB10c.559C>A (p.Leu187Ile)
c.514C>A (p.Leu172Ile)
c.694C>A (p.Leu232Ile)
gnomAD v4
7g.151186418A=CA1752544816ASB10c.558T= (p.His186=)
c.513T= (p.His171=)
c.693T= (p.His231=)
7g.151186418A>CCA370035715ASB10c.558T>G (p.His186Gln)
c.513T>G (p.His171Gln)
c.693T>G (p.His231Gln)
7g.151186418A>GCA458881463ASB10c.558T>C (p.His186=)
c.513T>C (p.His171=)
c.693T>C (p.His231=)
dbSNP gnomAD v2 gnomAD v4
7g.151186418A>TCA370035717ASB10c.558T>A (p.His186Gln)
c.513T>A (p.His171Gln)
c.693T>A (p.His231Gln)
gnomAD v4
7g.151186419T>ACA370035722ASB10c.557A>T (p.His186Leu)
c.512A>T (p.His171Leu)
c.692A>T (p.His231Leu)
7g.151186419T>CCA4573857ASB10c.557A>G (p.His186Arg)
c.512A>G (p.His171Arg)
c.692A>G (p.His231Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186419T>GCA370035719ASB10c.557A>C (p.His186Pro)
c.512A>C (p.His171Pro)
c.692A>C (p.His231Pro)
gnomAD v4
7g.151186419T=CA1752544818ASB10c.557A= (p.His186=)
c.512A= (p.His171=)
c.692A= (p.His231=)
7g.151186420G>ACA370035724ASB10c.556C>T (p.His186Tyr)
c.511C>T (p.His171Tyr)
c.691C>T (p.His231Tyr)
7g.151186420G>CCA370035728ASB10c.556C>G (p.His186Asp)
c.511C>G (p.His171Asp)
c.691C>G (p.His231Asp)
7g.151186420G=CA1752544820ASB10c.556C= (p.His186=)
c.511C= (p.His171=)
c.691C= (p.His231=)
7g.151186420G>TCA370035726ASB10c.556C>A (p.His186Asn)
c.511C>A (p.His171Asn)
c.691C>A (p.His231Asn)
dbSNP gnomAD v2 gnomAD v4
7g.151186421C>ACA458881466ASB10c.555G>T (p.Leu185=)
c.510G>T (p.Leu170=)
c.690G>T (p.Leu230=)
gnomAD v4
7g.151186421C>GCA458881467ASB10c.555G>C (p.Leu185=)
c.510G>C (p.Leu170=)
c.690G>C (p.Leu230=)
7g.151186421C>TCA458881468ASB10c.555G>A (p.Leu185=)
c.510G>A (p.Leu170=)
c.690G>A (p.Leu230=)
gnomAD v4
7g.151186422A=CA1752544823ASB10c.554T= (p.Leu185=)
c.509T= (p.Leu170=)
c.689T= (p.Leu230=)
7g.151186422A>CCA370035730ASB10c.554T>G (p.Leu185Arg)
c.509T>G (p.Leu170Arg)
c.689T>G (p.Leu230Arg)
7g.151186422A>GCA4573858ASB10c.554T>C (p.Leu185Pro)
c.509T>C (p.Leu170Pro)
c.689T>C (p.Leu230Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151186422A>TCA370035731ASB10c.554T>A (p.Leu185Gln)
c.509T>A (p.Leu170Gln)
c.689T>A (p.Leu230Gln)
gnomAD v4
7g.151186423G>ACA458881469ASB10c.553C>T (p.Leu185=)
c.508C>T (p.Leu170=)
c.688C>T (p.Leu230=)
7g.151186423G>CCA370035734ASB10c.553C>G (p.Leu185Val)
c.508C>G (p.Leu170Val)
c.688C>G (p.Leu230Val)
7g.151186423G>TCA370035735ASB10c.553C>A (p.Leu185Met)
c.508C>A (p.Leu170Met)
c.688C>A (p.Leu230Met)
7g.151186427dupCA2685657514ASB10c.553dup (p.Leu185ProfsTer11)
c.508dup (p.Leu170ProfsTer11)
c.688dup (p.Leu230ProfsTer11)
gnomAD v4
7g.151186427delCA2685657515ASB10c.553del (p.Leu185CysfsTer?)
c.508del (p.Leu170CysfsTer?)
c.688del (p.Leu230CysfsTer?)
gnomAD v4
7g.151186424G>ACA458881470ASB10c.552C>T (p.Pro184=)
c.507C>T (p.Pro169=)
c.687C>T (p.Pro229=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186424G>CCA458881471ASB10c.552C>G (p.Pro184=)
c.507C>G (p.Pro169=)
c.687C>G (p.Pro229=)
7g.151186424G=CA1752544826ASB10c.552C= (p.Pro184=)
c.507C= (p.Pro169=)
c.687C= (p.Pro229=)
7g.151186424G>TCA458881472ASB10c.552C>A (p.Pro184=)
c.507C>A (p.Pro169=)
c.687C>A (p.Pro229=)
7g.151186425G>ACA370035738ASB10c.551C>T (p.Pro184Leu)
c.506C>T (p.Pro169Leu)
c.686C>T (p.Pro229Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186425G>CCA169125157ASB10c.551C>G (p.Pro184Arg)
c.506C>G (p.Pro169Arg)
c.686C>G (p.Pro229Arg)
dbSNP
7g.151186425G=CA1752544830ASB10c.551C= (p.Pro184=)
c.506C= (p.Pro169=)
c.686C= (p.Pro229=)
7g.151186425G>TCA370035739ASB10c.551C>A (p.Pro184His)
c.506C>A (p.Pro169His)
c.686C>A (p.Pro229His)
gnomAD v4
7g.151186426G>ACA370035741ASB10c.550C>T (p.Pro184Ser)
c.505C>T (p.Pro169Ser)
c.685C>T (p.Pro229Ser)
7g.151186426G>CCA370035743ASB10c.550C>G (p.Pro184Ala)
c.505C>G (p.Pro169Ala)
c.685C>G (p.Pro229Ala)
7g.151186426G>TCA370035744ASB10c.550C>A (p.Pro184Thr)
c.505C>A (p.Pro169Thr)
c.685C>A (p.Pro229Thr)
7g.151186427G>ACA169125158ASB10c.549C>T (p.Arg183=)
c.504C>T (p.Arg168=)
c.684C>T (p.Arg228=)
dbSNP gnomAD v4
7g.151186427G>CCA458881476ASB10c.549C>G (p.Arg183=)
c.504C>G (p.Arg168=)
c.684C>G (p.Arg228=)
7g.151186427G=CA1752544832ASB10c.549C= (p.Arg183=)
c.504C= (p.Arg168=)
c.684C= (p.Arg228=)
7g.151186427G>TCA458881477ASB10c.549C>A (p.Arg183=)
c.504C>A (p.Arg168=)
c.684C>A (p.Arg228=)
gnomAD v4
7g.151186428C>ACA370035746ASB10c.548G>T (p.Arg183Leu)
c.503G>T (p.Arg168Leu)
c.683G>T (p.Arg228Leu)
gnomAD v4
7g.151186428C=CA1752544834ASB10c.548G= (p.Arg183=)
c.503G= (p.Arg168=)
c.683G= (p.Arg228=)
7g.151186428C>GCA370035748ASB10c.548G>C (p.Arg183Pro)
c.503G>C (p.Arg168Pro)
c.683G>C (p.Arg228Pro)
gnomAD v4
7g.151186428C>TCA370035750ASB10c.548G>A (p.Arg183His)
c.503G>A (p.Arg168His)
c.683G>A (p.Arg228His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186429G>ACA150543ASB10c.547C>T (p.Arg183Cys)
c.502C>T (p.Arg168Cys)
c.682C>T (p.Arg228Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151186429G>CCA370035753ASB10c.547C>G (p.Arg183Gly)
c.502C>G (p.Arg168Gly)
c.682C>G (p.Arg228Gly)
7g.151186429G=CA1752544836ASB10c.547C= (p.Arg183=)
c.502C= (p.Arg168=)
c.682C= (p.Arg228=)
7g.151186429G>TCA370035755ASB10c.547C>A (p.Arg183Ser)
c.502C>A (p.Arg168Ser)
c.682C>A (p.Arg228Ser)
gnomAD v4
7g.151186430T>ACA370035757ASB10c.546A>T (p.Lys182Asn)
c.501A>T (p.Lys167Asn)
c.681A>T (p.Lys227Asn)
ClinVar
7g.151186430T>CCA458881481ASB10c.546A>G (p.Lys182=)
c.501A>G (p.Lys167=)
c.681A>G (p.Lys227=)
dbSNP gnomAD v3 gnomAD v4
7g.151186430T>GCA370035758ASB10c.546A>C (p.Lys182Asn)
c.501A>C (p.Lys167Asn)
c.681A>C (p.Lys227Asn)
7g.151186430T=CA1752544842ASB10c.546A= (p.Lys182=)
c.501A= (p.Lys167=)
c.681A= (p.Lys227=)
7g.151186432delCA2685657516ASB10c.546del (p.Lys182AsnfsTer?)
c.501del (p.Lys167AsnfsTer?)
c.681del (p.Lys227AsnfsTer?)
gnomAD v4
7g.151186431T>ACA370035764ASB10c.545A>T (p.Lys182Ile)
c.500A>T (p.Lys167Ile)
c.680A>T (p.Lys227Ile)
7g.151186431T>CCA370035762ASB10c.545A>G (p.Lys182Arg)
c.500A>G (p.Lys167Arg)
c.680A>G (p.Lys227Arg)
gnomAD v4
7g.151186431T>GCA370035761ASB10c.545A>C (p.Lys182Thr)
c.500A>C (p.Lys167Thr)
c.680A>C (p.Lys227Thr)
7g.151186432T>ACA370035766ASB10c.544A>T (p.Lys182Ter)
c.499A>T (p.Lys167Ter)
c.679A>T (p.Lys227Ter)
dbSNP gnomAD v2 gnomAD v4
7g.151186432T>CCA370035767ASB10c.544A>G (p.Lys182Glu)
c.499A>G (p.Lys167Glu)
c.679A>G (p.Lys227Glu)
gnomAD v4
7g.151186432T>GCA370035769ASB10c.544A>C (p.Lys182Gln)
c.499A>C (p.Lys167Gln)
c.679A>C (p.Lys227Gln)
7g.151186432T=CA1752544846ASB10c.544A= (p.Lys182=)
c.499A= (p.Lys167=)
c.679A= (p.Lys227=)
7g.151186433C>ACA458881485ASB10c.543G>T (p.Gly181=)
c.498G>T (p.Gly166=)
c.678G>T (p.Gly226=)
gnomAD v4
7g.151186433C=CA1752544847ASB10c.543G= (p.Gly181=)
c.498G= (p.Gly166=)
c.678G= (p.Gly226=)
7g.151186433C>GCA458881486ASB10c.543G>C (p.Gly181=)
c.498G>C (p.Gly166=)
c.678G>C (p.Gly226=)
7g.151186433C>TCA458881487ASB10c.543G>A (p.Gly181=)
c.498G>A (p.Gly166=)
c.678G>A (p.Gly226=)
dbSNP gnomAD v4
7g.151186434C>ACA370035770ASB10c.542G>T (p.Gly181Val)
c.497G>T (p.Gly166Val)
c.677G>T (p.Gly226Val)
gnomAD v4
7g.151186434C=CA1752544850ASB10c.542G= (p.Gly181=)
c.497G= (p.Gly166=)
c.677G= (p.Gly226=)
7g.151186434C>GCA370035771ASB10c.542G>C (p.Gly181Ala)
c.497G>C (p.Gly166Ala)
c.677G>C (p.Gly226Ala)
dbSNP
7g.151186434C>TCA370035773ASB10c.542G>A (p.Gly181Glu)
c.497G>A (p.Gly166Glu)
c.677G>A (p.Gly226Glu)
7g.151186435C>ACA370035775ASB10c.541G>T (p.Gly181Trp)
c.496G>T (p.Gly166Trp)
c.676G>T (p.Gly226Trp)
gnomAD v4
7g.151186435C=CA1752544853ASB10c.541G= (p.Gly181=)
c.496G= (p.Gly166=)
c.676G= (p.Gly226=)
7g.151186435C>GCA370035777ASB10c.541G>C (p.Gly181Arg)
c.496G>C (p.Gly166Arg)
c.676G>C (p.Gly226Arg)
7g.151186435C>TCA169125160ASB10c.541G>A (p.Gly181Arg)
c.496G>A (p.Gly166Arg)
c.676G>A (p.Gly226Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151186436A>CCA370035779ASB10c.540T>G (p.Asp180Glu)
c.495T>G (p.Asp165Glu)
c.675T>G (p.Asp225Glu)
7g.151186436A>GCA458881492ASB10c.540T>C (p.Asp180=)
c.495T>C (p.Asp165=)
c.675T>C (p.Asp225=)
7g.151186436A>TCA370035781ASB10c.540T>A (p.Asp180Glu)
c.495T>A (p.Asp165Glu)
c.675T>A (p.Asp225Glu)
gnomAD v4
7g.151186437T>ACA370035787ASB10c.539A>T (p.Asp180Val)
c.494A>T (p.Asp165Val)
c.674A>T (p.Asp225Val)
7g.151186437T>CCA370035785ASB10c.539A>G (p.Asp180Gly)
c.494A>G (p.Asp165Gly)
c.674A>G (p.Asp225Gly)
7g.151186437T>GCA370035783ASB10c.539A>C (p.Asp180Ala)
c.494A>C (p.Asp165Ala)
c.674A>C (p.Asp225Ala)
7g.151186438C>ACA370035789ASB10c.538G>T (p.Asp180Tyr)
c.493G>T (p.Asp165Tyr)
c.673G>T (p.Asp225Tyr)
gnomAD v4
7g.151186438C>GCA370035791ASB10c.538G>C (p.Asp180His)
c.493G>C (p.Asp165His)
c.673G>C (p.Asp225His)
7g.151186438C>TCA370035792ASB10c.538G>A (p.Asp180Asn)
c.493G>A (p.Asp165Asn)
c.673G>A (p.Asp225Asn)
gnomAD v4
7g.151186439C>ACA370035794ASB10c.537G>T (p.Gln179His)
c.492G>T (p.Gln164His)
c.672G>T (p.Gln224His)
gnomAD v4
7g.151186439C=CA1752544854ASB10c.537G= (p.Gln179=)
c.492G= (p.Gln164=)
c.672G= (p.Gln224=)
7g.151186439C>GCA370035796ASB10c.537G>C (p.Gln179His)
c.492G>C (p.Gln164His)
c.672G>C (p.Gln224His)
7g.151186439C>TCA458881496ASB10c.537G>A (p.Gln179=)
c.492G>A (p.Gln164=)
c.672G>A (p.Gln224=)
dbSNP gnomAD v2 gnomAD v4
7g.151186440T>ACA370035798ASB10c.536A>T (p.Gln179Leu)
c.491A>T (p.Gln164Leu)
c.671A>T (p.Gln224Leu)
7g.151186440T>CCA370035800ASB10c.536A>G (p.Gln179Arg)
c.491A>G (p.Gln164Arg)
c.671A>G (p.Gln224Arg)
gnomAD v4
7g.151186440T>GCA370035801ASB10c.536A>C (p.Gln179Pro)
c.491A>C (p.Gln164Pro)
c.671A>C (p.Gln224Pro)
7g.151186441G>ACA370035803ASB10c.535C>T (p.Gln179Ter)
c.490C>T (p.Gln164Ter)
c.670C>T (p.Gln224Ter)
gnomAD v4
7g.151186441G>CCA370035804ASB10c.535C>G (p.Gln179Glu)
c.490C>G (p.Gln164Glu)
c.670C>G (p.Gln224Glu)
7g.151186441G>TCA370035806ASB10c.535C>A (p.Gln179Lys)
c.490C>A (p.Gln164Lys)
c.670C>A (p.Gln224Lys)
gnomAD v4
7g.151186442G>ACA458881497ASB10c.534C>T (p.Asp178=)
c.489C>T (p.Asp163=)
c.669C>T (p.Asp223=)
dbSNP gnomAD v4
7g.151186442G>CCA370035808ASB10c.534C>G (p.Asp178Glu)
c.489C>G (p.Asp163Glu)
c.669C>G (p.Asp223Glu)
7g.151186442G=CA1752544856ASB10c.534C= (p.Asp178=)
c.489C= (p.Asp163=)
c.669C= (p.Asp223=)
7g.151186442G>TCA370035810ASB10c.534C>A (p.Asp178Glu)
c.489C>A (p.Asp163Glu)
c.669C>A (p.Asp223Glu)
7g.151186443T>ACA370035816ASB10c.533A>T (p.Asp178Val)
c.488A>T (p.Asp163Val)
c.668A>T (p.Asp223Val)
7g.151186443T>CCA370035812ASB10c.533A>G (p.Asp178Gly)
c.488A>G (p.Asp163Gly)
c.668A>G (p.Asp223Gly)
7g.151186443T>GCA370035814ASB10c.533A>C (p.Asp178Ala)
c.488A>C (p.Asp163Ala)
c.668A>C (p.Asp223Ala)
7g.151186444C>ACA370035817ASB10c.532G>T (p.Asp178Tyr)
c.487G>T (p.Asp163Tyr)
c.667G>T (p.Asp223Tyr)
gnomAD v4
7g.151186444C=CA1752544859ASB10c.532G= (p.Asp178=)
c.487G= (p.Asp163=)
c.667G= (p.Asp223=)
7g.151186444C>GCA370035819ASB10c.532G>C (p.Asp178His)
c.487G>C (p.Asp163His)
c.667G>C (p.Asp223His)
7g.151186444C>TCA370035820ASB10c.532G>A (p.Asp178Asn)
c.487G>A (p.Asp163Asn)
c.667G>A (p.Asp223Asn)
dbSNP

Number of alleles fetched