Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7125246G>ACA9135320INSRc.3258+37C>T (n.3258+37C>T)
c.3222+37C>T (n.3222+37C>T)
n.104+37C>T
c.3333+37C>T (n.3333+37C>T)
c.3297+37C>T (n.3297+37C>T)
c.3255+37C>T (n.3255+37C>T)
c.3219+37C>T (n.3219+37C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125246G>CCA9135321INSRc.3258+37C>G (n.3258+37C>G)
c.3222+37C>G (n.3222+37C>G)
n.104+37C>G
c.3333+37C>G (n.3333+37C>G)
c.3297+37C>G (n.3297+37C>G)
c.3255+37C>G (n.3255+37C>G)
c.3219+37C>G (n.3219+37C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125246G=CA2320767889INSRc.3258+37C= (n.3258+37C=)
c.3222+37C= (n.3222+37C=)
n.104+37C=
c.3333+37C= (n.3333+37C=)
c.3297+37C= (n.3297+37C=)
c.3255+37C= (n.3255+37C=)
c.3219+37C= (n.3219+37C=)
19g.7125249A>CCA2813462926INSRc.3258+34T>G (n.3258+34T>G)
c.3222+34T>G (n.3222+34T>G)
n.104+34T>G
c.3333+34T>G (n.3333+34T>G)
c.3297+34T>G (n.3297+34T>G)
c.3255+34T>G (n.3255+34T>G)
c.3219+34T>G (n.3219+34T>G)
19g.7125252C>TCA2587922078INSRc.3258+31G>A (n.3258+31G>A)
c.3222+31G>A (n.3222+31G>A)
n.104+31G>A
c.3333+31G>A (n.3333+31G>A)
c.3297+31G>A (n.3297+31G>A)
c.3255+31G>A (n.3255+31G>A)
c.3219+31G>A (n.3219+31G>A)
gnomAD v4
19g.7125253C>GCA2587922079INSRc.3258+30G>C (n.3258+30G>C)
c.3222+30G>C (n.3222+30G>C)
n.104+30G>C
c.3333+30G>C (n.3333+30G>C)
c.3297+30G>C (n.3297+30G>C)
c.3255+30G>C (n.3255+30G>C)
c.3219+30G>C (n.3219+30G>C)
gnomAD v4
19g.7125256C>ACA2505810619INSRc.3258+27G>T (n.3258+27G>T)
c.3222+27G>T (n.3222+27G>T)
n.104+27G>T
c.3333+27G>T (n.3333+27G>T)
c.3297+27G>T (n.3297+27G>T)
c.3255+27G>T (n.3255+27G>T)
c.3219+27G>T (n.3219+27G>T)
gnomAD v4
19g.7125256C=CA2320767890INSRc.3258+27G= (n.3258+27G=)
c.3222+27G= (n.3222+27G=)
n.104+27G=
c.3333+27G= (n.3333+27G=)
c.3297+27G= (n.3297+27G=)
c.3255+27G= (n.3255+27G=)
c.3219+27G= (n.3219+27G=)
19g.7125256C>TCA631693285INSRc.3258+27G>A (n.3258+27G>A)
c.3222+27G>A (n.3222+27G>A)
n.104+27G>A
c.3333+27G>A (n.3333+27G>A)
c.3297+27G>A (n.3297+27G>A)
c.3255+27G>A (n.3255+27G>A)
c.3219+27G>A (n.3219+27G>A)
dbSNP gnomAD v2 gnomAD v4
19g.7125257C>GCA2587922080INSRc.3258+26G>C (n.3258+26G>C)
c.3222+26G>C (n.3222+26G>C)
n.104+26G>C
c.3333+26G>C (n.3333+26G>C)
c.3297+26G>C (n.3297+26G>C)
c.3255+26G>C (n.3255+26G>C)
c.3219+26G>C (n.3219+26G>C)
gnomAD v4
19g.7125258C>TCA2587922081INSRc.3258+25G>A (n.3258+25G>A)
c.3222+25G>A (n.3222+25G>A)
n.104+25G>A
c.3333+25G>A (n.3333+25G>A)
c.3297+25G>A (n.3297+25G>A)
c.3255+25G>A (n.3255+25G>A)
c.3219+25G>A (n.3219+25G>A)
gnomAD v4
19g.7125259A=CA2320767891INSRc.3258+24T= (n.3258+24T=)
c.3222+24T= (n.3222+24T=)
n.104+24T=
c.3333+24T= (n.3333+24T=)
c.3297+24T= (n.3297+24T=)
c.3255+24T= (n.3255+24T=)
c.3219+24T= (n.3219+24T=)
19g.7125259A>CCA631693286INSRc.3258+24T>G (n.3258+24T>G)
c.3222+24T>G (n.3222+24T>G)
n.104+24T>G
c.3333+24T>G (n.3333+24T>G)
c.3297+24T>G (n.3297+24T>G)
c.3255+24T>G (n.3255+24T>G)
c.3219+24T>G (n.3219+24T>G)
dbSNP gnomAD v2
19g.7125261G>TCA2587922082INSRc.3258+22C>A (n.3258+22C>A)
c.3222+22C>A (n.3222+22C>A)
n.104+22C>A
c.3333+22C>A (n.3333+22C>A)
c.3297+22C>A (n.3297+22C>A)
c.3255+22C>A (n.3255+22C>A)
c.3219+22C>A (n.3219+22C>A)
gnomAD v4
19g.7125262T>CCA9135322INSRc.3258+21A>G (n.3258+21A>G)
c.3222+21A>G (n.3222+21A>G)
n.104+21A>G
c.3333+21A>G (n.3333+21A>G)
c.3297+21A>G (n.3297+21A>G)
c.3255+21A>G (n.3255+21A>G)
c.3219+21A>G (n.3219+21A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125262T=CA2320767892INSRc.3258+21A= (n.3258+21A=)
c.3222+21A= (n.3222+21A=)
n.104+21A=
c.3333+21A= (n.3333+21A=)
c.3297+21A= (n.3297+21A=)
c.3255+21A= (n.3255+21A=)
c.3219+21A= (n.3219+21A=)
19g.7125263C>ACA9135323INSRc.3258+20G>T (n.3258+20G>T)
c.3222+20G>T (n.3222+20G>T)
n.104+20G>T
c.3333+20G>T (n.3333+20G>T)
c.3297+20G>T (n.3297+20G>T)
c.3255+20G>T (n.3255+20G>T)
c.3219+20G>T (n.3219+20G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125263C=CA2320767893INSRc.3258+20G= (n.3258+20G=)
c.3222+20G= (n.3222+20G=)
n.104+20G=
c.3333+20G= (n.3333+20G=)
c.3297+20G= (n.3297+20G=)
c.3255+20G= (n.3255+20G=)
c.3219+20G= (n.3219+20G=)
19g.7125263C>TCA631693287INSRc.3258+20G>A (n.3258+20G>A)
c.3222+20G>A (n.3222+20G>A)
n.104+20G>A
c.3333+20G>A (n.3333+20G>A)
c.3297+20G>A (n.3297+20G>A)
c.3255+20G>A (n.3255+20G>A)
c.3219+20G>A (n.3219+20G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125264C>ACA2735470301INSRc.3258+19G>T (n.3258+19G>T)
c.3222+19G>T (n.3222+19G>T)
n.104+19G>T
c.3333+19G>T (n.3333+19G>T)
c.3297+19G>T (n.3297+19G>T)
c.3255+19G>T (n.3255+19G>T)
c.3219+19G>T (n.3219+19G>T)
dbSNP
19g.7125264C>TCA2587922083INSRc.3258+19G>A (n.3258+19G>A)
c.3222+19G>A (n.3222+19G>A)
n.104+19G>A
c.3333+19G>A (n.3333+19G>A)
c.3297+19G>A (n.3297+19G>A)
c.3255+19G>A (n.3255+19G>A)
c.3219+19G>A (n.3219+19G>A)
gnomAD v4
19g.7125265C>ACA2587922084INSRc.3258+18G>T (n.3258+18G>T)
c.3222+18G>T (n.3222+18G>T)
n.104+18G>T
c.3333+18G>T (n.3333+18G>T)
c.3297+18G>T (n.3297+18G>T)
c.3255+18G>T (n.3255+18G>T)
c.3219+18G>T (n.3219+18G>T)
gnomAD v4
19g.7125267C=CA2320767894INSRc.3258+16G= (n.3258+16G=)
c.3222+16G= (n.3222+16G=)
n.104+16G=
c.3333+16G= (n.3333+16G=)
c.3297+16G= (n.3297+16G=)
c.3255+16G= (n.3255+16G=)
c.3219+16G= (n.3219+16G=)
19g.7125267C>TCA9135324INSRc.3258+16G>A (n.3258+16G>A)
c.3222+16G>A (n.3222+16G>A)
n.104+16G>A
c.3333+16G>A (n.3333+16G>A)
c.3297+16G>A (n.3297+16G>A)
c.3255+16G>A (n.3255+16G>A)
c.3219+16G>A (n.3219+16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125271delCA2587922085INSRc.3258+16del (n.3258+16del)
c.3222+16del (n.3222+16del)
n.104+16del
c.3333+16del (n.3333+16del)
c.3297+16del (n.3297+16del)
c.3255+16del (n.3255+16del)
c.3219+16del (n.3219+16del)
gnomAD v4
19g.7125268C>ACA2735470377INSRc.3258+15G>T (n.3258+15G>T)
c.3222+15G>T (n.3222+15G>T)
n.104+15G>T
c.3333+15G>T (n.3333+15G>T)
c.3297+15G>T (n.3297+15G>T)
c.3255+15G>T (n.3255+15G>T)
c.3219+15G>T (n.3219+15G>T)
dbSNP
19g.7125269C>ACA2555625860INSRc.3258+14G>T (n.3258+14G>T)
c.3222+14G>T (n.3222+14G>T)
n.104+14G>T
c.3333+14G>T (n.3333+14G>T)
c.3297+14G>T (n.3297+14G>T)
c.3255+14G>T (n.3255+14G>T)
c.3219+14G>T (n.3219+14G>T)
gnomAD v4
19g.7125269C=CA2320767895INSRc.3258+14G= (n.3258+14G=)
c.3222+14G= (n.3222+14G=)
n.104+14G=
c.3333+14G= (n.3333+14G=)
c.3297+14G= (n.3297+14G=)
c.3255+14G= (n.3255+14G=)
c.3219+14G= (n.3219+14G=)
19g.7125269C>GCA2587922086INSRc.3258+14G>C (n.3258+14G>C)
c.3222+14G>C (n.3222+14G>C)
n.104+14G>C
c.3333+14G>C (n.3333+14G>C)
c.3297+14G>C (n.3297+14G>C)
c.3255+14G>C (n.3255+14G>C)
c.3219+14G>C (n.3219+14G>C)
gnomAD v4
19g.7125269C>TCA2320767896INSRc.3258+14G>A (n.3258+14G>A)
c.3222+14G>A (n.3222+14G>A)
n.104+14G>A
c.3333+14G>A (n.3333+14G>A)
c.3297+14G>A (n.3297+14G>A)
c.3255+14G>A (n.3255+14G>A)
c.3219+14G>A (n.3219+14G>A)
dbSNP gnomAD v4
19g.7125270C>GCA2576595011INSRc.3258+13G>C (n.3258+13G>C)
c.3222+13G>C (n.3222+13G>C)
n.104+13G>C
c.3333+13G>C (n.3333+13G>C)
c.3297+13G>C (n.3297+13G>C)
c.3255+13G>C (n.3255+13G>C)
c.3219+13G>C (n.3219+13G>C)
dbSNP gnomAD v3 gnomAD v4
19g.7125271C=CA2320767897INSRc.3258+12G= (n.3258+12G=)
c.3222+12G= (n.3222+12G=)
n.104+12G=
c.3333+12G= (n.3333+12G=)
c.3297+12G= (n.3297+12G=)
c.3255+12G= (n.3255+12G=)
c.3219+12G= (n.3219+12G=)
19g.7125271C>GCA9135325INSRc.3258+12G>C (n.3258+12G>C)
c.3222+12G>C (n.3222+12G>C)
n.104+12G>C
c.3333+12G>C (n.3333+12G>C)
c.3297+12G>C (n.3297+12G>C)
c.3255+12G>C (n.3255+12G>C)
c.3219+12G>C (n.3219+12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125271C>TCA2587922087INSRc.3258+12G>A (n.3258+12G>A)
c.3222+12G>A (n.3222+12G>A)
n.104+12G>A
c.3333+12G>A (n.3333+12G>A)
c.3297+12G>A (n.3297+12G>A)
c.3255+12G>A (n.3255+12G>A)
c.3219+12G>A (n.3219+12G>A)
gnomAD v4
19g.7125272A>CCA2587922089INSRc.3258+11T>G (n.3258+11T>G)
c.3222+11T>G (n.3222+11T>G)
n.104+11T>G
c.3333+11T>G (n.3333+11T>G)
c.3297+11T>G (n.3297+11T>G)
c.3255+11T>G (n.3255+11T>G)
c.3219+11T>G (n.3219+11T>G)
gnomAD v4
19g.7125272dupCA2587922088INSRc.3258+11dup (n.3258+11dup)
c.3222+11dup (n.3222+11dup)
n.104+11dup
c.3333+11dup (n.3333+11dup)
c.3297+11dup (n.3297+11dup)
c.3255+11dup (n.3255+11dup)
c.3219+11dup (n.3219+11dup)
gnomAD v4
19g.7125273C>ACA2587922090INSRc.3258+10G>T (n.3258+10G>T)
c.3222+10G>T (n.3222+10G>T)
n.104+10G>T
c.3333+10G>T (n.3333+10G>T)
c.3297+10G>T (n.3297+10G>T)
c.3255+10G>T (n.3255+10G>T)
c.3219+10G>T (n.3219+10G>T)
gnomAD v4
19g.7125273C=CA2320767898INSRc.3258+10G= (n.3258+10G=)
c.3222+10G= (n.3222+10G=)
n.104+10G=
c.3333+10G= (n.3333+10G=)
c.3297+10G= (n.3297+10G=)
c.3255+10G= (n.3255+10G=)
c.3219+10G= (n.3219+10G=)
19g.7125273C>TCA2320767899INSRc.3258+10G>A (n.3258+10G>A)
c.3222+10G>A (n.3222+10G>A)
n.104+10G>A
c.3333+10G>A (n.3333+10G>A)
c.3297+10G>A (n.3297+10G>A)
c.3255+10G>A (n.3255+10G>A)
c.3219+10G>A (n.3219+10G>A)
dbSNP
19g.7125274T>CCA2587922091INSRc.3258+9A>G (n.3258+9A>G)
c.3222+9A>G (n.3222+9A>G)
n.104+9A>G
c.3333+9A>G (n.3333+9A>G)
c.3297+9A>G (n.3297+9A>G)
c.3255+9A>G (n.3255+9A>G)
c.3219+9A>G (n.3219+9A>G)
gnomAD v4
19g.7125274T>GCA2587922092INSRc.3258+9A>C (n.3258+9A>C)
c.3222+9A>C (n.3222+9A>C)
n.104+9A>C
c.3333+9A>C (n.3333+9A>C)
c.3297+9A>C (n.3297+9A>C)
c.3255+9A>C (n.3255+9A>C)
c.3219+9A>C (n.3219+9A>C)
gnomAD v4
19g.7125276G=CA2320767900INSRc.3258+7C= (n.3258+7C=)
c.3222+7C= (n.3222+7C=)
n.104+7C=
c.3333+7C= (n.3333+7C=)
c.3297+7C= (n.3297+7C=)
c.3255+7C= (n.3255+7C=)
c.3219+7C= (n.3219+7C=)
19g.7125276G>TCA631693288INSRc.3258+7C>A (n.3258+7C>A)
c.3222+7C>A (n.3222+7C>A)
n.104+7C>A
c.3333+7C>A (n.3333+7C>A)
c.3297+7C>A (n.3297+7C>A)
c.3255+7C>A (n.3255+7C>A)
c.3219+7C>A (n.3219+7C>A)
dbSNP gnomAD v2 gnomAD v4
19g.7125278C>ACA2587922093INSRc.3258+5G>T (n.3258+5G>T)
c.3222+5G>T (n.3222+5G>T)
n.104+5G>T
c.3333+5G>T (n.3333+5G>T)
c.3297+5G>T (n.3297+5G>T)
c.3255+5G>T (n.3255+5G>T)
c.3219+5G>T (n.3219+5G>T)
gnomAD v4
19g.7125279T>CCA2695228017INSRc.3258+4A>G (n.3258+4A>G)
c.3222+4A>G (n.3222+4A>G)
n.104+4A>G
c.3333+4A>G (n.3333+4A>G)
c.3297+4A>G (n.3297+4A>G)
c.3255+4A>G (n.3255+4A>G)
c.3219+4A>G (n.3219+4A>G)
19g.7125280C=CA2320767901INSRc.3258+3G= (n.3258+3G=)
c.3222+3G= (n.3222+3G=)
n.104+3G=
c.3333+3G= (n.3333+3G=)
c.3297+3G= (n.3297+3G=)
c.3255+3G= (n.3255+3G=)
c.3219+3G= (n.3219+3G=)
19g.7125280C>GCA2587922094INSRc.3258+3G>C (n.3258+3G>C)
c.3222+3G>C (n.3222+3G>C)
n.104+3G>C
c.3333+3G>C (n.3333+3G>C)
c.3297+3G>C (n.3297+3G>C)
c.3255+3G>C (n.3255+3G>C)
c.3219+3G>C (n.3219+3G>C)
gnomAD v4
19g.7125280C>TCA993122286INSRc.3258+3G>A (n.3258+3G>A)
c.3222+3G>A (n.3222+3G>A)
n.104+3G>A
c.3333+3G>A (n.3333+3G>A)
c.3297+3G>A (n.3297+3G>A)
c.3255+3G>A (n.3255+3G>A)
c.3219+3G>A (n.3219+3G>A)
dbSNP gnomAD v3 gnomAD v4
19g.7125283_7125285delCA2739291167INSRc.3258+1_3258+3del
c.3222+1_3222+3del
n.104+1_104+3del
c.3333+1_3333+3del
c.3297+1_3297+3del
c.3255+1_3255+3del
c.3219+1_3219+3del
19g.7125281A>CCA403670960INSRc.3258+2T>G (n.3258+2T>G)
c.3222+2T>G (n.3222+2T>G)
n.104+2T>G
c.3333+2T>G (n.3333+2T>G)
c.3297+2T>G (n.3297+2T>G)
c.3255+2T>G (n.3255+2T>G)
c.3219+2T>G (n.3219+2T>G)
19g.7125281A>GCA403670961INSRc.3258+2T>C (n.3258+2T>C)
c.3222+2T>C (n.3222+2T>C)
n.104+2T>C
c.3333+2T>C (n.3333+2T>C)
c.3297+2T>C (n.3297+2T>C)
c.3255+2T>C (n.3255+2T>C)
c.3219+2T>C (n.3219+2T>C)
19g.7125281A>TCA403670962INSRc.3258+2T>A (n.3258+2T>A)
c.3222+2T>A (n.3222+2T>A)
n.104+2T>A
c.3333+2T>A (n.3333+2T>A)
c.3297+2T>A (n.3297+2T>A)
c.3255+2T>A (n.3255+2T>A)
c.3219+2T>A (n.3219+2T>A)
19g.7125282C>ACA403670963INSRc.3258+1G>T (n.3258+1G>T)
c.3222+1G>T (n.3222+1G>T)
n.104+1G>T
c.3333+1G>T (n.3333+1G>T)
c.3297+1G>T (n.3297+1G>T)
c.3255+1G>T (n.3255+1G>T)
c.3219+1G>T (n.3219+1G>T)
19g.7125282C>GCA403670964INSRc.3258+1G>C (n.3258+1G>C)
c.3222+1G>C (n.3222+1G>C)
n.104+1G>C
c.3333+1G>C (n.3333+1G>C)
c.3297+1G>C (n.3297+1G>C)
c.3255+1G>C (n.3255+1G>C)
c.3219+1G>C (n.3219+1G>C)
19g.7125282C>TCA403670965INSRc.3258+1G>A (n.3258+1G>A)
c.3222+1G>A (n.3222+1G>A)
n.104+1G>A
c.3333+1G>A (n.3333+1G>A)
c.3297+1G>A (n.3297+1G>A)
c.3255+1G>A (n.3255+1G>A)
c.3219+1G>A (n.3219+1G>A)
19g.7125283C>ACA505217134INSRc.3258G>T (p.Val1086=)
c.3222G>T (p.Val1074=)
n.104G>T
c.3333G>T (p.Val1111=)
c.3297G>T (p.Val1099=)
c.3255G>T (p.Val1085=)
c.3219G>T (p.Val1073=)
dbSNP
19g.7125283C=CA2320767902INSRc.3258G= (p.Val1086=)
c.3222G= (p.Val1074=)
n.104G=
c.3333G= (p.Val1111=)
c.3297G= (p.Val1099=)
c.3255G= (p.Val1085=)
c.3219G= (p.Val1073=)
19g.7125283C>GCA505217133INSRc.3258G>C (p.Val1086=)
c.3222G>C (p.Val1074=)
n.104G>C
c.3333G>C (p.Val1111=)
c.3297G>C (p.Val1099=)
c.3255G>C (p.Val1085=)
c.3219G>C (p.Val1073=)
gnomAD v4
19g.7125283C>TCA9135326INSRc.3258G>A (p.Val1086=)
c.3222G>A (p.Val1074=)
n.104G>A
c.3333G>A (p.Val1111=)
c.3297G>A (p.Val1099=)
c.3255G>A (p.Val1085=)
c.3219G>A (p.Val1073=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125284A>CCA403670966INSRc.3257T>G (p.Val1086Gly)
c.3221T>G (p.Val1074Gly)
n.103T>G
c.3332T>G (p.Val1111Gly)
c.3296T>G (p.Val1099Gly)
c.3254T>G (p.Val1085Gly)
c.3218T>G (p.Val1073Gly)
19g.7125284A>GCA403670967INSRc.3257T>C (p.Val1086Ala)
c.3221T>C (p.Val1074Ala)
n.103T>C
c.3332T>C (p.Val1111Ala)
c.3296T>C (p.Val1099Ala)
c.3254T>C (p.Val1085Ala)
c.3218T>C (p.Val1073Ala)
19g.7125284A>TCA403670968INSRc.3257T>A (p.Val1086Glu)
c.3221T>A (p.Val1074Glu)
n.103T>A
c.3332T>A (p.Val1111Glu)
c.3296T>A (p.Val1099Glu)
c.3254T>A (p.Val1085Glu)
c.3218T>A (p.Val1073Glu)
19g.7125285C>ACA403670970INSRc.3256G>T (p.Val1086Leu)
c.3220G>T (p.Val1074Leu)
n.102G>T
c.3331G>T (p.Val1111Leu)
c.3295G>T (p.Val1099Leu)
c.3253G>T (p.Val1085Leu)
c.3217G>T (p.Val1073Leu)
19g.7125285C=CA2320767903INSRc.3256G= (p.Val1086=)
c.3220G= (p.Val1074=)
n.102G=
c.3331G= (p.Val1111=)
c.3295G= (p.Val1099=)
c.3253G= (p.Val1085=)
c.3217G= (p.Val1073=)
19g.7125285C>GCA403670969INSRc.3256G>C (p.Val1086Leu)
c.3220G>C (p.Val1074Leu)
n.102G>C
c.3331G>C (p.Val1111Leu)
c.3295G>C (p.Val1099Leu)
c.3253G>C (p.Val1085Leu)
c.3217G>C (p.Val1073Leu)
19g.7125285C>TCA9135327INSRc.3256G>A (p.Val1086Met)
c.3220G>A (p.Val1074Met)
n.102G>A
c.3331G>A (p.Val1111Met)
c.3295G>A (p.Val1099Met)
c.3253G>A (p.Val1085Met)
c.3217G>A (p.Val1073Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125286G>ACA201311INSRc.3255C>T (p.His1085=)
c.3219C>T (p.His1073=)
n.101C>T
c.3330C>T (p.His1110=)
c.3294C>T (p.His1098=)
c.3252C>T (p.His1084=)
c.3216C>T (p.His1072=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125286G>CCA403670971INSRc.3255C>G (p.His1085Gln)
c.3219C>G (p.His1073Gln)
n.101C>G
c.3330C>G (p.His1110Gln)
c.3294C>G (p.His1098Gln)
c.3252C>G (p.His1084Gln)
c.3216C>G (p.His1072Gln)
19g.7125286G=CA2320767904INSRc.3255C= (p.His1085=)
c.3219C= (p.His1073=)
n.101C=
c.3330C= (p.His1110=)
c.3294C= (p.His1098=)
c.3252C= (p.His1084=)
c.3216C= (p.His1072=)
19g.7125286G>TCA403670972INSRc.3255C>A (p.His1085Gln)
c.3219C>A (p.His1073Gln)
n.101C>A
c.3330C>A (p.His1110Gln)
c.3294C>A (p.His1098Gln)
c.3252C>A (p.His1084Gln)
c.3216C>A (p.His1072Gln)
19g.7125287T>ACA403670973INSRc.3254A>T (p.His1085Leu)
c.3218A>T (p.His1073Leu)
n.100A>T
c.3329A>T (p.His1110Leu)
c.3293A>T (p.His1098Leu)
c.3251A>T (p.His1084Leu)
c.3215A>T (p.His1072Leu)
19g.7125287T>CCA403670974INSRc.3254A>G (p.His1085Arg)
c.3218A>G (p.His1073Arg)
n.100A>G
c.3329A>G (p.His1110Arg)
c.3293A>G (p.His1098Arg)
c.3251A>G (p.His1084Arg)
c.3215A>G (p.His1072Arg)
19g.7125287T>GCA403670975INSRc.3254A>C (p.His1085Pro)
c.3218A>C (p.His1073Pro)
n.100A>C
c.3329A>C (p.His1110Pro)
c.3293A>C (p.His1098Pro)
c.3251A>C (p.His1084Pro)
c.3215A>C (p.His1072Pro)
19g.7125288G>ACA403670976INSRc.3253C>T (p.His1085Tyr)
c.3217C>T (p.His1073Tyr)
n.99C>T
c.3328C>T (p.His1110Tyr)
c.3292C>T (p.His1098Tyr)
c.3250C>T (p.His1084Tyr)
c.3214C>T (p.His1072Tyr)
19g.7125288G>CCA403670977INSRc.3253C>G (p.His1085Asp)
c.3217C>G (p.His1073Asp)
n.99C>G
c.3328C>G (p.His1110Asp)
c.3292C>G (p.His1098Asp)
c.3250C>G (p.His1084Asp)
c.3214C>G (p.His1072Asp)
19g.7125288G>TCA403670978INSRc.3253C>A (p.His1085Asn)
c.3217C>A (p.His1073Asn)
n.99C>A
c.3328C>A (p.His1110Asn)
c.3292C>A (p.His1098Asn)
c.3250C>A (p.His1084Asn)
c.3214C>A (p.His1072Asn)
19g.7125289A>CCA403670979INSRc.3252T>G (p.His1084Gln)
c.3216T>G (p.His1072Gln)
n.98T>G
c.3327T>G (p.His1109Gln)
c.3291T>G (p.His1097Gln)
c.3249T>G (p.His1083Gln)
c.3213T>G (p.His1071Gln)
19g.7125289A>GCA505217135INSRc.3252T>C (p.His1084=)
c.3216T>C (p.His1072=)
n.98T>C
c.3327T>C (p.His1109=)
c.3291T>C (p.His1097=)
c.3249T>C (p.His1083=)
c.3213T>C (p.His1071=)
19g.7125289A>TCA403670980INSRc.3252T>A (p.His1084Gln)
c.3216T>A (p.His1072Gln)
n.98T>A
c.3327T>A (p.His1109Gln)
c.3291T>A (p.His1097Gln)
c.3249T>A (p.His1083Gln)
c.3213T>A (p.His1071Gln)
19g.7125290T>ACA403670981INSRc.3251A>T (p.His1084Leu)
c.3215A>T (p.His1072Leu)
n.97A>T
c.3326A>T (p.His1109Leu)
c.3290A>T (p.His1097Leu)
c.3248A>T (p.His1083Leu)
c.3212A>T (p.His1071Leu)
19g.7125290T>CCA403670982INSRc.3251A>G (p.His1084Arg)
c.3215A>G (p.His1072Arg)
n.97A>G
c.3326A>G (p.His1109Arg)
c.3290A>G (p.His1097Arg)
c.3248A>G (p.His1083Arg)
c.3212A>G (p.His1071Arg)
gnomAD v4
19g.7125290T>GCA403670983INSRc.3251A>C (p.His1084Pro)
c.3215A>C (p.His1072Pro)
n.97A>C
c.3326A>C (p.His1109Pro)
c.3290A>C (p.His1097Pro)
c.3248A>C (p.His1083Pro)
c.3212A>C (p.His1071Pro)
19g.7125291G>ACA9135328INSRc.3250C>T (p.His1084Tyr)
c.3214C>T (p.His1072Tyr)
n.96C>T
c.3325C>T (p.His1109Tyr)
c.3289C>T (p.His1097Tyr)
c.3247C>T (p.His1083Tyr)
c.3211C>T (p.His1071Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125291G>CCA403670984INSRc.3250C>G (p.His1084Asp)
c.3214C>G (p.His1072Asp)
n.96C>G
c.3325C>G (p.His1109Asp)
c.3289C>G (p.His1097Asp)
c.3247C>G (p.His1083Asp)
c.3211C>G (p.His1071Asp)
19g.7125291G=CA2320767905INSRc.3250C= (p.His1084=)
c.3214C= (p.His1072=)
n.96C=
c.3325C= (p.His1109=)
c.3289C= (p.His1097=)
c.3247C= (p.His1083=)
c.3211C= (p.His1071=)
19g.7125291G>TCA403670985INSRc.3250C>A (p.His1084Asn)
c.3214C>A (p.His1072Asn)
n.96C>A
c.3325C>A (p.His1109Asn)
c.3289C>A (p.His1097Asn)
c.3247C>A (p.His1083Asn)
c.3211C>A (p.His1071Asn)
19g.7125292G>ACA505217136INSRc.3249C>T (p.Cys1083=)
c.3213C>T (p.Cys1071=)
n.95C>T
c.3324C>T (p.Cys1108=)
c.3288C>T (p.Cys1096=)
c.3246C>T (p.Cys1082=)
c.3210C>T (p.Cys1070=)
19g.7125292G>CCA403670986INSRc.3249C>G (p.Cys1083Trp)
c.3213C>G (p.Cys1071Trp)
n.95C>G
c.3324C>G (p.Cys1108Trp)
c.3288C>G (p.Cys1096Trp)
c.3246C>G (p.Cys1082Trp)
c.3210C>G (p.Cys1070Trp)
19g.7125292G=CA2320767906INSRc.3249C= (p.Cys1083=)
c.3213C= (p.Cys1071=)
n.95C=
c.3324C= (p.Cys1108=)
c.3288C= (p.Cys1096=)
c.3246C= (p.Cys1082=)
c.3210C= (p.Cys1070=)
19g.7125292G>TCA403670987INSRc.3249C>A (p.Cys1083Ter)
c.3213C>A (p.Cys1071Ter)
n.95C>A
c.3324C>A (p.Cys1108Ter)
c.3288C>A (p.Cys1096Ter)
c.3246C>A (p.Cys1082Ter)
c.3210C>A (p.Cys1070Ter)
dbSNP
19g.7125293C>ACA403670988INSRc.3248G>T (p.Cys1083Phe)
c.3212G>T (p.Cys1071Phe)
n.94G>T
c.3323G>T (p.Cys1108Phe)
c.3287G>T (p.Cys1096Phe)
c.3245G>T (p.Cys1082Phe)
c.3209G>T (p.Cys1070Phe)
19g.7125293C>GCA403670989INSRc.3248G>C (p.Cys1083Ser)
c.3212G>C (p.Cys1071Ser)
n.94G>C
c.3323G>C (p.Cys1108Ser)
c.3287G>C (p.Cys1096Ser)
c.3245G>C (p.Cys1082Ser)
c.3209G>C (p.Cys1070Ser)
19g.7125293C>TCA403670990INSRc.3248G>A (p.Cys1083Tyr)
c.3212G>A (p.Cys1071Tyr)
n.94G>A
c.3323G>A (p.Cys1108Tyr)
c.3287G>A (p.Cys1096Tyr)
c.3245G>A (p.Cys1082Tyr)
c.3209G>A (p.Cys1070Tyr)
dbSNP
19g.7125294A>CCA403670991INSRc.3247T>G (p.Cys1083Gly)
c.3211T>G (p.Cys1071Gly)
n.93T>G
c.3322T>G (p.Cys1108Gly)
c.3286T>G (p.Cys1096Gly)
c.3244T>G (p.Cys1082Gly)
c.3208T>G (p.Cys1070Gly)
19g.7125294A>GCA403670992INSRc.3247T>C (p.Cys1083Arg)
c.3211T>C (p.Cys1071Arg)
n.93T>C
c.3322T>C (p.Cys1108Arg)
c.3286T>C (p.Cys1096Arg)
c.3244T>C (p.Cys1082Arg)
c.3208T>C (p.Cys1070Arg)
19g.7125294A>TCA403670993INSRc.3247T>A (p.Cys1083Ser)
c.3211T>A (p.Cys1071Ser)
n.93T>A
c.3322T>A (p.Cys1108Ser)
c.3286T>A (p.Cys1096Ser)
c.3244T>A (p.Cys1082Ser)
c.3208T>A (p.Cys1070Ser)
19g.7125295G>ACA505217138INSRc.3246C>T (p.Thr1082=)
c.3210C>T (p.Thr1070=)
n.92C>T
c.3321C>T (p.Thr1107=)
c.3285C>T (p.Thr1095=)
c.3243C>T (p.Thr1081=)
c.3207C>T (p.Thr1069=)
19g.7125295G>CCA505217137INSRc.3246C>G (p.Thr1082=)
c.3210C>G (p.Thr1070=)
n.92C>G
c.3321C>G (p.Thr1107=)
c.3285C>G (p.Thr1095=)
c.3243C>G (p.Thr1081=)
c.3207C>G (p.Thr1069=)
19g.7125295G>TCA505217139INSRc.3246C>A (p.Thr1082=)
c.3210C>A (p.Thr1070=)
n.92C>A
c.3321C>A (p.Thr1107=)
c.3285C>A (p.Thr1095=)
c.3243C>A (p.Thr1081=)
c.3207C>A (p.Thr1069=)
19g.7125296G>ACA304873306INSRc.3245C>T (p.Thr1082Ile)
c.3209C>T (p.Thr1070Ile)
n.91C>T
c.3320C>T (p.Thr1107Ile)
c.3284C>T (p.Thr1095Ile)
c.3242C>T (p.Thr1081Ile)
c.3206C>T (p.Thr1069Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125296G>CCA403670994INSRc.3245C>G (p.Thr1082Ser)
c.3209C>G (p.Thr1070Ser)
n.91C>G
c.3320C>G (p.Thr1107Ser)
c.3284C>G (p.Thr1095Ser)
c.3242C>G (p.Thr1081Ser)
c.3206C>G (p.Thr1069Ser)
19g.7125296G=CA2320767907INSRc.3245C= (p.Thr1082=)
c.3209C= (p.Thr1070=)
n.91C=
c.3320C= (p.Thr1107=)
c.3284C= (p.Thr1095=)
c.3242C= (p.Thr1081=)
c.3206C= (p.Thr1069=)
19g.7125296G>TCA403670995INSRc.3245C>A (p.Thr1082Asn)
c.3209C>A (p.Thr1070Asn)
n.91C>A
c.3320C>A (p.Thr1107Asn)
c.3284C>A (p.Thr1095Asn)
c.3242C>A (p.Thr1081Asn)
c.3206C>A (p.Thr1069Asn)
19g.7125297T>ACA403670996INSRc.3244A>T (p.Thr1082Ser)
c.3208A>T (p.Thr1070Ser)
n.90A>T
c.3319A>T (p.Thr1107Ser)
c.3283A>T (p.Thr1095Ser)
c.3241A>T (p.Thr1081Ser)
c.3205A>T (p.Thr1069Ser)
dbSNP
19g.7125297T>CCA403670997INSRc.3244A>G (p.Thr1082Ala)
c.3208A>G (p.Thr1070Ala)
n.90A>G
c.3319A>G (p.Thr1107Ala)
c.3283A>G (p.Thr1095Ala)
c.3241A>G (p.Thr1081Ala)
c.3205A>G (p.Thr1069Ala)
19g.7125297T>GCA9135329INSRc.3244A>C (p.Thr1082Pro)
c.3208A>C (p.Thr1070Pro)
n.90A>C
c.3319A>C (p.Thr1107Pro)
c.3283A>C (p.Thr1095Pro)
c.3241A>C (p.Thr1081Pro)
c.3205A>C (p.Thr1069Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125297T=CA2320767908INSRc.3244A= (p.Thr1082=)
c.3208A= (p.Thr1070=)
n.90A=
c.3319A= (p.Thr1107=)
c.3283A= (p.Thr1095=)
c.3241A= (p.Thr1081=)
c.3205A= (p.Thr1069=)
19g.7125298G>ACA505400169INSRc.3243C>T (p.Phe1081=)
c.3207C>T (p.Phe1069=)
n.89C>T
c.3318C>T (p.Phe1106=)
c.3282C>T (p.Phe1094=)
c.3240C>T (p.Phe1080=)
c.3204C>T (p.Phe1068=)
19g.7125298G>CCA403670998INSRc.3243C>G (p.Phe1081Leu)
c.3207C>G (p.Phe1069Leu)
n.89C>G
c.3318C>G (p.Phe1106Leu)
c.3282C>G (p.Phe1094Leu)
c.3240C>G (p.Phe1080Leu)
c.3204C>G (p.Phe1068Leu)
19g.7125298G>TCA403670999INSRc.3243C>A (p.Phe1081Leu)
c.3207C>A (p.Phe1069Leu)
n.89C>A
c.3318C>A (p.Phe1106Leu)
c.3282C>A (p.Phe1094Leu)
c.3240C>A (p.Phe1080Leu)
c.3204C>A (p.Phe1068Leu)
gnomAD v4
19g.7125299A=CA2320767909INSRc.3242T= (p.Phe1081=)
c.3206T= (p.Phe1069=)
n.88T=
c.3317T= (p.Phe1106=)
c.3281T= (p.Phe1094=)
c.3239T= (p.Phe1080=)
c.3203T= (p.Phe1068=)
19g.7125299A>CCA403671000INSRc.3242T>G (p.Phe1081Cys)
c.3206T>G (p.Phe1069Cys)
n.88T>G
c.3317T>G (p.Phe1106Cys)
c.3281T>G (p.Phe1094Cys)
c.3239T>G (p.Phe1080Cys)
c.3203T>G (p.Phe1068Cys)
19g.7125299A>GCA403671001INSRc.3242T>C (p.Phe1081Ser)
c.3206T>C (p.Phe1069Ser)
n.88T>C
c.3317T>C (p.Phe1106Ser)
c.3281T>C (p.Phe1094Ser)
c.3239T>C (p.Phe1080Ser)
c.3203T>C (p.Phe1068Ser)
dbSNP gnomAD v2 gnomAD v4
19g.7125299A>TCA403671002INSRc.3242T>A (p.Phe1081Tyr)
c.3206T>A (p.Phe1069Tyr)
n.88T>A
c.3317T>A (p.Phe1106Tyr)
c.3281T>A (p.Phe1094Tyr)
c.3239T>A (p.Phe1080Tyr)
c.3203T>A (p.Phe1068Tyr)
19g.7125300A>CCA403671003INSRc.3241T>G (p.Phe1081Val)
c.3205T>G (p.Phe1069Val)
n.87T>G
c.3316T>G (p.Phe1106Val)
c.3280T>G (p.Phe1094Val)
c.3238T>G (p.Phe1080Val)
c.3202T>G (p.Phe1068Val)
19g.7125300A>GCA403671004INSRc.3241T>C (p.Phe1081Leu)
c.3205T>C (p.Phe1069Leu)
n.87T>C
c.3316T>C (p.Phe1106Leu)
c.3280T>C (p.Phe1094Leu)
c.3238T>C (p.Phe1080Leu)
c.3202T>C (p.Phe1068Leu)
19g.7125300A>TCA403671005INSRc.3241T>A (p.Phe1081Ile)
c.3205T>A (p.Phe1069Ile)
n.87T>A
c.3316T>A (p.Phe1106Ile)
c.3280T>A (p.Phe1094Ile)
c.3238T>A (p.Phe1080Ile)
c.3202T>A (p.Phe1068Ile)
19g.7125301G>ACA505400172INSRc.3240C>T (p.Gly1080=)
c.3204C>T (p.Gly1068=)
n.86C>T
c.3315C>T (p.Gly1105=)
c.3279C>T (p.Gly1093=)
c.3237C>T (p.Gly1079=)
c.3201C>T (p.Gly1067=)
gnomAD v4
19g.7125301G>CCA505400171INSRc.3240C>G (p.Gly1080=)
c.3204C>G (p.Gly1068=)
n.86C>G
c.3315C>G (p.Gly1105=)
c.3279C>G (p.Gly1093=)
c.3237C>G (p.Gly1079=)
c.3201C>G (p.Gly1067=)
19g.7125301G>TCA505400170INSRc.3240C>A (p.Gly1080=)
c.3204C>A (p.Gly1068=)
n.86C>A
c.3315C>A (p.Gly1105=)
c.3279C>A (p.Gly1093=)
c.3237C>A (p.Gly1079=)
c.3201C>A (p.Gly1067=)
19g.7125302C>ACA403671007INSRc.3239G>T (p.Gly1080Val)
c.3203G>T (p.Gly1068Val)
n.85G>T
c.3314G>T (p.Gly1105Val)
c.3278G>T (p.Gly1093Val)
c.3236G>T (p.Gly1079Val)
c.3200G>T (p.Gly1067Val)
19g.7125302C=CA2320767910INSRc.3239G= (p.Gly1080=)
c.3203G= (p.Gly1068=)
n.85G=
c.3314G= (p.Gly1105=)
c.3278G= (p.Gly1093=)
c.3236G= (p.Gly1079=)
c.3200G= (p.Gly1067=)
19g.7125302C>GCA403671006INSRc.3239G>C (p.Gly1080Ala)
c.3203G>C (p.Gly1068Ala)
n.85G>C
c.3314G>C (p.Gly1105Ala)
c.3278G>C (p.Gly1093Ala)
c.3236G>C (p.Gly1079Ala)
c.3200G>C (p.Gly1067Ala)
COSMIC COSMIC
19g.7125302C>TCA9135330INSRc.3239G>A (p.Gly1080Asp)
c.3203G>A (p.Gly1068Asp)
n.85G>A
c.3314G>A (p.Gly1105Asp)
c.3278G>A (p.Gly1093Asp)
c.3236G>A (p.Gly1079Asp)
c.3200G>A (p.Gly1067Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125303C>ACA403671008INSRc.3238G>T (p.Gly1080Cys)
c.3202G>T (p.Gly1068Cys)
n.84G>T
c.3313G>T (p.Gly1105Cys)
c.3277G>T (p.Gly1093Cys)
c.3235G>T (p.Gly1079Cys)
c.3199G>T (p.Gly1067Cys)
19g.7125303C>GCA403671009INSRc.3238G>C (p.Gly1080Arg)
c.3202G>C (p.Gly1068Arg)
n.84G>C
c.3313G>C (p.Gly1105Arg)
c.3277G>C (p.Gly1093Arg)
c.3235G>C (p.Gly1079Arg)
c.3199G>C (p.Gly1067Arg)
19g.7125303C>TCA403671010INSRc.3238G>A (p.Gly1080Ser)
c.3202G>A (p.Gly1068Ser)
n.84G>A
c.3313G>A (p.Gly1105Ser)
c.3277G>A (p.Gly1093Ser)
c.3235G>A (p.Gly1079Ser)
c.3199G>A (p.Gly1067Ser)
19g.7125304C>ACA403671011INSRc.3237G>T (p.Lys1079Asn)
c.3201G>T (p.Lys1067Asn)
n.83G>T
c.3312G>T (p.Lys1104Asn)
c.3276G>T (p.Lys1092Asn)
c.3234G>T (p.Lys1078Asn)
c.3198G>T (p.Lys1066Asn)
19g.7125304C>GCA403671012INSRc.3237G>C (p.Lys1079Asn)
c.3201G>C (p.Lys1067Asn)
n.83G>C
c.3312G>C (p.Lys1104Asn)
c.3276G>C (p.Lys1092Asn)
c.3234G>C (p.Lys1078Asn)
c.3198G>C (p.Lys1066Asn)
19g.7125304C>TCA505400173INSRc.3237G>A (p.Lys1079=)
c.3201G>A (p.Lys1067=)
n.83G>A
c.3312G>A (p.Lys1104=)
c.3276G>A (p.Lys1092=)
c.3234G>A (p.Lys1078=)
c.3198G>A (p.Lys1066=)
gnomAD v4
19g.7125305T>ACA403671013INSRc.3236A>T (p.Lys1079Met)
c.3200A>T (p.Lys1067Met)
n.82A>T
c.3311A>T (p.Lys1104Met)
c.3275A>T (p.Lys1092Met)
c.3233A>T (p.Lys1078Met)
c.3197A>T (p.Lys1066Met)
19g.7125305T>CCA403671015INSRc.3236A>G (p.Lys1079Arg)
c.3200A>G (p.Lys1067Arg)
n.82A>G
c.3311A>G (p.Lys1104Arg)
c.3275A>G (p.Lys1092Arg)
c.3233A>G (p.Lys1078Arg)
c.3197A>G (p.Lys1066Arg)
19g.7125305T>GCA403671014INSRc.3236A>C (p.Lys1079Thr)
c.3200A>C (p.Lys1067Thr)
n.82A>C
c.3311A>C (p.Lys1104Thr)
c.3275A>C (p.Lys1092Thr)
c.3233A>C (p.Lys1078Thr)
c.3197A>C (p.Lys1066Thr)
19g.7125306T>ACA403671016INSRc.3235A>T (p.Lys1079Ter)
c.3199A>T (p.Lys1067Ter)
n.81A>T
c.3310A>T (p.Lys1104Ter)
c.3274A>T (p.Lys1092Ter)
c.3232A>T (p.Lys1078Ter)
c.3196A>T (p.Lys1066Ter)
19g.7125306T>CCA403671017INSRc.3235A>G (p.Lys1079Glu)
c.3199A>G (p.Lys1067Glu)
n.81A>G
c.3310A>G (p.Lys1104Glu)
c.3274A>G (p.Lys1092Glu)
c.3232A>G (p.Lys1078Glu)
c.3196A>G (p.Lys1066Glu)
19g.7125306T>GCA403671018INSRc.3235A>C (p.Lys1079Gln)
c.3199A>C (p.Lys1067Gln)
n.81A>C
c.3310A>C (p.Lys1104Gln)
c.3274A>C (p.Lys1092Gln)
c.3232A>C (p.Lys1078Gln)
c.3196A>C (p.Lys1066Gln)
19g.7125307C>ACA403671019INSRc.3234G>T (p.Met1078Ile)
c.3198G>T (p.Met1066Ile)
n.80G>T
c.3309G>T (p.Met1103Ile)
c.3273G>T (p.Met1091Ile)
c.3231G>T (p.Met1077Ile)
c.3195G>T (p.Met1065Ile)
19g.7125307C>GCA403671020INSRc.3234G>C (p.Met1078Ile)
c.3198G>C (p.Met1066Ile)
n.80G>C
c.3309G>C (p.Met1103Ile)
c.3273G>C (p.Met1091Ile)
c.3231G>C (p.Met1077Ile)
c.3195G>C (p.Met1065Ile)
19g.7125307C>TCA403671021INSRc.3234G>A (p.Met1078Ile)
c.3198G>A (p.Met1066Ile)
n.80G>A
c.3309G>A (p.Met1103Ile)
c.3273G>A (p.Met1091Ile)
c.3231G>A (p.Met1077Ile)
c.3195G>A (p.Met1065Ile)
ClinVar dbSNP
19g.7125308A>CCA403671022INSRc.3233T>G (p.Met1078Arg)
c.3197T>G (p.Met1066Arg)
n.79T>G
c.3308T>G (p.Met1103Arg)
c.3272T>G (p.Met1091Arg)
c.3230T>G (p.Met1077Arg)
c.3194T>G (p.Met1065Arg)
19g.7125308A>GCA403671023INSRc.3233T>C (p.Met1078Thr)
c.3197T>C (p.Met1066Thr)
n.79T>C
c.3308T>C (p.Met1103Thr)
c.3272T>C (p.Met1091Thr)
c.3230T>C (p.Met1077Thr)
c.3194T>C (p.Met1065Thr)
19g.7125308A>TCA403671024INSRc.3233T>A (p.Met1078Lys)
c.3197T>A (p.Met1066Lys)
n.79T>A
c.3308T>A (p.Met1103Lys)
c.3272T>A (p.Met1091Lys)
c.3230T>A (p.Met1077Lys)
c.3194T>A (p.Met1065Lys)
19g.7125309T>ACA403671025INSRc.3232A>T (p.Met1078Leu)
c.3196A>T (p.Met1066Leu)
n.78A>T
c.3307A>T (p.Met1103Leu)
c.3271A>T (p.Met1091Leu)
c.3229A>T (p.Met1077Leu)
c.3193A>T (p.Met1065Leu)
19g.7125309T>CCA403671026INSRc.3232A>G (p.Met1078Val)
c.3196A>G (p.Met1066Val)
n.78A>G
c.3307A>G (p.Met1103Val)
c.3271A>G (p.Met1091Val)
c.3229A>G (p.Met1077Val)
c.3193A>G (p.Met1065Val)
19g.7125309T>GCA403671027INSRc.3232A>C (p.Met1078Leu)
c.3196A>C (p.Met1066Leu)
n.78A>C
c.3307A>C (p.Met1103Leu)
c.3271A>C (p.Met1091Leu)
c.3229A>C (p.Met1077Leu)
c.3193A>C (p.Met1065Leu)
19g.7125310G>ACA505400176INSRc.3231C>T (p.Val1077=)
c.3195C>T (p.Val1065=)
n.77C>T
c.3306C>T (p.Val1102=)
c.3270C>T (p.Val1090=)
c.3228C>T (p.Val1076=)
c.3192C>T (p.Val1064=)
dbSNP gnomAD v4
19g.7125310G>CCA505400175INSRc.3231C>G (p.Val1077=)
c.3195C>G (p.Val1065=)
n.77C>G
c.3306C>G (p.Val1102=)
c.3270C>G (p.Val1090=)
c.3228C>G (p.Val1076=)
c.3192C>G (p.Val1064=)
19g.7125310G=CA2320767911INSRc.3231C= (p.Val1077=)
c.3195C= (p.Val1065=)
n.77C=
c.3306C= (p.Val1102=)
c.3270C= (p.Val1090=)
c.3228C= (p.Val1076=)
c.3192C= (p.Val1064=)
19g.7125310G>TCA505400174INSRc.3231C>A (p.Val1077=)
c.3195C>A (p.Val1065=)
n.77C>A
c.3306C>A (p.Val1102=)
c.3270C>A (p.Val1090=)
c.3228C>A (p.Val1076=)
c.3192C>A (p.Val1064=)
gnomAD v4
19g.7125311A>CCA403671029INSRc.3230T>G (p.Val1077Gly)
c.3194T>G (p.Val1065Gly)
n.76T>G
c.3305T>G (p.Val1102Gly)
c.3269T>G (p.Val1090Gly)
c.3227T>G (p.Val1076Gly)
c.3191T>G (p.Val1064Gly)
19g.7125311A>GCA403671030INSRc.3230T>C (p.Val1077Ala)
c.3194T>C (p.Val1065Ala)
n.76T>C
c.3305T>C (p.Val1102Ala)
c.3269T>C (p.Val1090Ala)
c.3227T>C (p.Val1076Ala)
c.3191T>C (p.Val1064Ala)
19g.7125311A>TCA403671028INSRc.3230T>A (p.Val1077Asp)
c.3194T>A (p.Val1065Asp)
n.76T>A
c.3305T>A (p.Val1102Asp)
c.3269T>A (p.Val1090Asp)
c.3227T>A (p.Val1076Asp)
c.3191T>A (p.Val1064Asp)
19g.7125312C>ACA403671031INSRc.3229G>T (p.Val1077Phe)
c.3193G>T (p.Val1065Phe)
n.75G>T
c.3304G>T (p.Val1102Phe)
c.3268G>T (p.Val1090Phe)
c.3226G>T (p.Val1076Phe)
c.3190G>T (p.Val1064Phe)
19g.7125312C>GCA403671032INSRc.3229G>C (p.Val1077Leu)
c.3193G>C (p.Val1065Leu)
n.75G>C
c.3304G>C (p.Val1102Leu)
c.3268G>C (p.Val1090Leu)
c.3226G>C (p.Val1076Leu)
c.3190G>C (p.Val1064Leu)
19g.7125312C>TCA403671033INSRc.3229G>A (p.Val1077Ile)
c.3193G>A (p.Val1065Ile)
n.75G>A
c.3304G>A (p.Val1102Ile)
c.3268G>A (p.Val1090Ile)
c.3226G>A (p.Val1076Ile)
c.3190G>A (p.Val1064Ile)
19g.7125315_7125339delCA645613085INSRc.3205_3229del (p.Ile1069SerfsTer2)
c.3169_3193del (p.Ile1057SerfsTer2)
n.51_75del
c.3280_3304del (p.Ile1094SerfsTer2)
c.3244_3268del (p.Ile1082SerfsTer2)
c.3202_3226del (p.Ile1068SerfsTer2)
c.3166_3190del (p.Ile1056SerfsTer2)
COSMIC COSMIC
19g.7125313C>ACA505400178INSRc.3228G>T (p.Ser1076=)
c.3192G>T (p.Ser1064=)
n.74G>T
c.3303G>T (p.Ser1101=)
c.3267G>T (p.Ser1089=)
c.3225G>T (p.Ser1075=)
c.3189G>T (p.Ser1063=)
dbSNP gnomAD v2 gnomAD v4
19g.7125313C=CA2320767912INSRc.3228G= (p.Ser1076=)
c.3192G= (p.Ser1064=)
n.74G=
c.3303G= (p.Ser1101=)
c.3267G= (p.Ser1089=)
c.3225G= (p.Ser1075=)
c.3189G= (p.Ser1063=)
19g.7125313C>GCA505400177INSRc.3228G>C (p.Ser1076=)
c.3192G>C (p.Ser1064=)
n.74G>C
c.3303G>C (p.Ser1101=)
c.3267G>C (p.Ser1089=)
c.3225G>C (p.Ser1075=)
c.3189G>C (p.Ser1063=)
gnomAD v4
19g.7125313C>TCA9135331INSRc.3228G>A (p.Ser1076=)
c.3192G>A (p.Ser1064=)
n.74G>A
c.3303G>A (p.Ser1101=)
c.3267G>A (p.Ser1089=)
c.3225G>A (p.Ser1075=)
c.3189G>A (p.Ser1063=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125314G>ACA403671034INSRc.3227C>T (p.Ser1076Leu)
c.3191C>T (p.Ser1064Leu)
n.73C>T
c.3302C>T (p.Ser1101Leu)
c.3266C>T (p.Ser1089Leu)
c.3224C>T (p.Ser1075Leu)
c.3188C>T (p.Ser1063Leu)
dbSNP gnomAD v2 gnomAD v4
19g.7125314G>CCA403671035INSRc.3227C>G (p.Ser1076Trp)
c.3191C>G (p.Ser1064Trp)
n.73C>G
c.3302C>G (p.Ser1101Trp)
c.3266C>G (p.Ser1089Trp)
c.3224C>G (p.Ser1075Trp)
c.3188C>G (p.Ser1063Trp)
19g.7125314G=CA2320767913INSRc.3227C= (p.Ser1076=)
c.3191C= (p.Ser1064=)
n.73C=
c.3302C= (p.Ser1101=)
c.3266C= (p.Ser1089=)
c.3224C= (p.Ser1075=)
c.3188C= (p.Ser1063=)
19g.7125314G>TCA403671036INSRc.3227C>A (p.Ser1076Ter)
c.3191C>A (p.Ser1064Ter)
n.73C>A
c.3302C>A (p.Ser1101Ter)
c.3266C>A (p.Ser1089Ter)
c.3224C>A (p.Ser1075Ter)
c.3188C>A (p.Ser1063Ter)
19g.7125315A>CCA403671037INSRc.3226T>G (p.Ser1076Ala)
c.3190T>G (p.Ser1064Ala)
n.72T>G
c.3301T>G (p.Ser1101Ala)
c.3265T>G (p.Ser1089Ala)
c.3223T>G (p.Ser1075Ala)
c.3187T>G (p.Ser1063Ala)
19g.7125315A>GCA403671038INSRc.3226T>C (p.Ser1076Pro)
c.3190T>C (p.Ser1064Pro)
n.72T>C
c.3301T>C (p.Ser1101Pro)
c.3265T>C (p.Ser1089Pro)
c.3223T>C (p.Ser1075Pro)
c.3187T>C (p.Ser1063Pro)
19g.7125315A>TCA403671039INSRc.3226T>A (p.Ser1076Thr)
c.3190T>A (p.Ser1064Thr)
n.72T>A
c.3301T>A (p.Ser1101Thr)
c.3265T>A (p.Ser1089Thr)
c.3223T>A (p.Ser1075Thr)
c.3187T>A (p.Ser1063Thr)
19g.7125316G>ACA505400181INSRc.3225C>T (p.Ala1075=)
c.3189C>T (p.Ala1063=)
n.71C>T
c.3300C>T (p.Ala1100=)
c.3264C>T (p.Ala1088=)
c.3222C>T (p.Ala1074=)
c.3186C>T (p.Ala1062=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7125316G>CCA505400179INSRc.3225C>G (p.Ala1075=)
c.3189C>G (p.Ala1063=)
n.71C>G
c.3300C>G (p.Ala1100=)
c.3264C>G (p.Ala1088=)
c.3222C>G (p.Ala1074=)
c.3186C>G (p.Ala1062=)
19g.7125316G=CA2320767914INSRc.3225C= (p.Ala1075=)
c.3189C= (p.Ala1063=)
n.71C=
c.3300C= (p.Ala1100=)
c.3264C= (p.Ala1088=)
c.3222C= (p.Ala1074=)
c.3186C= (p.Ala1062=)
19g.7125316G>TCA505400180INSRc.3225C>A (p.Ala1075=)
c.3189C>A (p.Ala1063=)
n.71C>A
c.3300C>A (p.Ala1100=)
c.3264C>A (p.Ala1088=)
c.3222C>A (p.Ala1074=)
c.3186C>A (p.Ala1062=)
19g.7125317G>ACA403671040INSRc.3224C>T (p.Ala1075Val)
c.3188C>T (p.Ala1063Val)
n.70C>T
c.3299C>T (p.Ala1100Val)
c.3263C>T (p.Ala1088Val)
c.3221C>T (p.Ala1074Val)
c.3185C>T (p.Ala1062Val)
19g.7125317G>CCA403671041INSRc.3224C>G (p.Ala1075Gly)
c.3188C>G (p.Ala1063Gly)
n.70C>G
c.3299C>G (p.Ala1100Gly)
c.3263C>G (p.Ala1088Gly)
c.3221C>G (p.Ala1074Gly)
c.3185C>G (p.Ala1062Gly)
19g.7125317G>TCA403671042INSRc.3224C>A (p.Ala1075Asp)
c.3188C>A (p.Ala1063Asp)
n.70C>A
c.3299C>A (p.Ala1100Asp)
c.3263C>A (p.Ala1088Asp)
c.3221C>A (p.Ala1074Asp)
c.3185C>A (p.Ala1062Asp)
19g.7125318C>ACA403671045INSRc.3223G>T (p.Ala1075Ser)
c.3187G>T (p.Ala1063Ser)
n.69G>T
c.3298G>T (p.Ala1100Ser)
c.3262G>T (p.Ala1088Ser)
c.3220G>T (p.Ala1074Ser)
c.3184G>T (p.Ala1062Ser)
19g.7125318C>GCA403671044INSRc.3223G>C (p.Ala1075Pro)
c.3187G>C (p.Ala1063Pro)
n.69G>C
c.3298G>C (p.Ala1100Pro)
c.3262G>C (p.Ala1088Pro)
c.3220G>C (p.Ala1074Pro)
c.3184G>C (p.Ala1062Pro)
19g.7125318C>TCA403671043INSRc.3223G>A (p.Ala1075Thr)
c.3187G>A (p.Ala1063Thr)
n.69G>A
c.3298G>A (p.Ala1100Thr)
c.3262G>A (p.Ala1088Thr)
c.3220G>A (p.Ala1074Thr)
c.3184G>A (p.Ala1062Thr)
gnomAD v4
19g.7125319C>ACA403671046INSRc.3222G>T (p.Glu1074Asp)
c.3186G>T (p.Glu1062Asp)
n.68G>T
c.3297G>T (p.Glu1099Asp)
c.3261G>T (p.Glu1087Asp)
c.3219G>T (p.Glu1073Asp)
c.3183G>T (p.Glu1061Asp)
19g.7125319C=CA2320767915INSRc.3222G= (p.Glu1074=)
c.3186G= (p.Glu1062=)
n.68G=
c.3297G= (p.Glu1099=)
c.3261G= (p.Glu1087=)
c.3219G= (p.Glu1073=)
c.3183G= (p.Glu1061=)
19g.7125319C>GCA403671047INSRc.3222G>C (p.Glu1074Asp)
c.3186G>C (p.Glu1062Asp)
n.68G>C
c.3297G>C (p.Glu1099Asp)
c.3261G>C (p.Glu1087Asp)
c.3219G>C (p.Glu1073Asp)
c.3183G>C (p.Glu1061Asp)
19g.7125319C>TCA505400182INSRc.3222G>A (p.Glu1074=)
c.3186G>A (p.Glu1062=)
n.68G>A
c.3297G>A (p.Glu1099=)
c.3261G>A (p.Glu1087=)
c.3219G>A (p.Glu1073=)
c.3183G>A (p.Glu1061=)
dbSNP gnomAD v2 gnomAD v4
19g.7125319_7125321delinsTTTCA2695228018INSRc.3220_3222delinsAAA (p.Glu1074Lys)
c.3184_3186delinsAAA (p.Glu1062Lys)
n.66_68delinsAAA
c.3295_3297delinsAAA (p.Glu1099Lys)
c.3259_3261delinsAAA (p.Glu1087Lys)
c.3217_3219delinsAAA (p.Glu1073Lys)
c.3181_3183delinsAAA (p.Glu1061Lys)
19g.7125320T>ACA403671048INSRc.3221A>T (p.Glu1074Val)
c.3185A>T (p.Glu1062Val)
n.67A>T
c.3296A>T (p.Glu1099Val)
c.3260A>T (p.Glu1087Val)
c.3218A>T (p.Glu1073Val)
c.3182A>T (p.Glu1061Val)
19g.7125320T>CCA403671049INSRc.3221A>G (p.Glu1074Gly)
c.3185A>G (p.Glu1062Gly)
n.67A>G
c.3296A>G (p.Glu1099Gly)
c.3260A>G (p.Glu1087Gly)
c.3218A>G (p.Glu1073Gly)
c.3182A>G (p.Glu1061Gly)
19g.7125320T>GCA403671050INSRc.3221A>C (p.Glu1074Ala)
c.3185A>C (p.Glu1062Ala)
n.67A>C
c.3296A>C (p.Glu1099Ala)
c.3260A>C (p.Glu1087Ala)
c.3218A>C (p.Glu1073Ala)
c.3182A>C (p.Glu1061Ala)
19g.7125321C>ACA403671051INSRc.3220G>T (p.Glu1074Ter)
c.3184G>T (p.Glu1062Ter)
n.66G>T
c.3295G>T (p.Glu1099Ter)
c.3259G>T (p.Glu1087Ter)
c.3217G>T (p.Glu1073Ter)
c.3181G>T (p.Glu1061Ter)
COSMIC COSMIC
19g.7125321C>GCA403671052INSRc.3220G>C (p.Glu1074Gln)
c.3184G>C (p.Glu1062Gln)
n.66G>C
c.3295G>C (p.Glu1099Gln)
c.3259G>C (p.Glu1087Gln)
c.3217G>C (p.Glu1073Gln)
c.3181G>C (p.Glu1061Gln)
19g.7125321C>TCA403671053INSRc.3220G>A (p.Glu1074Lys)
c.3184G>A (p.Glu1062Lys)
n.66G>A
c.3295G>A (p.Glu1099Lys)
c.3259G>A (p.Glu1087Lys)
c.3217G>A (p.Glu1073Lys)
c.3181G>A (p.Glu1061Lys)
19g.7125322A=CA2320767916INSRc.3219T= (p.Asn1073=)
c.3183T= (p.Asn1061=)
n.65T=
c.3294T= (p.Asn1098=)
c.3258T= (p.Asn1086=)
c.3216T= (p.Asn1072=)
c.3180T= (p.Asn1060=)
19g.7125322A>CCA403671054INSRc.3219T>G (p.Asn1073Lys)
c.3183T>G (p.Asn1061Lys)
n.65T>G
c.3294T>G (p.Asn1098Lys)
c.3258T>G (p.Asn1086Lys)
c.3216T>G (p.Asn1072Lys)
c.3180T>G (p.Asn1060Lys)
19g.7125322A>GCA9135332INSRc.3219T>C (p.Asn1073=)
c.3183T>C (p.Asn1061=)
n.65T>C
c.3294T>C (p.Asn1098=)
c.3258T>C (p.Asn1086=)
c.3216T>C (p.Asn1072=)
c.3180T>C (p.Asn1060=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125322A>TCA403671055INSRc.3219T>A (p.Asn1073Lys)
c.3183T>A (p.Asn1061Lys)
n.65T>A
c.3294T>A (p.Asn1098Lys)
c.3258T>A (p.Asn1086Lys)
c.3216T>A (p.Asn1072Lys)
c.3180T>A (p.Asn1060Lys)
19g.7125323T>ACA403671056INSRc.3218A>T (p.Asn1073Ile)
c.3182A>T (p.Asn1061Ile)
n.64A>T
c.3293A>T (p.Asn1098Ile)
c.3257A>T (p.Asn1086Ile)
c.3215A>T (p.Asn1072Ile)
c.3179A>T (p.Asn1060Ile)
19g.7125323T>CCA9135333INSRc.3218A>G (p.Asn1073Ser)
c.3182A>G (p.Asn1061Ser)
n.64A>G
c.3293A>G (p.Asn1098Ser)
c.3257A>G (p.Asn1086Ser)
c.3215A>G (p.Asn1072Ser)
c.3179A>G (p.Asn1060Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125323T>GCA403671057INSRc.3218A>C (p.Asn1073Thr)
c.3182A>C (p.Asn1061Thr)
n.64A>C
c.3293A>C (p.Asn1098Thr)
c.3257A>C (p.Asn1086Thr)
c.3215A>C (p.Asn1072Thr)
c.3179A>C (p.Asn1060Thr)
19g.7125323T=CA2320767917INSRc.3218A= (p.Asn1073=)
c.3182A= (p.Asn1061=)
n.64A=
c.3293A= (p.Asn1098=)
c.3257A= (p.Asn1086=)
c.3215A= (p.Asn1072=)
c.3179A= (p.Asn1060=)
19g.7125324T>ACA403671060INSRc.3217A>T (p.Asn1073Tyr)
c.3181A>T (p.Asn1061Tyr)
n.63A>T
c.3292A>T (p.Asn1098Tyr)
c.3256A>T (p.Asn1086Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3178A>T (p.Asn1060Tyr)
19g.7125324T>CCA403671059INSRc.3217A>G (p.Asn1073Asp)
c.3181A>G (p.Asn1061Asp)
n.63A>G
c.3292A>G (p.Asn1098Asp)
c.3256A>G (p.Asn1086Asp)
c.3214A>G (p.Asn1072Asp)
c.3178A>G (p.Asn1060Asp)
19g.7125324T>GCA403671058INSRc.3217A>C (p.Asn1073His)
c.3181A>C (p.Asn1061His)
n.63A>C
c.3292A>C (p.Asn1098His)
c.3256A>C (p.Asn1086His)
c.3214A>C (p.Asn1072His)
c.3178A>C (p.Asn1060His)
19g.7125325G>ACA505400185INSRc.3216C>T (p.Leu1072=)
c.3180C>T (p.Leu1060=)
n.62C>T
c.3291C>T (p.Leu1097=)
c.3255C>T (p.Leu1085=)
c.3213C>T (p.Leu1071=)
c.3177C>T (p.Leu1059=)
dbSNP gnomAD v3 gnomAD v4
19g.7125325G>CCA505400184INSRc.3216C>G (p.Leu1072=)
c.3180C>G (p.Leu1060=)
n.62C>G
c.3291C>G (p.Leu1097=)
c.3255C>G (p.Leu1085=)
c.3213C>G (p.Leu1071=)
c.3177C>G (p.Leu1059=)
19g.7125325G=CA2320767918INSRc.3216C= (p.Leu1072=)
c.3180C= (p.Leu1060=)
n.62C=
c.3291C= (p.Leu1097=)
c.3255C= (p.Leu1085=)
c.3213C= (p.Leu1071=)
c.3177C= (p.Leu1059=)
19g.7125325G>TCA505400183INSRc.3216C>A (p.Leu1072=)
c.3180C>A (p.Leu1060=)
n.62C>A
c.3291C>A (p.Leu1097=)
c.3255C>A (p.Leu1085=)
c.3213C>A (p.Leu1071=)
c.3177C>A (p.Leu1059=)
19g.7125326A>CCA403671061INSRc.3215T>G (p.Leu1072Arg)
c.3179T>G (p.Leu1060Arg)
n.61T>G
c.3290T>G (p.Leu1097Arg)
c.3254T>G (p.Leu1085Arg)
c.3212T>G (p.Leu1071Arg)
c.3176T>G (p.Leu1059Arg)
19g.7125326A>GCA403671062INSRc.3215T>C (p.Leu1072Pro)
c.3179T>C (p.Leu1060Pro)
n.61T>C
c.3290T>C (p.Leu1097Pro)
c.3254T>C (p.Leu1085Pro)
c.3212T>C (p.Leu1071Pro)
c.3176T>C (p.Leu1059Pro)
19g.7125326A>TCA403671063INSRc.3215T>A (p.Leu1072His)
c.3179T>A (p.Leu1060His)
n.61T>A
c.3290T>A (p.Leu1097His)
c.3254T>A (p.Leu1085His)
c.3212T>A (p.Leu1071His)
c.3176T>A (p.Leu1059His)
19g.7125327G>ACA403671064INSRc.3214C>T (p.Leu1072Phe)
c.3178C>T (p.Leu1060Phe)
n.60C>T
c.3289C>T (p.Leu1097Phe)
c.3253C>T (p.Leu1085Phe)
c.3211C>T (p.Leu1071Phe)
c.3175C>T (p.Leu1059Phe)
19g.7125327G>CCA403671065INSRc.3214C>G (p.Leu1072Val)
c.3178C>G (p.Leu1060Val)
n.60C>G
c.3289C>G (p.Leu1097Val)
c.3253C>G (p.Leu1085Val)
c.3211C>G (p.Leu1071Val)
c.3175C>G (p.Leu1059Val)
19g.7125327G>TCA403671066INSRc.3214C>A (p.Leu1072Ile)
c.3178C>A (p.Leu1060Ile)
n.60C>A
c.3289C>A (p.Leu1097Ile)
c.3253C>A (p.Leu1085Ile)
c.3211C>A (p.Leu1071Ile)
c.3175C>A (p.Leu1059Ile)
19g.7125328G>ACA505400186INSRc.3213C>T (p.Phe1071=)
c.3177C>T (p.Phe1059=)
n.59C>T
c.3288C>T (p.Phe1096=)
c.3252C>T (p.Phe1084=)
c.3210C>T (p.Phe1070=)
c.3174C>T (p.Phe1058=)
19g.7125328G>CCA403671067INSRc.3213C>G (p.Phe1071Leu)
c.3177C>G (p.Phe1059Leu)
n.59C>G
c.3288C>G (p.Phe1096Leu)
c.3252C>G (p.Phe1084Leu)
c.3210C>G (p.Phe1070Leu)
c.3174C>G (p.Phe1058Leu)
19g.7125328G>TCA403671068INSRc.3213C>A (p.Phe1071Leu)
c.3177C>A (p.Phe1059Leu)
n.59C>A
c.3288C>A (p.Phe1096Leu)
c.3252C>A (p.Phe1084Leu)
c.3210C>A (p.Phe1070Leu)
c.3174C>A (p.Phe1058Leu)
19g.7125329A>CCA403671069INSRc.3212T>G (p.Phe1071Cys)
c.3176T>G (p.Phe1059Cys)
n.58T>G
c.3287T>G (p.Phe1096Cys)
c.3251T>G (p.Phe1084Cys)
c.3209T>G (p.Phe1070Cys)
c.3173T>G (p.Phe1058Cys)
19g.7125329A>GCA403671070INSRc.3212T>C (p.Phe1071Ser)
c.3176T>C (p.Phe1059Ser)
n.58T>C
c.3287T>C (p.Phe1096Ser)
c.3251T>C (p.Phe1084Ser)
c.3209T>C (p.Phe1070Ser)
c.3173T>C (p.Phe1058Ser)
19g.7125329A>TCA403671071INSRc.3212T>A (p.Phe1071Tyr)
c.3176T>A (p.Phe1059Tyr)
n.58T>A
c.3287T>A (p.Phe1096Tyr)
c.3251T>A (p.Phe1084Tyr)
c.3209T>A (p.Phe1070Tyr)
c.3173T>A (p.Phe1058Tyr)
19g.7125330A>CCA403671072INSRc.3211T>G (p.Phe1071Val)
c.3175T>G (p.Phe1059Val)
n.57T>G
c.3286T>G (p.Phe1096Val)
c.3250T>G (p.Phe1084Val)
c.3208T>G (p.Phe1070Val)
c.3172T>G (p.Phe1058Val)
19g.7125330A>GCA403671073INSRc.3211T>C (p.Phe1071Leu)
c.3175T>C (p.Phe1059Leu)
n.57T>C
c.3286T>C (p.Phe1096Leu)
c.3250T>C (p.Phe1084Leu)
c.3208T>C (p.Phe1070Leu)
c.3172T>C (p.Phe1058Leu)
19g.7125330A>TCA403671074INSRc.3211T>A (p.Phe1071Ile)
c.3175T>A (p.Phe1059Ile)
n.57T>A
c.3286T>A (p.Phe1096Ile)
c.3250T>A (p.Phe1084Ile)
c.3208T>A (p.Phe1070Ile)
c.3172T>A (p.Phe1058Ile)
19g.7125331C>ACA403671076INSRc.3210G>T (p.Glu1070Asp)
c.3174G>T (p.Glu1058Asp)
n.56G>T
c.3285G>T (p.Glu1095Asp)
c.3249G>T (p.Glu1083Asp)
c.3207G>T (p.Glu1069Asp)
c.3171G>T (p.Glu1057Asp)
19g.7125331C>GCA403671075INSRc.3210G>C (p.Glu1070Asp)
c.3174G>C (p.Glu1058Asp)
n.56G>C
c.3285G>C (p.Glu1095Asp)
c.3249G>C (p.Glu1083Asp)
c.3207G>C (p.Glu1069Asp)
c.3171G>C (p.Glu1057Asp)
19g.7125331C>TCA505400187INSRc.3210G>A (p.Glu1070=)
c.3174G>A (p.Glu1058=)
n.56G>A
c.3285G>A (p.Glu1095=)
c.3249G>A (p.Glu1083=)
c.3207G>A (p.Glu1069=)
c.3171G>A (p.Glu1057=)
gnomAD v4
19g.7125332T>ACA403671077INSRc.3209A>T (p.Glu1070Val)
c.3173A>T (p.Glu1058Val)
n.55A>T
c.3284A>T (p.Glu1095Val)
c.3248A>T (p.Glu1083Val)
c.3206A>T (p.Glu1069Val)
c.3170A>T (p.Glu1057Val)
19g.7125332T>CCA403671078INSRc.3209A>G (p.Glu1070Gly)
c.3173A>G (p.Glu1058Gly)
n.55A>G
c.3284A>G (p.Glu1095Gly)
c.3248A>G (p.Glu1083Gly)
c.3206A>G (p.Glu1069Gly)
c.3170A>G (p.Glu1057Gly)
19g.7125332T>GCA403671079INSRc.3209A>C (p.Glu1070Ala)
c.3173A>C (p.Glu1058Ala)
n.55A>C
c.3284A>C (p.Glu1095Ala)
c.3248A>C (p.Glu1083Ala)
c.3206A>C (p.Glu1069Ala)
c.3170A>C (p.Glu1057Ala)
19g.7125332_7125333delinsTCCA2320767919INSRc.3208_3209delinsGA (p.Glu1070=)
c.3172_3173delinsGA (p.Glu1058=)
n.54_55delinsGA
c.3283_3284delinsGA (p.Glu1095=)
c.3247_3248delinsGA (p.Glu1083=)
c.3205_3206delinsGA (p.Glu1069=)
c.3169_3170delinsGA (p.Glu1057=)
19g.7125333delCA2320767920INSRc.3208del (p.Glu1070SerfsTer9)
c.3172del (p.Glu1058SerfsTer9)
n.54del
c.3283del (p.Glu1095SerfsTer9)
c.3247del (p.Glu1083SerfsTer9)
c.3205del (p.Glu1069SerfsTer9)
c.3169del (p.Glu1057SerfsTer9)
dbSNP
19g.7125333C>ACA403671080INSRc.3208G>T (p.Glu1070Ter)
c.3172G>T (p.Glu1058Ter)
n.54G>T
c.3283G>T (p.Glu1095Ter)
c.3247G>T (p.Glu1083Ter)
c.3205G>T (p.Glu1069Ter)
c.3169G>T (p.Glu1057Ter)
19g.7125333C>GCA403671081INSRc.3208G>C (p.Glu1070Gln)
c.3172G>C (p.Glu1058Gln)
n.54G>C
c.3283G>C (p.Glu1095Gln)
c.3247G>C (p.Glu1083Gln)
c.3205G>C (p.Glu1069Gln)
c.3169G>C (p.Glu1057Gln)
19g.7125333C>TCA403671082INSRc.3208G>A (p.Glu1070Lys)
c.3172G>A (p.Glu1058Lys)
n.54G>A
c.3283G>A (p.Glu1095Lys)
c.3247G>A (p.Glu1083Lys)
c.3205G>A (p.Glu1069Lys)
c.3169G>A (p.Glu1057Lys)
19g.7125334A>CCA403671083INSRc.3207T>G (p.Ile1069Met)
c.3171T>G (p.Ile1057Met)
n.53T>G
c.3282T>G (p.Ile1094Met)
c.3246T>G (p.Ile1082Met)
c.3204T>G (p.Ile1068Met)
c.3168T>G (p.Ile1056Met)
19g.7125334A>GCA505400189INSRc.3207T>C (p.Ile1069=)
c.3171T>C (p.Ile1057=)
n.53T>C
c.3282T>C (p.Ile1094=)
c.3246T>C (p.Ile1082=)
c.3204T>C (p.Ile1068=)
c.3168T>C (p.Ile1056=)
19g.7125334A>TCA505400188INSRc.3207T>A (p.Ile1069=)
c.3171T>A (p.Ile1057=)
n.53T>A
c.3282T>A (p.Ile1094=)
c.3246T>A (p.Ile1082=)
c.3204T>A (p.Ile1068=)
c.3168T>A (p.Ile1056=)
19g.7125335A=CA2320767921INSRc.3206T= (p.Ile1069=)
c.3170T= (p.Ile1057=)
n.52T=
c.3281T= (p.Ile1094=)
c.3245T= (p.Ile1082=)
c.3203T= (p.Ile1068=)
c.3167T= (p.Ile1056=)
19g.7125335A>CCA403671084INSRc.3206T>G (p.Ile1069Ser)
c.3170T>G (p.Ile1057Ser)
n.52T>G
c.3281T>G (p.Ile1094Ser)
c.3245T>G (p.Ile1082Ser)
c.3203T>G (p.Ile1068Ser)
c.3167T>G (p.Ile1056Ser)
19g.7125335A>GCA9135334INSRc.3206T>C (p.Ile1069Thr)
c.3170T>C (p.Ile1057Thr)
n.52T>C
c.3281T>C (p.Ile1094Thr)
c.3245T>C (p.Ile1082Thr)
c.3203T>C (p.Ile1068Thr)
c.3167T>C (p.Ile1056Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125335A>TCA403671085INSRc.3206T>A (p.Ile1069Asn)
c.3170T>A (p.Ile1057Asn)
n.52T>A
c.3281T>A (p.Ile1094Asn)
c.3245T>A (p.Ile1082Asn)
c.3203T>A (p.Ile1068Asn)
c.3167T>A (p.Ile1056Asn)
19g.7125336T>ACA403671086INSRc.3205A>T (p.Ile1069Phe)
c.3169A>T (p.Ile1057Phe)
n.51A>T
c.3280A>T (p.Ile1094Phe)
c.3244A>T (p.Ile1082Phe)
c.3202A>T (p.Ile1068Phe)
c.3166A>T (p.Ile1056Phe)
19g.7125336T>CCA403671087INSRc.3205A>G (p.Ile1069Val)
c.3169A>G (p.Ile1057Val)
n.51A>G
c.3280A>G (p.Ile1094Val)
c.3244A>G (p.Ile1082Val)
c.3202A>G (p.Ile1068Val)
c.3166A>G (p.Ile1056Val)
19g.7125336T>GCA403671088INSRc.3205A>C (p.Ile1069Leu)
c.3169A>C (p.Ile1057Leu)
n.51A>C
c.3280A>C (p.Ile1094Leu)
c.3244A>C (p.Ile1082Leu)
c.3202A>C (p.Ile1068Leu)
c.3166A>C (p.Ile1056Leu)
19g.7125337C>ACA505400192INSRc.3204G>T (p.Arg1068=)
c.3168G>T (p.Arg1056=)
n.50G>T
c.3279G>T (p.Arg1093=)
c.3243G>T (p.Arg1081=)
c.3201G>T (p.Arg1067=)
c.3165G>T (p.Arg1055=)
dbSNP gnomAD v3 gnomAD v4
19g.7125337C=CA2320767922INSRc.3204G= (p.Arg1068=)
c.3168G= (p.Arg1056=)
n.50G=
c.3279G= (p.Arg1093=)
c.3243G= (p.Arg1081=)
c.3201G= (p.Arg1067=)
c.3165G= (p.Arg1055=)
19g.7125337C>GCA505400191INSRc.3204G>C (p.Arg1068=)
c.3168G>C (p.Arg1056=)
n.50G>C
c.3279G>C (p.Arg1093=)
c.3243G>C (p.Arg1081=)
c.3201G>C (p.Arg1067=)
c.3165G>C (p.Arg1055=)
gnomAD v4
19g.7125337C>TCA505400190INSRc.3204G>A (p.Arg1068=)
c.3168G>A (p.Arg1056=)
n.50G>A
c.3279G>A (p.Arg1093=)
c.3243G>A (p.Arg1081=)
c.3201G>A (p.Arg1067=)
c.3165G>A (p.Arg1055=)
19g.7125338C>ACA403671089INSRc.3203G>T (p.Arg1068Leu)
c.3167G>T (p.Arg1056Leu)
n.49G>T
c.3278G>T (p.Arg1093Leu)
c.3242G>T (p.Arg1081Leu)
c.3200G>T (p.Arg1067Leu)
c.3164G>T (p.Arg1055Leu)
19g.7125338C=CA2320767923INSRc.3203G= (p.Arg1068=)
c.3167G= (p.Arg1056=)
n.49G=
c.3278G= (p.Arg1093=)
c.3242G= (p.Arg1081=)
c.3200G= (p.Arg1067=)
c.3164G= (p.Arg1055=)
19g.7125338C>GCA403671090INSRc.3203G>C (p.Arg1068Pro)
c.3167G>C (p.Arg1056Pro)
n.49G>C
c.3278G>C (p.Arg1093Pro)
c.3242G>C (p.Arg1081Pro)
c.3200G>C (p.Arg1067Pro)
c.3164G>C (p.Arg1055Pro)
19g.7125338C>TCA9135335INSRc.3203G>A (p.Arg1068Gln)
c.3167G>A (p.Arg1056Gln)
n.49G>A
c.3278G>A (p.Arg1093Gln)
c.3242G>A (p.Arg1081Gln)
c.3200G>A (p.Arg1067Gln)
c.3164G>A (p.Arg1055Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7125339G>ACA403671091INSRc.3202C>T (p.Arg1068Trp)
c.3166C>T (p.Arg1056Trp)
n.48C>T
c.3277C>T (p.Arg1093Trp)
c.3241C>T (p.Arg1081Trp)
c.3199C>T (p.Arg1067Trp)
c.3163C>T (p.Arg1055Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7125339G>CCA403671092INSRc.3202C>G (p.Arg1068Gly)
c.3166C>G (p.Arg1056Gly)
n.48C>G
c.3277C>G (p.Arg1093Gly)
c.3241C>G (p.Arg1081Gly)
c.3199C>G (p.Arg1067Gly)
c.3163C>G (p.Arg1055Gly)
dbSNP gnomAD v2
19g.7125339G=CA2320767924INSRc.3202C= (p.Arg1068=)
c.3166C= (p.Arg1056=)
n.48C=
c.3277C= (p.Arg1093=)
c.3241C= (p.Arg1081=)
c.3199C= (p.Arg1067=)
c.3163C= (p.Arg1055=)
19g.7125339G>TCA9135336INSRc.3202C>A (p.Arg1068=)
c.3166C>A (p.Arg1056=)
n.48C>A
c.3277C>A (p.Arg1093=)
c.3241C>A (p.Arg1081=)
c.3199C>A (p.Arg1067=)
c.3163C>A (p.Arg1055=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7125340C>ACA403671093INSRc.3201G>T (p.Glu1067Asp)
c.3165G>T (p.Glu1055Asp)
n.47G>T
c.3276G>T (p.Glu1092Asp)
c.3240G>T (p.Glu1080Asp)
c.3198G>T (p.Glu1066Asp)
c.3162G>T (p.Glu1054Asp)
19g.7125340C>GCA403671094INSRc.3201G>C (p.Glu1067Asp)
c.3165G>C (p.Glu1055Asp)
n.47G>C
c.3276G>C (p.Glu1092Asp)
c.3240G>C (p.Glu1080Asp)
c.3198G>C (p.Glu1066Asp)
c.3162G>C (p.Glu1054Asp)
19g.7125340C>TCA505400193INSRc.3201G>A (p.Glu1067=)
c.3165G>A (p.Glu1055=)
n.47G>A
c.3276G>A (p.Glu1092=)
c.3240G>A (p.Glu1080=)
c.3198G>A (p.Glu1066=)
c.3162G>A (p.Glu1054=)
19g.7125341T>ACA403671095INSRc.3200A>T (p.Glu1067Val)
c.3164A>T (p.Glu1055Val)
n.46A>T
c.3275A>T (p.Glu1092Val)
c.3239A>T (p.Glu1080Val)
c.3197A>T (p.Glu1066Val)
c.3161A>T (p.Glu1054Val)
19g.7125341T>CCA403671096INSRc.3200A>G (p.Glu1067Gly)
c.3164A>G (p.Glu1055Gly)
n.46A>G
c.3275A>G (p.Glu1092Gly)
c.3239A>G (p.Glu1080Gly)
c.3197A>G (p.Glu1066Gly)
c.3161A>G (p.Glu1054Gly)
19g.7125341T>GCA403671097INSRc.3200A>C (p.Glu1067Ala)
c.3164A>C (p.Glu1055Ala)
n.46A>C
c.3275A>C (p.Glu1092Ala)
c.3239A>C (p.Glu1080Ala)
c.3197A>C (p.Glu1066Ala)
c.3161A>C (p.Glu1054Ala)
19g.7125342C>ACA403671098INSRc.3199G>T (p.Glu1067Ter)
c.3163G>T (p.Glu1055Ter)
n.45G>T
c.3274G>T (p.Glu1092Ter)
c.3238G>T (p.Glu1080Ter)
c.3196G>T (p.Glu1066Ter)
c.3160G>T (p.Glu1054Ter)
19g.7125342C>GCA403671099INSRc.3199G>C (p.Glu1067Gln)
c.3163G>C (p.Glu1055Gln)
n.45G>C
c.3274G>C (p.Glu1092Gln)
c.3238G>C (p.Glu1080Gln)
c.3196G>C (p.Glu1066Gln)
c.3160G>C (p.Glu1054Gln)
19g.7125342C>TCA403671100INSRc.3199G>A (p.Glu1067Lys)
c.3163G>A (p.Glu1055Lys)
n.45G>A
c.3274G>A (p.Glu1092Lys)
c.3238G>A (p.Glu1080Lys)
c.3196G>A (p.Glu1066Lys)
c.3160G>A (p.Glu1054Lys)
19g.7125343T>ACA505400196INSRc.3198A>T (p.Arg1066=)
c.3162A>T (p.Arg1054=)
n.44A>T
c.3273A>T (p.Arg1091=)
c.3237A>T (p.Arg1079=)
c.3195A>T (p.Arg1065=)
c.3159A>T (p.Arg1053=)
19g.7125343T>CCA505400195INSRc.3198A>G (p.Arg1066=)
c.3162A>G (p.Arg1054=)
n.44A>G
c.3273A>G (p.Arg1091=)
c.3237A>G (p.Arg1079=)
c.3195A>G (p.Arg1065=)
c.3159A>G (p.Arg1053=)
19g.7125343T>GCA505400194INSRc.3198A>C (p.Arg1066=)
c.3162A>C (p.Arg1054=)
n.44A>C
c.3273A>C (p.Arg1091=)
c.3237A>C (p.Arg1079=)
c.3195A>C (p.Arg1065=)
c.3159A>C (p.Arg1053=)
19g.7125344C>ACA403671101INSRc.3197G>T (p.Arg1066Leu)
c.3161G>T (p.Arg1054Leu)
n.43G>T
c.3272G>T (p.Arg1091Leu)
c.3236G>T (p.Arg1079Leu)
c.3194G>T (p.Arg1065Leu)
c.3158G>T (p.Arg1053Leu)
19g.7125344C=CA2320767925INSRc.3197G= (p.Arg1066=)
c.3161G= (p.Arg1054=)
n.43G=
c.3272G= (p.Arg1091=)
c.3236G= (p.Arg1079=)
c.3194G= (p.Arg1065=)
c.3158G= (p.Arg1053=)
19g.7125344C>GCA403671102INSRc.3197G>C (p.Arg1066Pro)
c.3161G>C (p.Arg1054Pro)
n.43G>C
c.3272G>C (p.Arg1091Pro)
c.3236G>C (p.Arg1079Pro)
c.3194G>C (p.Arg1065Pro)
c.3158G>C (p.Arg1053Pro)
19g.7125344C>TCA9135337INSRc.3197G>A (p.Arg1066Gln)
c.3161G>A (p.Arg1054Gln)
n.43G>A
c.3272G>A (p.Arg1091Gln)
c.3236G>A (p.Arg1079Gln)
c.3194G>A (p.Arg1065Gln)
c.3158G>A (p.Arg1053Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched