Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28141431C>A | CA391380782 | HERC2 | c.12015+1G>T (n.12015+1G>T) c.3726+1G>T (n.3726+1G>T) c.11901+1G>T (n.11901+1G>T) c.12000+1G>T (n.12000+1G>T) c.11757+1G>T (n.11757+1G>T) c.11532+1G>T (n.11532+1G>T) c.9531+1G>T (n.9531+1G>T) c.8760+1G>T (n.8760+1G>T) c.6132+1G>T (n.6132+1G>T) c.5181+1G>T (n.5181+1G>T) | |
15 | g.28141431C>G | CA391380784 | HERC2 | c.12015+1G>C (n.12015+1G>C) c.3726+1G>C (n.3726+1G>C) c.11901+1G>C (n.11901+1G>C) c.12000+1G>C (n.12000+1G>C) c.11757+1G>C (n.11757+1G>C) c.11532+1G>C (n.11532+1G>C) c.9531+1G>C (n.9531+1G>C) c.8760+1G>C (n.8760+1G>C) c.6132+1G>C (n.6132+1G>C) c.5181+1G>C (n.5181+1G>C) | |
15 | g.28141431C>T | CA391380787 | HERC2 | c.12015+1G>A (n.12015+1G>A) c.3726+1G>A (n.3726+1G>A) c.11901+1G>A (n.11901+1G>A) c.12000+1G>A (n.12000+1G>A) c.11757+1G>A (n.11757+1G>A) c.11532+1G>A (n.11532+1G>A) c.9531+1G>A (n.9531+1G>A) c.8760+1G>A (n.8760+1G>A) c.6132+1G>A (n.6132+1G>A) c.5181+1G>A (n.5181+1G>A) | |
15 | g.28141432C>A | CA391380790 | HERC2 | c.12015G>T (p.Lys4005Asn) c.3726G>T (p.Lys1242Asn) c.11901G>T (p.Lys3967Asn) c.12000G>T (p.Lys4000Asn) c.11757G>T (p.Lys3919Asn) c.11532G>T (p.Lys3844Asn) c.9531G>T (p.Lys3177Asn) c.8760G>T (p.Lys2920Asn) c.6132G>T (p.Lys2044Asn) c.5181G>T (p.Lys1727Asn) | |
15 | g.28141432C>G | CA391380793 | HERC2 | c.12015G>C (p.Lys4005Asn) c.3726G>C (p.Lys1242Asn) c.11901G>C (p.Lys3967Asn) c.12000G>C (p.Lys4000Asn) c.11757G>C (p.Lys3919Asn) c.11532G>C (p.Lys3844Asn) c.9531G>C (p.Lys3177Asn) c.8760G>C (p.Lys2920Asn) c.6132G>C (p.Lys2044Asn) c.5181G>C (p.Lys1727Asn) | |
15 | g.28141432C>T | CA489234628 | HERC2 | c.12015G>A (p.Lys4005=) c.3726G>A (p.Lys1242=) c.11901G>A (p.Lys3967=) c.12000G>A (p.Lys4000=) c.11757G>A (p.Lys3919=) c.11532G>A (p.Lys3844=) c.9531G>A (p.Lys3177=) c.8760G>A (p.Lys2920=) c.6132G>A (p.Lys2044=) c.5181G>A (p.Lys1727=) | |
15 | g.28141433T>A | CA391380797 | HERC2 | c.12014A>T (p.Lys4005Met) c.3725A>T (p.Lys1242Met) c.11900A>T (p.Lys3967Met) c.11999A>T (p.Lys4000Met) c.11756A>T (p.Lys3919Met) c.11531A>T (p.Lys3844Met) c.9530A>T (p.Lys3177Met) c.8759A>T (p.Lys2920Met) c.6131A>T (p.Lys2044Met) c.5180A>T (p.Lys1727Met) | |
15 | g.28141433T>C | CA391380799 | HERC2 | c.12014A>G (p.Lys4005Arg) c.3725A>G (p.Lys1242Arg) c.11900A>G (p.Lys3967Arg) c.11999A>G (p.Lys4000Arg) c.11756A>G (p.Lys3919Arg) c.11531A>G (p.Lys3844Arg) c.9530A>G (p.Lys3177Arg) c.8759A>G (p.Lys2920Arg) c.6131A>G (p.Lys2044Arg) c.5180A>G (p.Lys1727Arg) | |
15 | g.28141433T>G | CA391380802 | HERC2 | c.12014A>C (p.Lys4005Thr) c.3725A>C (p.Lys1242Thr) c.11900A>C (p.Lys3967Thr) c.11999A>C (p.Lys4000Thr) c.11756A>C (p.Lys3919Thr) c.11531A>C (p.Lys3844Thr) c.9530A>C (p.Lys3177Thr) c.8759A>C (p.Lys2920Thr) c.6131A>C (p.Lys2044Thr) c.5180A>C (p.Lys1727Thr) | ClinVar |
15 | g.28141434T>A | CA391380805 | HERC2 | c.12013A>T (p.Lys4005Ter) c.3724A>T (p.Lys1242Ter) c.11899A>T (p.Lys3967Ter) c.11998A>T (p.Lys4000Ter) c.11755A>T (p.Lys3919Ter) c.11530A>T (p.Lys3844Ter) c.9529A>T (p.Lys3177Ter) c.8758A>T (p.Lys2920Ter) c.6130A>T (p.Lys2044Ter) c.5179A>T (p.Lys1727Ter) | |
15 | g.28141434T>C | CA391380808 | HERC2 | c.12013A>G (p.Lys4005Glu) c.3724A>G (p.Lys1242Glu) c.11899A>G (p.Lys3967Glu) c.11998A>G (p.Lys4000Glu) c.11755A>G (p.Lys3919Glu) c.11530A>G (p.Lys3844Glu) c.9529A>G (p.Lys3177Glu) c.8758A>G (p.Lys2920Glu) c.6130A>G (p.Lys2044Glu) c.5179A>G (p.Lys1727Glu) | |
15 | g.28141434T>G | CA391380810 | HERC2 | c.12013A>C (p.Lys4005Gln) c.3724A>C (p.Lys1242Gln) c.11899A>C (p.Lys3967Gln) c.11998A>C (p.Lys4000Gln) c.11755A>C (p.Lys3919Gln) c.11530A>C (p.Lys3844Gln) c.9529A>C (p.Lys3177Gln) c.8758A>C (p.Lys2920Gln) c.6130A>C (p.Lys2044Gln) c.5179A>C (p.Lys1727Gln) | |
15 | g.28141435C>A | CA489234631 | HERC2 | c.12012G>T (p.Gly4004=) c.3723G>T (p.Gly1241=) c.11898G>T (p.Gly3966=) c.11997G>T (p.Gly3999=) c.11754G>T (p.Gly3918=) c.11529G>T (p.Gly3843=) c.9528G>T (p.Gly3176=) c.8757G>T (p.Gly2919=) c.6129G>T (p.Gly2043=) c.5178G>T (p.Gly1726=) | |
15 | g.28141435C= | CA2166479813 | HERC2 | c.12012G= (p.Gly4004=) c.3723G= (p.Gly1241=) c.11898G= (p.Gly3966=) c.11997G= (p.Gly3999=) c.11754G= (p.Gly3918=) c.11529G= (p.Gly3843=) c.9528G= (p.Gly3176=) c.8757G= (p.Gly2919=) c.6129G= (p.Gly2043=) c.5178G= (p.Gly1726=) | |
15 | g.28141435C>G | CA489234632 | HERC2 | c.12012G>C (p.Gly4004=) c.3723G>C (p.Gly1241=) c.11898G>C (p.Gly3966=) c.11997G>C (p.Gly3999=) c.11754G>C (p.Gly3918=) c.11529G>C (p.Gly3843=) c.9528G>C (p.Gly3176=) c.8757G>C (p.Gly2919=) c.6129G>C (p.Gly2043=) c.5178G>C (p.Gly1726=) | |
15 | g.28141435C>T | CA489234633 | HERC2 | c.12012G>A (p.Gly4004=) c.3723G>A (p.Gly1241=) c.11898G>A (p.Gly3966=) c.11997G>A (p.Gly3999=) c.11754G>A (p.Gly3918=) c.11529G>A (p.Gly3843=) c.9528G>A (p.Gly3176=) c.8757G>A (p.Gly2919=) c.6129G>A (p.Gly2043=) c.5178G>A (p.Gly1726=) | dbSNP |
15 | g.28141436C>A | CA391380815 | HERC2 | c.12011G>T (p.Gly4004Val) c.3722G>T (p.Gly1241Val) c.11897G>T (p.Gly3966Val) c.11996G>T (p.Gly3999Val) c.11753G>T (p.Gly3918Val) c.11528G>T (p.Gly3843Val) c.9527G>T (p.Gly3176Val) c.8756G>T (p.Gly2919Val) c.6128G>T (p.Gly2043Val) c.5177G>T (p.Gly1726Val) | |
15 | g.28141436C>G | CA391380812 | HERC2 | c.12011G>C (p.Gly4004Ala) c.3722G>C (p.Gly1241Ala) c.11897G>C (p.Gly3966Ala) c.11996G>C (p.Gly3999Ala) c.11753G>C (p.Gly3918Ala) c.11528G>C (p.Gly3843Ala) c.9527G>C (p.Gly3176Ala) c.8756G>C (p.Gly2919Ala) c.6128G>C (p.Gly2043Ala) c.5177G>C (p.Gly1726Ala) | |
15 | g.28141436C>T | CA391380811 | HERC2 | c.12011G>A (p.Gly4004Glu) c.3722G>A (p.Gly1241Glu) c.11897G>A (p.Gly3966Glu) c.11996G>A (p.Gly3999Glu) c.11753G>A (p.Gly3918Glu) c.11528G>A (p.Gly3843Glu) c.9527G>A (p.Gly3176Glu) c.8756G>A (p.Gly2919Glu) c.6128G>A (p.Gly2043Glu) c.5177G>A (p.Gly1726Glu) | |
15 | g.28141437C>A | CA391380819 | HERC2 | c.12010G>T (p.Gly4004Trp) c.3721G>T (p.Gly1241Trp) c.11896G>T (p.Gly3966Trp) c.11995G>T (p.Gly3999Trp) c.11752G>T (p.Gly3918Trp) c.11527G>T (p.Gly3843Trp) c.9526G>T (p.Gly3176Trp) c.8755G>T (p.Gly2919Trp) c.6127G>T (p.Gly2043Trp) c.5176G>T (p.Gly1726Trp) | |
15 | g.28141437C>G | CA391380821 | HERC2 | c.12010G>C (p.Gly4004Arg) c.3721G>C (p.Gly1241Arg) c.11896G>C (p.Gly3966Arg) c.11995G>C (p.Gly3999Arg) c.11752G>C (p.Gly3918Arg) c.11527G>C (p.Gly3843Arg) c.9526G>C (p.Gly3176Arg) c.8755G>C (p.Gly2919Arg) c.6127G>C (p.Gly2043Arg) c.5176G>C (p.Gly1726Arg) | |
15 | g.28141437C>T | CA391380822 | HERC2 | c.12010G>A (p.Gly4004Arg) c.3721G>A (p.Gly1241Arg) c.11896G>A (p.Gly3966Arg) c.11995G>A (p.Gly3999Arg) c.11752G>A (p.Gly3918Arg) c.11527G>A (p.Gly3843Arg) c.9526G>A (p.Gly3176Arg) c.8755G>A (p.Gly2919Arg) c.6127G>A (p.Gly2043Arg) c.5176G>A (p.Gly1726Arg) | COSMIC COSMIC |
15 | g.28141438A>C | CA391380825 | HERC2 | c.12009T>G (p.Asp4003Glu) c.3720T>G (p.Asp1240Glu) c.11895T>G (p.Asp3965Glu) c.11994T>G (p.Asp3998Glu) c.11751T>G (p.Asp3917Glu) c.11526T>G (p.Asp3842Glu) c.9525T>G (p.Asp3175Glu) c.8754T>G (p.Asp2918Glu) c.6126T>G (p.Asp2042Glu) c.5175T>G (p.Asp1725Glu) | |
15 | g.28141438A>G | CA489234636 | HERC2 | c.12009T>C (p.Asp4003=) c.3720T>C (p.Asp1240=) c.11895T>C (p.Asp3965=) c.11994T>C (p.Asp3998=) c.11751T>C (p.Asp3917=) c.11526T>C (p.Asp3842=) c.9525T>C (p.Asp3175=) c.8754T>C (p.Asp2918=) c.6126T>C (p.Asp2042=) c.5175T>C (p.Asp1725=) | |
15 | g.28141438A>T | CA391380827 | HERC2 | c.12009T>A (p.Asp4003Glu) c.3720T>A (p.Asp1240Glu) c.11895T>A (p.Asp3965Glu) c.11994T>A (p.Asp3998Glu) c.11751T>A (p.Asp3917Glu) c.11526T>A (p.Asp3842Glu) c.9525T>A (p.Asp3175Glu) c.8754T>A (p.Asp2918Glu) c.6126T>A (p.Asp2042Glu) c.5175T>A (p.Asp1725Glu) | |
15 | g.28141439T>A | CA7440415 | HERC2 | c.12008A>T (p.Asp4003Val) c.3719A>T (p.Asp1240Val) c.11894A>T (p.Asp3965Val) c.11993A>T (p.Asp3998Val) c.11750A>T (p.Asp3917Val) c.11525A>T (p.Asp3842Val) c.9524A>T (p.Asp3175Val) c.8753A>T (p.Asp2918Val) c.6125A>T (p.Asp2042Val) c.5174A>T (p.Asp1725Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141439T>C | CA391380834 | HERC2 | c.12008A>G (p.Asp4003Gly) c.3719A>G (p.Asp1240Gly) c.11894A>G (p.Asp3965Gly) c.11993A>G (p.Asp3998Gly) c.11750A>G (p.Asp3917Gly) c.11525A>G (p.Asp3842Gly) c.9524A>G (p.Asp3175Gly) c.8753A>G (p.Asp2918Gly) c.6125A>G (p.Asp2042Gly) c.5174A>G (p.Asp1725Gly) | |
15 | g.28141439T>G | CA391380836 | HERC2 | c.12008A>C (p.Asp4003Ala) c.3719A>C (p.Asp1240Ala) c.11894A>C (p.Asp3965Ala) c.11993A>C (p.Asp3998Ala) c.11750A>C (p.Asp3917Ala) c.11525A>C (p.Asp3842Ala) c.9524A>C (p.Asp3175Ala) c.8753A>C (p.Asp2918Ala) c.6125A>C (p.Asp2042Ala) c.5174A>C (p.Asp1725Ala) | |
15 | g.28141439T= | CA2166479815 | HERC2 | c.12008A= (p.Asp4003=) c.3719A= (p.Asp1240=) c.11894A= (p.Asp3965=) c.11993A= (p.Asp3998=) c.11750A= (p.Asp3917=) c.11525A= (p.Asp3842=) c.9524A= (p.Asp3175=) c.8753A= (p.Asp2918=) c.6125A= (p.Asp2042=) c.5174A= (p.Asp1725=) | |
15 | g.28141440C>A | CA391380841 | HERC2 | c.12007G>T (p.Asp4003Tyr) c.3718G>T (p.Asp1240Tyr) c.11893G>T (p.Asp3965Tyr) c.11992G>T (p.Asp3998Tyr) c.11749G>T (p.Asp3917Tyr) c.11524G>T (p.Asp3842Tyr) c.9523G>T (p.Asp3175Tyr) c.8752G>T (p.Asp2918Tyr) c.6124G>T (p.Asp2042Tyr) c.5173G>T (p.Asp1725Tyr) | |
15 | g.28141440C>G | CA391380843 | HERC2 | c.12007G>C (p.Asp4003His) c.3718G>C (p.Asp1240His) c.11893G>C (p.Asp3965His) c.11992G>C (p.Asp3998His) c.11749G>C (p.Asp3917His) c.11524G>C (p.Asp3842His) c.9523G>C (p.Asp3175His) c.8752G>C (p.Asp2918His) c.6124G>C (p.Asp2042His) c.5173G>C (p.Asp1725His) | |
15 | g.28141440C>T | CA391380846 | HERC2 | c.12007G>A (p.Asp4003Asn) c.3718G>A (p.Asp1240Asn) c.11893G>A (p.Asp3965Asn) c.11992G>A (p.Asp3998Asn) c.11749G>A (p.Asp3917Asn) c.11524G>A (p.Asp3842Asn) c.9523G>A (p.Asp3175Asn) c.8752G>A (p.Asp2918Asn) c.6124G>A (p.Asp2042Asn) c.5173G>A (p.Asp1725Asn) | |
15 | g.28141441A>C | CA489234641 | HERC2 | c.12006T>G (p.Ala4002=) c.3717T>G (p.Ala1239=) c.11892T>G (p.Ala3964=) c.11991T>G (p.Ala3997=) c.11748T>G (p.Ala3916=) c.11523T>G (p.Ala3841=) c.9522T>G (p.Ala3174=) c.8751T>G (p.Ala2917=) c.6123T>G (p.Ala2041=) c.5172T>G (p.Ala1724=) | |
15 | g.28141441A>G | CA489234640 | HERC2 | c.12006T>C (p.Ala4002=) c.3717T>C (p.Ala1239=) c.11892T>C (p.Ala3964=) c.11991T>C (p.Ala3997=) c.11748T>C (p.Ala3916=) c.11523T>C (p.Ala3841=) c.9522T>C (p.Ala3174=) c.8751T>C (p.Ala2917=) c.6123T>C (p.Ala2041=) c.5172T>C (p.Ala1724=) | |
15 | g.28141441A>T | CA489234638 | HERC2 | c.12006T>A (p.Ala4002=) c.3717T>A (p.Ala1239=) c.11892T>A (p.Ala3964=) c.11991T>A (p.Ala3997=) c.11748T>A (p.Ala3916=) c.11523T>A (p.Ala3841=) c.9522T>A (p.Ala3174=) c.8751T>A (p.Ala2917=) c.6123T>A (p.Ala2041=) c.5172T>A (p.Ala1724=) | |
15 | g.28141442G>A | CA391380850 | HERC2 | c.12005C>T (p.Ala4002Val) c.3716C>T (p.Ala1239Val) c.11891C>T (p.Ala3964Val) c.11990C>T (p.Ala3997Val) c.11747C>T (p.Ala3916Val) c.11522C>T (p.Ala3841Val) c.9521C>T (p.Ala3174Val) c.8750C>T (p.Ala2917Val) c.6122C>T (p.Ala2041Val) c.5171C>T (p.Ala1724Val) | |
15 | g.28141442G>C | CA391380851 | HERC2 | c.12005C>G (p.Ala4002Gly) c.3716C>G (p.Ala1239Gly) c.11891C>G (p.Ala3964Gly) c.11990C>G (p.Ala3997Gly) c.11747C>G (p.Ala3916Gly) c.11522C>G (p.Ala3841Gly) c.9521C>G (p.Ala3174Gly) c.8750C>G (p.Ala2917Gly) c.6122C>G (p.Ala2041Gly) c.5171C>G (p.Ala1724Gly) | |
15 | g.28141442G>T | CA391380855 | HERC2 | c.12005C>A (p.Ala4002Asp) c.3716C>A (p.Ala1239Asp) c.11891C>A (p.Ala3964Asp) c.11990C>A (p.Ala3997Asp) c.11747C>A (p.Ala3916Asp) c.11522C>A (p.Ala3841Asp) c.9521C>A (p.Ala3174Asp) c.8750C>A (p.Ala2917Asp) c.6122C>A (p.Ala2041Asp) c.5171C>A (p.Ala1724Asp) | |
15 | g.28141443C>A | CA391380861 | HERC2 | c.12004G>T (p.Ala4002Ser) c.3715G>T (p.Ala1239Ser) c.11890G>T (p.Ala3964Ser) c.11989G>T (p.Ala3997Ser) c.11746G>T (p.Ala3916Ser) c.11521G>T (p.Ala3841Ser) c.9520G>T (p.Ala3174Ser) c.8749G>T (p.Ala2917Ser) c.6121G>T (p.Ala2041Ser) c.5170G>T (p.Ala1724Ser) | |
15 | g.28141443C= | CA2166479817 | HERC2 | c.12004G= (p.Ala4002=) c.3715G= (p.Ala1239=) c.11890G= (p.Ala3964=) c.11989G= (p.Ala3997=) c.11746G= (p.Ala3916=) c.11521G= (p.Ala3841=) c.9520G= (p.Ala3174=) c.8749G= (p.Ala2917=) c.6121G= (p.Ala2041=) c.5170G= (p.Ala1724=) | |
15 | g.28141443C>G | CA391380864 | HERC2 | c.12004G>C (p.Ala4002Pro) c.3715G>C (p.Ala1239Pro) c.11890G>C (p.Ala3964Pro) c.11989G>C (p.Ala3997Pro) c.11746G>C (p.Ala3916Pro) c.11521G>C (p.Ala3841Pro) c.9520G>C (p.Ala3174Pro) c.8749G>C (p.Ala2917Pro) c.6121G>C (p.Ala2041Pro) c.5170G>C (p.Ala1724Pro) | |
15 | g.28141443C>T | CA7440416 | HERC2 | c.12004G>A (p.Ala4002Thr) c.3715G>A (p.Ala1239Thr) c.11890G>A (p.Ala3964Thr) c.11989G>A (p.Ala3997Thr) c.11746G>A (p.Ala3916Thr) c.11521G>A (p.Ala3841Thr) c.9520G>A (p.Ala3174Thr) c.8749G>A (p.Ala2917Thr) c.6121G>A (p.Ala2041Thr) c.5170G>A (p.Ala1724Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141444C>A | CA489234644 | HERC2 | c.12003G>T (p.Thr4001=) c.3714G>T (p.Thr1238=) c.11889G>T (p.Thr3963=) c.11988G>T (p.Thr3996=) c.11745G>T (p.Thr3915=) c.11520G>T (p.Thr3840=) c.9519G>T (p.Thr3173=) c.8748G>T (p.Thr2916=) c.6120G>T (p.Thr2040=) c.5169G>T (p.Thr1723=) | |
15 | g.28141444C= | CA2166479820 | HERC2 | c.12003G= (p.Thr4001=) c.3714G= (p.Thr1238=) c.11889G= (p.Thr3963=) c.11988G= (p.Thr3996=) c.11745G= (p.Thr3915=) c.11520G= (p.Thr3840=) c.9519G= (p.Thr3173=) c.8748G= (p.Thr2916=) c.6120G= (p.Thr2040=) c.5169G= (p.Thr1723=) | |
15 | g.28141444C>G | CA267945985 | HERC2 | c.12003G>C (p.Thr4001=) c.3714G>C (p.Thr1238=) c.11889G>C (p.Thr3963=) c.11988G>C (p.Thr3996=) c.11745G>C (p.Thr3915=) c.11520G>C (p.Thr3840=) c.9519G>C (p.Thr3173=) c.8748G>C (p.Thr2916=) c.6120G>C (p.Thr2040=) c.5169G>C (p.Thr1723=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141444C>T | CA7440417 | HERC2 | c.12003G>A (p.Thr4001=) c.3714G>A (p.Thr1238=) c.11889G>A (p.Thr3963=) c.11988G>A (p.Thr3996=) c.11745G>A (p.Thr3915=) c.11520G>A (p.Thr3840=) c.9519G>A (p.Thr3173=) c.8748G>A (p.Thr2916=) c.6120G>A (p.Thr2040=) c.5169G>A (p.Thr1723=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141445G>A | CA7440418 | HERC2 | c.12002C>T (p.Thr4001Met) c.3713C>T (p.Thr1238Met) c.11888C>T (p.Thr3963Met) c.11987C>T (p.Thr3996Met) c.11744C>T (p.Thr3915Met) c.11519C>T (p.Thr3840Met) c.9518C>T (p.Thr3173Met) c.8747C>T (p.Thr2916Met) c.6119C>T (p.Thr2040Met) c.5168C>T (p.Thr1723Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141445G>C | CA391380872 | HERC2 | c.12002C>G (p.Thr4001Arg) c.3713C>G (p.Thr1238Arg) c.11888C>G (p.Thr3963Arg) c.11987C>G (p.Thr3996Arg) c.11744C>G (p.Thr3915Arg) c.11519C>G (p.Thr3840Arg) c.9518C>G (p.Thr3173Arg) c.8747C>G (p.Thr2916Arg) c.6119C>G (p.Thr2040Arg) c.5168C>G (p.Thr1723Arg) | |
15 | g.28141445G= | CA2166479822 | HERC2 | c.12002C= (p.Thr4001=) c.3713C= (p.Thr1238=) c.11888C= (p.Thr3963=) c.11987C= (p.Thr3996=) c.11744C= (p.Thr3915=) c.11519C= (p.Thr3840=) c.9518C= (p.Thr3173=) c.8747C= (p.Thr2916=) c.6119C= (p.Thr2040=) c.5168C= (p.Thr1723=) | |
15 | g.28141445G>T | CA391380873 | HERC2 | c.12002C>A (p.Thr4001Lys) c.3713C>A (p.Thr1238Lys) c.11888C>A (p.Thr3963Lys) c.11987C>A (p.Thr3996Lys) c.11744C>A (p.Thr3915Lys) c.11519C>A (p.Thr3840Lys) c.9518C>A (p.Thr3173Lys) c.8747C>A (p.Thr2916Lys) c.6119C>A (p.Thr2040Lys) c.5168C>A (p.Thr1723Lys) |