Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127421301G>A | CA348397677 | PROC | c.89G>A (p.Ser30Asn) c.71-17G>A (n.71-17G>A) n.172G>A c.272G>A (p.Ser91Asn) c.152G>A (p.Ser51Asn) c.349-17G>A (n.349-17G>A) c.190-17G>A (n.190-17G>A) c.65G>A (p.Ser22Asn) c.83G>A (p.Ser28Asn) | gnomAD v4 |
2 | g.127421301G>C | CA348397678 | PROC | c.89G>C (p.Ser30Thr) c.71-17G>C (n.71-17G>C) n.172G>C c.272G>C (p.Ser91Thr) c.152G>C (p.Ser51Thr) c.349-17G>C (n.349-17G>C) c.190-17G>C (n.190-17G>C) c.65G>C (p.Ser22Thr) c.83G>C (p.Ser28Thr) | |
2 | g.127421301G>T | CA348397679 | PROC | c.89G>T (p.Ser30Ile) c.71-17G>T (n.71-17G>T) n.172G>T c.272G>T (p.Ser91Ile) c.152G>T (p.Ser51Ile) c.349-17G>T (n.349-17G>T) c.190-17G>T (n.190-17G>T) c.65G>T (p.Ser22Ile) c.83G>T (p.Ser28Ile) | |
2 | g.127421303_127421310del | CA2660995564 | PROC | c.91_98del (p.Glu31ProfsTer?) c.71-15_71-8del (n.71-15_71-8del) n.174_181del c.274_281del (p.Glu92ProfsTer?) c.154_161del (p.Glu52ProfsTer?) c.349-15_349-8del (n.349-15_349-8del) c.190-15_190-8del (n.190-15_190-8del) c.67_74del (p.Glu23ProfsTer?) c.85_92del (p.Glu29ProfsTer?) | gnomAD v4 |
2 | g.127421302C>A | CA55342840 | PROC | c.90C>A (p.Ser30Arg) c.71-16C>A (n.71-16C>A) n.173C>A c.273C>A (p.Ser91Arg) c.153C>A (p.Ser51Arg) c.349-16C>A (n.349-16C>A) c.190-16C>A (n.190-16C>A) c.66C>A (p.Ser22Arg) c.84C>A (p.Ser28Arg) | dbSNP gnomAD v4 |
2 | g.127421302C= | CA1286881585 | PROC | c.90C= (p.Ser30=) c.71-16C= (n.71-16C=) n.173C= c.273C= (p.Ser91=) c.153C= (p.Ser51=) c.349-16C= (n.349-16C=) c.190-16C= (n.190-16C=) c.66C= (p.Ser22=) c.84C= (p.Ser28=) | |
2 | g.127421302C>G | CA348397681 | PROC | c.90C>G (p.Ser30Arg) c.71-16C>G (n.71-16C>G) n.173C>G c.273C>G (p.Ser91Arg) c.153C>G (p.Ser51Arg) c.349-16C>G (n.349-16C>G) c.190-16C>G (n.190-16C>G) c.66C>G (p.Ser22Arg) c.84C>G (p.Ser28Arg) | |
2 | g.127421302C>T | CA1859235 | PROC | c.90C>T (p.Ser30=) c.71-16C>T (n.71-16C>T) n.173C>T c.273C>T (p.Ser91=) c.153C>T (p.Ser51=) c.349-16C>T (n.349-16C>T) c.190-16C>T (n.190-16C>T) c.66C>T (p.Ser22=) c.84C>T (p.Ser28=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421303G>A | CA1859236 | PROC | c.91G>A (p.Glu31Lys) c.71-15G>A (n.71-15G>A) n.174G>A c.274G>A (p.Glu92Lys) c.154G>A (p.Glu52Lys) c.349-15G>A (n.349-15G>A) c.190-15G>A (n.190-15G>A) c.67G>A (p.Glu23Lys) c.85G>A (p.Glu29Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421303G>C | CA348397682 | PROC | c.91G>C (p.Glu31Gln) c.71-15G>C (n.71-15G>C) n.174G>C c.274G>C (p.Glu92Gln) c.154G>C (p.Glu52Gln) c.349-15G>C (n.349-15G>C) c.190-15G>C (n.190-15G>C) c.67G>C (p.Glu23Gln) c.85G>C (p.Glu29Gln) | |
2 | g.127421303G= | CA1286881590 | PROC | c.91G= (p.Glu31=) c.71-15G= (n.71-15G=) n.174G= c.274G= (p.Glu92=) c.154G= (p.Glu52=) c.349-15G= (n.349-15G=) c.190-15G= (n.190-15G=) c.67G= (p.Glu23=) c.85G= (p.Glu29=) | |
2 | g.127421303G>T | CA348397683 | PROC | c.91G>T (p.Glu31Ter) c.71-15G>T (n.71-15G>T) n.174G>T c.274G>T (p.Glu92Ter) c.154G>T (p.Glu52Ter) c.349-15G>T (n.349-15G>T) c.190-15G>T (n.190-15G>T) c.67G>T (p.Glu23Ter) c.85G>T (p.Glu29Ter) | gnomAD v4 |
2 | g.127421304A>C | CA348397684 | PROC | c.92A>C (p.Glu31Ala) c.71-14A>C (n.71-14A>C) n.175A>C c.275A>C (p.Glu92Ala) c.155A>C (p.Glu52Ala) c.349-14A>C (n.349-14A>C) c.190-14A>C (n.190-14A>C) c.68A>C (p.Glu23Ala) c.86A>C (p.Glu29Ala) | |
2 | g.127421304A>G | CA348397685 | PROC | c.92A>G (p.Glu31Gly) c.71-14A>G (n.71-14A>G) n.175A>G c.275A>G (p.Glu92Gly) c.155A>G (p.Glu52Gly) c.349-14A>G (n.349-14A>G) c.190-14A>G (n.190-14A>G) c.68A>G (p.Glu23Gly) c.86A>G (p.Glu29Gly) | |
2 | g.127421304A>T | CA348397686 | PROC | c.92A>T (p.Glu31Val) c.71-14A>T (n.71-14A>T) n.175A>T c.275A>T (p.Glu92Val) c.155A>T (p.Glu52Val) c.349-14A>T (n.349-14A>T) c.190-14A>T (n.190-14A>T) c.68A>T (p.Glu23Val) c.86A>T (p.Glu29Val) | ClinVar |
2 | g.127421305G>A | CA428617337 | PROC | c.93G>A (p.Glu31=) c.71-13G>A (n.71-13G>A) n.176G>A c.276G>A (p.Glu92=) c.156G>A (p.Glu52=) c.349-13G>A (n.349-13G>A) c.190-13G>A (n.190-13G>A) c.69G>A (p.Glu23=) c.87G>A (p.Glu29=) | |
2 | g.127421305G>C | CA348397687 | PROC | c.93G>C (p.Glu31Asp) c.71-13G>C (n.71-13G>C) n.176G>C c.276G>C (p.Glu92Asp) c.156G>C (p.Glu52Asp) c.349-13G>C (n.349-13G>C) c.190-13G>C (n.190-13G>C) c.69G>C (p.Glu23Asp) c.87G>C (p.Glu29Asp) | |
2 | g.127421305G>T | CA348397688 | PROC | c.93G>T (p.Glu31Asp) c.71-13G>T (n.71-13G>T) n.176G>T c.276G>T (p.Glu92Asp) c.156G>T (p.Glu52Asp) c.349-13G>T (n.349-13G>T) c.190-13G>T (n.190-13G>T) c.69G>T (p.Glu23Asp) c.87G>T (p.Glu29Asp) | |
2 | g.127421306C>A | CA348397689 | PROC | c.94C>A (p.Arg32Ser) c.71-12C>A (n.71-12C>A) n.177C>A c.277C>A (p.Arg93Ser) c.157C>A (p.Arg53Ser) c.349-12C>A (n.349-12C>A) c.190-12C>A (n.190-12C>A) c.70C>A (p.Arg24Ser) c.88C>A (p.Arg30Ser) | gnomAD v4 COSMIC |
2 | g.127421306C>G | CA348397691 | PROC | c.94C>G (p.Arg32Gly) c.71-12C>G (n.71-12C>G) n.177C>G c.277C>G (p.Arg93Gly) c.157C>G (p.Arg53Gly) c.349-12C>G (n.349-12C>G) c.190-12C>G (n.190-12C>G) c.70C>G (p.Arg24Gly) c.88C>G (p.Arg30Gly) | |
2 | g.127421306C>T | CA348397690 | PROC | c.94C>T (p.Arg32Cys) c.71-12C>T (n.71-12C>T) n.177C>T c.277C>T (p.Arg93Cys) c.157C>T (p.Arg53Cys) c.349-12C>T (n.349-12C>T) c.190-12C>T (n.190-12C>T) c.70C>T (p.Arg24Cys) c.88C>T (p.Arg30Cys) | ClinVar gnomAD v4 |
2 | g.127421307G>A | CA348397692 | PROC | c.95G>A (p.Arg32His) c.71-11G>A (n.71-11G>A) n.178G>A c.278G>A (p.Arg93His) c.158G>A (p.Arg53His) c.349-11G>A (n.349-11G>A) c.190-11G>A (n.190-11G>A) c.71G>A (p.Arg24His) c.89G>A (p.Arg30His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421307G>C | CA1859237 | PROC | c.95G>C (p.Arg32Pro) c.71-11G>C (n.71-11G>C) n.178G>C c.278G>C (p.Arg93Pro) c.158G>C (p.Arg53Pro) c.349-11G>C (n.349-11G>C) c.190-11G>C (n.190-11G>C) c.71G>C (p.Arg24Pro) c.89G>C (p.Arg30Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421307G= | CA1286881595 | PROC | c.95G= (p.Arg32=) c.71-11G= (n.71-11G=) n.178G= c.278G= (p.Arg93=) c.158G= (p.Arg53=) c.349-11G= (n.349-11G=) c.190-11G= (n.190-11G=) c.71G= (p.Arg24=) c.89G= (p.Arg30=) | |
2 | g.127421307G>T | CA348397693 | PROC | c.95G>T (p.Arg32Leu) c.71-11G>T (n.71-11G>T) n.178G>T c.278G>T (p.Arg93Leu) c.158G>T (p.Arg53Leu) c.349-11G>T (n.349-11G>T) c.190-11G>T (n.190-11G>T) c.71G>T (p.Arg24Leu) c.89G>T (p.Arg30Leu) | gnomAD v4 |
2 | g.127421308T>A | CA428617341 | PROC | c.96T>A (p.Arg32=) c.71-10T>A (n.71-10T>A) n.179T>A c.279T>A (p.Arg93=) c.159T>A (p.Arg53=) c.349-10T>A (n.349-10T>A) c.190-10T>A (n.190-10T>A) c.72T>A (p.Arg24=) c.90T>A (p.Arg30=) | |
2 | g.127421308T>C | CA428617342 | PROC | c.96T>C (p.Arg32=) c.71-10T>C (n.71-10T>C) n.179T>C c.279T>C (p.Arg93=) c.159T>C (p.Arg53=) c.349-10T>C (n.349-10T>C) c.190-10T>C (n.190-10T>C) c.72T>C (p.Arg24=) c.90T>C (p.Arg30=) | gnomAD v4 |
2 | g.127421308T>G | CA428617344 | PROC | c.96T>G (p.Arg32=) c.71-10T>G (n.71-10T>G) n.179T>G c.279T>G (p.Arg93=) c.159T>G (p.Arg53=) c.349-10T>G (n.349-10T>G) c.190-10T>G (n.190-10T>G) c.72T>G (p.Arg24=) c.90T>G (p.Arg30=) | |
2 | g.127421309G>A | CA348397694 | PROC | c.97G>A (p.Ala33Thr) c.71-9G>A (n.71-9G>A) n.180G>A c.280G>A (p.Ala94Thr) c.160G>A (p.Ala54Thr) c.349-9G>A (n.349-9G>A) c.190-9G>A (n.190-9G>A) c.73G>A (p.Ala25Thr) c.91G>A (p.Ala31Thr) | |
2 | g.127421309G>C | CA348397695 | PROC | c.97G>C (p.Ala33Pro) c.71-9G>C (n.71-9G>C) n.180G>C c.280G>C (p.Ala94Pro) c.160G>C (p.Ala54Pro) c.349-9G>C (n.349-9G>C) c.190-9G>C (n.190-9G>C) c.73G>C (p.Ala25Pro) c.91G>C (p.Ala31Pro) | |
2 | g.127421309G>T | CA348397696 | PROC | c.97G>T (p.Ala33Ser) c.71-9G>T (n.71-9G>T) n.180G>T c.280G>T (p.Ala94Ser) c.160G>T (p.Ala54Ser) c.349-9G>T (n.349-9G>T) c.190-9G>T (n.190-9G>T) c.73G>T (p.Ala25Ser) c.91G>T (p.Ala31Ser) | |
2 | g.127421310C>A | CA348397697 | PROC | c.98C>A (p.Ala33Asp) c.71-8C>A (n.71-8C>A) n.181C>A c.281C>A (p.Ala94Asp) c.161C>A (p.Ala54Asp) c.349-8C>A (n.349-8C>A) c.190-8C>A (n.190-8C>A) c.74C>A (p.Ala25Asp) c.92C>A (p.Ala31Asp) | |
2 | g.127421310C>G | CA348397698 | PROC | c.98C>G (p.Ala33Gly) c.71-8C>G (n.71-8C>G) n.181C>G c.281C>G (p.Ala94Gly) c.161C>G (p.Ala54Gly) c.349-8C>G (n.349-8C>G) c.190-8C>G (n.190-8C>G) c.74C>G (p.Ala25Gly) c.92C>G (p.Ala31Gly) | |
2 | g.127421310C>T | CA348397699 | PROC | c.98C>T (p.Ala33Val) c.71-8C>T (n.71-8C>T) n.181C>T c.281C>T (p.Ala94Val) c.161C>T (p.Ala54Val) c.349-8C>T (n.349-8C>T) c.190-8C>T (n.190-8C>T) c.74C>T (p.Ala25Val) c.92C>T (p.Ala31Val) | |
2 | g.127421311C>A | CA428617350 | PROC | c.99C>A (p.Ala33=) c.71-7C>A (n.71-7C>A) n.182C>A c.282C>A (p.Ala94=) c.162C>A (p.Ala54=) c.349-7C>A (n.349-7C>A) c.190-7C>A (n.190-7C>A) c.75C>A (p.Ala25=) c.93C>A (p.Ala31=) | |
2 | g.127421311C>G | CA428617351 | PROC | c.99C>G (p.Ala33=) c.71-7C>G (n.71-7C>G) n.182C>G c.282C>G (p.Ala94=) c.162C>G (p.Ala54=) c.349-7C>G (n.349-7C>G) c.190-7C>G (n.190-7C>G) c.75C>G (p.Ala25=) c.93C>G (p.Ala31=) | |
2 | g.127421311C>T | CA428617349 | PROC | c.99C>T (p.Ala33=) c.71-7C>T (n.71-7C>T) n.182C>T c.282C>T (p.Ala94=) c.162C>T (p.Ala54=) c.349-7C>T (n.349-7C>T) c.190-7C>T (n.190-7C>T) c.75C>T (p.Ala25=) c.93C>T (p.Ala31=) | |
2 | g.127421312C>A | CA348397700 | PROC | c.100C>A (p.His34Asn) c.71-6C>A (n.71-6C>A) n.183C>A c.283C>A (p.His95Asn) c.163C>A (p.His55Asn) c.349-6C>A (n.349-6C>A) c.190-6C>A (n.190-6C>A) c.76C>A (p.His26Asn) c.94C>A (p.His32Asn) | |
2 | g.127421312C>G | CA348397701 | PROC | c.100C>G (p.His34Asp) c.71-6C>G (n.71-6C>G) n.183C>G c.283C>G (p.His95Asp) c.163C>G (p.His55Asp) c.349-6C>G (n.349-6C>G) c.190-6C>G (n.190-6C>G) c.76C>G (p.His26Asp) c.94C>G (p.His32Asp) | |
2 | g.127421312C>T | CA348397702 | PROC | c.100C>T (p.His34Tyr) c.71-6C>T (n.71-6C>T) n.183C>T c.283C>T (p.His95Tyr) c.163C>T (p.His55Tyr) c.349-6C>T (n.349-6C>T) c.190-6C>T (n.190-6C>T) c.76C>T (p.His26Tyr) c.94C>T (p.His32Tyr) | |
2 | g.127421313A= | CA1286881598 | PROC | c.101A= (p.His34=) c.71-5A= (n.71-5A=) n.184A= c.284A= (p.His95=) c.164A= (p.His55=) c.349-5A= (n.349-5A=) c.190-5A= (n.190-5A=) c.77A= (p.His26=) c.95A= (p.His32=) | |
2 | g.127421313A>C | CA348397703 | PROC | c.101A>C (p.His34Pro) c.71-5A>C (n.71-5A>C) n.184A>C c.284A>C (p.His95Pro) c.164A>C (p.His55Pro) c.349-5A>C (n.349-5A>C) c.190-5A>C (n.190-5A>C) c.77A>C (p.His26Pro) c.95A>C (p.His32Pro) | dbSNP |
2 | g.127421313A>G | CA348397705 | PROC | c.101A>G (p.His34Arg) c.71-5A>G (n.71-5A>G) n.184A>G c.284A>G (p.His95Arg) c.164A>G (p.His55Arg) c.349-5A>G (n.349-5A>G) c.190-5A>G (n.190-5A>G) c.77A>G (p.His26Arg) c.95A>G (p.His32Arg) | |
2 | g.127421313A>T | CA348397704 | PROC | c.101A>T (p.His34Leu) c.71-5A>T (n.71-5A>T) n.184A>T c.284A>T (p.His95Leu) c.164A>T (p.His55Leu) c.349-5A>T (n.349-5A>T) c.190-5A>T (n.190-5A>T) c.77A>T (p.His26Leu) c.95A>T (p.His32Leu) | |
2 | g.127421314C>A | CA348397706 | PROC | c.102C>A (p.His34Gln) c.71-4C>A (n.71-4C>A) n.185C>A c.285C>A (p.His95Gln) c.165C>A (p.His55Gln) c.349-4C>A (n.349-4C>A) c.190-4C>A (n.190-4C>A) c.78C>A (p.His26Gln) c.96C>A (p.His32Gln) | |
2 | g.127421314C>G | CA348397707 | PROC | c.102C>G (p.His34Gln) c.71-4C>G (n.71-4C>G) n.185C>G c.285C>G (p.His95Gln) c.165C>G (p.His55Gln) c.349-4C>G (n.349-4C>G) c.190-4C>G (n.190-4C>G) c.78C>G (p.His26Gln) c.96C>G (p.His32Gln) | |
2 | g.127421314C>T | CA428617353 | PROC | c.102C>T (p.His34=) c.71-4C>T (n.71-4C>T) n.185C>T c.285C>T (p.His95=) c.165C>T (p.His55=) c.349-4C>T (n.349-4C>T) c.190-4C>T (n.190-4C>T) c.78C>T (p.His26=) c.96C>T (p.His32=) | |
2 | g.127421315C>A | CA348397708 | PROC | c.103C>A (p.Gln35Lys) c.71-3C>A (n.71-3C>A) n.186C>A c.286C>A (p.Gln96Lys) c.166C>A (p.Gln56Lys) c.349-3C>A (n.349-3C>A) c.190-3C>A (n.190-3C>A) c.79C>A (p.Gln27Lys) c.97C>A (p.Gln33Lys) | |
2 | g.127421315C>G | CA348397709 | PROC | c.103C>G (p.Gln35Glu) c.71-3C>G (n.71-3C>G) n.186C>G c.286C>G (p.Gln96Glu) c.166C>G (p.Gln56Glu) c.349-3C>G (n.349-3C>G) c.190-3C>G (n.190-3C>G) c.79C>G (p.Gln27Glu) c.97C>G (p.Gln33Glu) | |
2 | g.127421315C>T | CA348397710 | PROC | c.103C>T (p.Gln35Ter) c.71-3C>T (n.71-3C>T) n.186C>T c.286C>T (p.Gln96Ter) c.166C>T (p.Gln56Ter) c.349-3C>T (n.349-3C>T) c.190-3C>T (n.190-3C>T) c.79C>T (p.Gln27Ter) c.97C>T (p.Gln33Ter) | |
2 | g.127421316A= | CA1286881603 | PROC | c.104A= (p.Gln35=) c.71-2A= (n.71-2A=) n.187A= c.287A= (p.Gln96=) c.167A= (p.Gln56=) c.349-2A= (n.349-2A=) c.190-2A= (n.190-2A=) c.80A= (p.Gln27=) c.98A= (p.Gln33=) | |
2 | g.127421316A>C | CA348397711 | PROC | c.104A>C (p.Gln35Pro) c.71-2A>C (n.71-2A>C) n.187A>C c.287A>C (p.Gln96Pro) c.167A>C (p.Gln56Pro) c.349-2A>C (n.349-2A>C) c.190-2A>C (n.190-2A>C) c.80A>C (p.Gln27Pro) c.98A>C (p.Gln33Pro) | |
2 | g.127421316A>G | CA348397712 | PROC | c.104A>G (p.Gln35Arg) c.71-2A>G (n.71-2A>G) n.187A>G c.287A>G (p.Gln96Arg) c.167A>G (p.Gln56Arg) c.349-2A>G (n.349-2A>G) c.190-2A>G (n.190-2A>G) c.80A>G (p.Gln27Arg) c.98A>G (p.Gln33Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421316A>T | CA348397713 | PROC | c.104A>T (p.Gln35Leu) c.71-2A>T (n.71-2A>T) n.187A>T c.287A>T (p.Gln96Leu) c.167A>T (p.Gln56Leu) c.349-2A>T (n.349-2A>T) c.190-2A>T (n.190-2A>T) c.80A>T (p.Gln27Leu) c.98A>T (p.Gln33Leu) | |
2 | g.127421317G>A | CA428617355 | PROC | c.105G>A (p.Gln35=) c.71-1G>A (n.71-1G>A) n.188G>A c.288G>A (p.Gln96=) c.168G>A (p.Gln56=) c.349-1G>A (n.349-1G>A) c.190-1G>A (n.190-1G>A) c.81G>A (p.Gln27=) c.99G>A (p.Gln33=) | |
2 | g.127421317G>C | CA1859238 | PROC | c.105G>C (p.Gln35His) c.71-1G>C (n.71-1G>C) n.188G>C c.288G>C (p.Gln96His) c.168G>C (p.Gln56His) c.349-1G>C (n.349-1G>C) c.190-1G>C (n.190-1G>C) c.81G>C (p.Gln27His) c.99G>C (p.Gln33His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127421317G= | CA1286881606 | PROC | c.105G= (p.Gln35=) c.71-1G= (n.71-1G=) n.188G= c.288G= (p.Gln96=) c.168G= (p.Gln56=) c.349-1G= (n.349-1G=) c.190-1G= (n.190-1G=) c.81G= (p.Gln27=) c.99G= (p.Gln33=) | |
2 | g.127421317G>T | CA348397714 | PROC | c.105G>T (p.Gln35His) c.71-1G>T (n.71-1G>T) n.188G>T c.288G>T (p.Gln96His) c.168G>T (p.Gln56His) c.349-1G>T (n.349-1G>T) c.190-1G>T (n.190-1G>T) c.81G>T (p.Gln27His) c.99G>T (p.Gln33His) | |
2 | g.127421318G>A | CA348397715 | PROC | c.106G>A (p.Val36Met) c.71G>A (p.Gly24Asp) n.189G>A c.289G>A (p.Val97Met) c.169G>A (p.Val57Met) c.349G>A (p.Val117Met) c.190G>A (p.Val64Met) c.82G>A (p.Val28Met) c.100G>A (p.Val34Met) | gnomAD v4 |
2 | g.127421318G>C | CA348397716 | PROC | c.106G>C (p.Val36Leu) c.71G>C (p.Gly24Ala) n.189G>C c.289G>C (p.Val97Leu) c.169G>C (p.Val57Leu) c.349G>C (p.Val117Leu) c.190G>C (p.Val64Leu) c.82G>C (p.Val28Leu) c.100G>C (p.Val34Leu) | |
2 | g.127421318G= | CA1286881608 | PROC | c.106G= (p.Val36=) c.71G= (p.Gly24=) n.189G= c.289G= (p.Val97=) c.169G= (p.Val57=) c.349G= (p.Val117=) c.190G= (p.Val64=) c.82G= (p.Val28=) c.100G= (p.Val34=) | |
2 | g.127421318G>T | CA348397717 | PROC | c.106G>T (p.Val36Leu) c.71G>T (p.Gly24Val) n.189G>T c.289G>T (p.Val97Leu) c.169G>T (p.Val57Leu) c.349G>T (p.Val117Leu) c.190G>T (p.Val64Leu) c.82G>T (p.Val28Leu) c.100G>T (p.Val34Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421319T>A | CA348397720 | PROC | c.107T>A (p.Val36Glu) c.72T>A (p.Gly24=) n.190T>A c.290T>A (p.Val97Glu) c.170T>A (p.Val57Glu) c.350T>A (p.Val117Glu) c.191T>A (p.Val64Glu) c.83T>A (p.Val28Glu) c.101T>A (p.Val34Glu) | |
2 | g.127421319T>C | CA348397719 | PROC | c.107T>C (p.Val36Ala) c.72T>C (p.Gly24=) n.190T>C c.290T>C (p.Val97Ala) c.170T>C (p.Val57Ala) c.350T>C (p.Val117Ala) c.191T>C (p.Val64Ala) c.83T>C (p.Val28Ala) c.101T>C (p.Val34Ala) | |
2 | g.127421319T>G | CA348397718 | PROC | c.107T>G (p.Val36Gly) c.72T>G (p.Gly24=) n.190T>G c.290T>G (p.Val97Gly) c.170T>G (p.Val57Gly) c.350T>G (p.Val117Gly) c.191T>G (p.Val64Gly) c.83T>G (p.Val28Gly) c.101T>G (p.Val34Gly) | |
2 | g.127421320G>A | CA428617356 | PROC | c.108G>A (p.Val36=) c.73G>A (p.Ala25Thr) n.191G>A c.291G>A (p.Val97=) c.171G>A (p.Val57=) c.351G>A (p.Val117=) c.192G>A (p.Val64=) c.84G>A (p.Val28=) c.102G>A (p.Val34=) | gnomAD v4 |
2 | g.127421320G>C | CA428617357 | PROC | c.108G>C (p.Val36=) c.73G>C (p.Ala25Pro) n.191G>C c.291G>C (p.Val97=) c.171G>C (p.Val57=) c.351G>C (p.Val117=) c.192G>C (p.Val64=) c.84G>C (p.Val28=) c.102G>C (p.Val34=) | |
2 | g.127421320G>T | CA428617358 | PROC | c.108G>T (p.Val36=) c.73G>T (p.Ala25Ser) n.191G>T c.291G>T (p.Val97=) c.171G>T (p.Val57=) c.351G>T (p.Val117=) c.192G>T (p.Val64=) c.84G>T (p.Val28=) c.102G>T (p.Val34=) | |
2 | g.127421321C>A | CA348397721 | PROC | c.109C>A (p.Leu37Met) c.74C>A (p.Ala25Asp) n.192C>A c.292C>A (p.Leu98Met) c.172C>A (p.Leu58Met) c.352C>A (p.Leu118Met) c.193C>A (p.Leu65Met) c.85C>A (p.Leu29Met) c.103C>A (p.Leu35Met) | |
2 | g.127421321C= | CA1286881611 | PROC | c.109C= (p.Leu37=) c.74C= (p.Ala25=) n.192C= c.292C= (p.Leu98=) c.172C= (p.Leu58=) c.352C= (p.Leu118=) c.193C= (p.Leu65=) c.85C= (p.Leu29=) c.103C= (p.Leu35=) | |
2 | g.127421321C>G | CA1859239 | PROC | c.109C>G (p.Leu37Val) c.74C>G (p.Ala25Gly) n.192C>G c.292C>G (p.Leu98Val) c.172C>G (p.Leu58Val) c.352C>G (p.Leu118Val) c.193C>G (p.Leu65Val) c.85C>G (p.Leu29Val) c.103C>G (p.Leu35Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127421321C>T | CA428617361 | PROC | c.109C>T (p.Leu37=) c.74C>T (p.Ala25Val) n.192C>T c.292C>T (p.Leu98=) c.172C>T (p.Leu58=) c.352C>T (p.Leu118=) c.193C>T (p.Leu65=) c.85C>T (p.Leu29=) c.103C>T (p.Leu35=) | |
2 | g.127421322T>A | CA348397722 | PROC | c.110T>A (p.Leu37Gln) c.75T>A (p.Ala25=) n.193T>A c.293T>A (p.Leu98Gln) c.173T>A (p.Leu58Gln) c.353T>A (p.Leu118Gln) c.194T>A (p.Leu65Gln) c.86T>A (p.Leu29Gln) c.104T>A (p.Leu35Gln) | |
2 | g.127421322T>C | CA1859240 | PROC | c.110T>C (p.Leu37Pro) c.75T>C (p.Ala25=) n.193T>C c.293T>C (p.Leu98Pro) c.173T>C (p.Leu58Pro) c.353T>C (p.Leu118Pro) c.194T>C (p.Leu65Pro) c.86T>C (p.Leu29Pro) c.104T>C (p.Leu35Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127421322T>G | CA348397723 | PROC | c.110T>G (p.Leu37Arg) c.75T>G (p.Ala25=) n.193T>G c.293T>G (p.Leu98Arg) c.173T>G (p.Leu58Arg) c.353T>G (p.Leu118Arg) c.194T>G (p.Leu65Arg) c.86T>G (p.Leu29Arg) c.104T>G (p.Leu35Arg) | |
2 | g.127421322T= | CA1286881613 | PROC | c.110T= (p.Leu37=) c.75T= (p.Ala25=) n.193T= c.293T= (p.Leu98=) c.173T= (p.Leu58=) c.353T= (p.Leu118=) c.194T= (p.Leu65=) c.86T= (p.Leu29=) c.104T= (p.Leu35=) | |
2 | g.127421323G>A | CA428617362 | PROC | c.111G>A (p.Leu37=) c.76G>A (p.Ala26Thr) n.194G>A c.294G>A (p.Leu98=) c.174G>A (p.Leu58=) c.354G>A (p.Leu118=) c.195G>A (p.Leu65=) c.87G>A (p.Leu29=) c.105G>A (p.Leu35=) | gnomAD v4 |
2 | g.127421323G>C | CA428617363 | PROC | c.111G>C (p.Leu37=) c.76G>C (p.Ala26Pro) n.194G>C c.294G>C (p.Leu98=) c.174G>C (p.Leu58=) c.354G>C (p.Leu118=) c.195G>C (p.Leu65=) c.87G>C (p.Leu29=) c.105G>C (p.Leu35=) | |
2 | g.127421323G>T | CA428617364 | PROC | c.111G>T (p.Leu37=) c.76G>T (p.Ala26Ser) n.194G>T c.294G>T (p.Leu98=) c.174G>T (p.Leu58=) c.354G>T (p.Leu118=) c.195G>T (p.Leu65=) c.87G>T (p.Leu29=) c.105G>T (p.Leu35=) | |
2 | g.127421324C>A | CA428617365 | PROC | c.112C>A (p.Arg38=) c.77C>A (p.Ala26Glu) n.195C>A c.295C>A (p.Arg99=) c.175C>A (p.Arg59=) c.355C>A (p.Arg119=) c.196C>A (p.Arg66=) c.88C>A (p.Arg30=) c.106C>A (p.Arg36=) | |
2 | g.127421324C= | CA1286881621 | PROC | c.112C= (p.Arg38=) c.77C= (p.Ala26=) n.195C= c.295C= (p.Arg99=) c.175C= (p.Arg59=) c.355C= (p.Arg119=) c.196C= (p.Arg66=) c.88C= (p.Arg30=) c.106C= (p.Arg36=) | |
2 | g.127421324C>G | CA348397724 | PROC | c.112C>G (p.Arg38Gly) c.77C>G (p.Ala26Gly) n.195C>G c.295C>G (p.Arg99Gly) c.175C>G (p.Arg59Gly) c.355C>G (p.Arg119Gly) c.196C>G (p.Arg66Gly) c.88C>G (p.Arg30Gly) c.106C>G (p.Arg36Gly) | |
2 | g.127421324C>T | CA1859241 | PROC | c.112C>T (p.Arg38Trp) c.77C>T (p.Ala26Val) n.195C>T c.295C>T (p.Arg99Trp) c.175C>T (p.Arg59Trp) c.355C>T (p.Arg119Trp) c.196C>T (p.Arg66Trp) c.88C>T (p.Arg30Trp) c.106C>T (p.Arg36Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421325G>A | CA1859242 | PROC | c.113G>A (p.Arg38Gln) c.78G>A (p.Ala26=) n.196G>A c.296G>A (p.Arg99Gln) c.176G>A (p.Arg59Gln) c.356G>A (p.Arg119Gln) c.197G>A (p.Arg66Gln) c.89G>A (p.Arg30Gln) c.107G>A (p.Arg36Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127421325G>C | CA348397725 | PROC | c.113G>C (p.Arg38Pro) c.78G>C (p.Ala26=) n.196G>C c.296G>C (p.Arg99Pro) c.176G>C (p.Arg59Pro) c.356G>C (p.Arg119Pro) c.197G>C (p.Arg66Pro) c.89G>C (p.Arg30Pro) c.107G>C (p.Arg36Pro) | dbSNP |
2 | g.127421325G= | CA1286881625 | PROC | c.113G= (p.Arg38=) c.78G= (p.Ala26=) n.196G= c.296G= (p.Arg99=) c.176G= (p.Arg59=) c.356G= (p.Arg119=) c.197G= (p.Arg66=) c.89G= (p.Arg30=) c.107G= (p.Arg36=) | |
2 | g.127421325G>T | CA348397726 | PROC | c.113G>T (p.Arg38Leu) c.78G>T (p.Ala26=) n.196G>T c.296G>T (p.Arg99Leu) c.176G>T (p.Arg59Leu) c.356G>T (p.Arg119Leu) c.197G>T (p.Arg66Leu) c.89G>T (p.Arg30Leu) c.107G>T (p.Arg36Leu) | |
2 | g.127421326G>A | CA428617366 | PROC | c.114G>A (p.Arg38=) c.79G>A (p.Asp27Asn) n.197G>A c.297G>A (p.Arg99=) c.177G>A (p.Arg59=) c.357G>A (p.Arg119=) c.198G>A (p.Arg66=) c.90G>A (p.Arg30=) c.108G>A (p.Arg36=) | |
2 | g.127421326G>C | CA428617367 | PROC | c.114G>C (p.Arg38=) c.79G>C (p.Asp27His) n.197G>C c.297G>C (p.Arg99=) c.177G>C (p.Arg59=) c.357G>C (p.Arg119=) c.198G>C (p.Arg66=) c.90G>C (p.Arg30=) c.108G>C (p.Arg36=) | |
2 | g.127421326G>T | CA428617368 | PROC | c.114G>T (p.Arg38=) c.79G>T (p.Asp27Tyr) n.197G>T c.297G>T (p.Arg99=) c.177G>T (p.Arg59=) c.357G>T (p.Arg119=) c.198G>T (p.Arg66=) c.90G>T (p.Arg30=) c.108G>T (p.Arg36=) | |
2 | g.127421326_127421328del | CA2519644138 | PROC | c.114_116del (p.Ile39del) c.79_81del (p.Asp27del) n.197_199del c.297_299del (p.Ile100del) c.177_179del (p.Ile60del) c.357_359del (p.Ile120del) c.198_200del (p.Ile67del) c.90_92del (p.Ile31del) c.108_110del (p.Ile37del) | |
2 | g.127421327A>C | CA348397727 | PROC | c.115A>C (p.Ile39Leu) c.80A>C (p.Asp27Ala) n.198A>C c.298A>C (p.Ile100Leu) c.178A>C (p.Ile60Leu) c.358A>C (p.Ile120Leu) c.199A>C (p.Ile67Leu) c.91A>C (p.Ile31Leu) c.109A>C (p.Ile37Leu) | |
2 | g.127421327A>G | CA348397728 | PROC | c.115A>G (p.Ile39Val) c.80A>G (p.Asp27Gly) n.198A>G c.298A>G (p.Ile100Val) c.178A>G (p.Ile60Val) c.358A>G (p.Ile120Val) c.199A>G (p.Ile67Val) c.91A>G (p.Ile31Val) c.109A>G (p.Ile37Val) | |
2 | g.127421327A>T | CA348397729 | PROC | c.115A>T (p.Ile39Phe) c.80A>T (p.Asp27Val) n.198A>T c.298A>T (p.Ile100Phe) c.178A>T (p.Ile60Phe) c.358A>T (p.Ile120Phe) c.199A>T (p.Ile67Phe) c.91A>T (p.Ile31Phe) c.109A>T (p.Ile37Phe) | |
2 | g.127421328T>A | CA348397732 | PROC | c.116T>A (p.Ile39Asn) c.81T>A (p.Asp27Glu) n.199T>A c.299T>A (p.Ile100Asn) c.179T>A (p.Ile60Asn) c.359T>A (p.Ile120Asn) c.200T>A (p.Ile67Asn) c.92T>A (p.Ile31Asn) c.110T>A (p.Ile37Asn) | |
2 | g.127421328T>C | CA348397731 | PROC | c.116T>C (p.Ile39Thr) c.81T>C (p.Asp27=) n.199T>C c.299T>C (p.Ile100Thr) c.179T>C (p.Ile60Thr) c.359T>C (p.Ile120Thr) c.200T>C (p.Ile67Thr) c.92T>C (p.Ile31Thr) c.110T>C (p.Ile37Thr) | |
2 | g.127421328T>G | CA348397730 | PROC | c.116T>G (p.Ile39Ser) c.81T>G (p.Asp27Glu) n.199T>G c.299T>G (p.Ile100Ser) c.179T>G (p.Ile60Ser) c.359T>G (p.Ile120Ser) c.200T>G (p.Ile67Ser) c.92T>G (p.Ile31Ser) c.110T>G (p.Ile37Ser) | |
2 | g.127421329C>A | CA428617369 | PROC | c.117C>A (p.Ile39=) c.82C>A (p.Pro28Thr) n.200C>A c.300C>A (p.Ile100=) c.180C>A (p.Ile60=) c.360C>A (p.Ile120=) c.201C>A (p.Ile67=) c.93C>A (p.Ile31=) c.111C>A (p.Ile37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421329C= | CA1286881633 | PROC | c.117C= (p.Ile39=) c.82C= (p.Pro28=) n.200C= c.300C= (p.Ile100=) c.180C= (p.Ile60=) c.360C= (p.Ile120=) c.201C= (p.Ile67=) c.93C= (p.Ile31=) c.111C= (p.Ile37=) | |
2 | g.127421329C>G | CA348397733 | PROC | c.117C>G (p.Ile39Met) c.82C>G (p.Pro28Ala) n.200C>G c.300C>G (p.Ile100Met) c.180C>G (p.Ile60Met) c.360C>G (p.Ile120Met) c.201C>G (p.Ile67Met) c.93C>G (p.Ile31Met) c.111C>G (p.Ile37Met) | |
2 | g.127421329C>T | CA428617371 | PROC | c.117C>T (p.Ile39=) c.82C>T (p.Pro28Ser) n.200C>T c.300C>T (p.Ile100=) c.180C>T (p.Ile60=) c.360C>T (p.Ile120=) c.201C>T (p.Ile67=) c.93C>T (p.Ile31=) c.111C>T (p.Ile37=) | |
2 | g.127421330_127421336del | CA2586969841 | PROC | c.118_124del (p.Arg40ValfsTer19) c.83_89del (p.Pro28ArgfsTer?) n.201_207del c.301_307del (p.Arg101ValfsTer19) c.181_187del (p.Arg61ValfsTer19) c.361_367del (p.Arg121ValfsTer19) c.202_208del (p.Arg68ValfsTer19) c.94_100del (p.Arg32ValfsTer19) c.112_118del (p.Arg38ValfsTer19) | |
2 | g.127421330C>A | CA348397734 | PROC | c.118C>A (p.Arg40Ser) c.83C>A (p.Pro28Gln) n.201C>A c.301C>A (p.Arg101Ser) c.181C>A (p.Arg61Ser) c.361C>A (p.Arg121Ser) c.202C>A (p.Arg68Ser) c.94C>A (p.Arg32Ser) c.112C>A (p.Arg38Ser) | |
2 | g.127421330C= | CA1286881635 | PROC | c.118C= (p.Arg40=) c.83C= (p.Pro28=) n.201C= c.301C= (p.Arg101=) c.181C= (p.Arg61=) c.361C= (p.Arg121=) c.202C= (p.Arg68=) c.94C= (p.Arg32=) c.112C= (p.Arg38=) | |
2 | g.127421330C>G | CA348397735 | PROC | c.118C>G (p.Arg40Gly) c.83C>G (p.Pro28Arg) n.201C>G c.301C>G (p.Arg101Gly) c.181C>G (p.Arg61Gly) c.361C>G (p.Arg121Gly) c.202C>G (p.Arg68Gly) c.94C>G (p.Arg32Gly) c.112C>G (p.Arg38Gly) | |
2 | g.127421330C>T | CA1859243 | PROC | c.118C>T (p.Arg40Cys) c.83C>T (p.Pro28Leu) n.201C>T c.301C>T (p.Arg101Cys) c.181C>T (p.Arg61Cys) c.361C>T (p.Arg121Cys) c.202C>T (p.Arg68Cys) c.94C>T (p.Arg32Cys) c.112C>T (p.Arg38Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127421331G>A | CA1859244 | PROC | c.119G>A (p.Arg40His) c.84G>A (p.Pro28=) n.202G>A c.302G>A (p.Arg101His) c.182G>A (p.Arg61His) c.362G>A (p.Arg121His) c.203G>A (p.Arg68His) c.95G>A (p.Arg32His) c.113G>A (p.Arg38His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127421331G>C | CA348397736 | PROC | c.119G>C (p.Arg40Pro) c.84G>C (p.Pro28=) n.202G>C c.302G>C (p.Arg101Pro) c.182G>C (p.Arg61Pro) c.362G>C (p.Arg121Pro) c.203G>C (p.Arg68Pro) c.95G>C (p.Arg32Pro) c.113G>C (p.Arg38Pro) | |
2 | g.127421331G= | CA1286881641 | PROC | c.119G= (p.Arg40=) c.84G= (p.Pro28=) n.202G= c.302G= (p.Arg101=) c.182G= (p.Arg61=) c.362G= (p.Arg121=) c.203G= (p.Arg68=) c.95G= (p.Arg32=) c.113G= (p.Arg38=) | |
2 | g.127421331G>T | CA348397737 | PROC | c.119G>T (p.Arg40Leu) c.84G>T (p.Pro28=) n.202G>T c.302G>T (p.Arg101Leu) c.182G>T (p.Arg61Leu) c.362G>T (p.Arg121Leu) c.203G>T (p.Arg68Leu) c.95G>T (p.Arg32Leu) c.113G>T (p.Arg38Leu) | gnomAD v4 |
2 | g.127421332C>A | CA428617377 | PROC | c.120C>A (p.Arg40=) c.85C>A (p.Gln29Lys) n.203C>A c.303C>A (p.Arg101=) c.183C>A (p.Arg61=) c.363C>A (p.Arg121=) c.204C>A (p.Arg68=) c.96C>A (p.Arg32=) c.114C>A (p.Arg38=) | |
2 | g.127421332C>G | CA428617376 | PROC | c.120C>G (p.Arg40=) c.85C>G (p.Gln29Glu) n.203C>G c.303C>G (p.Arg101=) c.183C>G (p.Arg61=) c.363C>G (p.Arg121=) c.204C>G (p.Arg68=) c.96C>G (p.Arg32=) c.114C>G (p.Arg38=) | |
2 | g.127421332C>T | CA428617374 | PROC | c.120C>T (p.Arg40=) c.85C>T (p.Gln29Ter) n.203C>T c.303C>T (p.Arg101=) c.183C>T (p.Arg61=) c.363C>T (p.Arg121=) c.204C>T (p.Arg68=) c.96C>T (p.Arg32=) c.114C>T (p.Arg38=) | |
2 | g.127421333A>C | CA348397740 | PROC | c.121A>C (p.Lys41Gln) c.86A>C (p.Gln29Pro) n.204A>C c.304A>C (p.Lys102Gln) c.184A>C (p.Lys62Gln) c.364A>C (p.Lys122Gln) c.205A>C (p.Lys69Gln) c.97A>C (p.Lys33Gln) c.115A>C (p.Lys39Gln) | |
2 | g.127421333A>G | CA348397738 | PROC | c.121A>G (p.Lys41Glu) c.86A>G (p.Gln29Arg) n.204A>G c.304A>G (p.Lys102Glu) c.184A>G (p.Lys62Glu) c.364A>G (p.Lys122Glu) c.205A>G (p.Lys69Glu) c.97A>G (p.Lys33Glu) c.115A>G (p.Lys39Glu) | |
2 | g.127421333A>T | CA348397739 | PROC | c.121A>T (p.Lys41Ter) c.86A>T (p.Gln29Leu) n.204A>T c.304A>T (p.Lys102Ter) c.184A>T (p.Lys62Ter) c.364A>T (p.Lys122Ter) c.205A>T (p.Lys69Ter) c.97A>T (p.Lys33Ter) c.115A>T (p.Lys39Ter) | |
2 | g.127421334A>C | CA348397741 | PROC | c.122A>C (p.Lys41Thr) c.87A>C (p.Gln29His) n.205A>C c.305A>C (p.Lys102Thr) c.185A>C (p.Lys62Thr) c.365A>C (p.Lys122Thr) c.206A>C (p.Lys69Thr) c.98A>C (p.Lys33Thr) c.116A>C (p.Lys39Thr) | |
2 | g.127421334A>G | CA348397742 | PROC | c.122A>G (p.Lys41Arg) c.87A>G (p.Gln29=) n.205A>G c.305A>G (p.Lys102Arg) c.185A>G (p.Lys62Arg) c.365A>G (p.Lys122Arg) c.206A>G (p.Lys69Arg) c.98A>G (p.Lys33Arg) c.116A>G (p.Lys39Arg) | |
2 | g.127421334A>T | CA348397743 | PROC | c.122A>T (p.Lys41Ile) c.87A>T (p.Gln29His) n.205A>T c.305A>T (p.Lys102Ile) c.185A>T (p.Lys62Ile) c.365A>T (p.Lys122Ile) c.206A>T (p.Lys69Ile) c.98A>T (p.Lys33Ile) c.116A>T (p.Lys39Ile) | |
2 | g.127421335A>C | CA348397744 | PROC | c.123A>C (p.Lys41Asn) c.88A>C (p.Thr30Pro) n.206A>C c.306A>C (p.Lys102Asn) c.186A>C (p.Lys62Asn) c.366A>C (p.Lys122Asn) c.207A>C (p.Lys69Asn) c.99A>C (p.Lys33Asn) c.117A>C (p.Lys39Asn) | |
2 | g.127421335A>G | CA428617378 | PROC | c.123A>G (p.Lys41=) c.88A>G (p.Thr30Ala) n.206A>G c.306A>G (p.Lys102=) c.186A>G (p.Lys62=) c.366A>G (p.Lys122=) c.207A>G (p.Lys69=) c.99A>G (p.Lys33=) c.117A>G (p.Lys39=) | |
2 | g.127421335A>T | CA348397745 | PROC | c.123A>T (p.Lys41Asn) c.88A>T (p.Thr30Ser) n.206A>T c.306A>T (p.Lys102Asn) c.186A>T (p.Lys62Asn) c.366A>T (p.Lys122Asn) c.207A>T (p.Lys69Asn) c.99A>T (p.Lys33Asn) c.117A>T (p.Lys39Asn) | |
2 | g.127421336C>A | CA348397746 | PROC | c.124C>A (p.Arg42Ser) c.89C>A (p.Thr30Lys) n.207C>A c.307C>A (p.Arg103Ser) c.187C>A (p.Arg63Ser) c.367C>A (p.Arg123Ser) c.208C>A (p.Arg70Ser) c.100C>A (p.Arg34Ser) c.118C>A (p.Arg40Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421336C= | CA1286881645 | PROC | c.124C= (p.Arg42=) c.89C= (p.Thr30=) n.207C= c.307C= (p.Arg103=) c.187C= (p.Arg63=) c.367C= (p.Arg123=) c.208C= (p.Arg70=) c.100C= (p.Arg34=) c.118C= (p.Arg40=) | |
2 | g.127421336C>G | CA348397747 | PROC | c.124C>G (p.Arg42Gly) c.89C>G (p.Thr30Arg) n.207C>G c.307C>G (p.Arg103Gly) c.187C>G (p.Arg63Gly) c.367C>G (p.Arg123Gly) c.208C>G (p.Arg70Gly) c.100C>G (p.Arg34Gly) c.118C>G (p.Arg40Gly) | |
2 | g.127421336C>T | CA1859245 | PROC | c.124C>T (p.Arg42Cys) c.89C>T (p.Thr30Met) n.207C>T c.307C>T (p.Arg103Cys) c.187C>T (p.Arg63Cys) c.367C>T (p.Arg123Cys) c.208C>T (p.Arg70Cys) c.100C>T (p.Arg34Cys) c.118C>T (p.Arg40Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421337G>A | CA211707 | PROC | c.125G>A (p.Arg42His) c.90G>A (p.Thr30=) n.208G>A c.308G>A (p.Arg103His) c.188G>A (p.Arg63His) c.368G>A (p.Arg123His) c.209G>A (p.Arg70His) c.101G>A (p.Arg34His) c.119G>A (p.Arg40His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421337G>C | CA348397748 | PROC | c.125G>C (p.Arg42Pro) c.90G>C (p.Thr30=) n.208G>C c.308G>C (p.Arg103Pro) c.188G>C (p.Arg63Pro) c.368G>C (p.Arg123Pro) c.209G>C (p.Arg70Pro) c.101G>C (p.Arg34Pro) c.119G>C (p.Arg40Pro) | |
2 | g.127421337G= | CA1286881651 | PROC | c.125G= (p.Arg42=) c.90G= (p.Thr30=) n.208G= c.308G= (p.Arg103=) c.188G= (p.Arg63=) c.368G= (p.Arg123=) c.209G= (p.Arg70=) c.101G= (p.Arg34=) c.119G= (p.Arg40=) | |
2 | g.127421337G>T | CA348397749 | PROC | c.125G>T (p.Arg42Leu) c.90G>T (p.Thr30=) n.208G>T c.308G>T (p.Arg103Leu) c.188G>T (p.Arg63Leu) c.368G>T (p.Arg123Leu) c.209G>T (p.Arg70Leu) c.101G>T (p.Arg34Leu) c.119G>T (p.Arg40Leu) | dbSNP gnomAD v4 |
2 | g.127421338T>A | CA428617379 | PROC | c.126T>A (p.Arg42=) c.91T>A (p.Cys31Ser) n.209T>A c.309T>A (p.Arg103=) c.189T>A (p.Arg63=) c.369T>A (p.Arg123=) c.210T>A (p.Arg70=) c.102T>A (p.Arg34=) c.120T>A (p.Arg40=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421338T>C | CA428617381 | PROC | c.126T>C (p.Arg42=) c.91T>C (p.Cys31Arg) n.209T>C c.309T>C (p.Arg103=) c.189T>C (p.Arg63=) c.369T>C (p.Arg123=) c.210T>C (p.Arg70=) c.102T>C (p.Arg34=) c.120T>C (p.Arg40=) | |
2 | g.127421338T>G | CA428617380 | PROC | c.126T>G (p.Arg42=) c.91T>G (p.Cys31Gly) n.209T>G c.309T>G (p.Arg103=) c.189T>G (p.Arg63=) c.369T>G (p.Arg123=) c.210T>G (p.Arg70=) c.102T>G (p.Arg34=) c.120T>G (p.Arg40=) | |
2 | g.127421338T= | CA1286881657 | PROC | c.126T= (p.Arg42=) c.91T= (p.Cys31=) n.209T= c.309T= (p.Arg103=) c.189T= (p.Arg63=) c.369T= (p.Arg123=) c.210T= (p.Arg70=) c.102T= (p.Arg34=) c.120T= (p.Arg40=) | |
2 | g.127421339G>A | CA1859246 | PROC | c.127G>A (p.Ala43Thr) c.92G>A (p.Cys31Tyr) n.210G>A c.310G>A (p.Ala104Thr) c.190G>A (p.Ala64Thr) c.370G>A (p.Ala124Thr) c.211G>A (p.Ala71Thr) c.103G>A (p.Ala35Thr) c.121G>A (p.Ala41Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421339G>C | CA348397750 | PROC | c.127G>C (p.Ala43Pro) c.92G>C (p.Cys31Ser) n.210G>C c.310G>C (p.Ala104Pro) c.190G>C (p.Ala64Pro) c.370G>C (p.Ala124Pro) c.211G>C (p.Ala71Pro) c.103G>C (p.Ala35Pro) c.121G>C (p.Ala41Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421339G= | CA1286881661 | PROC | c.127G= (p.Ala43=) c.92G= (p.Cys31=) n.210G= c.310G= (p.Ala104=) c.190G= (p.Ala64=) c.370G= (p.Ala124=) c.211G= (p.Ala71=) c.103G= (p.Ala35=) c.121G= (p.Ala41=) | |
2 | g.127421339G>T | CA348397751 | PROC | c.127G>T (p.Ala43Ser) c.92G>T (p.Cys31Phe) n.210G>T c.310G>T (p.Ala104Ser) c.190G>T (p.Ala64Ser) c.370G>T (p.Ala124Ser) c.211G>T (p.Ala71Ser) c.103G>T (p.Ala35Ser) c.121G>T (p.Ala41Ser) | |
2 | g.127421340C>A | CA348397752 | PROC | c.128C>A (p.Ala43Asp) c.93C>A (p.Cys31Ter) n.211C>A c.311C>A (p.Ala104Asp) c.191C>A (p.Ala64Asp) c.371C>A (p.Ala124Asp) c.212C>A (p.Ala71Asp) c.104C>A (p.Ala35Asp) c.122C>A (p.Ala41Asp) | gnomAD v4 |
2 | g.127421340C>G | CA348397753 | PROC | c.128C>G (p.Ala43Gly) c.93C>G (p.Cys31Trp) n.211C>G c.311C>G (p.Ala104Gly) c.191C>G (p.Ala64Gly) c.371C>G (p.Ala124Gly) c.212C>G (p.Ala71Gly) c.104C>G (p.Ala35Gly) c.122C>G (p.Ala41Gly) | |
2 | g.127421340C>T | CA348397754 | PROC | c.128C>T (p.Ala43Val) c.93C>T (p.Cys31=) n.211C>T c.311C>T (p.Ala104Val) c.191C>T (p.Ala64Val) c.371C>T (p.Ala124Val) c.212C>T (p.Ala71Val) c.104C>T (p.Ala35Val) c.122C>T (p.Ala41Val) | |
2 | g.127421341C>A | CA428617384 | PROC | c.129C>A (p.Ala43=) c.94C>A (p.Gln32Lys) n.212C>A c.312C>A (p.Ala104=) c.192C>A (p.Ala64=) c.372C>A (p.Ala124=) c.213C>A (p.Ala71=) c.105C>A (p.Ala35=) c.123C>A (p.Ala41=) | |
2 | g.127421341C= | CA1286881665 | PROC | c.129C= (p.Ala43=) c.94C= (p.Gln32=) n.212C= c.312C= (p.Ala104=) c.192C= (p.Ala64=) c.372C= (p.Ala124=) c.213C= (p.Ala71=) c.105C= (p.Ala35=) c.123C= (p.Ala41=) | |
2 | g.127421341C>G | CA428617385 | PROC | c.129C>G (p.Ala43=) c.94C>G (p.Gln32Glu) n.212C>G c.312C>G (p.Ala104=) c.192C>G (p.Ala64=) c.372C>G (p.Ala124=) c.213C>G (p.Ala71=) c.105C>G (p.Ala35=) c.123C>G (p.Ala41=) | |
2 | g.127421341C>T | CA55342934 | PROC | c.129C>T (p.Ala43=) c.94C>T (p.Gln32Ter) n.212C>T c.312C>T (p.Ala104=) c.192C>T (p.Ala64=) c.372C>T (p.Ala124=) c.213C>T (p.Ala71=) c.105C>T (p.Ala35=) c.123C>T (p.Ala41=) | dbSNP |
2 | g.127421342A= | CA1286881669 | PROC | c.130A= (p.Asn44=) c.95A= (p.Gln32=) n.213A= c.313A= (p.Asn105=) c.193A= (p.Asn65=) c.373A= (p.Asn125=) c.214A= (p.Asn72=) c.106A= (p.Asn36=) c.124A= (p.Asn42=) | |
2 | g.127421342A>C | CA348397755 | PROC | c.130A>C (p.Asn44His) c.95A>C (p.Gln32Pro) n.213A>C c.313A>C (p.Asn105His) c.193A>C (p.Asn65His) c.373A>C (p.Asn125His) c.214A>C (p.Asn72His) c.106A>C (p.Asn36His) c.124A>C (p.Asn42His) | dbSNP |
2 | g.127421342A>G | CA348397756 | PROC | c.130A>G (p.Asn44Asp) c.95A>G (p.Gln32Arg) n.213A>G c.313A>G (p.Asn105Asp) c.193A>G (p.Asn65Asp) c.373A>G (p.Asn125Asp) c.214A>G (p.Asn72Asp) c.106A>G (p.Asn36Asp) c.124A>G (p.Asn42Asp) | |
2 | g.127421342A>T | CA348397757 | PROC | c.130A>T (p.Asn44Tyr) c.95A>T (p.Gln32Leu) n.213A>T c.313A>T (p.Asn105Tyr) c.193A>T (p.Asn65Tyr) c.373A>T (p.Asn125Tyr) c.214A>T (p.Asn72Tyr) c.106A>T (p.Asn36Tyr) c.124A>T (p.Asn42Tyr) | |
2 | g.127421343A= | CA1286881672 | PROC | c.131A= (p.Asn44=) c.96A= (p.Gln32=) n.214A= c.314A= (p.Asn105=) c.194A= (p.Asn65=) c.374A= (p.Asn125=) c.215A= (p.Asn72=) c.107A= (p.Asn36=) c.125A= (p.Asn42=) | |
2 | g.127421343A>C | CA348397760 | PROC | c.131A>C (p.Asn44Thr) c.96A>C (p.Gln32His) n.214A>C c.314A>C (p.Asn105Thr) c.194A>C (p.Asn65Thr) c.374A>C (p.Asn125Thr) c.215A>C (p.Asn72Thr) c.107A>C (p.Asn36Thr) c.125A>C (p.Asn42Thr) | |
2 | g.127421343A>G | CA348397759 | PROC | c.131A>G (p.Asn44Ser) c.96A>G (p.Gln32=) n.214A>G c.314A>G (p.Asn105Ser) c.194A>G (p.Asn65Ser) c.374A>G (p.Asn125Ser) c.215A>G (p.Asn72Ser) c.107A>G (p.Asn36Ser) c.125A>G (p.Asn42Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421343A>T | CA348397758 | PROC | c.131A>T (p.Asn44Ile) c.96A>T (p.Gln32His) n.214A>T c.314A>T (p.Asn105Ile) c.194A>T (p.Asn65Ile) c.374A>T (p.Asn125Ile) c.215A>T (p.Asn72Ile) c.107A>T (p.Asn36Ile) c.125A>T (p.Asn42Ile) | |
2 | g.127421344C>A | CA348397761 | PROC | c.132C>A (p.Asn44Lys) c.97C>A (p.Leu33Ile) n.215C>A c.315C>A (p.Asn105Lys) c.195C>A (p.Asn65Lys) c.375C>A (p.Asn125Lys) c.216C>A (p.Asn72Lys) c.108C>A (p.Asn36Lys) c.126C>A (p.Asn42Lys) | |
2 | g.127421344C= | CA1286881674 | PROC | c.132C= (p.Asn44=) c.97C= (p.Leu33=) n.215C= c.315C= (p.Asn105=) c.195C= (p.Asn65=) c.375C= (p.Asn125=) c.216C= (p.Asn72=) c.108C= (p.Asn36=) c.126C= (p.Asn42=) | |
2 | g.127421344C>G | CA348397762 | PROC | c.132C>G (p.Asn44Lys) c.97C>G (p.Leu33Val) n.215C>G c.315C>G (p.Asn105Lys) c.195C>G (p.Asn65Lys) c.375C>G (p.Asn125Lys) c.216C>G (p.Asn72Lys) c.108C>G (p.Asn36Lys) c.126C>G (p.Asn42Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421344C>T | CA1859247 | PROC | c.132C>T (p.Asn44=) c.97C>T (p.Leu33Phe) n.215C>T c.315C>T (p.Asn105=) c.195C>T (p.Asn65=) c.375C>T (p.Asn125=) c.216C>T (p.Asn72=) c.108C>T (p.Asn36=) c.126C>T (p.Asn42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127421345T>A | CA348397763 | PROC | c.133T>A (p.Ser45Thr) c.98T>A (p.Leu33His) n.216T>A c.316T>A (p.Ser106Thr) c.196T>A (p.Ser66Thr) c.376T>A (p.Ser126Thr) c.217T>A (p.Ser73Thr) c.109T>A (p.Ser37Thr) c.127T>A (p.Ser43Thr) | |
2 | g.127421345T>C | CA348397765 | PROC | c.133T>C (p.Ser45Pro) c.98T>C (p.Leu33Pro) n.216T>C c.316T>C (p.Ser106Pro) c.196T>C (p.Ser66Pro) c.376T>C (p.Ser126Pro) c.217T>C (p.Ser73Pro) c.109T>C (p.Ser37Pro) c.127T>C (p.Ser43Pro) | gnomAD v4 |
2 | g.127421345T>G | CA348397767 | PROC | c.133T>G (p.Ser45Ala) c.98T>G (p.Leu33Arg) n.216T>G c.316T>G (p.Ser106Ala) c.196T>G (p.Ser66Ala) c.376T>G (p.Ser126Ala) c.217T>G (p.Ser73Ala) c.109T>G (p.Ser37Ala) c.127T>G (p.Ser43Ala) | |
2 | g.127421346C>A | CA348397770 | PROC | c.134C>A (p.Ser45Tyr) c.99C>A (p.Leu33=) n.217C>A c.317C>A (p.Ser106Tyr) c.197C>A (p.Ser66Tyr) c.377C>A (p.Ser126Tyr) c.218C>A (p.Ser73Tyr) c.110C>A (p.Ser37Tyr) c.128C>A (p.Ser43Tyr) | |
2 | g.127421346C>G | CA348397772 | PROC | c.134C>G (p.Ser45Cys) c.99C>G (p.Leu33=) n.217C>G c.317C>G (p.Ser106Cys) c.197C>G (p.Ser66Cys) c.377C>G (p.Ser126Cys) c.218C>G (p.Ser73Cys) c.110C>G (p.Ser37Cys) c.128C>G (p.Ser43Cys) | |
2 | g.127421346C>T | CA348397774 | PROC | c.134C>T (p.Ser45Phe) c.99C>T (p.Leu33=) n.217C>T c.317C>T (p.Ser106Phe) c.197C>T (p.Ser66Phe) c.377C>T (p.Ser126Phe) c.218C>T (p.Ser73Phe) c.110C>T (p.Ser37Phe) c.128C>T (p.Ser43Phe) | gnomAD v4 |
2 | g.127421347C>A | CA428617394 | PROC | c.135C>A (p.Ser45=) c.100C>A (p.Leu34Ile) n.218C>A c.318C>A (p.Ser106=) c.198C>A (p.Ser66=) c.378C>A (p.Ser126=) c.219C>A (p.Ser73=) c.111C>A (p.Ser37=) c.129C>A (p.Ser43=) | |
2 | g.127421347C= | CA1286881677 | PROC | c.135C= (p.Ser45=) c.100C= (p.Leu34=) n.218C= c.318C= (p.Ser106=) c.198C= (p.Ser66=) c.378C= (p.Ser126=) c.219C= (p.Ser73=) c.111C= (p.Ser37=) c.129C= (p.Ser43=) | |
2 | g.127421347C>G | CA428617395 | PROC | c.135C>G (p.Ser45=) c.100C>G (p.Leu34Val) n.218C>G c.318C>G (p.Ser106=) c.198C>G (p.Ser66=) c.378C>G (p.Ser126=) c.219C>G (p.Ser73=) c.111C>G (p.Ser37=) c.129C>G (p.Ser43=) | |
2 | g.127421347C>T | CA428617396 | PROC | c.135C>T (p.Ser45=) c.100C>T (p.Leu34Phe) n.218C>T c.318C>T (p.Ser106=) c.198C>T (p.Ser66=) c.378C>T (p.Ser126=) c.219C>T (p.Ser73=) c.111C>T (p.Ser37=) c.129C>T (p.Ser43=) | dbSNP |
2 | g.127421348_127421350del | CA2660995649 | PROC | c.136_138del (p.Phe46del) c.101_103del (p.Leu34del) n.219_221del c.319_321del (p.Phe107del) c.199_201del (p.Phe67del) c.379_381del (p.Phe127del) c.220_222del (p.Phe74del) c.112_114del (p.Phe38del) c.130_132del (p.Phe44del) | gnomAD v4 |
2 | g.127421348T>A | CA348397777 | PROC | c.136T>A (p.Phe46Ile) c.101T>A (p.Leu34His) n.219T>A c.319T>A (p.Phe107Ile) c.199T>A (p.Phe67Ile) c.379T>A (p.Phe127Ile) c.220T>A (p.Phe74Ile) c.112T>A (p.Phe38Ile) c.130T>A (p.Phe44Ile) | |
2 | g.127421348T>C | CA348397779 | PROC | c.136T>C (p.Phe46Leu) c.101T>C (p.Leu34Pro) n.219T>C c.319T>C (p.Phe107Leu) c.199T>C (p.Phe67Leu) c.379T>C (p.Phe127Leu) c.220T>C (p.Phe74Leu) c.112T>C (p.Phe38Leu) c.130T>C (p.Phe44Leu) | dbSNP |
2 | g.127421348T>G | CA348397781 | PROC | c.136T>G (p.Phe46Val) c.101T>G (p.Leu34Arg) n.219T>G c.319T>G (p.Phe107Val) c.199T>G (p.Phe67Val) c.379T>G (p.Phe127Val) c.220T>G (p.Phe74Val) c.112T>G (p.Phe38Val) c.130T>G (p.Phe44Val) | |
2 | g.127421348T= | CA1286881680 | PROC | c.136T= (p.Phe46=) c.101T= (p.Leu34=) n.219T= c.319T= (p.Phe107=) c.199T= (p.Phe67=) c.379T= (p.Phe127=) c.220T= (p.Phe74=) c.112T= (p.Phe38=) c.130T= (p.Phe44=) | |
2 | g.127421349del | CA2586969842 | PROC | c.137del (p.Phe46SerfsTer15) c.102del (p.Pro35LeufsTer?) n.220del c.320del (p.Phe107SerfsTer15) c.200del (p.Phe67SerfsTer15) c.380del (p.Phe127SerfsTer15) c.221del (p.Phe74SerfsTer15) c.113del (p.Phe38SerfsTer15) c.131del (p.Phe44SerfsTer15) | |
2 | g.127421349T>A | CA348397782 | PROC | c.137T>A (p.Phe46Tyr) c.102T>A (p.Leu34=) n.220T>A c.320T>A (p.Phe107Tyr) c.200T>A (p.Phe67Tyr) c.380T>A (p.Phe127Tyr) c.221T>A (p.Phe74Tyr) c.113T>A (p.Phe38Tyr) c.131T>A (p.Phe44Tyr) | |
2 | g.127421349T>C | CA348397783 | PROC | c.137T>C (p.Phe46Ser) c.102T>C (p.Leu34=) n.220T>C c.320T>C (p.Phe107Ser) c.200T>C (p.Phe67Ser) c.380T>C (p.Phe127Ser) c.221T>C (p.Phe74Ser) c.113T>C (p.Phe38Ser) c.131T>C (p.Phe44Ser) | |
2 | g.127421349T>G | CA348397791 | PROC | c.137T>G (p.Phe46Cys) c.102T>G (p.Leu34=) n.220T>G c.320T>G (p.Phe107Cys) c.200T>G (p.Phe67Cys) c.380T>G (p.Phe127Cys) c.221T>G (p.Phe74Cys) c.113T>G (p.Phe38Cys) c.131T>G (p.Phe44Cys) | |
2 | g.127421350C>A | CA348397793 | PROC | c.138C>A (p.Phe46Leu) c.103C>A (p.Pro35Thr) n.221C>A c.321C>A (p.Phe107Leu) c.201C>A (p.Phe67Leu) c.381C>A (p.Phe127Leu) c.222C>A (p.Phe74Leu) c.114C>A (p.Phe38Leu) c.132C>A (p.Phe44Leu) | |
2 | g.127421350C= | CA1286881683 | PROC | c.138C= (p.Phe46=) c.103C= (p.Pro35=) n.221C= c.321C= (p.Phe107=) c.201C= (p.Phe67=) c.381C= (p.Phe127=) c.222C= (p.Phe74=) c.114C= (p.Phe38=) c.132C= (p.Phe44=) | |
2 | g.127421350C>G | CA1859248 | PROC | c.138C>G (p.Phe46Leu) c.103C>G (p.Pro35Ala) n.221C>G c.321C>G (p.Phe107Leu) c.201C>G (p.Phe67Leu) c.381C>G (p.Phe127Leu) c.222C>G (p.Phe74Leu) c.114C>G (p.Phe38Leu) c.132C>G (p.Phe44Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421350C>T | CA428617399 | PROC | c.138C>T (p.Phe46=) c.103C>T (p.Pro35Ser) n.221C>T c.321C>T (p.Phe107=) c.201C>T (p.Phe67=) c.381C>T (p.Phe127=) c.222C>T (p.Phe74=) c.114C>T (p.Phe38=) c.132C>T (p.Phe44=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421351C>A | CA348397798 | PROC | c.139C>A (p.Leu47Met) c.104C>A (p.Pro35His) n.222C>A c.322C>A (p.Leu108Met) c.202C>A (p.Leu68Met) c.382C>A (p.Leu128Met) c.223C>A (p.Leu75Met) c.115C>A (p.Leu39Met) c.133C>A (p.Leu45Met) | |
2 | g.127421351C>G | CA348397800 | PROC | c.139C>G (p.Leu47Val) c.104C>G (p.Pro35Arg) n.222C>G c.322C>G (p.Leu108Val) c.202C>G (p.Leu68Val) c.382C>G (p.Leu128Val) c.223C>G (p.Leu75Val) c.115C>G (p.Leu39Val) c.133C>G (p.Leu45Val) | gnomAD v4 |
2 | g.127421351C>T | CA428617401 | PROC | c.139C>T (p.Leu47=) c.104C>T (p.Pro35Leu) n.222C>T c.322C>T (p.Leu108=) c.202C>T (p.Leu68=) c.382C>T (p.Leu128=) c.223C>T (p.Leu75=) c.115C>T (p.Leu39=) c.133C>T (p.Leu45=) | ClinVar dbSNP |
2 | g.127421352T>A | CA348397806 | PROC | c.140T>A (p.Leu47Gln) c.105T>A (p.Pro35=) n.223T>A c.323T>A (p.Leu108Gln) c.203T>A (p.Leu68Gln) c.383T>A (p.Leu128Gln) c.224T>A (p.Leu75Gln) c.116T>A (p.Leu39Gln) c.134T>A (p.Leu45Gln) | |
2 | g.127421352T>C | CA348397809 | PROC | c.140T>C (p.Leu47Pro) c.105T>C (p.Pro35=) n.223T>C c.323T>C (p.Leu108Pro) c.203T>C (p.Leu68Pro) c.383T>C (p.Leu128Pro) c.224T>C (p.Leu75Pro) c.116T>C (p.Leu39Pro) c.134T>C (p.Leu45Pro) | |
2 | g.127421352T>G | CA348397811 | PROC | c.140T>G (p.Leu47Arg) c.105T>G (p.Pro35=) n.223T>G c.323T>G (p.Leu108Arg) c.203T>G (p.Leu68Arg) c.383T>G (p.Leu128Arg) c.224T>G (p.Leu75Arg) c.116T>G (p.Leu39Arg) c.134T>G (p.Leu45Arg) | |
2 | g.127421353G>A | CA428617406 | PROC | c.141G>A (p.Leu47=) c.106G>A (p.Gly36Arg) n.224G>A c.324G>A (p.Leu108=) c.204G>A (p.Leu68=) c.384G>A (p.Leu128=) c.225G>A (p.Leu75=) c.117G>A (p.Leu39=) c.135G>A (p.Leu45=) | |
2 | g.127421353G>C | CA428617407 | PROC | c.141G>C (p.Leu47=) c.106G>C (p.Gly36Arg) n.224G>C c.324G>C (p.Leu108=) c.204G>C (p.Leu68=) c.384G>C (p.Leu128=) c.225G>C (p.Leu75=) c.117G>C (p.Leu39=) c.135G>C (p.Leu45=) | |
2 | g.127421353G>T | CA428617405 | PROC | c.141G>T (p.Leu47=) c.106G>T (p.Gly36Ter) n.224G>T c.324G>T (p.Leu108=) c.204G>T (p.Leu68=) c.384G>T (p.Leu128=) c.225G>T (p.Leu75=) c.117G>T (p.Leu39=) c.135G>T (p.Leu45=) | |
2 | g.127421354G>A | CA348397814 | PROC | c.142G>A (p.Glu48Lys) c.107G>A (p.Gly36Glu) n.225G>A c.325G>A (p.Glu109Lys) c.205G>A (p.Glu69Lys) c.385G>A (p.Glu129Lys) c.226G>A (p.Glu76Lys) c.118G>A (p.Glu40Lys) c.136G>A (p.Glu46Lys) | gnomAD v4 |
2 | g.127421354G>C | CA348397816 | PROC | c.142G>C (p.Glu48Gln) c.107G>C (p.Gly36Ala) n.225G>C c.325G>C (p.Glu109Gln) c.205G>C (p.Glu69Gln) c.385G>C (p.Glu129Gln) c.226G>C (p.Glu76Gln) c.118G>C (p.Glu40Gln) c.136G>C (p.Glu46Gln) | |
2 | g.127421354G>T | CA348397817 | PROC | c.142G>T (p.Glu48Ter) c.107G>T (p.Gly36Val) n.225G>T c.325G>T (p.Glu109Ter) c.205G>T (p.Glu69Ter) c.385G>T (p.Glu129Ter) c.226G>T (p.Glu76Ter) c.118G>T (p.Glu40Ter) c.136G>T (p.Glu46Ter) | |
2 | g.127421355del | CA2586969843 | PROC | c.143del (p.Glu48GlyfsTer13) c.108del (p.Gly37GlufsTer?) n.226del c.326del (p.Glu109GlyfsTer13) c.206del (p.Glu69GlyfsTer13) c.386del (p.Glu129GlyfsTer13) c.227del (p.Glu76GlyfsTer13) c.119del (p.Glu40GlyfsTer13) c.137del (p.Glu46GlyfsTer13) | |
2 | g.127421355A>C | CA348397818 | PROC | c.143A>C (p.Glu48Ala) c.108A>C (p.Gly36=) n.226A>C c.326A>C (p.Glu109Ala) c.206A>C (p.Glu69Ala) c.386A>C (p.Glu129Ala) c.227A>C (p.Glu76Ala) c.119A>C (p.Glu40Ala) c.137A>C (p.Glu46Ala) | |
2 | g.127421355A>G | CA348397819 | PROC | c.143A>G (p.Glu48Gly) c.108A>G (p.Gly36=) n.226A>G c.326A>G (p.Glu109Gly) c.206A>G (p.Glu69Gly) c.386A>G (p.Glu129Gly) c.227A>G (p.Glu76Gly) c.119A>G (p.Glu40Gly) c.137A>G (p.Glu46Gly) | |
2 | g.127421355A>T | CA348397820 | PROC | c.143A>T (p.Glu48Val) c.108A>T (p.Gly36=) n.226A>T c.326A>T (p.Glu109Val) c.206A>T (p.Glu69Val) c.386A>T (p.Glu129Val) c.227A>T (p.Glu76Val) c.119A>T (p.Glu40Val) c.137A>T (p.Glu46Val) | |
2 | g.127421356G>A | CA428617411 | PROC | c.144G>A (p.Glu48=) c.109G>A (p.Gly37Arg) n.227G>A c.327G>A (p.Glu109=) c.207G>A (p.Glu69=) c.387G>A (p.Glu129=) c.228G>A (p.Glu76=) c.120G>A (p.Glu40=) c.138G>A (p.Glu46=) | ClinVar |
2 | g.127421356G>C | CA348397822 | PROC | c.144G>C (p.Glu48Asp) c.109G>C (p.Gly37Arg) n.227G>C c.327G>C (p.Glu109Asp) c.207G>C (p.Glu69Asp) c.387G>C (p.Glu129Asp) c.228G>C (p.Glu76Asp) c.120G>C (p.Glu40Asp) c.138G>C (p.Glu46Asp) | |
2 | g.127421356G>T | CA348397823 | PROC | c.144G>T (p.Glu48Asp) c.109G>T (p.Gly37Ter) n.227G>T c.327G>T (p.Glu109Asp) c.207G>T (p.Glu69Asp) c.387G>T (p.Glu129Asp) c.228G>T (p.Glu76Asp) c.120G>T (p.Glu40Asp) c.138G>T (p.Glu46Asp) | |
2 | g.127421357G>A | CA348397830 | PROC | c.145G>A (p.Glu49Lys) c.110G>A (p.Gly37Glu) n.228G>A c.328G>A (p.Glu110Lys) c.208G>A (p.Glu70Lys) c.388G>A (p.Glu130Lys) c.229G>A (p.Glu77Lys) c.121G>A (p.Glu41Lys) c.139G>A (p.Glu47Lys) | |
2 | g.127421357G>C | CA348397826 | PROC | c.145G>C (p.Glu49Gln) c.110G>C (p.Gly37Ala) n.228G>C c.328G>C (p.Glu110Gln) c.208G>C (p.Glu70Gln) c.388G>C (p.Glu130Gln) c.229G>C (p.Glu77Gln) c.121G>C (p.Glu41Gln) c.139G>C (p.Glu47Gln) | |
2 | g.127421357G>T | CA348397828 | PROC | c.145G>T (p.Glu49Ter) c.110G>T (p.Gly37Val) n.228G>T c.328G>T (p.Glu110Ter) c.208G>T (p.Glu70Ter) c.388G>T (p.Glu130Ter) c.229G>T (p.Glu77Ter) c.121G>T (p.Glu41Ter) c.139G>T (p.Glu47Ter) | |
2 | g.127421358A>C | CA348397838 | PROC | c.146A>C (p.Glu49Ala) c.111A>C (p.Gly37=) n.229A>C c.329A>C (p.Glu110Ala) c.209A>C (p.Glu70Ala) c.389A>C (p.Glu130Ala) c.230A>C (p.Glu77Ala) c.122A>C (p.Glu41Ala) c.140A>C (p.Glu47Ala) | |
2 | g.127421358A>G | CA348397839 | PROC | c.146A>G (p.Glu49Gly) c.111A>G (p.Gly37=) n.229A>G c.329A>G (p.Glu110Gly) c.209A>G (p.Glu70Gly) c.389A>G (p.Glu130Gly) c.230A>G (p.Glu77Gly) c.122A>G (p.Glu41Gly) c.140A>G (p.Glu47Gly) | |
2 | g.127421358A>T | CA348397841 | PROC | c.146A>T (p.Glu49Val) c.111A>T (p.Gly37=) n.229A>T c.329A>T (p.Glu110Val) c.209A>T (p.Glu70Val) c.389A>T (p.Glu130Val) c.230A>T (p.Glu77Val) c.122A>T (p.Glu41Val) c.140A>T (p.Glu47Val) | |
2 | g.127421359G>A | CA428617414 | PROC | c.147G>A (p.Glu49=) c.112G>A (p.Ala38Thr) n.230G>A c.330G>A (p.Glu110=) c.210G>A (p.Glu70=) c.390G>A (p.Glu130=) c.231G>A (p.Glu77=) c.123G>A (p.Glu41=) c.141G>A (p.Glu47=) | |
2 | g.127421359G>C | CA348397843 | PROC | c.147G>C (p.Glu49Asp) c.112G>C (p.Ala38Pro) n.230G>C c.330G>C (p.Glu110Asp) c.210G>C (p.Glu70Asp) c.390G>C (p.Glu130Asp) c.231G>C (p.Glu77Asp) c.123G>C (p.Glu41Asp) c.141G>C (p.Glu47Asp) | |
2 | g.127421359G>T | CA348397844 | PROC | c.147G>T (p.Glu49Asp) c.112G>T (p.Ala38Ser) n.230G>T c.330G>T (p.Glu110Asp) c.210G>T (p.Glu70Asp) c.390G>T (p.Glu130Asp) c.231G>T (p.Glu77Asp) c.123G>T (p.Glu41Asp) c.141G>T (p.Glu47Asp) | |
2 | g.127421360C>A | CA348397849 | PROC | c.148C>A (p.Leu50Ile) c.113C>A (p.Ala38Asp) n.231C>A c.331C>A (p.Leu111Ile) c.211C>A (p.Leu71Ile) c.391C>A (p.Leu131Ile) c.232C>A (p.Leu78Ile) c.124C>A (p.Leu42Ile) c.142C>A (p.Leu48Ile) | |
2 | g.127421360C>G | CA348397846 | PROC | c.148C>G (p.Leu50Val) c.113C>G (p.Ala38Gly) n.231C>G c.331C>G (p.Leu111Val) c.211C>G (p.Leu71Val) c.391C>G (p.Leu131Val) c.232C>G (p.Leu78Val) c.124C>G (p.Leu42Val) c.142C>G (p.Leu48Val) | |
2 | g.127421360C>T | CA348397845 | PROC | c.148C>T (p.Leu50Phe) c.113C>T (p.Ala38Val) n.231C>T c.331C>T (p.Leu111Phe) c.211C>T (p.Leu71Phe) c.391C>T (p.Leu131Phe) c.232C>T (p.Leu78Phe) c.124C>T (p.Leu42Phe) c.142C>T (p.Leu48Phe) | |
2 | g.127421361_127421363del | CA2660995666 | PROC | c.149_151del (p.Leu50del) c.114_116del (p.Pro39del) n.232_234del c.332_334del (p.Leu111del) c.212_214del (p.Leu71del) c.392_394del (p.Leu131del) c.233_235del (p.Leu78del) c.125_127del (p.Leu42del) c.143_145del (p.Leu48del) | gnomAD v4 |
2 | g.127421361T>A | CA348397853 | PROC | c.149T>A (p.Leu50His) c.114T>A (p.Ala38=) n.232T>A c.332T>A (p.Leu111His) c.212T>A (p.Leu71His) c.392T>A (p.Leu131His) c.233T>A (p.Leu78His) c.125T>A (p.Leu42His) c.143T>A (p.Leu48His) | |
2 | g.127421361T>C | CA348397856 | PROC | c.149T>C (p.Leu50Pro) c.114T>C (p.Ala38=) n.232T>C c.332T>C (p.Leu111Pro) c.212T>C (p.Leu71Pro) c.392T>C (p.Leu131Pro) c.233T>C (p.Leu78Pro) c.125T>C (p.Leu42Pro) c.143T>C (p.Leu48Pro) | |
2 | g.127421361T>G | CA348397857 | PROC | c.149T>G (p.Leu50Arg) c.114T>G (p.Ala38=) n.232T>G c.332T>G (p.Leu111Arg) c.212T>G (p.Leu71Arg) c.392T>G (p.Leu131Arg) c.233T>G (p.Leu78Arg) c.125T>G (p.Leu42Arg) c.143T>G (p.Leu48Arg) | |
2 | g.127421362C>A | CA428617422 | PROC | c.150C>A (p.Leu50=) c.115C>A (p.Pro39Thr) n.233C>A c.333C>A (p.Leu111=) c.213C>A (p.Leu71=) c.393C>A (p.Leu131=) c.234C>A (p.Leu78=) c.126C>A (p.Leu42=) c.144C>A (p.Leu48=) | |
2 | g.127421362C= | CA1286880802 | PROC | c.150C= (p.Leu50=) c.115C= (p.Pro39=) n.233C= c.333C= (p.Leu111=) c.213C= (p.Leu71=) c.393C= (p.Leu131=) c.234C= (p.Leu78=) c.126C= (p.Leu42=) c.144C= (p.Leu48=) | |
2 | g.127421362C>G | CA428617423 | PROC | c.150C>G (p.Leu50=) c.115C>G (p.Pro39Ala) n.233C>G c.333C>G (p.Leu111=) c.213C>G (p.Leu71=) c.393C>G (p.Leu131=) c.234C>G (p.Leu78=) c.126C>G (p.Leu42=) c.144C>G (p.Leu48=) | |
2 | g.127421362C>T | CA428617424 | PROC | c.150C>T (p.Leu50=) c.115C>T (p.Pro39Ser) n.233C>T c.333C>T (p.Leu111=) c.213C>T (p.Leu71=) c.393C>T (p.Leu131=) c.234C>T (p.Leu78=) c.126C>T (p.Leu42=) c.144C>T (p.Leu48=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421363C>A | CA348397859 | PROC | c.151C>A (p.Arg51Ser) c.116C>A (p.Pro39Gln) n.234C>A c.334C>A (p.Arg112Ser) c.214C>A (p.Arg72Ser) c.394C>A (p.Arg132Ser) c.235C>A (p.Arg79Ser) c.127C>A (p.Arg43Ser) c.145C>A (p.Arg49Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421363C= | CA1286880821 | PROC | c.151C= (p.Arg51=) c.116C= (p.Pro39=) n.234C= c.334C= (p.Arg112=) c.214C= (p.Arg72=) c.394C= (p.Arg132=) c.235C= (p.Arg79=) c.127C= (p.Arg43=) c.145C= (p.Arg49=) | |
2 | g.127421363C>G | CA348397860 | PROC | c.151C>G (p.Arg51Gly) c.116C>G (p.Pro39Arg) n.234C>G c.334C>G (p.Arg112Gly) c.214C>G (p.Arg72Gly) c.394C>G (p.Arg132Gly) c.235C>G (p.Arg79Gly) c.127C>G (p.Arg43Gly) c.145C>G (p.Arg49Gly) | |
2 | g.127421363C>T | CA1859249 | PROC | c.151C>T (p.Arg51Cys) c.116C>T (p.Pro39Leu) n.234C>T c.334C>T (p.Arg112Cys) c.214C>T (p.Arg72Cys) c.394C>T (p.Arg132Cys) c.235C>T (p.Arg79Cys) c.127C>T (p.Arg43Cys) c.145C>T (p.Arg49Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421364G>A | CA348397861 | PROC | c.152G>A (p.Arg51His) c.117G>A (p.Pro39=) n.235G>A c.335G>A (p.Arg112His) c.215G>A (p.Arg72His) c.395G>A (p.Arg132His) c.236G>A (p.Arg79His) c.128G>A (p.Arg43His) c.146G>A (p.Arg49His) | dbSNP gnomAD v4 |
2 | g.127421364G>C | CA348397867 | PROC | c.152G>C (p.Arg51Pro) c.117G>C (p.Pro39=) n.235G>C c.335G>C (p.Arg112Pro) c.215G>C (p.Arg72Pro) c.395G>C (p.Arg132Pro) c.236G>C (p.Arg79Pro) c.128G>C (p.Arg43Pro) c.146G>C (p.Arg49Pro) | |
2 | g.127421364G= | CA1286880825 | PROC | c.152G= (p.Arg51=) c.117G= (p.Pro39=) n.235G= c.335G= (p.Arg112=) c.215G= (p.Arg72=) c.395G= (p.Arg132=) c.236G= (p.Arg79=) c.128G= (p.Arg43=) c.146G= (p.Arg49=) | |
2 | g.127421364G>T | CA348397865 | PROC | c.152G>T (p.Arg51Leu) c.117G>T (p.Pro39=) n.235G>T c.335G>T (p.Arg112Leu) c.215G>T (p.Arg72Leu) c.395G>T (p.Arg132Leu) c.236G>T (p.Arg79Leu) c.128G>T (p.Arg43Leu) c.146G>T (p.Arg49Leu) | |
2 | g.127421364_127421365delinsGT | CA1286880824 | PROC | c.152_153delinsGT (p.Arg51=) c.117_118delinsGT (p.Pro39=) n.235_236delinsGT c.335_336delinsGT (p.Arg112=) c.215_216delinsGT (p.Arg72=) c.395_396delinsGT (p.Arg132=) c.236_237delinsGT (p.Arg79=) c.128_129delinsGT (p.Arg43=) c.146_147delinsGT (p.Arg49=) | |
2 | g.127421365del | CA756625605 | PROC | c.153del (p.His52ThrfsTer9) c.118del (p.Ser40HisfsTer?) n.236del c.336del (p.His113ThrfsTer9) c.216del (p.His73ThrfsTer9) c.396del (p.His133ThrfsTer9) c.237del (p.His80ThrfsTer9) c.129del (p.His44ThrfsTer9) c.147del (p.His50ThrfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421365T>A | CA428617426 | PROC | c.153T>A (p.Arg51=) c.118T>A (p.Ser40Thr) n.236T>A c.336T>A (p.Arg112=) c.216T>A (p.Arg72=) c.396T>A (p.Arg132=) c.237T>A (p.Arg79=) c.129T>A (p.Arg43=) c.147T>A (p.Arg49=) | gnomAD v4 |
2 | g.127421365T>C | CA428617427 | PROC | c.153T>C (p.Arg51=) c.118T>C (p.Ser40Pro) n.236T>C c.336T>C (p.Arg112=) c.216T>C (p.Arg72=) c.396T>C (p.Arg132=) c.237T>C (p.Arg79=) c.129T>C (p.Arg43=) c.147T>C (p.Arg49=) | |
2 | g.127421365T>G | CA428617428 | PROC | c.153T>G (p.Arg51=) c.118T>G (p.Ser40Ala) n.236T>G c.336T>G (p.Arg112=) c.216T>G (p.Arg72=) c.396T>G (p.Arg132=) c.237T>G (p.Arg79=) c.129T>G (p.Arg43=) c.147T>G (p.Arg49=) | |
2 | g.127421365_127421366insG | CA2660995691 | PROC | c.153_154insG (p.His52AlafsTer14) c.118_119insG (p.Ser40CysfsTer10) n.236_237insG c.336_337insG (p.His113AlafsTer14) c.216_217insG (p.His73AlafsTer14) c.396_397insG (p.His133AlafsTer14) c.237_238insG (p.His80AlafsTer14) c.129_130insG (p.His44AlafsTer14) c.147_148insG (p.His50AlafsTer14) | gnomAD v4 |
2 | g.127421366C>A | CA348397869 | PROC | c.154C>A (p.His52Asn) c.119C>A (p.Ser40Ter) n.237C>A c.337C>A (p.His113Asn) c.217C>A (p.His73Asn) c.397C>A (p.His133Asn) c.238C>A (p.His80Asn) c.130C>A (p.His44Asn) c.148C>A (p.His50Asn) | |
2 | g.127421366C>G | CA348397871 | PROC | c.154C>G (p.His52Asp) c.119C>G (p.Ser40Ter) n.237C>G c.337C>G (p.His113Asp) c.217C>G (p.His73Asp) c.397C>G (p.His133Asp) c.238C>G (p.His80Asp) c.130C>G (p.His44Asp) c.148C>G (p.His50Asp) | |
2 | g.127421366C>T | CA348397872 | PROC | c.154C>T (p.His52Tyr) c.119C>T (p.Ser40Leu) n.237C>T c.337C>T (p.His113Tyr) c.217C>T (p.His73Tyr) c.397C>T (p.His133Tyr) c.238C>T (p.His80Tyr) c.130C>T (p.His44Tyr) c.148C>T (p.His50Tyr) | |
2 | g.127421367A>C | CA348397873 | PROC | c.155A>C (p.His52Pro) c.120A>C (p.Ser40=) n.238A>C c.338A>C (p.His113Pro) c.218A>C (p.His73Pro) c.398A>C (p.His133Pro) c.239A>C (p.His80Pro) c.131A>C (p.His44Pro) c.149A>C (p.His50Pro) | |
2 | g.127421367A>G | CA348397875 | PROC | c.155A>G (p.His52Arg) c.120A>G (p.Ser40=) n.238A>G c.338A>G (p.His113Arg) c.218A>G (p.His73Arg) c.398A>G (p.His133Arg) c.239A>G (p.His80Arg) c.131A>G (p.His44Arg) c.149A>G (p.His50Arg) | |
2 | g.127421367A>T | CA348397878 | PROC | c.155A>T (p.His52Leu) c.120A>T (p.Ser40=) n.238A>T c.338A>T (p.His113Leu) c.218A>T (p.His73Leu) c.398A>T (p.His133Leu) c.239A>T (p.His80Leu) c.131A>T (p.His44Leu) c.149A>T (p.His50Leu) | |
2 | g.127421368C>A | CA348397881 | PROC | c.156C>A (p.His52Gln) c.121C>A (p.Gln41Lys) n.239C>A c.339C>A (p.His113Gln) c.219C>A (p.His73Gln) c.399C>A (p.His133Gln) c.240C>A (p.His80Gln) c.132C>A (p.His44Gln) c.150C>A (p.His50Gln) | |
2 | g.127421368C= | CA1286880836 | PROC | c.156C= (p.His52=) c.121C= (p.Gln41=) n.239C= c.339C= (p.His113=) c.219C= (p.His73=) c.399C= (p.His133=) c.240C= (p.His80=) c.132C= (p.His44=) c.150C= (p.His50=) | |
2 | g.127421368C>G | CA348397883 | PROC | c.156C>G (p.His52Gln) c.121C>G (p.Gln41Glu) n.239C>G c.339C>G (p.His113Gln) c.219C>G (p.His73Gln) c.399C>G (p.His133Gln) c.240C>G (p.His80Gln) c.132C>G (p.His44Gln) c.150C>G (p.His50Gln) | ClinVar dbSNP |
2 | g.127421368C>T | CA428617429 | PROC | c.156C>T (p.His52=) c.121C>T (p.Gln41Ter) n.239C>T c.339C>T (p.His113=) c.219C>T (p.His73=) c.399C>T (p.His133=) c.240C>T (p.His80=) c.132C>T (p.His44=) c.150C>T (p.His50=) | gnomAD v4 |
2 | g.127421369A>C | CA348397886 | PROC | c.157A>C (p.Ser53Arg) c.122A>C (p.Gln41Pro) n.240A>C c.340A>C (p.Ser114Arg) c.220A>C (p.Ser74Arg) c.400A>C (p.Ser134Arg) c.241A>C (p.Ser81Arg) c.133A>C (p.Ser45Arg) c.151A>C (p.Ser51Arg) | |
2 | g.127421369A>G | CA348397888 | PROC | c.157A>G (p.Ser53Gly) c.122A>G (p.Gln41Arg) n.240A>G c.340A>G (p.Ser114Gly) c.220A>G (p.Ser74Gly) c.400A>G (p.Ser134Gly) c.241A>G (p.Ser81Gly) c.133A>G (p.Ser45Gly) c.151A>G (p.Ser51Gly) | gnomAD v4 |
2 | g.127421369A>T | CA348397889 | PROC | c.157A>T (p.Ser53Cys) c.122A>T (p.Gln41Leu) n.240A>T c.340A>T (p.Ser114Cys) c.220A>T (p.Ser74Cys) c.400A>T (p.Ser134Cys) c.241A>T (p.Ser81Cys) c.133A>T (p.Ser45Cys) c.151A>T (p.Ser51Cys) | |
2 | g.127421370G>A | CA348397891 | PROC | c.158G>A (p.Ser53Asn) c.123G>A (p.Gln41=) n.241G>A c.341G>A (p.Ser114Asn) c.221G>A (p.Ser74Asn) c.401G>A (p.Ser134Asn) c.242G>A (p.Ser81Asn) c.134G>A (p.Ser45Asn) c.152G>A (p.Ser51Asn) | |
2 | g.127421370G>C | CA348397895 | PROC | c.158G>C (p.Ser53Thr) c.123G>C (p.Gln41His) n.241G>C c.341G>C (p.Ser114Thr) c.221G>C (p.Ser74Thr) c.401G>C (p.Ser134Thr) c.242G>C (p.Ser81Thr) c.134G>C (p.Ser45Thr) c.152G>C (p.Ser51Thr) | |
2 | g.127421370G>T | CA348397893 | PROC | c.158G>T (p.Ser53Ile) c.123G>T (p.Gln41His) n.241G>T c.341G>T (p.Ser114Ile) c.221G>T (p.Ser74Ile) c.401G>T (p.Ser134Ile) c.242G>T (p.Ser81Ile) c.134G>T (p.Ser45Ile) c.152G>T (p.Ser51Ile) | |
2 | g.127421371del | CA2660995701 | PROC | c.159del (p.Ser53ArgfsTer8) c.124del (p.Gln42SerfsTer?) n.242del c.342del (p.Ser114ArgfsTer8) c.222del (p.Ser74ArgfsTer8) c.402del (p.Ser134ArgfsTer8) c.243del (p.Ser81ArgfsTer8) c.135del (p.Ser45ArgfsTer8) c.153del (p.Ser51ArgfsTer8) | gnomAD v4 |
2 | g.127421371C>A | CA348397898 | PROC | c.159C>A (p.Ser53Arg) c.124C>A (p.Gln42Lys) n.242C>A c.342C>A (p.Ser114Arg) c.222C>A (p.Ser74Arg) c.402C>A (p.Ser134Arg) c.243C>A (p.Ser81Arg) c.135C>A (p.Ser45Arg) c.153C>A (p.Ser51Arg) | |
2 | g.127421371C>G | CA348397900 | PROC | c.159C>G (p.Ser53Arg) c.124C>G (p.Gln42Glu) n.242C>G c.342C>G (p.Ser114Arg) c.222C>G (p.Ser74Arg) c.402C>G (p.Ser134Arg) c.243C>G (p.Ser81Arg) c.135C>G (p.Ser45Arg) c.153C>G (p.Ser51Arg) | |
2 | g.127421371C>T | CA428617430 | PROC | c.159C>T (p.Ser53=) c.124C>T (p.Gln42Ter) n.242C>T c.342C>T (p.Ser114=) c.222C>T (p.Ser74=) c.402C>T (p.Ser134=) c.243C>T (p.Ser81=) c.135C>T (p.Ser45=) c.153C>T (p.Ser51=) | |
2 | g.127421372A= | CA1286880843 | PROC | c.160A= (p.Ser54=) c.125A= (p.Gln42=) n.243A= c.343A= (p.Ser115=) c.223A= (p.Ser75=) c.403A= (p.Ser135=) c.244A= (p.Ser82=) c.136A= (p.Ser46=) c.154A= (p.Ser52=) | |
2 | g.127421372A>C | CA348397903 | PROC | c.160A>C (p.Ser54Arg) c.125A>C (p.Gln42Pro) n.243A>C c.343A>C (p.Ser115Arg) c.223A>C (p.Ser75Arg) c.403A>C (p.Ser135Arg) c.244A>C (p.Ser82Arg) c.136A>C (p.Ser46Arg) c.154A>C (p.Ser52Arg) | |
2 | g.127421372A>G | CA348397907 | PROC | c.160A>G (p.Ser54Gly) c.125A>G (p.Gln42Arg) n.243A>G c.343A>G (p.Ser115Gly) c.223A>G (p.Ser75Gly) c.403A>G (p.Ser135Gly) c.244A>G (p.Ser82Gly) c.136A>G (p.Ser46Gly) c.154A>G (p.Ser52Gly) | |
2 | g.127421372A>T | CA211721 | PROC | c.160A>T (p.Ser54Cys) c.125A>T (p.Gln42Leu) n.243A>T c.343A>T (p.Ser115Cys) c.223A>T (p.Ser75Cys) c.403A>T (p.Ser135Cys) c.244A>T (p.Ser82Cys) c.136A>T (p.Ser46Cys) c.154A>T (p.Ser52Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421373G>A | CA348397911 | PROC | c.161G>A (p.Ser54Asn) c.126G>A (p.Gln42=) n.244G>A c.344G>A (p.Ser115Asn) c.224G>A (p.Ser75Asn) c.404G>A (p.Ser135Asn) c.245G>A (p.Ser82Asn) c.137G>A (p.Ser46Asn) c.155G>A (p.Ser52Asn) | gnomAD v4 |
2 | g.127421373G>C | CA348397913 | PROC | c.161G>C (p.Ser54Thr) c.126G>C (p.Gln42His) n.244G>C c.344G>C (p.Ser115Thr) c.224G>C (p.Ser75Thr) c.404G>C (p.Ser135Thr) c.245G>C (p.Ser82Thr) c.137G>C (p.Ser46Thr) c.155G>C (p.Ser52Thr) | |
2 | g.127421373G>T | CA348397915 | PROC | c.161G>T (p.Ser54Ile) c.126G>T (p.Gln42His) n.244G>T c.344G>T (p.Ser115Ile) c.224G>T (p.Ser75Ile) c.404G>T (p.Ser135Ile) c.245G>T (p.Ser82Ile) c.137G>T (p.Ser46Ile) c.155G>T (p.Ser52Ile) | COSMIC COSMIC |
2 | g.127421373_127421374insAGTG | CA2660995714 | PROC | c.161_162insAGTG (p.Ser54ArgfsTer13) c.126_127insAGTG (p.Pro43SerfsTer8) n.244_245insAGTG c.344_345insAGTG (p.Ser115ArgfsTer13) c.224_225insAGTG (p.Ser75ArgfsTer13) c.404_405insAGTG (p.Ser135ArgfsTer13) c.245_246insAGTG (p.Ser82ArgfsTer13) c.137_138insAGTG (p.Ser46ArgfsTer13) c.155_156insAGTG (p.Ser52ArgfsTer13) | gnomAD v4 |
2 | g.127421374C>A | CA348397918 | PROC | c.162C>A (p.Ser54Arg) c.127C>A (p.Pro43Thr) n.245C>A c.345C>A (p.Ser115Arg) c.225C>A (p.Ser75Arg) c.405C>A (p.Ser135Arg) c.246C>A (p.Ser82Arg) c.138C>A (p.Ser46Arg) c.156C>A (p.Ser52Arg) | |
2 | g.127421374C= | CA1286880853 | PROC | c.162C= (p.Ser54=) c.127C= (p.Pro43=) n.245C= c.345C= (p.Ser115=) c.225C= (p.Ser75=) c.405C= (p.Ser135=) c.246C= (p.Ser82=) c.138C= (p.Ser46=) c.156C= (p.Ser52=) | |
2 | g.127421374C>G | CA348397920 | PROC | c.162C>G (p.Ser54Arg) c.127C>G (p.Pro43Ala) n.245C>G c.345C>G (p.Ser115Arg) c.225C>G (p.Ser75Arg) c.405C>G (p.Ser135Arg) c.246C>G (p.Ser82Arg) c.138C>G (p.Ser46Arg) c.156C>G (p.Ser52Arg) | |
2 | g.127421374C>T | CA428617431 | PROC | c.162C>T (p.Ser54=) c.127C>T (p.Pro43Ser) n.245C>T c.345C>T (p.Ser115=) c.225C>T (p.Ser75=) c.405C>T (p.Ser135=) c.246C>T (p.Ser82=) c.138C>T (p.Ser46=) c.156C>T (p.Ser52=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127421375C>A | CA348397927 | PROC | c.163C>A (p.Leu55Met) c.128C>A (p.Pro43His) n.246C>A c.346C>A (p.Leu116Met) c.226C>A (p.Leu76Met) c.406C>A (p.Leu136Met) c.247C>A (p.Leu83Met) c.139C>A (p.Leu47Met) c.157C>A (p.Leu53Met) | gnomAD v4 |
2 | g.127421375C>G | CA348397929 | PROC | c.163C>G (p.Leu55Val) c.128C>G (p.Pro43Arg) n.246C>G c.346C>G (p.Leu116Val) c.226C>G (p.Leu76Val) c.406C>G (p.Leu136Val) c.247C>G (p.Leu83Val) c.139C>G (p.Leu47Val) c.157C>G (p.Leu53Val) | |
2 | g.127421375C>T | CA428617432 | PROC | c.163C>T (p.Leu55=) c.128C>T (p.Pro43Leu) n.246C>T c.346C>T (p.Leu116=) c.226C>T (p.Leu76=) c.406C>T (p.Leu136=) c.247C>T (p.Leu83=) c.139C>T (p.Leu47=) c.157C>T (p.Leu53=) | |
2 | g.127421376del | CA2586969844 | PROC | c.164del (p.Leu55ArgfsTer6) c.129del (p.Gly44GlufsTer?) n.247del c.347del (p.Leu116ArgfsTer6) c.227del (p.Leu76ArgfsTer6) c.407del (p.Leu136ArgfsTer6) c.248del (p.Leu83ArgfsTer6) c.140del (p.Leu47ArgfsTer6) c.158del (p.Leu53ArgfsTer6) | |
2 | g.127421376T>A | CA348397932 | PROC | c.164T>A (p.Leu55Gln) c.129T>A (p.Pro43=) n.247T>A c.347T>A (p.Leu116Gln) c.227T>A (p.Leu76Gln) c.407T>A (p.Leu136Gln) c.248T>A (p.Leu83Gln) c.140T>A (p.Leu47Gln) c.158T>A (p.Leu53Gln) | |
2 | g.127421376T>C | CA348397935 | PROC | c.164T>C (p.Leu55Pro) c.129T>C (p.Pro43=) n.247T>C c.347T>C (p.Leu116Pro) c.227T>C (p.Leu76Pro) c.407T>C (p.Leu136Pro) c.248T>C (p.Leu83Pro) c.140T>C (p.Leu47Pro) c.158T>C (p.Leu53Pro) | ClinVar |
2 | g.127421376T>G | CA348397936 | PROC | c.164T>G (p.Leu55Arg) c.129T>G (p.Pro43=) n.247T>G c.347T>G (p.Leu116Arg) c.227T>G (p.Leu76Arg) c.407T>G (p.Leu136Arg) c.248T>G (p.Leu83Arg) c.140T>G (p.Leu47Arg) c.158T>G (p.Leu53Arg) | |
2 | g.127421377G>A | CA428617433 | PROC | c.165G>A (p.Leu55=) c.130G>A (p.Gly44Arg) n.248G>A c.348G>A (p.Leu116=) c.228G>A (p.Leu76=) c.408G>A (p.Leu136=) c.249G>A (p.Leu83=) c.141G>A (p.Leu47=) c.159G>A (p.Leu53=) | gnomAD v4 |
2 | g.127421377G>C | CA428617434 | PROC | c.165G>C (p.Leu55=) c.130G>C (p.Gly44Arg) n.248G>C c.348G>C (p.Leu116=) c.228G>C (p.Leu76=) c.408G>C (p.Leu136=) c.249G>C (p.Leu83=) c.141G>C (p.Leu47=) c.159G>C (p.Leu53=) | |
2 | g.127421377G>T | CA428617435 | PROC | c.165G>T (p.Leu55=) c.130G>T (p.Gly44Ter) n.248G>T c.348G>T (p.Leu116=) c.228G>T (p.Leu76=) c.408G>T (p.Leu136=) c.249G>T (p.Leu83=) c.141G>T (p.Leu47=) c.159G>T (p.Leu53=) | |
2 | g.127421377_127421378del | CA2660995723 | PROC | c.165_166del (p.Glu56AlafsTer9) c.130_131del (p.Gly44SerfsTer5) n.248_249del c.348_349del (p.Glu117AlafsTer9) c.228_229del (p.Glu77AlafsTer9) c.408_409del (p.Glu137AlafsTer9) c.249_250del (p.Glu84AlafsTer9) c.141_142del (p.Glu48AlafsTer9) c.159_160del (p.Glu54AlafsTer9) | gnomAD v4 |
2 | g.127421378G>A | CA348397944 | PROC | c.166G>A (p.Glu56Lys) c.131G>A (p.Gly44Glu) n.249G>A c.349G>A (p.Glu117Lys) c.229G>A (p.Glu77Lys) c.409G>A (p.Glu137Lys) c.250G>A (p.Glu84Lys) c.142G>A (p.Glu48Lys) c.160G>A (p.Glu54Lys) | dbSNP |
2 | g.127421378G>C | CA348397940 | PROC | c.166G>C (p.Glu56Gln) c.131G>C (p.Gly44Ala) n.249G>C c.349G>C (p.Glu117Gln) c.229G>C (p.Glu77Gln) c.409G>C (p.Glu137Gln) c.250G>C (p.Glu84Gln) c.142G>C (p.Glu48Gln) c.160G>C (p.Glu54Gln) | gnomAD v4 COSMIC |
2 | g.127421378G= | CA1286880856 | PROC | c.166G= (p.Glu56=) c.131G= (p.Gly44=) n.249G= c.349G= (p.Glu117=) c.229G= (p.Glu77=) c.409G= (p.Glu137=) c.250G= (p.Glu84=) c.142G= (p.Glu48=) c.160G= (p.Glu54=) | |
2 | g.127421378G>T | CA348397942 | PROC | c.166G>T (p.Glu56Ter) c.131G>T (p.Gly44Val) n.249G>T c.349G>T (p.Glu117Ter) c.229G>T (p.Glu77Ter) c.409G>T (p.Glu137Ter) c.250G>T (p.Glu84Ter) c.142G>T (p.Glu48Ter) c.160G>T (p.Glu54Ter) | |
2 | g.127421379A>C | CA348397947 | PROC | c.167A>C (p.Glu56Ala) c.132A>C (p.Gly44=) n.250A>C c.350A>C (p.Glu117Ala) c.230A>C (p.Glu77Ala) c.410A>C (p.Glu137Ala) c.251A>C (p.Glu84Ala) c.143A>C (p.Glu48Ala) c.161A>C (p.Glu54Ala) | |
2 | g.127421379A>G | CA348397952 | PROC | c.167A>G (p.Glu56Gly) c.132A>G (p.Gly44=) n.250A>G c.350A>G (p.Glu117Gly) c.230A>G (p.Glu77Gly) c.410A>G (p.Glu137Gly) c.251A>G (p.Glu84Gly) c.143A>G (p.Glu48Gly) c.161A>G (p.Glu54Gly) | |
2 | g.127421379A>T | CA348397953 | PROC | c.167A>T (p.Glu56Val) c.132A>T (p.Gly44=) n.250A>T c.350A>T (p.Glu117Val) c.230A>T (p.Glu77Val) c.410A>T (p.Glu137Val) c.251A>T (p.Glu84Val) c.143A>T (p.Glu48Val) c.161A>T (p.Glu54Val) | |
2 | g.127421380G>A | CA428617436 | PROC | c.168G>A (p.Glu56=) c.133G>A (p.Ala45Thr) n.251G>A c.351G>A (p.Glu117=) c.231G>A (p.Glu77=) c.411G>A (p.Glu137=) c.252G>A (p.Glu84=) c.144G>A (p.Glu48=) c.162G>A (p.Glu54=) | dbSNP gnomAD v4 |
2 | g.127421380G>C | CA348397955 | PROC | c.168G>C (p.Glu56Asp) c.133G>C (p.Ala45Pro) n.251G>C c.351G>C (p.Glu117Asp) c.231G>C (p.Glu77Asp) c.411G>C (p.Glu137Asp) c.252G>C (p.Glu84Asp) c.144G>C (p.Glu48Asp) c.162G>C (p.Glu54Asp) | |
2 | g.127421380G= | CA1286880859 | PROC | c.168G= (p.Glu56=) c.133G= (p.Ala45=) n.251G= c.351G= (p.Glu117=) c.231G= (p.Glu77=) c.411G= (p.Glu137=) c.252G= (p.Glu84=) c.144G= (p.Glu48=) c.162G= (p.Glu54=) | |
2 | g.127421380G>T | CA348397958 | PROC | c.168G>T (p.Glu56Asp) c.133G>T (p.Ala45Ser) n.251G>T c.351G>T (p.Glu117Asp) c.231G>T (p.Glu77Asp) c.411G>T (p.Glu137Asp) c.252G>T (p.Glu84Asp) c.144G>T (p.Glu48Asp) c.162G>T (p.Glu54Asp) | |
2 | g.127421381C>A | CA428617437 | PROC | c.169C>A (p.Arg57=) c.134C>A (p.Ala45Glu) n.252C>A c.352C>A (p.Arg118=) c.232C>A (p.Arg78=) c.412C>A (p.Arg138=) c.253C>A (p.Arg85=) c.145C>A (p.Arg49=) c.163C>A (p.Arg55=) | gnomAD v4 |
2 | g.127421381C= | CA1286880865 | PROC | c.169C= (p.Arg57=) c.134C= (p.Ala45=) n.252C= c.352C= (p.Arg118=) c.232C= (p.Arg78=) c.412C= (p.Arg138=) c.253C= (p.Arg85=) c.145C= (p.Arg49=) c.163C= (p.Arg55=) | |
2 | g.127421381C>G | CA348397959 | PROC | c.169C>G (p.Arg57Gly) c.134C>G (p.Ala45Gly) n.252C>G c.352C>G (p.Arg118Gly) c.232C>G (p.Arg78Gly) c.412C>G (p.Arg138Gly) c.253C>G (p.Arg85Gly) c.145C>G (p.Arg49Gly) c.163C>G (p.Arg55Gly) | |
2 | g.127421381C>T | CA334388 | PROC | c.169C>T (p.Arg57Trp) c.134C>T (p.Ala45Val) n.252C>T c.352C>T (p.Arg118Trp) c.232C>T (p.Arg78Trp) c.412C>T (p.Arg138Trp) c.253C>T (p.Arg85Trp) c.145C>T (p.Arg49Trp) c.163C>T (p.Arg55Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421382G>A | CA1859250 | PROC | c.170G>A (p.Arg57Gln) c.135G>A (p.Ala45=) n.253G>A c.353G>A (p.Arg118Gln) c.233G>A (p.Arg78Gln) c.413G>A (p.Arg138Gln) c.254G>A (p.Arg85Gln) c.146G>A (p.Arg49Gln) c.164G>A (p.Arg55Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421382G>C | CA348397964 | PROC | c.170G>C (p.Arg57Pro) c.135G>C (p.Ala45=) n.253G>C c.353G>C (p.Arg118Pro) c.233G>C (p.Arg78Pro) c.413G>C (p.Arg138Pro) c.254G>C (p.Arg85Pro) c.146G>C (p.Arg49Pro) c.164G>C (p.Arg55Pro) | gnomAD v4 |
2 | g.127421382G= | CA1286880872 | PROC | c.170G= (p.Arg57=) c.135G= (p.Ala45=) n.253G= c.353G= (p.Arg118=) c.233G= (p.Arg78=) c.413G= (p.Arg138=) c.254G= (p.Arg85=) c.146G= (p.Arg49=) c.164G= (p.Arg55=) | |
2 | g.127421382G>T | CA55343006 | PROC | c.170G>T (p.Arg57Leu) c.135G>T (p.Ala45=) n.253G>T c.353G>T (p.Arg118Leu) c.233G>T (p.Arg78Leu) c.413G>T (p.Arg138Leu) c.254G>T (p.Arg85Leu) c.146G>T (p.Arg49Leu) c.164G>T (p.Arg55Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421383G>A | CA428617438 | PROC | c.171G>A (p.Arg57=) c.136G>A (p.Gly46Arg) n.254G>A c.354G>A (p.Arg118=) c.234G>A (p.Arg78=) c.414G>A (p.Arg138=) c.255G>A (p.Arg85=) c.147G>A (p.Arg49=) c.165G>A (p.Arg55=) | gnomAD v4 |
2 | g.127421383G>C | CA428617439 | PROC | c.171G>C (p.Arg57=) c.136G>C (p.Gly46Arg) n.254G>C c.354G>C (p.Arg118=) c.234G>C (p.Arg78=) c.414G>C (p.Arg138=) c.255G>C (p.Arg85=) c.147G>C (p.Arg49=) c.165G>C (p.Arg55=) | |
2 | g.127421383G>T | CA428617440 | PROC | c.171G>T (p.Arg57=) c.136G>T (p.Gly46Ter) n.254G>T c.354G>T (p.Arg118=) c.234G>T (p.Arg78=) c.414G>T (p.Arg138=) c.255G>T (p.Arg85=) c.147G>T (p.Arg49=) c.165G>T (p.Arg55=) | |
2 | g.127421384G>A | CA348397973 | PROC | c.172G>A (p.Glu58Lys) c.137G>A (p.Gly46Glu) n.255G>A c.355G>A (p.Glu119Lys) c.235G>A (p.Glu79Lys) c.415G>A (p.Glu139Lys) c.256G>A (p.Glu86Lys) c.148G>A (p.Glu50Lys) c.166G>A (p.Glu56Lys) | |
2 | g.127421384G>C | CA348397975 | PROC | c.172G>C (p.Glu58Gln) c.137G>C (p.Gly46Ala) n.255G>C c.355G>C (p.Glu119Gln) c.235G>C (p.Glu79Gln) c.415G>C (p.Glu139Gln) c.256G>C (p.Glu86Gln) c.148G>C (p.Glu50Gln) c.166G>C (p.Glu56Gln) | |
2 | g.127421384G>T | CA348397970 | PROC | c.172G>T (p.Glu58Ter) c.137G>T (p.Gly46Val) n.255G>T c.355G>T (p.Glu119Ter) c.235G>T (p.Glu79Ter) c.415G>T (p.Glu139Ter) c.256G>T (p.Glu86Ter) c.148G>T (p.Glu50Ter) c.166G>T (p.Glu56Ter) | |
2 | g.127421385A>C | CA348397982 | PROC | c.173A>C (p.Glu58Ala) c.138A>C (p.Gly46=) n.256A>C c.356A>C (p.Glu119Ala) c.236A>C (p.Glu79Ala) c.416A>C (p.Glu139Ala) c.257A>C (p.Glu86Ala) c.149A>C (p.Glu50Ala) c.167A>C (p.Glu56Ala) | |
2 | g.127421385A>G | CA348397984 | PROC | c.173A>G (p.Glu58Gly) c.138A>G (p.Gly46=) n.256A>G c.356A>G (p.Glu119Gly) c.236A>G (p.Glu79Gly) c.416A>G (p.Glu139Gly) c.257A>G (p.Glu86Gly) c.149A>G (p.Glu50Gly) c.167A>G (p.Glu56Gly) | |
2 | g.127421385A>T | CA348397987 | PROC | c.173A>T (p.Glu58Val) c.138A>T (p.Gly46=) n.256A>T c.356A>T (p.Glu119Val) c.236A>T (p.Glu79Val) c.416A>T (p.Glu139Val) c.257A>T (p.Glu86Val) c.149A>T (p.Glu50Val) c.167A>T (p.Glu56Val) | |
2 | g.127421386G>A | CA428617441 | PROC | c.174G>A (p.Glu58=) c.139G>A (p.Val47Met) n.257G>A c.357G>A (p.Glu119=) c.237G>A (p.Glu79=) c.417G>A (p.Glu139=) c.258G>A (p.Glu86=) c.150G>A (p.Glu50=) c.168G>A (p.Glu56=) | |
2 | g.127421386G>C | CA348397989 | PROC | c.174G>C (p.Glu58Asp) c.139G>C (p.Val47Leu) n.257G>C c.357G>C (p.Glu119Asp) c.237G>C (p.Glu79Asp) c.417G>C (p.Glu139Asp) c.258G>C (p.Glu86Asp) c.150G>C (p.Glu50Asp) c.168G>C (p.Glu56Asp) | |
2 | g.127421386G>T | CA348397992 | PROC | c.174G>T (p.Glu58Asp) c.139G>T (p.Val47Leu) n.257G>T c.357G>T (p.Glu119Asp) c.237G>T (p.Glu79Asp) c.417G>T (p.Glu139Asp) c.258G>T (p.Glu86Asp) c.150G>T (p.Glu50Asp) c.168G>T (p.Glu56Asp) | |
2 | g.127421387T>A | CA348398003 | PROC | c.175T>A (p.Cys59Ser) c.140T>A (p.Val47Glu) n.258T>A c.358T>A (p.Cys120Ser) c.238T>A (p.Cys80Ser) c.418T>A (p.Cys140Ser) c.259T>A (p.Cys87Ser) c.151T>A (p.Cys51Ser) c.169T>A (p.Cys57Ser) | |
2 | g.127421387T>C | CA348397996 | PROC | c.175T>C (p.Cys59Arg) c.140T>C (p.Val47Ala) n.258T>C c.358T>C (p.Cys120Arg) c.238T>C (p.Cys80Arg) c.418T>C (p.Cys140Arg) c.259T>C (p.Cys87Arg) c.151T>C (p.Cys51Arg) c.169T>C (p.Cys57Arg) | |
2 | g.127421387T>G | CA348397998 | PROC | c.175T>G (p.Cys59Gly) c.140T>G (p.Val47Gly) n.258T>G c.358T>G (p.Cys120Gly) c.238T>G (p.Cys80Gly) c.418T>G (p.Cys140Gly) c.259T>G (p.Cys87Gly) c.151T>G (p.Cys51Gly) c.169T>G (p.Cys57Gly) | |
2 | g.127421388G>A | CA348398006 | PROC | c.176G>A (p.Cys59Tyr) c.141G>A (p.Val47=) n.259G>A c.359G>A (p.Cys120Tyr) c.239G>A (p.Cys80Tyr) c.419G>A (p.Cys140Tyr) c.260G>A (p.Cys87Tyr) c.152G>A (p.Cys51Tyr) c.170G>A (p.Cys57Tyr) | gnomAD v4 |
2 | g.127421388G>C | CA348398008 | PROC | c.176G>C (p.Cys59Ser) c.141G>C (p.Val47=) n.259G>C c.359G>C (p.Cys120Ser) c.239G>C (p.Cys80Ser) c.419G>C (p.Cys140Ser) c.260G>C (p.Cys87Ser) c.152G>C (p.Cys51Ser) c.170G>C (p.Cys57Ser) | |
2 | g.127421388G>T | CA348398010 | PROC | c.176G>T (p.Cys59Phe) c.141G>T (p.Val47=) n.259G>T c.359G>T (p.Cys120Phe) c.239G>T (p.Cys80Phe) c.419G>T (p.Cys140Phe) c.260G>T (p.Cys87Phe) c.152G>T (p.Cys51Phe) c.170G>T (p.Cys57Phe) | |
2 | g.127421389C>A | CA348398013 | PROC | c.177C>A (p.Cys59Ter) c.142C>A (p.His48Asn) n.260C>A c.360C>A (p.Cys120Ter) c.240C>A (p.Cys80Ter) c.420C>A (p.Cys140Ter) c.261C>A (p.Cys87Ter) c.153C>A (p.Cys51Ter) c.171C>A (p.Cys57Ter) | |
2 | g.127421389C= | CA1286880874 | PROC | c.177C= (p.Cys59=) c.142C= (p.His48=) n.260C= c.360C= (p.Cys120=) c.240C= (p.Cys80=) c.420C= (p.Cys140=) c.261C= (p.Cys87=) c.153C= (p.Cys51=) c.171C= (p.Cys57=) | |
2 | g.127421389C>G | CA348398016 | PROC | c.177C>G (p.Cys59Trp) c.142C>G (p.His48Asp) n.260C>G c.360C>G (p.Cys120Trp) c.240C>G (p.Cys80Trp) c.420C>G (p.Cys140Trp) c.261C>G (p.Cys87Trp) c.153C>G (p.Cys51Trp) c.171C>G (p.Cys57Trp) | |
2 | g.127421389C>T | CA428617442 | PROC | c.177C>T (p.Cys59=) c.142C>T (p.His48Tyr) n.260C>T c.360C>T (p.Cys120=) c.240C>T (p.Cys80=) c.420C>T (p.Cys140=) c.261C>T (p.Cys87=) c.153C>T (p.Cys51=) c.171C>T (p.Cys57=) | dbSNP |
2 | g.127421390A= | CA1286880876 | PROC | c.178A= (p.Ile60=) c.143A= (p.His48=) n.261A= c.361A= (p.Ile121=) c.241A= (p.Ile81=) c.421A= (p.Ile141=) c.262A= (p.Ile88=) c.154A= (p.Ile52=) c.172A= (p.Ile58=) | |
2 | g.127421390A>C | CA348398019 | PROC | c.178A>C (p.Ile60Leu) c.143A>C (p.His48Pro) n.261A>C c.361A>C (p.Ile121Leu) c.241A>C (p.Ile81Leu) c.421A>C (p.Ile141Leu) c.262A>C (p.Ile88Leu) c.154A>C (p.Ile52Leu) c.172A>C (p.Ile58Leu) | |
2 | g.127421390A>G | CA348398024 | PROC | c.178A>G (p.Ile60Val) c.143A>G (p.His48Arg) n.261A>G c.361A>G (p.Ile121Val) c.241A>G (p.Ile81Val) c.421A>G (p.Ile141Val) c.262A>G (p.Ile88Val) c.154A>G (p.Ile52Val) c.172A>G (p.Ile58Val) | dbSNP gnomAD v2 |
2 | g.127421390A>T | CA348398022 | PROC | c.178A>T (p.Ile60Leu) c.143A>T (p.His48Leu) n.261A>T c.361A>T (p.Ile121Leu) c.241A>T (p.Ile81Leu) c.421A>T (p.Ile141Leu) c.262A>T (p.Ile88Leu) c.154A>T (p.Ile52Leu) c.172A>T (p.Ile58Leu) | |
2 | g.127421391T>A | CA348398027 | PROC | c.179T>A (p.Ile60Lys) c.144T>A (p.His48Gln) n.262T>A c.362T>A (p.Ile121Lys) c.242T>A (p.Ile81Lys) c.422T>A (p.Ile141Lys) c.263T>A (p.Ile88Lys) c.155T>A (p.Ile52Lys) c.173T>A (p.Ile58Lys) | |
2 | g.127421391T>C | CA1859251 | PROC | c.179T>C (p.Ile60Thr) c.144T>C (p.His48=) n.262T>C c.362T>C (p.Ile121Thr) c.242T>C (p.Ile81Thr) c.422T>C (p.Ile141Thr) c.263T>C (p.Ile88Thr) c.155T>C (p.Ile52Thr) c.173T>C (p.Ile58Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127421391T>G | CA348398030 | PROC | c.179T>G (p.Ile60Arg) c.144T>G (p.His48Gln) n.262T>G c.362T>G (p.Ile121Arg) c.242T>G (p.Ile81Arg) c.422T>G (p.Ile141Arg) c.263T>G (p.Ile88Arg) c.155T>G (p.Ile52Arg) c.173T>G (p.Ile58Arg) | |
2 | g.127421391T= | CA1286880879 | PROC | c.179T= (p.Ile60=) c.144T= (p.His48=) n.262T= c.362T= (p.Ile121=) c.242T= (p.Ile81=) c.422T= (p.Ile141=) c.263T= (p.Ile88=) c.155T= (p.Ile52=) c.173T= (p.Ile58=) | |
2 | g.127421392A>C | CA428617444 | PROC | c.180A>C (p.Ile60=) c.145A>C (p.Arg49=) n.263A>C c.363A>C (p.Ile121=) c.243A>C (p.Ile81=) c.423A>C (p.Ile141=) c.264A>C (p.Ile88=) c.156A>C (p.Ile52=) c.174A>C (p.Ile58=) | |
2 | g.127421392A>G | CA348398032 | PROC | c.180A>G (p.Ile60Met) c.145A>G (p.Arg49Gly) n.263A>G c.363A>G (p.Ile121Met) c.243A>G (p.Ile81Met) c.423A>G (p.Ile141Met) c.264A>G (p.Ile88Met) c.156A>G (p.Ile52Met) c.174A>G (p.Ile58Met) | |
2 | g.127421392A>T | CA428617443 | PROC | c.180A>T (p.Ile60=) c.145A>T (p.Arg49Ter) n.263A>T c.363A>T (p.Ile121=) c.243A>T (p.Ile81=) c.423A>T (p.Ile141=) c.264A>T (p.Ile88=) c.156A>T (p.Ile52=) c.174A>T (p.Ile58=) | |
2 | g.127421392_127421395delinsAGAG | CA1286880881 | PROC | c.180_183delinsAGAG (p.Ile60=) c.145_148delinsAGAG (p.Arg49=) n.263_266delinsAGAG c.363_366delinsAGAG (p.Ile121=) c.243_246delinsAGAG (p.Ile81=) c.423_426delinsAGAG (p.Ile141=) c.264_267delinsAGAG (p.Ile88=) c.156_159delinsAGAG (p.Ile52=) c.174_177delinsAGAG (p.Ile58=) | |
2 | g.127421393del | CA2586969845 | PROC | c.181del (p.Glu61ArgfsTer?) c.146del (p.Arg49LysfsTer?) n.264del c.364del (p.Glu122ArgfsTer?) c.244del (p.Glu82ArgfsTer?) c.424del (p.Glu142ArgfsTer?) c.265del (p.Glu89ArgfsTer?) c.157del (p.Glu53ArgfsTer?) c.175del (p.Glu59ArgfsTer?) | |
2 | g.127421393G>A | CA348398035 | PROC | c.181G>A (p.Glu61Lys) c.146G>A (p.Arg49Lys) n.264G>A c.364G>A (p.Glu122Lys) c.244G>A (p.Glu82Lys) c.424G>A (p.Glu142Lys) c.265G>A (p.Glu89Lys) c.157G>A (p.Glu53Lys) c.175G>A (p.Glu59Lys) | gnomAD v4 |
2 | g.127421393G>C | CA348398036 | PROC | c.181G>C (p.Glu61Gln) c.146G>C (p.Arg49Thr) n.264G>C c.364G>C (p.Glu122Gln) c.244G>C (p.Glu82Gln) c.424G>C (p.Glu142Gln) c.265G>C (p.Glu89Gln) c.157G>C (p.Glu53Gln) c.175G>C (p.Glu59Gln) | |
2 | g.127421393G>T | CA348398037 | PROC | c.181G>T (p.Glu61Ter) c.146G>T (p.Arg49Ile) n.264G>T c.364G>T (p.Glu122Ter) c.244G>T (p.Glu82Ter) c.424G>T (p.Glu142Ter) c.265G>T (p.Glu89Ter) c.157G>T (p.Glu53Ter) c.175G>T (p.Glu59Ter) | |
2 | g.127421396_127421398del | CA535638970 | PROC | c.184_186del (p.Glu62del) c.149_151del (p.Gly50del) n.267_269del c.367_369del (p.Glu123del) c.247_249del (p.Glu83del) c.427_429del (p.Glu143del) c.268_270del (p.Glu90del) c.160_162del (p.Glu54del) c.178_180del (p.Glu60del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127421394A>C | CA348398038 | PROC | c.182A>C (p.Glu61Ala) c.147A>C (p.Arg49Ser) n.265A>C c.365A>C (p.Glu122Ala) c.245A>C (p.Glu82Ala) c.425A>C (p.Glu142Ala) c.266A>C (p.Glu89Ala) c.158A>C (p.Glu53Ala) c.176A>C (p.Glu59Ala) | |
2 | g.127421394A>G | CA348398039 | PROC | c.182A>G (p.Glu61Gly) c.147A>G (p.Arg49=) n.265A>G c.365A>G (p.Glu122Gly) c.245A>G (p.Glu82Gly) c.425A>G (p.Glu142Gly) c.266A>G (p.Glu89Gly) c.158A>G (p.Glu53Gly) c.176A>G (p.Glu59Gly) | |
2 | g.127421394A>T | CA348398040 | PROC | c.182A>T (p.Glu61Val) c.147A>T (p.Arg49Ser) n.265A>T c.365A>T (p.Glu122Val) c.245A>T (p.Glu82Val) c.425A>T (p.Glu142Val) c.266A>T (p.Glu89Val) c.158A>T (p.Glu53Val) c.176A>T (p.Glu59Val) | |
2 | g.127421395G>A | CA428617445 | PROC | c.183G>A (p.Glu61=) c.148G>A (p.Gly50Arg) n.266G>A c.366G>A (p.Glu122=) c.246G>A (p.Glu82=) c.426G>A (p.Glu142=) c.267G>A (p.Glu89=) c.159G>A (p.Glu53=) c.177G>A (p.Glu59=) | |
2 | g.127421395G>C | CA348398042 | PROC | c.183G>C (p.Glu61Asp) c.148G>C (p.Gly50Arg) n.266G>C c.366G>C (p.Glu122Asp) c.246G>C (p.Glu82Asp) c.426G>C (p.Glu142Asp) c.267G>C (p.Glu89Asp) c.159G>C (p.Glu53Asp) c.177G>C (p.Glu59Asp) | |
2 | g.127421395G>T | CA348398045 | PROC | c.183G>T (p.Glu61Asp) c.148G>T (p.Gly50Ter) n.266G>T c.366G>T (p.Glu122Asp) c.246G>T (p.Glu82Asp) c.426G>T (p.Glu142Asp) c.267G>T (p.Glu89Asp) c.159G>T (p.Glu53Asp) c.177G>T (p.Glu59Asp) | |
2 | g.127421396G>A | CA348398048 | PROC | c.184G>A (p.Glu62Lys) c.149G>A (p.Gly50Glu) n.267G>A c.367G>A (p.Glu123Lys) c.247G>A (p.Glu83Lys) c.427G>A (p.Glu143Lys) c.268G>A (p.Glu90Lys) c.160G>A (p.Glu54Lys) c.178G>A (p.Glu60Lys) | |
2 | g.127421396G>C | CA348398049 | PROC | c.184G>C (p.Glu62Gln) c.149G>C (p.Gly50Ala) n.267G>C c.367G>C (p.Glu123Gln) c.247G>C (p.Glu83Gln) c.427G>C (p.Glu143Gln) c.268G>C (p.Glu90Gln) c.160G>C (p.Glu54Gln) c.178G>C (p.Glu60Gln) | |
2 | g.127421396G>T | CA348398047 | PROC | c.184G>T (p.Glu62Ter) c.149G>T (p.Gly50Val) n.267G>T c.367G>T (p.Glu123Ter) c.247G>T (p.Glu83Ter) c.427G>T (p.Glu143Ter) c.268G>T (p.Glu90Ter) c.160G>T (p.Glu54Ter) c.178G>T (p.Glu60Ter) | |
2 | g.127421397A= | CA1286880887 | PROC | c.185A= (p.Glu62=) c.150A= (p.Gly50=) n.268A= c.368A= (p.Glu123=) c.248A= (p.Glu83=) c.428A= (p.Glu143=) c.269A= (p.Glu90=) c.161A= (p.Glu54=) c.179A= (p.Glu60=) | |
2 | g.127421397A>C | CA114402 | PROC | c.185A>C (p.Glu62Ala) c.150A>C (p.Gly50=) n.268A>C c.368A>C (p.Glu123Ala) c.248A>C (p.Glu83Ala) c.428A>C (p.Glu143Ala) c.269A>C (p.Glu90Ala) c.161A>C (p.Glu54Ala) c.179A>C (p.Glu60Ala) | ClinVar dbSNP |
2 | g.127421397A>G | CA348398051 | PROC | c.185A>G (p.Glu62Gly) c.150A>G (p.Gly50=) n.268A>G c.368A>G (p.Glu123Gly) c.248A>G (p.Glu83Gly) c.428A>G (p.Glu143Gly) c.269A>G (p.Glu90Gly) c.161A>G (p.Glu54Gly) c.179A>G (p.Glu60Gly) | |
2 | g.127421397A>T | CA348398053 | PROC | c.185A>T (p.Glu62Val) c.150A>T (p.Gly50=) n.268A>T c.368A>T (p.Glu123Val) c.248A>T (p.Glu83Val) c.428A>T (p.Glu143Val) c.269A>T (p.Glu90Val) c.161A>T (p.Glu54Val) c.179A>T (p.Glu60Val) | |
2 | g.127421398G>A | CA428617446 | PROC | c.186G>A (p.Glu62=) c.151G>A (p.Asp51Asn) n.269G>A c.369G>A (p.Glu123=) c.249G>A (p.Glu83=) c.429G>A (p.Glu143=) c.270G>A (p.Glu90=) c.162G>A (p.Glu54=) c.180G>A (p.Glu60=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127421398G>C | CA348398059 | PROC | c.186G>C (p.Glu62Asp) c.151G>C (p.Asp51His) n.269G>C c.369G>C (p.Glu123Asp) c.249G>C (p.Glu83Asp) c.429G>C (p.Glu143Asp) c.270G>C (p.Glu90Asp) c.162G>C (p.Glu54Asp) c.180G>C (p.Glu60Asp) | |
2 | g.127421398G= | CA1286880890 | PROC | c.186G= (p.Glu62=) c.151G= (p.Asp51=) n.269G= c.369G= (p.Glu123=) c.249G= (p.Glu83=) c.429G= (p.Glu143=) c.270G= (p.Glu90=) c.162G= (p.Glu54=) c.180G= (p.Glu60=) | |
2 | g.127421398G>T | CA348398061 | PROC | c.186G>T (p.Glu62Asp) c.151G>T (p.Asp51Tyr) n.269G>T c.369G>T (p.Glu123Asp) c.249G>T (p.Glu83Asp) c.429G>T (p.Glu143Asp) c.270G>T (p.Glu90Asp) c.162G>T (p.Glu54Asp) c.180G>T (p.Glu60Asp) | |
2 | g.127421399A= | CA1286880893 | PROC | c.187A= (p.Ile63=) c.152A= (p.Asp51=) n.270A= c.370A= (p.Ile124=) c.250A= (p.Ile84=) c.430A= (p.Ile144=) c.271A= (p.Ile91=) c.163A= (p.Ile55=) c.181A= (p.Ile61=) | |
2 | g.127421399A>C | CA348398067 | PROC | c.187A>C (p.Ile63Leu) c.152A>C (p.Asp51Ala) n.270A>C c.370A>C (p.Ile124Leu) c.250A>C (p.Ile84Leu) c.430A>C (p.Ile144Leu) c.271A>C (p.Ile91Leu) c.163A>C (p.Ile55Leu) c.181A>C (p.Ile61Leu) | |
2 | g.127421399A>G | CA348398070 | PROC | c.187A>G (p.Ile63Val) c.152A>G (p.Asp51Gly) n.270A>G c.370A>G (p.Ile124Val) c.250A>G (p.Ile84Val) c.430A>G (p.Ile144Val) c.271A>G (p.Ile91Val) c.163A>G (p.Ile55Val) c.181A>G (p.Ile61Val) | |
2 | g.127421399A>T | CA348398071 | PROC | c.187A>T (p.Ile63Phe) c.152A>T (p.Asp51Val) n.270A>T c.370A>T (p.Ile124Phe) c.250A>T (p.Ile84Phe) c.430A>T (p.Ile144Phe) c.271A>T (p.Ile91Phe) c.163A>T (p.Ile55Phe) c.181A>T (p.Ile61Phe) | dbSNP gnomAD v4 |
2 | g.127421400T>A | CA348398072 | PROC | c.188T>A (p.Ile63Asn) c.153T>A (p.Asp51Glu) n.271T>A c.371T>A (p.Ile124Asn) c.251T>A (p.Ile84Asn) c.431T>A (p.Ile144Asn) c.272T>A (p.Ile91Asn) c.164T>A (p.Ile55Asn) c.182T>A (p.Ile61Asn) | dbSNP gnomAD v4 |
2 | g.127421400T>C | CA348398073 | PROC | c.188T>C (p.Ile63Thr) c.153T>C (p.Asp51=) n.271T>C c.371T>C (p.Ile124Thr) c.251T>C (p.Ile84Thr) c.431T>C (p.Ile144Thr) c.272T>C (p.Ile91Thr) c.164T>C (p.Ile55Thr) c.182T>C (p.Ile61Thr) | dbSNP gnomAD v4 |
2 | g.127421400T>G | CA348398074 | PROC | c.188T>G (p.Ile63Ser) c.153T>G (p.Asp51Glu) n.271T>G c.371T>G (p.Ile124Ser) c.251T>G (p.Ile84Ser) c.431T>G (p.Ile144Ser) c.272T>G (p.Ile91Ser) c.164T>G (p.Ile55Ser) c.182T>G (p.Ile61Ser) | |
2 | g.127421400T= | CA1286880898 | PROC | c.188T= (p.Ile63=) c.153T= (p.Asp51=) n.271T= c.371T= (p.Ile124=) c.251T= (p.Ile84=) c.431T= (p.Ile144=) c.272T= (p.Ile91=) c.164T= (p.Ile55=) c.182T= (p.Ile61=) | |
2 | g.127421401C>A | CA428617448 | PROC | c.189C>A (p.Ile63=) c.154C>A (p.Leu52Met) n.272C>A c.372C>A (p.Ile124=) c.252C>A (p.Ile84=) c.432C>A (p.Ile144=) c.273C>A (p.Ile91=) c.165C>A (p.Ile55=) c.183C>A (p.Ile61=) | |
2 | g.127421401C>G | CA348398077 | PROC | c.189C>G (p.Ile63Met) c.154C>G (p.Leu52Val) n.272C>G c.372C>G (p.Ile124Met) c.252C>G (p.Ile84Met) c.432C>G (p.Ile144Met) c.273C>G (p.Ile91Met) c.165C>G (p.Ile55Met) c.183C>G (p.Ile61Met) | |
2 | g.127421401C>T | CA428617447 | PROC | c.189C>T (p.Ile63=) c.154C>T (p.Leu52=) n.272C>T c.372C>T (p.Ile124=) c.252C>T (p.Ile84=) c.432C>T (p.Ile144=) c.273C>T (p.Ile91=) c.165C>T (p.Ile55=) c.183C>T (p.Ile61=) |