Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421297A>CCA348397666PROCc.85A>C (p.Ser29Arg)
c.268A>C (p.Ser90Arg)
c.148A>C (p.Ser50Arg)
c.349-21A>C (p.=)
c.190-21A>C (p.=)
c.61A>C (p.Ser21Arg)
c.79A>C (p.Ser27Arg)
c.71-21A>C (p.=)
n.168A>C
2g.127421297A>GCA348397667PROCc.85A>G (p.Ser29Gly)
c.268A>G (p.Ser90Gly)
c.148A>G (p.Ser50Gly)
c.349-21A>G (p.=)
c.190-21A>G (p.=)
c.61A>G (p.Ser21Gly)
c.79A>G (p.Ser27Gly)
c.71-21A>G (p.=)
n.168A>G
 gnomAD
2g.127421297A>TCA348397668PROCc.85A>T (p.Ser29Cys)
c.268A>T (p.Ser90Cys)
c.148A>T (p.Ser50Cys)
c.349-21A>T (p.=)
c.190-21A>T (p.=)
c.61A>T (p.Ser21Cys)
c.79A>T (p.Ser27Cys)
c.71-21A>T (p.=)
n.168A>T
2g.127421298G>ACA348397669PROCc.86G>A (p.Ser29Asn)
c.269G>A (p.Ser90Asn)
c.149G>A (p.Ser50Asn)
c.349-20G>A (p.=)
c.190-20G>A (p.=)
c.62G>A (p.Ser21Asn)
c.80G>A (p.Ser27Asn)
c.71-20G>A (p.=)
n.169G>A
2g.127421298G>CCA348397670PROCc.86G>C (p.Ser29Thr)
c.269G>C (p.Ser90Thr)
c.149G>C (p.Ser50Thr)
c.349-20G>C (p.=)
c.190-20G>C (p.=)
c.62G>C (p.Ser21Thr)
c.80G>C (p.Ser27Thr)
c.71-20G>C (p.=)
n.169G>C
2g.127421298G>TCA348397671PROCc.86G>T (p.Ser29Ile)
c.269G>T (p.Ser90Ile)
c.149G>T (p.Ser50Ile)
c.349-20G>T (p.=)
c.190-20G>T (p.=)
c.62G>T (p.Ser21Ile)
c.80G>T (p.Ser27Ile)
c.71-20G>T (p.=)
n.169G>T
2g.127421299C>ACA348397672PROCc.87C>A (p.Ser29Arg)
c.270C>A (p.Ser90Arg)
c.150C>A (p.Ser50Arg)
c.349-19C>A (p.=)
c.190-19C>A (p.=)
c.63C>A (p.Ser21Arg)
c.81C>A (p.Ser27Arg)
c.71-19C>A (p.=)
n.170C>A
2g.127421299C>GCA348397673PROCc.87C>G (p.Ser29Arg)
c.270C>G (p.Ser90Arg)
c.150C>G (p.Ser50Arg)
c.349-19C>G (p.=)
c.190-19C>G (p.=)
c.63C>G (p.Ser21Arg)
c.81C>G (p.Ser27Arg)
c.71-19C>G (p.=)
n.170C>G
2g.127421299C>TCA428617331PROCc.87C>T (p.Ser29=)
c.270C>T (p.Ser90=)
c.150C>T (p.Ser50=)
c.349-19C>T (p.=)
c.190-19C>T (p.=)
c.63C>T (p.Ser21=)
c.81C>T (p.Ser27=)
c.71-19C>T (p.=)
n.170C>T
2g.127421300A>CCA348397675PROCc.88A>C (p.Ser30Arg)
c.271A>C (p.Ser91Arg)
c.151A>C (p.Ser51Arg)
c.349-18A>C (p.=)
c.190-18A>C (p.=)
c.64A>C (p.Ser22Arg)
c.82A>C (p.Ser28Arg)
c.71-18A>C (p.=)
n.171A>C
2g.127421300A>GCA348397676PROCc.88A>G (p.Ser30Gly)
c.271A>G (p.Ser91Gly)
c.151A>G (p.Ser51Gly)
c.349-18A>G (p.=)
c.190-18A>G (p.=)
c.64A>G (p.Ser22Gly)
c.82A>G (p.Ser28Gly)
c.71-18A>G (p.=)
n.171A>G
2g.127421300A>TCA348397674PROCc.88A>T (p.Ser30Cys)
c.271A>T (p.Ser91Cys)
c.151A>T (p.Ser51Cys)
c.349-18A>T (p.=)
c.190-18A>T (p.=)
c.64A>T (p.Ser22Cys)
c.82A>T (p.Ser28Cys)
c.71-18A>T (p.=)
n.171A>T
2g.127421301G>ACA348397677PROCc.89G>A (p.Ser30Asn)
c.272G>A (p.Ser91Asn)
c.152G>A (p.Ser51Asn)
c.349-17G>A (p.=)
c.190-17G>A (p.=)
c.65G>A (p.Ser22Asn)
c.83G>A (p.Ser28Asn)
c.71-17G>A (p.=)
n.172G>A
2g.127421301G>CCA348397678PROCc.89G>C (p.Ser30Thr)
c.272G>C (p.Ser91Thr)
c.152G>C (p.Ser51Thr)
c.349-17G>C (p.=)
c.190-17G>C (p.=)
c.65G>C (p.Ser22Thr)
c.83G>C (p.Ser28Thr)
c.71-17G>C (p.=)
n.172G>C
2g.127421301G>TCA348397679PROCc.89G>T (p.Ser30Ile)
c.272G>T (p.Ser91Ile)
c.152G>T (p.Ser51Ile)
c.349-17G>T (p.=)
c.190-17G>T (p.=)
c.65G>T (p.Ser22Ile)
c.83G>T (p.Ser28Ile)
c.71-17G>T (p.=)
n.172G>T
2g.127421302C>ACA55342840PROCc.90C>A (p.Ser30Arg)
c.273C>A (p.Ser91Arg)
c.153C>A (p.Ser51Arg)
c.349-16C>A (p.=)
c.190-16C>A (p.=)
c.66C>A (p.Ser22Arg)
c.84C>A (p.Ser28Arg)
c.71-16C>A (p.=)
n.173C>A
 dbSNP
2g.127421302C>GCA348397681PROCc.90C>G (p.Ser30Arg)
c.273C>G (p.Ser91Arg)
c.153C>G (p.Ser51Arg)
c.349-16C>G (p.=)
c.190-16C>G (p.=)
c.66C>G (p.Ser22Arg)
c.84C>G (p.Ser28Arg)
c.71-16C>G (p.=)
n.173C>G
2g.127421302C>TCA1859235PROCc.90C>T (p.Ser30=)
c.273C>T (p.Ser91=)
c.153C>T (p.Ser51=)
c.349-16C>T (p.=)
c.190-16C>T (p.=)
c.66C>T (p.Ser22=)
c.84C>T (p.Ser28=)
c.71-16C>T (p.=)
n.173C>T
 dbSNP ExAC gnomAD
2g.127421303G>ACA1859236PROCc.91G>A (p.Glu31Lys)
c.274G>A (p.Glu92Lys)
c.154G>A (p.Glu52Lys)
c.349-15G>A (p.=)
c.190-15G>A (p.=)
c.67G>A (p.Glu23Lys)
c.85G>A (p.Glu29Lys)
c.71-15G>A (p.=)
n.174G>A
 ClinVar dbSNP ExAC gnomAD
2g.127421303G>CCA348397682PROCc.91G>C (p.Glu31Gln)
c.274G>C (p.Glu92Gln)
c.154G>C (p.Glu52Gln)
c.349-15G>C (p.=)
c.190-15G>C (p.=)
c.67G>C (p.Glu23Gln)
c.85G>C (p.Glu29Gln)
c.71-15G>C (p.=)
n.174G>C
2g.127421303G>TCA348397683PROCc.91G>T (p.Glu31Ter)
c.274G>T (p.Glu92Ter)
c.154G>T (p.Glu52Ter)
c.349-15G>T (p.=)
c.190-15G>T (p.=)
c.67G>T (p.Glu23Ter)
c.85G>T (p.Glu29Ter)
c.71-15G>T (p.=)
n.174G>T
2g.127421304A>CCA348397684PROCc.92A>C (p.Glu31Ala)
c.275A>C (p.Glu92Ala)
c.155A>C (p.Glu52Ala)
c.349-14A>C (p.=)
c.190-14A>C (p.=)
c.68A>C (p.Glu23Ala)
c.86A>C (p.Glu29Ala)
c.71-14A>C (p.=)
n.175A>C
2g.127421304A>GCA348397685PROCc.92A>G (p.Glu31Gly)
c.275A>G (p.Glu92Gly)
c.155A>G (p.Glu52Gly)
c.349-14A>G (p.=)
c.190-14A>G (p.=)
c.68A>G (p.Glu23Gly)
c.86A>G (p.Glu29Gly)
c.71-14A>G (p.=)
n.175A>G
2g.127421304A>TCA348397686PROCc.92A>T (p.Glu31Val)
c.275A>T (p.Glu92Val)
c.155A>T (p.Glu52Val)
c.349-14A>T (p.=)
c.190-14A>T (p.=)
c.68A>T (p.Glu23Val)
c.86A>T (p.Glu29Val)
c.71-14A>T (p.=)
n.175A>T
2g.127421305G>ACA428617337PROCc.93G>A (p.Glu31=)
c.276G>A (p.Glu92=)
c.156G>A (p.Glu52=)
c.349-13G>A (p.=)
c.190-13G>A (p.=)
c.69G>A (p.Glu23=)
c.87G>A (p.Glu29=)
c.71-13G>A (p.=)
n.176G>A
2g.127421305G>CCA348397687PROCc.93G>C (p.Glu31Asp)
c.276G>C (p.Glu92Asp)
c.156G>C (p.Glu52Asp)
c.349-13G>C (p.=)
c.190-13G>C (p.=)
c.69G>C (p.Glu23Asp)
c.87G>C (p.Glu29Asp)
c.71-13G>C (p.=)
n.176G>C
2g.127421305G>TCA348397688PROCc.93G>T (p.Glu31Asp)
c.276G>T (p.Glu92Asp)
c.156G>T (p.Glu52Asp)
c.349-13G>T (p.=)
c.190-13G>T (p.=)
c.69G>T (p.Glu23Asp)
c.87G>T (p.Glu29Asp)
c.71-13G>T (p.=)
n.176G>T
2g.127421306C>ACA348397689PROCc.94C>A (p.Arg32Ser)
c.277C>A (p.Arg93Ser)
c.157C>A (p.Arg53Ser)
c.349-12C>A (p.=)
c.190-12C>A (p.=)
c.70C>A (p.Arg24Ser)
c.88C>A (p.Arg30Ser)
c.71-12C>A (p.=)
n.177C>A
 COSMIC
2g.127421306C>GCA348397691PROCc.94C>G (p.Arg32Gly)
c.277C>G (p.Arg93Gly)
c.157C>G (p.Arg53Gly)
c.349-12C>G (p.=)
c.190-12C>G (p.=)
c.70C>G (p.Arg24Gly)
c.88C>G (p.Arg30Gly)
c.71-12C>G (p.=)
n.177C>G
2g.127421306C>TCA348397690PROCc.94C>T (p.Arg32Cys)
c.277C>T (p.Arg93Cys)
c.157C>T (p.Arg53Cys)
c.349-12C>T (p.=)
c.190-12C>T (p.=)
c.70C>T (p.Arg24Cys)
c.88C>T (p.Arg30Cys)
c.71-12C>T (p.=)
n.177C>T
2g.127421307G>ACA348397692PROCc.95G>A (p.Arg32His)
c.278G>A (p.Arg93His)
c.158G>A (p.Arg53His)
c.349-11G>A (p.=)
c.190-11G>A (p.=)
c.71G>A (p.Arg24His)
c.89G>A (p.Arg30His)
c.71-11G>A (p.=)
n.178G>A
 gnomAD
2g.127421307G>CCA1859237PROCc.95G>C (p.Arg32Pro)
c.278G>C (p.Arg93Pro)
c.158G>C (p.Arg53Pro)
c.349-11G>C (p.=)
c.190-11G>C (p.=)
c.71G>C (p.Arg24Pro)
c.89G>C (p.Arg30Pro)
c.71-11G>C (p.=)
n.178G>C
 dbSNP ExAC gnomAD
2g.127421307G>TCA348397693PROCc.95G>T (p.Arg32Leu)
c.278G>T (p.Arg93Leu)
c.158G>T (p.Arg53Leu)
c.349-11G>T (p.=)
c.190-11G>T (p.=)
c.71G>T (p.Arg24Leu)
c.89G>T (p.Arg30Leu)
c.71-11G>T (p.=)
n.178G>T
2g.127421308T>ACA428617341PROCc.96T>A (p.Arg32=)
c.279T>A (p.Arg93=)
c.159T>A (p.Arg53=)
c.349-10T>A (p.=)
c.190-10T>A (p.=)
c.72T>A (p.Arg24=)
c.90T>A (p.Arg30=)
c.71-10T>A (p.=)
n.179T>A
2g.127421308T>CCA428617342PROCc.96T>C (p.Arg32=)
c.279T>C (p.Arg93=)
c.159T>C (p.Arg53=)
c.349-10T>C (p.=)
c.190-10T>C (p.=)
c.72T>C (p.Arg24=)
c.90T>C (p.Arg30=)
c.71-10T>C (p.=)
n.179T>C
2g.127421308T>GCA428617344PROCc.96T>G (p.Arg32=)
c.279T>G (p.Arg93=)
c.159T>G (p.Arg53=)
c.349-10T>G (p.=)
c.190-10T>G (p.=)
c.72T>G (p.Arg24=)
c.90T>G (p.Arg30=)
c.71-10T>G (p.=)
n.179T>G
2g.127421309G>ACA348397694PROCc.97G>A (p.Ala33Thr)
c.280G>A (p.Ala94Thr)
c.160G>A (p.Ala54Thr)
c.349-9G>A (p.=)
c.190-9G>A (p.=)
c.73G>A (p.Ala25Thr)
c.91G>A (p.Ala31Thr)
c.71-9G>A (p.=)
n.180G>A
2g.127421309G>CCA348397695PROCc.97G>C (p.Ala33Pro)
c.280G>C (p.Ala94Pro)
c.160G>C (p.Ala54Pro)
c.349-9G>C (p.=)
c.190-9G>C (p.=)
c.73G>C (p.Ala25Pro)
c.91G>C (p.Ala31Pro)
c.71-9G>C (p.=)
n.180G>C
2g.127421309G>TCA348397696PROCc.97G>T (p.Ala33Ser)
c.280G>T (p.Ala94Ser)
c.160G>T (p.Ala54Ser)
c.349-9G>T (p.=)
c.190-9G>T (p.=)
c.73G>T (p.Ala25Ser)
c.91G>T (p.Ala31Ser)
c.71-9G>T (p.=)
n.180G>T
2g.127421310C>ACA348397697PROCc.98C>A (p.Ala33Asp)
c.281C>A (p.Ala94Asp)
c.161C>A (p.Ala54Asp)
c.349-8C>A (p.=)
c.190-8C>A (p.=)
c.74C>A (p.Ala25Asp)
c.92C>A (p.Ala31Asp)
c.71-8C>A (p.=)
n.181C>A
2g.127421310C>GCA348397698PROCc.98C>G (p.Ala33Gly)
c.281C>G (p.Ala94Gly)
c.161C>G (p.Ala54Gly)
c.349-8C>G (p.=)
c.190-8C>G (p.=)
c.74C>G (p.Ala25Gly)
c.92C>G (p.Ala31Gly)
c.71-8C>G (p.=)
n.181C>G
2g.127421310C>TCA348397699PROCc.98C>T (p.Ala33Val)
c.281C>T (p.Ala94Val)
c.161C>T (p.Ala54Val)
c.349-8C>T (p.=)
c.190-8C>T (p.=)
c.74C>T (p.Ala25Val)
c.92C>T (p.Ala31Val)
c.71-8C>T (p.=)
n.181C>T
2g.127421311C>ACA428617350PROCc.99C>A (p.Ala33=)
c.282C>A (p.Ala94=)
c.162C>A (p.Ala54=)
c.349-7C>A (p.=)
c.190-7C>A (p.=)
c.75C>A (p.Ala25=)
c.93C>A (p.Ala31=)
c.71-7C>A (p.=)
n.182C>A
2g.127421311C>GCA428617351PROCc.99C>G (p.Ala33=)
c.282C>G (p.Ala94=)
c.162C>G (p.Ala54=)
c.349-7C>G (p.=)
c.190-7C>G (p.=)
c.75C>G (p.Ala25=)
c.93C>G (p.Ala31=)
c.71-7C>G (p.=)
n.182C>G
2g.127421311C>TCA428617349PROCc.99C>T (p.Ala33=)
c.282C>T (p.Ala94=)
c.162C>T (p.Ala54=)
c.349-7C>T (p.=)
c.190-7C>T (p.=)
c.75C>T (p.Ala25=)
c.93C>T (p.Ala31=)
c.71-7C>T (p.=)
n.182C>T
2g.127421312C>ACA348397700PROCc.100C>A (p.His34Asn)
c.283C>A (p.His95Asn)
c.163C>A (p.His55Asn)
c.349-6C>A (p.=)
c.190-6C>A (p.=)
c.76C>A (p.His26Asn)
c.94C>A (p.His32Asn)
c.71-6C>A (p.=)
n.183C>A
2g.127421312C>GCA348397701PROCc.100C>G (p.His34Asp)
c.283C>G (p.His95Asp)
c.163C>G (p.His55Asp)
c.349-6C>G (p.=)
c.190-6C>G (p.=)
c.76C>G (p.His26Asp)
c.94C>G (p.His32Asp)
c.71-6C>G (p.=)
n.183C>G
2g.127421312C>TCA348397702PROCc.100C>T (p.His34Tyr)
c.283C>T (p.His95Tyr)
c.163C>T (p.His55Tyr)
c.349-6C>T (p.=)
c.190-6C>T (p.=)
c.76C>T (p.His26Tyr)
c.94C>T (p.His32Tyr)
c.71-6C>T (p.=)
n.183C>T
2g.127421313A>CCA348397703PROCc.101A>C (p.His34Pro)
c.284A>C (p.His95Pro)
c.164A>C (p.His55Pro)
c.349-5A>C (p.=)
c.190-5A>C (p.=)
c.77A>C (p.His26Pro)
c.95A>C (p.His32Pro)
c.71-5A>C (p.=)
n.184A>C
2g.127421313A>GCA348397705PROCc.101A>G (p.His34Arg)
c.284A>G (p.His95Arg)
c.164A>G (p.His55Arg)
c.349-5A>G (p.=)
c.190-5A>G (p.=)
c.77A>G (p.His26Arg)
c.95A>G (p.His32Arg)
c.71-5A>G (p.=)
n.184A>G

Number of alleles fetched