Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421297A=CA1286881578PROCc.85A= (p.Ser29=)
c.71-21A= (n.71-21A=)
n.168A=
c.268A= (p.Ser90=)
c.148A= (p.Ser50=)
c.349-21A= (n.349-21A=)
c.190-21A= (n.190-21A=)
c.61A= (p.Ser21=)
c.79A= (p.Ser27=)
2g.127421297A>CCA348397666PROCc.85A>C (p.Ser29Arg)
c.71-21A>C (n.71-21A>C)
n.168A>C
c.268A>C (p.Ser90Arg)
c.148A>C (p.Ser50Arg)
c.349-21A>C (n.349-21A>C)
c.190-21A>C (n.190-21A>C)
c.61A>C (p.Ser21Arg)
c.79A>C (p.Ser27Arg)
2g.127421297A>GCA348397667PROCc.85A>G (p.Ser29Gly)
c.71-21A>G (n.71-21A>G)
n.168A>G
c.268A>G (p.Ser90Gly)
c.148A>G (p.Ser50Gly)
c.349-21A>G (n.349-21A>G)
c.190-21A>G (n.190-21A>G)
c.61A>G (p.Ser21Gly)
c.79A>G (p.Ser27Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.127421297A>TCA348397668PROCc.85A>T (p.Ser29Cys)
c.71-21A>T (n.71-21A>T)
n.168A>T
c.268A>T (p.Ser90Cys)
c.148A>T (p.Ser50Cys)
c.349-21A>T (n.349-21A>T)
c.190-21A>T (n.190-21A>T)
c.61A>T (p.Ser21Cys)
c.79A>T (p.Ser27Cys)
2g.127421298G>ACA348397669PROCc.86G>A (p.Ser29Asn)
c.71-20G>A (n.71-20G>A)
n.169G>A
c.269G>A (p.Ser90Asn)
c.149G>A (p.Ser50Asn)
c.349-20G>A (n.349-20G>A)
c.190-20G>A (n.190-20G>A)
c.62G>A (p.Ser21Asn)
c.80G>A (p.Ser27Asn)
2g.127421298G>CCA348397670PROCc.86G>C (p.Ser29Thr)
c.71-20G>C (n.71-20G>C)
n.169G>C
c.269G>C (p.Ser90Thr)
c.149G>C (p.Ser50Thr)
c.349-20G>C (n.349-20G>C)
c.190-20G>C (n.190-20G>C)
c.62G>C (p.Ser21Thr)
c.80G>C (p.Ser27Thr)
2g.127421298G>TCA348397671PROCc.86G>T (p.Ser29Ile)
c.71-20G>T (n.71-20G>T)
n.169G>T
c.269G>T (p.Ser90Ile)
c.149G>T (p.Ser50Ile)
c.349-20G>T (n.349-20G>T)
c.190-20G>T (n.190-20G>T)
c.62G>T (p.Ser21Ile)
c.80G>T (p.Ser27Ile)
2g.127421299C>ACA348397672PROCc.87C>A (p.Ser29Arg)
c.71-19C>A (n.71-19C>A)
n.170C>A
c.270C>A (p.Ser90Arg)
c.150C>A (p.Ser50Arg)
c.349-19C>A (n.349-19C>A)
c.190-19C>A (n.190-19C>A)
c.63C>A (p.Ser21Arg)
c.81C>A (p.Ser27Arg)
2g.127421299C>GCA348397673PROCc.87C>G (p.Ser29Arg)
c.71-19C>G (n.71-19C>G)
n.170C>G
c.270C>G (p.Ser90Arg)
c.150C>G (p.Ser50Arg)
c.349-19C>G (n.349-19C>G)
c.190-19C>G (n.190-19C>G)
c.63C>G (p.Ser21Arg)
c.81C>G (p.Ser27Arg)
2g.127421299C>TCA428617331PROCc.87C>T (p.Ser29=)
c.71-19C>T (n.71-19C>T)
n.170C>T
c.270C>T (p.Ser90=)
c.150C>T (p.Ser50=)
c.349-19C>T (n.349-19C>T)
c.190-19C>T (n.190-19C>T)
c.63C>T (p.Ser21=)
c.81C>T (p.Ser27=)
2g.127421300A>CCA348397675PROCc.88A>C (p.Ser30Arg)
c.71-18A>C (n.71-18A>C)
n.171A>C
c.271A>C (p.Ser91Arg)
c.151A>C (p.Ser51Arg)
c.349-18A>C (n.349-18A>C)
c.190-18A>C (n.190-18A>C)
c.64A>C (p.Ser22Arg)
c.82A>C (p.Ser28Arg)
2g.127421300A>GCA348397676PROCc.88A>G (p.Ser30Gly)
c.71-18A>G (n.71-18A>G)
n.171A>G
c.271A>G (p.Ser91Gly)
c.151A>G (p.Ser51Gly)
c.349-18A>G (n.349-18A>G)
c.190-18A>G (n.190-18A>G)
c.64A>G (p.Ser22Gly)
c.82A>G (p.Ser28Gly)
2g.127421300A>TCA348397674PROCc.88A>T (p.Ser30Cys)
c.71-18A>T (n.71-18A>T)
n.171A>T
c.271A>T (p.Ser91Cys)
c.151A>T (p.Ser51Cys)
c.349-18A>T (n.349-18A>T)
c.190-18A>T (n.190-18A>T)
c.64A>T (p.Ser22Cys)
c.82A>T (p.Ser28Cys)
2g.127421301G>ACA348397677PROCc.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
2g.127421301G>CCA348397678PROCc.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)
2g.127421301G>TCA348397679PROCc.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)
2g.127421303_127421310delCA2660995564PROCc.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
2g.127421302C>ACA55342840PROCc.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
2g.127421302C=CA1286881585PROCc.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=)
2g.127421302C>GCA348397681PROCc.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)
2g.127421302C>TCA1859235PROCc.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
2g.127421303G>ACA1859236PROCc.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
2g.127421303G>CCA348397682PROCc.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)
2g.127421303G=CA1286881590PROCc.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=)
2g.127421303G>TCA348397683PROCc.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
2g.127421304A>CCA348397684PROCc.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)
2g.127421304A>GCA348397685PROCc.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)
2g.127421304A>TCA348397686PROCc.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
2g.127421305G>ACA428617337PROCc.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=)
2g.127421305G>CCA348397687PROCc.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)
2g.127421305G>TCA348397688PROCc.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)
2g.127421306C>ACA348397689PROCc.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
2g.127421306C>GCA348397691PROCc.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)
2g.127421306C>TCA348397690PROCc.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
2g.127421307G>ACA348397692PROCc.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
2g.127421307G>CCA1859237PROCc.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
2g.127421307G=CA1286881595PROCc.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=)
2g.127421307G>TCA348397693PROCc.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
2g.127421308T>ACA428617341PROCc.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=)
2g.127421308T>CCA428617342PROCc.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
2g.127421308T>GCA428617344PROCc.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=)
2g.127421309G>ACA348397694PROCc.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)
2g.127421309G>CCA348397695PROCc.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)
2g.127421309G>TCA348397696PROCc.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)
2g.127421310C>ACA348397697PROCc.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)
2g.127421310C>GCA348397698PROCc.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)
2g.127421310C>TCA348397699PROCc.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)
2g.127421311C>ACA428617350PROCc.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=)
2g.127421311C>GCA428617351PROCc.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=)
2g.127421311C>TCA428617349PROCc.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=)
2g.127421312C>ACA348397700PROCc.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)
2g.127421312C>GCA348397701PROCc.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)
2g.127421312C>TCA348397702PROCc.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)
2g.127421313A=CA1286881598PROCc.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=)
2g.127421313A>CCA348397703PROCc.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
2g.127421313A>GCA348397705PROCc.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)
2g.127421313A>TCA348397704PROCc.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)
2g.127421314C>ACA348397706PROCc.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)
2g.127421314C>GCA348397707PROCc.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)
2g.127421314C>TCA428617353PROCc.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=)
2g.127421315C>ACA348397708PROCc.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)
2g.127421315C>GCA348397709PROCc.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)
2g.127421315C>TCA348397710PROCc.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)
2g.127421316A=CA1286881603PROCc.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=)
2g.127421316A>CCA348397711PROCc.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)
2g.127421316A>GCA348397712PROCc.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
2g.127421316A>TCA348397713PROCc.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)
2g.127421317G>ACA428617355PROCc.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=)
2g.127421317G>CCA1859238PROCc.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
2g.127421317G=CA1286881606PROCc.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=)
2g.127421317G>TCA348397714PROCc.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)
2g.127421318G>ACA348397715PROCc.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
2g.127421318G>CCA348397716PROCc.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)
2g.127421318G=CA1286881608PROCc.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=)
2g.127421318G>TCA348397717PROCc.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
2g.127421319T>ACA348397720PROCc.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)
2g.127421319T>CCA348397719PROCc.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)
2g.127421319T>GCA348397718PROCc.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)
2g.127421320G>ACA428617356PROCc.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
2g.127421320G>CCA428617357PROCc.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=)
2g.127421320G>TCA428617358PROCc.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=)
2g.127421321C>ACA348397721PROCc.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)
2g.127421321C=CA1286881611PROCc.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=)
2g.127421321C>GCA1859239PROCc.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
2g.127421321C>TCA428617361PROCc.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=)
2g.127421322T>ACA348397722PROCc.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)
2g.127421322T>CCA1859240PROCc.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
2g.127421322T>GCA348397723PROCc.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)
2g.127421322T=CA1286881613PROCc.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=)
2g.127421323G>ACA428617362PROCc.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
2g.127421323G>CCA428617363PROCc.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=)
2g.127421323G>TCA428617364PROCc.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=)
2g.127421324C>ACA428617365PROCc.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=)
2g.127421324C=CA1286881621PROCc.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=)
2g.127421324C>GCA348397724PROCc.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)
2g.127421324C>TCA1859241PROCc.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
2g.127421325G>ACA1859242PROCc.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
2g.127421325G>CCA348397725PROCc.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
2g.127421325G=CA1286881625PROCc.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=)
2g.127421325G>TCA348397726PROCc.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)
2g.127421326G>ACA428617366PROCc.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=)
2g.127421326G>CCA428617367PROCc.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=)
2g.127421326G>TCA428617368PROCc.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=)
2g.127421326_127421328delCA2519644138PROCc.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)
2g.127421327A>CCA348397727PROCc.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)
2g.127421327A>GCA348397728PROCc.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)
2g.127421327A>TCA348397729PROCc.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)
2g.127421328T>ACA348397732PROCc.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)
2g.127421328T>CCA348397731PROCc.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)
2g.127421328T>GCA348397730PROCc.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)
2g.127421329C>ACA428617369PROCc.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
2g.127421329C=CA1286881633PROCc.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=)
2g.127421329C>GCA348397733PROCc.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)
2g.127421329C>TCA428617371PROCc.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=)
2g.127421330_127421336delCA2586969841PROCc.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)
2g.127421330C>ACA348397734PROCc.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)
2g.127421330C=CA1286881635PROCc.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=)
2g.127421330C>GCA348397735PROCc.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)
2g.127421330C>TCA1859243PROCc.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
2g.127421331G>ACA1859244PROCc.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
2g.127421331G>CCA348397736PROCc.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)
2g.127421331G=CA1286881641PROCc.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=)
2g.127421331G>TCA348397737PROCc.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
2g.127421332C>ACA428617377PROCc.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=)
2g.127421332C>GCA428617376PROCc.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=)
2g.127421332C>TCA428617374PROCc.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=)
2g.127421333A>CCA348397740PROCc.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)
2g.127421333A>GCA348397738PROCc.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)
2g.127421333A>TCA348397739PROCc.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)
2g.127421334A>CCA348397741PROCc.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)
2g.127421334A>GCA348397742PROCc.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)
2g.127421334A>TCA348397743PROCc.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)
2g.127421335A>CCA348397744PROCc.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)
2g.127421335A>GCA428617378PROCc.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=)
2g.127421335A>TCA348397745PROCc.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)
2g.127421336C>ACA348397746PROCc.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
2g.127421336C=CA1286881645PROCc.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=)
2g.127421336C>GCA348397747PROCc.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)
2g.127421336C>TCA1859245PROCc.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
2g.127421337G>ACA211707PROCc.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
2g.127421337G>CCA348397748PROCc.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)
2g.127421337G=CA1286881651PROCc.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=)
2g.127421337G>TCA348397749PROCc.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
2g.127421338T>ACA428617379PROCc.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
2g.127421338T>CCA428617381PROCc.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=)
2g.127421338T>GCA428617380PROCc.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=)
2g.127421338T=CA1286881657PROCc.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=)
2g.127421339G>ACA1859246PROCc.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
2g.127421339G>CCA348397750PROCc.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
2g.127421339G=CA1286881661PROCc.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=)
2g.127421339G>TCA348397751PROCc.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)
2g.127421340C>ACA348397752PROCc.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
2g.127421340C>GCA348397753PROCc.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)
2g.127421340C>TCA348397754PROCc.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)
2g.127421341C>ACA428617384PROCc.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=)
2g.127421341C=CA1286881665PROCc.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=)
2g.127421341C>GCA428617385PROCc.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=)
2g.127421341C>TCA55342934PROCc.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
2g.127421342A=CA1286881669PROCc.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=)
2g.127421342A>CCA348397755PROCc.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
2g.127421342A>GCA348397756PROCc.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)
2g.127421342A>TCA348397757PROCc.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)
2g.127421343A=CA1286881672PROCc.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=)
2g.127421343A>CCA348397760PROCc.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)
2g.127421343A>GCA348397759PROCc.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
2g.127421343A>TCA348397758PROCc.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)
2g.127421344C>ACA348397761PROCc.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)
2g.127421344C=CA1286881674PROCc.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=)
2g.127421344C>GCA348397762PROCc.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
2g.127421344C>TCA1859247PROCc.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
2g.127421345T>ACA348397763PROCc.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)
2g.127421345T>CCA348397765PROCc.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
2g.127421345T>GCA348397767PROCc.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)
2g.127421346C>ACA348397770PROCc.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)
2g.127421346C>GCA348397772PROCc.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)
2g.127421346C>TCA348397774PROCc.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
2g.127421347C>ACA428617394PROCc.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=)
2g.127421347C=CA1286881677PROCc.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=)
2g.127421347C>GCA428617395PROCc.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=)
2g.127421347C>TCA428617396PROCc.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
2g.127421348_127421350delCA2660995649PROCc.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
2g.127421348T>ACA348397777PROCc.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)
2g.127421348T>CCA348397779PROCc.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
2g.127421348T>GCA348397781PROCc.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)
2g.127421348T=CA1286881680PROCc.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=)
2g.127421349delCA2586969842PROCc.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)
2g.127421349T>ACA348397782PROCc.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)
2g.127421349T>CCA348397783PROCc.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)
2g.127421349T>GCA348397791PROCc.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)
2g.127421350C>ACA348397793PROCc.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)
2g.127421350C=CA1286881683PROCc.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=)
2g.127421350C>GCA1859248PROCc.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
2g.127421350C>TCA428617399PROCc.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
2g.127421351C>ACA348397798PROCc.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)
2g.127421351C>GCA348397800PROCc.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
2g.127421351C>TCA428617401PROCc.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
2g.127421352T>ACA348397806PROCc.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)
2g.127421352T>CCA348397809PROCc.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)
2g.127421352T>GCA348397811PROCc.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)
2g.127421353G>ACA428617406PROCc.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=)
2g.127421353G>CCA428617407PROCc.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=)
2g.127421353G>TCA428617405PROCc.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=)
2g.127421354G>ACA348397814PROCc.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
2g.127421354G>CCA348397816PROCc.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)
2g.127421354G>TCA348397817PROCc.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)
2g.127421355delCA2586969843PROCc.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)
2g.127421355A>CCA348397818PROCc.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)
2g.127421355A>GCA348397819PROCc.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)
2g.127421355A>TCA348397820PROCc.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)
2g.127421356G>ACA428617411PROCc.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
2g.127421356G>CCA348397822PROCc.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)
2g.127421356G>TCA348397823PROCc.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)
2g.127421357G>ACA348397830PROCc.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)
2g.127421357G>CCA348397826PROCc.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)
2g.127421357G>TCA348397828PROCc.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)
2g.127421358A>CCA348397838PROCc.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)
2g.127421358A>GCA348397839PROCc.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)
2g.127421358A>TCA348397841PROCc.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)
2g.127421359G>ACA428617414PROCc.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=)
2g.127421359G>CCA348397843PROCc.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)
2g.127421359G>TCA348397844PROCc.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)
2g.127421360C>ACA348397849PROCc.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)
2g.127421360C>GCA348397846PROCc.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)
2g.127421360C>TCA348397845PROCc.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)
2g.127421361_127421363delCA2660995666PROCc.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
2g.127421361T>ACA348397853PROCc.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)
2g.127421361T>CCA348397856PROCc.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)
2g.127421361T>GCA348397857PROCc.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)
2g.127421362C>ACA428617422PROCc.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=)
2g.127421362C=CA1286880802PROCc.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=)
2g.127421362C>GCA428617423PROCc.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=)
2g.127421362C>TCA428617424PROCc.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
2g.127421363C>ACA348397859PROCc.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
2g.127421363C=CA1286880821PROCc.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=)
2g.127421363C>GCA348397860PROCc.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)
2g.127421363C>TCA1859249PROCc.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
2g.127421364G>ACA348397861PROCc.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
2g.127421364G>CCA348397867PROCc.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)
2g.127421364G=CA1286880825PROCc.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=)
2g.127421364G>TCA348397865PROCc.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)
2g.127421364_127421365delinsGTCA1286880824PROCc.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=)
2g.127421365delCA756625605PROCc.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
2g.127421365T>ACA428617426PROCc.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
2g.127421365T>CCA428617427PROCc.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=)
2g.127421365T>GCA428617428PROCc.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=)
2g.127421365_127421366insGCA2660995691PROCc.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
2g.127421366C>ACA348397869PROCc.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)
2g.127421366C>GCA348397871PROCc.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)
2g.127421366C>TCA348397872PROCc.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)
2g.127421367A>CCA348397873PROCc.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)
2g.127421367A>GCA348397875PROCc.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)
2g.127421367A>TCA348397878PROCc.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)
2g.127421368C>ACA348397881PROCc.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)
2g.127421368C=CA1286880836PROCc.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=)
2g.127421368C>GCA348397883PROCc.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
2g.127421368C>TCA428617429PROCc.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
2g.127421369A>CCA348397886PROCc.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)
2g.127421369A>GCA348397888PROCc.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
2g.127421369A>TCA348397889PROCc.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)
2g.127421370G>ACA348397891PROCc.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)
2g.127421370G>CCA348397895PROCc.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)
2g.127421370G>TCA348397893PROCc.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)
2g.127421371delCA2660995701PROCc.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
2g.127421371C>ACA348397898PROCc.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)
2g.127421371C>GCA348397900PROCc.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)
2g.127421371C>TCA428617430PROCc.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=)
2g.127421372A=CA1286880843PROCc.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=)
2g.127421372A>CCA348397903PROCc.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)
2g.127421372A>GCA348397907PROCc.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)
2g.127421372A>TCA211721PROCc.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
2g.127421373G>ACA348397911PROCc.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
2g.127421373G>CCA348397913PROCc.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)
2g.127421373G>TCA348397915PROCc.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
2g.127421373_127421374insAGTGCA2660995714PROCc.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
2g.127421374C>ACA348397918PROCc.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)
2g.127421374C=CA1286880853PROCc.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=)
2g.127421374C>GCA348397920PROCc.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)
2g.127421374C>TCA428617431PROCc.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
2g.127421375C>ACA348397927PROCc.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
2g.127421375C>GCA348397929PROCc.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)
2g.127421375C>TCA428617432PROCc.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=)
2g.127421376delCA2586969844PROCc.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)
2g.127421376T>ACA348397932PROCc.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)
2g.127421376T>CCA348397935PROCc.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
2g.127421376T>GCA348397936PROCc.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)
2g.127421377G>ACA428617433PROCc.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
2g.127421377G>CCA428617434PROCc.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=)
2g.127421377G>TCA428617435PROCc.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=)
2g.127421377_127421378delCA2660995723PROCc.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
2g.127421378G>ACA348397944PROCc.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
2g.127421378G>CCA348397940PROCc.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
2g.127421378G=CA1286880856PROCc.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=)
2g.127421378G>TCA348397942PROCc.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)
2g.127421379A>CCA348397947PROCc.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)
2g.127421379A>GCA348397952PROCc.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)
2g.127421379A>TCA348397953PROCc.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)
2g.127421380G>ACA428617436PROCc.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
2g.127421380G>CCA348397955PROCc.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)
2g.127421380G=CA1286880859PROCc.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=)
2g.127421380G>TCA348397958PROCc.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)
2g.127421381C>ACA428617437PROCc.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
2g.127421381C=CA1286880865PROCc.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=)
2g.127421381C>GCA348397959PROCc.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)
2g.127421381C>TCA334388PROCc.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
2g.127421382G>ACA1859250PROCc.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
2g.127421382G>CCA348397964PROCc.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
2g.127421382G=CA1286880872PROCc.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=)
2g.127421382G>TCA55343006PROCc.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
2g.127421383G>ACA428617438PROCc.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
2g.127421383G>CCA428617439PROCc.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=)
2g.127421383G>TCA428617440PROCc.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=)
2g.127421384G>ACA348397973PROCc.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)
2g.127421384G>CCA348397975PROCc.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)
2g.127421384G>TCA348397970PROCc.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)
2g.127421385A>CCA348397982PROCc.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)
2g.127421385A>GCA348397984PROCc.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)
2g.127421385A>TCA348397987PROCc.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)
2g.127421386G>ACA428617441PROCc.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=)
2g.127421386G>CCA348397989PROCc.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)
2g.127421386G>TCA348397992PROCc.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)
2g.127421387T>ACA348398003PROCc.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)
2g.127421387T>CCA348397996PROCc.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)
2g.127421387T>GCA348397998PROCc.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)
2g.127421388G>ACA348398006PROCc.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
2g.127421388G>CCA348398008PROCc.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)
2g.127421388G>TCA348398010PROCc.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)
2g.127421389C>ACA348398013PROCc.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)
2g.127421389C=CA1286880874PROCc.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=)
2g.127421389C>GCA348398016PROCc.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)
2g.127421389C>TCA428617442PROCc.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
2g.127421390A=CA1286880876PROCc.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=)
2g.127421390A>CCA348398019PROCc.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)
2g.127421390A>GCA348398024PROCc.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
2g.127421390A>TCA348398022PROCc.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)
2g.127421391T>ACA348398027PROCc.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)
2g.127421391T>CCA1859251PROCc.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
2g.127421391T>GCA348398030PROCc.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)
2g.127421391T=CA1286880879PROCc.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=)
2g.127421392A>CCA428617444PROCc.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=)
2g.127421392A>GCA348398032PROCc.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)
2g.127421392A>TCA428617443PROCc.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=)
2g.127421392_127421395delinsAGAGCA1286880881PROCc.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=)
2g.127421393delCA2586969845PROCc.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?)
2g.127421393G>ACA348398035PROCc.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
2g.127421393G>CCA348398036PROCc.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)
2g.127421393G>TCA348398037PROCc.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)
2g.127421396_127421398delCA535638970PROCc.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
2g.127421394A>CCA348398038PROCc.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)
2g.127421394A>GCA348398039PROCc.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)
2g.127421394A>TCA348398040PROCc.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)
2g.127421395G>ACA428617445PROCc.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=)
2g.127421395G>CCA348398042PROCc.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)
2g.127421395G>TCA348398045PROCc.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)
2g.127421396G>ACA348398048PROCc.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)
2g.127421396G>CCA348398049PROCc.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)
2g.127421396G>TCA348398047PROCc.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)
2g.127421397A=CA1286880887PROCc.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=)
2g.127421397A>CCA114402PROCc.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
2g.127421397A>GCA348398051PROCc.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)
2g.127421397A>TCA348398053PROCc.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)

Number of alleles fetched