Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428354C=CA1286884426PROCc.797-3C= (n.797-3C=)
c.121-3C=
c.899-3C= (n.899-3C=)
c.980-3C= (n.980-3C=)
c.962-3C= (n.962-3C=)
c.860-3C= (n.860-3C=)
n.1332-90G=
c.1040-3C= (n.1040-3C=)
c.1142-3C= (n.1142-3C=)
c.1082-3C= (n.1082-3C=)
n.3607-90G=
n.4043-90G=
c.965-3C= (n.965-3C=)
c.983-3C= (n.983-3C=)
c.740-3C= (n.740-3C=)
c.773-3C= (n.773-3C=)
c.791-3C= (n.791-3C=)
2g.127428354C>TCA535640648PROCc.797-3C>T (n.797-3C>T)
c.121-3C>T
c.899-3C>T (n.899-3C>T)
c.980-3C>T (n.980-3C>T)
c.962-3C>T (n.962-3C>T)
c.860-3C>T (n.860-3C>T)
n.1332-90G>A
c.1040-3C>T (n.1040-3C>T)
c.1142-3C>T (n.1142-3C>T)
c.1082-3C>T (n.1082-3C>T)
n.3607-90G>A
n.4043-90G>A
c.965-3C>T (n.965-3C>T)
c.983-3C>T (n.983-3C>T)
c.740-3C>T (n.740-3C>T)
c.773-3C>T (n.773-3C>T)
c.791-3C>T (n.791-3C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.127428355A=CA1286884427PROCc.797-2A= (n.797-2A=)
c.121-2A=
c.899-2A= (n.899-2A=)
c.980-2A= (n.980-2A=)
c.962-2A= (n.962-2A=)
c.860-2A= (n.860-2A=)
n.1332-91T=
c.1040-2A= (n.1040-2A=)
c.1142-2A= (n.1142-2A=)
c.1082-2A= (n.1082-2A=)
n.3607-91T=
n.4043-91T=
c.965-2A= (n.965-2A=)
c.983-2A= (n.983-2A=)
c.740-2A= (n.740-2A=)
c.773-2A= (n.773-2A=)
c.791-2A= (n.791-2A=)
2g.127428355A>CCA348404209PROCc.797-2A>C (n.797-2A>C)
c.121-2A>C
c.899-2A>C (n.899-2A>C)
c.980-2A>C (n.980-2A>C)
c.962-2A>C (n.962-2A>C)
c.860-2A>C (n.860-2A>C)
n.1332-91T>G
c.1040-2A>C (n.1040-2A>C)
c.1142-2A>C (n.1142-2A>C)
c.1082-2A>C (n.1082-2A>C)
n.3607-91T>G
n.4043-91T>G
c.965-2A>C (n.965-2A>C)
c.983-2A>C (n.983-2A>C)
c.740-2A>C (n.740-2A>C)
c.773-2A>C (n.773-2A>C)
c.791-2A>C (n.791-2A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428355A>GCA348404210PROCc.797-2A>G (n.797-2A>G)
c.121-2A>G
c.899-2A>G (n.899-2A>G)
c.980-2A>G (n.980-2A>G)
c.962-2A>G (n.962-2A>G)
c.860-2A>G (n.860-2A>G)
n.1332-91T>C
c.1040-2A>G (n.1040-2A>G)
c.1142-2A>G (n.1142-2A>G)
c.1082-2A>G (n.1082-2A>G)
n.3607-91T>C
n.4043-91T>C
c.965-2A>G (n.965-2A>G)
c.983-2A>G (n.983-2A>G)
c.740-2A>G (n.740-2A>G)
c.773-2A>G (n.773-2A>G)
c.791-2A>G (n.791-2A>G)
 gnomAD v3 gnomAD v4
2g.127428355A>TCA348404211PROCc.797-2A>T (n.797-2A>T)
c.121-2A>T
c.899-2A>T (n.899-2A>T)
c.980-2A>T (n.980-2A>T)
c.962-2A>T (n.962-2A>T)
c.860-2A>T (n.860-2A>T)
n.1332-91T>A
c.1040-2A>T (n.1040-2A>T)
c.1142-2A>T (n.1142-2A>T)
c.1082-2A>T (n.1082-2A>T)
n.3607-91T>A
n.4043-91T>A
c.965-2A>T (n.965-2A>T)
c.983-2A>T (n.983-2A>T)
c.740-2A>T (n.740-2A>T)
c.773-2A>T (n.773-2A>T)
c.791-2A>T (n.791-2A>T)
 ClinVar dbSNP
2g.127428356G>ACA348404214PROCc.797-1G>A (n.797-1G>A)
c.121-1G>A
c.899-1G>A (n.899-1G>A)
c.980-1G>A (n.980-1G>A)
c.962-1G>A (n.962-1G>A)
c.860-1G>A (n.860-1G>A)
n.1332-92C>T
c.1040-1G>A (n.1040-1G>A)
c.1142-1G>A (n.1142-1G>A)
c.1082-1G>A (n.1082-1G>A)
n.3607-92C>T
n.4043-92C>T
c.965-1G>A (n.965-1G>A)
c.983-1G>A (n.983-1G>A)
c.740-1G>A (n.740-1G>A)
c.773-1G>A (n.773-1G>A)
c.791-1G>A (n.791-1G>A)
2g.127428356G>CCA348404213PROCc.797-1G>C (n.797-1G>C)
c.121-1G>C
c.899-1G>C (n.899-1G>C)
c.980-1G>C (n.980-1G>C)
c.962-1G>C (n.962-1G>C)
c.860-1G>C (n.860-1G>C)
n.1332-92C>G
c.1040-1G>C (n.1040-1G>C)
c.1142-1G>C (n.1142-1G>C)
c.1082-1G>C (n.1082-1G>C)
n.3607-92C>G
n.4043-92C>G
c.965-1G>C (n.965-1G>C)
c.983-1G>C (n.983-1G>C)
c.740-1G>C (n.740-1G>C)
c.773-1G>C (n.773-1G>C)
c.791-1G>C (n.791-1G>C)
2g.127428356G>TCA348404212PROCc.797-1G>T (n.797-1G>T)
c.121-1G>T
c.899-1G>T (n.899-1G>T)
c.980-1G>T (n.980-1G>T)
c.962-1G>T (n.962-1G>T)
c.860-1G>T (n.860-1G>T)
n.1332-92C>A
c.1040-1G>T (n.1040-1G>T)
c.1142-1G>T (n.1142-1G>T)
c.1082-1G>T (n.1082-1G>T)
n.3607-92C>A
n.4043-92C>A
c.965-1G>T (n.965-1G>T)
c.983-1G>T (n.983-1G>T)
c.740-1G>T (n.740-1G>T)
c.773-1G>T (n.773-1G>T)
c.791-1G>T (n.791-1G>T)
2g.127428357G>ACA348404215PROCc.797G>A (p.Gly266Glu)
c.121G>A
c.899G>A (p.Gly300Glu)
c.980G>A (p.Gly327Glu)
c.962G>A (p.Gly321Glu)
c.860G>A (p.Gly287Glu)
n.1332-93C>T
c.1040G>A (p.Gly347Glu)
c.1142G>A (p.Gly381Glu)
c.1082G>A (p.Gly361Glu)
n.3607-93C>T
n.4043-93C>T
c.965G>A (p.Gly322Glu)
c.983G>A (p.Gly328Glu)
c.740G>A (p.Gly247Glu)
c.773G>A (p.Gly258Glu)
c.791G>A (p.Gly264Glu)
 ClinVar gnomAD v4
2g.127428357G>CCA348404216PROCc.797G>C (p.Gly266Ala)
c.121G>C
c.899G>C (p.Gly300Ala)
c.980G>C (p.Gly327Ala)
c.962G>C (p.Gly321Ala)
c.860G>C (p.Gly287Ala)
n.1332-93C>G
c.1040G>C (p.Gly347Ala)
c.1142G>C (p.Gly381Ala)
c.1082G>C (p.Gly361Ala)
n.3607-93C>G
n.4043-93C>G
c.965G>C (p.Gly322Ala)
c.983G>C (p.Gly328Ala)
c.740G>C (p.Gly247Ala)
c.773G>C (p.Gly258Ala)
c.791G>C (p.Gly264Ala)
2g.127428357G>TCA348404217PROCc.797G>T (p.Gly266Val)
c.121G>T
c.899G>T (p.Gly300Val)
c.980G>T (p.Gly327Val)
c.962G>T (p.Gly321Val)
c.860G>T (p.Gly287Val)
n.1332-93C>A
c.1040G>T (p.Gly347Val)
c.1142G>T (p.Gly381Val)
c.1082G>T (p.Gly361Val)
n.3607-93C>A
n.4043-93C>A
c.965G>T (p.Gly322Val)
c.983G>T (p.Gly328Val)
c.740G>T (p.Gly247Val)
c.773G>T (p.Gly258Val)
c.791G>T (p.Gly264Val)
2g.127428358_127428361delCA2660997774PROCc.798_801del (p.Glu267MetfsTer?)
c.122_125del
c.900_903del (p.Glu301MetfsTer?)
c.981_984del (p.Glu328MetfsTer?)
c.963_966del (p.Glu322MetfsTer?)
c.861_864del (p.Glu288MetfsTer?)
n.1332-96_1332-93del
c.1041_1044del (p.Glu348MetfsTer?)
c.1143_1146del (p.Glu382MetfsTer?)
c.1083_1086del (p.Glu362MetfsTer?)
n.3607-96_3607-93del
n.4043-96_4043-93del
c.966_969del (p.Glu323MetfsTer?)
c.984_987del (p.Glu329MetfsTer?)
c.741_744del (p.Glu248MetfsTer?)
c.774_777del (p.Glu259MetfsTer?)
c.792_795del (p.Glu265MetfsTer?)
 gnomAD v4
2g.127428358A>CCA428618840PROCc.798A>C (p.Gly266=)
c.122A>C
c.900A>C (p.Gly300=)
c.981A>C (p.Gly327=)
c.963A>C (p.Gly321=)
c.861A>C (p.Gly287=)
n.1332-94T>G
c.1041A>C (p.Gly347=)
c.1143A>C (p.Gly381=)
c.1083A>C (p.Gly361=)
n.3607-94T>G
n.4043-94T>G
c.966A>C (p.Gly322=)
c.984A>C (p.Gly328=)
c.741A>C (p.Gly247=)
c.774A>C (p.Gly258=)
c.792A>C (p.Gly264=)
2g.127428358A>GCA428618841PROCc.798A>G (p.Gly266=)
c.122A>G
c.900A>G (p.Gly300=)
c.981A>G (p.Gly327=)
c.963A>G (p.Gly321=)
c.861A>G (p.Gly287=)
n.1332-94T>C
c.1041A>G (p.Gly347=)
c.1143A>G (p.Gly381=)
c.1083A>G (p.Gly361=)
n.3607-94T>C
n.4043-94T>C
c.966A>G (p.Gly322=)
c.984A>G (p.Gly328=)
c.741A>G (p.Gly247=)
c.774A>G (p.Gly258=)
c.792A>G (p.Gly264=)
2g.127428358A>TCA428618842PROCc.798A>T (p.Gly266=)
c.122A>T
c.900A>T (p.Gly300=)
c.981A>T (p.Gly327=)
c.963A>T (p.Gly321=)
c.861A>T (p.Gly287=)
n.1332-94T>A
c.1041A>T (p.Gly347=)
c.1143A>T (p.Gly381=)
c.1083A>T (p.Gly361=)
n.3607-94T>A
n.4043-94T>A
c.966A>T (p.Gly322=)
c.984A>T (p.Gly328=)
c.741A>T (p.Gly247=)
c.774A>T (p.Gly258=)
c.792A>T (p.Gly264=)
2g.127428359G>ACA348404218PROCc.799G>A (p.Glu267Lys)
c.123G>A
c.901G>A (p.Glu301Lys)
c.982G>A (p.Glu328Lys)
c.964G>A (p.Glu322Lys)
c.862G>A (p.Glu288Lys)
n.1332-95C>T
c.1042G>A (p.Glu348Lys)
c.1144G>A (p.Glu382Lys)
c.1084G>A (p.Glu362Lys)
n.3607-95C>T
n.4043-95C>T
c.967G>A (p.Glu323Lys)
c.985G>A (p.Glu329Lys)
c.742G>A (p.Glu248Lys)
c.775G>A (p.Glu259Lys)
c.793G>A (p.Glu265Lys)
 ClinVar dbSNP
2g.127428359G>CCA348404219PROCc.799G>C (p.Glu267Gln)
c.123G>C
c.901G>C (p.Glu301Gln)
c.982G>C (p.Glu328Gln)
c.964G>C (p.Glu322Gln)
c.862G>C (p.Glu288Gln)
n.1332-95C>G
c.1042G>C (p.Glu348Gln)
c.1144G>C (p.Glu382Gln)
c.1084G>C (p.Glu362Gln)
n.3607-95C>G
n.4043-95C>G
c.967G>C (p.Glu323Gln)
c.985G>C (p.Glu329Gln)
c.742G>C (p.Glu248Gln)
c.775G>C (p.Glu259Gln)
c.793G>C (p.Glu265Gln)
 gnomAD v4
2g.127428359G=CA1286884428PROCc.799G= (p.Glu267=)
c.123G=
c.901G= (p.Glu301=)
c.982G= (p.Glu328=)
c.964G= (p.Glu322=)
c.862G= (p.Glu288=)
n.1332-95C=
c.1042G= (p.Glu348=)
c.1144G= (p.Glu382=)
c.1084G= (p.Glu362=)
n.3607-95C=
n.4043-95C=
c.967G= (p.Glu323=)
c.985G= (p.Glu329=)
c.742G= (p.Glu248=)
c.775G= (p.Glu259=)
c.793G= (p.Glu265=)
2g.127428359G>TCA348404220PROCc.799G>T (p.Glu267Ter)
c.123G>T
c.901G>T (p.Glu301Ter)
c.982G>T (p.Glu328Ter)
c.964G>T (p.Glu322Ter)
c.862G>T (p.Glu288Ter)
n.1332-95C>A
c.1042G>T (p.Glu348Ter)
c.1144G>T (p.Glu382Ter)
c.1084G>T (p.Glu362Ter)
n.3607-95C>A
n.4043-95C>A
c.967G>T (p.Glu323Ter)
c.985G>T (p.Glu329Ter)
c.742G>T (p.Glu248Ter)
c.775G>T (p.Glu259Ter)
c.793G>T (p.Glu265Ter)
2g.127428360A>CCA348404223PROCc.800A>C (p.Glu267Ala)
c.124A>C
c.902A>C (p.Glu301Ala)
c.983A>C (p.Glu328Ala)
c.965A>C (p.Glu322Ala)
c.863A>C (p.Glu288Ala)
n.1332-96T>G
c.1043A>C (p.Glu348Ala)
c.1145A>C (p.Glu382Ala)
c.1085A>C (p.Glu362Ala)
n.3607-96T>G
n.4043-96T>G
c.968A>C (p.Glu323Ala)
c.986A>C (p.Glu329Ala)
c.743A>C (p.Glu248Ala)
c.776A>C (p.Glu259Ala)
c.794A>C (p.Glu265Ala)
2g.127428360A>GCA348404221PROCc.800A>G (p.Glu267Gly)
c.124A>G
c.902A>G (p.Glu301Gly)
c.983A>G (p.Glu328Gly)
c.965A>G (p.Glu322Gly)
c.863A>G (p.Glu288Gly)
n.1332-96T>C
c.1043A>G (p.Glu348Gly)
c.1145A>G (p.Glu382Gly)
c.1085A>G (p.Glu362Gly)
n.3607-96T>C
n.4043-96T>C
c.968A>G (p.Glu323Gly)
c.986A>G (p.Glu329Gly)
c.743A>G (p.Glu248Gly)
c.776A>G (p.Glu259Gly)
c.794A>G (p.Glu265Gly)
2g.127428360A>TCA348404222PROCc.800A>T (p.Glu267Val)
c.124A>T
c.902A>T (p.Glu301Val)
c.983A>T (p.Glu328Val)
c.965A>T (p.Glu322Val)
c.863A>T (p.Glu288Val)
n.1332-96T>A
c.1043A>T (p.Glu348Val)
c.1145A>T (p.Glu382Val)
c.1085A>T (p.Glu362Val)
n.3607-96T>A
n.4043-96T>A
c.968A>T (p.Glu323Val)
c.986A>T (p.Glu329Val)
c.743A>T (p.Glu248Val)
c.776A>T (p.Glu259Val)
c.794A>T (p.Glu265Val)
2g.127428361G>ACA428618845PROCc.801G>A (p.Glu267=)
c.125G>A
c.903G>A (p.Glu301=)
c.984G>A (p.Glu328=)
c.966G>A (p.Glu322=)
c.864G>A (p.Glu288=)
n.1332-97C>T
c.1044G>A (p.Glu348=)
c.1146G>A (p.Glu382=)
c.1086G>A (p.Glu362=)
n.3607-97C>T
n.4043-97C>T
c.969G>A (p.Glu323=)
c.987G>A (p.Glu329=)
c.744G>A (p.Glu248=)
c.777G>A (p.Glu259=)
c.795G>A (p.Glu265=)
2g.127428361G>CCA348404224PROCc.801G>C (p.Glu267Asp)
c.125G>C
c.903G>C (p.Glu301Asp)
c.984G>C (p.Glu328Asp)
c.966G>C (p.Glu322Asp)
c.864G>C (p.Glu288Asp)
n.1332-97C>G
c.1044G>C (p.Glu348Asp)
c.1146G>C (p.Glu382Asp)
c.1086G>C (p.Glu362Asp)
n.3607-97C>G
n.4043-97C>G
c.969G>C (p.Glu323Asp)
c.987G>C (p.Glu329Asp)
c.744G>C (p.Glu248Asp)
c.777G>C (p.Glu259Asp)
c.795G>C (p.Glu265Asp)
 gnomAD v4
2g.127428361G>TCA348404225PROCc.801G>T (p.Glu267Asp)
c.125G>T
c.903G>T (p.Glu301Asp)
c.984G>T (p.Glu328Asp)
c.966G>T (p.Glu322Asp)
c.864G>T (p.Glu288Asp)
n.1332-97C>A
c.1044G>T (p.Glu348Asp)
c.1146G>T (p.Glu382Asp)
c.1086G>T (p.Glu362Asp)
n.3607-97C>A
n.4043-97C>A
c.969G>T (p.Glu323Asp)
c.987G>T (p.Glu329Asp)
c.744G>T (p.Glu248Asp)
c.777G>T (p.Glu259Asp)
c.795G>T (p.Glu265Asp)
2g.127428362delCA2660997775PROCc.802del (p.Tyr268MetfsTer?)
c.126del
c.904del (p.Tyr302MetfsTer?)
c.985del (p.Tyr329MetfsTer?)
c.967del (p.Tyr323MetfsTer?)
c.865del (p.Tyr289MetfsTer?)
n.1332-98del
c.1045del (p.Tyr349MetfsTer?)
c.1147del (p.Tyr383MetfsTer?)
c.1087del (p.Tyr363MetfsTer?)
n.3607-98del
n.4043-98del
c.970del (p.Tyr324MetfsTer?)
c.988del (p.Tyr330MetfsTer?)
c.745del (p.Tyr249MetfsTer?)
c.778del (p.Tyr260MetfsTer?)
c.796del (p.Tyr266MetfsTer?)
 gnomAD v4
2g.127428362T>ACA348404226PROCc.802T>A (p.Tyr268Asn)
c.126T>A
c.904T>A (p.Tyr302Asn)
c.985T>A (p.Tyr329Asn)
c.967T>A (p.Tyr323Asn)
c.865T>A (p.Tyr289Asn)
n.1332-98A>T
c.1045T>A (p.Tyr349Asn)
c.1147T>A (p.Tyr383Asn)
c.1087T>A (p.Tyr363Asn)
n.3607-98A>T
n.4043-98A>T
c.970T>A (p.Tyr324Asn)
c.988T>A (p.Tyr330Asn)
c.745T>A (p.Tyr249Asn)
c.778T>A (p.Tyr260Asn)
c.796T>A (p.Tyr266Asn)
2g.127428362T>CCA348404227PROCc.802T>C (p.Tyr268His)
c.126T>C
c.904T>C (p.Tyr302His)
c.985T>C (p.Tyr329His)
c.967T>C (p.Tyr323His)
c.865T>C (p.Tyr289His)
n.1332-98A>G
c.1045T>C (p.Tyr349His)
c.1147T>C (p.Tyr383His)
c.1087T>C (p.Tyr363His)
n.3607-98A>G
n.4043-98A>G
c.970T>C (p.Tyr324His)
c.988T>C (p.Tyr330His)
c.745T>C (p.Tyr249His)
c.778T>C (p.Tyr260His)
c.796T>C (p.Tyr266His)
2g.127428362T>GCA348404230PROCc.802T>G (p.Tyr268Asp)
c.126T>G
c.904T>G (p.Tyr302Asp)
c.985T>G (p.Tyr329Asp)
c.967T>G (p.Tyr323Asp)
c.865T>G (p.Tyr289Asp)
n.1332-98A>C
c.1045T>G (p.Tyr349Asp)
c.1147T>G (p.Tyr383Asp)
c.1087T>G (p.Tyr363Asp)
n.3607-98A>C
n.4043-98A>C
c.970T>G (p.Tyr324Asp)
c.988T>G (p.Tyr330Asp)
c.745T>G (p.Tyr249Asp)
c.778T>G (p.Tyr260Asp)
c.796T>G (p.Tyr266Asp)
2g.127428363A>CCA348404232PROCc.803A>C (p.Tyr268Ser)
c.127A>C
c.905A>C (p.Tyr302Ser)
c.986A>C (p.Tyr329Ser)
c.968A>C (p.Tyr323Ser)
c.866A>C (p.Tyr289Ser)
n.1332-99T>G
c.1046A>C (p.Tyr349Ser)
c.1148A>C (p.Tyr383Ser)
c.1088A>C (p.Tyr363Ser)
n.3607-99T>G
n.4043-99T>G
c.971A>C (p.Tyr324Ser)
c.989A>C (p.Tyr330Ser)
c.746A>C (p.Tyr249Ser)
c.779A>C (p.Tyr260Ser)
c.797A>C (p.Tyr266Ser)
2g.127428363A>GCA348404234PROCc.803A>G (p.Tyr268Cys)
c.127A>G
c.905A>G (p.Tyr302Cys)
c.986A>G (p.Tyr329Cys)
c.968A>G (p.Tyr323Cys)
c.866A>G (p.Tyr289Cys)
n.1332-99T>C
c.1046A>G (p.Tyr349Cys)
c.1148A>G (p.Tyr383Cys)
c.1088A>G (p.Tyr363Cys)
n.3607-99T>C
n.4043-99T>C
c.971A>G (p.Tyr324Cys)
c.989A>G (p.Tyr330Cys)
c.746A>G (p.Tyr249Cys)
c.779A>G (p.Tyr260Cys)
c.797A>G (p.Tyr266Cys)
2g.127428363A>TCA348404236PROCc.803A>T (p.Tyr268Phe)
c.127A>T
c.905A>T (p.Tyr302Phe)
c.986A>T (p.Tyr329Phe)
c.968A>T (p.Tyr323Phe)
c.866A>T (p.Tyr289Phe)
n.1332-99T>A
c.1046A>T (p.Tyr349Phe)
c.1148A>T (p.Tyr383Phe)
c.1088A>T (p.Tyr363Phe)
n.3607-99T>A
n.4043-99T>A
c.971A>T (p.Tyr324Phe)
c.989A>T (p.Tyr330Phe)
c.746A>T (p.Tyr249Phe)
c.779A>T (p.Tyr260Phe)
c.797A>T (p.Tyr266Phe)
2g.127428364T>ACA348404238PROCc.804T>A (p.Tyr268Ter)
c.128T>A
c.906T>A (p.Tyr302Ter)
c.987T>A (p.Tyr329Ter)
c.969T>A (p.Tyr323Ter)
c.867T>A (p.Tyr289Ter)
n.1332-100A>T
c.1047T>A (p.Tyr349Ter)
c.1149T>A (p.Tyr383Ter)
c.1089T>A (p.Tyr363Ter)
n.3607-100A>T
n.4043-100A>T
c.972T>A (p.Tyr324Ter)
c.990T>A (p.Tyr330Ter)
c.747T>A (p.Tyr249Ter)
c.780T>A (p.Tyr260Ter)
c.798T>A (p.Tyr266Ter)
2g.127428364T>CCA428618846PROCc.804T>C (p.Tyr268=)
c.128T>C
c.906T>C (p.Tyr302=)
c.987T>C (p.Tyr329=)
c.969T>C (p.Tyr323=)
c.867T>C (p.Tyr289=)
n.1332-100A>G
c.1047T>C (p.Tyr349=)
c.1149T>C (p.Tyr383=)
c.1089T>C (p.Tyr363=)
n.3607-100A>G
n.4043-100A>G
c.972T>C (p.Tyr324=)
c.990T>C (p.Tyr330=)
c.747T>C (p.Tyr249=)
c.780T>C (p.Tyr260=)
c.798T>C (p.Tyr266=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428364T>GCA348404240PROCc.804T>G (p.Tyr268Ter)
c.128T>G
c.906T>G (p.Tyr302Ter)
c.987T>G (p.Tyr329Ter)
c.969T>G (p.Tyr323Ter)
c.867T>G (p.Tyr289Ter)
n.1332-100A>C
c.1047T>G (p.Tyr349Ter)
c.1149T>G (p.Tyr383Ter)
c.1089T>G (p.Tyr363Ter)
n.3607-100A>C
n.4043-100A>C
c.972T>G (p.Tyr324Ter)
c.990T>G (p.Tyr330Ter)
c.747T>G (p.Tyr249Ter)
c.780T>G (p.Tyr260Ter)
c.798T>G (p.Tyr266Ter)
2g.127428364T=CA1286884429PROCc.804T= (p.Tyr268=)
c.128T=
c.906T= (p.Tyr302=)
c.987T= (p.Tyr329=)
c.969T= (p.Tyr323=)
c.867T= (p.Tyr289=)
n.1332-100A=
c.1047T= (p.Tyr349=)
c.1149T= (p.Tyr383=)
c.1089T= (p.Tyr363=)
n.3607-100A=
n.4043-100A=
c.972T= (p.Tyr324=)
c.990T= (p.Tyr330=)
c.747T= (p.Tyr249=)
c.780T= (p.Tyr260=)
c.798T= (p.Tyr266=)
2g.127428365G>ACA348404242PROCc.805G>A (p.Asp269Asn)
c.129G>A
c.907G>A (p.Asp303Asn)
c.988G>A (p.Asp330Asn)
c.970G>A (p.Asp324Asn)
c.868G>A (p.Asp290Asn)
n.1332-101C>T
c.1048G>A (p.Asp350Asn)
c.1150G>A (p.Asp384Asn)
c.1090G>A (p.Asp364Asn)
n.3607-101C>T
n.4043-101C>T
c.973G>A (p.Asp325Asn)
c.991G>A (p.Asp331Asn)
c.748G>A (p.Asp250Asn)
c.781G>A (p.Asp261Asn)
c.799G>A (p.Asp267Asn)
 COSMIC COSMIC
2g.127428365G>CCA348404244PROCc.805G>C (p.Asp269His)
c.129G>C
c.907G>C (p.Asp303His)
c.988G>C (p.Asp330His)
c.970G>C (p.Asp324His)
c.868G>C (p.Asp290His)
n.1332-101C>G
c.1048G>C (p.Asp350His)
c.1150G>C (p.Asp384His)
c.1090G>C (p.Asp364His)
n.3607-101C>G
n.4043-101C>G
c.973G>C (p.Asp325His)
c.991G>C (p.Asp331His)
c.748G>C (p.Asp250His)
c.781G>C (p.Asp261His)
c.799G>C (p.Asp267His)
 ClinVar dbSNP
2g.127428365G=CA1286884430PROCc.805G= (p.Asp269=)
c.129G=
c.907G= (p.Asp303=)
c.988G= (p.Asp330=)
c.970G= (p.Asp324=)
c.868G= (p.Asp290=)
n.1332-101C=
c.1048G= (p.Asp350=)
c.1150G= (p.Asp384=)
c.1090G= (p.Asp364=)
n.3607-101C=
n.4043-101C=
c.973G= (p.Asp325=)
c.991G= (p.Asp331=)
c.748G= (p.Asp250=)
c.781G= (p.Asp261=)
c.799G= (p.Asp267=)
2g.127428365G>TCA348404245PROCc.805G>T (p.Asp269Tyr)
c.129G>T
c.907G>T (p.Asp303Tyr)
c.988G>T (p.Asp330Tyr)
c.970G>T (p.Asp324Tyr)
c.868G>T (p.Asp290Tyr)
n.1332-101C>A
c.1048G>T (p.Asp350Tyr)
c.1150G>T (p.Asp384Tyr)
c.1090G>T (p.Asp364Tyr)
n.3607-101C>A
n.4043-101C>A
c.973G>T (p.Asp325Tyr)
c.991G>T (p.Asp331Tyr)
c.748G>T (p.Asp250Tyr)
c.781G>T (p.Asp261Tyr)
c.799G>T (p.Asp267Tyr)
 gnomAD v4
2g.127428366A>CCA348404248PROCc.806A>C (p.Asp269Ala)
c.130A>C
c.908A>C (p.Asp303Ala)
c.989A>C (p.Asp330Ala)
c.971A>C (p.Asp324Ala)
c.869A>C (p.Asp290Ala)
n.1332-102T>G
c.1049A>C (p.Asp350Ala)
c.1151A>C (p.Asp384Ala)
c.1091A>C (p.Asp364Ala)
n.3607-102T>G
n.4043-102T>G
c.974A>C (p.Asp325Ala)
c.992A>C (p.Asp331Ala)
c.749A>C (p.Asp250Ala)
c.782A>C (p.Asp261Ala)
c.800A>C (p.Asp267Ala)
2g.127428366A>GCA348404251PROCc.806A>G (p.Asp269Gly)
c.130A>G
c.908A>G (p.Asp303Gly)
c.989A>G (p.Asp330Gly)
c.971A>G (p.Asp324Gly)
c.869A>G (p.Asp290Gly)
n.1332-102T>C
c.1049A>G (p.Asp350Gly)
c.1151A>G (p.Asp384Gly)
c.1091A>G (p.Asp364Gly)
n.3607-102T>C
n.4043-102T>C
c.974A>G (p.Asp325Gly)
c.992A>G (p.Asp331Gly)
c.749A>G (p.Asp250Gly)
c.782A>G (p.Asp261Gly)
c.800A>G (p.Asp267Gly)
2g.127428366A>TCA348404250PROCc.806A>T (p.Asp269Val)
c.130A>T
c.908A>T (p.Asp303Val)
c.989A>T (p.Asp330Val)
c.971A>T (p.Asp324Val)
c.869A>T (p.Asp290Val)
n.1332-102T>A
c.1049A>T (p.Asp350Val)
c.1151A>T (p.Asp384Val)
c.1091A>T (p.Asp364Val)
n.3607-102T>A
n.4043-102T>A
c.974A>T (p.Asp325Val)
c.992A>T (p.Asp331Val)
c.749A>T (p.Asp250Val)
c.782A>T (p.Asp261Val)
c.800A>T (p.Asp267Val)
2g.127428367C>ACA348404253PROCc.807C>A (p.Asp269Glu)
c.131C>A
c.909C>A (p.Asp303Glu)
c.990C>A (p.Asp330Glu)
c.972C>A (p.Asp324Glu)
c.870C>A (p.Asp290Glu)
n.1332-103G>T
c.1050C>A (p.Asp350Glu)
c.1152C>A (p.Asp384Glu)
c.1092C>A (p.Asp364Glu)
n.3607-103G>T
n.4043-103G>T
c.975C>A (p.Asp325Glu)
c.993C>A (p.Asp331Glu)
c.750C>A (p.Asp250Glu)
c.783C>A (p.Asp261Glu)
c.801C>A (p.Asp267Glu)
 gnomAD v4
2g.127428367C=CA1286884431PROCc.807C= (p.Asp269=)
c.131C=
c.909C= (p.Asp303=)
c.990C= (p.Asp330=)
c.972C= (p.Asp324=)
c.870C= (p.Asp290=)
n.1332-103G=
c.1050C= (p.Asp350=)
c.1152C= (p.Asp384=)
c.1092C= (p.Asp364=)
n.3607-103G=
n.4043-103G=
c.975C= (p.Asp325=)
c.993C= (p.Asp331=)
c.750C= (p.Asp250=)
c.783C= (p.Asp261=)
c.801C= (p.Asp267=)
2g.127428367C>GCA348404254PROCc.807C>G (p.Asp269Glu)
c.131C>G
c.909C>G (p.Asp303Glu)
c.990C>G (p.Asp330Glu)
c.972C>G (p.Asp324Glu)
c.870C>G (p.Asp290Glu)
n.1332-103G>C
c.1050C>G (p.Asp350Glu)
c.1152C>G (p.Asp384Glu)
c.1092C>G (p.Asp364Glu)
n.3607-103G>C
n.4043-103G>C
c.975C>G (p.Asp325Glu)
c.993C>G (p.Asp331Glu)
c.750C>G (p.Asp250Glu)
c.783C>G (p.Asp261Glu)
c.801C>G (p.Asp267Glu)
2g.127428367C>TCA1859461PROCc.807C>T (p.Asp269=)
c.131C>T
c.909C>T (p.Asp303=)
c.990C>T (p.Asp330=)
c.972C>T (p.Asp324=)
c.870C>T (p.Asp290=)
n.1332-103G>A
c.1050C>T (p.Asp350=)
c.1152C>T (p.Asp384=)
c.1092C>T (p.Asp364=)
n.3607-103G>A
n.4043-103G>A
c.975C>T (p.Asp325=)
c.993C>T (p.Asp331=)
c.750C>T (p.Asp250=)
c.783C>T (p.Asp261=)
c.801C>T (p.Asp267=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428368C>ACA348404255PROCc.808C>A (p.Leu270Met)
c.132C>A
c.910C>A (p.Leu304Met)
c.991C>A (p.Leu331Met)
c.973C>A (p.Leu325Met)
c.871C>A (p.Leu291Met)
n.1332-104G>T
c.1051C>A (p.Leu351Met)
c.1153C>A (p.Leu385Met)
c.1093C>A (p.Leu365Met)
n.3607-104G>T
n.4043-104G>T
c.976C>A (p.Leu326Met)
c.994C>A (p.Leu332Met)
c.751C>A (p.Leu251Met)
c.784C>A (p.Leu262Met)
c.802C>A (p.Leu268Met)
2g.127428368C=CA1286884432PROCc.808C= (p.Leu270=)
c.132C=
c.910C= (p.Leu304=)
c.991C= (p.Leu331=)
c.973C= (p.Leu325=)
c.871C= (p.Leu291=)
n.1332-104G=
c.1051C= (p.Leu351=)
c.1153C= (p.Leu385=)
c.1093C= (p.Leu365=)
n.3607-104G=
n.4043-104G=
c.976C= (p.Leu326=)
c.994C= (p.Leu332=)
c.751C= (p.Leu251=)
c.784C= (p.Leu262=)
c.802C= (p.Leu268=)
2g.127428368C>GCA348404256PROCc.808C>G (p.Leu270Val)
c.132C>G
c.910C>G (p.Leu304Val)
c.991C>G (p.Leu331Val)
c.973C>G (p.Leu325Val)
c.871C>G (p.Leu291Val)
n.1332-104G>C
c.1051C>G (p.Leu351Val)
c.1153C>G (p.Leu385Val)
c.1093C>G (p.Leu365Val)
n.3607-104G>C
n.4043-104G>C
c.976C>G (p.Leu326Val)
c.994C>G (p.Leu332Val)
c.751C>G (p.Leu251Val)
c.784C>G (p.Leu262Val)
c.802C>G (p.Leu268Val)
2g.127428368C>TCA428618851PROCc.808C>T (p.Leu270=)
c.132C>T
c.910C>T (p.Leu304=)
c.991C>T (p.Leu331=)
c.973C>T (p.Leu325=)
c.871C>T (p.Leu291=)
n.1332-104G>A
c.1051C>T (p.Leu351=)
c.1153C>T (p.Leu385=)
c.1093C>T (p.Leu365=)
n.3607-104G>A
n.4043-104G>A
c.976C>T (p.Leu326=)
c.994C>T (p.Leu332=)
c.751C>T (p.Leu251=)
c.784C>T (p.Leu262=)
c.802C>T (p.Leu268=)
 dbSNP
2g.127428369_127428374delCA2577090324PROCc.809_814del (p.Leu270_Arg271del)
c.133_138del
c.911_916del (p.Leu304_Arg305del)
c.992_997del (p.Leu331_Arg332del)
c.974_979del (p.Leu325_Arg326del)
c.872_877del (p.Leu291_Arg292del)
n.1332-109_1332-104del
c.1052_1057del (p.Leu351_Arg352del)
c.1154_1159del (p.Leu385_Arg386del)
c.1094_1099del (p.Leu365_Arg366del)
n.3607-109_3607-104del
n.4043-109_4043-104del
c.977_982del (p.Leu326_Arg327del)
c.995_1000del (p.Leu332_Arg333del)
c.752_757del (p.Leu251_Arg252del)
c.785_790del (p.Leu262_Arg263del)
c.803_808del (p.Leu268_Arg269del)
2g.127428369T>ACA348404258PROCc.809T>A (p.Leu270Gln)
c.133T>A
c.911T>A (p.Leu304Gln)
c.992T>A (p.Leu331Gln)
c.974T>A (p.Leu325Gln)
c.872T>A (p.Leu291Gln)
n.1332-105A>T
c.1052T>A (p.Leu351Gln)
c.1154T>A (p.Leu385Gln)
c.1094T>A (p.Leu365Gln)
n.3607-105A>T
n.4043-105A>T
c.977T>A (p.Leu326Gln)
c.995T>A (p.Leu332Gln)
c.752T>A (p.Leu251Gln)
c.785T>A (p.Leu262Gln)
c.803T>A (p.Leu268Gln)
2g.127428369T>CCA348404260PROCc.809T>C (p.Leu270Pro)
c.133T>C
c.911T>C (p.Leu304Pro)
c.992T>C (p.Leu331Pro)
c.974T>C (p.Leu325Pro)
c.872T>C (p.Leu291Pro)
n.1332-105A>G
c.1052T>C (p.Leu351Pro)
c.1154T>C (p.Leu385Pro)
c.1094T>C (p.Leu365Pro)
n.3607-105A>G
n.4043-105A>G
c.977T>C (p.Leu326Pro)
c.995T>C (p.Leu332Pro)
c.752T>C (p.Leu251Pro)
c.785T>C (p.Leu262Pro)
c.803T>C (p.Leu268Pro)
2g.127428369T>GCA348404262PROCc.809T>G (p.Leu270Arg)
c.133T>G
c.911T>G (p.Leu304Arg)
c.992T>G (p.Leu331Arg)
c.974T>G (p.Leu325Arg)
c.872T>G (p.Leu291Arg)
n.1332-105A>C
c.1052T>G (p.Leu351Arg)
c.1154T>G (p.Leu385Arg)
c.1094T>G (p.Leu365Arg)
n.3607-105A>C
n.4043-105A>C
c.977T>G (p.Leu326Arg)
c.995T>G (p.Leu332Arg)
c.752T>G (p.Leu251Arg)
c.785T>G (p.Leu262Arg)
c.803T>G (p.Leu268Arg)
2g.127428370G>ACA1859463PROCc.810G>A (p.Leu270=)
c.134G>A
c.912G>A (p.Leu304=)
c.993G>A (p.Leu331=)
c.975G>A (p.Leu325=)
c.873G>A (p.Leu291=)
n.1332-106C>T
c.1053G>A (p.Leu351=)
c.1155G>A (p.Leu385=)
c.1095G>A (p.Leu365=)
n.3607-106C>T
n.4043-106C>T
c.978G>A (p.Leu326=)
c.996G>A (p.Leu332=)
c.753G>A (p.Leu251=)
c.786G>A (p.Leu262=)
c.804G>A (p.Leu268=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428370G>CCA1859462PROCc.810G>C (p.Leu270=)
c.134G>C
c.912G>C (p.Leu304=)
c.993G>C (p.Leu331=)
c.975G>C (p.Leu325=)
c.873G>C (p.Leu291=)
n.1332-106C>G
c.1053G>C (p.Leu351=)
c.1155G>C (p.Leu385=)
c.1095G>C (p.Leu365=)
n.3607-106C>G
n.4043-106C>G
c.978G>C (p.Leu326=)
c.996G>C (p.Leu332=)
c.753G>C (p.Leu251=)
c.786G>C (p.Leu262=)
c.804G>C (p.Leu268=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428370G=CA1286884433PROCc.810G= (p.Leu270=)
c.134G=
c.912G= (p.Leu304=)
c.993G= (p.Leu331=)
c.975G= (p.Leu325=)
c.873G= (p.Leu291=)
n.1332-106C=
c.1053G= (p.Leu351=)
c.1155G= (p.Leu385=)
c.1095G= (p.Leu365=)
n.3607-106C=
n.4043-106C=
c.978G= (p.Leu326=)
c.996G= (p.Leu332=)
c.753G= (p.Leu251=)
c.786G= (p.Leu262=)
c.804G= (p.Leu268=)
2g.127428370G>TCA428618854PROCc.810G>T (p.Leu270=)
c.134G>T
c.912G>T (p.Leu304=)
c.993G>T (p.Leu331=)
c.975G>T (p.Leu325=)
c.873G>T (p.Leu291=)
n.1332-106C>A
c.1053G>T (p.Leu351=)
c.1155G>T (p.Leu385=)
c.1095G>T (p.Leu365=)
n.3607-106C>A
n.4043-106C>A
c.978G>T (p.Leu326=)
c.996G>T (p.Leu332=)
c.753G>T (p.Leu251=)
c.786G>T (p.Leu262=)
c.804G>T (p.Leu268=)
2g.127428371C>ACA428618855PROCc.811C>A (p.Arg271=)
c.135C>A
c.913C>A (p.Arg305=)
c.994C>A (p.Arg332=)
c.976C>A (p.Arg326=)
c.874C>A (p.Arg292=)
n.1332-107G>T
c.1054C>A (p.Arg352=)
c.1156C>A (p.Arg386=)
c.1096C>A (p.Arg366=)
n.3607-107G>T
n.4043-107G>T
c.979C>A (p.Arg327=)
c.997C>A (p.Arg333=)
c.754C>A (p.Arg252=)
c.787C>A (p.Arg263=)
c.805C>A (p.Arg269=)
 dbSNP gnomAD v4
2g.127428371C=CA1286884434PROCc.811C= (p.Arg271=)
c.135C=
c.913C= (p.Arg305=)
c.994C= (p.Arg332=)
c.976C= (p.Arg326=)
c.874C= (p.Arg292=)
n.1332-107G=
c.1054C= (p.Arg352=)
c.1156C= (p.Arg386=)
c.1096C= (p.Arg366=)
n.3607-107G=
n.4043-107G=
c.979C= (p.Arg327=)
c.997C= (p.Arg333=)
c.754C= (p.Arg252=)
c.787C= (p.Arg263=)
c.805C= (p.Arg269=)
2g.127428371C>GCA348404266PROCc.811C>G (p.Arg271Gly)
c.135C>G
c.913C>G (p.Arg305Gly)
c.994C>G (p.Arg332Gly)
c.976C>G (p.Arg326Gly)
c.874C>G (p.Arg292Gly)
n.1332-107G>C
c.1054C>G (p.Arg352Gly)
c.1156C>G (p.Arg386Gly)
c.1096C>G (p.Arg366Gly)
n.3607-107G>C
n.4043-107G>C
c.979C>G (p.Arg327Gly)
c.997C>G (p.Arg333Gly)
c.754C>G (p.Arg252Gly)
c.787C>G (p.Arg263Gly)
c.805C>G (p.Arg269Gly)
2g.127428371C>TCA1859464PROCc.811C>T (p.Arg271Trp)
c.135C>T
c.913C>T (p.Arg305Trp)
c.994C>T (p.Arg332Trp)
c.976C>T (p.Arg326Trp)
c.874C>T (p.Arg292Trp)
n.1332-107G>A
c.1054C>T (p.Arg352Trp)
c.1156C>T (p.Arg386Trp)
c.1096C>T (p.Arg366Trp)
n.3607-107G>A
n.4043-107G>A
c.979C>T (p.Arg327Trp)
c.997C>T (p.Arg333Trp)
c.754C>T (p.Arg252Trp)
c.787C>T (p.Arg263Trp)
c.805C>T (p.Arg269Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428372G>ACA348404273PROCc.812G>A (p.Arg271Gln)
c.136G>A
c.914G>A (p.Arg305Gln)
c.995G>A (p.Arg332Gln)
c.977G>A (p.Arg326Gln)
c.875G>A (p.Arg292Gln)
n.1332-108C>T
c.1055G>A (p.Arg352Gln)
c.1157G>A (p.Arg386Gln)
c.1097G>A (p.Arg366Gln)
n.3607-108C>T
n.4043-108C>T
c.980G>A (p.Arg327Gln)
c.998G>A (p.Arg333Gln)
c.755G>A (p.Arg252Gln)
c.788G>A (p.Arg263Gln)
c.806G>A (p.Arg269Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428372G>CCA348404271PROCc.812G>C (p.Arg271Pro)
c.136G>C
c.914G>C (p.Arg305Pro)
c.995G>C (p.Arg332Pro)
c.977G>C (p.Arg326Pro)
c.875G>C (p.Arg292Pro)
n.1332-108C>G
c.1055G>C (p.Arg352Pro)
c.1157G>C (p.Arg386Pro)
c.1097G>C (p.Arg366Pro)
n.3607-108C>G
n.4043-108C>G
c.980G>C (p.Arg327Pro)
c.998G>C (p.Arg333Pro)
c.755G>C (p.Arg252Pro)
c.788G>C (p.Arg263Pro)
c.806G>C (p.Arg269Pro)
2g.127428372G=CA1286884435PROCc.812G= (p.Arg271=)
c.136G=
c.914G= (p.Arg305=)
c.995G= (p.Arg332=)
c.977G= (p.Arg326=)
c.875G= (p.Arg292=)
n.1332-108C=
c.1055G= (p.Arg352=)
c.1157G= (p.Arg386=)
c.1097G= (p.Arg366=)
n.3607-108C=
n.4043-108C=
c.980G= (p.Arg327=)
c.998G= (p.Arg333=)
c.755G= (p.Arg252=)
c.788G= (p.Arg263=)
c.806G= (p.Arg269=)
2g.127428372G>TCA1859465PROCc.812G>T (p.Arg271Leu)
c.136G>T
c.914G>T (p.Arg305Leu)
c.995G>T (p.Arg332Leu)
c.977G>T (p.Arg326Leu)
c.875G>T (p.Arg292Leu)
n.1332-108C>A
c.1055G>T (p.Arg352Leu)
c.1157G>T (p.Arg386Leu)
c.1097G>T (p.Arg366Leu)
n.3607-108C>A
n.4043-108C>A
c.980G>T (p.Arg327Leu)
c.998G>T (p.Arg333Leu)
c.755G>T (p.Arg252Leu)
c.788G>T (p.Arg263Leu)
c.806G>T (p.Arg269Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428373G>ACA428618859PROCc.813G>A (p.Arg271=)
c.137G>A
c.915G>A (p.Arg305=)
c.996G>A (p.Arg332=)
c.978G>A (p.Arg326=)
c.876G>A (p.Arg292=)
n.1332-109C>T
c.1056G>A (p.Arg352=)
c.1158G>A (p.Arg386=)
c.1098G>A (p.Arg366=)
n.3607-109C>T
n.4043-109C>T
c.981G>A (p.Arg327=)
c.999G>A (p.Arg333=)
c.756G>A (p.Arg252=)
c.789G>A (p.Arg263=)
c.807G>A (p.Arg269=)
2g.127428373G>CCA428618857PROCc.813G>C (p.Arg271=)
c.137G>C
c.915G>C (p.Arg305=)
c.996G>C (p.Arg332=)
c.978G>C (p.Arg326=)
c.876G>C (p.Arg292=)
n.1332-109C>G
c.1056G>C (p.Arg352=)
c.1158G>C (p.Arg386=)
c.1098G>C (p.Arg366=)
n.3607-109C>G
n.4043-109C>G
c.981G>C (p.Arg327=)
c.999G>C (p.Arg333=)
c.756G>C (p.Arg252=)
c.789G>C (p.Arg263=)
c.807G>C (p.Arg269=)
2g.127428373G>TCA428618858PROCc.813G>T (p.Arg271=)
c.137G>T
c.915G>T (p.Arg305=)
c.996G>T (p.Arg332=)
c.978G>T (p.Arg326=)
c.876G>T (p.Arg292=)
n.1332-109C>A
c.1056G>T (p.Arg352=)
c.1158G>T (p.Arg386=)
c.1098G>T (p.Arg366=)
n.3607-109C>A
n.4043-109C>A
c.981G>T (p.Arg327=)
c.999G>T (p.Arg333=)
c.756G>T (p.Arg252=)
c.789G>T (p.Arg263=)
c.807G>T (p.Arg269=)
2g.127428374C>ACA348404275PROCc.814C>A (p.Arg272Ser)
c.138C>A
c.916C>A (p.Arg306Ser)
c.997C>A (p.Arg333Ser)
c.979C>A (p.Arg327Ser)
c.877C>A (p.Arg293Ser)
n.1332-110G>T
c.1057C>A (p.Arg353Ser)
c.1159C>A (p.Arg387Ser)
c.1099C>A (p.Arg367Ser)
n.3607-110G>T
n.4043-110G>T
c.982C>A (p.Arg328Ser)
c.1000C>A (p.Arg334Ser)
c.757C>A (p.Arg253Ser)
c.790C>A (p.Arg264Ser)
c.808C>A (p.Arg270Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.127428374C=CA1286884436PROCc.814C= (p.Arg272=)
c.138C=
c.916C= (p.Arg306=)
c.997C= (p.Arg333=)
c.979C= (p.Arg327=)
c.877C= (p.Arg293=)
n.1332-110G=
c.1057C= (p.Arg353=)
c.1159C= (p.Arg387=)
c.1099C= (p.Arg367=)
n.3607-110G=
n.4043-110G=
c.982C= (p.Arg328=)
c.1000C= (p.Arg334=)
c.757C= (p.Arg253=)
c.790C= (p.Arg264=)
c.808C= (p.Arg270=)
2g.127428374C>GCA348404277PROCc.814C>G (p.Arg272Gly)
c.138C>G
c.916C>G (p.Arg306Gly)
c.997C>G (p.Arg333Gly)
c.979C>G (p.Arg327Gly)
c.877C>G (p.Arg293Gly)
n.1332-110G>C
c.1057C>G (p.Arg353Gly)
c.1159C>G (p.Arg387Gly)
c.1099C>G (p.Arg367Gly)
n.3607-110G>C
n.4043-110G>C
c.982C>G (p.Arg328Gly)
c.1000C>G (p.Arg334Gly)
c.757C>G (p.Arg253Gly)
c.790C>G (p.Arg264Gly)
c.808C>G (p.Arg270Gly)
2g.127428374C>TCA114414PROCc.814C>T (p.Arg272Cys)
c.138C>T
c.916C>T (p.Arg306Cys)
c.997C>T (p.Arg333Cys)
c.979C>T (p.Arg327Cys)
c.877C>T (p.Arg293Cys)
n.1332-110G>A
c.1057C>T (p.Arg353Cys)
c.1159C>T (p.Arg387Cys)
c.1099C>T (p.Arg367Cys)
n.3607-110G>A
n.4043-110G>A
c.982C>T (p.Arg328Cys)
c.1000C>T (p.Arg334Cys)
c.757C>T (p.Arg253Cys)
c.790C>T (p.Arg264Cys)
c.808C>T (p.Arg270Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428375G>ACA348404281PROCc.815G>A (p.Arg272His)
c.139G>A
c.917G>A (p.Arg306His)
c.998G>A (p.Arg333His)
c.980G>A (p.Arg327His)
c.878G>A (p.Arg293His)
n.1332-111C>T
c.1058G>A (p.Arg353His)
c.1160G>A (p.Arg387His)
c.1100G>A (p.Arg367His)
n.3607-111C>T
n.4043-111C>T
c.983G>A (p.Arg328His)
c.1001G>A (p.Arg334His)
c.758G>A (p.Arg253His)
c.791G>A (p.Arg264His)
c.809G>A (p.Arg270His)
 ClinVar dbSNP gnomAD v4
2g.127428375G>CCA348404282PROCc.815G>C (p.Arg272Pro)
c.139G>C
c.917G>C (p.Arg306Pro)
c.998G>C (p.Arg333Pro)
c.980G>C (p.Arg327Pro)
c.878G>C (p.Arg293Pro)
n.1332-111C>G
c.1058G>C (p.Arg353Pro)
c.1160G>C (p.Arg387Pro)
c.1100G>C (p.Arg367Pro)
n.3607-111C>G
n.4043-111C>G
c.983G>C (p.Arg328Pro)
c.1001G>C (p.Arg334Pro)
c.758G>C (p.Arg253Pro)
c.791G>C (p.Arg264Pro)
c.809G>C (p.Arg270Pro)
2g.127428375G=CA1286884437PROCc.815G= (p.Arg272=)
c.139G=
c.917G= (p.Arg306=)
c.998G= (p.Arg333=)
c.980G= (p.Arg327=)
c.878G= (p.Arg293=)
n.1332-111C=
c.1058G= (p.Arg353=)
c.1160G= (p.Arg387=)
c.1100G= (p.Arg367=)
n.3607-111C=
n.4043-111C=
c.983G= (p.Arg328=)
c.1001G= (p.Arg334=)
c.758G= (p.Arg253=)
c.791G= (p.Arg264=)
c.809G= (p.Arg270=)
2g.127428375G>TCA348404284PROCc.815G>T (p.Arg272Leu)
c.139G>T
c.917G>T (p.Arg306Leu)
c.998G>T (p.Arg333Leu)
c.980G>T (p.Arg327Leu)
c.878G>T (p.Arg293Leu)
n.1332-111C>A
c.1058G>T (p.Arg353Leu)
c.1160G>T (p.Arg387Leu)
c.1100G>T (p.Arg367Leu)
n.3607-111C>A
n.4043-111C>A
c.983G>T (p.Arg328Leu)
c.1001G>T (p.Arg334Leu)
c.758G>T (p.Arg253Leu)
c.791G>T (p.Arg264Leu)
c.809G>T (p.Arg270Leu)
 gnomAD v4
2g.127428376C>ACA428618862PROCc.816C>A (p.Arg272=)
c.140C>A
c.918C>A (p.Arg306=)
c.999C>A (p.Arg333=)
c.981C>A (p.Arg327=)
c.879C>A (p.Arg293=)
n.1332-112G>T
c.1059C>A (p.Arg353=)
c.1161C>A (p.Arg387=)
c.1101C>A (p.Arg367=)
n.3607-112G>T
n.4043-112G>T
c.984C>A (p.Arg328=)
c.1002C>A (p.Arg334=)
c.759C>A (p.Arg253=)
c.792C>A (p.Arg264=)
c.810C>A (p.Arg270=)
2g.127428376C=CA1286884438PROCc.816C= (p.Arg272=)
c.140C=
c.918C= (p.Arg306=)
c.999C= (p.Arg333=)
c.981C= (p.Arg327=)
c.879C= (p.Arg293=)
n.1332-112G=
c.1059C= (p.Arg353=)
c.1161C= (p.Arg387=)
c.1101C= (p.Arg367=)
n.3607-112G=
n.4043-112G=
c.984C= (p.Arg328=)
c.1002C= (p.Arg334=)
c.759C= (p.Arg253=)
c.792C= (p.Arg264=)
c.810C= (p.Arg270=)
2g.127428376C>GCA428618863PROCc.816C>G (p.Arg272=)
c.140C>G
c.918C>G (p.Arg306=)
c.999C>G (p.Arg333=)
c.981C>G (p.Arg327=)
c.879C>G (p.Arg293=)
n.1332-112G>C
c.1059C>G (p.Arg353=)
c.1161C>G (p.Arg387=)
c.1101C>G (p.Arg367=)
n.3607-112G>C
n.4043-112G>C
c.984C>G (p.Arg328=)
c.1002C>G (p.Arg334=)
c.759C>G (p.Arg253=)
c.792C>G (p.Arg264=)
c.810C>G (p.Arg270=)
 dbSNP gnomAD v4
2g.127428376C>TCA428618865PROCc.816C>T (p.Arg272=)
c.140C>T
c.918C>T (p.Arg306=)
c.999C>T (p.Arg333=)
c.981C>T (p.Arg327=)
c.879C>T (p.Arg293=)
n.1332-112G>A
c.1059C>T (p.Arg353=)
c.1161C>T (p.Arg387=)
c.1101C>T (p.Arg367=)
n.3607-112G>A
n.4043-112G>A
c.984C>T (p.Arg328=)
c.1002C>T (p.Arg334=)
c.759C>T (p.Arg253=)
c.792C>T (p.Arg264=)
c.810C>T (p.Arg270=)
2g.127428377T>ACA348404286PROCc.817T>A (p.Trp273Arg)
c.141T>A
c.919T>A (p.Trp307Arg)
c.1000T>A (p.Trp334Arg)
c.982T>A (p.Trp328Arg)
c.880T>A (p.Trp294Arg)
n.1332-113A>T
c.1060T>A (p.Trp354Arg)
c.1162T>A (p.Trp388Arg)
c.1102T>A (p.Trp368Arg)
n.3607-113A>T
n.4043-113A>T
c.985T>A (p.Trp329Arg)
c.1003T>A (p.Trp335Arg)
c.760T>A (p.Trp254Arg)
c.793T>A (p.Trp265Arg)
c.811T>A (p.Trp271Arg)
2g.127428377T>CCA348404288PROCc.817T>C (p.Trp273Arg)
c.141T>C
c.919T>C (p.Trp307Arg)
c.1000T>C (p.Trp334Arg)
c.982T>C (p.Trp328Arg)
c.880T>C (p.Trp294Arg)
n.1332-113A>G
c.1060T>C (p.Trp354Arg)
c.1162T>C (p.Trp388Arg)
c.1102T>C (p.Trp368Arg)
n.3607-113A>G
n.4043-113A>G
c.985T>C (p.Trp329Arg)
c.1003T>C (p.Trp335Arg)
c.760T>C (p.Trp254Arg)
c.793T>C (p.Trp265Arg)
c.811T>C (p.Trp271Arg)
2g.127428377T>GCA348404290PROCc.817T>G (p.Trp273Gly)
c.141T>G
c.919T>G (p.Trp307Gly)
c.1000T>G (p.Trp334Gly)
c.982T>G (p.Trp328Gly)
c.880T>G (p.Trp294Gly)
n.1332-113A>C
c.1060T>G (p.Trp354Gly)
c.1162T>G (p.Trp388Gly)
c.1102T>G (p.Trp368Gly)
n.3607-113A>C
n.4043-113A>C
c.985T>G (p.Trp329Gly)
c.1003T>G (p.Trp335Gly)
c.760T>G (p.Trp254Gly)
c.793T>G (p.Trp265Gly)
c.811T>G (p.Trp271Gly)
2g.127428378G>ACA348404292PROCc.818G>A (p.Trp273Ter)
c.142G>A
c.920G>A (p.Trp307Ter)
c.1001G>A (p.Trp334Ter)
c.983G>A (p.Trp328Ter)
c.881G>A (p.Trp294Ter)
n.1332-114C>T
c.1061G>A (p.Trp354Ter)
c.1163G>A (p.Trp388Ter)
c.1103G>A (p.Trp368Ter)
n.3607-114C>T
n.4043-114C>T
c.986G>A (p.Trp329Ter)
c.1004G>A (p.Trp335Ter)
c.761G>A (p.Trp254Ter)
c.794G>A (p.Trp265Ter)
c.812G>A (p.Trp271Ter)
2g.127428378G>CCA348404293PROCc.818G>C (p.Trp273Ser)
c.142G>C
c.920G>C (p.Trp307Ser)
c.1001G>C (p.Trp334Ser)
c.983G>C (p.Trp328Ser)
c.881G>C (p.Trp294Ser)
n.1332-114C>G
c.1061G>C (p.Trp354Ser)
c.1163G>C (p.Trp388Ser)
c.1103G>C (p.Trp368Ser)
n.3607-114C>G
n.4043-114C>G
c.986G>C (p.Trp329Ser)
c.1004G>C (p.Trp335Ser)
c.761G>C (p.Trp254Ser)
c.794G>C (p.Trp265Ser)
c.812G>C (p.Trp271Ser)
2g.127428378G>TCA348404295PROCc.818G>T (p.Trp273Leu)
c.142G>T
c.920G>T (p.Trp307Leu)
c.1001G>T (p.Trp334Leu)
c.983G>T (p.Trp328Leu)
c.881G>T (p.Trp294Leu)
n.1332-114C>A
c.1061G>T (p.Trp354Leu)
c.1163G>T (p.Trp388Leu)
c.1103G>T (p.Trp368Leu)
n.3607-114C>A
n.4043-114C>A
c.986G>T (p.Trp329Leu)
c.1004G>T (p.Trp335Leu)
c.761G>T (p.Trp254Leu)
c.794G>T (p.Trp265Leu)
c.812G>T (p.Trp271Leu)
2g.127428379G>ACA348404301PROCc.819G>A (p.Trp273Ter)
c.143G>A
c.921G>A (p.Trp307Ter)
c.1002G>A (p.Trp334Ter)
c.984G>A (p.Trp328Ter)
c.882G>A (p.Trp294Ter)
n.1332-115C>T
c.1062G>A (p.Trp354Ter)
c.1164G>A (p.Trp388Ter)
c.1104G>A (p.Trp368Ter)
n.3607-115C>T
n.4043-115C>T
c.987G>A (p.Trp329Ter)
c.1005G>A (p.Trp335Ter)
c.762G>A (p.Trp254Ter)
c.795G>A (p.Trp265Ter)
c.813G>A (p.Trp271Ter)
2g.127428379G>CCA348404300PROCc.819G>C (p.Trp273Cys)
c.143G>C
c.921G>C (p.Trp307Cys)
c.1002G>C (p.Trp334Cys)
c.984G>C (p.Trp328Cys)
c.882G>C (p.Trp294Cys)
n.1332-115C>G
c.1062G>C (p.Trp354Cys)
c.1164G>C (p.Trp388Cys)
c.1104G>C (p.Trp368Cys)
n.3607-115C>G
n.4043-115C>G
c.987G>C (p.Trp329Cys)
c.1005G>C (p.Trp335Cys)
c.762G>C (p.Trp254Cys)
c.795G>C (p.Trp265Cys)
c.813G>C (p.Trp271Cys)
2g.127428379G=CA1286884439PROCc.819G= (p.Trp273=)
c.143G=
c.921G= (p.Trp307=)
c.1002G= (p.Trp334=)
c.984G= (p.Trp328=)
c.882G= (p.Trp294=)
n.1332-115C=
c.1062G= (p.Trp354=)
c.1164G= (p.Trp388=)
c.1104G= (p.Trp368=)
n.3607-115C=
n.4043-115C=
c.987G= (p.Trp329=)
c.1005G= (p.Trp335=)
c.762G= (p.Trp254=)
c.795G= (p.Trp265=)
c.813G= (p.Trp271=)
2g.127428379G>TCA348404298PROCc.819G>T (p.Trp273Cys)
c.143G>T
c.921G>T (p.Trp307Cys)
c.1002G>T (p.Trp334Cys)
c.984G>T (p.Trp328Cys)
c.882G>T (p.Trp294Cys)
n.1332-115C>A
c.1062G>T (p.Trp354Cys)
c.1164G>T (p.Trp388Cys)
c.1104G>T (p.Trp368Cys)
n.3607-115C>A
n.4043-115C>A
c.987G>T (p.Trp329Cys)
c.1005G>T (p.Trp335Cys)
c.762G>T (p.Trp254Cys)
c.795G>T (p.Trp265Cys)
c.813G>T (p.Trp271Cys)
 ClinVar dbSNP
2g.127428380G>ACA348404303PROCc.820G>A (p.Glu274Lys)
c.144G>A
c.922G>A (p.Glu308Lys)
c.1003G>A (p.Glu335Lys)
c.985G>A (p.Glu329Lys)
c.883G>A (p.Glu295Lys)
n.1332-116C>T
c.1063G>A (p.Glu355Lys)
c.1165G>A (p.Glu389Lys)
c.1105G>A (p.Glu369Lys)
n.3607-116C>T
n.4043-116C>T
c.988G>A (p.Glu330Lys)
c.1006G>A (p.Glu336Lys)
c.763G>A (p.Glu255Lys)
c.796G>A (p.Glu266Lys)
c.814G>A (p.Glu272Lys)
 dbSNP COSMIC COSMIC
2g.127428380G>CCA348404306PROCc.820G>C (p.Glu274Gln)
c.144G>C
c.922G>C (p.Glu308Gln)
c.1003G>C (p.Glu335Gln)
c.985G>C (p.Glu329Gln)
c.883G>C (p.Glu295Gln)
n.1332-116C>G
c.1063G>C (p.Glu355Gln)
c.1165G>C (p.Glu389Gln)
c.1105G>C (p.Glu369Gln)
n.3607-116C>G
n.4043-116C>G
c.988G>C (p.Glu330Gln)
c.1006G>C (p.Glu336Gln)
c.763G>C (p.Glu255Gln)
c.796G>C (p.Glu266Gln)
c.814G>C (p.Glu272Gln)
2g.127428380G=CA1286884440PROCc.820G= (p.Glu274=)
c.144G=
c.922G= (p.Glu308=)
c.1003G= (p.Glu335=)
c.985G= (p.Glu329=)
c.883G= (p.Glu295=)
n.1332-116C=
c.1063G= (p.Glu355=)
c.1165G= (p.Glu389=)
c.1105G= (p.Glu369=)
n.3607-116C=
n.4043-116C=
c.988G= (p.Glu330=)
c.1006G= (p.Glu336=)
c.763G= (p.Glu255=)
c.796G= (p.Glu266=)
c.814G= (p.Glu272=)
2g.127428380G>TCA1859466PROCc.820G>T (p.Glu274Ter)
c.144G>T
c.922G>T (p.Glu308Ter)
c.1003G>T (p.Glu335Ter)
c.985G>T (p.Glu329Ter)
c.883G>T (p.Glu295Ter)
n.1332-116C>A
c.1063G>T (p.Glu355Ter)
c.1165G>T (p.Glu389Ter)
c.1105G>T (p.Glu369Ter)
n.3607-116C>A
n.4043-116C>A
c.988G>T (p.Glu330Ter)
c.1006G>T (p.Glu336Ter)
c.763G>T (p.Glu255Ter)
c.796G>T (p.Glu266Ter)
c.814G>T (p.Glu272Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428381A>CCA348404308PROCc.821A>C (p.Glu274Ala)
c.145A>C
c.923A>C (p.Glu308Ala)
c.1004A>C (p.Glu335Ala)
c.986A>C (p.Glu329Ala)
c.884A>C (p.Glu295Ala)
n.1332-117T>G
c.1064A>C (p.Glu355Ala)
c.1166A>C (p.Glu389Ala)
c.1106A>C (p.Glu369Ala)
n.3607-117T>G
n.4043-117T>G
c.989A>C (p.Glu330Ala)
c.1007A>C (p.Glu336Ala)
c.764A>C (p.Glu255Ala)
c.797A>C (p.Glu266Ala)
c.815A>C (p.Glu272Ala)
2g.127428381A>GCA348404312PROCc.821A>G (p.Glu274Gly)
c.145A>G
c.923A>G (p.Glu308Gly)
c.1004A>G (p.Glu335Gly)
c.986A>G (p.Glu329Gly)
c.884A>G (p.Glu295Gly)
n.1332-117T>C
c.1064A>G (p.Glu355Gly)
c.1166A>G (p.Glu389Gly)
c.1106A>G (p.Glu369Gly)
n.3607-117T>C
n.4043-117T>C
c.989A>G (p.Glu330Gly)
c.1007A>G (p.Glu336Gly)
c.764A>G (p.Glu255Gly)
c.797A>G (p.Glu266Gly)
c.815A>G (p.Glu272Gly)
 gnomAD v4
2g.127428381A>TCA348404310PROCc.821A>T (p.Glu274Val)
c.145A>T
c.923A>T (p.Glu308Val)
c.1004A>T (p.Glu335Val)
c.986A>T (p.Glu329Val)
c.884A>T (p.Glu295Val)
n.1332-117T>A
c.1064A>T (p.Glu355Val)
c.1166A>T (p.Glu389Val)
c.1106A>T (p.Glu369Val)
n.3607-117T>A
n.4043-117T>A
c.989A>T (p.Glu330Val)
c.1007A>T (p.Glu336Val)
c.764A>T (p.Glu255Val)
c.797A>T (p.Glu266Val)
c.815A>T (p.Glu272Val)
2g.127428382G>ACA428618870PROCc.822G>A (p.Glu274=)
c.146G>A
c.924G>A (p.Glu308=)
c.1005G>A (p.Glu335=)
c.987G>A (p.Glu329=)
c.885G>A (p.Glu295=)
n.1332-118C>T
c.1065G>A (p.Glu355=)
c.1167G>A (p.Glu389=)
c.1107G>A (p.Glu369=)
n.3607-118C>T
n.4043-118C>T
c.990G>A (p.Glu330=)
c.1008G>A (p.Glu336=)
c.765G>A (p.Glu255=)
c.798G>A (p.Glu266=)
c.816G>A (p.Glu272=)
 dbSNP
2g.127428382G>CCA348404314PROCc.822G>C (p.Glu274Asp)
c.146G>C
c.924G>C (p.Glu308Asp)
c.1005G>C (p.Glu335Asp)
c.987G>C (p.Glu329Asp)
c.885G>C (p.Glu295Asp)
n.1332-118C>G
c.1065G>C (p.Glu355Asp)
c.1167G>C (p.Glu389Asp)
c.1107G>C (p.Glu369Asp)
n.3607-118C>G
n.4043-118C>G
c.990G>C (p.Glu330Asp)
c.1008G>C (p.Glu336Asp)
c.765G>C (p.Glu255Asp)
c.798G>C (p.Glu266Asp)
c.816G>C (p.Glu272Asp)
2g.127428382G=CA1286884441PROCc.822G= (p.Glu274=)
c.146G=
c.924G= (p.Glu308=)
c.1005G= (p.Glu335=)
c.987G= (p.Glu329=)
c.885G= (p.Glu295=)
n.1332-118C=
c.1065G= (p.Glu355=)
c.1167G= (p.Glu389=)
c.1107G= (p.Glu369=)
n.3607-118C=
n.4043-118C=
c.990G= (p.Glu330=)
c.1008G= (p.Glu336=)
c.765G= (p.Glu255=)
c.798G= (p.Glu266=)
c.816G= (p.Glu272=)
2g.127428382G>TCA348404315PROCc.822G>T (p.Glu274Asp)
c.146G>T
c.924G>T (p.Glu308Asp)
c.1005G>T (p.Glu335Asp)
c.987G>T (p.Glu329Asp)
c.885G>T (p.Glu295Asp)
n.1332-118C>A
c.1065G>T (p.Glu355Asp)
c.1167G>T (p.Glu389Asp)
c.1107G>T (p.Glu369Asp)
n.3607-118C>A
n.4043-118C>A
c.990G>T (p.Glu330Asp)
c.1008G>T (p.Glu336Asp)
c.765G>T (p.Glu255Asp)
c.798G>T (p.Glu266Asp)
c.816G>T (p.Glu272Asp)
2g.127428383A>CCA348404318PROCc.823A>C (p.Lys275Gln)
c.147A>C
c.925A>C (p.Lys309Gln)
c.1006A>C (p.Lys336Gln)
c.988A>C (p.Lys330Gln)
c.886A>C (p.Lys296Gln)
n.1332-119T>G
c.1066A>C (p.Lys356Gln)
c.1168A>C (p.Lys390Gln)
c.1108A>C (p.Lys370Gln)
n.3607-119T>G
n.4043-119T>G
c.991A>C (p.Lys331Gln)
c.1009A>C (p.Lys337Gln)
c.766A>C (p.Lys256Gln)
c.799A>C (p.Lys267Gln)
c.817A>C (p.Lys273Gln)
2g.127428383A>GCA348404320PROCc.823A>G (p.Lys275Glu)
c.147A>G
c.925A>G (p.Lys309Glu)
c.1006A>G (p.Lys336Glu)
c.988A>G (p.Lys330Glu)
c.886A>G (p.Lys296Glu)
n.1332-119T>C
c.1066A>G (p.Lys356Glu)
c.1168A>G (p.Lys390Glu)
c.1108A>G (p.Lys370Glu)
n.3607-119T>C
n.4043-119T>C
c.991A>G (p.Lys331Glu)
c.1009A>G (p.Lys337Glu)
c.766A>G (p.Lys256Glu)
c.799A>G (p.Lys267Glu)
c.817A>G (p.Lys273Glu)
2g.127428383A>TCA348404321PROCc.823A>T (p.Lys275Ter)
c.147A>T
c.925A>T (p.Lys309Ter)
c.1006A>T (p.Lys336Ter)
c.988A>T (p.Lys330Ter)
c.886A>T (p.Lys296Ter)
n.1332-119T>A
c.1066A>T (p.Lys356Ter)
c.1168A>T (p.Lys390Ter)
c.1108A>T (p.Lys370Ter)
n.3607-119T>A
n.4043-119T>A
c.991A>T (p.Lys331Ter)
c.1009A>T (p.Lys337Ter)
c.766A>T (p.Lys256Ter)
c.799A>T (p.Lys267Ter)
c.817A>T (p.Lys273Ter)
2g.127428384A>CCA348404322PROCc.824A>C (p.Lys275Thr)
c.148A>C
c.926A>C (p.Lys309Thr)
c.1007A>C (p.Lys336Thr)
c.989A>C (p.Lys330Thr)
c.887A>C (p.Lys296Thr)
n.1332-120T>G
c.1067A>C (p.Lys356Thr)
c.1169A>C (p.Lys390Thr)
c.1109A>C (p.Lys370Thr)
n.3607-120T>G
n.4043-120T>G
c.992A>C (p.Lys331Thr)
c.1010A>C (p.Lys337Thr)
c.767A>C (p.Lys256Thr)
c.800A>C (p.Lys267Thr)
c.818A>C (p.Lys273Thr)
 gnomAD v4
2g.127428384A>GCA348404324PROCc.824A>G (p.Lys275Arg)
c.148A>G
c.926A>G (p.Lys309Arg)
c.1007A>G (p.Lys336Arg)
c.989A>G (p.Lys330Arg)
c.887A>G (p.Lys296Arg)
n.1332-120T>C
c.1067A>G (p.Lys356Arg)
c.1169A>G (p.Lys390Arg)
c.1109A>G (p.Lys370Arg)
n.3607-120T>C
n.4043-120T>C
c.992A>G (p.Lys331Arg)
c.1010A>G (p.Lys337Arg)
c.767A>G (p.Lys256Arg)
c.800A>G (p.Lys267Arg)
c.818A>G (p.Lys273Arg)
2g.127428384A>TCA348404326PROCc.824A>T (p.Lys275Met)
c.148A>T
c.926A>T (p.Lys309Met)
c.1007A>T (p.Lys336Met)
c.989A>T (p.Lys330Met)
c.887A>T (p.Lys296Met)
n.1332-120T>A
c.1067A>T (p.Lys356Met)
c.1169A>T (p.Lys390Met)
c.1109A>T (p.Lys370Met)
n.3607-120T>A
n.4043-120T>A
c.992A>T (p.Lys331Met)
c.1010A>T (p.Lys337Met)
c.767A>T (p.Lys256Met)
c.800A>T (p.Lys267Met)
c.818A>T (p.Lys273Met)
2g.127428385G>ACA1859467PROCc.825G>A (p.Lys275=)
c.149G>A
c.927G>A (p.Lys309=)
c.1008G>A (p.Lys336=)
c.990G>A (p.Lys330=)
c.888G>A (p.Lys296=)
n.1332-121C>T
c.1068G>A (p.Lys356=)
c.1170G>A (p.Lys390=)
c.1110G>A (p.Lys370=)
n.3607-121C>T
n.4043-121C>T
c.993G>A (p.Lys331=)
c.1011G>A (p.Lys337=)
c.768G>A (p.Lys256=)
c.801G>A (p.Lys267=)
c.819G>A (p.Lys273=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428385G>CCA55350579PROCc.825G>C (p.Lys275Asn)
c.149G>C
c.927G>C (p.Lys309Asn)
c.1008G>C (p.Lys336Asn)
c.990G>C (p.Lys330Asn)
c.888G>C (p.Lys296Asn)
n.1332-121C>G
c.1068G>C (p.Lys356Asn)
c.1170G>C (p.Lys390Asn)
c.1110G>C (p.Lys370Asn)
n.3607-121C>G
n.4043-121C>G
c.993G>C (p.Lys331Asn)
c.1011G>C (p.Lys337Asn)
c.768G>C (p.Lys256Asn)
c.801G>C (p.Lys267Asn)
c.819G>C (p.Lys273Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428385G=CA1286884442PROCc.825G= (p.Lys275=)
c.149G=
c.927G= (p.Lys309=)
c.1008G= (p.Lys336=)
c.990G= (p.Lys330=)
c.888G= (p.Lys296=)
n.1332-121C=
c.1068G= (p.Lys356=)
c.1170G= (p.Lys390=)
c.1110G= (p.Lys370=)
n.3607-121C=
n.4043-121C=
c.993G= (p.Lys331=)
c.1011G= (p.Lys337=)
c.768G= (p.Lys256=)
c.801G= (p.Lys267=)
c.819G= (p.Lys273=)
2g.127428385G>TCA348404330PROCc.825G>T (p.Lys275Asn)
c.149G>T
c.927G>T (p.Lys309Asn)
c.1008G>T (p.Lys336Asn)
c.990G>T (p.Lys330Asn)
c.888G>T (p.Lys296Asn)
n.1332-121C>A
c.1068G>T (p.Lys356Asn)
c.1170G>T (p.Lys390Asn)
c.1110G>T (p.Lys370Asn)
n.3607-121C>A
n.4043-121C>A
c.993G>T (p.Lys331Asn)
c.1011G>T (p.Lys337Asn)
c.768G>T (p.Lys256Asn)
c.801G>T (p.Lys267Asn)
c.819G>T (p.Lys273Asn)
2g.127428386T>ACA348404332PROCc.826T>A (p.Trp276Arg)
c.150T>A
c.928T>A (p.Trp310Arg)
c.1009T>A (p.Trp337Arg)
c.991T>A (p.Trp331Arg)
c.889T>A (p.Trp297Arg)
n.1332-122A>T
c.1069T>A (p.Trp357Arg)
c.1171T>A (p.Trp391Arg)
c.1111T>A (p.Trp371Arg)
n.3607-122A>T
n.4043-122A>T
c.994T>A (p.Trp332Arg)
c.1012T>A (p.Trp338Arg)
c.769T>A (p.Trp257Arg)
c.802T>A (p.Trp268Arg)
c.820T>A (p.Trp274Arg)
2g.127428386T>CCA348404336PROCc.826T>C (p.Trp276Arg)
c.150T>C
c.928T>C (p.Trp310Arg)
c.1009T>C (p.Trp337Arg)
c.991T>C (p.Trp331Arg)
c.889T>C (p.Trp297Arg)
n.1332-122A>G
c.1069T>C (p.Trp357Arg)
c.1171T>C (p.Trp391Arg)
c.1111T>C (p.Trp371Arg)
n.3607-122A>G
n.4043-122A>G
c.994T>C (p.Trp332Arg)
c.1012T>C (p.Trp338Arg)
c.769T>C (p.Trp257Arg)
c.802T>C (p.Trp268Arg)
c.820T>C (p.Trp274Arg)
2g.127428386T>GCA348404334PROCc.826T>G (p.Trp276Gly)
c.150T>G
c.928T>G (p.Trp310Gly)
c.1009T>G (p.Trp337Gly)
c.991T>G (p.Trp331Gly)
c.889T>G (p.Trp297Gly)
n.1332-122A>C
c.1069T>G (p.Trp357Gly)
c.1171T>G (p.Trp391Gly)
c.1111T>G (p.Trp371Gly)
n.3607-122A>C
n.4043-122A>C
c.994T>G (p.Trp332Gly)
c.1012T>G (p.Trp338Gly)
c.769T>G (p.Trp257Gly)
c.802T>G (p.Trp268Gly)
c.820T>G (p.Trp274Gly)
 dbSNP gnomAD v4
2g.127428386T=CA1286884443PROCc.826T= (p.Trp276=)
c.150T=
c.928T= (p.Trp310=)
c.1009T= (p.Trp337=)
c.991T= (p.Trp331=)
c.889T= (p.Trp297=)
n.1332-122A=
c.1069T= (p.Trp357=)
c.1171T= (p.Trp391=)
c.1111T= (p.Trp371=)
n.3607-122A=
n.4043-122A=
c.994T= (p.Trp332=)
c.1012T= (p.Trp338=)
c.769T= (p.Trp257=)
c.802T= (p.Trp268=)
c.820T= (p.Trp274=)
2g.127428387G>ACA348404338PROCc.827G>A (p.Trp276Ter)
c.151G>A
c.929G>A (p.Trp310Ter)
c.1010G>A (p.Trp337Ter)
c.992G>A (p.Trp331Ter)
c.890G>A (p.Trp297Ter)
n.1332-123C>T
c.1070G>A (p.Trp357Ter)
c.1172G>A (p.Trp391Ter)
c.1112G>A (p.Trp371Ter)
n.3607-123C>T
n.4043-123C>T
c.995G>A (p.Trp332Ter)
c.1013G>A (p.Trp338Ter)
c.770G>A (p.Trp257Ter)
c.803G>A (p.Trp268Ter)
c.821G>A (p.Trp274Ter)
2g.127428387G>CCA348404339PROCc.827G>C (p.Trp276Ser)
c.151G>C
c.929G>C (p.Trp310Ser)
c.1010G>C (p.Trp337Ser)
c.992G>C (p.Trp331Ser)
c.890G>C (p.Trp297Ser)
n.1332-123C>G
c.1070G>C (p.Trp357Ser)
c.1172G>C (p.Trp391Ser)
c.1112G>C (p.Trp371Ser)
n.3607-123C>G
n.4043-123C>G
c.995G>C (p.Trp332Ser)
c.1013G>C (p.Trp338Ser)
c.770G>C (p.Trp257Ser)
c.803G>C (p.Trp268Ser)
c.821G>C (p.Trp274Ser)
2g.127428387G>TCA348404342PROCc.827G>T (p.Trp276Leu)
c.151G>T
c.929G>T (p.Trp310Leu)
c.1010G>T (p.Trp337Leu)
c.992G>T (p.Trp331Leu)
c.890G>T (p.Trp297Leu)
n.1332-123C>A
c.1070G>T (p.Trp357Leu)
c.1172G>T (p.Trp391Leu)
c.1112G>T (p.Trp371Leu)
n.3607-123C>A
n.4043-123C>A
c.995G>T (p.Trp332Leu)
c.1013G>T (p.Trp338Leu)
c.770G>T (p.Trp257Leu)
c.803G>T (p.Trp268Leu)
c.821G>T (p.Trp274Leu)
2g.127428388G>ACA348404344PROCc.828G>A (p.Trp276Ter)
c.152G>A
c.930G>A (p.Trp310Ter)
c.1011G>A (p.Trp337Ter)
c.993G>A (p.Trp331Ter)
c.891G>A (p.Trp297Ter)
n.1332-124C>T
c.1071G>A (p.Trp357Ter)
c.1173G>A (p.Trp391Ter)
c.1113G>A (p.Trp371Ter)
n.3607-124C>T
n.4043-124C>T
c.996G>A (p.Trp332Ter)
c.1014G>A (p.Trp338Ter)
c.771G>A (p.Trp257Ter)
c.804G>A (p.Trp268Ter)
c.822G>A (p.Trp274Ter)
2g.127428388G>CCA348404345PROCc.828G>C (p.Trp276Cys)
c.152G>C
c.930G>C (p.Trp310Cys)
c.1011G>C (p.Trp337Cys)
c.993G>C (p.Trp331Cys)
c.891G>C (p.Trp297Cys)
n.1332-124C>G
c.1071G>C (p.Trp357Cys)
c.1173G>C (p.Trp391Cys)
c.1113G>C (p.Trp371Cys)
n.3607-124C>G
n.4043-124C>G
c.996G>C (p.Trp332Cys)
c.1014G>C (p.Trp338Cys)
c.771G>C (p.Trp257Cys)
c.804G>C (p.Trp268Cys)
c.822G>C (p.Trp274Cys)
2g.127428388G>TCA348404348PROCc.828G>T (p.Trp276Cys)
c.152G>T
c.930G>T (p.Trp310Cys)
c.1011G>T (p.Trp337Cys)
c.993G>T (p.Trp331Cys)
c.891G>T (p.Trp297Cys)
n.1332-124C>A
c.1071G>T (p.Trp357Cys)
c.1173G>T (p.Trp391Cys)
c.1113G>T (p.Trp371Cys)
n.3607-124C>A
n.4043-124C>A
c.996G>T (p.Trp332Cys)
c.1014G>T (p.Trp338Cys)
c.771G>T (p.Trp257Cys)
c.804G>T (p.Trp268Cys)
c.822G>T (p.Trp274Cys)
2g.127428389G>ACA348404350PROCc.829G>A (p.Glu277Lys)
c.153G>A
c.931G>A (p.Glu311Lys)
c.1012G>A (p.Glu338Lys)
c.994G>A (p.Glu332Lys)
c.892G>A (p.Glu298Lys)
n.1332-125C>T
c.1072G>A (p.Glu358Lys)
c.1174G>A (p.Glu392Lys)
c.1114G>A (p.Glu372Lys)
n.3607-125C>T
n.4043-125C>T
c.997G>A (p.Glu333Lys)
c.1015G>A (p.Glu339Lys)
c.772G>A (p.Glu258Lys)
c.805G>A (p.Glu269Lys)
c.823G>A (p.Glu275Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.127428389G>CCA348404352PROCc.829G>C (p.Glu277Gln)
c.153G>C
c.931G>C (p.Glu311Gln)
c.1012G>C (p.Glu338Gln)
c.994G>C (p.Glu332Gln)
c.892G>C (p.Glu298Gln)
n.1332-125C>G
c.1072G>C (p.Glu358Gln)
c.1174G>C (p.Glu392Gln)
c.1114G>C (p.Glu372Gln)
n.3607-125C>G
n.4043-125C>G
c.997G>C (p.Glu333Gln)
c.1015G>C (p.Glu339Gln)
c.772G>C (p.Glu258Gln)
c.805G>C (p.Glu269Gln)
c.823G>C (p.Glu275Gln)
2g.127428389G=CA1286884444PROCc.829G= (p.Glu277=)
c.153G=
c.931G= (p.Glu311=)
c.1012G= (p.Glu338=)
c.994G= (p.Glu332=)
c.892G= (p.Glu298=)
n.1332-125C=
c.1072G= (p.Glu358=)
c.1174G= (p.Glu392=)
c.1114G= (p.Glu372=)
n.3607-125C=
n.4043-125C=
c.997G= (p.Glu333=)
c.1015G= (p.Glu339=)
c.772G= (p.Glu258=)
c.805G= (p.Glu269=)
c.823G= (p.Glu275=)
2g.127428389G>TCA348404354PROCc.829G>T (p.Glu277Ter)
c.153G>T
c.931G>T (p.Glu311Ter)
c.1012G>T (p.Glu338Ter)
c.994G>T (p.Glu332Ter)
c.892G>T (p.Glu298Ter)
n.1332-125C>A
c.1072G>T (p.Glu358Ter)
c.1174G>T (p.Glu392Ter)
c.1114G>T (p.Glu372Ter)
n.3607-125C>A
n.4043-125C>A
c.997G>T (p.Glu333Ter)
c.1015G>T (p.Glu339Ter)
c.772G>T (p.Glu258Ter)
c.805G>T (p.Glu269Ter)
c.823G>T (p.Glu275Ter)
2g.127428390A>CCA348404358PROCc.830A>C (p.Glu277Ala)
c.154A>C
c.932A>C (p.Glu311Ala)
c.1013A>C (p.Glu338Ala)
c.995A>C (p.Glu332Ala)
c.893A>C (p.Glu298Ala)
n.1332-126T>G
c.1073A>C (p.Glu358Ala)
c.1175A>C (p.Glu392Ala)
c.1115A>C (p.Glu372Ala)
n.3607-126T>G
n.4043-126T>G
c.998A>C (p.Glu333Ala)
c.1016A>C (p.Glu339Ala)
c.773A>C (p.Glu258Ala)
c.806A>C (p.Glu269Ala)
c.824A>C (p.Glu275Ala)
2g.127428390A>GCA348404360PROCc.830A>G (p.Glu277Gly)
c.154A>G
c.932A>G (p.Glu311Gly)
c.1013A>G (p.Glu338Gly)
c.995A>G (p.Glu332Gly)
c.893A>G (p.Glu298Gly)
n.1332-126T>C
c.1073A>G (p.Glu358Gly)
c.1175A>G (p.Glu392Gly)
c.1115A>G (p.Glu372Gly)
n.3607-126T>C
n.4043-126T>C
c.998A>G (p.Glu333Gly)
c.1016A>G (p.Glu339Gly)
c.773A>G (p.Glu258Gly)
c.806A>G (p.Glu269Gly)
c.824A>G (p.Glu275Gly)
2g.127428390A>TCA348404356PROCc.830A>T (p.Glu277Val)
c.154A>T
c.932A>T (p.Glu311Val)
c.1013A>T (p.Glu338Val)
c.995A>T (p.Glu332Val)
c.893A>T (p.Glu298Val)
n.1332-126T>A
c.1073A>T (p.Glu358Val)
c.1175A>T (p.Glu392Val)
c.1115A>T (p.Glu372Val)
n.3607-126T>A
n.4043-126T>A
c.998A>T (p.Glu333Val)
c.1016A>T (p.Glu339Val)
c.773A>T (p.Glu258Val)
c.806A>T (p.Glu269Val)
c.824A>T (p.Glu275Val)
2g.127428391G>ACA428618872PROCc.831G>A (p.Glu277=)
c.155G>A
c.933G>A (p.Glu311=)
c.1014G>A (p.Glu338=)
c.996G>A (p.Glu332=)
c.894G>A (p.Glu298=)
n.1332-127C>T
c.1074G>A (p.Glu358=)
c.1176G>A (p.Glu392=)
c.1116G>A (p.Glu372=)
n.3607-127C>T
n.4043-127C>T
c.999G>A (p.Glu333=)
c.1017G>A (p.Glu339=)
c.774G>A (p.Glu258=)
c.807G>A (p.Glu269=)
c.825G>A (p.Glu275=)
 gnomAD v4
2g.127428391G>CCA348404361PROCc.831G>C (p.Glu277Asp)
c.155G>C
c.933G>C (p.Glu311Asp)
c.1014G>C (p.Glu338Asp)
c.996G>C (p.Glu332Asp)
c.894G>C (p.Glu298Asp)
n.1332-127C>G
c.1074G>C (p.Glu358Asp)
c.1176G>C (p.Glu392Asp)
c.1116G>C (p.Glu372Asp)
n.3607-127C>G
n.4043-127C>G
c.999G>C (p.Glu333Asp)
c.1017G>C (p.Glu339Asp)
c.774G>C (p.Glu258Asp)
c.807G>C (p.Glu269Asp)
c.825G>C (p.Glu275Asp)
2g.127428391G>TCA348404363PROCc.831G>T (p.Glu277Asp)
c.155G>T
c.933G>T (p.Glu311Asp)
c.1014G>T (p.Glu338Asp)
c.996G>T (p.Glu332Asp)
c.894G>T (p.Glu298Asp)
n.1332-127C>A
c.1074G>T (p.Glu358Asp)
c.1176G>T (p.Glu392Asp)
c.1116G>T (p.Glu372Asp)
n.3607-127C>A
n.4043-127C>A
c.999G>T (p.Glu333Asp)
c.1017G>T (p.Glu339Asp)
c.774G>T (p.Glu258Asp)
c.807G>T (p.Glu269Asp)
c.825G>T (p.Glu275Asp)
2g.127428392C>ACA348404365PROCc.832C>A (p.Leu278Met)
c.156C>A
c.934C>A (p.Leu312Met)
c.1015C>A (p.Leu339Met)
c.997C>A (p.Leu333Met)
c.895C>A (p.Leu299Met)
n.1332-128G>T
c.1075C>A (p.Leu359Met)
c.1177C>A (p.Leu393Met)
c.1117C>A (p.Leu373Met)
n.3607-128G>T
n.4043-128G>T
c.1000C>A (p.Leu334Met)
c.1018C>A (p.Leu340Met)
c.775C>A (p.Leu259Met)
c.808C>A (p.Leu270Met)
c.826C>A (p.Leu276Met)
 dbSNP gnomAD v2 gnomAD v4
2g.127428392C=CA1286884445PROCc.832C= (p.Leu278=)
c.156C=
c.934C= (p.Leu312=)
c.1015C= (p.Leu339=)
c.997C= (p.Leu333=)
c.895C= (p.Leu299=)
n.1332-128G=
c.1075C= (p.Leu359=)
c.1177C= (p.Leu393=)
c.1117C= (p.Leu373=)
n.3607-128G=
n.4043-128G=
c.1000C= (p.Leu334=)
c.1018C= (p.Leu340=)
c.775C= (p.Leu259=)
c.808C= (p.Leu270=)
c.826C= (p.Leu276=)
2g.127428392C>GCA1859468PROCc.832C>G (p.Leu278Val)
c.156C>G
c.934C>G (p.Leu312Val)
c.1015C>G (p.Leu339Val)
c.997C>G (p.Leu333Val)
c.895C>G (p.Leu299Val)
n.1332-128G>C
c.1075C>G (p.Leu359Val)
c.1177C>G (p.Leu393Val)
c.1117C>G (p.Leu373Val)
n.3607-128G>C
n.4043-128G>C
c.1000C>G (p.Leu334Val)
c.1018C>G (p.Leu340Val)
c.775C>G (p.Leu259Val)
c.808C>G (p.Leu270Val)
c.826C>G (p.Leu276Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428392C>TCA428618873PROCc.832C>T (p.Leu278=)
c.156C>T
c.934C>T (p.Leu312=)
c.1015C>T (p.Leu339=)
c.997C>T (p.Leu333=)
c.895C>T (p.Leu299=)
n.1332-128G>A
c.1075C>T (p.Leu359=)
c.1177C>T (p.Leu393=)
c.1117C>T (p.Leu373=)
n.3607-128G>A
n.4043-128G>A
c.1000C>T (p.Leu334=)
c.1018C>T (p.Leu340=)
c.775C>T (p.Leu259=)
c.808C>T (p.Leu270=)
c.826C>T (p.Leu276=)
2g.127428398_127428403dupCA2586969905PROCc.838_843dup (p.Asp281_Ile282insLeuAsp)
c.162_167dup
c.940_945dup (p.Asp315_Ile316insLeuAsp)
c.1021_1026dup (p.Asp342_Ile343insLeuAsp)
c.1003_1008dup (p.Asp336_Ile337insLeuAsp)
c.901_906dup (p.Asp302_Ile303insLeuAsp)
n.1332-133_1332-128dup
c.1081_1086dup (p.Asp362_Ile363insLeuAsp)
c.1183_1188dup (p.Asp396_Ile397insLeuAsp)
c.1123_1128dup (p.Asp376_Ile377insLeuAsp)
n.3607-133_3607-128dup
n.4043-133_4043-128dup
c.1006_1011dup (p.Asp337_Ile338insLeuAsp)
c.1024_1029dup (p.Asp343_Ile344insLeuAsp)
c.781_786dup (p.Asp262_Ile263insLeuAsp)
c.814_819dup (p.Asp273_Ile274insLeuAsp)
c.832_837dup (p.Asp279_Ile280insLeuAsp)
2g.127428393T>ACA348404369PROCc.833T>A (p.Leu278Gln)
c.157T>A
c.935T>A (p.Leu312Gln)
c.1016T>A (p.Leu339Gln)
c.998T>A (p.Leu333Gln)
c.896T>A (p.Leu299Gln)
n.1332-129A>T
c.1076T>A (p.Leu359Gln)
c.1178T>A (p.Leu393Gln)
c.1118T>A (p.Leu373Gln)
n.3607-129A>T
n.4043-129A>T
c.1001T>A (p.Leu334Gln)
c.1019T>A (p.Leu340Gln)
c.776T>A (p.Leu259Gln)
c.809T>A (p.Leu270Gln)
c.827T>A (p.Leu276Gln)
2g.127428393T>CCA348404371PROCc.833T>C (p.Leu278Pro)
c.157T>C
c.935T>C (p.Leu312Pro)
c.1016T>C (p.Leu339Pro)
c.998T>C (p.Leu333Pro)
c.896T>C (p.Leu299Pro)
n.1332-129A>G
c.1076T>C (p.Leu359Pro)
c.1178T>C (p.Leu393Pro)
c.1118T>C (p.Leu373Pro)
n.3607-129A>G
n.4043-129A>G
c.1001T>C (p.Leu334Pro)
c.1019T>C (p.Leu340Pro)
c.776T>C (p.Leu259Pro)
c.809T>C (p.Leu270Pro)
c.827T>C (p.Leu276Pro)
2g.127428393T>GCA348404372PROCc.833T>G (p.Leu278Arg)
c.157T>G
c.935T>G (p.Leu312Arg)
c.1016T>G (p.Leu339Arg)
c.998T>G (p.Leu333Arg)
c.896T>G (p.Leu299Arg)
n.1332-129A>C
c.1076T>G (p.Leu359Arg)
c.1178T>G (p.Leu393Arg)
c.1118T>G (p.Leu373Arg)
n.3607-129A>C
n.4043-129A>C
c.1001T>G (p.Leu334Arg)
c.1019T>G (p.Leu340Arg)
c.776T>G (p.Leu259Arg)
c.809T>G (p.Leu270Arg)
c.827T>G (p.Leu276Arg)
2g.127428394G>ACA55350582PROCc.834G>A (p.Leu278=)
c.158G>A
c.936G>A (p.Leu312=)
c.1017G>A (p.Leu339=)
c.999G>A (p.Leu333=)
c.897G>A (p.Leu299=)
n.1332-130C>T
c.1077G>A (p.Leu359=)
c.1179G>A (p.Leu393=)
c.1119G>A (p.Leu373=)
n.3607-130C>T
n.4043-130C>T
c.1002G>A (p.Leu334=)
c.1020G>A (p.Leu340=)
c.777G>A (p.Leu259=)
c.810G>A (p.Leu270=)
c.828G>A (p.Leu276=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428394G>CCA428618876PROCc.834G>C (p.Leu278=)
c.158G>C
c.936G>C (p.Leu312=)
c.1017G>C (p.Leu339=)
c.999G>C (p.Leu333=)
c.897G>C (p.Leu299=)
n.1332-130C>G
c.1077G>C (p.Leu359=)
c.1179G>C (p.Leu393=)
c.1119G>C (p.Leu373=)
n.3607-130C>G
n.4043-130C>G
c.1002G>C (p.Leu334=)
c.1020G>C (p.Leu340=)
c.777G>C (p.Leu259=)
c.810G>C (p.Leu270=)
c.828G>C (p.Leu276=)
2g.127428394G=CA1286884446PROCc.834G= (p.Leu278=)
c.158G=
c.936G= (p.Leu312=)
c.1017G= (p.Leu339=)
c.999G= (p.Leu333=)
c.897G= (p.Leu299=)
n.1332-130C=
c.1077G= (p.Leu359=)
c.1179G= (p.Leu393=)
c.1119G= (p.Leu373=)
n.3607-130C=
n.4043-130C=
c.1002G= (p.Leu334=)
c.1020G= (p.Leu340=)
c.777G= (p.Leu259=)
c.810G= (p.Leu270=)
c.828G= (p.Leu276=)
2g.127428394G>TCA428618875PROCc.834G>T (p.Leu278=)
c.158G>T
c.936G>T (p.Leu312=)
c.1017G>T (p.Leu339=)
c.999G>T (p.Leu333=)
c.897G>T (p.Leu299=)
n.1332-130C>A
c.1077G>T (p.Leu359=)
c.1179G>T (p.Leu393=)
c.1119G>T (p.Leu373=)
n.3607-130C>A
n.4043-130C>A
c.1002G>T (p.Leu334=)
c.1020G>T (p.Leu340=)
c.777G>T (p.Leu259=)
c.810G>T (p.Leu270=)
c.828G>T (p.Leu276=)
2g.127428395G>ACA348404376PROCc.835G>A (p.Asp279Asn)
c.159G>A
c.937G>A (p.Asp313Asn)
c.1018G>A (p.Asp340Asn)
c.1000G>A (p.Asp334Asn)
c.898G>A (p.Asp300Asn)
n.1332-131C>T
c.1078G>A (p.Asp360Asn)
c.1180G>A (p.Asp394Asn)
c.1120G>A (p.Asp374Asn)
n.3607-131C>T
n.4043-131C>T
c.1003G>A (p.Asp335Asn)
c.1021G>A (p.Asp341Asn)
c.778G>A (p.Asp260Asn)
c.811G>A (p.Asp271Asn)
c.829G>A (p.Asp277Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428395G>CCA348404378PROCc.835G>C (p.Asp279His)
c.159G>C
c.937G>C (p.Asp313His)
c.1018G>C (p.Asp340His)
c.1000G>C (p.Asp334His)
c.898G>C (p.Asp300His)
n.1332-131C>G
c.1078G>C (p.Asp360His)
c.1180G>C (p.Asp394His)
c.1120G>C (p.Asp374His)
n.3607-131C>G
n.4043-131C>G
c.1003G>C (p.Asp335His)
c.1021G>C (p.Asp341His)
c.778G>C (p.Asp260His)
c.811G>C (p.Asp271His)
c.829G>C (p.Asp277His)
2g.127428395G=CA1286884447PROCc.835G= (p.Asp279=)
c.159G=
c.937G= (p.Asp313=)
c.1018G= (p.Asp340=)
c.1000G= (p.Asp334=)
c.898G= (p.Asp300=)
n.1332-131C=
c.1078G= (p.Asp360=)
c.1180G= (p.Asp394=)
c.1120G= (p.Asp374=)
n.3607-131C=
n.4043-131C=
c.1003G= (p.Asp335=)
c.1021G= (p.Asp341=)
c.778G= (p.Asp260=)
c.811G= (p.Asp271=)
c.829G= (p.Asp277=)
2g.127428395G>TCA348404380PROCc.835G>T (p.Asp279Tyr)
c.159G>T
c.937G>T (p.Asp313Tyr)
c.1018G>T (p.Asp340Tyr)
c.1000G>T (p.Asp334Tyr)
c.898G>T (p.Asp300Tyr)
n.1332-131C>A
c.1078G>T (p.Asp360Tyr)
c.1180G>T (p.Asp394Tyr)
c.1120G>T (p.Asp374Tyr)
n.3607-131C>A
n.4043-131C>A
c.1003G>T (p.Asp335Tyr)
c.1021G>T (p.Asp341Tyr)
c.778G>T (p.Asp260Tyr)
c.811G>T (p.Asp271Tyr)
c.829G>T (p.Asp277Tyr)
2g.127428396A>CCA348404384PROCc.836A>C (p.Asp279Ala)
c.160A>C
c.938A>C (p.Asp313Ala)
c.1019A>C (p.Asp340Ala)
c.1001A>C (p.Asp334Ala)
c.899A>C (p.Asp300Ala)
n.1332-132T>G
c.1079A>C (p.Asp360Ala)
c.1181A>C (p.Asp394Ala)
c.1121A>C (p.Asp374Ala)
n.3607-132T>G
n.4043-132T>G
c.1004A>C (p.Asp335Ala)
c.1022A>C (p.Asp341Ala)
c.779A>C (p.Asp260Ala)
c.812A>C (p.Asp271Ala)
c.830A>C (p.Asp277Ala)
2g.127428396A>GCA348404386PROCc.836A>G (p.Asp279Gly)
c.160A>G
c.938A>G (p.Asp313Gly)
c.1019A>G (p.Asp340Gly)
c.1001A>G (p.Asp334Gly)
c.899A>G (p.Asp300Gly)
n.1332-132T>C
c.1079A>G (p.Asp360Gly)
c.1181A>G (p.Asp394Gly)
c.1121A>G (p.Asp374Gly)
n.3607-132T>C
n.4043-132T>C
c.1004A>G (p.Asp335Gly)
c.1022A>G (p.Asp341Gly)
c.779A>G (p.Asp260Gly)
c.812A>G (p.Asp271Gly)
c.830A>G (p.Asp277Gly)
2g.127428396A>TCA348404382PROCc.836A>T (p.Asp279Val)
c.160A>T
c.938A>T (p.Asp313Val)
c.1019A>T (p.Asp340Val)
c.1001A>T (p.Asp334Val)
c.899A>T (p.Asp300Val)
n.1332-132T>A
c.1079A>T (p.Asp360Val)
c.1181A>T (p.Asp394Val)
c.1121A>T (p.Asp374Val)
n.3607-132T>A
n.4043-132T>A
c.1004A>T (p.Asp335Val)
c.1022A>T (p.Asp341Val)
c.779A>T (p.Asp260Val)
c.812A>T (p.Asp271Val)
c.830A>T (p.Asp277Val)
2g.127428397C>ACA348404388PROCc.837C>A (p.Asp279Glu)
c.161C>A
c.939C>A (p.Asp313Glu)
c.1020C>A (p.Asp340Glu)
c.1002C>A (p.Asp334Glu)
c.900C>A (p.Asp300Glu)
n.1332-133G>T
c.1080C>A (p.Asp360Glu)
c.1182C>A (p.Asp394Glu)
c.1122C>A (p.Asp374Glu)
n.3607-133G>T
n.4043-133G>T
c.1005C>A (p.Asp335Glu)
c.1023C>A (p.Asp341Glu)
c.780C>A (p.Asp260Glu)
c.813C>A (p.Asp271Glu)
c.831C>A (p.Asp277Glu)
 ClinVar gnomAD v4 COSMIC
2g.127428397C=CA1286884448PROCc.837C= (p.Asp279=)
c.161C=
c.939C= (p.Asp313=)
c.1020C= (p.Asp340=)
c.1002C= (p.Asp334=)
c.900C= (p.Asp300=)
n.1332-133G=
c.1080C= (p.Asp360=)
c.1182C= (p.Asp394=)
c.1122C= (p.Asp374=)
n.3607-133G=
n.4043-133G=
c.1005C= (p.Asp335=)
c.1023C= (p.Asp341=)
c.780C= (p.Asp260=)
c.813C= (p.Asp271=)
c.831C= (p.Asp277=)
2g.127428397C>GCA348404390PROCc.837C>G (p.Asp279Glu)
c.161C>G
c.939C>G (p.Asp313Glu)
c.1020C>G (p.Asp340Glu)
c.1002C>G (p.Asp334Glu)
c.900C>G (p.Asp300Glu)
n.1332-133G>C
c.1080C>G (p.Asp360Glu)
c.1182C>G (p.Asp394Glu)
c.1122C>G (p.Asp374Glu)
n.3607-133G>C
n.4043-133G>C
c.1005C>G (p.Asp335Glu)
c.1023C>G (p.Asp341Glu)
c.780C>G (p.Asp260Glu)
c.813C>G (p.Asp271Glu)
c.831C>G (p.Asp277Glu)
2g.127428397C>TCA1859469PROCc.837C>T (p.Asp279=)
c.161C>T
c.939C>T (p.Asp313=)
c.1020C>T (p.Asp340=)
c.1002C>T (p.Asp334=)
c.900C>T (p.Asp300=)
n.1332-133G>A
c.1080C>T (p.Asp360=)
c.1182C>T (p.Asp394=)
c.1122C>T (p.Asp374=)
n.3607-133G>A
n.4043-133G>A
c.1005C>T (p.Asp335=)
c.1023C>T (p.Asp341=)
c.780C>T (p.Asp260=)
c.813C>T (p.Asp271=)
c.831C>T (p.Asp277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428398C>ACA348404393PROCc.838C>A (p.Leu280Met)
c.162C>A
c.940C>A (p.Leu314Met)
c.1021C>A (p.Leu341Met)
c.1003C>A (p.Leu335Met)
c.901C>A (p.Leu301Met)
n.1332-134G>T
c.1081C>A (p.Leu361Met)
c.1183C>A (p.Leu395Met)
c.1123C>A (p.Leu375Met)
n.3607-134G>T
n.4043-134G>T
c.1006C>A (p.Leu336Met)
c.1024C>A (p.Leu342Met)
c.781C>A (p.Leu261Met)
c.814C>A (p.Leu272Met)
c.832C>A (p.Leu278Met)
2g.127428398C>GCA348404394PROCc.838C>G (p.Leu280Val)
c.162C>G
c.940C>G (p.Leu314Val)
c.1021C>G (p.Leu341Val)
c.1003C>G (p.Leu335Val)
c.901C>G (p.Leu301Val)
n.1332-134G>C
c.1081C>G (p.Leu361Val)
c.1183C>G (p.Leu395Val)
c.1123C>G (p.Leu375Val)
n.3607-134G>C
n.4043-134G>C
c.1006C>G (p.Leu336Val)
c.1024C>G (p.Leu342Val)
c.781C>G (p.Leu261Val)
c.814C>G (p.Leu272Val)
c.832C>G (p.Leu278Val)
 gnomAD v4
2g.127428398C>TCA428618879PROCc.838C>T (p.Leu280=)
c.162C>T
c.940C>T (p.Leu314=)
c.1021C>T (p.Leu341=)
c.1003C>T (p.Leu335=)
c.901C>T (p.Leu301=)
n.1332-134G>A
c.1081C>T (p.Leu361=)
c.1183C>T (p.Leu395=)
c.1123C>T (p.Leu375=)
n.3607-134G>A
n.4043-134G>A
c.1006C>T (p.Leu336=)
c.1024C>T (p.Leu342=)
c.781C>T (p.Leu261=)
c.814C>T (p.Leu272=)
c.832C>T (p.Leu278=)
2g.127428399T>ACA348404400PROCc.839T>A (p.Leu280Gln)
c.163T>A
c.941T>A (p.Leu314Gln)
c.1022T>A (p.Leu341Gln)
c.1004T>A (p.Leu335Gln)
c.902T>A (p.Leu301Gln)
n.1332-135A>T
c.1082T>A (p.Leu361Gln)
c.1184T>A (p.Leu395Gln)
c.1124T>A (p.Leu375Gln)
n.3607-135A>T
n.4043-135A>T
c.1007T>A (p.Leu336Gln)
c.1025T>A (p.Leu342Gln)
c.782T>A (p.Leu261Gln)
c.815T>A (p.Leu272Gln)
c.833T>A (p.Leu278Gln)
2g.127428399T>CCA348404396PROCc.839T>C (p.Leu280Pro)
c.163T>C
c.941T>C (p.Leu314Pro)
c.1022T>C (p.Leu341Pro)
c.1004T>C (p.Leu335Pro)
c.902T>C (p.Leu301Pro)
n.1332-135A>G
c.1082T>C (p.Leu361Pro)
c.1184T>C (p.Leu395Pro)
c.1124T>C (p.Leu375Pro)
n.3607-135A>G
n.4043-135A>G
c.1007T>C (p.Leu336Pro)
c.1025T>C (p.Leu342Pro)
c.782T>C (p.Leu261Pro)
c.815T>C (p.Leu272Pro)
c.833T>C (p.Leu278Pro)
 gnomAD v4
2g.127428399T>GCA348404398PROCc.839T>G (p.Leu280Arg)
c.163T>G
c.941T>G (p.Leu314Arg)
c.1022T>G (p.Leu341Arg)
c.1004T>G (p.Leu335Arg)
c.902T>G (p.Leu301Arg)
n.1332-135A>C
c.1082T>G (p.Leu361Arg)
c.1184T>G (p.Leu395Arg)
c.1124T>G (p.Leu375Arg)
n.3607-135A>C
n.4043-135A>C
c.1007T>G (p.Leu336Arg)
c.1025T>G (p.Leu342Arg)
c.782T>G (p.Leu261Arg)
c.815T>G (p.Leu272Arg)
c.833T>G (p.Leu278Arg)
2g.127428400G>ACA428618881PROCc.840G>A (p.Leu280=)
c.164G>A
c.942G>A (p.Leu314=)
c.1023G>A (p.Leu341=)
c.1005G>A (p.Leu335=)
c.903G>A (p.Leu301=)
n.1332-136C>T
c.1083G>A (p.Leu361=)
c.1185G>A (p.Leu395=)
c.1125G>A (p.Leu375=)
n.3607-136C>T
n.4043-136C>T
c.1008G>A (p.Leu336=)
c.1026G>A (p.Leu342=)
c.783G>A (p.Leu261=)
c.816G>A (p.Leu272=)
c.834G>A (p.Leu278=)
2g.127428400G>CCA428618882PROCc.840G>C (p.Leu280=)
c.164G>C
c.942G>C (p.Leu314=)
c.1023G>C (p.Leu341=)
c.1005G>C (p.Leu335=)
c.903G>C (p.Leu301=)
n.1332-136C>G
c.1083G>C (p.Leu361=)
c.1185G>C (p.Leu395=)
c.1125G>C (p.Leu375=)
n.3607-136C>G
n.4043-136C>G
c.1008G>C (p.Leu336=)
c.1026G>C (p.Leu342=)
c.783G>C (p.Leu261=)
c.816G>C (p.Leu272=)
c.834G>C (p.Leu278=)
2g.127428400G>TCA428618883PROCc.840G>T (p.Leu280=)
c.164G>T
c.942G>T (p.Leu314=)
c.1023G>T (p.Leu341=)
c.1005G>T (p.Leu335=)
c.903G>T (p.Leu301=)
n.1332-136C>A
c.1083G>T (p.Leu361=)
c.1185G>T (p.Leu395=)
c.1125G>T (p.Leu375=)
n.3607-136C>A
n.4043-136C>A
c.1008G>T (p.Leu336=)
c.1026G>T (p.Leu342=)
c.783G>T (p.Leu261=)
c.816G>T (p.Leu272=)
c.834G>T (p.Leu278=)
2g.127428401G>ACA348404402PROCc.841G>A (p.Asp281Asn)
c.165G>A
c.943G>A (p.Asp315Asn)
c.1024G>A (p.Asp342Asn)
c.1006G>A (p.Asp336Asn)
c.904G>A (p.Asp302Asn)
n.1332-137C>T
c.1084G>A (p.Asp362Asn)
c.1186G>A (p.Asp396Asn)
c.1126G>A (p.Asp376Asn)
n.3607-137C>T
n.4043-137C>T
c.1009G>A (p.Asp337Asn)
c.1027G>A (p.Asp343Asn)
c.784G>A (p.Asp262Asn)
c.817G>A (p.Asp273Asn)
c.835G>A (p.Asp279Asn)
 gnomAD v4
2g.127428401G>CCA348404404PROCc.841G>C (p.Asp281His)
c.165G>C
c.943G>C (p.Asp315His)
c.1024G>C (p.Asp342His)
c.1006G>C (p.Asp336His)
c.904G>C (p.Asp302His)
n.1332-137C>G
c.1084G>C (p.Asp362His)
c.1186G>C (p.Asp396His)
c.1126G>C (p.Asp376His)
n.3607-137C>G
n.4043-137C>G
c.1009G>C (p.Asp337His)
c.1027G>C (p.Asp343His)
c.784G>C (p.Asp262His)
c.817G>C (p.Asp273His)
c.835G>C (p.Asp279His)
2g.127428401G>TCA348404406PROCc.841G>T (p.Asp281Tyr)
c.165G>T
c.943G>T (p.Asp315Tyr)
c.1024G>T (p.Asp342Tyr)
c.1006G>T (p.Asp336Tyr)
c.904G>T (p.Asp302Tyr)
n.1332-137C>A
c.1084G>T (p.Asp362Tyr)
c.1186G>T (p.Asp396Tyr)
c.1126G>T (p.Asp376Tyr)
n.3607-137C>A
n.4043-137C>A
c.1009G>T (p.Asp337Tyr)
c.1027G>T (p.Asp343Tyr)
c.784G>T (p.Asp262Tyr)
c.817G>T (p.Asp273Tyr)
c.835G>T (p.Asp279Tyr)
2g.127428402A=CA1286884449PROCc.842A= (p.Asp281=)
c.166A=
c.944A= (p.Asp315=)
c.1025A= (p.Asp342=)
c.1007A= (p.Asp336=)
c.905A= (p.Asp302=)
n.1332-138T=
c.1085A= (p.Asp362=)
c.1187A= (p.Asp396=)
c.1127A= (p.Asp376=)
n.3607-138T=
n.4043-138T=
c.1010A= (p.Asp337=)
c.1028A= (p.Asp343=)
c.785A= (p.Asp262=)
c.818A= (p.Asp273=)
c.836A= (p.Asp279=)
2g.127428402A>CCA348404408PROCc.842A>C (p.Asp281Ala)
c.166A>C
c.944A>C (p.Asp315Ala)
c.1025A>C (p.Asp342Ala)
c.1007A>C (p.Asp336Ala)
c.905A>C (p.Asp302Ala)
n.1332-138T>G
c.1085A>C (p.Asp362Ala)
c.1187A>C (p.Asp396Ala)
c.1127A>C (p.Asp376Ala)
n.3607-138T>G
n.4043-138T>G
c.1010A>C (p.Asp337Ala)
c.1028A>C (p.Asp343Ala)
c.785A>C (p.Asp262Ala)
c.818A>C (p.Asp273Ala)
c.836A>C (p.Asp279Ala)
2g.127428402A>GCA348404410PROCc.842A>G (p.Asp281Gly)
c.166A>G
c.944A>G (p.Asp315Gly)
c.1025A>G (p.Asp342Gly)
c.1007A>G (p.Asp336Gly)
c.905A>G (p.Asp302Gly)
n.1332-138T>C
c.1085A>G (p.Asp362Gly)
c.1187A>G (p.Asp396Gly)
c.1127A>G (p.Asp376Gly)
n.3607-138T>C
n.4043-138T>C
c.1010A>G (p.Asp337Gly)
c.1028A>G (p.Asp343Gly)
c.785A>G (p.Asp262Gly)
c.818A>G (p.Asp273Gly)
c.836A>G (p.Asp279Gly)
2g.127428402A>TCA1859470PROCc.842A>T (p.Asp281Val)
c.166A>T
c.944A>T (p.Asp315Val)
c.1025A>T (p.Asp342Val)
c.1007A>T (p.Asp336Val)
c.905A>T (p.Asp302Val)
n.1332-138T>A
c.1085A>T (p.Asp362Val)
c.1187A>T (p.Asp396Val)
c.1127A>T (p.Asp376Val)
n.3607-138T>A
n.4043-138T>A
c.1010A>T (p.Asp337Val)
c.1028A>T (p.Asp343Val)
c.785A>T (p.Asp262Val)
c.818A>T (p.Asp273Val)
c.836A>T (p.Asp279Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428403C>ACA348404415PROCc.843C>A (p.Asp281Glu)
c.167C>A
c.945C>A (p.Asp315Glu)
c.1026C>A (p.Asp342Glu)
c.1008C>A (p.Asp336Glu)
c.906C>A (p.Asp302Glu)
n.1332-139G>T
c.1086C>A (p.Asp362Glu)
c.1188C>A (p.Asp396Glu)
c.1128C>A (p.Asp376Glu)
n.3607-139G>T
n.4043-139G>T
c.1011C>A (p.Asp337Glu)
c.1029C>A (p.Asp343Glu)
c.786C>A (p.Asp262Glu)
c.819C>A (p.Asp273Glu)
c.837C>A (p.Asp279Glu)
2g.127428403C>GCA348404413PROCc.843C>G (p.Asp281Glu)
c.167C>G
c.945C>G (p.Asp315Glu)
c.1026C>G (p.Asp342Glu)
c.1008C>G (p.Asp336Glu)
c.906C>G (p.Asp302Glu)
n.1332-139G>C
c.1086C>G (p.Asp362Glu)
c.1188C>G (p.Asp396Glu)
c.1128C>G (p.Asp376Glu)
n.3607-139G>C
n.4043-139G>C
c.1011C>G (p.Asp337Glu)
c.1029C>G (p.Asp343Glu)
c.786C>G (p.Asp262Glu)
c.819C>G (p.Asp273Glu)
c.837C>G (p.Asp279Glu)
2g.127428403C>TCA428618884PROCc.843C>T (p.Asp281=)
c.167C>T
c.945C>T (p.Asp315=)
c.1026C>T (p.Asp342=)
c.1008C>T (p.Asp336=)
c.906C>T (p.Asp302=)
n.1332-139G>A
c.1086C>T (p.Asp362=)
c.1188C>T (p.Asp396=)
c.1128C>T (p.Asp376=)
n.3607-139G>A
n.4043-139G>A
c.1011C>T (p.Asp337=)
c.1029C>T (p.Asp343=)
c.786C>T (p.Asp262=)
c.819C>T (p.Asp273=)
c.837C>T (p.Asp279=)
 gnomAD v4
2g.127428404A>CCA348404418PROCc.844A>C (p.Ile282Leu)
c.168A>C
c.946A>C (p.Ile316Leu)
c.1027A>C (p.Ile343Leu)
c.1009A>C (p.Ile337Leu)
c.907A>C (p.Ile303Leu)
n.1332-140T>G
c.1087A>C (p.Ile363Leu)
c.1189A>C (p.Ile397Leu)
c.1129A>C (p.Ile377Leu)
n.3607-140T>G
n.4043-140T>G
c.1012A>C (p.Ile338Leu)
c.1030A>C (p.Ile344Leu)
c.787A>C (p.Ile263Leu)
c.820A>C (p.Ile274Leu)
c.838A>C (p.Ile280Leu)
2g.127428404A>GCA348404421PROCc.844A>G (p.Ile282Val)
c.168A>G
c.946A>G (p.Ile316Val)
c.1027A>G (p.Ile343Val)
c.1009A>G (p.Ile337Val)
c.907A>G (p.Ile303Val)
n.1332-140T>C
c.1087A>G (p.Ile363Val)
c.1189A>G (p.Ile397Val)
c.1129A>G (p.Ile377Val)
n.3607-140T>C
n.4043-140T>C
c.1012A>G (p.Ile338Val)
c.1030A>G (p.Ile344Val)
c.787A>G (p.Ile263Val)
c.820A>G (p.Ile274Val)
c.838A>G (p.Ile280Val)
 gnomAD v4
2g.127428404A>TCA348404419PROCc.844A>T (p.Ile282Phe)
c.168A>T
c.946A>T (p.Ile316Phe)
c.1027A>T (p.Ile343Phe)
c.1009A>T (p.Ile337Phe)
c.907A>T (p.Ile303Phe)
n.1332-140T>A
c.1087A>T (p.Ile363Phe)
c.1189A>T (p.Ile397Phe)
c.1129A>T (p.Ile377Phe)
n.3607-140T>A
n.4043-140T>A
c.1012A>T (p.Ile338Phe)
c.1030A>T (p.Ile344Phe)
c.787A>T (p.Ile263Phe)
c.820A>T (p.Ile274Phe)
c.838A>T (p.Ile280Phe)
2g.127428405T>ACA348404423PROCc.845T>A (p.Ile282Asn)
c.169T>A
c.947T>A (p.Ile316Asn)
c.1028T>A (p.Ile343Asn)
c.1010T>A (p.Ile337Asn)
c.908T>A (p.Ile303Asn)
n.1332-141A>T
c.1088T>A (p.Ile363Asn)
c.1190T>A (p.Ile397Asn)
c.1130T>A (p.Ile377Asn)
n.3607-141A>T
n.4043-141A>T
c.1013T>A (p.Ile338Asn)
c.1031T>A (p.Ile344Asn)
c.788T>A (p.Ile263Asn)
c.821T>A (p.Ile274Asn)
c.839T>A (p.Ile280Asn)
2g.127428405T>CCA348404425PROCc.845T>C (p.Ile282Thr)
c.169T>C
c.947T>C (p.Ile316Thr)
c.1028T>C (p.Ile343Thr)
c.1010T>C (p.Ile337Thr)
c.908T>C (p.Ile303Thr)
n.1332-141A>G
c.1088T>C (p.Ile363Thr)
c.1190T>C (p.Ile397Thr)
c.1130T>C (p.Ile377Thr)
n.3607-141A>G
n.4043-141A>G
c.1013T>C (p.Ile338Thr)
c.1031T>C (p.Ile344Thr)
c.788T>C (p.Ile263Thr)
c.821T>C (p.Ile274Thr)
c.839T>C (p.Ile280Thr)
2g.127428405T>GCA348404427PROCc.845T>G (p.Ile282Ser)
c.169T>G
c.947T>G (p.Ile316Ser)
c.1028T>G (p.Ile343Ser)
c.1010T>G (p.Ile337Ser)
c.908T>G (p.Ile303Ser)
n.1332-141A>C
c.1088T>G (p.Ile363Ser)
c.1190T>G (p.Ile397Ser)
c.1130T>G (p.Ile377Ser)
n.3607-141A>C
n.4043-141A>C
c.1013T>G (p.Ile338Ser)
c.1031T>G (p.Ile344Ser)
c.788T>G (p.Ile263Ser)
c.821T>G (p.Ile274Ser)
c.839T>G (p.Ile280Ser)
2g.127428406C>ACA428618885PROCc.846C>A (p.Ile282=)
c.170C>A
c.948C>A (p.Ile316=)
c.1029C>A (p.Ile343=)
c.1011C>A (p.Ile337=)
c.909C>A (p.Ile303=)
n.1332-142G>T
c.1089C>A (p.Ile363=)
c.1191C>A (p.Ile397=)
c.1131C>A (p.Ile377=)
n.3607-142G>T
n.4043-142G>T
c.1014C>A (p.Ile338=)
c.1032C>A (p.Ile344=)
c.789C>A (p.Ile263=)
c.822C>A (p.Ile274=)
c.840C>A (p.Ile280=)
2g.127428406C>GCA348404429PROCc.846C>G (p.Ile282Met)
c.170C>G
c.948C>G (p.Ile316Met)
c.1029C>G (p.Ile343Met)
c.1011C>G (p.Ile337Met)
c.909C>G (p.Ile303Met)
n.1332-142G>C
c.1089C>G (p.Ile363Met)
c.1191C>G (p.Ile397Met)
c.1131C>G (p.Ile377Met)
n.3607-142G>C
n.4043-142G>C
c.1014C>G (p.Ile338Met)
c.1032C>G (p.Ile344Met)
c.789C>G (p.Ile263Met)
c.822C>G (p.Ile274Met)
c.840C>G (p.Ile280Met)
2g.127428406C>TCA428618886PROCc.846C>T (p.Ile282=)
c.170C>T
c.948C>T (p.Ile316=)
c.1029C>T (p.Ile343=)
c.1011C>T (p.Ile337=)
c.909C>T (p.Ile303=)
n.1332-142G>A
c.1089C>T (p.Ile363=)
c.1191C>T (p.Ile397=)
c.1131C>T (p.Ile377=)
n.3607-142G>A
n.4043-142G>A
c.1014C>T (p.Ile338=)
c.1032C>T (p.Ile344=)
c.789C>T (p.Ile263=)
c.822C>T (p.Ile274=)
c.840C>T (p.Ile280=)
2g.127428407A=CA1286884451PROCc.847A= (p.Lys283=)
c.171A=
c.949A= (p.Lys317=)
c.1030A= (p.Lys344=)
c.1012A= (p.Lys338=)
c.910A= (p.Lys304=)
n.1332-143T=
c.1090A= (p.Lys364=)
c.1192A= (p.Lys398=)
c.1132A= (p.Lys378=)
n.3607-143T=
n.4043-143T=
c.1015A= (p.Lys339=)
c.1033A= (p.Lys345=)
c.790A= (p.Lys264=)
c.823A= (p.Lys275=)
c.841A= (p.Lys281=)
2g.127428407A>CCA348404432PROCc.847A>C (p.Lys283Gln)
c.171A>C
c.949A>C (p.Lys317Gln)
c.1030A>C (p.Lys344Gln)
c.1012A>C (p.Lys338Gln)
c.910A>C (p.Lys304Gln)
n.1332-143T>G
c.1090A>C (p.Lys364Gln)
c.1192A>C (p.Lys398Gln)
c.1132A>C (p.Lys378Gln)
n.3607-143T>G
n.4043-143T>G
c.1015A>C (p.Lys339Gln)
c.1033A>C (p.Lys345Gln)
c.790A>C (p.Lys264Gln)
c.823A>C (p.Lys275Gln)
c.841A>C (p.Lys281Gln)
2g.127428407A>GCA348404433PROCc.847A>G (p.Lys283Glu)
c.171A>G
c.949A>G (p.Lys317Glu)
c.1030A>G (p.Lys344Glu)
c.1012A>G (p.Lys338Glu)
c.910A>G (p.Lys304Glu)
n.1332-143T>C
c.1090A>G (p.Lys364Glu)
c.1192A>G (p.Lys398Glu)
c.1132A>G (p.Lys378Glu)
n.3607-143T>C
n.4043-143T>C
c.1015A>G (p.Lys339Glu)
c.1033A>G (p.Lys345Glu)
c.790A>G (p.Lys264Glu)
c.823A>G (p.Lys275Glu)
c.841A>G (p.Lys281Glu)
 dbSNP gnomAD v4
2g.127428407A>TCA348404436PROCc.847A>T (p.Lys283Ter)
c.171A>T
c.949A>T (p.Lys317Ter)
c.1030A>T (p.Lys344Ter)
c.1012A>T (p.Lys338Ter)
c.910A>T (p.Lys304Ter)
n.1332-143T>A
c.1090A>T (p.Lys364Ter)
c.1192A>T (p.Lys398Ter)
c.1132A>T (p.Lys378Ter)
n.3607-143T>A
n.4043-143T>A
c.1015A>T (p.Lys339Ter)
c.1033A>T (p.Lys345Ter)
c.790A>T (p.Lys264Ter)
c.823A>T (p.Lys275Ter)
c.841A>T (p.Lys281Ter)
2g.127428407_127428410delinsAAGGCA1286884450PROCc.847_850delinsAAGG (p.Lys283=)
c.171_174delinsAAGG
c.949_952delinsAAGG (p.Lys317=)
c.1030_1033delinsAAGG (p.Lys344=)
c.1012_1015delinsAAGG (p.Lys338=)
c.910_913delinsAAGG (p.Lys304=)
n.1332-146_1332-143delinsCCTT
c.1090_1093delinsAAGG (p.Lys364=)
c.1192_1195delinsAAGG (p.Lys398=)
c.1132_1135delinsAAGG (p.Lys378=)
n.3607-146_3607-143delinsCCTT
n.4043-146_4043-143delinsCCTT
c.1015_1018delinsAAGG (p.Lys339=)
c.1033_1036delinsAAGG (p.Lys345=)
c.790_793delinsAAGG (p.Lys264=)
c.823_826delinsAAGG (p.Lys275=)
c.841_844delinsAAGG (p.Lys281=)
2g.127428408A>CCA348404438PROCc.848A>C (p.Lys283Thr)
c.172A>C
c.950A>C (p.Lys317Thr)
c.1031A>C (p.Lys344Thr)
c.1013A>C (p.Lys338Thr)
c.911A>C (p.Lys304Thr)
n.1332-144T>G
c.1091A>C (p.Lys364Thr)
c.1193A>C (p.Lys398Thr)
c.1133A>C (p.Lys378Thr)
n.3607-144T>G
n.4043-144T>G
c.1016A>C (p.Lys339Thr)
c.1034A>C (p.Lys345Thr)
c.791A>C (p.Lys264Thr)
c.824A>C (p.Lys275Thr)
c.842A>C (p.Lys281Thr)
2g.127428408A>GCA348404440PROCc.848A>G (p.Lys283Arg)
c.172A>G
c.950A>G (p.Lys317Arg)
c.1031A>G (p.Lys344Arg)
c.1013A>G (p.Lys338Arg)
c.911A>G (p.Lys304Arg)
n.1332-144T>C
c.1091A>G (p.Lys364Arg)
c.1193A>G (p.Lys398Arg)
c.1133A>G (p.Lys378Arg)
n.3607-144T>C
n.4043-144T>C
c.1016A>G (p.Lys339Arg)
c.1034A>G (p.Lys345Arg)
c.791A>G (p.Lys264Arg)
c.824A>G (p.Lys275Arg)
c.842A>G (p.Lys281Arg)
2g.127428408A>TCA348404442PROCc.848A>T (p.Lys283Met)
c.172A>T
c.950A>T (p.Lys317Met)
c.1031A>T (p.Lys344Met)
c.1013A>T (p.Lys338Met)
c.911A>T (p.Lys304Met)
n.1332-144T>A
c.1091A>T (p.Lys364Met)
c.1193A>T (p.Lys398Met)
c.1133A>T (p.Lys378Met)
n.3607-144T>A
n.4043-144T>A
c.1016A>T (p.Lys339Met)
c.1034A>T (p.Lys345Met)
c.791A>T (p.Lys264Met)
c.824A>T (p.Lys275Met)
c.842A>T (p.Lys281Met)
2g.127428411_127428413delCA1859471PROCc.851_853del (p.Glu284del)
c.175_177del
c.953_955del (p.Glu318del)
c.1034_1036del (p.Glu345del)
c.1016_1018del (p.Glu339del)
c.914_916del (p.Glu305del)
n.1332-146_1332-144del
c.1094_1096del (p.Glu365del)
c.1196_1198del (p.Glu399del)
c.1136_1138del (p.Glu379del)
n.3607-146_3607-144del
n.4043-146_4043-144del
c.1019_1021del (p.Glu340del)
c.1037_1039del (p.Glu346del)
c.794_796del (p.Glu265del)
c.827_829del (p.Glu276del)
c.845_847del (p.Glu282del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428409G>ACA428618887PROCc.849G>A (p.Lys283=)
c.173G>A
c.951G>A (p.Lys317=)
c.1032G>A (p.Lys344=)
c.1014G>A (p.Lys338=)
c.912G>A (p.Lys304=)
n.1332-145C>T
c.1092G>A (p.Lys364=)
c.1194G>A (p.Lys398=)
c.1134G>A (p.Lys378=)
n.3607-145C>T
n.4043-145C>T
c.1017G>A (p.Lys339=)
c.1035G>A (p.Lys345=)
c.792G>A (p.Lys264=)
c.825G>A (p.Lys275=)
c.843G>A (p.Lys281=)
 COSMIC COSMIC
2g.127428409G>CCA348404446PROCc.849G>C (p.Lys283Asn)
c.173G>C
c.951G>C (p.Lys317Asn)
c.1032G>C (p.Lys344Asn)
c.1014G>C (p.Lys338Asn)
c.912G>C (p.Lys304Asn)
n.1332-145C>G
c.1092G>C (p.Lys364Asn)
c.1194G>C (p.Lys398Asn)
c.1134G>C (p.Lys378Asn)
n.3607-145C>G
n.4043-145C>G
c.1017G>C (p.Lys339Asn)
c.1035G>C (p.Lys345Asn)
c.792G>C (p.Lys264Asn)
c.825G>C (p.Lys275Asn)
c.843G>C (p.Lys281Asn)
2g.127428409G=CA1286884452PROCc.849G= (p.Lys283=)
c.173G=
c.951G= (p.Lys317=)
c.1032G= (p.Lys344=)
c.1014G= (p.Lys338=)
c.912G= (p.Lys304=)
n.1332-145C=
c.1092G= (p.Lys364=)
c.1194G= (p.Lys398=)
c.1134G= (p.Lys378=)
n.3607-145C=
n.4043-145C=
c.1017G= (p.Lys339=)
c.1035G= (p.Lys345=)
c.792G= (p.Lys264=)
c.825G= (p.Lys275=)
c.843G= (p.Lys281=)
2g.127428409G>TCA1859472PROCc.849G>T (p.Lys283Asn)
c.173G>T
c.951G>T (p.Lys317Asn)
c.1032G>T (p.Lys344Asn)
c.1014G>T (p.Lys338Asn)
c.912G>T (p.Lys304Asn)
n.1332-145C>A
c.1092G>T (p.Lys364Asn)
c.1194G>T (p.Lys398Asn)
c.1134G>T (p.Lys378Asn)
n.3607-145C>A
n.4043-145C>A
c.1017G>T (p.Lys339Asn)
c.1035G>T (p.Lys345Asn)
c.792G>T (p.Lys264Asn)
c.825G>T (p.Lys275Asn)
c.843G>T (p.Lys281Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428410G>ACA348404449PROCc.850G>A (p.Glu284Lys)
c.174G>A
c.952G>A (p.Glu318Lys)
c.1033G>A (p.Glu345Lys)
c.1015G>A (p.Glu339Lys)
c.913G>A (p.Glu305Lys)
n.1332-146C>T
c.1093G>A (p.Glu365Lys)
c.1195G>A (p.Glu399Lys)
c.1135G>A (p.Glu379Lys)
n.3607-146C>T
n.4043-146C>T
c.1018G>A (p.Glu340Lys)
c.1036G>A (p.Glu346Lys)
c.793G>A (p.Glu265Lys)
c.826G>A (p.Glu276Lys)
c.844G>A (p.Glu282Lys)
 gnomAD v4
2g.127428410G>CCA348404450PROCc.850G>C (p.Glu284Gln)
c.174G>C
c.952G>C (p.Glu318Gln)
c.1033G>C (p.Glu345Gln)
c.1015G>C (p.Glu339Gln)
c.913G>C (p.Glu305Gln)
n.1332-146C>G
c.1093G>C (p.Glu365Gln)
c.1195G>C (p.Glu399Gln)
c.1135G>C (p.Glu379Gln)
n.3607-146C>G
n.4043-146C>G
c.1018G>C (p.Glu340Gln)
c.1036G>C (p.Glu346Gln)
c.793G>C (p.Glu265Gln)
c.826G>C (p.Glu276Gln)
c.844G>C (p.Glu282Gln)
2g.127428410G>TCA348404452PROCc.850G>T (p.Glu284Ter)
c.174G>T
c.952G>T (p.Glu318Ter)
c.1033G>T (p.Glu345Ter)
c.1015G>T (p.Glu339Ter)
c.913G>T (p.Glu305Ter)
n.1332-146C>A
c.1093G>T (p.Glu365Ter)
c.1195G>T (p.Glu399Ter)
c.1135G>T (p.Glu379Ter)
n.3607-146C>A
n.4043-146C>A
c.1018G>T (p.Glu340Ter)
c.1036G>T (p.Glu346Ter)
c.793G>T (p.Glu265Ter)
c.826G>T (p.Glu276Ter)
c.844G>T (p.Glu282Ter)
2g.127428411A>CCA348404454PROCc.851A>C (p.Glu284Ala)
c.175A>C
c.953A>C (p.Glu318Ala)
c.1034A>C (p.Glu345Ala)
c.1016A>C (p.Glu339Ala)
c.914A>C (p.Glu305Ala)
n.1332-147T>G
c.1094A>C (p.Glu365Ala)
c.1196A>C (p.Glu399Ala)
c.1136A>C (p.Glu379Ala)
n.3607-147T>G
n.4043-147T>G
c.1019A>C (p.Glu340Ala)
c.1037A>C (p.Glu346Ala)
c.794A>C (p.Glu265Ala)
c.827A>C (p.Glu276Ala)
c.845A>C (p.Glu282Ala)
2g.127428411A>GCA348404456PROCc.851A>G (p.Glu284Gly)
c.175A>G
c.953A>G (p.Glu318Gly)
c.1034A>G (p.Glu345Gly)
c.1016A>G (p.Glu339Gly)
c.914A>G (p.Glu305Gly)
n.1332-147T>C
c.1094A>G (p.Glu365Gly)
c.1196A>G (p.Glu399Gly)
c.1136A>G (p.Glu379Gly)
n.3607-147T>C
n.4043-147T>C
c.1019A>G (p.Glu340Gly)
c.1037A>G (p.Glu346Gly)
c.794A>G (p.Glu265Gly)
c.827A>G (p.Glu276Gly)
c.845A>G (p.Glu282Gly)
2g.127428411A>TCA348404458PROCc.851A>T (p.Glu284Val)
c.175A>T
c.953A>T (p.Glu318Val)
c.1034A>T (p.Glu345Val)
c.1016A>T (p.Glu339Val)
c.914A>T (p.Glu305Val)
n.1332-147T>A
c.1094A>T (p.Glu365Val)
c.1196A>T (p.Glu399Val)
c.1136A>T (p.Glu379Val)
n.3607-147T>A
n.4043-147T>A
c.1019A>T (p.Glu340Val)
c.1037A>T (p.Glu346Val)
c.794A>T (p.Glu265Val)
c.827A>T (p.Glu276Val)
c.845A>T (p.Glu282Val)
2g.127428412G>ACA1859473PROCc.852G>A (p.Glu284=)
c.176G>A
c.954G>A (p.Glu318=)
c.1035G>A (p.Glu345=)
c.1017G>A (p.Glu339=)
c.915G>A (p.Glu305=)
n.1332-148C>T
c.1095G>A (p.Glu365=)
c.1197G>A (p.Glu399=)
c.1137G>A (p.Glu379=)
n.3607-148C>T
n.4043-148C>T
c.1020G>A (p.Glu340=)
c.1038G>A (p.Glu346=)
c.795G>A (p.Glu265=)
c.828G>A (p.Glu276=)
c.846G>A (p.Glu282=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428412G>CCA348404461PROCc.852G>C (p.Glu284Asp)
c.176G>C
c.954G>C (p.Glu318Asp)
c.1035G>C (p.Glu345Asp)
c.1017G>C (p.Glu339Asp)
c.915G>C (p.Glu305Asp)
n.1332-148C>G
c.1095G>C (p.Glu365Asp)
c.1197G>C (p.Glu399Asp)
c.1137G>C (p.Glu379Asp)
n.3607-148C>G
n.4043-148C>G
c.1020G>C (p.Glu340Asp)
c.1038G>C (p.Glu346Asp)
c.795G>C (p.Glu265Asp)
c.828G>C (p.Glu276Asp)
c.846G>C (p.Glu282Asp)
2g.127428412G=CA1286884453PROCc.852G= (p.Glu284=)
c.176G=
c.954G= (p.Glu318=)
c.1035G= (p.Glu345=)
c.1017G= (p.Glu339=)
c.915G= (p.Glu305=)
n.1332-148C=
c.1095G= (p.Glu365=)
c.1197G= (p.Glu399=)
c.1137G= (p.Glu379=)
n.3607-148C=
n.4043-148C=
c.1020G= (p.Glu340=)
c.1038G= (p.Glu346=)
c.795G= (p.Glu265=)
c.828G= (p.Glu276=)
c.846G= (p.Glu282=)
2g.127428412G>TCA348404463PROCc.852G>T (p.Glu284Asp)
c.176G>T
c.954G>T (p.Glu318Asp)
c.1035G>T (p.Glu345Asp)
c.1017G>T (p.Glu339Asp)
c.915G>T (p.Glu305Asp)
n.1332-148C>A
c.1095G>T (p.Glu365Asp)
c.1197G>T (p.Glu399Asp)
c.1137G>T (p.Glu379Asp)
n.3607-148C>A
n.4043-148C>A
c.1020G>T (p.Glu340Asp)
c.1038G>T (p.Glu346Asp)
c.795G>T (p.Glu265Asp)
c.828G>T (p.Glu276Asp)
c.846G>T (p.Glu282Asp)
2g.127428413G>ACA348404466PROCc.853G>A (p.Val285Ile)
c.177G>A
c.955G>A (p.Val319Ile)
c.1036G>A (p.Val346Ile)
c.1018G>A (p.Val340Ile)
c.916G>A (p.Val306Ile)
n.1332-149C>T
c.1096G>A (p.Val366Ile)
c.1198G>A (p.Val400Ile)
c.1138G>A (p.Val380Ile)
n.3607-149C>T
n.4043-149C>T
c.1021G>A (p.Val341Ile)
c.1039G>A (p.Val347Ile)
c.796G>A (p.Val266Ile)
c.829G>A (p.Val277Ile)
c.847G>A (p.Val283Ile)
2g.127428413G>CCA348404467PROCc.853G>C (p.Val285Leu)
c.177G>C
c.955G>C (p.Val319Leu)
c.1036G>C (p.Val346Leu)
c.1018G>C (p.Val340Leu)
c.916G>C (p.Val306Leu)
n.1332-149C>G
c.1096G>C (p.Val366Leu)
c.1198G>C (p.Val400Leu)
c.1138G>C (p.Val380Leu)
n.3607-149C>G
n.4043-149C>G
c.1021G>C (p.Val341Leu)
c.1039G>C (p.Val347Leu)
c.796G>C (p.Val266Leu)
c.829G>C (p.Val277Leu)
c.847G>C (p.Val283Leu)
2g.127428413G>TCA348404469PROCc.853G>T (p.Val285Phe)
c.177G>T
c.955G>T (p.Val319Phe)
c.1036G>T (p.Val346Phe)
c.1018G>T (p.Val340Phe)
c.916G>T (p.Val306Phe)
n.1332-149C>A
c.1096G>T (p.Val366Phe)
c.1198G>T (p.Val400Phe)
c.1138G>T (p.Val380Phe)
n.3607-149C>A
n.4043-149C>A
c.1021G>T (p.Val341Phe)
c.1039G>T (p.Val347Phe)
c.796G>T (p.Val266Phe)
c.829G>T (p.Val277Phe)
c.847G>T (p.Val283Phe)
 gnomAD v4
2g.127428416_127428421delCA2660997776PROCc.856_861del (p.Phe286_Val287del)
c.180_185del
c.958_963del (p.Phe320_Val321del)
c.1039_1044del (p.Phe347_Val348del)
c.1021_1026del (p.Phe341_Val342del)
c.919_924del (p.Phe307_Val308del)
n.1332-154_1332-149del
c.1099_1104del (p.Phe367_Val368del)
c.1201_1206del (p.Phe401_Val402del)
c.1141_1146del (p.Phe381_Val382del)
n.3607-154_3607-149del
n.4043-154_4043-149del
c.1024_1029del (p.Phe342_Val343del)
c.1042_1047del (p.Phe348_Val349del)
c.799_804del (p.Phe267_Val268del)
c.832_837del (p.Phe278_Val279del)
c.850_855del (p.Phe284_Val285del)
 gnomAD v4
2g.127428414T>ACA348404473PROCc.854T>A (p.Val285Asp)
c.178T>A
c.956T>A (p.Val319Asp)
c.1037T>A (p.Val346Asp)
c.1019T>A (p.Val340Asp)
c.917T>A (p.Val306Asp)
n.1332-150A>T
c.1097T>A (p.Val366Asp)
c.1199T>A (p.Val400Asp)
c.1139T>A (p.Val380Asp)
n.3607-150A>T
n.4043-150A>T
c.1022T>A (p.Val341Asp)
c.1040T>A (p.Val347Asp)
c.797T>A (p.Val266Asp)
c.830T>A (p.Val277Asp)
c.848T>A (p.Val283Asp)
2g.127428414T>CCA348404475PROCc.854T>C (p.Val285Ala)
c.178T>C
c.956T>C (p.Val319Ala)
c.1037T>C (p.Val346Ala)
c.1019T>C (p.Val340Ala)
c.917T>C (p.Val306Ala)
n.1332-150A>G
c.1097T>C (p.Val366Ala)
c.1199T>C (p.Val400Ala)
c.1139T>C (p.Val380Ala)
n.3607-150A>G
n.4043-150A>G
c.1022T>C (p.Val341Ala)
c.1040T>C (p.Val347Ala)
c.797T>C (p.Val266Ala)
c.830T>C (p.Val277Ala)
c.848T>C (p.Val283Ala)
2g.127428414T>GCA348404472PROCc.854T>G (p.Val285Gly)
c.178T>G
c.956T>G (p.Val319Gly)
c.1037T>G (p.Val346Gly)
c.1019T>G (p.Val340Gly)
c.917T>G (p.Val306Gly)
n.1332-150A>C
c.1097T>G (p.Val366Gly)
c.1199T>G (p.Val400Gly)
c.1139T>G (p.Val380Gly)
n.3607-150A>C
n.4043-150A>C
c.1022T>G (p.Val341Gly)
c.1040T>G (p.Val347Gly)
c.797T>G (p.Val266Gly)
c.830T>G (p.Val277Gly)
c.848T>G (p.Val283Gly)
 dbSNP
2g.127428414T=CA1286884454PROCc.854T= (p.Val285=)
c.178T=
c.956T= (p.Val319=)
c.1037T= (p.Val346=)
c.1019T= (p.Val340=)
c.917T= (p.Val306=)
n.1332-150A=
c.1097T= (p.Val366=)
c.1199T= (p.Val400=)
c.1139T= (p.Val380=)
n.3607-150A=
n.4043-150A=
c.1022T= (p.Val341=)
c.1040T= (p.Val347=)
c.797T= (p.Val266=)
c.830T= (p.Val277=)
c.848T= (p.Val283=)
2g.127428415C>ACA428618889PROCc.855C>A (p.Val285=)
c.179C>A
c.957C>A (p.Val319=)
c.1038C>A (p.Val346=)
c.1020C>A (p.Val340=)
c.918C>A (p.Val306=)
n.1332-151G>T
c.1098C>A (p.Val366=)
c.1200C>A (p.Val400=)
c.1140C>A (p.Val380=)
n.3607-151G>T
n.4043-151G>T
c.1023C>A (p.Val341=)
c.1041C>A (p.Val347=)
c.798C>A (p.Val266=)
c.831C>A (p.Val277=)
c.849C>A (p.Val283=)
2g.127428415C>GCA428618890PROCc.855C>G (p.Val285=)
c.179C>G
c.957C>G (p.Val319=)
c.1038C>G (p.Val346=)
c.1020C>G (p.Val340=)
c.918C>G (p.Val306=)
n.1332-151G>C
c.1098C>G (p.Val366=)
c.1200C>G (p.Val400=)
c.1140C>G (p.Val380=)
n.3607-151G>C
n.4043-151G>C
c.1023C>G (p.Val341=)
c.1041C>G (p.Val347=)
c.798C>G (p.Val266=)
c.831C>G (p.Val277=)
c.849C>G (p.Val283=)
2g.127428415C>TCA428618888PROCc.855C>T (p.Val285=)
c.179C>T
c.957C>T (p.Val319=)
c.1038C>T (p.Val346=)
c.1020C>T (p.Val340=)
c.918C>T (p.Val306=)
n.1332-151G>A
c.1098C>T (p.Val366=)
c.1200C>T (p.Val400=)
c.1140C>T (p.Val380=)
n.3607-151G>A
n.4043-151G>A
c.1023C>T (p.Val341=)
c.1041C>T (p.Val347=)
c.798C>T (p.Val266=)
c.831C>T (p.Val277=)
c.849C>T (p.Val283=)
2g.127428416T>ACA348404477PROCc.856T>A (p.Phe286Ile)
c.180T>A
c.958T>A (p.Phe320Ile)
c.1039T>A (p.Phe347Ile)
c.1021T>A (p.Phe341Ile)
c.919T>A (p.Phe307Ile)
n.1332-152A>T
c.1099T>A (p.Phe367Ile)
c.1201T>A (p.Phe401Ile)
c.1141T>A (p.Phe381Ile)
n.3607-152A>T
n.4043-152A>T
c.1024T>A (p.Phe342Ile)
c.1042T>A (p.Phe348Ile)
c.799T>A (p.Phe267Ile)
c.832T>A (p.Phe278Ile)
c.850T>A (p.Phe284Ile)
2g.127428416T>CCA348404478PROCc.856T>C (p.Phe286Leu)
c.180T>C
c.958T>C (p.Phe320Leu)
c.1039T>C (p.Phe347Leu)
c.1021T>C (p.Phe341Leu)
c.919T>C (p.Phe307Leu)
n.1332-152A>G
c.1099T>C (p.Phe367Leu)
c.1201T>C (p.Phe401Leu)
c.1141T>C (p.Phe381Leu)
n.3607-152A>G
n.4043-152A>G
c.1024T>C (p.Phe342Leu)
c.1042T>C (p.Phe348Leu)
c.799T>C (p.Phe267Leu)
c.832T>C (p.Phe278Leu)
c.850T>C (p.Phe284Leu)
2g.127428416T>GCA348404481PROCc.856T>G (p.Phe286Val)
c.180T>G
c.958T>G (p.Phe320Val)
c.1039T>G (p.Phe347Val)
c.1021T>G (p.Phe341Val)
c.919T>G (p.Phe307Val)
n.1332-152A>C
c.1099T>G (p.Phe367Val)
c.1201T>G (p.Phe401Val)
c.1141T>G (p.Phe381Val)
n.3607-152A>C
n.4043-152A>C
c.1024T>G (p.Phe342Val)
c.1042T>G (p.Phe348Val)
c.799T>G (p.Phe267Val)
c.832T>G (p.Phe278Val)
c.850T>G (p.Phe284Val)
2g.127428417T>ACA348404483PROCc.857T>A (p.Phe286Tyr)
c.181T>A
c.959T>A (p.Phe320Tyr)
c.1040T>A (p.Phe347Tyr)
c.1022T>A (p.Phe341Tyr)
c.920T>A (p.Phe307Tyr)
n.1332-153A>T
c.1100T>A (p.Phe367Tyr)
c.1202T>A (p.Phe401Tyr)
c.1142T>A (p.Phe381Tyr)
n.3607-153A>T
n.4043-153A>T
c.1025T>A (p.Phe342Tyr)
c.1043T>A (p.Phe348Tyr)
c.800T>A (p.Phe267Tyr)
c.833T>A (p.Phe278Tyr)
c.851T>A (p.Phe284Tyr)
2g.127428417T>CCA348404485PROCc.857T>C (p.Phe286Ser)
c.181T>C
c.959T>C (p.Phe320Ser)
c.1040T>C (p.Phe347Ser)
c.1022T>C (p.Phe341Ser)
c.920T>C (p.Phe307Ser)
n.1332-153A>G
c.1100T>C (p.Phe367Ser)
c.1202T>C (p.Phe401Ser)
c.1142T>C (p.Phe381Ser)
n.3607-153A>G
n.4043-153A>G
c.1025T>C (p.Phe342Ser)
c.1043T>C (p.Phe348Ser)
c.800T>C (p.Phe267Ser)
c.833T>C (p.Phe278Ser)
c.851T>C (p.Phe284Ser)
 gnomAD v4
2g.127428417T>GCA348404487PROCc.857T>G (p.Phe286Cys)
c.181T>G
c.959T>G (p.Phe320Cys)
c.1040T>G (p.Phe347Cys)
c.1022T>G (p.Phe341Cys)
c.920T>G (p.Phe307Cys)
n.1332-153A>C
c.1100T>G (p.Phe367Cys)
c.1202T>G (p.Phe401Cys)
c.1142T>G (p.Phe381Cys)
n.3607-153A>C
n.4043-153A>C
c.1025T>G (p.Phe342Cys)
c.1043T>G (p.Phe348Cys)
c.800T>G (p.Phe267Cys)
c.833T>G (p.Phe278Cys)
c.851T>G (p.Phe284Cys)
2g.127428418C>ACA348404489PROCc.858C>A (p.Phe286Leu)
c.182C>A
c.960C>A (p.Phe320Leu)
c.1041C>A (p.Phe347Leu)
c.1023C>A (p.Phe341Leu)
c.921C>A (p.Phe307Leu)
n.1332-154G>T
c.1101C>A (p.Phe367Leu)
c.1203C>A (p.Phe401Leu)
c.1143C>A (p.Phe381Leu)
n.3607-154G>T
n.4043-154G>T
c.1026C>A (p.Phe342Leu)
c.1044C>A (p.Phe348Leu)
c.801C>A (p.Phe267Leu)
c.834C>A (p.Phe278Leu)
c.852C>A (p.Phe284Leu)
2g.127428418C=CA1286884455PROCc.858C= (p.Phe286=)
c.182C=
c.960C= (p.Phe320=)
c.1041C= (p.Phe347=)
c.1023C= (p.Phe341=)
c.921C= (p.Phe307=)
n.1332-154G=
c.1101C= (p.Phe367=)
c.1203C= (p.Phe401=)
c.1143C= (p.Phe381=)
n.3607-154G=
n.4043-154G=
c.1026C= (p.Phe342=)
c.1044C= (p.Phe348=)
c.801C= (p.Phe267=)
c.834C= (p.Phe278=)
c.852C= (p.Phe284=)
2g.127428418C>GCA348404491PROCc.858C>G (p.Phe286Leu)
c.182C>G
c.960C>G (p.Phe320Leu)
c.1041C>G (p.Phe347Leu)
c.1023C>G (p.Phe341Leu)
c.921C>G (p.Phe307Leu)
n.1332-154G>C
c.1101C>G (p.Phe367Leu)
c.1203C>G (p.Phe401Leu)
c.1143C>G (p.Phe381Leu)
n.3607-154G>C
n.4043-154G>C
c.1026C>G (p.Phe342Leu)
c.1044C>G (p.Phe348Leu)
c.801C>G (p.Phe267Leu)
c.834C>G (p.Phe278Leu)
c.852C>G (p.Phe284Leu)
2g.127428418C>TCA55350614PROCc.858C>T (p.Phe286=)
c.182C>T
c.960C>T (p.Phe320=)
c.1041C>T (p.Phe347=)
c.1023C>T (p.Phe341=)
c.921C>T (p.Phe307=)
n.1332-154G>A
c.1101C>T (p.Phe367=)
c.1203C>T (p.Phe401=)
c.1143C>T (p.Phe381=)
n.3607-154G>A
n.4043-154G>A
c.1026C>T (p.Phe342=)
c.1044C>T (p.Phe348=)
c.801C>T (p.Phe267=)
c.834C>T (p.Phe278=)
c.852C>T (p.Phe284=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428419G>ACA1859474PROCc.859G>A (p.Val287Ile)
c.183G>A
c.961G>A (p.Val321Ile)
c.1042G>A (p.Val348Ile)
c.1024G>A (p.Val342Ile)
c.922G>A (p.Val308Ile)
n.1332-155C>T
c.1102G>A (p.Val368Ile)
c.1204G>A (p.Val402Ile)
c.1144G>A (p.Val382Ile)
n.3607-155C>T
n.4043-155C>T
c.1027G>A (p.Val343Ile)
c.1045G>A (p.Val349Ile)
c.802G>A (p.Val268Ile)
c.835G>A (p.Val279Ile)
c.853G>A (p.Val285Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428419G>CCA348404494PROCc.859G>C (p.Val287Leu)
c.183G>C
c.961G>C (p.Val321Leu)
c.1042G>C (p.Val348Leu)
c.1024G>C (p.Val342Leu)
c.922G>C (p.Val308Leu)
n.1332-155C>G
c.1102G>C (p.Val368Leu)
c.1204G>C (p.Val402Leu)
c.1144G>C (p.Val382Leu)
n.3607-155C>G
n.4043-155C>G
c.1027G>C (p.Val343Leu)
c.1045G>C (p.Val349Leu)
c.802G>C (p.Val268Leu)
c.835G>C (p.Val279Leu)
c.853G>C (p.Val285Leu)
2g.127428419G=CA1286884456PROCc.859G= (p.Val287=)
c.183G=
c.961G= (p.Val321=)
c.1042G= (p.Val348=)
c.1024G= (p.Val342=)
c.922G= (p.Val308=)
n.1332-155C=
c.1102G= (p.Val368=)
c.1204G= (p.Val402=)
c.1144G= (p.Val382=)
n.3607-155C=
n.4043-155C=
c.1027G= (p.Val343=)
c.1045G= (p.Val349=)
c.802G= (p.Val268=)
c.835G= (p.Val279=)
c.853G= (p.Val285=)
2g.127428419G>TCA348404497PROCc.859G>T (p.Val287Phe)
c.183G>T
c.961G>T (p.Val321Phe)
c.1042G>T (p.Val348Phe)
c.1024G>T (p.Val342Phe)
c.922G>T (p.Val308Phe)
n.1332-155C>A
c.1102G>T (p.Val368Phe)
c.1204G>T (p.Val402Phe)
c.1144G>T (p.Val382Phe)
n.3607-155C>A
n.4043-155C>A
c.1027G>T (p.Val343Phe)
c.1045G>T (p.Val349Phe)
c.802G>T (p.Val268Phe)
c.835G>T (p.Val279Phe)
c.853G>T (p.Val285Phe)
2g.127428420T>ACA348404499PROCc.860T>A (p.Val287Asp)
c.184T>A
c.962T>A (p.Val321Asp)
c.1043T>A (p.Val348Asp)
c.1025T>A (p.Val342Asp)
c.923T>A (p.Val308Asp)
n.1332-156A>T
c.1103T>A (p.Val368Asp)
c.1205T>A (p.Val402Asp)
c.1145T>A (p.Val382Asp)
n.3607-156A>T
n.4043-156A>T
c.1028T>A (p.Val343Asp)
c.1046T>A (p.Val349Asp)
c.803T>A (p.Val268Asp)
c.836T>A (p.Val279Asp)
c.854T>A (p.Val285Asp)
2g.127428420T>CCA348404501PROCc.860T>C (p.Val287Ala)
c.184T>C
c.962T>C (p.Val321Ala)
c.1043T>C (p.Val348Ala)
c.1025T>C (p.Val342Ala)
c.923T>C (p.Val308Ala)
n.1332-156A>G
c.1103T>C (p.Val368Ala)
c.1205T>C (p.Val402Ala)
c.1145T>C (p.Val382Ala)
n.3607-156A>G
n.4043-156A>G
c.1028T>C (p.Val343Ala)
c.1046T>C (p.Val349Ala)
c.803T>C (p.Val268Ala)
c.836T>C (p.Val279Ala)
c.854T>C (p.Val285Ala)
2g.127428420T>GCA348404503PROCc.860T>G (p.Val287Gly)
c.184T>G
c.962T>G (p.Val321Gly)
c.1043T>G (p.Val348Gly)
c.1025T>G (p.Val342Gly)
c.923T>G (p.Val308Gly)
n.1332-156A>C
c.1103T>G (p.Val368Gly)
c.1205T>G (p.Val402Gly)
c.1145T>G (p.Val382Gly)
n.3607-156A>C
n.4043-156A>C
c.1028T>G (p.Val343Gly)
c.1046T>G (p.Val349Gly)
c.803T>G (p.Val268Gly)
c.836T>G (p.Val279Gly)
c.854T>G (p.Val285Gly)
2g.127428421C>ACA55350628PROCc.861C>A (p.Val287=)
c.185C>A
c.963C>A (p.Val321=)
c.1044C>A (p.Val348=)
c.1026C>A (p.Val342=)
c.924C>A (p.Val308=)
n.1332-157G>T
c.1104C>A (p.Val368=)
c.1206C>A (p.Val402=)
c.1146C>A (p.Val382=)
n.3607-157G>T
n.4043-157G>T
c.1029C>A (p.Val343=)
c.1047C>A (p.Val349=)
c.804C>A (p.Val268=)
c.837C>A (p.Val279=)
c.855C>A (p.Val285=)
 dbSNP gnomAD v4
2g.127428421C=CA1286884457PROCc.861C= (p.Val287=)
c.185C=
c.963C= (p.Val321=)
c.1044C= (p.Val348=)
c.1026C= (p.Val342=)
c.924C= (p.Val308=)
n.1332-157G=
c.1104C= (p.Val368=)
c.1206C= (p.Val402=)
c.1146C= (p.Val382=)
n.3607-157G=
n.4043-157G=
c.1029C= (p.Val343=)
c.1047C= (p.Val349=)
c.804C= (p.Val268=)
c.837C= (p.Val279=)
c.855C= (p.Val285=)
2g.127428421C>GCA428618891PROCc.861C>G (p.Val287=)
c.185C>G
c.963C>G (p.Val321=)
c.1044C>G (p.Val348=)
c.1026C>G (p.Val342=)
c.924C>G (p.Val308=)
n.1332-157G>C
c.1104C>G (p.Val368=)
c.1206C>G (p.Val402=)
c.1146C>G (p.Val382=)
n.3607-157G>C
n.4043-157G>C
c.1029C>G (p.Val343=)
c.1047C>G (p.Val349=)
c.804C>G (p.Val268=)
c.837C>G (p.Val279=)
c.855C>G (p.Val285=)
2g.127428421C>TCA428618892PROCc.861C>T (p.Val287=)
c.185C>T
c.963C>T (p.Val321=)
c.1044C>T (p.Val348=)
c.1026C>T (p.Val342=)
c.924C>T (p.Val308=)
n.1332-157G>A
c.1104C>T (p.Val368=)
c.1206C>T (p.Val402=)
c.1146C>T (p.Val382=)
n.3607-157G>A
n.4043-157G>A
c.1029C>T (p.Val343=)
c.1047C>T (p.Val349=)
c.804C>T (p.Val268=)
c.837C>T (p.Val279=)
c.855C>T (p.Val285=)
 dbSNP
2g.127428422C>ACA348404506PROCc.862C>A (p.His288Asn)
c.186C>A
c.964C>A (p.His322Asn)
c.1045C>A (p.His349Asn)
c.1027C>A (p.His343Asn)
c.925C>A (p.His309Asn)
n.1332-158G>T
c.1105C>A (p.His369Asn)
c.1207C>A (p.His403Asn)
c.1147C>A (p.His383Asn)
n.3607-158G>T
n.4043-158G>T
c.1030C>A (p.His344Asn)
c.1048C>A (p.His350Asn)
c.805C>A (p.His269Asn)
c.838C>A (p.His280Asn)
c.856C>A (p.His286Asn)
2g.127428422C=CA1286884458PROCc.862C= (p.His288=)
c.186C=
c.964C= (p.His322=)
c.1045C= (p.His349=)
c.1027C= (p.His343=)
c.925C= (p.His309=)
n.1332-158G=
c.1105C= (p.His369=)
c.1207C= (p.His403=)
c.1147C= (p.His383=)
n.3607-158G=
n.4043-158G=
c.1030C= (p.His344=)
c.1048C= (p.His350=)
c.805C= (p.His269=)
c.838C= (p.His280=)
c.856C= (p.His286=)
2g.127428422C>GCA348404508PROCc.862C>G (p.His288Asp)
c.186C>G
c.964C>G (p.His322Asp)
c.1045C>G (p.His349Asp)
c.1027C>G (p.His343Asp)
c.925C>G (p.His309Asp)
n.1332-158G>C
c.1105C>G (p.His369Asp)
c.1207C>G (p.His403Asp)
c.1147C>G (p.His383Asp)
n.3607-158G>C
n.4043-158G>C
c.1030C>G (p.His344Asp)
c.1048C>G (p.His350Asp)
c.805C>G (p.His269Asp)
c.838C>G (p.His280Asp)
c.856C>G (p.His286Asp)
2g.127428422C>TCA348404509PROCc.862C>T (p.His288Tyr)
c.186C>T
c.964C>T (p.His322Tyr)
c.1045C>T (p.His349Tyr)
c.1027C>T (p.His343Tyr)
c.925C>T (p.His309Tyr)
n.1332-158G>A
c.1105C>T (p.His369Tyr)
c.1207C>T (p.His403Tyr)
c.1147C>T (p.His383Tyr)
n.3607-158G>A
n.4043-158G>A
c.1030C>T (p.His344Tyr)
c.1048C>T (p.His350Tyr)
c.805C>T (p.His269Tyr)
c.838C>T (p.His280Tyr)
c.856C>T (p.His286Tyr)
 ClinVar dbSNP gnomAD v4
2g.127428423A=CA1286884459PROCc.863A= (p.His288=)
c.187A=
c.965A= (p.His322=)
c.1046A= (p.His349=)
c.1028A= (p.His343=)
c.926A= (p.His309=)
n.1332-159T=
c.1106A= (p.His369=)
c.1208A= (p.His403=)
c.1148A= (p.His383=)
n.3607-159T=
n.4043-159T=
c.1031A= (p.His344=)
c.1049A= (p.His350=)
c.806A= (p.His269=)
c.839A= (p.His280=)
c.857A= (p.His286=)
2g.127428423A>CCA348404512PROCc.863A>C (p.His288Pro)
c.187A>C
c.965A>C (p.His322Pro)
c.1046A>C (p.His349Pro)
c.1028A>C (p.His343Pro)
c.926A>C (p.His309Pro)
n.1332-159T>G
c.1106A>C (p.His369Pro)
c.1208A>C (p.His403Pro)
c.1148A>C (p.His383Pro)
n.3607-159T>G
n.4043-159T>G
c.1031A>C (p.His344Pro)
c.1049A>C (p.His350Pro)
c.806A>C (p.His269Pro)
c.839A>C (p.His280Pro)
c.857A>C (p.His286Pro)
 dbSNP
2g.127428423A>GCA348404514PROCc.863A>G (p.His288Arg)
c.187A>G
c.965A>G (p.His322Arg)
c.1046A>G (p.His349Arg)
c.1028A>G (p.His343Arg)
c.926A>G (p.His309Arg)
n.1332-159T>C
c.1106A>G (p.His369Arg)
c.1208A>G (p.His403Arg)
c.1148A>G (p.His383Arg)
n.3607-159T>C
n.4043-159T>C
c.1031A>G (p.His344Arg)
c.1049A>G (p.His350Arg)
c.806A>G (p.His269Arg)
c.839A>G (p.His280Arg)
c.857A>G (p.His286Arg)
2g.127428423A>TCA348404515PROCc.863A>T (p.His288Leu)
c.187A>T
c.965A>T (p.His322Leu)
c.1046A>T (p.His349Leu)
c.1028A>T (p.His343Leu)
c.926A>T (p.His309Leu)
n.1332-159T>A
c.1106A>T (p.His369Leu)
c.1208A>T (p.His403Leu)
c.1148A>T (p.His383Leu)
n.3607-159T>A
n.4043-159T>A
c.1031A>T (p.His344Leu)
c.1049A>T (p.His350Leu)
c.806A>T (p.His269Leu)
c.839A>T (p.His280Leu)
c.857A>T (p.His286Leu)
2g.127428424C>ACA348404518PROCc.864C>A (p.His288Gln)
c.188C>A
c.966C>A (p.His322Gln)
c.1047C>A (p.His349Gln)
c.1029C>A (p.His343Gln)
c.927C>A (p.His309Gln)
n.1332-160G>T
c.1107C>A (p.His369Gln)
c.1209C>A (p.His403Gln)
c.1149C>A (p.His383Gln)
n.3607-160G>T
n.4043-160G>T
c.1032C>A (p.His344Gln)
c.1050C>A (p.His350Gln)
c.807C>A (p.His269Gln)
c.840C>A (p.His280Gln)
c.858C>A (p.His286Gln)
2g.127428424C=CA1286884460PROCc.864C= (p.His288=)
c.188C=
c.966C= (p.His322=)
c.1047C= (p.His349=)
c.1029C= (p.His343=)
c.927C= (p.His309=)
n.1332-160G=
c.1107C= (p.His369=)
c.1209C= (p.His403=)
c.1149C= (p.His383=)
n.3607-160G=
n.4043-160G=
c.1032C= (p.His344=)
c.1050C= (p.His350=)
c.807C= (p.His269=)
c.840C= (p.His280=)
c.858C= (p.His286=)
2g.127428424C>GCA348404520PROCc.864C>G (p.His288Gln)
c.188C>G
c.966C>G (p.His322Gln)
c.1047C>G (p.His349Gln)
c.1029C>G (p.His343Gln)
c.927C>G (p.His309Gln)
n.1332-160G>C
c.1107C>G (p.His369Gln)
c.1209C>G (p.His403Gln)
c.1149C>G (p.His383Gln)
n.3607-160G>C
n.4043-160G>C
c.1032C>G (p.His344Gln)
c.1050C>G (p.His350Gln)
c.807C>G (p.His269Gln)
c.840C>G (p.His280Gln)
c.858C>G (p.His286Gln)
2g.127428424C>TCA1859475PROCc.864C>T (p.His288=)
c.188C>T
c.966C>T (p.His322=)
c.1047C>T (p.His349=)
c.1029C>T (p.His343=)
c.927C>T (p.His309=)
n.1332-160G>A
c.1107C>T (p.His369=)
c.1209C>T (p.His403=)
c.1149C>T (p.His383=)
n.3607-160G>A
n.4043-160G>A
c.1032C>T (p.His344=)
c.1050C>T (p.His350=)
c.807C>T (p.His269=)
c.840C>T (p.His280=)
c.858C>T (p.His286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428425C>ACA348404523PROCc.865C>A (p.Pro289Thr)
c.189C>A
c.967C>A (p.Pro323Thr)
c.1048C>A (p.Pro350Thr)
c.1030C>A (p.Pro344Thr)
c.928C>A (p.Pro310Thr)
n.1332-161G>T
c.1108C>A (p.Pro370Thr)
c.1210C>A (p.Pro404Thr)
c.1150C>A (p.Pro384Thr)
n.3607-161G>T
n.4043-161G>T
c.1033C>A (p.Pro345Thr)
c.1051C>A (p.Pro351Thr)
c.808C>A (p.Pro270Thr)
c.841C>A (p.Pro281Thr)
c.859C>A (p.Pro287Thr)
2g.127428425C=CA1286884461PROCc.865C= (p.Pro289=)
c.189C=
c.967C= (p.Pro323=)
c.1048C= (p.Pro350=)
c.1030C= (p.Pro344=)
c.928C= (p.Pro310=)
n.1332-161G=
c.1108C= (p.Pro370=)
c.1210C= (p.Pro404=)
c.1150C= (p.Pro384=)
n.3607-161G=
n.4043-161G=
c.1033C= (p.Pro345=)
c.1051C= (p.Pro351=)
c.808C= (p.Pro270=)
c.841C= (p.Pro281=)
c.859C= (p.Pro287=)
2g.127428425C>GCA348404524PROCc.865C>G (p.Pro289Ala)
c.189C>G
c.967C>G (p.Pro323Ala)
c.1048C>G (p.Pro350Ala)
c.1030C>G (p.Pro344Ala)
c.928C>G (p.Pro310Ala)
n.1332-161G>C
c.1108C>G (p.Pro370Ala)
c.1210C>G (p.Pro404Ala)
c.1150C>G (p.Pro384Ala)
n.3607-161G>C
n.4043-161G>C
c.1033C>G (p.Pro345Ala)
c.1051C>G (p.Pro351Ala)
c.808C>G (p.Pro270Ala)
c.841C>G (p.Pro281Ala)
c.859C>G (p.Pro287Ala)
 dbSNP
2g.127428425C>TCA348404526PROCc.865C>T (p.Pro289Ser)
c.189C>T
c.967C>T (p.Pro323Ser)
c.1048C>T (p.Pro350Ser)
c.1030C>T (p.Pro344Ser)
c.928C>T (p.Pro310Ser)
n.1332-161G>A
c.1108C>T (p.Pro370Ser)
c.1210C>T (p.Pro404Ser)
c.1150C>T (p.Pro384Ser)
n.3607-161G>A
n.4043-161G>A
c.1033C>T (p.Pro345Ser)
c.1051C>T (p.Pro351Ser)
c.808C>T (p.Pro270Ser)
c.841C>T (p.Pro281Ser)
c.859C>T (p.Pro287Ser)
2g.127428426C>ACA348404528PROCc.866C>A (p.Pro289His)
c.190C>A
c.968C>A (p.Pro323His)
c.1049C>A (p.Pro350His)
c.1031C>A (p.Pro344His)
c.929C>A (p.Pro310His)
n.1332-162G>T
c.1109C>A (p.Pro370His)
c.1211C>A (p.Pro404His)
c.1151C>A (p.Pro384His)
n.3607-162G>T
n.4043-162G>T
c.1034C>A (p.Pro345His)
c.1052C>A (p.Pro351His)
c.809C>A (p.Pro270His)
c.842C>A (p.Pro281His)
c.860C>A (p.Pro287His)
2g.127428426C=CA1286884462PROCc.866C= (p.Pro289=)
c.190C=
c.968C= (p.Pro323=)
c.1049C= (p.Pro350=)
c.1031C= (p.Pro344=)
c.929C= (p.Pro310=)
n.1332-162G=
c.1109C= (p.Pro370=)
c.1211C= (p.Pro404=)
c.1151C= (p.Pro384=)
n.3607-162G=
n.4043-162G=
c.1034C= (p.Pro345=)
c.1052C= (p.Pro351=)
c.809C= (p.Pro270=)
c.842C= (p.Pro281=)
c.860C= (p.Pro287=)
2g.127428426C>GCA348404530PROCc.866C>G (p.Pro289Arg)
c.190C>G
c.968C>G (p.Pro323Arg)
c.1049C>G (p.Pro350Arg)
c.1031C>G (p.Pro344Arg)
c.929C>G (p.Pro310Arg)
n.1332-162G>C
c.1109C>G (p.Pro370Arg)
c.1211C>G (p.Pro404Arg)
c.1151C>G (p.Pro384Arg)
n.3607-162G>C
n.4043-162G>C
c.1034C>G (p.Pro345Arg)
c.1052C>G (p.Pro351Arg)
c.809C>G (p.Pro270Arg)
c.842C>G (p.Pro281Arg)
c.860C>G (p.Pro287Arg)
 gnomAD v4
2g.127428426C>TCA114408PROCc.866C>T (p.Pro289Leu)
c.190C>T
c.968C>T (p.Pro323Leu)
c.1049C>T (p.Pro350Leu)
c.1031C>T (p.Pro344Leu)
c.929C>T (p.Pro310Leu)
n.1332-162G>A
c.1109C>T (p.Pro370Leu)
c.1211C>T (p.Pro404Leu)
c.1151C>T (p.Pro384Leu)
n.3607-162G>A
n.4043-162G>A
c.1034C>T (p.Pro345Leu)
c.1052C>T (p.Pro351Leu)
c.809C>T (p.Pro270Leu)
c.842C>T (p.Pro281Leu)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP gnomAD v4
2g.127428427C>ACA428618893PROCc.867C>A (p.Pro289=)
c.191C>A
c.969C>A (p.Pro323=)
c.1050C>A (p.Pro350=)
c.1032C>A (p.Pro344=)
c.930C>A (p.Pro310=)
n.1332-163G>T
c.1110C>A (p.Pro370=)
c.1212C>A (p.Pro404=)
c.1152C>A (p.Pro384=)
n.3607-163G>T
n.4043-163G>T
c.1035C>A (p.Pro345=)
c.1053C>A (p.Pro351=)
c.810C>A (p.Pro270=)
c.843C>A (p.Pro281=)
c.861C>A (p.Pro287=)
2g.127428427C=CA1286884463PROCc.867C= (p.Pro289=)
c.191C=
c.969C= (p.Pro323=)
c.1050C= (p.Pro350=)
c.1032C= (p.Pro344=)
c.930C= (p.Pro310=)
n.1332-163G=
c.1110C= (p.Pro370=)
c.1212C= (p.Pro404=)
c.1152C= (p.Pro384=)
n.3607-163G=
n.4043-163G=
c.1035C= (p.Pro345=)
c.1053C= (p.Pro351=)
c.810C= (p.Pro270=)
c.843C= (p.Pro281=)
c.861C= (p.Pro287=)
2g.127428427C>GCA428618894PROCc.867C>G (p.Pro289=)
c.191C>G
c.969C>G (p.Pro323=)
c.1050C>G (p.Pro350=)
c.1032C>G (p.Pro344=)
c.930C>G (p.Pro310=)
n.1332-163G>C
c.1110C>G (p.Pro370=)
c.1212C>G (p.Pro404=)
c.1152C>G (p.Pro384=)
n.3607-163G>C
n.4043-163G>C
c.1035C>G (p.Pro345=)
c.1053C>G (p.Pro351=)
c.810C>G (p.Pro270=)
c.843C>G (p.Pro281=)
c.861C>G (p.Pro287=)
2g.127428427C>TCA55350662PROCc.867C>T (p.Pro289=)
c.191C>T
c.969C>T (p.Pro323=)
c.1050C>T (p.Pro350=)
c.1032C>T (p.Pro344=)
c.930C>T (p.Pro310=)
n.1332-163G>A
c.1110C>T (p.Pro370=)
c.1212C>T (p.Pro404=)
c.1152C>T (p.Pro384=)
n.3607-163G>A
n.4043-163G>A
c.1035C>T (p.Pro345=)
c.1053C>T (p.Pro351=)
c.810C>T (p.Pro270=)
c.843C>T (p.Pro281=)
c.861C>T (p.Pro287=)
 dbSNP
2g.127428428A=CA1286884464PROCc.868A= (p.Asn290=)
c.192A=
c.970A= (p.Asn324=)
c.1051A= (p.Asn351=)
c.1033A= (p.Asn345=)
c.931A= (p.Asn311=)
n.1332-164T=
c.1111A= (p.Asn371=)
c.1213A= (p.Asn405=)
c.1153A= (p.Asn385=)
n.3607-164T=
n.4043-164T=
c.1036A= (p.Asn346=)
c.1054A= (p.Asn352=)
c.811A= (p.Asn271=)
c.844A= (p.Asn282=)
c.862A= (p.Asn288=)
2g.127428428A>CCA348404536PROCc.868A>C (p.Asn290His)
c.192A>C
c.970A>C (p.Asn324His)
c.1051A>C (p.Asn351His)
c.1033A>C (p.Asn345His)
c.931A>C (p.Asn311His)
n.1332-164T>G
c.1111A>C (p.Asn371His)
c.1213A>C (p.Asn405His)
c.1153A>C (p.Asn385His)
n.3607-164T>G
n.4043-164T>G
c.1036A>C (p.Asn346His)
c.1054A>C (p.Asn352His)
c.811A>C (p.Asn271His)
c.844A>C (p.Asn282His)
c.862A>C (p.Asn288His)
2g.127428428A>GCA348404538PROCc.868A>G (p.Asn290Asp)
c.192A>G
c.970A>G (p.Asn324Asp)
c.1051A>G (p.Asn351Asp)
c.1033A>G (p.Asn345Asp)
c.931A>G (p.Asn311Asp)
n.1332-164T>C
c.1111A>G (p.Asn371Asp)
c.1213A>G (p.Asn405Asp)
c.1153A>G (p.Asn385Asp)
n.3607-164T>C
n.4043-164T>C
c.1036A>G (p.Asn346Asp)
c.1054A>G (p.Asn352Asp)
c.811A>G (p.Asn271Asp)
c.844A>G (p.Asn282Asp)
c.862A>G (p.Asn288Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.127428428A>TCA348404534PROCc.868A>T (p.Asn290Tyr)
c.192A>T
c.970A>T (p.Asn324Tyr)
c.1051A>T (p.Asn351Tyr)
c.1033A>T (p.Asn345Tyr)
c.931A>T (p.Asn311Tyr)
n.1332-164T>A
c.1111A>T (p.Asn371Tyr)
c.1213A>T (p.Asn405Tyr)
c.1153A>T (p.Asn385Tyr)
n.3607-164T>A
n.4043-164T>A
c.1036A>T (p.Asn346Tyr)
c.1054A>T (p.Asn352Tyr)
c.811A>T (p.Asn271Tyr)
c.844A>T (p.Asn282Tyr)
c.862A>T (p.Asn288Tyr)
2g.127428429A=CA1286884465PROCc.869A= (p.Asn290=)
c.193A=
c.971A= (p.Asn324=)
c.1052A= (p.Asn351=)
c.1034A= (p.Asn345=)
c.932A= (p.Asn311=)
n.1332-165T=
c.1112A= (p.Asn371=)
c.1214A= (p.Asn405=)
c.1154A= (p.Asn385=)
n.3607-165T=
n.4043-165T=
c.1037A= (p.Asn346=)
c.1055A= (p.Asn352=)
c.812A= (p.Asn271=)
c.845A= (p.Asn282=)
c.863A= (p.Asn288=)
2g.127428429A>CCA348404542PROCc.869A>C (p.Asn290Thr)
c.193A>C
c.971A>C (p.Asn324Thr)
c.1052A>C (p.Asn351Thr)
c.1034A>C (p.Asn345Thr)
c.932A>C (p.Asn311Thr)
n.1332-165T>G
c.1112A>C (p.Asn371Thr)
c.1214A>C (p.Asn405Thr)
c.1154A>C (p.Asn385Thr)
n.3607-165T>G
n.4043-165T>G
c.1037A>C (p.Asn346Thr)
c.1055A>C (p.Asn352Thr)
c.812A>C (p.Asn271Thr)
c.845A>C (p.Asn282Thr)
c.863A>C (p.Asn288Thr)
2g.127428429A>GCA348404540PROCc.869A>G (p.Asn290Ser)
c.193A>G
c.971A>G (p.Asn324Ser)
c.1052A>G (p.Asn351Ser)
c.1034A>G (p.Asn345Ser)
c.932A>G (p.Asn311Ser)
n.1332-165T>C
c.1112A>G (p.Asn371Ser)
c.1214A>G (p.Asn405Ser)
c.1154A>G (p.Asn385Ser)
n.3607-165T>C
n.4043-165T>C
c.1037A>G (p.Asn346Ser)
c.1055A>G (p.Asn352Ser)
c.812A>G (p.Asn271Ser)
c.845A>G (p.Asn282Ser)
c.863A>G (p.Asn288Ser)
 dbSNP
2g.127428429A>TCA348404544PROCc.869A>T (p.Asn290Ile)
c.193A>T
c.971A>T (p.Asn324Ile)
c.1052A>T (p.Asn351Ile)
c.1034A>T (p.Asn345Ile)
c.932A>T (p.Asn311Ile)
n.1332-165T>A
c.1112A>T (p.Asn371Ile)
c.1214A>T (p.Asn405Ile)
c.1154A>T (p.Asn385Ile)
n.3607-165T>A
n.4043-165T>A
c.1037A>T (p.Asn346Ile)
c.1055A>T (p.Asn352Ile)
c.812A>T (p.Asn271Ile)
c.845A>T (p.Asn282Ile)
c.863A>T (p.Asn288Ile)
2g.127428430C>ACA348404546PROCc.870C>A (p.Asn290Lys)
c.194C>A
c.972C>A (p.Asn324Lys)
c.1053C>A (p.Asn351Lys)
c.1035C>A (p.Asn345Lys)
c.933C>A (p.Asn311Lys)
n.1332-166G>T
c.1113C>A (p.Asn371Lys)
c.1215C>A (p.Asn405Lys)
c.1155C>A (p.Asn385Lys)
n.3607-166G>T
n.4043-166G>T
c.1038C>A (p.Asn346Lys)
c.1056C>A (p.Asn352Lys)
c.813C>A (p.Asn271Lys)
c.846C>A (p.Asn282Lys)
c.864C>A (p.Asn288Lys)
2g.127428430C>GCA348404547PROCc.870C>G (p.Asn290Lys)
c.194C>G
c.972C>G (p.Asn324Lys)
c.1053C>G (p.Asn351Lys)
c.1035C>G (p.Asn345Lys)
c.933C>G (p.Asn311Lys)
n.1332-166G>C
c.1113C>G (p.Asn371Lys)
c.1215C>G (p.Asn405Lys)
c.1155C>G (p.Asn385Lys)
n.3607-166G>C
n.4043-166G>C
c.1038C>G (p.Asn346Lys)
c.1056C>G (p.Asn352Lys)
c.813C>G (p.Asn271Lys)
c.846C>G (p.Asn282Lys)
c.864C>G (p.Asn288Lys)
 gnomAD v4
2g.127428430C>TCA428618895PROCc.870C>T (p.Asn290=)
c.194C>T
c.972C>T (p.Asn324=)
c.1053C>T (p.Asn351=)
c.1035C>T (p.Asn345=)
c.933C>T (p.Asn311=)
n.1332-166G>A
c.1113C>T (p.Asn371=)
c.1215C>T (p.Asn405=)
c.1155C>T (p.Asn385=)
n.3607-166G>A
n.4043-166G>A
c.1038C>T (p.Asn346=)
c.1056C>T (p.Asn352=)
c.813C>T (p.Asn271=)
c.846C>T (p.Asn282=)
c.864C>T (p.Asn288=)
2g.127428431T>ACA348404550PROCc.871T>A (p.Tyr291Asn)
c.195T>A
c.973T>A (p.Tyr325Asn)
c.1054T>A (p.Tyr352Asn)
c.1036T>A (p.Tyr346Asn)
c.934T>A (p.Tyr312Asn)
n.1332-167A>T
c.1114T>A (p.Tyr372Asn)
c.1216T>A (p.Tyr406Asn)
c.1156T>A (p.Tyr386Asn)
n.3607-167A>T
n.4043-167A>T
c.1039T>A (p.Tyr347Asn)
c.1057T>A (p.Tyr353Asn)
c.814T>A (p.Tyr272Asn)
c.847T>A (p.Tyr283Asn)
c.865T>A (p.Tyr289Asn)
2g.127428431T>CCA348404552PROCc.871T>C (p.Tyr291His)
c.195T>C
c.973T>C (p.Tyr325His)
c.1054T>C (p.Tyr352His)
c.1036T>C (p.Tyr346His)
c.934T>C (p.Tyr312His)
n.1332-167A>G
c.1114T>C (p.Tyr372His)
c.1216T>C (p.Tyr406His)
c.1156T>C (p.Tyr386His)
n.3607-167A>G
n.4043-167A>G
c.1039T>C (p.Tyr347His)
c.1057T>C (p.Tyr353His)
c.814T>C (p.Tyr272His)
c.847T>C (p.Tyr283His)
c.865T>C (p.Tyr289His)
2g.127428431T>GCA348404554PROCc.871T>G (p.Tyr291Asp)
c.195T>G
c.973T>G (p.Tyr325Asp)
c.1054T>G (p.Tyr352Asp)
c.1036T>G (p.Tyr346Asp)
c.934T>G (p.Tyr312Asp)
n.1332-167A>C
c.1114T>G (p.Tyr372Asp)
c.1216T>G (p.Tyr406Asp)
c.1156T>G (p.Tyr386Asp)
n.3607-167A>C
n.4043-167A>C
c.1039T>G (p.Tyr347Asp)
c.1057T>G (p.Tyr353Asp)
c.814T>G (p.Tyr272Asp)
c.847T>G (p.Tyr283Asp)
c.865T>G (p.Tyr289Asp)
2g.127428432A>CCA348404560PROCc.872A>C (p.Tyr291Ser)
c.196A>C
c.974A>C (p.Tyr325Ser)
c.1055A>C (p.Tyr352Ser)
c.1037A>C (p.Tyr346Ser)
c.935A>C (p.Tyr312Ser)
n.1332-168T>G
c.1115A>C (p.Tyr372Ser)
c.1217A>C (p.Tyr406Ser)
c.1157A>C (p.Tyr386Ser)
n.3607-168T>G
n.4043-168T>G
c.1040A>C (p.Tyr347Ser)
c.1058A>C (p.Tyr353Ser)
c.815A>C (p.Tyr272Ser)
c.848A>C (p.Tyr283Ser)
c.866A>C (p.Tyr289Ser)
2g.127428432A>GCA348404561PROCc.872A>G (p.Tyr291Cys)
c.196A>G
c.974A>G (p.Tyr325Cys)
c.1055A>G (p.Tyr352Cys)
c.1037A>G (p.Tyr346Cys)
c.935A>G (p.Tyr312Cys)
n.1332-168T>C
c.1115A>G (p.Tyr372Cys)
c.1217A>G (p.Tyr406Cys)
c.1157A>G (p.Tyr386Cys)
n.3607-168T>C
n.4043-168T>C
c.1040A>G (p.Tyr347Cys)
c.1058A>G (p.Tyr353Cys)
c.815A>G (p.Tyr272Cys)
c.848A>G (p.Tyr283Cys)
c.866A>G (p.Tyr289Cys)
2g.127428432A>TCA348404563PROCc.872A>T (p.Tyr291Phe)
c.196A>T
c.974A>T (p.Tyr325Phe)
c.1055A>T (p.Tyr352Phe)
c.1037A>T (p.Tyr346Phe)
c.935A>T (p.Tyr312Phe)
n.1332-168T>A
c.1115A>T (p.Tyr372Phe)
c.1217A>T (p.Tyr406Phe)
c.1157A>T (p.Tyr386Phe)
n.3607-168T>A
n.4043-168T>A
c.1040A>T (p.Tyr347Phe)
c.1058A>T (p.Tyr353Phe)
c.815A>T (p.Tyr272Phe)
c.848A>T (p.Tyr283Phe)
c.866A>T (p.Tyr289Phe)
2g.127428433C>ACA348404565PROCc.873C>A (p.Tyr291Ter)
c.197C>A
c.975C>A (p.Tyr325Ter)
c.1056C>A (p.Tyr352Ter)
c.1038C>A (p.Tyr346Ter)
c.936C>A (p.Tyr312Ter)
n.1332-169G>T
c.1116C>A (p.Tyr372Ter)
c.1218C>A (p.Tyr406Ter)
c.1158C>A (p.Tyr386Ter)
n.3607-169G>T
n.4043-169G>T
c.1041C>A (p.Tyr347Ter)
c.1059C>A (p.Tyr353Ter)
c.816C>A (p.Tyr272Ter)
c.849C>A (p.Tyr283Ter)
c.867C>A (p.Tyr289Ter)
2g.127428433C>GCA348404567PROCc.873C>G (p.Tyr291Ter)
c.197C>G
c.975C>G (p.Tyr325Ter)
c.1056C>G (p.Tyr352Ter)
c.1038C>G (p.Tyr346Ter)
c.936C>G (p.Tyr312Ter)
n.1332-169G>C
c.1116C>G (p.Tyr372Ter)
c.1218C>G (p.Tyr406Ter)
c.1158C>G (p.Tyr386Ter)
n.3607-169G>C
n.4043-169G>C
c.1041C>G (p.Tyr347Ter)
c.1059C>G (p.Tyr353Ter)
c.816C>G (p.Tyr272Ter)
c.849C>G (p.Tyr283Ter)
c.867C>G (p.Tyr289Ter)
2g.127428433C>TCA428618896PROCc.873C>T (p.Tyr291=)
c.197C>T
c.975C>T (p.Tyr325=)
c.1056C>T (p.Tyr352=)
c.1038C>T (p.Tyr346=)
c.936C>T (p.Tyr312=)
n.1332-169G>A
c.1116C>T (p.Tyr372=)
c.1218C>T (p.Tyr406=)
c.1158C>T (p.Tyr386=)
n.3607-169G>A
n.4043-169G>A
c.1041C>T (p.Tyr347=)
c.1059C>T (p.Tyr353=)
c.816C>T (p.Tyr272=)
c.849C>T (p.Tyr283=)
c.867C>T (p.Tyr289=)
 dbSNP
2g.127428434A=CA1286884466PROCc.874A= (p.Ser292=)
c.198A=
c.976A= (p.Ser326=)
c.1057A= (p.Ser353=)
c.1039A= (p.Ser347=)
c.937A= (p.Ser313=)
n.1332-170T=
c.1117A= (p.Ser373=)
c.1219A= (p.Ser407=)
c.1159A= (p.Ser387=)
n.3607-170T=
n.4043-170T=
c.1042A= (p.Ser348=)
c.1060A= (p.Ser354=)
c.817A= (p.Ser273=)
c.850A= (p.Ser284=)
c.868A= (p.Ser290=)
2g.127428434A>CCA348404569PROCc.874A>C (p.Ser292Arg)
c.198A>C
c.976A>C (p.Ser326Arg)
c.1057A>C (p.Ser353Arg)
c.1039A>C (p.Ser347Arg)
c.937A>C (p.Ser313Arg)
n.1332-170T>G
c.1117A>C (p.Ser373Arg)
c.1219A>C (p.Ser407Arg)
c.1159A>C (p.Ser387Arg)
n.3607-170T>G
n.4043-170T>G
c.1042A>C (p.Ser348Arg)
c.1060A>C (p.Ser354Arg)
c.817A>C (p.Ser273Arg)
c.850A>C (p.Ser284Arg)
c.868A>C (p.Ser290Arg)
2g.127428434A>GCA348404571PROCc.874A>G (p.Ser292Gly)
c.198A>G
c.976A>G (p.Ser326Gly)
c.1057A>G (p.Ser353Gly)
c.1039A>G (p.Ser347Gly)
c.937A>G (p.Ser313Gly)
n.1332-170T>C
c.1117A>G (p.Ser373Gly)
c.1219A>G (p.Ser407Gly)
c.1159A>G (p.Ser387Gly)
n.3607-170T>C
n.4043-170T>C
c.1042A>G (p.Ser348Gly)
c.1060A>G (p.Ser354Gly)
c.817A>G (p.Ser273Gly)
c.850A>G (p.Ser284Gly)
c.868A>G (p.Ser290Gly)
 ClinVar dbSNP gnomAD v4
2g.127428434A>TCA348404573PROCc.874A>T (p.Ser292Cys)
c.198A>T
c.976A>T (p.Ser326Cys)
c.1057A>T (p.Ser353Cys)
c.1039A>T (p.Ser347Cys)
c.937A>T (p.Ser313Cys)
n.1332-170T>A
c.1117A>T (p.Ser373Cys)
c.1219A>T (p.Ser407Cys)
c.1159A>T (p.Ser387Cys)
n.3607-170T>A
n.4043-170T>A
c.1042A>T (p.Ser348Cys)
c.1060A>T (p.Ser354Cys)
c.817A>T (p.Ser273Cys)
c.850A>T (p.Ser284Cys)
c.868A>T (p.Ser290Cys)
2g.127428435G>ACA1859476PROCc.875G>A (p.Ser292Asn)
c.199G>A
c.977G>A (p.Ser326Asn)
c.1058G>A (p.Ser353Asn)
c.1040G>A (p.Ser347Asn)
c.938G>A (p.Ser313Asn)
n.1332-171C>T
c.1118G>A (p.Ser373Asn)
c.1220G>A (p.Ser407Asn)
c.1160G>A (p.Ser387Asn)
n.3607-171C>T
n.4043-171C>T
c.1043G>A (p.Ser348Asn)
c.1061G>A (p.Ser354Asn)
c.818G>A (p.Ser273Asn)
c.851G>A (p.Ser284Asn)
c.869G>A (p.Ser290Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428435G>CCA348404576PROCc.875G>C (p.Ser292Thr)
c.199G>C
c.977G>C (p.Ser326Thr)
c.1058G>C (p.Ser353Thr)
c.1040G>C (p.Ser347Thr)
c.938G>C (p.Ser313Thr)
n.1332-171C>G
c.1118G>C (p.Ser373Thr)
c.1220G>C (p.Ser407Thr)
c.1160G>C (p.Ser387Thr)
n.3607-171C>G
n.4043-171C>G
c.1043G>C (p.Ser348Thr)
c.1061G>C (p.Ser354Thr)
c.818G>C (p.Ser273Thr)
c.851G>C (p.Ser284Thr)
c.869G>C (p.Ser290Thr)
 gnomAD v4
2g.127428435G=CA1286884467PROCc.875G= (p.Ser292=)
c.199G=
c.977G= (p.Ser326=)
c.1058G= (p.Ser353=)
c.1040G= (p.Ser347=)
c.938G= (p.Ser313=)
n.1332-171C=
c.1118G= (p.Ser373=)
c.1220G= (p.Ser407=)
c.1160G= (p.Ser387=)
n.3607-171C=
n.4043-171C=
c.1043G= (p.Ser348=)
c.1061G= (p.Ser354=)
c.818G= (p.Ser273=)
c.851G= (p.Ser284=)
c.869G= (p.Ser290=)
2g.127428435G>TCA348404577PROCc.875G>T (p.Ser292Ile)
c.199G>T
c.977G>T (p.Ser326Ile)
c.1058G>T (p.Ser353Ile)
c.1040G>T (p.Ser347Ile)
c.938G>T (p.Ser313Ile)
n.1332-171C>A
c.1118G>T (p.Ser373Ile)
c.1220G>T (p.Ser407Ile)
c.1160G>T (p.Ser387Ile)
n.3607-171C>A
n.4043-171C>A
c.1043G>T (p.Ser348Ile)
c.1061G>T (p.Ser354Ile)
c.818G>T (p.Ser273Ile)
c.851G>T (p.Ser284Ile)
c.869G>T (p.Ser290Ile)
2g.127428436C>ACA348404580PROCc.876C>A (p.Ser292Arg)
c.200C>A
c.978C>A (p.Ser326Arg)
c.1059C>A (p.Ser353Arg)
c.1041C>A (p.Ser347Arg)
c.939C>A (p.Ser313Arg)
n.1332-172G>T
c.1119C>A (p.Ser373Arg)
c.1221C>A (p.Ser407Arg)
c.1161C>A (p.Ser387Arg)
n.3607-172G>T
n.4043-172G>T
c.1044C>A (p.Ser348Arg)
c.1062C>A (p.Ser354Arg)
c.819C>A (p.Ser273Arg)
c.852C>A (p.Ser284Arg)
c.870C>A (p.Ser290Arg)
2g.127428436C=CA1286884468PROCc.876C= (p.Ser292=)
c.200C=
c.978C= (p.Ser326=)
c.1059C= (p.Ser353=)
c.1041C= (p.Ser347=)
c.939C= (p.Ser313=)
n.1332-172G=
c.1119C= (p.Ser373=)
c.1221C= (p.Ser407=)
c.1161C= (p.Ser387=)
n.3607-172G=
n.4043-172G=
c.1044C= (p.Ser348=)
c.1062C= (p.Ser354=)
c.819C= (p.Ser273=)
c.852C= (p.Ser284=)
c.870C= (p.Ser290=)
2g.127428436C>GCA348404582PROCc.876C>G (p.Ser292Arg)
c.200C>G
c.978C>G (p.Ser326Arg)
c.1059C>G (p.Ser353Arg)
c.1041C>G (p.Ser347Arg)
c.939C>G (p.Ser313Arg)
n.1332-172G>C
c.1119C>G (p.Ser373Arg)
c.1221C>G (p.Ser407Arg)
c.1161C>G (p.Ser387Arg)
n.3607-172G>C
n.4043-172G>C
c.1044C>G (p.Ser348Arg)
c.1062C>G (p.Ser354Arg)
c.819C>G (p.Ser273Arg)
c.852C>G (p.Ser284Arg)
c.870C>G (p.Ser290Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428436C>TCA428618897PROCc.876C>T (p.Ser292=)
c.200C>T
c.978C>T (p.Ser326=)
c.1059C>T (p.Ser353=)
c.1041C>T (p.Ser347=)
c.939C>T (p.Ser313=)
n.1332-172G>A
c.1119C>T (p.Ser373=)
c.1221C>T (p.Ser407=)
c.1161C>T (p.Ser387=)
n.3607-172G>A
n.4043-172G>A
c.1044C>T (p.Ser348=)
c.1062C>T (p.Ser354=)
c.819C>T (p.Ser273=)
c.852C>T (p.Ser284=)
c.870C>T (p.Ser290=)
 dbSNP gnomAD v4
2g.127428437A=CA1286884469PROCc.877A= (p.Lys293=)
c.201A=
c.979A= (p.Lys327=)
c.1060A= (p.Lys354=)
c.1042A= (p.Lys348=)
c.940A= (p.Lys314=)
n.1332-173T=
c.1120A= (p.Lys374=)
c.1222A= (p.Lys408=)
c.1162A= (p.Lys388=)
n.3607-173T=
n.4043-173T=
c.1045A= (p.Lys349=)
c.1063A= (p.Lys355=)
c.820A= (p.Lys274=)
c.853A= (p.Lys285=)
c.871A= (p.Lys291=)
2g.127428437A>CCA348404584PROCc.877A>C (p.Lys293Gln)
c.201A>C
c.979A>C (p.Lys327Gln)
c.1060A>C (p.Lys354Gln)
c.1042A>C (p.Lys348Gln)
c.940A>C (p.Lys314Gln)
n.1332-173T>G
c.1120A>C (p.Lys374Gln)
c.1222A>C (p.Lys408Gln)
c.1162A>C (p.Lys388Gln)
n.3607-173T>G
n.4043-173T>G
c.1045A>C (p.Lys349Gln)
c.1063A>C (p.Lys355Gln)
c.820A>C (p.Lys274Gln)
c.853A>C (p.Lys285Gln)
c.871A>C (p.Lys291Gln)
 gnomAD v4
2g.127428437A>GCA348404585PROCc.877A>G (p.Lys293Glu)
c.201A>G
c.979A>G (p.Lys327Glu)
c.1060A>G (p.Lys354Glu)
c.1042A>G (p.Lys348Glu)
c.940A>G (p.Lys314Glu)
n.1332-173T>C
c.1120A>G (p.Lys374Glu)
c.1222A>G (p.Lys408Glu)
c.1162A>G (p.Lys388Glu)
n.3607-173T>C
n.4043-173T>C
c.1045A>G (p.Lys349Glu)
c.1063A>G (p.Lys355Glu)
c.820A>G (p.Lys274Glu)
c.853A>G (p.Lys285Glu)
c.871A>G (p.Lys291Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.127428437A>TCA348404587PROCc.877A>T (p.Lys293Ter)
c.201A>T
c.979A>T (p.Lys327Ter)
c.1060A>T (p.Lys354Ter)
c.1042A>T (p.Lys348Ter)
c.940A>T (p.Lys314Ter)
n.1332-173T>A
c.1120A>T (p.Lys374Ter)
c.1222A>T (p.Lys408Ter)
c.1162A>T (p.Lys388Ter)
n.3607-173T>A
n.4043-173T>A
c.1045A>T (p.Lys349Ter)
c.1063A>T (p.Lys355Ter)
c.820A>T (p.Lys274Ter)
c.853A>T (p.Lys285Ter)
c.871A>T (p.Lys291Ter)
2g.127428438A=CA1286884470PROCc.878A= (p.Lys293=)
c.202A=
c.980A= (p.Lys327=)
c.1061A= (p.Lys354=)
c.1043A= (p.Lys348=)
c.941A= (p.Lys314=)
n.1332-174T=
c.1121A= (p.Lys374=)
c.1223A= (p.Lys408=)
c.1163A= (p.Lys388=)
n.3607-174T=
n.4043-174T=
c.1046A= (p.Lys349=)
c.1064A= (p.Lys355=)
c.821A= (p.Lys274=)
c.854A= (p.Lys285=)
c.872A= (p.Lys291=)
2g.127428438A>CCA348404590PROCc.878A>C (p.Lys293Thr)
c.202A>C
c.980A>C (p.Lys327Thr)
c.1061A>C (p.Lys354Thr)
c.1043A>C (p.Lys348Thr)
c.941A>C (p.Lys314Thr)
n.1332-174T>G
c.1121A>C (p.Lys374Thr)
c.1223A>C (p.Lys408Thr)
c.1163A>C (p.Lys388Thr)
n.3607-174T>G
n.4043-174T>G
c.1046A>C (p.Lys349Thr)
c.1064A>C (p.Lys355Thr)
c.821A>C (p.Lys274Thr)
c.854A>C (p.Lys285Thr)
c.872A>C (p.Lys291Thr)
2g.127428438A>GCA1859477PROCc.878A>G (p.Lys293Arg)
c.202A>G
c.980A>G (p.Lys327Arg)
c.1061A>G (p.Lys354Arg)
c.1043A>G (p.Lys348Arg)
c.941A>G (p.Lys314Arg)
n.1332-174T>C
c.1121A>G (p.Lys374Arg)
c.1223A>G (p.Lys408Arg)
c.1163A>G (p.Lys388Arg)
n.3607-174T>C
n.4043-174T>C
c.1046A>G (p.Lys349Arg)
c.1064A>G (p.Lys355Arg)
c.821A>G (p.Lys274Arg)
c.854A>G (p.Lys285Arg)
c.872A>G (p.Lys291Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428438A>TCA348404593PROCc.878A>T (p.Lys293Met)
c.202A>T
c.980A>T (p.Lys327Met)
c.1061A>T (p.Lys354Met)
c.1043A>T (p.Lys348Met)
c.941A>T (p.Lys314Met)
n.1332-174T>A
c.1121A>T (p.Lys374Met)
c.1223A>T (p.Lys408Met)
c.1163A>T (p.Lys388Met)
n.3607-174T>A
n.4043-174T>A
c.1046A>T (p.Lys349Met)
c.1064A>T (p.Lys355Met)
c.821A>T (p.Lys274Met)
c.854A>T (p.Lys285Met)
c.872A>T (p.Lys291Met)
2g.127428439G>ACA428618898PROCc.879G>A (p.Lys293=)
c.203G>A
c.981G>A (p.Lys327=)
c.1062G>A (p.Lys354=)
c.1044G>A (p.Lys348=)
c.942G>A (p.Lys314=)
n.1332-175C>T
c.1122G>A (p.Lys374=)
c.1224G>A (p.Lys408=)
c.1164G>A (p.Lys388=)
n.3607-175C>T
n.4043-175C>T
c.1047G>A (p.Lys349=)
c.1065G>A (p.Lys355=)
c.822G>A (p.Lys274=)
c.855G>A (p.Lys285=)
c.873G>A (p.Lys291=)
2g.127428439G>CCA348404596PROCc.879G>C (p.Lys293Asn)
c.203G>C
c.981G>C (p.Lys327Asn)
c.1062G>C (p.Lys354Asn)
c.1044G>C (p.Lys348Asn)
c.942G>C (p.Lys314Asn)
n.1332-175C>G
c.1122G>C (p.Lys374Asn)
c.1224G>C (p.Lys408Asn)
c.1164G>C (p.Lys388Asn)
n.3607-175C>G
n.4043-175C>G
c.1047G>C (p.Lys349Asn)
c.1065G>C (p.Lys355Asn)
c.822G>C (p.Lys274Asn)
c.855G>C (p.Lys285Asn)
c.873G>C (p.Lys291Asn)
2g.127428439G>TCA348404597PROCc.879G>T (p.Lys293Asn)
c.203G>T
c.981G>T (p.Lys327Asn)
c.1062G>T (p.Lys354Asn)
c.1044G>T (p.Lys348Asn)
c.942G>T (p.Lys314Asn)
n.1332-175C>A
c.1122G>T (p.Lys374Asn)
c.1224G>T (p.Lys408Asn)
c.1164G>T (p.Lys388Asn)
n.3607-175C>A
n.4043-175C>A
c.1047G>T (p.Lys349Asn)
c.1065G>T (p.Lys355Asn)
c.822G>T (p.Lys274Asn)
c.855G>T (p.Lys285Asn)
c.873G>T (p.Lys291Asn)
2g.127428440A=CA1286884471PROCc.880A= (p.Ser294=)
c.204A=
c.982A= (p.Ser328=)
c.1063A= (p.Ser355=)
c.1045A= (p.Ser349=)
c.943A= (p.Ser315=)
n.1332-176T=
c.1123A= (p.Ser375=)
c.1225A= (p.Ser409=)
c.1165A= (p.Ser389=)
n.3607-176T=
n.4043-176T=
c.1048A= (p.Ser350=)
c.1066A= (p.Ser356=)
c.823A= (p.Ser275=)
c.856A= (p.Ser286=)
c.874A= (p.Ser292=)
2g.127428440A>CCA348404599PROCc.880A>C (p.Ser294Arg)
c.204A>C
c.982A>C (p.Ser328Arg)
c.1063A>C (p.Ser355Arg)
c.1045A>C (p.Ser349Arg)
c.943A>C (p.Ser315Arg)
n.1332-176T>G
c.1123A>C (p.Ser375Arg)
c.1225A>C (p.Ser409Arg)
c.1165A>C (p.Ser389Arg)
n.3607-176T>G
n.4043-176T>G
c.1048A>C (p.Ser350Arg)
c.1066A>C (p.Ser356Arg)
c.823A>C (p.Ser275Arg)
c.856A>C (p.Ser286Arg)
c.874A>C (p.Ser292Arg)
2g.127428440A>GCA348404601PROCc.880A>G (p.Ser294Gly)
c.204A>G
c.982A>G (p.Ser328Gly)
c.1063A>G (p.Ser355Gly)
c.1045A>G (p.Ser349Gly)
c.943A>G (p.Ser315Gly)
n.1332-176T>C
c.1123A>G (p.Ser375Gly)
c.1225A>G (p.Ser409Gly)
c.1165A>G (p.Ser389Gly)
n.3607-176T>C
n.4043-176T>C
c.1048A>G (p.Ser350Gly)
c.1066A>G (p.Ser356Gly)
c.823A>G (p.Ser275Gly)
c.856A>G (p.Ser286Gly)
c.874A>G (p.Ser292Gly)
2g.127428440A>TCA348404603PROCc.880A>T (p.Ser294Cys)
c.204A>T
c.982A>T (p.Ser328Cys)
c.1063A>T (p.Ser355Cys)
c.1045A>T (p.Ser349Cys)
c.943A>T (p.Ser315Cys)
n.1332-176T>A
c.1123A>T (p.Ser375Cys)
c.1225A>T (p.Ser409Cys)
c.1165A>T (p.Ser389Cys)
n.3607-176T>A
n.4043-176T>A
c.1048A>T (p.Ser350Cys)
c.1066A>T (p.Ser356Cys)
c.823A>T (p.Ser275Cys)
c.856A>T (p.Ser286Cys)
c.874A>T (p.Ser292Cys)
 gnomAD v4
2g.127428441G>ACA1859478PROCc.881G>A (p.Ser294Asn)
c.205G>A
c.983G>A (p.Ser328Asn)
c.1064G>A (p.Ser355Asn)
c.1046G>A (p.Ser349Asn)
c.944G>A (p.Ser315Asn)
n.1332-177C>T
c.1124G>A (p.Ser375Asn)
c.1226G>A (p.Ser409Asn)
c.1166G>A (p.Ser389Asn)
n.3607-177C>T
n.4043-177C>T
c.1049G>A (p.Ser350Asn)
c.1067G>A (p.Ser356Asn)
c.824G>A (p.Ser275Asn)
c.857G>A (p.Ser286Asn)
c.875G>A (p.Ser292Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428441G>CCA348404606PROCc.881G>C (p.Ser294Thr)
c.205G>C
c.983G>C (p.Ser328Thr)
c.1064G>C (p.Ser355Thr)
c.1046G>C (p.Ser349Thr)
c.944G>C (p.Ser315Thr)
n.1332-177C>G
c.1124G>C (p.Ser375Thr)
c.1226G>C (p.Ser409Thr)
c.1166G>C (p.Ser389Thr)
n.3607-177C>G
n.4043-177C>G
c.1049G>C (p.Ser350Thr)
c.1067G>C (p.Ser356Thr)
c.824G>C (p.Ser275Thr)
c.857G>C (p.Ser286Thr)
c.875G>C (p.Ser292Thr)
 dbSNP gnomAD v4
2g.127428441G=CA1286884473PROCc.881G= (p.Ser294=)
c.205G=
c.983G= (p.Ser328=)
c.1064G= (p.Ser355=)
c.1046G= (p.Ser349=)
c.944G= (p.Ser315=)
n.1332-177C=
c.1124G= (p.Ser375=)
c.1226G= (p.Ser409=)
c.1166G= (p.Ser389=)
n.3607-177C=
n.4043-177C=
c.1049G= (p.Ser350=)
c.1067G= (p.Ser356=)
c.824G= (p.Ser275=)
c.857G= (p.Ser286=)
c.875G= (p.Ser292=)
2g.127428441G>TCA348404604PROCc.881G>T (p.Ser294Ile)
c.205G>T
c.983G>T (p.Ser328Ile)
c.1064G>T (p.Ser355Ile)
c.1046G>T (p.Ser349Ile)
c.944G>T (p.Ser315Ile)
n.1332-177C>A
c.1124G>T (p.Ser375Ile)
c.1226G>T (p.Ser409Ile)
c.1166G>T (p.Ser389Ile)
n.3607-177C>A
n.4043-177C>A
c.1049G>T (p.Ser350Ile)
c.1067G>T (p.Ser356Ile)
c.824G>T (p.Ser275Ile)
c.857G>T (p.Ser286Ile)
c.875G>T (p.Ser292Ile)
2g.127428441_127428445dupCA1286884472PROCc.881_885dup (p.Thr296AlafsTer22)
c.205_209dup
c.983_987dup (p.Thr330AlafsTer22)
c.1064_1068dup (p.Thr357AlafsTer22)
c.1046_1050dup (p.Thr351AlafsTer22)
c.944_948dup (p.Thr317AlafsTer22)
n.1332-181_1332-177dup
c.1124_1128dup (p.Thr377AlafsTer22)
c.1226_1230dup (p.Thr411AlafsTer22)
c.1166_1170dup (p.Thr391AlafsTer22)
n.3607-181_3607-177dup
n.4043-181_4043-177dup
c.1049_1053dup (p.Thr352AlafsTer22)
c.1067_1071dup (p.Thr358AlafsTer22)
c.824_828dup (p.Thr277AlafsTer22)
c.857_861dup (p.Thr288AlafsTer22)
c.875_879dup (p.Thr294AlafsTer22)
 dbSNP
2g.127428442C>ACA348404608PROCc.882C>A (p.Ser294Arg)
c.206C>A
c.984C>A (p.Ser328Arg)
c.1065C>A (p.Ser355Arg)
c.1047C>A (p.Ser349Arg)
c.945C>A (p.Ser315Arg)
n.1332-178G>T
c.1125C>A (p.Ser375Arg)
c.1227C>A (p.Ser409Arg)
c.1167C>A (p.Ser389Arg)
n.3607-178G>T
n.4043-178G>T
c.1050C>A (p.Ser350Arg)
c.1068C>A (p.Ser356Arg)
c.825C>A (p.Ser275Arg)
c.858C>A (p.Ser286Arg)
c.876C>A (p.Ser292Arg)
2g.127428442C>GCA348404609PROCc.882C>G (p.Ser294Arg)
c.206C>G
c.984C>G (p.Ser328Arg)
c.1065C>G (p.Ser355Arg)
c.1047C>G (p.Ser349Arg)
c.945C>G (p.Ser315Arg)
n.1332-178G>C
c.1125C>G (p.Ser375Arg)
c.1227C>G (p.Ser409Arg)
c.1167C>G (p.Ser389Arg)
n.3607-178G>C
n.4043-178G>C
c.1050C>G (p.Ser350Arg)
c.1068C>G (p.Ser356Arg)
c.825C>G (p.Ser275Arg)
c.858C>G (p.Ser286Arg)
c.876C>G (p.Ser292Arg)
2g.127428442C>TCA428618899PROCc.882C>T (p.Ser294=)
c.206C>T
c.984C>T (p.Ser328=)
c.1065C>T (p.Ser355=)
c.1047C>T (p.Ser349=)
c.945C>T (p.Ser315=)
n.1332-178G>A
c.1125C>T (p.Ser375=)
c.1227C>T (p.Ser409=)
c.1167C>T (p.Ser389=)
n.3607-178G>A
n.4043-178G>A
c.1050C>T (p.Ser350=)
c.1068C>T (p.Ser356=)
c.825C>T (p.Ser275=)
c.858C>T (p.Ser286=)
c.876C>T (p.Ser292=)
2g.127428443A=CA1286884474PROCc.883A= (p.Thr295=)
c.207A=
c.985A= (p.Thr329=)
c.1066A= (p.Thr356=)
c.1048A= (p.Thr350=)
c.946A= (p.Thr316=)
n.1332-179T=
c.1126A= (p.Thr376=)
c.1228A= (p.Thr410=)
c.1168A= (p.Thr390=)
n.3607-179T=
n.4043-179T=
c.1051A= (p.Thr351=)
c.1069A= (p.Thr357=)
c.826A= (p.Thr276=)
c.859A= (p.Thr287=)
c.877A= (p.Thr293=)
2g.127428443A>CCA348404612PROCc.883A>C (p.Thr295Pro)
c.207A>C
c.985A>C (p.Thr329Pro)
c.1066A>C (p.Thr356Pro)
c.1048A>C (p.Thr350Pro)
c.946A>C (p.Thr316Pro)
n.1332-179T>G
c.1126A>C (p.Thr376Pro)
c.1228A>C (p.Thr410Pro)
c.1168A>C (p.Thr390Pro)
n.3607-179T>G
n.4043-179T>G
c.1051A>C (p.Thr351Pro)
c.1069A>C (p.Thr357Pro)
c.826A>C (p.Thr276Pro)
c.859A>C (p.Thr287Pro)
c.877A>C (p.Thr293Pro)
 dbSNP
2g.127428443A>GCA348404614PROCc.883A>G (p.Thr295Ala)
c.207A>G
c.985A>G (p.Thr329Ala)
c.1066A>G (p.Thr356Ala)
c.1048A>G (p.Thr350Ala)
c.946A>G (p.Thr316Ala)
n.1332-179T>C
c.1126A>G (p.Thr376Ala)
c.1228A>G (p.Thr410Ala)
c.1168A>G (p.Thr390Ala)
n.3607-179T>C
n.4043-179T>C
c.1051A>G (p.Thr351Ala)
c.1069A>G (p.Thr357Ala)
c.826A>G (p.Thr276Ala)
c.859A>G (p.Thr287Ala)
c.877A>G (p.Thr293Ala)
2g.127428443A>TCA348404615PROCc.883A>T (p.Thr295Ser)
c.207A>T
c.985A>T (p.Thr329Ser)
c.1066A>T (p.Thr356Ser)
c.1048A>T (p.Thr350Ser)
c.946A>T (p.Thr316Ser)
n.1332-179T>A
c.1126A>T (p.Thr376Ser)
c.1228A>T (p.Thr410Ser)
c.1168A>T (p.Thr390Ser)
n.3607-179T>A
n.4043-179T>A
c.1051A>T (p.Thr351Ser)
c.1069A>T (p.Thr357Ser)
c.826A>T (p.Thr276Ser)
c.859A>T (p.Thr287Ser)
c.877A>T (p.Thr293Ser)
2g.127428444C>ACA348404617PROCc.884C>A (p.Thr295Asn)
c.208C>A
c.986C>A (p.Thr329Asn)
c.1067C>A (p.Thr356Asn)
c.1049C>A (p.Thr350Asn)
c.947C>A (p.Thr316Asn)
n.1332-180G>T
c.1127C>A (p.Thr376Asn)
c.1229C>A (p.Thr410Asn)
c.1169C>A (p.Thr390Asn)
n.3607-180G>T
n.4043-180G>T
c.1052C>A (p.Thr351Asn)
c.1070C>A (p.Thr357Asn)
c.827C>A (p.Thr276Asn)
c.860C>A (p.Thr287Asn)
c.878C>A (p.Thr293Asn)
2g.127428444C=CA1286884475PROCc.884C= (p.Thr295=)
c.208C=
c.986C= (p.Thr329=)
c.1067C= (p.Thr356=)
c.1049C= (p.Thr350=)
c.947C= (p.Thr316=)
n.1332-180G=
c.1127C= (p.Thr376=)
c.1229C= (p.Thr410=)
c.1169C= (p.Thr390=)
n.3607-180G=
n.4043-180G=
c.1052C= (p.Thr351=)
c.1070C= (p.Thr357=)
c.827C= (p.Thr276=)
c.860C= (p.Thr287=)
c.878C= (p.Thr293=)
2g.127428444C>GCA348404619PROCc.884C>G (p.Thr295Ser)
c.208C>G
c.986C>G (p.Thr329Ser)
c.1067C>G (p.Thr356Ser)
c.1049C>G (p.Thr350Ser)
c.947C>G (p.Thr316Ser)
n.1332-180G>C
c.1127C>G (p.Thr376Ser)
c.1229C>G (p.Thr410Ser)
c.1169C>G (p.Thr390Ser)
n.3607-180G>C
n.4043-180G>C
c.1052C>G (p.Thr351Ser)
c.1070C>G (p.Thr357Ser)
c.827C>G (p.Thr276Ser)
c.860C>G (p.Thr287Ser)
c.878C>G (p.Thr293Ser)
2g.127428444C>TCA1859479PROCc.884C>T (p.Thr295Ile)
c.208C>T
c.986C>T (p.Thr329Ile)
c.1067C>T (p.Thr356Ile)
c.1049C>T (p.Thr350Ile)
c.947C>T (p.Thr316Ile)
n.1332-180G>A
c.1127C>T (p.Thr376Ile)
c.1229C>T (p.Thr410Ile)
c.1169C>T (p.Thr390Ile)
n.3607-180G>A
n.4043-180G>A
c.1052C>T (p.Thr351Ile)
c.1070C>T (p.Thr357Ile)
c.827C>T (p.Thr276Ile)
c.860C>T (p.Thr287Ile)
c.878C>T (p.Thr293Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428445C>ACA428618900PROCc.885C>A (p.Thr295=)
c.209C>A
c.987C>A (p.Thr329=)
c.1068C>A (p.Thr356=)
c.1050C>A (p.Thr350=)
c.948C>A (p.Thr316=)
n.1332-181G>T
c.1128C>A (p.Thr376=)
c.1230C>A (p.Thr410=)
c.1170C>A (p.Thr390=)
n.3607-181G>T
n.4043-181G>T
c.1053C>A (p.Thr351=)
c.1071C>A (p.Thr357=)
c.828C>A (p.Thr276=)
c.861C>A (p.Thr287=)
c.879C>A (p.Thr293=)
 dbSNP
2g.127428445C=CA1286884476PROCc.885C= (p.Thr295=)
c.209C=
c.987C= (p.Thr329=)
c.1068C= (p.Thr356=)
c.1050C= (p.Thr350=)
c.948C= (p.Thr316=)
n.1332-181G=
c.1128C= (p.Thr376=)
c.1230C= (p.Thr410=)
c.1170C= (p.Thr390=)
n.3607-181G=
n.4043-181G=
c.1053C= (p.Thr351=)
c.1071C= (p.Thr357=)
c.828C= (p.Thr276=)
c.861C= (p.Thr287=)
c.879C= (p.Thr293=)
2g.127428445C>GCA428618901PROCc.885C>G (p.Thr295=)
c.209C>G
c.987C>G (p.Thr329=)
c.1068C>G (p.Thr356=)
c.1050C>G (p.Thr350=)
c.948C>G (p.Thr316=)
n.1332-181G>C
c.1128C>G (p.Thr376=)
c.1230C>G (p.Thr410=)
c.1170C>G (p.Thr390=)
n.3607-181G>C
n.4043-181G>C
c.1053C>G (p.Thr351=)
c.1071C>G (p.Thr357=)
c.828C>G (p.Thr276=)
c.861C>G (p.Thr287=)
c.879C>G (p.Thr293=)
2g.127428445C>TCA428618902PROCc.885C>T (p.Thr295=)
c.209C>T
c.987C>T (p.Thr329=)
c.1068C>T (p.Thr356=)
c.1050C>T (p.Thr350=)
c.948C>T (p.Thr316=)
n.1332-181G>A
c.1128C>T (p.Thr376=)
c.1230C>T (p.Thr410=)
c.1170C>T (p.Thr390=)
n.3607-181G>A
n.4043-181G>A
c.1053C>T (p.Thr351=)
c.1071C>T (p.Thr357=)
c.828C>T (p.Thr276=)
c.861C>T (p.Thr287=)
c.879C>T (p.Thr293=)
2g.127428446A=CA1286884477PROCc.886A= (p.Thr296=)
c.210A=
c.988A= (p.Thr330=)
c.1069A= (p.Thr357=)
c.1051A= (p.Thr351=)
c.949A= (p.Thr317=)
n.1332-182T=
c.1129A= (p.Thr377=)
c.1231A= (p.Thr411=)
c.1171A= (p.Thr391=)
n.3607-182T=
n.4043-182T=
c.1054A= (p.Thr352=)
c.1072A= (p.Thr358=)
c.829A= (p.Thr277=)
c.862A= (p.Thr288=)
c.880A= (p.Thr294=)
2g.127428446A>CCA348404621PROCc.886A>C (p.Thr296Pro)
c.210A>C
c.988A>C (p.Thr330Pro)
c.1069A>C (p.Thr357Pro)
c.1051A>C (p.Thr351Pro)
c.949A>C (p.Thr317Pro)
n.1332-182T>G
c.1129A>C (p.Thr377Pro)
c.1231A>C (p.Thr411Pro)
c.1171A>C (p.Thr391Pro)
n.3607-182T>G
n.4043-182T>G
c.1054A>C (p.Thr352Pro)
c.1072A>C (p.Thr358Pro)
c.829A>C (p.Thr277Pro)
c.862A>C (p.Thr288Pro)
c.880A>C (p.Thr294Pro)
 dbSNP
2g.127428446A>GCA348404622PROCc.886A>G (p.Thr296Ala)
c.210A>G
c.988A>G (p.Thr330Ala)
c.1069A>G (p.Thr357Ala)
c.1051A>G (p.Thr351Ala)
c.949A>G (p.Thr317Ala)
n.1332-182T>C
c.1129A>G (p.Thr377Ala)
c.1231A>G (p.Thr411Ala)
c.1171A>G (p.Thr391Ala)
n.3607-182T>C
n.4043-182T>C
c.1054A>G (p.Thr352Ala)
c.1072A>G (p.Thr358Ala)
c.829A>G (p.Thr277Ala)
c.862A>G (p.Thr288Ala)
c.880A>G (p.Thr294Ala)
2g.127428446A>TCA348404623PROCc.886A>T (p.Thr296Ser)
c.210A>T
c.988A>T (p.Thr330Ser)
c.1069A>T (p.Thr357Ser)
c.1051A>T (p.Thr351Ser)
c.949A>T (p.Thr317Ser)
n.1332-182T>A
c.1129A>T (p.Thr377Ser)
c.1231A>T (p.Thr411Ser)
c.1171A>T (p.Thr391Ser)
n.3607-182T>A
n.4043-182T>A
c.1054A>T (p.Thr352Ser)
c.1072A>T (p.Thr358Ser)
c.829A>T (p.Thr277Ser)
c.862A>T (p.Thr288Ser)
c.880A>T (p.Thr294Ser)
2g.127428447C>ACA348404624PROCc.887C>A (p.Thr296Asn)
c.211C>A
c.989C>A (p.Thr330Asn)
c.1070C>A (p.Thr357Asn)
c.1052C>A (p.Thr351Asn)
c.950C>A (p.Thr317Asn)
n.1332-183G>T
c.1130C>A (p.Thr377Asn)
c.1232C>A (p.Thr411Asn)
c.1172C>A (p.Thr391Asn)
n.3607-183G>T
n.4043-183G>T
c.1055C>A (p.Thr352Asn)
c.1073C>A (p.Thr358Asn)
c.830C>A (p.Thr277Asn)
c.863C>A (p.Thr288Asn)
c.881C>A (p.Thr294Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.127428447C=CA1286884478PROCc.887C= (p.Thr296=)
c.211C=
c.989C= (p.Thr330=)
c.1070C= (p.Thr357=)
c.1052C= (p.Thr351=)
c.950C= (p.Thr317=)
n.1332-183G=
c.1130C= (p.Thr377=)
c.1232C= (p.Thr411=)
c.1172C= (p.Thr391=)
n.3607-183G=
n.4043-183G=
c.1055C= (p.Thr352=)
c.1073C= (p.Thr358=)
c.830C= (p.Thr277=)
c.863C= (p.Thr288=)
c.881C= (p.Thr294=)
2g.127428447C>GCA348404626PROCc.887C>G (p.Thr296Ser)
c.211C>G
c.989C>G (p.Thr330Ser)
c.1070C>G (p.Thr357Ser)
c.1052C>G (p.Thr351Ser)
c.950C>G (p.Thr317Ser)
n.1332-183G>C
c.1130C>G (p.Thr377Ser)
c.1232C>G (p.Thr411Ser)
c.1172C>G (p.Thr391Ser)
n.3607-183G>C
n.4043-183G>C
c.1055C>G (p.Thr352Ser)
c.1073C>G (p.Thr358Ser)
c.830C>G (p.Thr277Ser)
c.863C>G (p.Thr288Ser)
c.881C>G (p.Thr294Ser)
2g.127428447C>TCA348404631PROCc.887C>T (p.Thr296Ile)
c.211C>T
c.989C>T (p.Thr330Ile)
c.1070C>T (p.Thr357Ile)
c.1052C>T (p.Thr351Ile)
c.950C>T (p.Thr317Ile)
n.1332-183G>A
c.1130C>T (p.Thr377Ile)
c.1232C>T (p.Thr411Ile)
c.1172C>T (p.Thr391Ile)
n.3607-183G>A
n.4043-183G>A
c.1055C>T (p.Thr352Ile)
c.1073C>T (p.Thr358Ile)
c.830C>T (p.Thr277Ile)
c.863C>T (p.Thr288Ile)
c.881C>T (p.Thr294Ile)
2g.127428448C>ACA428618903PROCc.888C>A (p.Thr296=)
c.212C>A
c.990C>A (p.Thr330=)
c.1071C>A (p.Thr357=)
c.1053C>A (p.Thr351=)
c.951C>A (p.Thr317=)
n.1332-184G>T
c.1131C>A (p.Thr377=)
c.1233C>A (p.Thr411=)
c.1173C>A (p.Thr391=)
n.3607-184G>T
n.4043-184G>T
c.1056C>A (p.Thr352=)
c.1074C>A (p.Thr358=)
c.831C>A (p.Thr277=)
c.864C>A (p.Thr288=)
c.882C>A (p.Thr294=)
2g.127428448C=CA1286884479PROCc.888C= (p.Thr296=)
c.212C=
c.990C= (p.Thr330=)
c.1071C= (p.Thr357=)
c.1053C= (p.Thr351=)
c.951C= (p.Thr317=)
n.1332-184G=
c.1131C= (p.Thr377=)
c.1233C= (p.Thr411=)
c.1173C= (p.Thr391=)
n.3607-184G=
n.4043-184G=
c.1056C= (p.Thr352=)
c.1074C= (p.Thr358=)
c.831C= (p.Thr277=)
c.864C= (p.Thr288=)
c.882C= (p.Thr294=)
2g.127428448C>GCA428618904PROCc.888C>G (p.Thr296=)
c.212C>G
c.990C>G (p.Thr330=)
c.1071C>G (p.Thr357=)
c.1053C>G (p.Thr351=)
c.951C>G (p.Thr317=)
n.1332-184G>C
c.1131C>G (p.Thr377=)
c.1233C>G (p.Thr411=)
c.1173C>G (p.Thr391=)
n.3607-184G>C
n.4043-184G>C
c.1056C>G (p.Thr352=)
c.1074C>G (p.Thr358=)
c.831C>G (p.Thr277=)
c.864C>G (p.Thr288=)
c.882C>G (p.Thr294=)
 COSMIC COSMIC
2g.127428448C>TCA1859480PROCc.888C>T (p.Thr296=)
c.212C>T
c.990C>T (p.Thr330=)
c.1071C>T (p.Thr357=)
c.1053C>T (p.Thr351=)
c.951C>T (p.Thr317=)
n.1332-184G>A
c.1131C>T (p.Thr377=)
c.1233C>T (p.Thr411=)
c.1173C>T (p.Thr391=)
n.3607-184G>A
n.4043-184G>A
c.1056C>T (p.Thr352=)
c.1074C>T (p.Thr358=)
c.831C>T (p.Thr277=)
c.864C>T (p.Thr288=)
c.882C>T (p.Thr294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449_127428451delCA2586969906PROCc.889_891del (p.Asp297del)
c.213_215del
c.991_993del (p.Asp331del)
c.1072_1074del (p.Asp358del)
c.1054_1056del (p.Asp352del)
c.952_954del (p.Asp318del)
n.1332-186_1332-184del
c.1132_1134del (p.Asp378del)
c.1234_1236del (p.Asp412del)
c.1174_1176del (p.Asp392del)
n.3607-186_3607-184del
n.4043-186_4043-184del
c.1057_1059del (p.Asp353del)
c.1075_1077del (p.Asp359del)
c.832_834del (p.Asp278del)
c.865_867del (p.Asp289del)
c.883_885del (p.Asp295del)
2g.127428449G>ACA1859482PROCc.889G>A (p.Asp297Asn)
c.213G>A
c.991G>A (p.Asp331Asn)
c.1072G>A (p.Asp358Asn)
c.1054G>A (p.Asp352Asn)
c.952G>A (p.Asp318Asn)
n.1332-185C>T
c.1132G>A (p.Asp378Asn)
c.1234G>A (p.Asp412Asn)
c.1174G>A (p.Asp392Asn)
n.3607-185C>T
n.4043-185C>T
c.1057G>A (p.Asp353Asn)
c.1075G>A (p.Asp359Asn)
c.832G>A (p.Asp278Asn)
c.865G>A (p.Asp289Asn)
c.883G>A (p.Asp295Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449G>CCA1859481PROCc.889G>C (p.Asp297His)
c.213G>C
c.991G>C (p.Asp331His)
c.1072G>C (p.Asp358His)
c.1054G>C (p.Asp352His)
c.952G>C (p.Asp318His)
n.1332-185C>G
c.1132G>C (p.Asp378His)
c.1234G>C (p.Asp412His)
c.1174G>C (p.Asp392His)
n.3607-185C>G
n.4043-185C>G
c.1057G>C (p.Asp353His)
c.1075G>C (p.Asp359His)
c.832G>C (p.Asp278His)
c.865G>C (p.Asp289His)
c.883G>C (p.Asp295His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428449G=CA1286884480PROCc.889G= (p.Asp297=)
c.213G=
c.991G= (p.Asp331=)
c.1072G= (p.Asp358=)
c.1054G= (p.Asp352=)
c.952G= (p.Asp318=)
n.1332-185C=
c.1132G= (p.Asp378=)
c.1234G= (p.Asp412=)
c.1174G= (p.Asp392=)
n.3607-185C=
n.4043-185C=
c.1057G= (p.Asp353=)
c.1075G= (p.Asp359=)
c.832G= (p.Asp278=)
c.865G= (p.Asp289=)
c.883G= (p.Asp295=)
2g.127428449G>TCA348404637PROCc.889G>T (p.Asp297Tyr)
c.213G>T
c.991G>T (p.Asp331Tyr)
c.1072G>T (p.Asp358Tyr)
c.1054G>T (p.Asp352Tyr)
c.952G>T (p.Asp318Tyr)
n.1332-185C>A
c.1132G>T (p.Asp378Tyr)
c.1234G>T (p.Asp412Tyr)
c.1174G>T (p.Asp392Tyr)
n.3607-185C>A
n.4043-185C>A
c.1057G>T (p.Asp353Tyr)
c.1075G>T (p.Asp359Tyr)
c.832G>T (p.Asp278Tyr)
c.865G>T (p.Asp289Tyr)
c.883G>T (p.Asp295Tyr)
 gnomAD v4
2g.127428449_127428451delinsCATCA2586969907PROCc.889_891delinsCAT (p.Asp297His)
c.213_215delinsCAT
c.991_993delinsCAT (p.Asp331His)
c.1072_1074delinsCAT (p.Asp358His)
c.1054_1056delinsCAT (p.Asp352His)
c.952_954delinsCAT (p.Asp318His)
n.1332-187_1332-185delinsATG
c.1132_1134delinsCAT (p.Asp378His)
c.1234_1236delinsCAT (p.Asp412His)
c.1174_1176delinsCAT (p.Asp392His)
n.3607-187_3607-185delinsATG
n.4043-187_4043-185delinsATG
c.1057_1059delinsCAT (p.Asp353His)
c.1075_1077delinsCAT (p.Asp359His)
c.832_834delinsCAT (p.Asp278His)
c.865_867delinsCAT (p.Asp289His)
c.883_885delinsCAT (p.Asp295His)
2g.127428450A>CCA348404640PROCc.890A>C (p.Asp297Ala)
c.214A>C
c.992A>C (p.Asp331Ala)
c.1073A>C (p.Asp358Ala)
c.1055A>C (p.Asp352Ala)
c.953A>C (p.Asp318Ala)
n.1332-186T>G
c.1133A>C (p.Asp378Ala)
c.1235A>C (p.Asp412Ala)
c.1175A>C (p.Asp392Ala)
n.3607-186T>G
n.4043-186T>G
c.1058A>C (p.Asp353Ala)
c.1076A>C (p.Asp359Ala)
c.833A>C (p.Asp278Ala)
c.866A>C (p.Asp289Ala)
c.884A>C (p.Asp295Ala)
2g.127428450A>GCA348404643PROCc.890A>G (p.Asp297Gly)
c.214A>G
c.992A>G (p.Asp331Gly)
c.1073A>G (p.Asp358Gly)
c.1055A>G (p.Asp352Gly)
c.953A>G (p.Asp318Gly)
n.1332-186T>C
c.1133A>G (p.Asp378Gly)
c.1235A>G (p.Asp412Gly)
c.1175A>G (p.Asp392Gly)
n.3607-186T>C
n.4043-186T>C
c.1058A>G (p.Asp353Gly)
c.1076A>G (p.Asp359Gly)
c.833A>G (p.Asp278Gly)
c.866A>G (p.Asp289Gly)
c.884A>G (p.Asp295Gly)
2g.127428450A>TCA348404646PROCc.890A>T (p.Asp297Val)
c.214A>T
c.992A>T (p.Asp331Val)
c.1073A>T (p.Asp358Val)
c.1055A>T (p.Asp352Val)
c.953A>T (p.Asp318Val)
n.1332-186T>A
c.1133A>T (p.Asp378Val)
c.1235A>T (p.Asp412Val)
c.1175A>T (p.Asp392Val)
n.3607-186T>A
n.4043-186T>A
c.1058A>T (p.Asp353Val)
c.1076A>T (p.Asp359Val)
c.833A>T (p.Asp278Val)
c.866A>T (p.Asp289Val)
c.884A>T (p.Asp295Val)
2g.127428451C>ACA348404650PROCc.891C>A (p.Asp297Glu)
c.215C>A
c.993C>A (p.Asp331Glu)
c.1074C>A (p.Asp358Glu)
c.1056C>A (p.Asp352Glu)
c.954C>A (p.Asp318Glu)
n.1332-187G>T
c.1134C>A (p.Asp378Glu)
c.1236C>A (p.Asp412Glu)
c.1176C>A (p.Asp392Glu)
n.3607-187G>T
n.4043-187G>T
c.1059C>A (p.Asp353Glu)
c.1077C>A (p.Asp359Glu)
c.834C>A (p.Asp278Glu)
c.867C>A (p.Asp289Glu)
c.885C>A (p.Asp295Glu)
2g.127428451C=CA1286884481PROCc.891C= (p.Asp297=)
c.215C=
c.993C= (p.Asp331=)
c.1074C= (p.Asp358=)
c.1056C= (p.Asp352=)
c.954C= (p.Asp318=)
n.1332-187G=
c.1134C= (p.Asp378=)
c.1236C= (p.Asp412=)
c.1176C= (p.Asp392=)
n.3607-187G=
n.4043-187G=
c.1059C= (p.Asp353=)
c.1077C= (p.Asp359=)
c.834C= (p.Asp278=)
c.867C= (p.Asp289=)
c.885C= (p.Asp295=)
2g.127428451C>GCA348404653PROCc.891C>G (p.Asp297Glu)
c.215C>G
c.993C>G (p.Asp331Glu)
c.1074C>G (p.Asp358Glu)
c.1056C>G (p.Asp352Glu)
c.954C>G (p.Asp318Glu)
n.1332-187G>C
c.1134C>G (p.Asp378Glu)
c.1236C>G (p.Asp412Glu)
c.1176C>G (p.Asp392Glu)
n.3607-187G>C
n.4043-187G>C
c.1059C>G (p.Asp353Glu)
c.1077C>G (p.Asp359Glu)
c.834C>G (p.Asp278Glu)
c.867C>G (p.Asp289Glu)
c.885C>G (p.Asp295Glu)
2g.127428451C>TCA1859483PROCc.891C>T (p.Asp297=)
c.215C>T
c.993C>T (p.Asp331=)
c.1074C>T (p.Asp358=)
c.1056C>T (p.Asp352=)
c.954C>T (p.Asp318=)
n.1332-187G>A
c.1134C>T (p.Asp378=)
c.1236C>T (p.Asp412=)
c.1176C>T (p.Asp392=)
n.3607-187G>A
n.4043-187G>A
c.1059C>T (p.Asp353=)
c.1077C>T (p.Asp359=)
c.834C>T (p.Asp278=)
c.867C>T (p.Asp289=)
c.885C>T (p.Asp295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428452A>CCA348404657PROCc.892A>C (p.Asn298His)
c.216A>C
c.994A>C (p.Asn332His)
c.1075A>C (p.Asn359His)
c.1057A>C (p.Asn353His)
c.955A>C (p.Asn319His)
n.1332-188T>G
c.1135A>C (p.Asn379His)
c.1237A>C (p.Asn413His)
c.1177A>C (p.Asn393His)
n.3607-188T>G
n.4043-188T>G
c.1060A>C (p.Asn354His)
c.1078A>C (p.Asn360His)
c.835A>C (p.Asn279His)
c.868A>C (p.Asn290His)
c.886A>C (p.Asn296His)
2g.127428452A>GCA348404660PROCc.892A>G (p.Asn298Asp)
c.216A>G
c.994A>G (p.Asn332Asp)
c.1075A>G (p.Asn359Asp)
c.1057A>G (p.Asn353Asp)
c.955A>G (p.Asn319Asp)
n.1332-188T>C
c.1135A>G (p.Asn379Asp)
c.1237A>G (p.Asn413Asp)
c.1177A>G (p.Asn393Asp)
n.3607-188T>C
n.4043-188T>C
c.1060A>G (p.Asn354Asp)
c.1078A>G (p.Asn360Asp)
c.835A>G (p.Asn279Asp)
c.868A>G (p.Asn290Asp)
c.886A>G (p.Asn296Asp)
 gnomAD v4
2g.127428452A>TCA348404669PROCc.892A>T (p.Asn298Tyr)
c.216A>T
c.994A>T (p.Asn332Tyr)
c.1075A>T (p.Asn359Tyr)
c.1057A>T (p.Asn353Tyr)
c.955A>T (p.Asn319Tyr)
n.1332-188T>A
c.1135A>T (p.Asn379Tyr)
c.1237A>T (p.Asn413Tyr)
c.1177A>T (p.Asn393Tyr)
n.3607-188T>A
n.4043-188T>A
c.1060A>T (p.Asn354Tyr)
c.1078A>T (p.Asn360Tyr)
c.835A>T (p.Asn279Tyr)
c.868A>T (p.Asn290Tyr)
c.886A>T (p.Asn296Tyr)
2g.127428453delCA2586969908PROCc.893del (p.Asn298MetfsTer18)
c.217del
c.995del (p.Asn332MetfsTer18)
c.1076del (p.Asn359MetfsTer18)
c.1058del (p.Asn353MetfsTer18)
c.956del (p.Asn319MetfsTer18)
n.1332-188del
c.1136del (p.Asn379MetfsTer18)
c.1238del (p.Asn413MetfsTer18)
c.1178del (p.Asn393MetfsTer18)
n.3607-188del
n.4043-188del
c.1061del (p.Asn354MetfsTer18)
c.1079del (p.Asn360MetfsTer18)
c.836del (p.Asn279MetfsTer18)
c.869del (p.Asn290MetfsTer18)
c.887del (p.Asn296MetfsTer18)
2g.127428453A>CCA348404677PROCc.893A>C (p.Asn298Thr)
c.217A>C
c.995A>C (p.Asn332Thr)
c.1076A>C (p.Asn359Thr)
c.1058A>C (p.Asn353Thr)
c.956A>C (p.Asn319Thr)
n.1332-189T>G
c.1136A>C (p.Asn379Thr)
c.1238A>C (p.Asn413Thr)
c.1178A>C (p.Asn393Thr)
n.3607-189T>G
n.4043-189T>G
c.1061A>C (p.Asn354Thr)
c.1079A>C (p.Asn360Thr)
c.836A>C (p.Asn279Thr)
c.869A>C (p.Asn290Thr)
c.887A>C (p.Asn296Thr)
2g.127428453A>GCA348404675PROCc.893A>G (p.Asn298Ser)
c.217A>G
c.995A>G (p.Asn332Ser)
c.1076A>G (p.Asn359Ser)
c.1058A>G (p.Asn353Ser)
c.956A>G (p.Asn319Ser)
n.1332-189T>C
c.1136A>G (p.Asn379Ser)
c.1238A>G (p.Asn413Ser)
c.1178A>G (p.Asn393Ser)
n.3607-189T>C
n.4043-189T>C
c.1061A>G (p.Asn354Ser)
c.1079A>G (p.Asn360Ser)
c.836A>G (p.Asn279Ser)
c.869A>G (p.Asn290Ser)
c.887A>G (p.Asn296Ser)
2g.127428453A>TCA348404674PROCc.893A>T (p.Asn298Ile)
c.217A>T
c.995A>T (p.Asn332Ile)
c.1076A>T (p.Asn359Ile)
c.1058A>T (p.Asn353Ile)
c.956A>T (p.Asn319Ile)
n.1332-189T>A
c.1136A>T (p.Asn379Ile)
c.1238A>T (p.Asn413Ile)
c.1178A>T (p.Asn393Ile)
n.3607-189T>A
n.4043-189T>A
c.1061A>T (p.Asn354Ile)
c.1079A>T (p.Asn360Ile)
c.836A>T (p.Asn279Ile)
c.869A>T (p.Asn290Ile)
c.887A>T (p.Asn296Ile)
2g.127428454T>ACA348404681PROCc.894T>A (p.Asn298Lys)
c.218T>A
c.996T>A (p.Asn332Lys)
c.1077T>A (p.Asn359Lys)
c.1059T>A (p.Asn353Lys)
c.957T>A (p.Asn319Lys)
n.1332-190A>T
c.1137T>A (p.Asn379Lys)
c.1239T>A (p.Asn413Lys)
c.1179T>A (p.Asn393Lys)
n.3607-190A>T
n.4043-190A>T
c.1062T>A (p.Asn354Lys)
c.1080T>A (p.Asn360Lys)
c.837T>A (p.Asn279Lys)
c.870T>A (p.Asn290Lys)
c.888T>A (p.Asn296Lys)
2g.127428454T>CCA428618905PROCc.894T>C (p.Asn298=)
c.218T>C
c.996T>C (p.Asn332=)
c.1077T>C (p.Asn359=)
c.1059T>C (p.Asn353=)
c.957T>C (p.Asn319=)
n.1332-190A>G
c.1137T>C (p.Asn379=)
c.1239T>C (p.Asn413=)
c.1179T>C (p.Asn393=)
n.3607-190A>G
n.4043-190A>G
c.1062T>C (p.Asn354=)
c.1080T>C (p.Asn360=)
c.837T>C (p.Asn279=)
c.870T>C (p.Asn290=)
c.888T>C (p.Asn296=)
2g.127428454T>GCA348404683PROCc.894T>G (p.Asn298Lys)
c.218T>G
c.996T>G (p.Asn332Lys)
c.1077T>G (p.Asn359Lys)
c.1059T>G (p.Asn353Lys)
c.957T>G (p.Asn319Lys)
n.1332-190A>C
c.1137T>G (p.Asn379Lys)
c.1239T>G (p.Asn413Lys)
c.1179T>G (p.Asn393Lys)
n.3607-190A>C
n.4043-190A>C
c.1062T>G (p.Asn354Lys)
c.1080T>G (p.Asn360Lys)
c.837T>G (p.Asn279Lys)
c.870T>G (p.Asn290Lys)
c.888T>G (p.Asn296Lys)

Number of alleles fetched