Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.171588362A=CA1206996675PRRC2Cc.8073-17A= (n.8073-17A=)
c.2243-17A=
c.2648-17A=
c.8067-17A= (n.8067-17A=)
n.91-17A=
c.3515-17A=
n.254-17A=
c.8088-17A= (n.8088-17A=)
c.8082-17A= (n.8082-17A=)
c.7986-17A= (n.7986-17A=)
c.7984-17A= (n.7984-17A=)
c.7969-17A= (n.7969-17A=)
c.7923-17A= (n.7923-17A=)
n.8281-17A=
n.8266-17A=
1g.171588362A>GCA526766886PRRC2Cc.8073-17A>G (n.8073-17A>G)
c.2243-17A>G
c.2648-17A>G
c.8067-17A>G (n.8067-17A>G)
n.91-17A>G
c.3515-17A>G
n.254-17A>G
c.8088-17A>G (n.8088-17A>G)
c.8082-17A>G (n.8082-17A>G)
c.7986-17A>G (n.7986-17A>G)
c.7984-17A>G (n.7984-17A>G)
c.7969-17A>G (n.7969-17A>G)
c.7923-17A>G (n.7923-17A>G)
n.8281-17A>G
n.8266-17A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.171588363A=CA1206996676PRRC2Cc.8073-16A= (n.8073-16A=)
c.2243-16A=
c.2648-16A=
c.8067-16A= (n.8067-16A=)
n.91-16A=
c.3515-16A=
n.254-16A=
c.8088-16A= (n.8088-16A=)
c.8082-16A= (n.8082-16A=)
c.7986-16A= (n.7986-16A=)
c.7984-16A= (n.7984-16A=)
c.7969-16A= (n.7969-16A=)
c.7923-16A= (n.7923-16A=)
n.8281-16A=
n.8266-16A=
1g.171588363A>GCA526766887PRRC2Cc.8073-16A>G (n.8073-16A>G)
c.2243-16A>G
c.2648-16A>G
c.8067-16A>G (n.8067-16A>G)
n.91-16A>G
c.3515-16A>G
n.254-16A>G
c.8088-16A>G (n.8088-16A>G)
c.8082-16A>G (n.8082-16A>G)
c.7986-16A>G (n.7986-16A>G)
c.7984-16A>G (n.7984-16A>G)
c.7969-16A>G (n.7969-16A>G)
c.7923-16A>G (n.7923-16A>G)
n.8281-16A>G
n.8266-16A>G
 dbSNP gnomAD v2 gnomAD v4
1g.171588367_171588368delinsCTCA1206996677PRRC2Cc.8073-12_8073-11delinsCT (n.8073-12_8073-11delinsCT)
c.2243-12_2243-11delinsCT
c.2648-12_2648-11delinsCT
c.8067-12_8067-11delinsCT (n.8067-12_8067-11delinsCT)
n.91-12_91-11delinsCT
c.3515-12_3515-11delinsCT
n.254-12_254-11delinsCT
c.8088-12_8088-11delinsCT (n.8088-12_8088-11delinsCT)
c.8082-12_8082-11delinsCT (n.8082-12_8082-11delinsCT)
c.7986-12_7986-11delinsCT (n.7986-12_7986-11delinsCT)
c.7984-12_7984-11delinsCT (n.7984-12_7984-11delinsCT)
c.7969-12_7969-11delinsCT (n.7969-12_7969-11delinsCT)
c.7923-12_7923-11delinsCT (n.7923-12_7923-11delinsCT)
n.8281-12_8281-11delinsCT
n.8266-12_8266-11delinsCT
1g.171588369delCA891093998PRRC2Cc.8073-10del (n.8073-10del)
c.2243-10del
c.2648-10del
c.8067-10del (n.8067-10del)
n.91-10del
c.3515-10del
n.254-10del
c.8088-10del (n.8088-10del)
c.8082-10del (n.8082-10del)
c.7986-10del (n.7986-10del)
c.7984-10del (n.7984-10del)
c.7969-10del (n.7969-10del)
c.7923-10del (n.7923-10del)
n.8281-10del
n.8266-10del
 dbSNP
1g.171588369T>GCA32653177PRRC2Cc.8073-10T>G (n.8073-10T>G)
c.2243-10T>G
c.2648-10T>G
c.8067-10T>G (n.8067-10T>G)
n.91-10T>G
c.3515-10T>G
n.254-10T>G
c.8088-10T>G (n.8088-10T>G)
c.8082-10T>G (n.8082-10T>G)
c.7986-10T>G (n.7986-10T>G)
c.7984-10T>G (n.7984-10T>G)
c.7969-10T>G (n.7969-10T>G)
c.7923-10T>G (n.7923-10T>G)
n.8281-10T>G
n.8266-10T>G
 dbSNP gnomAD v2 gnomAD v4
1g.171588369T=CA1206996678PRRC2Cc.8073-10T= (n.8073-10T=)
c.2243-10T=
c.2648-10T=
c.8067-10T= (n.8067-10T=)
n.91-10T=
c.3515-10T=
n.254-10T=
c.8088-10T= (n.8088-10T=)
c.8082-10T= (n.8082-10T=)
c.7986-10T= (n.7986-10T=)
c.7984-10T= (n.7984-10T=)
c.7969-10T= (n.7969-10T=)
c.7923-10T= (n.7923-10T=)
n.8281-10T=
n.8266-10T=
1g.171588370C>ACA2649101740PRRC2Cc.8073-9C>A (n.8073-9C>A)
c.2243-9C>A
c.2648-9C>A
c.8067-9C>A (n.8067-9C>A)
n.91-9C>A
c.3515-9C>A
n.254-9C>A
c.8088-9C>A (n.8088-9C>A)
c.8082-9C>A (n.8082-9C>A)
c.7986-9C>A (n.7986-9C>A)
c.7984-9C>A (n.7984-9C>A)
c.7969-9C>A (n.7969-9C>A)
c.7923-9C>A (n.7923-9C>A)
n.8281-9C>A
n.8266-9C>A
 gnomAD v4
1g.171588370C=CA1206996679PRRC2Cc.8073-9C= (n.8073-9C=)
c.2243-9C=
c.2648-9C=
c.8067-9C= (n.8067-9C=)
n.91-9C=
c.3515-9C=
n.254-9C=
c.8088-9C= (n.8088-9C=)
c.8082-9C= (n.8082-9C=)
c.7986-9C= (n.7986-9C=)
c.7984-9C= (n.7984-9C=)
c.7969-9C= (n.7969-9C=)
c.7923-9C= (n.7923-9C=)
n.8281-9C=
n.8266-9C=
1g.171588370C>GCA2573603435PRRC2Cc.8073-9C>G (n.8073-9C>G)
c.2243-9C>G
c.2648-9C>G
c.8067-9C>G (n.8067-9C>G)
n.91-9C>G
c.3515-9C>G
n.254-9C>G
c.8088-9C>G (n.8088-9C>G)
c.8082-9C>G (n.8082-9C>G)
c.7986-9C>G (n.7986-9C>G)
c.7984-9C>G (n.7984-9C>G)
c.7969-9C>G (n.7969-9C>G)
c.7923-9C>G (n.7923-9C>G)
n.8281-9C>G
n.8266-9C>G
1g.171588370C>TCA1243911PRRC2Cc.8073-9C>T (n.8073-9C>T)
c.2243-9C>T
c.2648-9C>T
c.8067-9C>T (n.8067-9C>T)
n.91-9C>T
c.3515-9C>T
n.254-9C>T
c.8088-9C>T (n.8088-9C>T)
c.8082-9C>T (n.8082-9C>T)
c.7986-9C>T (n.7986-9C>T)
c.7984-9C>T (n.7984-9C>T)
c.7969-9C>T (n.7969-9C>T)
c.7923-9C>T (n.7923-9C>T)
n.8281-9C>T
n.8266-9C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588372T>CCA2649101741PRRC2Cc.8073-7T>C (n.8073-7T>C)
c.2243-7T>C
c.2648-7T>C
c.8067-7T>C (n.8067-7T>C)
n.91-7T>C
c.3515-7T>C
n.254-7T>C
c.8088-7T>C (n.8088-7T>C)
c.8082-7T>C (n.8082-7T>C)
c.7986-7T>C (n.7986-7T>C)
c.7984-7T>C (n.7984-7T>C)
c.7969-7T>C (n.7969-7T>C)
c.7923-7T>C (n.7923-7T>C)
n.8281-7T>C
n.8266-7T>C
 gnomAD v4
1g.171588373T>CCA1206996681PRRC2Cc.8073-6T>C (n.8073-6T>C)
c.2243-6T>C
c.2648-6T>C
c.8067-6T>C (n.8067-6T>C)
n.91-6T>C
c.3515-6T>C
n.254-6T>C
c.8088-6T>C (n.8088-6T>C)
c.8082-6T>C (n.8082-6T>C)
c.7986-6T>C (n.7986-6T>C)
c.7984-6T>C (n.7984-6T>C)
c.7969-6T>C (n.7969-6T>C)
c.7923-6T>C (n.7923-6T>C)
n.8281-6T>C
n.8266-6T>C
 dbSNP
1g.171588373T=CA1206996680PRRC2Cc.8073-6T= (n.8073-6T=)
c.2243-6T=
c.2648-6T=
c.8067-6T= (n.8067-6T=)
n.91-6T=
c.3515-6T=
n.254-6T=
c.8088-6T= (n.8088-6T=)
c.8082-6T= (n.8082-6T=)
c.7986-6T= (n.7986-6T=)
c.7984-6T= (n.7984-6T=)
c.7969-6T= (n.7969-6T=)
c.7923-6T= (n.7923-6T=)
n.8281-6T=
n.8266-6T=
1g.171588374C=CA1206996682PRRC2Cc.8073-5C= (n.8073-5C=)
c.2243-5C=
c.2648-5C=
c.8067-5C= (n.8067-5C=)
n.91-5C=
c.3515-5C=
n.254-5C=
c.8088-5C= (n.8088-5C=)
c.8082-5C= (n.8082-5C=)
c.7986-5C= (n.7986-5C=)
c.7984-5C= (n.7984-5C=)
c.7969-5C= (n.7969-5C=)
c.7923-5C= (n.7923-5C=)
n.8281-5C=
n.8266-5C=
1g.171588374C>TCA1243912PRRC2Cc.8073-5C>T (n.8073-5C>T)
c.2243-5C>T
c.2648-5C>T
c.8067-5C>T (n.8067-5C>T)
n.91-5C>T
c.3515-5C>T
n.254-5C>T
c.8088-5C>T (n.8088-5C>T)
c.8082-5C>T (n.8082-5C>T)
c.7986-5C>T (n.7986-5C>T)
c.7984-5C>T (n.7984-5C>T)
c.7969-5C>T (n.7969-5C>T)
c.7923-5C>T (n.7923-5C>T)
n.8281-5C>T
n.8266-5C>T
 dbSNP ExAC gnomAD v2
1g.171588377A>CCA343715194PRRC2Cc.8073-2A>C (n.8073-2A>C)
c.2243-2A>C
c.2648-2A>C
c.8067-2A>C (n.8067-2A>C)
n.91-2A>C
c.3515-2A>C
n.254-2A>C
c.8088-2A>C (n.8088-2A>C)
c.8082-2A>C (n.8082-2A>C)
c.7986-2A>C (n.7986-2A>C)
c.7984-2A>C (n.7984-2A>C)
c.7969-2A>C (n.7969-2A>C)
c.7923-2A>C (n.7923-2A>C)
n.8281-2A>C
n.8266-2A>C
1g.171588377A>GCA343715196PRRC2Cc.8073-2A>G (n.8073-2A>G)
c.2243-2A>G
c.2648-2A>G
c.8067-2A>G (n.8067-2A>G)
n.91-2A>G
c.3515-2A>G
n.254-2A>G
c.8088-2A>G (n.8088-2A>G)
c.8082-2A>G (n.8082-2A>G)
c.7986-2A>G (n.7986-2A>G)
c.7984-2A>G (n.7984-2A>G)
c.7969-2A>G (n.7969-2A>G)
c.7923-2A>G (n.7923-2A>G)
n.8281-2A>G
n.8266-2A>G
1g.171588377A>TCA343715192PRRC2Cc.8073-2A>T (n.8073-2A>T)
c.2243-2A>T
c.2648-2A>T
c.8067-2A>T (n.8067-2A>T)
n.91-2A>T
c.3515-2A>T
n.254-2A>T
c.8088-2A>T (n.8088-2A>T)
c.8082-2A>T (n.8082-2A>T)
c.7986-2A>T (n.7986-2A>T)
c.7984-2A>T (n.7984-2A>T)
c.7969-2A>T (n.7969-2A>T)
c.7923-2A>T (n.7923-2A>T)
n.8281-2A>T
n.8266-2A>T
1g.171588378G>ACA343715201PRRC2Cc.8073-1G>A (n.8073-1G>A)
c.2243-1G>A
c.2648-1G>A
c.8067-1G>A (n.8067-1G>A)
n.91-1G>A
c.3515-1G>A
n.254-1G>A
c.8088-1G>A (n.8088-1G>A)
c.8082-1G>A (n.8082-1G>A)
c.7986-1G>A (n.7986-1G>A)
c.7984-1G>A (n.7984-1G>A)
c.7969-1G>A (n.7969-1G>A)
c.7923-1G>A (n.7923-1G>A)
n.8281-1G>A
n.8266-1G>A
1g.171588378G>CCA343715198PRRC2Cc.8073-1G>C (n.8073-1G>C)
c.2243-1G>C
c.2648-1G>C
c.8067-1G>C (n.8067-1G>C)
n.91-1G>C
c.3515-1G>C
n.254-1G>C
c.8088-1G>C (n.8088-1G>C)
c.8082-1G>C (n.8082-1G>C)
c.7986-1G>C (n.7986-1G>C)
c.7984-1G>C (n.7984-1G>C)
c.7969-1G>C (n.7969-1G>C)
c.7923-1G>C (n.7923-1G>C)
n.8281-1G>C
n.8266-1G>C
1g.171588378G>TCA343715200PRRC2Cc.8073-1G>T (n.8073-1G>T)
c.2243-1G>T
c.2648-1G>T
c.8067-1G>T (n.8067-1G>T)
n.91-1G>T
c.3515-1G>T
n.254-1G>T
c.8088-1G>T (n.8088-1G>T)
c.8082-1G>T (n.8082-1G>T)
c.7986-1G>T (n.7986-1G>T)
c.7984-1G>T (n.7984-1G>T)
c.7969-1G>T (n.7969-1G>T)
c.7923-1G>T (n.7923-1G>T)
n.8281-1G>T
n.8266-1G>T
1g.171588379G>ACA421774307PRRC2Cc.8073G>A (p.Arg2691=)
c.2243G>A
c.2648G>A
c.8067G>A (p.Arg2689=)
n.91G>A
c.3515G>A
n.254G>A
c.8088G>A (p.Arg2696=)
c.8082G>A (p.Arg2694=)
c.7986G>A (p.Arg2662=)
c.7984G>A (p.Gly2662Ser)
c.7969G>A (p.Gly2657Ser)
c.7923G>A (p.Arg2641=)
n.8281G>A
n.8266G>A
1g.171588379G>CCA421774308PRRC2Cc.8073G>C (p.Arg2691=)
c.2243G>C
c.2648G>C
c.8067G>C (p.Arg2689=)
n.91G>C
c.3515G>C
n.254G>C
c.8088G>C (p.Arg2696=)
c.8082G>C (p.Arg2694=)
c.7986G>C (p.Arg2662=)
c.7984G>C (p.Gly2662Arg)
c.7969G>C (p.Gly2657Arg)
c.7923G>C (p.Arg2641=)
n.8281G>C
n.8266G>C
1g.171588379G>TCA421774309PRRC2Cc.8073G>T (p.Arg2691=)
c.2243G>T
c.2648G>T
c.8067G>T (p.Arg2689=)
n.91G>T
c.3515G>T
n.254G>T
c.8088G>T (p.Arg2696=)
c.8082G>T (p.Arg2694=)
c.7986G>T (p.Arg2662=)
c.7984G>T (p.Gly2662Cys)
c.7969G>T (p.Gly2657Cys)
c.7923G>T (p.Arg2641=)
n.8281G>T
n.8266G>T
1g.171588380G>ACA343715204PRRC2Cc.8074G>A (p.Ala2692Thr)
c.2244G>A
c.2649G>A
c.8068G>A (p.Ala2690Thr)
n.92G>A
c.3516G>A
n.255G>A
c.8089G>A (p.Ala2697Thr)
c.8083G>A (p.Ala2695Thr)
c.7987G>A (p.Ala2663Thr)
c.7985G>A (p.Gly2662Asp)
c.7970G>A (p.Gly2657Asp)
c.7924G>A (p.Ala2642Thr)
n.8282G>A
n.8267G>A
1g.171588380G>CCA343715205PRRC2Cc.8074G>C (p.Ala2692Pro)
c.2244G>C
c.2649G>C
c.8068G>C (p.Ala2690Pro)
n.92G>C
c.3516G>C
n.255G>C
c.8089G>C (p.Ala2697Pro)
c.8083G>C (p.Ala2695Pro)
c.7987G>C (p.Ala2663Pro)
c.7985G>C (p.Gly2662Ala)
c.7970G>C (p.Gly2657Ala)
c.7924G>C (p.Ala2642Pro)
n.8282G>C
n.8267G>C
1g.171588380G=CA1206996683PRRC2Cc.8074G= (p.Ala2692=)
c.2244G=
c.2649G=
c.8068G= (p.Ala2690=)
n.92G=
c.3516G=
n.255G=
c.8089G= (p.Ala2697=)
c.8083G= (p.Ala2695=)
c.7987G= (p.Ala2663=)
c.7985G= (p.Gly2662=)
c.7970G= (p.Gly2657=)
c.7924G= (p.Ala2642=)
n.8282G=
n.8267G=
1g.171588380G>TCA343715208PRRC2Cc.8074G>T (p.Ala2692Ser)
c.2244G>T
c.2649G>T
c.8068G>T (p.Ala2690Ser)
n.92G>T
c.3516G>T
n.255G>T
c.8089G>T (p.Ala2697Ser)
c.8083G>T (p.Ala2695Ser)
c.7987G>T (p.Ala2663Ser)
c.7985G>T (p.Gly2662Val)
c.7970G>T (p.Gly2657Val)
c.7924G>T (p.Ala2642Ser)
n.8282G>T
n.8267G>T
1g.171588381C>ACA343715210PRRC2Cc.8075C>A (p.Ala2692Asp)
c.2245C>A
c.2650C>A
c.8069C>A (p.Ala2690Asp)
n.93C>A
c.3517C>A
n.256C>A
c.8090C>A (p.Ala2697Asp)
c.8084C>A (p.Ala2695Asp)
c.7988C>A (p.Ala2663Asp)
c.7986C>A (p.Gly2662=)
c.7971C>A (p.Gly2657=)
c.7925C>A (p.Ala2642Asp)
n.8283C>A
n.8268C>A
1g.171588381C>GCA343715212PRRC2Cc.8075C>G (p.Ala2692Gly)
c.2245C>G
c.2650C>G
c.8069C>G (p.Ala2690Gly)
n.93C>G
c.3517C>G
n.256C>G
c.8090C>G (p.Ala2697Gly)
c.8084C>G (p.Ala2695Gly)
c.7988C>G (p.Ala2663Gly)
c.7986C>G (p.Gly2662=)
c.7971C>G (p.Gly2657=)
c.7925C>G (p.Ala2642Gly)
n.8283C>G
n.8268C>G
1g.171588381C>TCA343715214PRRC2Cc.8075C>T (p.Ala2692Val)
c.2245C>T
c.2650C>T
c.8069C>T (p.Ala2690Val)
n.93C>T
c.3517C>T
n.256C>T
c.8090C>T (p.Ala2697Val)
c.8084C>T (p.Ala2695Val)
c.7988C>T (p.Ala2663Val)
c.7986C>T (p.Gly2662=)
c.7971C>T (p.Gly2657=)
c.7925C>T (p.Ala2642Val)
n.8283C>T
n.8268C>T
1g.171588383_171588385dupCA526766888PRRC2Cc.8077_8079dup (p.Thr2693_Ser2694insThr)
c.2247_2249dup
c.2652_2654dup
c.8071_8073dup (p.Thr2691_Ser2692insThr)
n.95_97dup
c.3519_3521dup
n.258_260dup
c.8092_8094dup (p.Thr2698_Ser2699insThr)
c.8086_8088dup (p.Thr2696_Ser2697insThr)
c.7990_7992dup (p.Thr2664_Ser2665insThr)
c.7988_7990dup (p.Tyr2663_Phe2664insTyr)
c.7973_7975dup (p.Tyr2658_Phe2659insTyr)
c.7927_7929dup (p.Thr2643_Ser2644insThr)
n.8285_8287dup
n.8270_8272dup
 dbSNP gnomAD v2 gnomAD v4
1g.171588382T>ACA421774310PRRC2Cc.8076T>A (p.Ala2692=)
c.2246T>A
c.2651T>A
c.8070T>A (p.Ala2690=)
n.94T>A
c.3518T>A
n.257T>A
c.8091T>A (p.Ala2697=)
c.8085T>A (p.Ala2695=)
c.7989T>A (p.Ala2663=)
c.7987T>A (p.Tyr2663Asn)
c.7972T>A (p.Tyr2658Asn)
c.7926T>A (p.Ala2642=)
n.8284T>A
n.8269T>A
1g.171588382T>CCA421774311PRRC2Cc.8076T>C (p.Ala2692=)
c.2246T>C
c.2651T>C
c.8070T>C (p.Ala2690=)
n.94T>C
c.3518T>C
n.257T>C
c.8091T>C (p.Ala2697=)
c.8085T>C (p.Ala2695=)
c.7989T>C (p.Ala2663=)
c.7987T>C (p.Tyr2663His)
c.7972T>C (p.Tyr2658His)
c.7926T>C (p.Ala2642=)
n.8284T>C
n.8269T>C
1g.171588382T>GCA421774312PRRC2Cc.8076T>G (p.Ala2692=)
c.2246T>G
c.2651T>G
c.8070T>G (p.Ala2690=)
n.94T>G
c.3518T>G
n.257T>G
c.8091T>G (p.Ala2697=)
c.8085T>G (p.Ala2695=)
c.7989T>G (p.Ala2663=)
c.7987T>G (p.Tyr2663Asp)
c.7972T>G (p.Tyr2658Asp)
c.7926T>G (p.Ala2642=)
n.8284T>G
n.8269T>G
1g.171588383A=CA1206996684PRRC2Cc.8077A= (p.Thr2693=)
c.2247A=
c.2652A=
c.8071A= (p.Thr2691=)
n.95A=
c.3519A=
n.258A=
c.8092A= (p.Thr2698=)
c.8086A= (p.Thr2696=)
c.7990A= (p.Thr2664=)
c.7988A= (p.Tyr2663=)
c.7973A= (p.Tyr2658=)
c.7927A= (p.Thr2643=)
n.8285A=
n.8270A=
1g.171588383A>CCA343715216PRRC2Cc.8077A>C (p.Thr2693Pro)
c.2247A>C
c.2652A>C
c.8071A>C (p.Thr2691Pro)
n.95A>C
c.3519A>C
n.258A>C
c.8092A>C (p.Thr2698Pro)
c.8086A>C (p.Thr2696Pro)
c.7990A>C (p.Thr2664Pro)
c.7988A>C (p.Tyr2663Ser)
c.7973A>C (p.Tyr2658Ser)
c.7927A>C (p.Thr2643Pro)
n.8285A>C
n.8270A>C
1g.171588383A>GCA1243913PRRC2Cc.8077A>G (p.Thr2693Ala)
c.2247A>G
c.2652A>G
c.8071A>G (p.Thr2691Ala)
n.95A>G
c.3519A>G
n.258A>G
c.8092A>G (p.Thr2698Ala)
c.8086A>G (p.Thr2696Ala)
c.7990A>G (p.Thr2664Ala)
c.7988A>G (p.Tyr2663Cys)
c.7973A>G (p.Tyr2658Cys)
c.7927A>G (p.Thr2643Ala)
n.8285A>G
n.8270A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588383A>TCA343715219PRRC2Cc.8077A>T (p.Thr2693Ser)
c.2247A>T
c.2652A>T
c.8071A>T (p.Thr2691Ser)
n.95A>T
c.3519A>T
n.258A>T
c.8092A>T (p.Thr2698Ser)
c.8086A>T (p.Thr2696Ser)
c.7990A>T (p.Thr2664Ser)
c.7988A>T (p.Tyr2663Phe)
c.7973A>T (p.Tyr2658Phe)
c.7927A>T (p.Thr2643Ser)
n.8285A>T
n.8270A>T
1g.171588384C>ACA343715223PRRC2Cc.8078C>A (p.Thr2693Asn)
c.2248C>A
c.2653C>A
c.8072C>A (p.Thr2691Asn)
n.96C>A
c.3520C>A
n.259C>A
c.8093C>A (p.Thr2698Asn)
c.8087C>A (p.Thr2696Asn)
c.7991C>A (p.Thr2664Asn)
c.7989C>A (p.Tyr2663Ter)
c.7974C>A (p.Tyr2658Ter)
c.7928C>A (p.Thr2643Asn)
n.8286C>A
n.8271C>A
1g.171588384C>GCA343715222PRRC2Cc.8078C>G (p.Thr2693Ser)
c.2248C>G
c.2653C>G
c.8072C>G (p.Thr2691Ser)
n.96C>G
c.3520C>G
n.259C>G
c.8093C>G (p.Thr2698Ser)
c.8087C>G (p.Thr2696Ser)
c.7991C>G (p.Thr2664Ser)
c.7989C>G (p.Tyr2663Ter)
c.7974C>G (p.Tyr2658Ter)
c.7928C>G (p.Thr2643Ser)
n.8286C>G
n.8271C>G
1g.171588384C>TCA343715221PRRC2Cc.8078C>T (p.Thr2693Ile)
c.2248C>T
c.2653C>T
c.8072C>T (p.Thr2691Ile)
n.96C>T
c.3520C>T
n.259C>T
c.8093C>T (p.Thr2698Ile)
c.8087C>T (p.Thr2696Ile)
c.7991C>T (p.Thr2664Ile)
c.7989C>T (p.Tyr2663=)
c.7974C>T (p.Tyr2658=)
c.7928C>T (p.Thr2643Ile)
n.8286C>T
n.8271C>T
 gnomAD v4
1g.171588385T>ACA421774313PRRC2Cc.8079T>A (p.Thr2693=)
c.2249T>A
c.2654T>A
c.8073T>A (p.Thr2691=)
n.97T>A
c.3521T>A
n.260T>A
c.8094T>A (p.Thr2698=)
c.8088T>A (p.Thr2696=)
c.7992T>A (p.Thr2664=)
c.7990T>A (p.Phe2664Ile)
c.7975T>A (p.Phe2659Ile)
c.7929T>A (p.Thr2643=)
n.8287T>A
n.8272T>A
1g.171588385T>CCA421774314PRRC2Cc.8079T>C (p.Thr2693=)
c.2249T>C
c.2654T>C
c.8073T>C (p.Thr2691=)
n.97T>C
c.3521T>C
n.260T>C
c.8094T>C (p.Thr2698=)
c.8088T>C (p.Thr2696=)
c.7992T>C (p.Thr2664=)
c.7990T>C (p.Phe2664Leu)
c.7975T>C (p.Phe2659Leu)
c.7929T>C (p.Thr2643=)
n.8287T>C
n.8272T>C
1g.171588385T>GCA421774315PRRC2Cc.8079T>G (p.Thr2693=)
c.2249T>G
c.2654T>G
c.8073T>G (p.Thr2691=)
n.97T>G
c.3521T>G
n.260T>G
c.8094T>G (p.Thr2698=)
c.8088T>G (p.Thr2696=)
c.7992T>G (p.Thr2664=)
c.7990T>G (p.Phe2664Val)
c.7975T>G (p.Phe2659Val)
c.7929T>G (p.Thr2643=)
n.8287T>G
n.8272T>G
1g.171588386T>ACA343715225PRRC2Cc.8080T>A (p.Ser2694Thr)
c.2250T>A
c.2655T>A
c.8074T>A (p.Ser2692Thr)
n.98T>A
c.3522T>A
n.261T>A
c.8095T>A (p.Ser2699Thr)
c.8089T>A (p.Ser2697Thr)
c.7993T>A (p.Ser2665Thr)
c.7991T>A (p.Phe2664Tyr)
c.7976T>A (p.Phe2659Tyr)
c.7930T>A (p.Ser2644Thr)
n.8288T>A
n.8273T>A
1g.171588386T>CCA343715227PRRC2Cc.8080T>C (p.Ser2694Pro)
c.2250T>C
c.2655T>C
c.8074T>C (p.Ser2692Pro)
n.98T>C
c.3522T>C
n.261T>C
c.8095T>C (p.Ser2699Pro)
c.8089T>C (p.Ser2697Pro)
c.7993T>C (p.Ser2665Pro)
c.7991T>C (p.Phe2664Ser)
c.7976T>C (p.Phe2659Ser)
c.7930T>C (p.Ser2644Pro)
n.8288T>C
n.8273T>C
1g.171588386T>GCA343715229PRRC2Cc.8080T>G (p.Ser2694Ala)
c.2250T>G
c.2655T>G
c.8074T>G (p.Ser2692Ala)
n.98T>G
c.3522T>G
n.261T>G
c.8095T>G (p.Ser2699Ala)
c.8089T>G (p.Ser2697Ala)
c.7993T>G (p.Ser2665Ala)
c.7991T>G (p.Phe2664Cys)
c.7976T>G (p.Phe2659Cys)
c.7930T>G (p.Ser2644Ala)
n.8288T>G
n.8273T>G
1g.171588387C>ACA343715231PRRC2Cc.8081C>A (p.Ser2694Tyr)
c.2251C>A
c.2656C>A
c.8075C>A (p.Ser2692Tyr)
n.99C>A
c.3523C>A
n.262C>A
c.8096C>A (p.Ser2699Tyr)
c.8090C>A (p.Ser2697Tyr)
c.7994C>A (p.Ser2665Tyr)
c.7992C>A (p.Phe2664Leu)
c.7977C>A (p.Phe2659Leu)
c.7931C>A (p.Ser2644Tyr)
n.8289C>A
n.8274C>A
1g.171588387C=CA1206996685PRRC2Cc.8081C= (p.Ser2694=)
c.2251C=
c.2656C=
c.8075C= (p.Ser2692=)
n.99C=
c.3523C=
n.262C=
c.8096C= (p.Ser2699=)
c.8090C= (p.Ser2697=)
c.7994C= (p.Ser2665=)
c.7992C= (p.Phe2664=)
c.7977C= (p.Phe2659=)
c.7931C= (p.Ser2644=)
n.8289C=
n.8274C=
1g.171588387C>GCA343715233PRRC2Cc.8081C>G (p.Ser2694Cys)
c.2251C>G
c.2656C>G
c.8075C>G (p.Ser2692Cys)
n.99C>G
c.3523C>G
n.262C>G
c.8096C>G (p.Ser2699Cys)
c.8090C>G (p.Ser2697Cys)
c.7994C>G (p.Ser2665Cys)
c.7992C>G (p.Phe2664Leu)
c.7977C>G (p.Phe2659Leu)
c.7931C>G (p.Ser2644Cys)
n.8289C>G
n.8274C>G
 dbSNP gnomAD v4
1g.171588387C>TCA343715234PRRC2Cc.8081C>T (p.Ser2694Phe)
c.2251C>T
c.2656C>T
c.8075C>T (p.Ser2692Phe)
n.99C>T
c.3523C>T
n.262C>T
c.8096C>T (p.Ser2699Phe)
c.8090C>T (p.Ser2697Phe)
c.7994C>T (p.Ser2665Phe)
c.7992C>T (p.Phe2664=)
c.7977C>T (p.Phe2659=)
c.7931C>T (p.Ser2644Phe)
n.8289C>T
n.8274C>T
1g.171588388T>ACA421774318PRRC2Cc.8082T>A (p.Ser2694=)
c.2252T>A
c.2657T>A
c.8076T>A (p.Ser2692=)
n.100T>A
c.3524T>A
n.263T>A
c.8097T>A (p.Ser2699=)
c.8091T>A (p.Ser2697=)
c.7995T>A (p.Ser2665=)
c.7993T>A (p.Tyr2665Asn)
c.7978T>A (p.Tyr2660Asn)
c.7932T>A (p.Ser2644=)
n.8290T>A
n.8275T>A
1g.171588388T>CCA421774317PRRC2Cc.8082T>C (p.Ser2694=)
c.2252T>C
c.2657T>C
c.8076T>C (p.Ser2692=)
n.100T>C
c.3524T>C
n.263T>C
c.8097T>C (p.Ser2699=)
c.8091T>C (p.Ser2697=)
c.7995T>C (p.Ser2665=)
c.7993T>C (p.Tyr2665His)
c.7978T>C (p.Tyr2660His)
c.7932T>C (p.Ser2644=)
n.8290T>C
n.8275T>C
1g.171588388T>GCA421774316PRRC2Cc.8082T>G (p.Ser2694=)
c.2252T>G
c.2657T>G
c.8076T>G (p.Ser2692=)
n.100T>G
c.3524T>G
n.263T>G
c.8097T>G (p.Ser2699=)
c.8091T>G (p.Ser2697=)
c.7995T>G (p.Ser2665=)
c.7993T>G (p.Tyr2665Asp)
c.7978T>G (p.Tyr2660Asp)
c.7932T>G (p.Ser2644=)
n.8290T>G
n.8275T>G
1g.171588389A>CCA343715237PRRC2Cc.8083A>C (p.Thr2695Pro)
c.2253A>C
c.2658A>C
c.8077A>C (p.Thr2693Pro)
n.101A>C
c.3525A>C
n.264A>C
c.8098A>C (p.Thr2700Pro)
c.8092A>C (p.Thr2698Pro)
c.7996A>C (p.Thr2666Pro)
c.7994A>C (p.Tyr2665Ser)
c.7979A>C (p.Tyr2660Ser)
c.7933A>C (p.Thr2645Pro)
n.8291A>C
n.8276A>C
1g.171588389A>GCA343715238PRRC2Cc.8083A>G (p.Thr2695Ala)
c.2253A>G
c.2658A>G
c.8077A>G (p.Thr2693Ala)
n.101A>G
c.3525A>G
n.264A>G
c.8098A>G (p.Thr2700Ala)
c.8092A>G (p.Thr2698Ala)
c.7996A>G (p.Thr2666Ala)
c.7994A>G (p.Tyr2665Cys)
c.7979A>G (p.Tyr2660Cys)
c.7933A>G (p.Thr2645Ala)
n.8291A>G
n.8276A>G
 gnomAD v4
1g.171588389A>TCA343715240PRRC2Cc.8083A>T (p.Thr2695Ser)
c.2253A>T
c.2658A>T
c.8077A>T (p.Thr2693Ser)
n.101A>T
c.3525A>T
n.264A>T
c.8098A>T (p.Thr2700Ser)
c.8092A>T (p.Thr2698Ser)
c.7996A>T (p.Thr2666Ser)
c.7994A>T (p.Tyr2665Phe)
c.7979A>T (p.Tyr2660Phe)
c.7933A>T (p.Thr2645Ser)
n.8291A>T
n.8276A>T
1g.171588390C>ACA343715241PRRC2Cc.8084C>A (p.Thr2695Lys)
c.2254C>A
c.2659C>A
c.8078C>A (p.Thr2693Lys)
n.102C>A
c.3526C>A
n.265C>A
c.8099C>A (p.Thr2700Lys)
c.8093C>A (p.Thr2698Lys)
c.7997C>A (p.Thr2666Lys)
c.7995C>A (p.Tyr2665Ter)
c.7980C>A (p.Tyr2660Ter)
c.7934C>A (p.Thr2645Lys)
n.8292C>A
n.8277C>A
1g.171588390C>GCA343715242PRRC2Cc.8084C>G (p.Thr2695Arg)
c.2254C>G
c.2659C>G
c.8078C>G (p.Thr2693Arg)
n.102C>G
c.3526C>G
n.265C>G
c.8099C>G (p.Thr2700Arg)
c.8093C>G (p.Thr2698Arg)
c.7997C>G (p.Thr2666Arg)
c.7995C>G (p.Tyr2665Ter)
c.7980C>G (p.Tyr2660Ter)
c.7934C>G (p.Thr2645Arg)
n.8292C>G
n.8277C>G
1g.171588390C>TCA343715244PRRC2Cc.8084C>T (p.Thr2695Ile)
c.2254C>T
c.2659C>T
c.8078C>T (p.Thr2693Ile)
n.102C>T
c.3526C>T
n.265C>T
c.8099C>T (p.Thr2700Ile)
c.8093C>T (p.Thr2698Ile)
c.7997C>T (p.Thr2666Ile)
c.7995C>T (p.Tyr2665=)
c.7980C>T (p.Tyr2660=)
c.7934C>T (p.Thr2645Ile)
n.8292C>T
n.8277C>T
1g.171588391A=CA1145191342PRRC2Cc.8085A= (p.Thr2695=)
c.2255A=
c.2660A=
c.8079A= (p.Thr2693=)
n.103A=
c.3527A=
n.266A=
c.8100A= (p.Thr2700=)
c.8094A= (p.Thr2698=)
c.7998A= (p.Thr2666=)
c.7996A= (p.Lys2666=)
c.7981A= (p.Lys2661=)
c.7935A= (p.Thr2645=)
n.8293A=
n.8278A=
1g.171588391A>CCA421774319PRRC2Cc.8085A>C (p.Thr2695=)
c.2255A>C
c.2660A>C
c.8079A>C (p.Thr2693=)
n.103A>C
c.3527A>C
n.266A>C
c.8100A>C (p.Thr2700=)
c.8094A>C (p.Thr2698=)
c.7998A>C (p.Thr2666=)
c.7996A>C (p.Lys2666Gln)
c.7981A>C (p.Lys2661Gln)
c.7935A>C (p.Thr2645=)
n.8293A>C
n.8278A>C
1g.171588391A>GCA1243914PRRC2Cc.8085A>G (p.Thr2695=)
c.2255A>G
c.2660A>G
c.8079A>G (p.Thr2693=)
n.103A>G
c.3527A>G
n.266A>G
c.8100A>G (p.Thr2700=)
c.8094A>G (p.Thr2698=)
c.7998A>G (p.Thr2666=)
c.7996A>G (p.Lys2666Glu)
c.7981A>G (p.Lys2661Glu)
c.7935A>G (p.Thr2645=)
n.8293A>G
n.8278A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588391A>TCA421774320PRRC2Cc.8085A>T (p.Thr2695=)
c.2255A>T
c.2660A>T
c.8079A>T (p.Thr2693=)
n.103A>T
c.3527A>T
n.266A>T
c.8100A>T (p.Thr2700=)
c.8094A>T (p.Thr2698=)
c.7998A>T (p.Thr2666=)
c.7996A>T (p.Lys2666Ter)
c.7981A>T (p.Lys2661Ter)
c.7935A>T (p.Thr2645=)
n.8293A>T
n.8278A>T
1g.171588392A>CCA343715250PRRC2Cc.8086A>C (p.Ser2696Arg)
c.2256A>C
c.2661A>C
c.8080A>C (p.Ser2694Arg)
n.104A>C
c.3528A>C
n.267A>C
c.8101A>C (p.Ser2701Arg)
c.8095A>C (p.Ser2699Arg)
c.7999A>C (p.Ser2667Arg)
c.7997A>C (p.Lys2666Thr)
c.7982A>C (p.Lys2661Thr)
c.7936A>C (p.Ser2646Arg)
n.8294A>C
n.8279A>C
1g.171588392A>GCA343715252PRRC2Cc.8086A>G (p.Ser2696Gly)
c.2256A>G
c.2661A>G
c.8080A>G (p.Ser2694Gly)
n.104A>G
c.3528A>G
n.267A>G
c.8101A>G (p.Ser2701Gly)
c.8095A>G (p.Ser2699Gly)
c.7999A>G (p.Ser2667Gly)
c.7997A>G (p.Lys2666Arg)
c.7982A>G (p.Lys2661Arg)
c.7936A>G (p.Ser2646Gly)
n.8294A>G
n.8279A>G
 COSMIC COSMIC
1g.171588392A>TCA343715247PRRC2Cc.8086A>T (p.Ser2696Cys)
c.2256A>T
c.2661A>T
c.8080A>T (p.Ser2694Cys)
n.104A>T
c.3528A>T
n.267A>T
c.8101A>T (p.Ser2701Cys)
c.8095A>T (p.Ser2699Cys)
c.7999A>T (p.Ser2667Cys)
c.7997A>T (p.Lys2666Met)
c.7982A>T (p.Lys2661Met)
c.7936A>T (p.Ser2646Cys)
n.8294A>T
n.8279A>T
1g.171588393G>ACA343715253PRRC2Cc.8087G>A (p.Ser2696Asn)
c.2257G>A
c.2662G>A
c.8081G>A (p.Ser2694Asn)
n.105G>A
c.3529G>A
n.268G>A
c.8102G>A (p.Ser2701Asn)
c.8096G>A (p.Ser2699Asn)
c.8000G>A (p.Ser2667Asn)
c.7998G>A (p.Lys2666=)
c.7983G>A (p.Lys2661=)
c.7937G>A (p.Ser2646Asn)
n.8295G>A
n.8280G>A
1g.171588393G>CCA343715255PRRC2Cc.8087G>C (p.Ser2696Thr)
c.2257G>C
c.2662G>C
c.8081G>C (p.Ser2694Thr)
n.105G>C
c.3529G>C
n.268G>C
c.8102G>C (p.Ser2701Thr)
c.8096G>C (p.Ser2699Thr)
c.8000G>C (p.Ser2667Thr)
c.7998G>C (p.Lys2666Asn)
c.7983G>C (p.Lys2661Asn)
c.7937G>C (p.Ser2646Thr)
n.8295G>C
n.8280G>C
1g.171588393G>TCA343715257PRRC2Cc.8087G>T (p.Ser2696Ile)
c.2257G>T
c.2662G>T
c.8081G>T (p.Ser2694Ile)
n.105G>T
c.3529G>T
n.268G>T
c.8102G>T (p.Ser2701Ile)
c.8096G>T (p.Ser2699Ile)
c.8000G>T (p.Ser2667Ile)
c.7998G>T (p.Lys2666Asn)
c.7983G>T (p.Lys2661Asn)
c.7937G>T (p.Ser2646Ile)
n.8295G>T
n.8280G>T
1g.171588394T>ACA343715259PRRC2Cc.8088T>A (p.Ser2696Arg)
c.2258T>A
c.2663T>A
c.8082T>A (p.Ser2694Arg)
n.106T>A
c.3530T>A
n.269T>A
c.8103T>A (p.Ser2701Arg)
c.8097T>A (p.Ser2699Arg)
c.8001T>A (p.Ser2667Arg)
c.7999T>A (p.Ser2667Thr)
c.7984T>A (p.Ser2662Thr)
c.7938T>A (p.Ser2646Arg)
n.8296T>A
n.8281T>A
1g.171588394T>CCA32653187PRRC2Cc.8088T>C (p.Ser2696=)
c.2258T>C
c.2663T>C
c.8082T>C (p.Ser2694=)
n.106T>C
c.3530T>C
n.269T>C
c.8103T>C (p.Ser2701=)
c.8097T>C (p.Ser2699=)
c.8001T>C (p.Ser2667=)
c.7999T>C (p.Ser2667Pro)
c.7984T>C (p.Ser2662Pro)
c.7938T>C (p.Ser2646=)
n.8296T>C
n.8281T>C
 dbSNP
1g.171588394T>GCA343715261PRRC2Cc.8088T>G (p.Ser2696Arg)
c.2258T>G
c.2663T>G
c.8082T>G (p.Ser2694Arg)
n.106T>G
c.3530T>G
n.269T>G
c.8103T>G (p.Ser2701Arg)
c.8097T>G (p.Ser2699Arg)
c.8001T>G (p.Ser2667Arg)
c.7999T>G (p.Ser2667Ala)
c.7984T>G (p.Ser2662Ala)
c.7938T>G (p.Ser2646Arg)
n.8296T>G
n.8281T>G
 gnomAD v4
1g.171588394T=CA1143503254PRRC2Cc.8088T= (p.Ser2696=)
c.2258T=
c.2663T=
c.8082T= (p.Ser2694=)
n.106T=
c.3530T=
n.269T=
c.8103T= (p.Ser2701=)
c.8097T= (p.Ser2699=)
c.8001T= (p.Ser2667=)
c.7999T= (p.Ser2667=)
c.7984T= (p.Ser2662=)
c.7938T= (p.Ser2646=)
n.8296T=
n.8281T=
1g.171588395C>ACA343715263PRRC2Cc.8089C>A (p.Pro2697Thr)
c.2259C>A
c.2664C>A
c.8083C>A (p.Pro2695Thr)
n.107C>A
c.3531C>A
n.270C>A
c.8104C>A (p.Pro2702Thr)
c.8098C>A (p.Pro2700Thr)
c.8002C>A (p.Pro2668Thr)
c.8000C>A (p.Ser2667Tyr)
c.7985C>A (p.Ser2662Tyr)
c.7939C>A (p.Pro2647Thr)
n.8297C>A
n.8282C>A
1g.171588395C=CA1206996686PRRC2Cc.8089C= (p.Pro2697=)
c.2259C=
c.2664C=
c.8083C= (p.Pro2695=)
n.107C=
c.3531C=
n.270C=
c.8104C= (p.Pro2702=)
c.8098C= (p.Pro2700=)
c.8002C= (p.Pro2668=)
c.8000C= (p.Ser2667=)
c.7985C= (p.Ser2662=)
c.7939C= (p.Pro2647=)
n.8297C=
n.8282C=
1g.171588395C>GCA343715264PRRC2Cc.8089C>G (p.Pro2697Ala)
c.2259C>G
c.2664C>G
c.8083C>G (p.Pro2695Ala)
n.107C>G
c.3531C>G
n.270C>G
c.8104C>G (p.Pro2702Ala)
c.8098C>G (p.Pro2700Ala)
c.8002C>G (p.Pro2668Ala)
c.8000C>G (p.Ser2667Cys)
c.7985C>G (p.Ser2662Cys)
c.7939C>G (p.Pro2647Ala)
n.8297C>G
n.8282C>G
1g.171588395C>TCA32653191PRRC2Cc.8089C>T (p.Pro2697Ser)
c.2259C>T
c.2664C>T
c.8083C>T (p.Pro2695Ser)
n.107C>T
c.3531C>T
n.270C>T
c.8104C>T (p.Pro2702Ser)
c.8098C>T (p.Pro2700Ser)
c.8002C>T (p.Pro2668Ser)
c.8000C>T (p.Ser2667Phe)
c.7985C>T (p.Ser2662Phe)
c.7939C>T (p.Pro2647Ser)
n.8297C>T
n.8282C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.171588396C>ACA343715266PRRC2Cc.8090C>A (p.Pro2697Gln)
c.2260C>A
c.2665C>A
c.8084C>A (p.Pro2695Gln)
n.108C>A
c.3532C>A
n.271C>A
c.8105C>A (p.Pro2702Gln)
c.8099C>A (p.Pro2700Gln)
c.8003C>A (p.Pro2668Gln)
c.8001C>A (p.Ser2667=)
c.7986C>A (p.Ser2662=)
c.7940C>A (p.Pro2647Gln)
n.8298C>A
n.8283C>A
1g.171588396C=CA1206996687PRRC2Cc.8090C= (p.Pro2697=)
c.2260C=
c.2665C=
c.8084C= (p.Pro2695=)
n.108C=
c.3532C=
n.271C=
c.8105C= (p.Pro2702=)
c.8099C= (p.Pro2700=)
c.8003C= (p.Pro2668=)
c.8001C= (p.Ser2667=)
c.7986C= (p.Ser2662=)
c.7940C= (p.Pro2647=)
n.8298C=
n.8283C=
1g.171588396C>GCA343715268PRRC2Cc.8090C>G (p.Pro2697Arg)
c.2260C>G
c.2665C>G
c.8084C>G (p.Pro2695Arg)
n.108C>G
c.3532C>G
n.271C>G
c.8105C>G (p.Pro2702Arg)
c.8099C>G (p.Pro2700Arg)
c.8003C>G (p.Pro2668Arg)
c.8001C>G (p.Ser2667=)
c.7986C>G (p.Ser2662=)
c.7940C>G (p.Pro2647Arg)
n.8298C>G
n.8283C>G
1g.171588396C>TCA1243915PRRC2Cc.8090C>T (p.Pro2697Leu)
c.2260C>T
c.2665C>T
c.8084C>T (p.Pro2695Leu)
n.108C>T
c.3532C>T
n.271C>T
c.8105C>T (p.Pro2702Leu)
c.8099C>T (p.Pro2700Leu)
c.8003C>T (p.Pro2668Leu)
c.8001C>T (p.Ser2667=)
c.7986C>T (p.Ser2662=)
c.7940C>T (p.Pro2647Leu)
n.8298C>T
n.8283C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588397G>ACA1243916PRRC2Cc.8091G>A (p.Pro2697=)
c.2261G>A
c.2666G>A
c.8085G>A (p.Pro2695=)
n.109G>A
c.3533G>A
n.272G>A
c.8106G>A (p.Pro2702=)
c.8100G>A (p.Pro2700=)
c.8004G>A (p.Pro2668=)
c.8002G>A (p.Glu2668Lys)
c.7987G>A (p.Glu2663Lys)
c.7941G>A (p.Pro2647=)
n.8299G>A
n.8284G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588397G>CCA421774322PRRC2Cc.8091G>C (p.Pro2697=)
c.2261G>C
c.2666G>C
c.8085G>C (p.Pro2695=)
n.109G>C
c.3533G>C
n.272G>C
c.8106G>C (p.Pro2702=)
c.8100G>C (p.Pro2700=)
c.8004G>C (p.Pro2668=)
c.8002G>C (p.Glu2668Gln)
c.7987G>C (p.Glu2663Gln)
c.7941G>C (p.Pro2647=)
n.8299G>C
n.8284G>C
1g.171588397G=CA1145335272PRRC2Cc.8091G= (p.Pro2697=)
c.2261G=
c.2666G=
c.8085G= (p.Pro2695=)
n.109G=
c.3533G=
n.272G=
c.8106G= (p.Pro2702=)
c.8100G= (p.Pro2700=)
c.8004G= (p.Pro2668=)
c.8002G= (p.Glu2668=)
c.7987G= (p.Glu2663=)
c.7941G= (p.Pro2647=)
n.8299G=
n.8284G=
1g.171588397G>TCA421774323PRRC2Cc.8091G>T (p.Pro2697=)
c.2261G>T
c.2666G>T
c.8085G>T (p.Pro2695=)
n.109G>T
c.3533G>T
n.272G>T
c.8106G>T (p.Pro2702=)
c.8100G>T (p.Pro2700=)
c.8004G>T (p.Pro2668=)
c.8002G>T (p.Glu2668Ter)
c.7987G>T (p.Glu2663Ter)
c.7941G>T (p.Pro2647=)
n.8299G>T
n.8284G>T
1g.171588398A>CCA343715274PRRC2Cc.8092A>C (p.Asn2698His)
c.2262A>C
c.2667A>C
c.8086A>C (p.Asn2696His)
n.110A>C
c.3534A>C
n.273A>C
c.8107A>C (p.Asn2703His)
c.8101A>C (p.Asn2701His)
c.8005A>C (p.Asn2669His)
c.8003A>C (p.Glu2668Ala)
c.7988A>C (p.Glu2663Ala)
c.7942A>C (p.Asn2648His)
n.8300A>C
n.8285A>C
1g.171588398A>GCA343715273PRRC2Cc.8092A>G (p.Asn2698Asp)
c.2262A>G
c.2667A>G
c.8086A>G (p.Asn2696Asp)
n.110A>G
c.3534A>G
n.273A>G
c.8107A>G (p.Asn2703Asp)
c.8101A>G (p.Asn2701Asp)
c.8005A>G (p.Asn2669Asp)
c.8003A>G (p.Glu2668Gly)
c.7988A>G (p.Glu2663Gly)
c.7942A>G (p.Asn2648Asp)
n.8300A>G
n.8285A>G
1g.171588398A>TCA343715272PRRC2Cc.8092A>T (p.Asn2698Tyr)
c.2262A>T
c.2667A>T
c.8086A>T (p.Asn2696Tyr)
n.110A>T
c.3534A>T
n.273A>T
c.8107A>T (p.Asn2703Tyr)
c.8101A>T (p.Asn2701Tyr)
c.8005A>T (p.Asn2669Tyr)
c.8003A>T (p.Glu2668Val)
c.7988A>T (p.Glu2663Val)
c.7942A>T (p.Asn2648Tyr)
n.8300A>T
n.8285A>T
1g.171588399A=CA1206996688PRRC2Cc.8093A= (p.Asn2698=)
c.2263A=
c.2668A=
c.8087A= (p.Asn2696=)
n.111A=
c.3535A=
n.274A=
c.8108A= (p.Asn2703=)
c.8102A= (p.Asn2701=)
c.8006A= (p.Asn2669=)
c.8004A= (p.Glu2668=)
c.7989A= (p.Glu2663=)
c.7943A= (p.Asn2648=)
n.8301A=
n.8286A=
1g.171588399A>CCA1243917PRRC2Cc.8093A>C (p.Asn2698Thr)
c.2263A>C
c.2668A>C
c.8087A>C (p.Asn2696Thr)
n.111A>C
c.3535A>C
n.274A>C
c.8108A>C (p.Asn2703Thr)
c.8102A>C (p.Asn2701Thr)
c.8006A>C (p.Asn2669Thr)
c.8004A>C (p.Glu2668Asp)
c.7989A>C (p.Glu2663Asp)
c.7943A>C (p.Asn2648Thr)
n.8301A>C
n.8286A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588399A>GCA343715278PRRC2Cc.8093A>G (p.Asn2698Ser)
c.2263A>G
c.2668A>G
c.8087A>G (p.Asn2696Ser)
n.111A>G
c.3535A>G
n.274A>G
c.8108A>G (p.Asn2703Ser)
c.8102A>G (p.Asn2701Ser)
c.8006A>G (p.Asn2669Ser)
c.8004A>G (p.Glu2668=)
c.7989A>G (p.Glu2663=)
c.7943A>G (p.Asn2648Ser)
n.8301A>G
n.8286A>G
 dbSNP
1g.171588399A>TCA343715282PRRC2Cc.8093A>T (p.Asn2698Ile)
c.2263A>T
c.2668A>T
c.8087A>T (p.Asn2696Ile)
n.111A>T
c.3535A>T
n.274A>T
c.8108A>T (p.Asn2703Ile)
c.8102A>T (p.Asn2701Ile)
c.8006A>T (p.Asn2669Ile)
c.8004A>T (p.Glu2668Asp)
c.7989A>T (p.Glu2663Asp)
c.7943A>T (p.Asn2648Ile)
n.8301A>T
n.8286A>T
1g.171588400C>ACA343715286PRRC2Cc.8094C>A (p.Asn2698Lys)
c.2264C>A
c.2669C>A
c.8088C>A (p.Asn2696Lys)
n.112C>A
c.3536C>A
n.275C>A
c.8109C>A (p.Asn2703Lys)
c.8103C>A (p.Asn2701Lys)
c.8007C>A (p.Asn2669Lys)
c.8005C>A (p.Gln2669Lys)
c.7990C>A (p.Gln2664Lys)
c.7944C>A (p.Asn2648Lys)
n.8302C>A
n.8287C>A
 dbSNP
1g.171588400C=CA1206996689PRRC2Cc.8094C= (p.Asn2698=)
c.2264C=
c.2669C=
c.8088C= (p.Asn2696=)
n.112C=
c.3536C=
n.275C=
c.8109C= (p.Asn2703=)
c.8103C= (p.Asn2701=)
c.8007C= (p.Asn2669=)
c.8005C= (p.Gln2669=)
c.7990C= (p.Gln2664=)
c.7944C= (p.Asn2648=)
n.8302C=
n.8287C=
1g.171588400C>GCA343715288PRRC2Cc.8094C>G (p.Asn2698Lys)
c.2264C>G
c.2669C>G
c.8088C>G (p.Asn2696Lys)
n.112C>G
c.3536C>G
n.275C>G
c.8109C>G (p.Asn2703Lys)
c.8103C>G (p.Asn2701Lys)
c.8007C>G (p.Asn2669Lys)
c.8005C>G (p.Gln2669Glu)
c.7990C>G (p.Gln2664Glu)
c.7944C>G (p.Asn2648Lys)
n.8302C>G
n.8287C>G
 dbSNP
1g.171588400C>TCA421774324PRRC2Cc.8094C>T (p.Asn2698=)
c.2264C>T
c.2669C>T
c.8088C>T (p.Asn2696=)
n.112C>T
c.3536C>T
n.275C>T
c.8109C>T (p.Asn2703=)
c.8103C>T (p.Asn2701=)
c.8007C>T (p.Asn2669=)
c.8005C>T (p.Gln2669Ter)
c.7990C>T (p.Gln2664Ter)
c.7944C>T (p.Asn2648=)
n.8302C>T
n.8287C>T
 dbSNP gnomAD v3 gnomAD v4
1g.171588401A>CCA343715293PRRC2Cc.8095A>C (p.Ser2699Arg)
c.2265A>C
c.2670A>C
c.8089A>C (p.Ser2697Arg)
n.113A>C
c.3537A>C
n.276A>C
c.8110A>C (p.Ser2704Arg)
c.8104A>C (p.Ser2702Arg)
c.8008A>C (p.Ser2670Arg)
c.8006A>C (p.Gln2669Pro)
c.7991A>C (p.Gln2664Pro)
c.7945A>C (p.Ser2649Arg)
n.8303A>C
n.8288A>C
1g.171588401A>GCA343715294PRRC2Cc.8095A>G (p.Ser2699Gly)
c.2265A>G
c.2670A>G
c.8089A>G (p.Ser2697Gly)
n.113A>G
c.3537A>G
n.276A>G
c.8110A>G (p.Ser2704Gly)
c.8104A>G (p.Ser2702Gly)
c.8008A>G (p.Ser2670Gly)
c.8006A>G (p.Gln2669Arg)
c.7991A>G (p.Gln2664Arg)
c.7945A>G (p.Ser2649Gly)
n.8303A>G
n.8288A>G
 gnomAD v4
1g.171588401A>TCA343715297PRRC2Cc.8095A>T (p.Ser2699Cys)
c.2265A>T
c.2670A>T
c.8089A>T (p.Ser2697Cys)
n.113A>T
c.3537A>T
n.276A>T
c.8110A>T (p.Ser2704Cys)
c.8104A>T (p.Ser2702Cys)
c.8008A>T (p.Ser2670Cys)
c.8006A>T (p.Gln2669Leu)
c.7991A>T (p.Gln2664Leu)
c.7945A>T (p.Ser2649Cys)
n.8303A>T
n.8288A>T
1g.171588402G>ACA343715301PRRC2Cc.8096G>A (p.Ser2699Asn)
c.2266G>A
c.2671G>A
c.8090G>A (p.Ser2697Asn)
n.114G>A
c.3538G>A
n.277G>A
c.8111G>A (p.Ser2704Asn)
c.8105G>A (p.Ser2702Asn)
c.8009G>A (p.Ser2670Asn)
c.8007G>A (p.Gln2669=)
c.7992G>A (p.Gln2664=)
c.7946G>A (p.Ser2649Asn)
n.8304G>A
n.8289G>A
1g.171588402G>CCA343715303PRRC2Cc.8096G>C (p.Ser2699Thr)
c.2266G>C
c.2671G>C
c.8090G>C (p.Ser2697Thr)
n.114G>C
c.3538G>C
n.277G>C
c.8111G>C (p.Ser2704Thr)
c.8105G>C (p.Ser2702Thr)
c.8009G>C (p.Ser2670Thr)
c.8007G>C (p.Gln2669His)
c.7992G>C (p.Gln2664His)
c.7946G>C (p.Ser2649Thr)
n.8304G>C
n.8289G>C
1g.171588402G>TCA343715306PRRC2Cc.8096G>T (p.Ser2699Ile)
c.2266G>T
c.2671G>T
c.8090G>T (p.Ser2697Ile)
n.114G>T
c.3538G>T
n.277G>T
c.8111G>T (p.Ser2704Ile)
c.8105G>T (p.Ser2702Ile)
c.8009G>T (p.Ser2670Ile)
c.8007G>T (p.Gln2669His)
c.7992G>T (p.Gln2664His)
c.7946G>T (p.Ser2649Ile)
n.8304G>T
n.8289G>T
1g.171588403C>ACA343715309PRRC2Cc.8097C>A (p.Ser2699Arg)
c.2267C>A
c.2672C>A
c.8091C>A (p.Ser2697Arg)
n.115C>A
c.3539C>A
n.278C>A
c.8112C>A (p.Ser2704Arg)
c.8106C>A (p.Ser2702Arg)
c.8010C>A (p.Ser2670Arg)
c.8008C>A (p.Pro2670Thr)
c.7993C>A (p.Pro2665Thr)
c.7947C>A (p.Ser2649Arg)
n.8305C>A
n.8290C>A
1g.171588403C>GCA343715311PRRC2Cc.8097C>G (p.Ser2699Arg)
c.2267C>G
c.2672C>G
c.8091C>G (p.Ser2697Arg)
n.115C>G
c.3539C>G
n.278C>G
c.8112C>G (p.Ser2704Arg)
c.8106C>G (p.Ser2702Arg)
c.8010C>G (p.Ser2670Arg)
c.8008C>G (p.Pro2670Ala)
c.7993C>G (p.Pro2665Ala)
c.7947C>G (p.Ser2649Arg)
n.8305C>G
n.8290C>G
1g.171588403C>TCA421774325PRRC2Cc.8097C>T (p.Ser2699=)
c.2267C>T
c.2672C>T
c.8091C>T (p.Ser2697=)
n.115C>T
c.3539C>T
n.278C>T
c.8112C>T (p.Ser2704=)
c.8106C>T (p.Ser2702=)
c.8010C>T (p.Ser2670=)
c.8008C>T (p.Pro2670Ser)
c.7993C>T (p.Pro2665Ser)
c.7947C>T (p.Ser2649=)
n.8305C>T
n.8290C>T
1g.171588404C>ACA343715320PRRC2Cc.8098C>A (p.Gln2700Lys)
c.2268C>A
c.2673C>A
c.8092C>A (p.Gln2698Lys)
n.116C>A
c.3540C>A
n.279C>A
c.8113C>A (p.Gln2705Lys)
c.8107C>A (p.Gln2703Lys)
c.8011C>A (p.Gln2671Lys)
c.8009C>A (p.Pro2670Gln)
c.7994C>A (p.Pro2665Gln)
c.7948C>A (p.Gln2650Lys)
n.8306C>A
n.8291C>A
1g.171588404C>GCA343715317PRRC2Cc.8098C>G (p.Gln2700Glu)
c.2268C>G
c.2673C>G
c.8092C>G (p.Gln2698Glu)
n.116C>G
c.3540C>G
n.279C>G
c.8113C>G (p.Gln2705Glu)
c.8107C>G (p.Gln2703Glu)
c.8011C>G (p.Gln2671Glu)
c.8009C>G (p.Pro2670Arg)
c.7994C>G (p.Pro2665Arg)
c.7948C>G (p.Gln2650Glu)
n.8306C>G
n.8291C>G
1g.171588404C>TCA343715314PRRC2Cc.8098C>T (p.Gln2700Ter)
c.2268C>T
c.2673C>T
c.8092C>T (p.Gln2698Ter)
n.116C>T
c.3540C>T
n.279C>T
c.8113C>T (p.Gln2705Ter)
c.8107C>T (p.Gln2703Ter)
c.8011C>T (p.Gln2671Ter)
c.8009C>T (p.Pro2670Leu)
c.7994C>T (p.Pro2665Leu)
c.7948C>T (p.Gln2650Ter)
n.8306C>T
n.8291C>T
1g.171588405A=CA1206996690PRRC2Cc.8099A= (p.Gln2700=)
c.2269A=
c.2674A=
c.8093A= (p.Gln2698=)
n.117A=
c.3541A=
n.280A=
c.8114A= (p.Gln2705=)
c.8108A= (p.Gln2703=)
c.8012A= (p.Gln2671=)
c.8010A= (p.Pro2670=)
c.7995A= (p.Pro2665=)
c.7949A= (p.Gln2650=)
n.8307A=
n.8292A=
1g.171588405A>CCA343715323PRRC2Cc.8099A>C (p.Gln2700Pro)
c.2269A>C
c.2674A>C
c.8093A>C (p.Gln2698Pro)
n.117A>C
c.3541A>C
n.280A>C
c.8114A>C (p.Gln2705Pro)
c.8108A>C (p.Gln2703Pro)
c.8012A>C (p.Gln2671Pro)
c.8010A>C (p.Pro2670=)
c.7995A>C (p.Pro2665=)
c.7949A>C (p.Gln2650Pro)
n.8307A>C
n.8292A>C
1g.171588405A>GCA1243918PRRC2Cc.8099A>G (p.Gln2700Arg)
c.2269A>G
c.2674A>G
c.8093A>G (p.Gln2698Arg)
n.117A>G
c.3541A>G
n.280A>G
c.8114A>G (p.Gln2705Arg)
c.8108A>G (p.Gln2703Arg)
c.8012A>G (p.Gln2671Arg)
c.8010A>G (p.Pro2670=)
c.7995A>G (p.Pro2665=)
c.7949A>G (p.Gln2650Arg)
n.8307A>G
n.8292A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588405A>TCA343715327PRRC2Cc.8099A>T (p.Gln2700Leu)
c.2269A>T
c.2674A>T
c.8093A>T (p.Gln2698Leu)
n.117A>T
c.3541A>T
n.280A>T
c.8114A>T (p.Gln2705Leu)
c.8108A>T (p.Gln2703Leu)
c.8012A>T (p.Gln2671Leu)
c.8010A>T (p.Pro2670=)
c.7995A>T (p.Pro2665=)
c.7949A>T (p.Gln2650Leu)
n.8307A>T
n.8292A>T
1g.171588406G>ACA421774326PRRC2Cc.8100G>A (p.Gln2700=)
c.2270G>A
c.2675G>A
c.8094G>A (p.Gln2698=)
n.118G>A
c.3542G>A
n.281G>A
c.8115G>A (p.Gln2705=)
c.8109G>A (p.Gln2703=)
c.8013G>A (p.Gln2671=)
c.8011G>A (p.Val2671Ile)
c.7996G>A (p.Val2666Ile)
c.7950G>A (p.Gln2650=)
n.8308G>A
n.8293G>A
1g.171588406G>CCA343715331PRRC2Cc.8100G>C (p.Gln2700His)
c.2270G>C
c.2675G>C
c.8094G>C (p.Gln2698His)
n.118G>C
c.3542G>C
n.281G>C
c.8115G>C (p.Gln2705His)
c.8109G>C (p.Gln2703His)
c.8013G>C (p.Gln2671His)
c.8011G>C (p.Val2671Leu)
c.7996G>C (p.Val2666Leu)
c.7950G>C (p.Gln2650His)
n.8308G>C
n.8293G>C
 gnomAD v4
1g.171588406G>TCA343715334PRRC2Cc.8100G>T (p.Gln2700His)
c.2270G>T
c.2675G>T
c.8094G>T (p.Gln2698His)
n.118G>T
c.3542G>T
n.281G>T
c.8115G>T (p.Gln2705His)
c.8109G>T (p.Gln2703His)
c.8013G>T (p.Gln2671His)
c.8011G>T (p.Val2671Phe)
c.7996G>T (p.Val2666Phe)
c.7950G>T (p.Gln2650His)
n.8308G>T
n.8293G>T
1g.171588407T>ACA343715339PRRC2Cc.8101T>A (p.Ser2701Thr)
c.2271T>A
c.2676T>A
c.8095T>A (p.Ser2699Thr)
n.119T>A
c.3543T>A
n.282T>A
c.8116T>A (p.Ser2706Thr)
c.8110T>A (p.Ser2704Thr)
c.8014T>A (p.Ser2672Thr)
c.8012T>A (p.Val2671Asp)
c.7997T>A (p.Val2666Asp)
c.7951T>A (p.Ser2651Thr)
n.8309T>A
n.8294T>A
1g.171588407T>CCA343715338PRRC2Cc.8101T>C (p.Ser2701Pro)
c.2271T>C
c.2676T>C
c.8095T>C (p.Ser2699Pro)
n.119T>C
c.3543T>C
n.282T>C
c.8116T>C (p.Ser2706Pro)
c.8110T>C (p.Ser2704Pro)
c.8014T>C (p.Ser2672Pro)
c.8012T>C (p.Val2671Ala)
c.7997T>C (p.Val2666Ala)
c.7951T>C (p.Ser2651Pro)
n.8309T>C
n.8294T>C
1g.171588407T>GCA343715336PRRC2Cc.8101T>G (p.Ser2701Ala)
c.2271T>G
c.2676T>G
c.8095T>G (p.Ser2699Ala)
n.119T>G
c.3543T>G
n.282T>G
c.8116T>G (p.Ser2706Ala)
c.8110T>G (p.Ser2704Ala)
c.8014T>G (p.Ser2672Ala)
c.8012T>G (p.Val2671Gly)
c.7997T>G (p.Val2666Gly)
c.7951T>G (p.Ser2651Ala)
n.8309T>G
n.8294T>G
1g.171588408C>ACA343715343PRRC2Cc.8102C>A (p.Ser2701Tyr)
c.2272C>A
c.2677C>A
c.8096C>A (p.Ser2699Tyr)
n.120C>A
c.3544C>A
n.283C>A
c.8117C>A (p.Ser2706Tyr)
c.8111C>A (p.Ser2704Tyr)
c.8015C>A (p.Ser2672Tyr)
c.8013C>A (p.Val2671=)
c.7998C>A (p.Val2666=)
c.7952C>A (p.Ser2651Tyr)
n.8310C>A
n.8295C>A
1g.171588408C>GCA343715346PRRC2Cc.8102C>G (p.Ser2701Cys)
c.2272C>G
c.2677C>G
c.8096C>G (p.Ser2699Cys)
n.120C>G
c.3544C>G
n.283C>G
c.8117C>G (p.Ser2706Cys)
c.8111C>G (p.Ser2704Cys)
c.8015C>G (p.Ser2672Cys)
c.8013C>G (p.Val2671=)
c.7998C>G (p.Val2666=)
c.7952C>G (p.Ser2651Cys)
n.8310C>G
n.8295C>G
1g.171588408C>TCA343715348PRRC2Cc.8102C>T (p.Ser2701Phe)
c.2272C>T
c.2677C>T
c.8096C>T (p.Ser2699Phe)
n.120C>T
c.3544C>T
n.283C>T
c.8117C>T (p.Ser2706Phe)
c.8111C>T (p.Ser2704Phe)
c.8015C>T (p.Ser2672Phe)
c.8013C>T (p.Val2671=)
c.7998C>T (p.Val2666=)
c.7952C>T (p.Ser2651Phe)
n.8310C>T
n.8295C>T
1g.171588409C>ACA421774327PRRC2Cc.8103C>A (p.Ser2701=)
c.2273C>A
c.2678C>A
c.8097C>A (p.Ser2699=)
n.121C>A
c.3545C>A
n.284C>A
c.8118C>A (p.Ser2706=)
c.8112C>A (p.Ser2704=)
c.8016C>A (p.Ser2672=)
c.8014C>A (p.Gln2672Lys)
c.7999C>A (p.Gln2667Lys)
c.7953C>A (p.Ser2651=)
n.8311C>A
n.8296C>A
1g.171588409C>GCA421774329PRRC2Cc.8103C>G (p.Ser2701=)
c.2273C>G
c.2678C>G
c.8097C>G (p.Ser2699=)
n.121C>G
c.3545C>G
n.284C>G
c.8118C>G (p.Ser2706=)
c.8112C>G (p.Ser2704=)
c.8016C>G (p.Ser2672=)
c.8014C>G (p.Gln2672Glu)
c.7999C>G (p.Gln2667Glu)
c.7953C>G (p.Ser2651=)
n.8311C>G
n.8296C>G
1g.171588409C>TCA421774328PRRC2Cc.8103C>T (p.Ser2701=)
c.2273C>T
c.2678C>T
c.8097C>T (p.Ser2699=)
n.121C>T
c.3545C>T
n.284C>T
c.8118C>T (p.Ser2706=)
c.8112C>T (p.Ser2704=)
c.8016C>T (p.Ser2672=)
c.8014C>T (p.Gln2672Ter)
c.7999C>T (p.Gln2667Ter)
c.7953C>T (p.Ser2651=)
n.8311C>T
n.8296C>T
1g.171588409_171588410insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTGCA2649101742PRRC2Cc.8103_8104insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2702LeufsTer6)
c.2273_2274insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
c.2678_2679insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
c.8097_8098insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2700LeufsTer6)
n.121_122insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
c.3545_3546insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
n.284_285insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
c.8118_8119insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2707LeufsTer6)
c.8112_8113insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2705LeufsTer6)
c.8016_8017insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2673LeufsTer6)
c.8014_8015insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Gln2672ProfsTer2)
c.7999_8000insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Gln2667ProfsTer2)
c.7953_7954insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG (p.Ser2652LeufsTer6)
n.8311_8312insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
n.8296_8297insCTTAGCTTGTGGAATTAAAGAAATGTTAAGTTTATTTTATGCTTCTCCTCAGATGTCTG
 gnomAD v4
1g.171588410A>CCA343715351PRRC2Cc.8104A>C (p.Ser2702Arg)
c.2274A>C
c.2679A>C
c.8098A>C (p.Ser2700Arg)
n.122A>C
c.3546A>C
n.285A>C
c.8119A>C (p.Ser2707Arg)
c.8113A>C (p.Ser2705Arg)
c.8017A>C (p.Ser2673Arg)
c.8015A>C (p.Gln2672Pro)
c.8000A>C (p.Gln2667Pro)
c.7954A>C (p.Ser2652Arg)
n.8312A>C
n.8297A>C
1g.171588410A>GCA343715354PRRC2Cc.8104A>G (p.Ser2702Gly)
c.2274A>G
c.2679A>G
c.8098A>G (p.Ser2700Gly)
n.122A>G
c.3546A>G
n.285A>G
c.8119A>G (p.Ser2707Gly)
c.8113A>G (p.Ser2705Gly)
c.8017A>G (p.Ser2673Gly)
c.8015A>G (p.Gln2672Arg)
c.8000A>G (p.Gln2667Arg)
c.7954A>G (p.Ser2652Gly)
n.8312A>G
n.8297A>G
1g.171588410A>TCA343715357PRRC2Cc.8104A>T (p.Ser2702Cys)
c.2274A>T
c.2679A>T
c.8098A>T (p.Ser2700Cys)
n.122A>T
c.3546A>T
n.285A>T
c.8119A>T (p.Ser2707Cys)
c.8113A>T (p.Ser2705Cys)
c.8017A>T (p.Ser2673Cys)
c.8015A>T (p.Gln2672Leu)
c.8000A>T (p.Gln2667Leu)
c.7954A>T (p.Ser2652Cys)
n.8312A>T
n.8297A>T
1g.171588411G>ACA343715366PRRC2Cc.8105G>A (p.Ser2702Asn)
c.2275G>A
c.2680G>A
c.8099G>A (p.Ser2700Asn)
n.123G>A
c.3547G>A
n.286G>A
c.8120G>A (p.Ser2707Asn)
c.8114G>A (p.Ser2705Asn)
c.8018G>A (p.Ser2673Asn)
c.8016G>A (p.Gln2672=)
c.8001G>A (p.Gln2667=)
c.7955G>A (p.Ser2652Asn)
n.8313G>A
n.8298G>A
 gnomAD v4
1g.171588411G>CCA343715361PRRC2Cc.8105G>C (p.Ser2702Thr)
c.2275G>C
c.2680G>C
c.8099G>C (p.Ser2700Thr)
n.123G>C
c.3547G>C
n.286G>C
c.8120G>C (p.Ser2707Thr)
c.8114G>C (p.Ser2705Thr)
c.8018G>C (p.Ser2673Thr)
c.8016G>C (p.Gln2672His)
c.8001G>C (p.Gln2667His)
c.7955G>C (p.Ser2652Thr)
n.8313G>C
n.8298G>C
1g.171588411G>TCA343715364PRRC2Cc.8105G>T (p.Ser2702Ile)
c.2275G>T
c.2680G>T
c.8099G>T (p.Ser2700Ile)
n.123G>T
c.3547G>T
n.286G>T
c.8120G>T (p.Ser2707Ile)
c.8114G>T (p.Ser2705Ile)
c.8018G>T (p.Ser2673Ile)
c.8016G>T (p.Gln2672His)
c.8001G>T (p.Gln2667His)
c.7955G>T (p.Ser2652Ile)
n.8313G>T
n.8298G>T
1g.171588412C>ACA343715370PRRC2Cc.8106C>A (p.Ser2702Arg)
c.2276C>A
c.2681C>A
c.8100C>A (p.Ser2700Arg)
n.124C>A
c.3548C>A
n.287C>A
c.8121C>A (p.Ser2707Arg)
c.8115C>A (p.Ser2705Arg)
c.8019C>A (p.Ser2673Arg)
c.8017C>A (p.Gln2673Lys)
c.8002C>A (p.Gln2668Lys)
c.7956C>A (p.Ser2652Arg)
n.8314C>A
n.8299C>A
1g.171588412C>GCA343715372PRRC2Cc.8106C>G (p.Ser2702Arg)
c.2276C>G
c.2681C>G
c.8100C>G (p.Ser2700Arg)
n.124C>G
c.3548C>G
n.287C>G
c.8121C>G (p.Ser2707Arg)
c.8115C>G (p.Ser2705Arg)
c.8019C>G (p.Ser2673Arg)
c.8017C>G (p.Gln2673Glu)
c.8002C>G (p.Gln2668Glu)
c.7956C>G (p.Ser2652Arg)
n.8314C>G
n.8299C>G
1g.171588412C>TCA421774330PRRC2Cc.8106C>T (p.Ser2702=)
c.2276C>T
c.2681C>T
c.8100C>T (p.Ser2700=)
n.124C>T
c.3548C>T
n.287C>T
c.8121C>T (p.Ser2707=)
c.8115C>T (p.Ser2705=)
c.8019C>T (p.Ser2673=)
c.8017C>T (p.Gln2673Ter)
c.8002C>T (p.Gln2668Ter)
c.7956C>T (p.Ser2652=)
n.8314C>T
n.8299C>T
1g.171588413A>CCA343715376PRRC2Cc.8107A>C (p.Lys2703Gln)
c.2277A>C
c.2682A>C
c.8101A>C (p.Lys2701Gln)
n.125A>C
c.3549A>C
n.288A>C
c.8122A>C (p.Lys2708Gln)
c.8116A>C (p.Lys2706Gln)
c.8020A>C (p.Lys2674Gln)
c.8018A>C (p.Gln2673Pro)
c.8003A>C (p.Gln2668Pro)
c.7957A>C (p.Lys2653Gln)
n.8315A>C
n.8300A>C
1g.171588413A>GCA343715377PRRC2Cc.8107A>G (p.Lys2703Glu)
c.2277A>G
c.2682A>G
c.8101A>G (p.Lys2701Glu)
n.125A>G
c.3549A>G
n.288A>G
c.8122A>G (p.Lys2708Glu)
c.8116A>G (p.Lys2706Glu)
c.8020A>G (p.Lys2674Glu)
c.8018A>G (p.Gln2673Arg)
c.8003A>G (p.Gln2668Arg)
c.7957A>G (p.Lys2653Glu)
n.8315A>G
n.8300A>G
1g.171588413A>TCA343715380PRRC2Cc.8107A>T (p.Lys2703Ter)
c.2277A>T
c.2682A>T
c.8101A>T (p.Lys2701Ter)
n.125A>T
c.3549A>T
n.288A>T
c.8122A>T (p.Lys2708Ter)
c.8116A>T (p.Lys2706Ter)
c.8020A>T (p.Lys2674Ter)
c.8018A>T (p.Gln2673Leu)
c.8003A>T (p.Gln2668Leu)
c.7957A>T (p.Lys2653Ter)
n.8315A>T
n.8300A>T
1g.171588414A=CA1206996691PRRC2Cc.8108A= (p.Lys2703=)
c.2278A=
c.2683A=
c.8102A= (p.Lys2701=)
n.126A=
c.3550A=
n.289A=
c.8123A= (p.Lys2708=)
c.8117A= (p.Lys2706=)
c.8021A= (p.Lys2674=)
c.8019A= (p.Gln2673=)
c.8004A= (p.Gln2668=)
c.7958A= (p.Lys2653=)
n.8316A=
n.8301A=
1g.171588414A>CCA343715384PRRC2Cc.8108A>C (p.Lys2703Thr)
c.2278A>C
c.2683A>C
c.8102A>C (p.Lys2701Thr)
n.126A>C
c.3550A>C
n.289A>C
c.8123A>C (p.Lys2708Thr)
c.8117A>C (p.Lys2706Thr)
c.8021A>C (p.Lys2674Thr)
c.8019A>C (p.Gln2673His)
c.8004A>C (p.Gln2668His)
c.7958A>C (p.Lys2653Thr)
n.8316A>C
n.8301A>C
1g.171588414A>GCA343715386PRRC2Cc.8108A>G (p.Lys2703Arg)
c.2278A>G
c.2683A>G
c.8102A>G (p.Lys2701Arg)
n.126A>G
c.3550A>G
n.289A>G
c.8123A>G (p.Lys2708Arg)
c.8117A>G (p.Lys2706Arg)
c.8021A>G (p.Lys2674Arg)
c.8019A>G (p.Gln2673=)
c.8004A>G (p.Gln2668=)
c.7958A>G (p.Lys2653Arg)
n.8316A>G
n.8301A>G
 dbSNP gnomAD v2 gnomAD v4
1g.171588414A>TCA343715389PRRC2Cc.8108A>T (p.Lys2703Ile)
c.2278A>T
c.2683A>T
c.8102A>T (p.Lys2701Ile)
n.126A>T
c.3550A>T
n.289A>T
c.8123A>T (p.Lys2708Ile)
c.8117A>T (p.Lys2706Ile)
c.8021A>T (p.Lys2674Ile)
c.8019A>T (p.Gln2673His)
c.8004A>T (p.Gln2668His)
c.7958A>T (p.Lys2653Ile)
n.8316A>T
n.8301A>T
1g.171588415A=CA1206996692PRRC2Cc.8109A= (p.Lys2703=)
c.2279A=
c.2684A=
c.8103A= (p.Lys2701=)
n.127A=
c.3551A=
n.290A=
c.8124A= (p.Lys2708=)
c.8118A= (p.Lys2706=)
c.8022A= (p.Lys2674=)
c.8020A= (p.Asn2674=)
c.8005A= (p.Asn2669=)
c.7959A= (p.Lys2653=)
n.8317A=
n.8302A=
1g.171588415A>CCA343715393PRRC2Cc.8109A>C (p.Lys2703Asn)
c.2279A>C
c.2684A>C
c.8103A>C (p.Lys2701Asn)
n.127A>C
c.3551A>C
n.290A>C
c.8124A>C (p.Lys2708Asn)
c.8118A>C (p.Lys2706Asn)
c.8022A>C (p.Lys2674Asn)
c.8020A>C (p.Asn2674His)
c.8005A>C (p.Asn2669His)
c.7959A>C (p.Lys2653Asn)
n.8317A>C
n.8302A>C
1g.171588415A>GCA421774331PRRC2Cc.8109A>G (p.Lys2703=)
c.2279A>G
c.2684A>G
c.8103A>G (p.Lys2701=)
n.127A>G
c.3551A>G
n.290A>G
c.8124A>G (p.Lys2708=)
c.8118A>G (p.Lys2706=)
c.8022A>G (p.Lys2674=)
c.8020A>G (p.Asn2674Asp)
c.8005A>G (p.Asn2669Asp)
c.7959A>G (p.Lys2653=)
n.8317A>G
n.8302A>G
1g.171588415A>TCA343715395PRRC2Cc.8109A>T (p.Lys2703Asn)
c.2279A>T
c.2684A>T
c.8103A>T (p.Lys2701Asn)
n.127A>T
c.3551A>T
n.290A>T
c.8124A>T (p.Lys2708Asn)
c.8118A>T (p.Lys2706Asn)
c.8022A>T (p.Lys2674Asn)
c.8020A>T (p.Asn2674Tyr)
c.8005A>T (p.Asn2669Tyr)
c.7959A>T (p.Lys2653Asn)
n.8317A>T
n.8302A>T
 dbSNP
1g.171588416A=CA1206996693PRRC2Cc.8110A= (p.Met2704=)
c.2280A=
c.2685A=
c.8104A= (p.Met2702=)
n.128A=
c.3552A=
n.291A=
c.8125A= (p.Met2709=)
c.8119A= (p.Met2707=)
c.8023A= (p.Met2675=)
c.8021A= (p.Asn2674=)
c.8006A= (p.Asn2669=)
c.7960A= (p.Met2654=)
n.8318A=
n.8303A=
1g.171588416A>CCA343715398PRRC2Cc.8110A>C (p.Met2704Leu)
c.2280A>C
c.2685A>C
c.8104A>C (p.Met2702Leu)
n.128A>C
c.3552A>C
n.291A>C
c.8125A>C (p.Met2709Leu)
c.8119A>C (p.Met2707Leu)
c.8023A>C (p.Met2675Leu)
c.8021A>C (p.Asn2674Thr)
c.8006A>C (p.Asn2669Thr)
c.7960A>C (p.Met2654Leu)
n.8318A>C
n.8303A>C
1g.171588416A>GCA343715400PRRC2Cc.8110A>G (p.Met2704Val)
c.2280A>G
c.2685A>G
c.8104A>G (p.Met2702Val)
n.128A>G
c.3552A>G
n.291A>G
c.8125A>G (p.Met2709Val)
c.8119A>G (p.Met2707Val)
c.8023A>G (p.Met2675Val)
c.8021A>G (p.Asn2674Ser)
c.8006A>G (p.Asn2669Ser)
c.7960A>G (p.Met2654Val)
n.8318A>G
n.8303A>G
 dbSNP gnomAD v2 gnomAD v4
1g.171588416A>TCA343715403PRRC2Cc.8110A>T (p.Met2704Leu)
c.2280A>T
c.2685A>T
c.8104A>T (p.Met2702Leu)
n.128A>T
c.3552A>T
n.291A>T
c.8125A>T (p.Met2709Leu)
c.8119A>T (p.Met2707Leu)
c.8023A>T (p.Met2675Leu)
c.8021A>T (p.Asn2674Ile)
c.8006A>T (p.Asn2669Ile)
c.7960A>T (p.Met2654Leu)
n.8318A>T
n.8303A>T
1g.171588417T>ACA343715411PRRC2Cc.8111T>A (p.Met2704Lys)
c.2281T>A
c.2686T>A
c.8105T>A (p.Met2702Lys)
n.129T>A
c.3553T>A
n.292T>A
c.8126T>A (p.Met2709Lys)
c.8120T>A (p.Met2707Lys)
c.8024T>A (p.Met2675Lys)
c.8022T>A (p.Asn2674Lys)
c.8007T>A (p.Asn2669Lys)
c.7961T>A (p.Met2654Lys)
n.8319T>A
n.8304T>A
1g.171588417T>CCA32653205PRRC2Cc.8111T>C (p.Met2704Thr)
c.2281T>C
c.2686T>C
c.8105T>C (p.Met2702Thr)
n.129T>C
c.3553T>C
n.292T>C
c.8126T>C (p.Met2709Thr)
c.8120T>C (p.Met2707Thr)
c.8024T>C (p.Met2675Thr)
c.8022T>C (p.Asn2674=)
c.8007T>C (p.Asn2669=)
c.7961T>C (p.Met2654Thr)
n.8319T>C
n.8304T>C
 dbSNP gnomAD v2 gnomAD v4
1g.171588417T>GCA343715408PRRC2Cc.8111T>G (p.Met2704Arg)
c.2281T>G
c.2686T>G
c.8105T>G (p.Met2702Arg)
n.129T>G
c.3553T>G
n.292T>G
c.8126T>G (p.Met2709Arg)
c.8120T>G (p.Met2707Arg)
c.8024T>G (p.Met2675Arg)
c.8022T>G (p.Asn2674Lys)
c.8007T>G (p.Asn2669Lys)
c.7961T>G (p.Met2654Arg)
n.8319T>G
n.8304T>G
 gnomAD v4
1g.171588417T=CA1206996694PRRC2Cc.8111T= (p.Met2704=)
c.2281T=
c.2686T=
c.8105T= (p.Met2702=)
n.129T=
c.3553T=
n.292T=
c.8126T= (p.Met2709=)
c.8120T= (p.Met2707=)
c.8024T= (p.Met2675=)
c.8022T= (p.Asn2674=)
c.8007T= (p.Asn2669=)
c.7961T= (p.Met2654=)
n.8319T=
n.8304T=
1g.171588418G>ACA343715415PRRC2Cc.8112G>A (p.Met2704Ile)
c.2282G>A
c.2687G>A
c.8106G>A (p.Met2702Ile)
n.130G>A
c.3554G>A
n.293G>A
c.8127G>A (p.Met2709Ile)
c.8121G>A (p.Met2707Ile)
c.8025G>A (p.Met2675Ile)
c.8023G>A (p.Glu2675Lys)
c.8008G>A (p.Glu2670Lys)
c.7962G>A (p.Met2654Ile)
n.8320G>A
n.8305G>A
1g.171588418G>CCA343715417PRRC2Cc.8112G>C (p.Met2704Ile)
c.2282G>C
c.2687G>C
c.8106G>C (p.Met2702Ile)
n.130G>C
c.3554G>C
n.293G>C
c.8127G>C (p.Met2709Ile)
c.8121G>C (p.Met2707Ile)
c.8025G>C (p.Met2675Ile)
c.8023G>C (p.Glu2675Gln)
c.8008G>C (p.Glu2670Gln)
c.7962G>C (p.Met2654Ile)
n.8320G>C
n.8305G>C
1g.171588418G>TCA343715418PRRC2Cc.8112G>T (p.Met2704Ile)
c.2282G>T
c.2687G>T
c.8106G>T (p.Met2702Ile)
n.130G>T
c.3554G>T
n.293G>T
c.8127G>T (p.Met2709Ile)
c.8121G>T (p.Met2707Ile)
c.8025G>T (p.Met2675Ile)
c.8023G>T (p.Glu2675Ter)
c.8008G>T (p.Glu2670Ter)
c.7962G>T (p.Met2654Ile)
n.8320G>T
n.8305G>T
1g.171588419A>CCA343715422PRRC2Cc.8113A>C (p.Asn2705His)
c.2283A>C
c.2688A>C
c.8107A>C (p.Asn2703His)
n.131A>C
c.3555A>C
n.294A>C
c.8128A>C (p.Asn2710His)
c.8122A>C (p.Asn2708His)
c.8026A>C (p.Asn2676His)
c.8024A>C (p.Glu2675Ala)
c.8009A>C (p.Glu2670Ala)
c.7963A>C (p.Asn2655His)
n.8321A>C
n.8306A>C
1g.171588419A>GCA343715425PRRC2Cc.8113A>G (p.Asn2705Asp)
c.2283A>G
c.2688A>G
c.8107A>G (p.Asn2703Asp)
n.131A>G
c.3555A>G
n.294A>G
c.8128A>G (p.Asn2710Asp)
c.8122A>G (p.Asn2708Asp)
c.8026A>G (p.Asn2676Asp)
c.8024A>G (p.Glu2675Gly)
c.8009A>G (p.Glu2670Gly)
c.7963A>G (p.Asn2655Asp)
n.8321A>G
n.8306A>G
1g.171588419A>TCA343715427PRRC2Cc.8113A>T (p.Asn2705Tyr)
c.2283A>T
c.2688A>T
c.8107A>T (p.Asn2703Tyr)
n.131A>T
c.3555A>T
n.294A>T
c.8128A>T (p.Asn2710Tyr)
c.8122A>T (p.Asn2708Tyr)
c.8026A>T (p.Asn2676Tyr)
c.8024A>T (p.Glu2675Val)
c.8009A>T (p.Glu2670Val)
c.7963A>T (p.Asn2655Tyr)
n.8321A>T
n.8306A>T
1g.171588420A=CA1206996695PRRC2Cc.8114A= (p.Asn2705=)
c.2284A=
c.2689A=
c.8108A= (p.Asn2703=)
n.132A=
c.3556A=
n.295A=
c.8129A= (p.Asn2710=)
c.8123A= (p.Asn2708=)
c.8027A= (p.Asn2676=)
c.8025A= (p.Glu2675=)
c.8010A= (p.Glu2670=)
c.7964A= (p.Asn2655=)
n.8322A=
n.8307A=
1g.171588420A>CCA343715436PRRC2Cc.8114A>C (p.Asn2705Thr)
c.2284A>C
c.2689A>C
c.8108A>C (p.Asn2703Thr)
n.132A>C
c.3556A>C
n.295A>C
c.8129A>C (p.Asn2710Thr)
c.8123A>C (p.Asn2708Thr)
c.8027A>C (p.Asn2676Thr)
c.8025A>C (p.Glu2675Asp)
c.8010A>C (p.Glu2670Asp)
c.7964A>C (p.Asn2655Thr)
n.8322A>C
n.8307A>C
1g.171588420A>GCA32653216PRRC2Cc.8114A>G (p.Asn2705Ser)
c.2284A>G
c.2689A>G
c.8108A>G (p.Asn2703Ser)
n.132A>G
c.3556A>G
n.295A>G
c.8129A>G (p.Asn2710Ser)
c.8123A>G (p.Asn2708Ser)
c.8027A>G (p.Asn2676Ser)
c.8025A>G (p.Glu2675=)
c.8010A>G (p.Glu2670=)
c.7964A>G (p.Asn2655Ser)
n.8322A>G
n.8307A>G
 dbSNP
1g.171588420A>TCA343715433PRRC2Cc.8114A>T (p.Asn2705Ile)
c.2284A>T
c.2689A>T
c.8108A>T (p.Asn2703Ile)
n.132A>T
c.3556A>T
n.295A>T
c.8129A>T (p.Asn2710Ile)
c.8123A>T (p.Asn2708Ile)
c.8027A>T (p.Asn2676Ile)
c.8025A>T (p.Glu2675Asp)
c.8010A>T (p.Glu2670Asp)
c.7964A>T (p.Asn2655Ile)
n.8322A>T
n.8307A>T
1g.171588421C>ACA343715439PRRC2Cc.8115C>A (p.Asn2705Lys)
c.2285C>A
c.2690C>A
c.8109C>A (p.Asn2703Lys)
n.133C>A
c.3557C>A
n.296C>A
c.8130C>A (p.Asn2710Lys)
c.8124C>A (p.Asn2708Lys)
c.8028C>A (p.Asn2676Lys)
c.8026C>A (p.Gln2676Lys)
c.8011C>A (p.Gln2671Lys)
c.7965C>A (p.Asn2655Lys)
n.8323C>A
n.8308C>A
1g.171588421C>GCA343715441PRRC2Cc.8115C>G (p.Asn2705Lys)
c.2285C>G
c.2690C>G
c.8109C>G (p.Asn2703Lys)
n.133C>G
c.3557C>G
n.296C>G
c.8130C>G (p.Asn2710Lys)
c.8124C>G (p.Asn2708Lys)
c.8028C>G (p.Asn2676Lys)
c.8026C>G (p.Gln2676Glu)
c.8011C>G (p.Gln2671Glu)
c.7965C>G (p.Asn2655Lys)
n.8323C>G
n.8308C>G
1g.171588421C>TCA421774332PRRC2Cc.8115C>T (p.Asn2705=)
c.2285C>T
c.2690C>T
c.8109C>T (p.Asn2703=)
n.133C>T
c.3557C>T
n.296C>T
c.8130C>T (p.Asn2710=)
c.8124C>T (p.Asn2708=)
c.8028C>T (p.Asn2676=)
c.8026C>T (p.Gln2676Ter)
c.8011C>T (p.Gln2671Ter)
c.7965C>T (p.Asn2655=)
n.8323C>T
n.8308C>T
 gnomAD v4
1g.171588422A=CA1144204206PRRC2Cc.8116A= (p.Ser2706=)
c.2286A=
c.2691A=
c.8110A= (p.Ser2704=)
n.134A=
c.3558A=
n.297A=
c.8131A= (p.Ser2711=)
c.8125A= (p.Ser2709=)
c.8029A= (p.Ser2677=)
c.8027A= (p.Gln2676=)
c.8012A= (p.Gln2671=)
c.7966A= (p.Ser2656=)
n.8324A=
n.8309A=
1g.171588422A>CCA343715445PRRC2Cc.8116A>C (p.Ser2706Arg)
c.2286A>C
c.2691A>C
c.8110A>C (p.Ser2704Arg)
n.134A>C
c.3558A>C
n.297A>C
c.8131A>C (p.Ser2711Arg)
c.8125A>C (p.Ser2709Arg)
c.8029A>C (p.Ser2677Arg)
c.8027A>C (p.Gln2676Pro)
c.8012A>C (p.Gln2671Pro)
c.7966A>C (p.Ser2656Arg)
n.8324A>C
n.8309A>C
1g.171588422A>GCA1243920PRRC2Cc.8116A>G (p.Ser2706Gly)
c.2286A>G
c.2691A>G
c.8110A>G (p.Ser2704Gly)
n.134A>G
c.3558A>G
n.297A>G
c.8131A>G (p.Ser2711Gly)
c.8125A>G (p.Ser2709Gly)
c.8029A>G (p.Ser2677Gly)
c.8027A>G (p.Gln2676Arg)
c.8012A>G (p.Gln2671Arg)
c.7966A>G (p.Ser2656Gly)
n.8324A>G
n.8309A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588422A>TCA1243919PRRC2Cc.8116A>T (p.Ser2706Cys)
c.2286A>T
c.2691A>T
c.8110A>T (p.Ser2704Cys)
n.134A>T
c.3558A>T
n.297A>T
c.8131A>T (p.Ser2711Cys)
c.8125A>T (p.Ser2709Cys)
c.8029A>T (p.Ser2677Cys)
c.8027A>T (p.Gln2676Leu)
c.8012A>T (p.Gln2671Leu)
c.7966A>T (p.Ser2656Cys)
n.8324A>T
n.8309A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588423G>ACA1243921PRRC2Cc.8117G>A (p.Ser2706Asn)
c.2287G>A
c.2692G>A
c.8111G>A (p.Ser2704Asn)
n.135G>A
c.3559G>A
n.298G>A
c.8132G>A (p.Ser2711Asn)
c.8126G>A (p.Ser2709Asn)
c.8030G>A (p.Ser2677Asn)
c.8028G>A (p.Gln2676=)
c.8013G>A (p.Gln2671=)
c.7967G>A (p.Ser2656Asn)
n.8325G>A
n.8310G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588423G>CCA343715452PRRC2Cc.8117G>C (p.Ser2706Thr)
c.2287G>C
c.2692G>C
c.8111G>C (p.Ser2704Thr)
n.135G>C
c.3559G>C
n.298G>C
c.8132G>C (p.Ser2711Thr)
c.8126G>C (p.Ser2709Thr)
c.8030G>C (p.Ser2677Thr)
c.8028G>C (p.Gln2676His)
c.8013G>C (p.Gln2671His)
c.7967G>C (p.Ser2656Thr)
n.8325G>C
n.8310G>C
1g.171588423G=CA1206996696PRRC2Cc.8117G= (p.Ser2706=)
c.2287G=
c.2692G=
c.8111G= (p.Ser2704=)
n.135G=
c.3559G=
n.298G=
c.8132G= (p.Ser2711=)
c.8126G= (p.Ser2709=)
c.8030G= (p.Ser2677=)
c.8028G= (p.Gln2676=)
c.8013G= (p.Gln2671=)
c.7967G= (p.Ser2656=)
n.8325G=
n.8310G=
1g.171588423G>TCA343715455PRRC2Cc.8117G>T (p.Ser2706Ile)
c.2287G>T
c.2692G>T
c.8111G>T (p.Ser2704Ile)
n.135G>T
c.3559G>T
n.298G>T
c.8132G>T (p.Ser2711Ile)
c.8126G>T (p.Ser2709Ile)
c.8030G>T (p.Ser2677Ile)
c.8028G>T (p.Gln2676His)
c.8013G>T (p.Gln2671His)
c.7967G>T (p.Ser2656Ile)
n.8325G>T
n.8310G>T
1g.171588424C>ACA343715460PRRC2Cc.8118C>A (p.Ser2706Arg)
c.2288C>A
c.2693C>A
c.8112C>A (p.Ser2704Arg)
n.136C>A
c.3560C>A
n.299C>A
c.8133C>A (p.Ser2711Arg)
c.8127C>A (p.Ser2709Arg)
c.8031C>A (p.Ser2677Arg)
c.8029C>A (p.His2677Asn)
c.8014C>A (p.His2672Asn)
c.7968C>A (p.Ser2656Arg)
n.8326C>A
n.8311C>A
1g.171588424C>GCA343715462PRRC2Cc.8118C>G (p.Ser2706Arg)
c.2288C>G
c.2693C>G
c.8112C>G (p.Ser2704Arg)
n.136C>G
c.3560C>G
n.299C>G
c.8133C>G (p.Ser2711Arg)
c.8127C>G (p.Ser2709Arg)
c.8031C>G (p.Ser2677Arg)
c.8029C>G (p.His2677Asp)
c.8014C>G (p.His2672Asp)
c.7968C>G (p.Ser2656Arg)
n.8326C>G
n.8311C>G
1g.171588424C>TCA421774333PRRC2Cc.8118C>T (p.Ser2706=)
c.2288C>T
c.2693C>T
c.8112C>T (p.Ser2704=)
n.136C>T
c.3560C>T
n.299C>T
c.8133C>T (p.Ser2711=)
c.8127C>T (p.Ser2709=)
c.8031C>T (p.Ser2677=)
c.8029C>T (p.His2677Tyr)
c.8014C>T (p.His2672Tyr)
c.7968C>T (p.Ser2656=)
n.8326C>T
n.8311C>T
1g.171588425A=CA1206996697PRRC2Cc.8119A= (p.Ile2707=)
c.2289A=
c.2694A=
c.8113A= (p.Ile2705=)
n.137A=
c.3561A=
n.300A=
c.8134A= (p.Ile2712=)
c.8128A= (p.Ile2710=)
c.8032A= (p.Ile2678=)
c.8030A= (p.His2677=)
c.8015A= (p.His2672=)
c.7969A= (p.Ile2657=)
n.8327A=
n.8312A=
1g.171588425A>CCA343715466PRRC2Cc.8119A>C (p.Ile2707Leu)
c.2289A>C
c.2694A>C
c.8113A>C (p.Ile2705Leu)
n.137A>C
c.3561A>C
n.300A>C
c.8134A>C (p.Ile2712Leu)
c.8128A>C (p.Ile2710Leu)
c.8032A>C (p.Ile2678Leu)
c.8030A>C (p.His2677Pro)
c.8015A>C (p.His2672Pro)
c.7969A>C (p.Ile2657Leu)
n.8327A>C
n.8312A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.171588425A>GCA343715469PRRC2Cc.8119A>G (p.Ile2707Val)
c.2289A>G
c.2694A>G
c.8113A>G (p.Ile2705Val)
n.137A>G
c.3561A>G
n.300A>G
c.8134A>G (p.Ile2712Val)
c.8128A>G (p.Ile2710Val)
c.8032A>G (p.Ile2678Val)
c.8030A>G (p.His2677Arg)
c.8015A>G (p.His2672Arg)
c.7969A>G (p.Ile2657Val)
n.8327A>G
n.8312A>G
 gnomAD v4
1g.171588425A>TCA343715470PRRC2Cc.8119A>T (p.Ile2707Phe)
c.2289A>T
c.2694A>T
c.8113A>T (p.Ile2705Phe)
n.137A>T
c.3561A>T
n.300A>T
c.8134A>T (p.Ile2712Phe)
c.8128A>T (p.Ile2710Phe)
c.8032A>T (p.Ile2678Phe)
c.8030A>T (p.His2677Leu)
c.8015A>T (p.His2672Leu)
c.7969A>T (p.Ile2657Phe)
n.8327A>T
n.8312A>T
1g.171588426T>ACA343715473PRRC2Cc.8120T>A (p.Ile2707Asn)
c.2290T>A
c.2695T>A
c.8114T>A (p.Ile2705Asn)
n.138T>A
c.3562T>A
n.301T>A
c.8135T>A (p.Ile2712Asn)
c.8129T>A (p.Ile2710Asn)
c.8033T>A (p.Ile2678Asn)
c.8031T>A (p.His2677Gln)
c.8016T>A (p.His2672Gln)
c.7970T>A (p.Ile2657Asn)
n.8328T>A
n.8313T>A
1g.171588426T>CCA343715476PRRC2Cc.8120T>C (p.Ile2707Thr)
c.2290T>C
c.2695T>C
c.8114T>C (p.Ile2705Thr)
n.138T>C
c.3562T>C
n.301T>C
c.8135T>C (p.Ile2712Thr)
c.8129T>C (p.Ile2710Thr)
c.8033T>C (p.Ile2678Thr)
c.8031T>C (p.His2677=)
c.8016T>C (p.His2672=)
c.7970T>C (p.Ile2657Thr)
n.8328T>C
n.8313T>C
1g.171588426T>GCA343715479PRRC2Cc.8120T>G (p.Ile2707Ser)
c.2290T>G
c.2695T>G
c.8114T>G (p.Ile2705Ser)
n.138T>G
c.3562T>G
n.301T>G
c.8135T>G (p.Ile2712Ser)
c.8129T>G (p.Ile2710Ser)
c.8033T>G (p.Ile2678Ser)
c.8031T>G (p.His2677Gln)
c.8016T>G (p.His2672Gln)
c.7970T>G (p.Ile2657Ser)
n.8328T>G
n.8313T>G
1g.171588427T>ACA421774334PRRC2Cc.8121T>A (p.Ile2707=)
c.2291T>A
c.2696T>A
c.8115T>A (p.Ile2705=)
n.139T>A
c.3563T>A
n.302T>A
c.8136T>A (p.Ile2712=)
c.8130T>A (p.Ile2710=)
c.8034T>A (p.Ile2678=)
c.8032T>A (p.Cys2678Ser)
c.8017T>A (p.Cys2673Ser)
c.7971T>A (p.Ile2657=)
n.8329T>A
n.8314T>A
1g.171588427T>CCA421774335PRRC2Cc.8121T>C (p.Ile2707=)
c.2291T>C
c.2696T>C
c.8115T>C (p.Ile2705=)
n.139T>C
c.3563T>C
n.302T>C
c.8136T>C (p.Ile2712=)
c.8130T>C (p.Ile2710=)
c.8034T>C (p.Ile2678=)
c.8032T>C (p.Cys2678Arg)
c.8017T>C (p.Cys2673Arg)
c.7971T>C (p.Ile2657=)
n.8329T>C
n.8314T>C
1g.171588427T>GCA343715482PRRC2Cc.8121T>G (p.Ile2707Met)
c.2291T>G
c.2696T>G
c.8115T>G (p.Ile2705Met)
n.139T>G
c.3563T>G
n.302T>G
c.8136T>G (p.Ile2712Met)
c.8130T>G (p.Ile2710Met)
c.8034T>G (p.Ile2678Met)
c.8032T>G (p.Cys2678Gly)
c.8017T>G (p.Cys2673Gly)
c.7971T>G (p.Ile2657Met)
n.8329T>G
n.8314T>G
1g.171588428G>ACA343715485PRRC2Cc.8122G>A (p.Val2708Ile)
c.2292G>A
c.2697G>A
c.8116G>A (p.Val2706Ile)
n.140G>A
c.3564G>A
n.303G>A
c.8137G>A (p.Val2713Ile)
c.8131G>A (p.Val2711Ile)
c.8035G>A (p.Val2679Ile)
c.8033G>A (p.Cys2678Tyr)
c.8018G>A (p.Cys2673Tyr)
c.7972G>A (p.Val2658Ile)
n.8330G>A
n.8315G>A
1g.171588428G>CCA343715487PRRC2Cc.8122G>C (p.Val2708Leu)
c.2292G>C
c.2697G>C
c.8116G>C (p.Val2706Leu)
n.140G>C
c.3564G>C
n.303G>C
c.8137G>C (p.Val2713Leu)
c.8131G>C (p.Val2711Leu)
c.8035G>C (p.Val2679Leu)
c.8033G>C (p.Cys2678Ser)
c.8018G>C (p.Cys2673Ser)
c.7972G>C (p.Val2658Leu)
n.8330G>C
n.8315G>C
1g.171588428G>TCA343715490PRRC2Cc.8122G>T (p.Val2708Phe)
c.2292G>T
c.2697G>T
c.8116G>T (p.Val2706Phe)
n.140G>T
c.3564G>T
n.303G>T
c.8137G>T (p.Val2713Phe)
c.8131G>T (p.Val2711Phe)
c.8035G>T (p.Val2679Phe)
c.8033G>T (p.Cys2678Phe)
c.8018G>T (p.Cys2673Phe)
c.7972G>T (p.Val2658Phe)
n.8330G>T
n.8315G>T
1g.171588429T>ACA343715494PRRC2Cc.8123T>A (p.Val2708Asp)
c.2293T>A
c.2698T>A
c.8117T>A (p.Val2706Asp)
n.141T>A
c.3565T>A
n.304T>A
c.8138T>A (p.Val2713Asp)
c.8132T>A (p.Val2711Asp)
c.8036T>A (p.Val2679Asp)
c.8034T>A (p.Cys2678Ter)
c.8019T>A (p.Cys2673Ter)
c.7973T>A (p.Val2658Asp)
n.8331T>A
n.8316T>A
1g.171588429T>CCA343715498PRRC2Cc.8123T>C (p.Val2708Ala)
c.2293T>C
c.2698T>C
c.8117T>C (p.Val2706Ala)
n.141T>C
c.3565T>C
n.304T>C
c.8138T>C (p.Val2713Ala)
c.8132T>C (p.Val2711Ala)
c.8036T>C (p.Val2679Ala)
c.8034T>C (p.Cys2678=)
c.8019T>C (p.Cys2673=)
c.7973T>C (p.Val2658Ala)
n.8331T>C
n.8316T>C
1g.171588429T>GCA343715496PRRC2Cc.8123T>G (p.Val2708Gly)
c.2293T>G
c.2698T>G
c.8117T>G (p.Val2706Gly)
n.141T>G
c.3565T>G
n.304T>G
c.8138T>G (p.Val2713Gly)
c.8132T>G (p.Val2711Gly)
c.8036T>G (p.Val2679Gly)
c.8034T>G (p.Cys2678Trp)
c.8019T>G (p.Cys2673Trp)
c.7973T>G (p.Val2658Gly)
n.8331T>G
n.8316T>G
1g.171588430C>ACA421774338PRRC2Cc.8124C>A (p.Val2708=)
c.2294C>A
c.2699C>A
c.8118C>A (p.Val2706=)
n.142C>A
c.3566C>A
n.305C>A
c.8139C>A (p.Val2713=)
c.8133C>A (p.Val2711=)
c.8037C>A (p.Val2679=)
c.8035C>A (p.Leu2679Ile)
c.8020C>A (p.Leu2674Ile)
c.7974C>A (p.Val2658=)
n.8332C>A
n.8317C>A
1g.171588430C>GCA421774337PRRC2Cc.8124C>G (p.Val2708=)
c.2294C>G
c.2699C>G
c.8118C>G (p.Val2706=)
n.142C>G
c.3566C>G
n.305C>G
c.8139C>G (p.Val2713=)
c.8133C>G (p.Val2711=)
c.8037C>G (p.Val2679=)
c.8035C>G (p.Leu2679Val)
c.8020C>G (p.Leu2674Val)
c.7974C>G (p.Val2658=)
n.8332C>G
n.8317C>G
1g.171588430C>TCA421774336PRRC2Cc.8124C>T (p.Val2708=)
c.2294C>T
c.2699C>T
c.8118C>T (p.Val2706=)
n.142C>T
c.3566C>T
n.305C>T
c.8139C>T (p.Val2713=)
c.8133C>T (p.Val2711=)
c.8037C>T (p.Val2679=)
c.8035C>T (p.Leu2679=)
c.8020C>T (p.Leu2674=)
c.7974C>T (p.Val2658=)
n.8332C>T
n.8317C>T
 gnomAD v4
1g.171588431T>ACA343715502PRRC2Cc.8125T>A (p.Tyr2709Asn)
c.2295T>A
c.2700T>A
c.8119T>A (p.Tyr2707Asn)
n.143T>A
c.3567T>A
n.306T>A
c.8140T>A (p.Tyr2714Asn)
c.8134T>A (p.Tyr2712Asn)
c.8038T>A (p.Tyr2680Asn)
c.8036T>A (p.Leu2679Gln)
c.8021T>A (p.Leu2674Gln)
c.7975T>A (p.Tyr2659Asn)
n.8333T>A
n.8318T>A
1g.171588431T>CCA343715508PRRC2Cc.8125T>C (p.Tyr2709His)
c.2295T>C
c.2700T>C
c.8119T>C (p.Tyr2707His)
n.143T>C
c.3567T>C
n.306T>C
c.8140T>C (p.Tyr2714His)
c.8134T>C (p.Tyr2712His)
c.8038T>C (p.Tyr2680His)
c.8036T>C (p.Leu2679Pro)
c.8021T>C (p.Leu2674Pro)
c.7975T>C (p.Tyr2659His)
n.8333T>C
n.8318T>C
 gnomAD v4
1g.171588431T>GCA343715506PRRC2Cc.8125T>G (p.Tyr2709Asp)
c.2295T>G
c.2700T>G
c.8119T>G (p.Tyr2707Asp)
n.143T>G
c.3567T>G
n.306T>G
c.8140T>G (p.Tyr2714Asp)
c.8134T>G (p.Tyr2712Asp)
c.8038T>G (p.Tyr2680Asp)
c.8036T>G (p.Leu2679Arg)
c.8021T>G (p.Leu2674Arg)
c.7975T>G (p.Tyr2659Asp)
n.8333T>G
n.8318T>G
1g.171588432A=CA1206996698PRRC2Cc.8126A= (p.Tyr2709=)
c.2296A=
c.2701A=
c.8120A= (p.Tyr2707=)
n.144A=
c.3568A=
n.307A=
c.8141A= (p.Tyr2714=)
c.8135A= (p.Tyr2712=)
c.8039A= (p.Tyr2680=)
c.8037A= (p.Leu2679=)
c.8022A= (p.Leu2674=)
c.7976A= (p.Tyr2659=)
n.8334A=
n.8319A=
1g.171588432A>CCA343715512PRRC2Cc.8126A>C (p.Tyr2709Ser)
c.2296A>C
c.2701A>C
c.8120A>C (p.Tyr2707Ser)
n.144A>C
c.3568A>C
n.307A>C
c.8141A>C (p.Tyr2714Ser)
c.8135A>C (p.Tyr2712Ser)
c.8039A>C (p.Tyr2680Ser)
c.8037A>C (p.Leu2679=)
c.8022A>C (p.Leu2674=)
c.7976A>C (p.Tyr2659Ser)
n.8334A>C
n.8319A>C
 dbSNP
1g.171588432A>GCA343715514PRRC2Cc.8126A>G (p.Tyr2709Cys)
c.2296A>G
c.2701A>G
c.8120A>G (p.Tyr2707Cys)
n.144A>G
c.3568A>G
n.307A>G
c.8141A>G (p.Tyr2714Cys)
c.8135A>G (p.Tyr2712Cys)
c.8039A>G (p.Tyr2680Cys)
c.8037A>G (p.Leu2679=)
c.8022A>G (p.Leu2674=)
c.7976A>G (p.Tyr2659Cys)
n.8334A>G
n.8319A>G
 dbSNP COSMIC COSMIC
1g.171588432A>TCA343715518PRRC2Cc.8126A>T (p.Tyr2709Phe)
c.2296A>T
c.2701A>T
c.8120A>T (p.Tyr2707Phe)
n.144A>T
c.3568A>T
n.307A>T
c.8141A>T (p.Tyr2714Phe)
c.8135A>T (p.Tyr2712Phe)
c.8039A>T (p.Tyr2680Phe)
c.8037A>T (p.Leu2679=)
c.8022A>T (p.Leu2674=)
c.7976A>T (p.Tyr2659Phe)
n.8334A>T
n.8319A>T
1g.171588433C>ACA343715520PRRC2Cc.8127C>A (p.Tyr2709Ter)
c.2297C>A
c.2702C>A
c.8121C>A (p.Tyr2707Ter)
n.145C>A
c.3569C>A
n.308C>A
c.8142C>A (p.Tyr2714Ter)
c.8136C>A (p.Tyr2712Ter)
c.8040C>A (p.Tyr2680Ter)
c.8038C>A (p.Pro2680Thr)
c.8023C>A (p.Pro2675Thr)
c.7977C>A (p.Tyr2659Ter)
n.8335C>A
n.8320C>A
1g.171588433C>GCA343715522PRRC2Cc.8127C>G (p.Tyr2709Ter)
c.2297C>G
c.2702C>G
c.8121C>G (p.Tyr2707Ter)
n.145C>G
c.3569C>G
n.308C>G
c.8142C>G (p.Tyr2714Ter)
c.8136C>G (p.Tyr2712Ter)
c.8040C>G (p.Tyr2680Ter)
c.8038C>G (p.Pro2680Ala)
c.8023C>G (p.Pro2675Ala)
c.7977C>G (p.Tyr2659Ter)
n.8335C>G
n.8320C>G
1g.171588433C>TCA421774339PRRC2Cc.8127C>T (p.Tyr2709=)
c.2297C>T
c.2702C>T
c.8121C>T (p.Tyr2707=)
n.145C>T
c.3569C>T
n.308C>T
c.8142C>T (p.Tyr2714=)
c.8136C>T (p.Tyr2712=)
c.8040C>T (p.Tyr2680=)
c.8038C>T (p.Pro2680Ser)
c.8023C>T (p.Pro2675Ser)
c.7977C>T (p.Tyr2659=)
n.8335C>T
n.8320C>T
1g.171588434C>ACA343715527PRRC2Cc.8128C>A (p.Gln2710Lys)
c.2298C>A
c.2703C>A
c.8122C>A (p.Gln2708Lys)
n.146C>A
c.3570C>A
n.309C>A
c.8143C>A (p.Gln2715Lys)
c.8137C>A (p.Gln2713Lys)
c.8041C>A (p.Gln2681Lys)
c.8039C>A (p.Pro2680Gln)
c.8024C>A (p.Pro2675Gln)
c.7978C>A (p.Gln2660Lys)
n.8336C>A
n.8321C>A
1g.171588434C>GCA343715529PRRC2Cc.8128C>G (p.Gln2710Glu)
c.2298C>G
c.2703C>G
c.8122C>G (p.Gln2708Glu)
n.146C>G
c.3570C>G
n.309C>G
c.8143C>G (p.Gln2715Glu)
c.8137C>G (p.Gln2713Glu)
c.8041C>G (p.Gln2681Glu)
c.8039C>G (p.Pro2680Arg)
c.8024C>G (p.Pro2675Arg)
c.7978C>G (p.Gln2660Glu)
n.8336C>G
n.8321C>G
1g.171588434C>TCA343715532PRRC2Cc.8128C>T (p.Gln2710Ter)
c.2298C>T
c.2703C>T
c.8122C>T (p.Gln2708Ter)
n.146C>T
c.3570C>T
n.309C>T
c.8143C>T (p.Gln2715Ter)
c.8137C>T (p.Gln2713Ter)
c.8041C>T (p.Gln2681Ter)
c.8039C>T (p.Pro2680Leu)
c.8024C>T (p.Pro2675Leu)
c.7978C>T (p.Gln2660Ter)
n.8336C>T
n.8321C>T
1g.171588435A>CCA343715535PRRC2Cc.8129A>C (p.Gln2710Pro)
c.2299A>C
c.2704A>C
c.8123A>C (p.Gln2708Pro)
n.147A>C
c.3571A>C
n.310A>C
c.8144A>C (p.Gln2715Pro)
c.8138A>C (p.Gln2713Pro)
c.8042A>C (p.Gln2681Pro)
c.8040A>C (p.Pro2680=)
c.8025A>C (p.Pro2675=)
c.7979A>C (p.Gln2660Pro)
n.8337A>C
n.8322A>C
 gnomAD v4
1g.171588435A>GCA343715537PRRC2Cc.8129A>G (p.Gln2710Arg)
c.2299A>G
c.2704A>G
c.8123A>G (p.Gln2708Arg)
n.147A>G
c.3571A>G
n.310A>G
c.8144A>G (p.Gln2715Arg)
c.8138A>G (p.Gln2713Arg)
c.8042A>G (p.Gln2681Arg)
c.8040A>G (p.Pro2680=)
c.8025A>G (p.Pro2675=)
c.7979A>G (p.Gln2660Arg)
n.8337A>G
n.8322A>G
1g.171588435A>TCA343715540PRRC2Cc.8129A>T (p.Gln2710Leu)
c.2299A>T
c.2704A>T
c.8123A>T (p.Gln2708Leu)
n.147A>T
c.3571A>T
n.310A>T
c.8144A>T (p.Gln2715Leu)
c.8138A>T (p.Gln2713Leu)
c.8042A>T (p.Gln2681Leu)
c.8040A>T (p.Pro2680=)
c.8025A>T (p.Pro2675=)
c.7979A>T (p.Gln2660Leu)
n.8337A>T
n.8322A>T
1g.171588436G>ACA421774340PRRC2Cc.8130G>A (p.Gln2710=)
c.2300G>A
c.2705G>A
c.8124G>A (p.Gln2708=)
n.148G>A
c.3572G>A
n.311G>A
c.8145G>A (p.Gln2715=)
c.8139G>A (p.Gln2713=)
c.8043G>A (p.Gln2681=)
c.8041G>A (p.Glu2681Lys)
c.8026G>A (p.Glu2676Lys)
c.7980G>A (p.Gln2660=)
n.8338G>A
n.8323G>A
1g.171588436G>CCA343715546PRRC2Cc.8130G>C (p.Gln2710His)
c.2300G>C
c.2705G>C
c.8124G>C (p.Gln2708His)
n.148G>C
c.3572G>C
n.311G>C
c.8145G>C (p.Gln2715His)
c.8139G>C (p.Gln2713His)
c.8043G>C (p.Gln2681His)
c.8041G>C (p.Glu2681Gln)
c.8026G>C (p.Glu2676Gln)
c.7980G>C (p.Gln2660His)
n.8338G>C
n.8323G>C
1g.171588436G>TCA343715544PRRC2Cc.8130G>T (p.Gln2710His)
c.2300G>T
c.2705G>T
c.8124G>T (p.Gln2708His)
n.148G>T
c.3572G>T
n.311G>T
c.8145G>T (p.Gln2715His)
c.8139G>T (p.Gln2713His)
c.8043G>T (p.Gln2681His)
c.8041G>T (p.Glu2681Ter)
c.8026G>T (p.Glu2676Ter)
c.7980G>T (p.Gln2660His)
n.8338G>T
n.8323G>T
1g.171588437A>CCA343715550PRRC2Cc.8131A>C (p.Lys2711Gln)
c.2301A>C
c.2706A>C
c.8125A>C (p.Lys2709Gln)
n.149A>C
c.3573A>C
n.312A>C
c.8146A>C (p.Lys2716Gln)
c.8140A>C (p.Lys2714Gln)
c.8044A>C (p.Lys2682Gln)
c.8042A>C (p.Glu2681Ala)
c.8027A>C (p.Glu2676Ala)
c.7981A>C (p.Lys2661Gln)
n.8339A>C
n.8324A>C
1g.171588437A>GCA343715552PRRC2Cc.8131A>G (p.Lys2711Glu)
c.2301A>G
c.2706A>G
c.8125A>G (p.Lys2709Glu)
n.149A>G
c.3573A>G
n.312A>G
c.8146A>G (p.Lys2716Glu)
c.8140A>G (p.Lys2714Glu)
c.8044A>G (p.Lys2682Glu)
c.8042A>G (p.Glu2681Gly)
c.8027A>G (p.Glu2676Gly)
c.7981A>G (p.Lys2661Glu)
n.8339A>G
n.8324A>G
1g.171588437A>TCA343715555PRRC2Cc.8131A>T (p.Lys2711Ter)
c.2301A>T
c.2706A>T
c.8125A>T (p.Lys2709Ter)
n.149A>T
c.3573A>T
n.312A>T
c.8146A>T (p.Lys2716Ter)
c.8140A>T (p.Lys2714Ter)
c.8044A>T (p.Lys2682Ter)
c.8042A>T (p.Glu2681Val)
c.8027A>T (p.Glu2676Val)
c.7981A>T (p.Lys2661Ter)
n.8339A>T
n.8324A>T
1g.171588438A>CCA343715558PRRC2Cc.8132A>C (p.Lys2711Thr)
c.2302A>C
c.2707A>C
c.8126A>C (p.Lys2709Thr)
n.150A>C
c.3574A>C
n.313A>C
c.8147A>C (p.Lys2716Thr)
c.8141A>C (p.Lys2714Thr)
c.8045A>C (p.Lys2682Thr)
c.8043A>C (p.Glu2681Asp)
c.8028A>C (p.Glu2676Asp)
c.7982A>C (p.Lys2661Thr)
n.8340A>C
n.8325A>C
1g.171588438A>GCA343715561PRRC2Cc.8132A>G (p.Lys2711Arg)
c.2302A>G
c.2707A>G
c.8126A>G (p.Lys2709Arg)
n.150A>G
c.3574A>G
n.313A>G
c.8147A>G (p.Lys2716Arg)
c.8141A>G (p.Lys2714Arg)
c.8045A>G (p.Lys2682Arg)
c.8043A>G (p.Glu2681=)
c.8028A>G (p.Glu2676=)
c.7982A>G (p.Lys2661Arg)
n.8340A>G
n.8325A>G
1g.171588438A>TCA343715563PRRC2Cc.8132A>T (p.Lys2711Met)
c.2302A>T
c.2707A>T
c.8126A>T (p.Lys2709Met)
n.150A>T
c.3574A>T
n.313A>T
c.8147A>T (p.Lys2716Met)
c.8141A>T (p.Lys2714Met)
c.8045A>T (p.Lys2682Met)
c.8043A>T (p.Glu2681Asp)
c.8028A>T (p.Glu2676Asp)
c.7982A>T (p.Lys2661Met)
n.8340A>T
n.8325A>T
1g.171588439G>ACA421774341PRRC2Cc.8133G>A (p.Lys2711=)
c.2303G>A
c.2708G>A
c.8127G>A (p.Lys2709=)
n.151G>A
c.3575G>A
n.314G>A
c.8148G>A (p.Lys2716=)
c.8142G>A (p.Lys2714=)
c.8046G>A (p.Lys2682=)
c.8044G>A (p.Ala2682Thr)
c.8029G>A (p.Ala2677Thr)
c.7983G>A (p.Lys2661=)
n.8341G>A
n.8326G>A
1g.171588439G>CCA343715565PRRC2Cc.8133G>C (p.Lys2711Asn)
c.2303G>C
c.2708G>C
c.8127G>C (p.Lys2709Asn)
n.151G>C
c.3575G>C
n.314G>C
c.8148G>C (p.Lys2716Asn)
c.8142G>C (p.Lys2714Asn)
c.8046G>C (p.Lys2682Asn)
c.8044G>C (p.Ala2682Pro)
c.8029G>C (p.Ala2677Pro)
c.7983G>C (p.Lys2661Asn)
n.8341G>C
n.8326G>C
1g.171588439G=CA1206996699PRRC2Cc.8133G= (p.Lys2711=)
c.2303G=
c.2708G=
c.8127G= (p.Lys2709=)
n.151G=
c.3575G=
n.314G=
c.8148G= (p.Lys2716=)
c.8142G= (p.Lys2714=)
c.8046G= (p.Lys2682=)
c.8044G= (p.Ala2682=)
c.8029G= (p.Ala2677=)
c.7983G= (p.Lys2661=)
n.8341G=
n.8326G=
1g.171588439G>TCA343715568PRRC2Cc.8133G>T (p.Lys2711Asn)
c.2303G>T
c.2708G>T
c.8127G>T (p.Lys2709Asn)
n.151G>T
c.3575G>T
n.314G>T
c.8148G>T (p.Lys2716Asn)
c.8142G>T (p.Lys2714Asn)
c.8046G>T (p.Lys2682Asn)
c.8044G>T (p.Ala2682Ser)
c.8029G>T (p.Ala2677Ser)
c.7983G>T (p.Lys2661Asn)
n.8341G>T
n.8326G>T
 dbSNP gnomAD v4
1g.171588440C>ACA343715570PRRC2Cc.8134C>A (p.Gln2712Lys)
c.2304C>A
c.2709C>A
c.8128C>A (p.Gln2710Lys)
n.152C>A
c.3576C>A
n.315C>A
c.8149C>A (p.Gln2717Lys)
c.8143C>A (p.Gln2715Lys)
c.8047C>A (p.Gln2683Lys)
c.8045C>A (p.Ala2682Glu)
c.8030C>A (p.Ala2677Glu)
c.7984C>A (p.Gln2662Lys)
n.8342C>A
n.8327C>A
 dbSNP
1g.171588440C=CA1206996700PRRC2Cc.8134C= (p.Gln2712=)
c.2304C=
c.2709C=
c.8128C= (p.Gln2710=)
n.152C=
c.3576C=
n.315C=
c.8149C= (p.Gln2717=)
c.8143C= (p.Gln2715=)
c.8047C= (p.Gln2683=)
c.8045C= (p.Ala2682=)
c.8030C= (p.Ala2677=)
c.7984C= (p.Gln2662=)
n.8342C=
n.8327C=
1g.171588440C>GCA1243922PRRC2Cc.8134C>G (p.Gln2712Glu)
c.2304C>G
c.2709C>G
c.8128C>G (p.Gln2710Glu)
n.152C>G
c.3576C>G
n.315C>G
c.8149C>G (p.Gln2717Glu)
c.8143C>G (p.Gln2715Glu)
c.8047C>G (p.Gln2683Glu)
c.8045C>G (p.Ala2682Gly)
c.8030C>G (p.Ala2677Gly)
c.7984C>G (p.Gln2662Glu)
n.8342C>G
n.8327C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.171588440C>TCA343715575PRRC2Cc.8134C>T (p.Gln2712Ter)
c.2304C>T
c.2709C>T
c.8128C>T (p.Gln2710Ter)
n.152C>T
c.3576C>T
n.315C>T
c.8149C>T (p.Gln2717Ter)
c.8143C>T (p.Gln2715Ter)
c.8047C>T (p.Gln2683Ter)
c.8045C>T (p.Ala2682Val)
c.8030C>T (p.Ala2677Val)
c.7984C>T (p.Gln2662Ter)
n.8342C>T
n.8327C>T
1g.171588441A>CCA343715582PRRC2Cc.8135A>C (p.Gln2712Pro)
c.2305A>C
c.2710A>C
c.8129A>C (p.Gln2710Pro)
n.153A>C
c.3577A>C
n.316A>C
c.8150A>C (p.Gln2717Pro)
c.8144A>C (p.Gln2715Pro)
c.8048A>C (p.Gln2683Pro)
c.8046A>C (p.Ala2682=)
c.8031A>C (p.Ala2677=)
c.7985A>C (p.Gln2662Pro)
n.8343A>C
n.8328A>C
1g.171588441A>GCA343715584PRRC2Cc.8135A>G (p.Gln2712Arg)
c.2305A>G
c.2710A>G
c.8129A>G (p.Gln2710Arg)
n.153A>G
c.3577A>G
n.316A>G
c.8150A>G (p.Gln2717Arg)
c.8144A>G (p.Gln2715Arg)
c.8048A>G (p.Gln2683Arg)
c.8046A>G (p.Ala2682=)
c.8031A>G (p.Ala2677=)
c.7985A>G (p.Gln2662Arg)
n.8343A>G
n.8328A>G
1g.171588441A>TCA343715581PRRC2Cc.8135A>T (p.Gln2712Leu)
c.2305A>T
c.2710A>T
c.8129A>T (p.Gln2710Leu)
n.153A>T
c.3577A>T
n.316A>T
c.8150A>T (p.Gln2717Leu)
c.8144A>T (p.Gln2715Leu)
c.8048A>T (p.Gln2683Leu)
c.8046A>T (p.Ala2682=)
c.8031A>T (p.Ala2677=)
c.7985A>T (p.Gln2662Leu)
n.8343A>T
n.8328A>T
1g.171588442G>ACA1243923PRRC2Cc.8136G>A (p.Gln2712=)
c.2306G>A
c.2711G>A
c.8130G>A (p.Gln2710=)
n.154G>A
c.3578G>A
n.317G>A
c.8151G>A (p.Gln2717=)
c.8145G>A (p.Gln2715=)
c.8049G>A (p.Gln2683=)
c.8047G>A (p.Val2683Ile)
c.8032G>A (p.Val2678Ile)
c.7986G>A (p.Gln2662=)
n.8344G>A
n.8329G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588442G>CCA343715587PRRC2Cc.8136G>C (p.Gln2712His)
c.2306G>C
c.2711G>C
c.8130G>C (p.Gln2710His)
n.154G>C
c.3578G>C
n.317G>C
c.8151G>C (p.Gln2717His)
c.8145G>C (p.Gln2715His)
c.8049G>C (p.Gln2683His)
c.8047G>C (p.Val2683Leu)
c.8032G>C (p.Val2678Leu)
c.7986G>C (p.Gln2662His)
n.8344G>C
n.8329G>C
1g.171588442G=CA1144087759PRRC2Cc.8136G= (p.Gln2712=)
c.2306G=
c.2711G=
c.8130G= (p.Gln2710=)
n.154G=
c.3578G=
n.317G=
c.8151G= (p.Gln2717=)
c.8145G= (p.Gln2715=)
c.8049G= (p.Gln2683=)
c.8047G= (p.Val2683=)
c.8032G= (p.Val2678=)
c.7986G= (p.Gln2662=)
n.8344G=
n.8329G=
1g.171588442G>TCA343715590PRRC2Cc.8136G>T (p.Gln2712His)
c.2306G>T
c.2711G>T
c.8130G>T (p.Gln2710His)
n.154G>T
c.3578G>T
n.317G>T
c.8151G>T (p.Gln2717His)
c.8145G>T (p.Gln2715His)
c.8049G>T (p.Gln2683His)
c.8047G>T (p.Val2683Phe)
c.8032G>T (p.Val2678Phe)
c.7986G>T (p.Gln2662His)
n.8344G>T
n.8329G>T
 dbSNP gnomAD v2 gnomAD v4
1g.171588443T>ACA343715592PRRC2Cc.8137T>A (p.Phe2713Ile)
c.2307T>A
c.2712T>A
c.8131T>A (p.Phe2711Ile)
n.155T>A
c.3579T>A
n.318T>A
c.8152T>A (p.Phe2718Ile)
c.8146T>A (p.Phe2716Ile)
c.8050T>A (p.Phe2684Ile)
c.8048T>A (p.Val2683Asp)
c.8033T>A (p.Val2678Asp)
c.7987T>A (p.Phe2663Ile)
n.8345T>A
n.8330T>A
1g.171588443T>CCA343715594PRRC2Cc.8137T>C (p.Phe2713Leu)
c.2307T>C
c.2712T>C
c.8131T>C (p.Phe2711Leu)
n.155T>C
c.3579T>C
n.318T>C
c.8152T>C (p.Phe2718Leu)
c.8146T>C (p.Phe2716Leu)
c.8050T>C (p.Phe2684Leu)
c.8048T>C (p.Val2683Ala)
c.8033T>C (p.Val2678Ala)
c.7987T>C (p.Phe2663Leu)
n.8345T>C
n.8330T>C
1g.171588443T>GCA343715597PRRC2Cc.8137T>G (p.Phe2713Val)
c.2307T>G
c.2712T>G
c.8131T>G (p.Phe2711Val)
n.155T>G
c.3579T>G
n.318T>G
c.8152T>G (p.Phe2718Val)
c.8146T>G (p.Phe2716Val)
c.8050T>G (p.Phe2684Val)
c.8048T>G (p.Val2683Gly)
c.8033T>G (p.Val2678Gly)
c.7987T>G (p.Phe2663Val)
n.8345T>G
n.8330T>G
1g.171588444T>ACA343715605PRRC2Cc.8138T>A (p.Phe2713Tyr)
c.2308T>A
c.2713T>A
c.8132T>A (p.Phe2711Tyr)
n.156T>A
c.3580T>A
n.319T>A
c.8153T>A (p.Phe2718Tyr)
c.8147T>A (p.Phe2716Tyr)
c.8051T>A (p.Phe2684Tyr)
c.8049T>A (p.Val2683=)
c.8034T>A (p.Val2678=)
c.7988T>A (p.Phe2663Tyr)
n.8346T>A
n.8331T>A
1g.171588444T>CCA343715601PRRC2Cc.8138T>C (p.Phe2713Ser)
c.2308T>C
c.2713T>C
c.8132T>C (p.Phe2711Ser)
n.156T>C
c.3580T>C
n.319T>C
c.8153T>C (p.Phe2718Ser)
c.8147T>C (p.Phe2716Ser)
c.8051T>C (p.Phe2684Ser)
c.8049T>C (p.Val2683=)
c.8034T>C (p.Val2678=)
c.7988T>C (p.Phe2663Ser)
n.8346T>C
n.8331T>C
 gnomAD v4
1g.171588444T>GCA343715603PRRC2Cc.8138T>G (p.Phe2713Cys)
c.2308T>G
c.2713T>G
c.8132T>G (p.Phe2711Cys)
n.156T>G
c.3580T>G
n.319T>G
c.8153T>G (p.Phe2718Cys)
c.8147T>G (p.Phe2716Cys)
c.8051T>G (p.Phe2684Cys)
c.8049T>G (p.Val2683=)
c.8034T>G (p.Val2678=)
c.7988T>G (p.Phe2663Cys)
n.8346T>G
n.8331T>G
1g.171588445C>ACA343715610PRRC2Cc.8139C>A (p.Phe2713Leu)
c.2309C>A
c.2714C>A
c.8133C>A (p.Phe2711Leu)
n.157C>A
c.3581C>A
n.320C>A
c.8154C>A (p.Phe2718Leu)
c.8148C>A (p.Phe2716Leu)
c.8052C>A (p.Phe2684Leu)
c.8050C>A (p.Pro2684Thr)
c.8035C>A (p.Pro2679Thr)
c.7989C>A (p.Phe2663Leu)
n.8347C>A
n.8332C>A
1g.171588445C>GCA343715611PRRC2Cc.8139C>G (p.Phe2713Leu)
c.2309C>G
c.2714C>G
c.8133C>G (p.Phe2711Leu)
n.157C>G
c.3581C>G
n.320C>G
c.8154C>G (p.Phe2718Leu)
c.8148C>G (p.Phe2716Leu)
c.8052C>G (p.Phe2684Leu)
c.8050C>G (p.Pro2684Ala)
c.8035C>G (p.Pro2679Ala)
c.7989C>G (p.Phe2663Leu)
n.8347C>G
n.8332C>G
1g.171588445C>TCA421774342PRRC2Cc.8139C>T (p.Phe2713=)
c.2309C>T
c.2714C>T
c.8133C>T (p.Phe2711=)
n.157C>T
c.3581C>T
n.320C>T
c.8154C>T (p.Phe2718=)
c.8148C>T (p.Phe2716=)
c.8052C>T (p.Phe2684=)
c.8050C>T (p.Pro2684Ser)
c.8035C>T (p.Pro2679Ser)
c.7989C>T (p.Phe2663=)
n.8347C>T
n.8332C>T
 COSMIC COSMIC
1g.171588446C>ACA343715615PRRC2Cc.8140C>A (p.Gln2714Lys)
c.2310C>A
c.2715C>A
c.8134C>A (p.Gln2712Lys)
n.158C>A
c.3582C>A
n.321C>A
c.8155C>A (p.Gln2719Lys)
c.8149C>A (p.Gln2717Lys)
c.8053C>A (p.Gln2685Lys)
c.8051C>A (p.Pro2684Gln)
c.8036C>A (p.Pro2679Gln)
c.7990C>A (p.Gln2664Lys)
n.8348C>A
n.8333C>A
1g.171588446C>GCA343715617PRRC2Cc.8140C>G (p.Gln2714Glu)
c.2310C>G
c.2715C>G
c.8134C>G (p.Gln2712Glu)
n.158C>G
c.3582C>G
n.321C>G
c.8155C>G (p.Gln2719Glu)
c.8149C>G (p.Gln2717Glu)
c.8053C>G (p.Gln2685Glu)
c.8051C>G (p.Pro2684Arg)
c.8036C>G (p.Pro2679Arg)
c.7990C>G (p.Gln2664Glu)
n.8348C>G
n.8333C>G
1g.171588446C>TCA343715619PRRC2Cc.8140C>T (p.Gln2714Ter)
c.2310C>T
c.2715C>T
c.8134C>T (p.Gln2712Ter)
n.158C>T
c.3582C>T
n.321C>T
c.8155C>T (p.Gln2719Ter)
c.8149C>T (p.Gln2717Ter)
c.8053C>T (p.Gln2685Ter)
c.8051C>T (p.Pro2684Leu)
c.8036C>T (p.Pro2679Leu)
c.7990C>T (p.Gln2664Ter)
n.8348C>T
n.8333C>T
1g.171588447A>CCA343715625PRRC2Cc.8141A>C (p.Gln2714Pro)
c.2311A>C
c.2716A>C
c.8135A>C (p.Gln2712Pro)
n.159A>C
c.3583A>C
n.322A>C
c.8156A>C (p.Gln2719Pro)
c.8150A>C (p.Gln2717Pro)
c.8054A>C (p.Gln2685Pro)
c.8052A>C (p.Pro2684=)
c.8037A>C (p.Pro2679=)
c.7991A>C (p.Gln2664Pro)
n.8349A>C
n.8334A>C
1g.171588447A>GCA343715629PRRC2Cc.8141A>G (p.Gln2714Arg)
c.2311A>G
c.2716A>G
c.8135A>G (p.Gln2712Arg)
n.159A>G
c.3583A>G
n.322A>G
c.8156A>G (p.Gln2719Arg)
c.8150A>G (p.Gln2717Arg)
c.8054A>G (p.Gln2685Arg)
c.8052A>G (p.Pro2684=)
c.8037A>G (p.Pro2679=)
c.7991A>G (p.Gln2664Arg)
n.8349A>G
n.8334A>G
1g.171588447A>TCA343715626PRRC2Cc.8141A>T (p.Gln2714Leu)
c.2311A>T
c.2716A>T
c.8135A>T (p.Gln2712Leu)
n.159A>T
c.3583A>T
n.322A>T
c.8156A>T (p.Gln2719Leu)
c.8150A>T (p.Gln2717Leu)
c.8054A>T (p.Gln2685Leu)
c.8052A>T (p.Pro2684=)
c.8037A>T (p.Pro2679=)
c.7991A>T (p.Gln2664Leu)
n.8349A>T
n.8334A>T
1g.171588448G>ACA421774343PRRC2Cc.8142G>A (p.Gln2714=)
c.2312G>A
c.2717G>A
c.8136G>A (p.Gln2712=)
n.160G>A
c.3584G>A
n.323G>A
c.8157G>A (p.Gln2719=)
c.8151G>A (p.Gln2717=)
c.8055G>A (p.Gln2685=)
c.8053G>A (p.Val2685Ile)
c.8038G>A (p.Val2680Ile)
c.7992G>A (p.Gln2664=)
n.8350G>A
n.8335G>A
1g.171588448G>CCA343715632PRRC2Cc.8142G>C (p.Gln2714His)
c.2312G>C
c.2717G>C
c.8136G>C (p.Gln2712His)
n.160G>C
c.3584G>C
n.323G>C
c.8157G>C (p.Gln2719His)
c.8151G>C (p.Gln2717His)
c.8055G>C (p.Gln2685His)
c.8053G>C (p.Val2685Leu)
c.8038G>C (p.Val2680Leu)
c.7992G>C (p.Gln2664His)
n.8350G>C
n.8335G>C
1g.171588448G>TCA343715635PRRC2Cc.8142G>T (p.Gln2714His)
c.2312G>T
c.2717G>T
c.8136G>T (p.Gln2712His)
n.160G>T
c.3584G>T
n.323G>T
c.8157G>T (p.Gln2719His)
c.8151G>T (p.Gln2717His)
c.8055G>T (p.Gln2685His)
c.8053G>T (p.Val2685Phe)
c.8038G>T (p.Val2680Phe)
c.7992G>T (p.Gln2664His)
n.8350G>T
n.8335G>T
1g.171588449T>ACA343715638PRRC2Cc.8143T>A (p.Ser2715Thr)
c.2313T>A
c.2718T>A
c.8137T>A (p.Ser2713Thr)
n.161T>A
c.3585T>A
n.324T>A
c.8158T>A (p.Ser2720Thr)
c.8152T>A (p.Ser2718Thr)
c.8056T>A (p.Ser2686Thr)
c.8054T>A (p.Val2685Asp)
c.8039T>A (p.Val2680Asp)
c.7993T>A (p.Ser2665Thr)
n.8351T>A
n.8336T>A
1g.171588449T>CCA343715641PRRC2Cc.8143T>C (p.Ser2715Pro)
c.2313T>C
c.2718T>C
c.8137T>C (p.Ser2713Pro)
n.161T>C
c.3585T>C
n.324T>C
c.8158T>C (p.Ser2720Pro)
c.8152T>C (p.Ser2718Pro)
c.8056T>C (p.Ser2686Pro)
c.8054T>C (p.Val2685Ala)
c.8039T>C (p.Val2680Ala)
c.7993T>C (p.Ser2665Pro)
n.8351T>C
n.8336T>C
1g.171588449T>GCA343715644PRRC2Cc.8143T>G (p.Ser2715Ala)
c.2313T>G
c.2718T>G
c.8137T>G (p.Ser2713Ala)
n.161T>G
c.3585T>G
n.324T>G
c.8158T>G (p.Ser2720Ala)
c.8152T>G (p.Ser2718Ala)
c.8056T>G (p.Ser2686Ala)
c.8054T>G (p.Val2685Gly)
c.8039T>G (p.Val2680Gly)
c.7993T>G (p.Ser2665Ala)
n.8351T>G
n.8336T>G
1g.171588450C>ACA343715646PRRC2Cc.8144C>A (p.Ser2715Ter)
c.2314C>A
c.2719C>A
c.8138C>A (p.Ser2713Ter)
n.162C>A
c.3586C>A
n.325C>A
c.8159C>A (p.Ser2720Ter)
c.8153C>A (p.Ser2718Ter)
c.8057C>A (p.Ser2686Ter)
c.8055C>A (p.Val2685=)
c.8040C>A (p.Val2680=)
c.7994C>A (p.Ser2665Ter)
n.8352C>A
n.8337C>A
1g.171588450C=CA1206996701PRRC2Cc.8144C= (p.Ser2715=)
c.2314C=
c.2719C=
c.8138C= (p.Ser2713=)
n.162C=
c.3586C=
n.325C=
c.8159C= (p.Ser2720=)
c.8153C= (p.Ser2718=)
c.8057C= (p.Ser2686=)
c.8055C= (p.Val2685=)
c.8040C= (p.Val2680=)
c.7994C= (p.Ser2665=)
n.8352C=
n.8337C=
1g.171588450C>GCA343715649PRRC2Cc.8144C>G (p.Ser2715Ter)
c.2314C>G
c.2719C>G
c.8138C>G (p.Ser2713Ter)
n.162C>G
c.3586C>G
n.325C>G
c.8159C>G (p.Ser2720Ter)
c.8153C>G (p.Ser2718Ter)
c.8057C>G (p.Ser2686Ter)
c.8055C>G (p.Val2685=)
c.8040C>G (p.Val2680=)
c.7994C>G (p.Ser2665Ter)
n.8352C>G
n.8337C>G
1g.171588450C>TCA343715651PRRC2Cc.8144C>T (p.Ser2715Leu)
c.2314C>T
c.2719C>T
c.8138C>T (p.Ser2713Leu)
n.162C>T
c.3586C>T
n.325C>T
c.8159C>T (p.Ser2720Leu)
c.8153C>T (p.Ser2718Leu)
c.8057C>T (p.Ser2686Leu)
c.8055C>T (p.Val2685=)
c.8040C>T (p.Val2680=)
c.7994C>T (p.Ser2665Leu)
n.8352C>T
n.8337C>T
 dbSNP gnomAD v3 gnomAD v4
1g.171588451A>CCA421774344PRRC2Cc.8145A>C (p.Ser2715=)
c.2315A>C
c.2720A>C
c.8139A>C (p.Ser2713=)
n.163A>C
c.3587A>C
n.326A>C
c.8160A>C (p.Ser2720=)
c.8154A>C (p.Ser2718=)
c.8058A>C (p.Ser2686=)
c.8056A>C (p.Ser2686Arg)
c.8041A>C (p.Ser2681Arg)
c.7995A>C (p.Ser2665=)
n.8353A>C
n.8338A>C
1g.171588451A>GCA421774345PRRC2Cc.8145A>G (p.Ser2715=)
c.2315A>G
c.2720A>G
c.8139A>G (p.Ser2713=)
n.163A>G
c.3587A>G
n.326A>G
c.8160A>G (p.Ser2720=)
c.8154A>G (p.Ser2718=)
c.8058A>G (p.Ser2686=)
c.8056A>G (p.Ser2686Gly)
c.8041A>G (p.Ser2681Gly)
c.7995A>G (p.Ser2665=)
n.8353A>G
n.8338A>G
 gnomAD v4
1g.171588451A>TCA421774346PRRC2Cc.8145A>T (p.Ser2715=)
c.2315A>T
c.2720A>T
c.8139A>T (p.Ser2713=)
n.163A>T
c.3587A>T
n.326A>T
c.8160A>T (p.Ser2720=)
c.8154A>T (p.Ser2718=)
c.8058A>T (p.Ser2686=)
c.8056A>T (p.Ser2686Cys)
c.8041A>T (p.Ser2681Cys)
c.7995A>T (p.Ser2665=)
n.8353A>T
n.8338A>T
1g.171588452G>ACA343715656PRRC2Cc.8146G>A (p.Ala2716Thr)
c.2316G>A
c.2721G>A
c.8140G>A (p.Ala2714Thr)
n.164G>A
c.3588G>A
n.327G>A
c.8161G>A (p.Ala2721Thr)
c.8155G>A (p.Ala2719Thr)
c.8059G>A (p.Ala2687Thr)
c.8057G>A (p.Ser2686Asn)
c.8042G>A (p.Ser2681Asn)
c.7996G>A (p.Ala2666Thr)
n.8354G>A
n.8339G>A
1g.171588452G>CCA343715658PRRC2Cc.8146G>C (p.Ala2716Pro)
c.2316G>C
c.2721G>C
c.8140G>C (p.Ala2714Pro)
n.164G>C
c.3588G>C
n.327G>C
c.8161G>C (p.Ala2721Pro)
c.8155G>C (p.Ala2719Pro)
c.8059G>C (p.Ala2687Pro)
c.8057G>C (p.Ser2686Thr)
c.8042G>C (p.Ser2681Thr)
c.7996G>C (p.Ala2666Pro)
n.8354G>C
n.8339G>C
1g.171588452G>TCA343715660PRRC2Cc.8146G>T (p.Ala2716Ser)
c.2316G>T
c.2721G>T
c.8140G>T (p.Ala2714Ser)
n.164G>T
c.3588G>T
n.327G>T
c.8161G>T (p.Ala2721Ser)
c.8155G>T (p.Ala2719Ser)
c.8059G>T (p.Ala2687Ser)
c.8057G>T (p.Ser2686Ile)
c.8042G>T (p.Ser2681Ile)
c.7996G>T (p.Ala2666Ser)
n.8354G>T
n.8339G>T
1g.171588453C>ACA343715668PRRC2Cc.8147C>A (p.Ala2716Asp)
c.2317C>A
c.2722C>A
c.8141C>A (p.Ala2714Asp)
n.165C>A
c.3589C>A
n.328C>A
c.8162C>A (p.Ala2721Asp)
c.8156C>A (p.Ala2719Asp)
c.8060C>A (p.Ala2687Asp)
c.8058C>A (p.Ser2686Arg)
c.8043C>A (p.Ser2681Arg)
c.7997C>A (p.Ala2666Asp)
n.8355C>A
n.8340C>A
1g.171588453C=CA1143390769PRRC2Cc.8147C= (p.Ala2716=)
c.2317C=
c.2722C=
c.8141C= (p.Ala2714=)
n.165C=
c.3589C=
n.328C=
c.8162C= (p.Ala2721=)
c.8156C= (p.Ala2719=)
c.8060C= (p.Ala2687=)
c.8058C= (p.Ser2686=)
c.8043C= (p.Ser2681=)
c.7997C= (p.Ala2666=)
n.8355C=
n.8340C=
1g.171588453C>GCA343715666PRRC2Cc.8147C>G (p.Ala2716Gly)
c.2317C>G
c.2722C>G
c.8141C>G (p.Ala2714Gly)
n.165C>G
c.3589C>G
n.328C>G
c.8162C>G (p.Ala2721Gly)
c.8156C>G (p.Ala2719Gly)
c.8060C>G (p.Ala2687Gly)
c.8058C>G (p.Ser2686Arg)
c.8043C>G (p.Ser2681Arg)
c.7997C>G (p.Ala2666Gly)
n.8355C>G
n.8340C>G
1g.171588453C>TCA1243924PRRC2Cc.8147C>T (p.Ala2716Val)
c.2317C>T
c.2722C>T
c.8141C>T (p.Ala2714Val)
n.165C>T
c.3589C>T
n.328C>T
c.8162C>T (p.Ala2721Val)
c.8156C>T (p.Ala2719Val)
c.8060C>T (p.Ala2687Val)
c.8058C>T (p.Ser2686=)
c.8043C>T (p.Ser2681=)
c.7997C>T (p.Ala2666Val)
n.8355C>T
n.8340C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588454C>ACA421774347PRRC2Cc.8148C>A (p.Ala2716=)
c.2318C>A
c.2723C>A
c.8142C>A (p.Ala2714=)
n.166C>A
c.3590C>A
n.329C>A
c.8163C>A (p.Ala2721=)
c.8157C>A (p.Ala2719=)
c.8061C>A (p.Ala2687=)
c.8059C>A (p.Pro2687Thr)
c.8044C>A (p.Pro2682Thr)
c.7998C>A (p.Ala2666=)
n.8356C>A
n.8341C>A
1g.171588454C=CA1206996702PRRC2Cc.8148C= (p.Ala2716=)
c.2318C=
c.2723C=
c.8142C= (p.Ala2714=)
n.166C=
c.3590C=
n.329C=
c.8163C= (p.Ala2721=)
c.8157C= (p.Ala2719=)
c.8061C= (p.Ala2687=)
c.8059C= (p.Pro2687=)
c.8044C= (p.Pro2682=)
c.7998C= (p.Ala2666=)
n.8356C=
n.8341C=
1g.171588454C>GCA421774348PRRC2Cc.8148C>G (p.Ala2716=)
c.2318C>G
c.2723C>G
c.8142C>G (p.Ala2714=)
n.166C>G
c.3590C>G
n.329C>G
c.8163C>G (p.Ala2721=)
c.8157C>G (p.Ala2719=)
c.8061C>G (p.Ala2687=)
c.8059C>G (p.Pro2687Ala)
c.8044C>G (p.Pro2682Ala)
c.7998C>G (p.Ala2666=)
n.8356C>G
n.8341C>G
1g.171588454C>TCA421774349PRRC2Cc.8148C>T (p.Ala2716=)
c.2318C>T
c.2723C>T
c.8142C>T (p.Ala2714=)
n.166C>T
c.3590C>T
n.329C>T
c.8163C>T (p.Ala2721=)
c.8157C>T (p.Ala2719=)
c.8061C>T (p.Ala2687=)
c.8059C>T (p.Pro2687Ser)
c.8044C>T (p.Pro2682Ser)
c.7998C>T (p.Ala2666=)
n.8356C>T
n.8341C>T
 dbSNP gnomAD v4
1g.171588456_171588457insGCGCGCCCCA916339034PRRC2Cc.8150_8151insGCGCGCCC (p.Ala2718ArgfsTer6)
c.2320_2321insGCGCGCCC
c.2725_2726insGCGCGCCC
c.8144_8145insGCGCGCCC (p.Ala2716ArgfsTer6)
n.168_169insGCGCGCCC
c.3592_3593insGCGCGCCC
n.331_332insGCGCGCCC
c.8165_8166insGCGCGCCC (p.Ala2723ArgfsTer6)
c.8159_8160insGCGCGCCC (p.Ala2721ArgfsTer6)
c.8063_8064insGCGCGCCC (p.Ala2689ArgfsTer6)
c.8061_8062insGCGCGCCC (p.Cys2688AlafsTer?)
c.8046_8047insGCGCGCCC (p.Cys2683AlafsTer?)
c.8000_8001insGCGCGCCC (p.Ala2668ArgfsTer6)
n.8358_8359insGCGCGCCC
n.8343_8344insGCGCGCCC
 dbSNP
1g.171588455C>ACA343715670PRRC2Cc.8149C>A (p.Pro2717Thr)
c.2319C>A
c.2724C>A
c.8143C>A (p.Pro2715Thr)
n.167C>A
c.3591C>A
n.330C>A
c.8164C>A (p.Pro2722Thr)
c.8158C>A (p.Pro2720Thr)
c.8062C>A (p.Pro2688Thr)
c.8060C>A (p.Pro2687His)
c.8045C>A (p.Pro2682His)
c.7999C>A (p.Pro2667Thr)
n.8357C>A
n.8342C>A
1g.171588455C>GCA343715673PRRC2Cc.8149C>G (p.Pro2717Ala)
c.2319C>G
c.2724C>G
c.8143C>G (p.Pro2715Ala)
n.167C>G
c.3591C>G
n.330C>G
c.8164C>G (p.Pro2722Ala)
c.8158C>G (p.Pro2720Ala)
c.8062C>G (p.Pro2688Ala)
c.8060C>G (p.Pro2687Arg)
c.8045C>G (p.Pro2682Arg)
c.7999C>G (p.Pro2667Ala)
n.8357C>G
n.8342C>G
1g.171588455C>TCA343715672PRRC2Cc.8149C>T (p.Pro2717Ser)
c.2319C>T
c.2724C>T
c.8143C>T (p.Pro2715Ser)
n.167C>T
c.3591C>T
n.330C>T
c.8164C>T (p.Pro2722Ser)
c.8158C>T (p.Pro2720Ser)
c.8062C>T (p.Pro2688Ser)
c.8060C>T (p.Pro2687Leu)
c.8045C>T (p.Pro2682Leu)
c.7999C>T (p.Pro2667Ser)
n.8357C>T
n.8342C>T
1g.171588456C>ACA343715677PRRC2Cc.8150C>A (p.Pro2717His)
c.2320C>A
c.2725C>A
c.8144C>A (p.Pro2715His)
n.168C>A
c.3592C>A
n.331C>A
c.8165C>A (p.Pro2722His)
c.8159C>A (p.Pro2720His)
c.8063C>A (p.Pro2688His)
c.8061C>A (p.Pro2687=)
c.8046C>A (p.Pro2682=)
c.8000C>A (p.Pro2667His)
n.8358C>A
n.8343C>A
 dbSNP gnomAD v4
1g.171588456C=CA1206996703PRRC2Cc.8150C= (p.Pro2717=)
c.2320C=
c.2725C=
c.8144C= (p.Pro2715=)
n.168C=
c.3592C=
n.331C=
c.8165C= (p.Pro2722=)
c.8159C= (p.Pro2720=)
c.8063C= (p.Pro2688=)
c.8061C= (p.Pro2687=)
c.8046C= (p.Pro2682=)
c.8000C= (p.Pro2667=)
n.8358C=
n.8343C=
1g.171588456C>GCA343715681PRRC2Cc.8150C>G (p.Pro2717Arg)
c.2320C>G
c.2725C>G
c.8144C>G (p.Pro2715Arg)
n.168C>G
c.3592C>G
n.331C>G
c.8165C>G (p.Pro2722Arg)
c.8159C>G (p.Pro2720Arg)
c.8063C>G (p.Pro2688Arg)
c.8061C>G (p.Pro2687=)
c.8046C>G (p.Pro2682=)
c.8000C>G (p.Pro2667Arg)
n.8358C>G
n.8343C>G
1g.171588456C>TCA1243925PRRC2Cc.8150C>T (p.Pro2717Leu)
c.2320C>T
c.2725C>T
c.8144C>T (p.Pro2715Leu)
n.168C>T
c.3592C>T
n.331C>T
c.8165C>T (p.Pro2722Leu)
c.8159C>T (p.Pro2720Leu)
c.8063C>T (p.Pro2688Leu)
c.8061C>T (p.Pro2687=)
c.8046C>T (p.Pro2682=)
c.8000C>T (p.Pro2667Leu)
n.8358C>T
n.8343C>T
 dbSNP ExAC gnomAD v2
1g.171588457T>ACA421774350PRRC2Cc.8151T>A (p.Pro2717=)
c.2321T>A
c.2726T>A
c.8145T>A (p.Pro2715=)
n.169T>A
c.3593T>A
n.332T>A
c.8166T>A (p.Pro2722=)
c.8160T>A (p.Pro2720=)
c.8064T>A (p.Pro2688=)
c.8062T>A (p.Cys2688Ser)
c.8047T>A (p.Cys2683Ser)
c.8001T>A (p.Pro2667=)
n.8359T>A
n.8344T>A
1g.171588457T>CCA421774351PRRC2Cc.8151T>C (p.Pro2717=)
c.2321T>C
c.2726T>C
c.8145T>C (p.Pro2715=)
n.169T>C
c.3593T>C
n.332T>C
c.8166T>C (p.Pro2722=)
c.8160T>C (p.Pro2720=)
c.8064T>C (p.Pro2688=)
c.8062T>C (p.Cys2688Arg)
c.8047T>C (p.Cys2683Arg)
c.8001T>C (p.Pro2667=)
n.8359T>C
n.8344T>C
1g.171588457T>GCA421774352PRRC2Cc.8151T>G (p.Pro2717=)
c.2321T>G
c.2726T>G
c.8145T>G (p.Pro2715=)
n.169T>G
c.3593T>G
n.332T>G
c.8166T>G (p.Pro2722=)
c.8160T>G (p.Pro2720=)
c.8064T>G (p.Pro2688=)
c.8062T>G (p.Cys2688Gly)
c.8047T>G (p.Cys2683Gly)
c.8001T>G (p.Pro2667=)
n.8359T>G
n.8344T>G
1g.171588458G>ACA343715686PRRC2Cc.8152G>A (p.Ala2718Thr)
c.2322G>A
c.2727G>A
c.8146G>A (p.Ala2716Thr)
n.170G>A
c.3594G>A
n.333G>A
c.8167G>A (p.Ala2723Thr)
c.8161G>A (p.Ala2721Thr)
c.8065G>A (p.Ala2689Thr)
c.8063G>A (p.Cys2688Tyr)
c.8048G>A (p.Cys2683Tyr)
c.8002G>A (p.Ala2668Thr)
n.8360G>A
n.8345G>A
1g.171588458G>CCA343715690PRRC2Cc.8152G>C (p.Ala2718Pro)
c.2322G>C
c.2727G>C
c.8146G>C (p.Ala2716Pro)
n.170G>C
c.3594G>C
n.333G>C
c.8167G>C (p.Ala2723Pro)
c.8161G>C (p.Ala2721Pro)
c.8065G>C (p.Ala2689Pro)
c.8063G>C (p.Cys2688Ser)
c.8048G>C (p.Cys2683Ser)
c.8002G>C (p.Ala2668Pro)
n.8360G>C
n.8345G>C
 gnomAD v4
1g.171588458G>TCA343715687PRRC2Cc.8152G>T (p.Ala2718Ser)
c.2322G>T
c.2727G>T
c.8146G>T (p.Ala2716Ser)
n.170G>T
c.3594G>T
n.333G>T
c.8167G>T (p.Ala2723Ser)
c.8161G>T (p.Ala2721Ser)
c.8065G>T (p.Ala2689Ser)
c.8063G>T (p.Cys2688Phe)
c.8048G>T (p.Cys2683Phe)
c.8002G>T (p.Ala2668Ser)
n.8360G>T
n.8345G>T
1g.171588459C>ACA343715695PRRC2Cc.8153C>A (p.Ala2718Asp)
c.2323C>A
c.2728C>A
c.8147C>A (p.Ala2716Asp)
n.171C>A
c.3595C>A
n.334C>A
c.8168C>A (p.Ala2723Asp)
c.8162C>A (p.Ala2721Asp)
c.8066C>A (p.Ala2689Asp)
c.8064C>A (p.Cys2688Ter)
c.8049C>A (p.Cys2683Ter)
c.8003C>A (p.Ala2668Asp)
n.8361C>A
n.8346C>A
1g.171588459C>GCA343715699PRRC2Cc.8153C>G (p.Ala2718Gly)
c.2323C>G
c.2728C>G
c.8147C>G (p.Ala2716Gly)
n.171C>G
c.3595C>G
n.334C>G
c.8168C>G (p.Ala2723Gly)
c.8162C>G (p.Ala2721Gly)
c.8066C>G (p.Ala2689Gly)
c.8064C>G (p.Cys2688Trp)
c.8049C>G (p.Cys2683Trp)
c.8003C>G (p.Ala2668Gly)
n.8361C>G
n.8346C>G
1g.171588459C>TCA343715696PRRC2Cc.8153C>T (p.Ala2718Val)
c.2323C>T
c.2728C>T
c.8147C>T (p.Ala2716Val)
n.171C>T
c.3595C>T
n.334C>T
c.8168C>T (p.Ala2723Val)
c.8162C>T (p.Ala2721Val)
c.8066C>T (p.Ala2689Val)
c.8064C>T (p.Cys2688=)
c.8049C>T (p.Cys2683=)
c.8003C>T (p.Ala2668Val)
n.8361C>T
n.8346C>T
 gnomAD v4
1g.171588460C>ACA421774353PRRC2Cc.8154C>A (p.Ala2718=)
c.2324C>A
c.2729C>A
c.8148C>A (p.Ala2716=)
n.172C>A
c.3596C>A
n.335C>A
c.8169C>A (p.Ala2723=)
c.8163C>A (p.Ala2721=)
c.8067C>A (p.Ala2689=)
c.8065C>A (p.His2689Asn)
c.8050C>A (p.His2684Asn)
c.8004C>A (p.Ala2668=)
n.8362C>A
n.8347C>A
 dbSNP gnomAD v3 gnomAD v4
1g.171588460C=CA1143439977PRRC2Cc.8154C= (p.Ala2718=)
c.2324C=
c.2729C=
c.8148C= (p.Ala2716=)
n.172C=
c.3596C=
n.335C=
c.8169C= (p.Ala2723=)
c.8163C= (p.Ala2721=)
c.8067C= (p.Ala2689=)
c.8065C= (p.His2689=)
c.8050C= (p.His2684=)
c.8004C= (p.Ala2668=)
n.8362C=
n.8347C=
1g.171588460C>GCA1243926PRRC2Cc.8154C>G (p.Ala2718=)
c.2324C>G
c.2729C>G
c.8148C>G (p.Ala2716=)
n.172C>G
c.3596C>G
n.335C>G
c.8169C>G (p.Ala2723=)
c.8163C>G (p.Ala2721=)
c.8067C>G (p.Ala2689=)
c.8065C>G (p.His2689Asp)
c.8050C>G (p.His2684Asp)
c.8004C>G (p.Ala2668=)
n.8362C>G
n.8347C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588460C>TCA421774354PRRC2Cc.8154C>T (p.Ala2718=)
c.2324C>T
c.2729C>T
c.8148C>T (p.Ala2716=)
n.172C>T
c.3596C>T
n.335C>T
c.8169C>T (p.Ala2723=)
c.8163C>T (p.Ala2721=)
c.8067C>T (p.Ala2689=)
c.8065C>T (p.His2689Tyr)
c.8050C>T (p.His2684Tyr)
c.8004C>T (p.Ala2668=)
n.8362C>T
n.8347C>T
1g.171588461A=CA1139934767PRRC2Cc.8155A= (p.Thr2719=)
c.2325A=
c.2730A=
c.8149A= (p.Thr2717=)
n.173A=
c.3597A=
n.336A=
c.8170A= (p.Thr2724=)
c.8164A= (p.Thr2722=)
c.8068A= (p.Thr2690=)
c.8066A= (p.His2689=)
c.8051A= (p.His2684=)
c.8005A= (p.Thr2669=)
n.8363A=
n.8348A=
1g.171588461A>CCA343715705PRRC2Cc.8155A>C (p.Thr2719Pro)
c.2325A>C
c.2730A>C
c.8149A>C (p.Thr2717Pro)
n.173A>C
c.3597A>C
n.336A>C
c.8170A>C (p.Thr2724Pro)
c.8164A>C (p.Thr2722Pro)
c.8068A>C (p.Thr2690Pro)
c.8066A>C (p.His2689Pro)
c.8051A>C (p.His2684Pro)
c.8005A>C (p.Thr2669Pro)
n.8363A>C
n.8348A>C
1g.171588461A>GCA1243927PRRC2Cc.8155A>G (p.Thr2719Ala)
c.2325A>G
c.2730A>G
c.8149A>G (p.Thr2717Ala)
n.173A>G
c.3597A>G
n.336A>G
c.8170A>G (p.Thr2724Ala)
c.8164A>G (p.Thr2722Ala)
c.8068A>G (p.Thr2690Ala)
c.8066A>G (p.His2689Arg)
c.8051A>G (p.His2684Arg)
c.8005A>G (p.Thr2669Ala)
n.8363A>G
n.8348A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.171588461A>TCA343715709PRRC2Cc.8155A>T (p.Thr2719Ser)
c.2325A>T
c.2730A>T
c.8149A>T (p.Thr2717Ser)
n.173A>T
c.3597A>T
n.336A>T
c.8170A>T (p.Thr2724Ser)
c.8164A>T (p.Thr2722Ser)
c.8068A>T (p.Thr2690Ser)
c.8066A>T (p.His2689Leu)
c.8051A>T (p.His2684Leu)
c.8005A>T (p.Thr2669Ser)
n.8363A>T
n.8348A>T

Number of alleles fetched