Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37064550T>ACA359521841CPLANE1,NIPBLc.8073T>A (p.Asn2691Lys)
c.*17T>A (n.*17T>A)
n.1996T>A
c.1-28T>A (n.1-28T>A)
c.*527T>A (n.*527T>A)
c.7329T>A (p.Asn2443Lys)
c.7926T>A (p.Asn2642Lys)
c.7875T>A (p.Asn2625Lys)
c.7692T>A (p.Asn2564Lys)
c.7413T>A (p.Asn2471Lys)
c.6456T>A (p.Asn2152Lys)
c.6447T>A (p.Asn2149Lys)
n.12132A>T
 gnomAD v4
5g.37064550T>CCA443916397CPLANE1,NIPBLc.8073T>C (p.Asn2691=)
c.*17T>C (n.*17T>C)
n.1996T>C
c.1-28T>C (n.1-28T>C)
c.*527T>C (n.*527T>C)
c.7329T>C (p.Asn2443=)
c.7926T>C (p.Asn2642=)
c.7875T>C (p.Asn2625=)
c.7692T>C (p.Asn2564=)
c.7413T>C (p.Asn2471=)
c.6456T>C (p.Asn2152=)
c.6447T>C (p.Asn2149=)
n.12132A>G
5g.37064550T>GCA359521843CPLANE1,NIPBLc.8073T>G (p.Asn2691Lys)
c.*17T>G (n.*17T>G)
n.1996T>G
c.1-28T>G (n.1-28T>G)
c.*527T>G (n.*527T>G)
c.7329T>G (p.Asn2443Lys)
c.7926T>G (p.Asn2642Lys)
c.7875T>G (p.Asn2625Lys)
c.7692T>G (p.Asn2564Lys)
c.7413T>G (p.Asn2471Lys)
c.6456T>G (p.Asn2152Lys)
c.6447T>G (p.Asn2149Lys)
n.12132A>C
5g.37064551T>ACA359521845CPLANE1,NIPBLc.8074T>A (p.Ser2692Thr)
c.*18T>A (n.*18T>A)
n.1997T>A
c.1-27T>A (n.1-27T>A)
c.*528T>A (n.*528T>A)
c.7330T>A (p.Ser2444Thr)
c.7927T>A (p.Ser2643Thr)
c.7876T>A (p.Ser2626Thr)
c.7693T>A (p.Ser2565Thr)
c.7414T>A (p.Ser2472Thr)
c.6457T>A (p.Ser2153Thr)
c.6448T>A (p.Ser2150Thr)
n.12131A>T
5g.37064551T>CCA359521847CPLANE1,NIPBLc.8074T>C (p.Ser2692Pro)
c.*18T>C (n.*18T>C)
n.1997T>C
c.1-27T>C (n.1-27T>C)
c.*528T>C (n.*528T>C)
c.7330T>C (p.Ser2444Pro)
c.7927T>C (p.Ser2643Pro)
c.7876T>C (p.Ser2626Pro)
c.7693T>C (p.Ser2565Pro)
c.7414T>C (p.Ser2472Pro)
c.6457T>C (p.Ser2153Pro)
c.6448T>C (p.Ser2150Pro)
n.12131A>G
5g.37064551T>GCA359521850CPLANE1,NIPBLc.8074T>G (p.Ser2692Ala)
c.*18T>G (n.*18T>G)
n.1997T>G
c.1-27T>G (n.1-27T>G)
c.*528T>G (n.*528T>G)
c.7330T>G (p.Ser2444Ala)
c.7927T>G (p.Ser2643Ala)
c.7876T>G (p.Ser2626Ala)
c.7693T>G (p.Ser2565Ala)
c.7414T>G (p.Ser2472Ala)
c.6457T>G (p.Ser2153Ala)
c.6448T>G (p.Ser2150Ala)
n.12131A>C
5g.37064552C>ACA359521859CPLANE1,NIPBLc.8075C>A (p.Ser2692Ter)
c.*19C>A (n.*19C>A)
n.1998C>A
c.1-26C>A (n.1-26C>A)
c.*529C>A (n.*529C>A)
c.7331C>A (p.Ser2444Ter)
c.7928C>A (p.Ser2643Ter)
c.7877C>A (p.Ser2626Ter)
c.7694C>A (p.Ser2565Ter)
c.7415C>A (p.Ser2472Ter)
c.6458C>A (p.Ser2153Ter)
c.6449C>A (p.Ser2150Ter)
n.12130G>T
 gnomAD v4
5g.37064552C>GCA359521861CPLANE1,NIPBLc.8075C>G (p.Ser2692Ter)
c.*19C>G (n.*19C>G)
n.1998C>G
c.1-26C>G (n.1-26C>G)
c.*529C>G (n.*529C>G)
c.7331C>G (p.Ser2444Ter)
c.7928C>G (p.Ser2643Ter)
c.7877C>G (p.Ser2626Ter)
c.7694C>G (p.Ser2565Ter)
c.7415C>G (p.Ser2472Ter)
c.6458C>G (p.Ser2153Ter)
c.6449C>G (p.Ser2150Ter)
n.12130G>C
5g.37064552C>TCA359521863CPLANE1,NIPBLc.8075C>T (p.Ser2692Leu)
c.*19C>T (n.*19C>T)
n.1998C>T
c.1-26C>T (n.1-26C>T)
c.*529C>T (n.*529C>T)
c.7331C>T (p.Ser2444Leu)
c.7928C>T (p.Ser2643Leu)
c.7877C>T (p.Ser2626Leu)
c.7694C>T (p.Ser2565Leu)
c.7415C>T (p.Ser2472Leu)
c.6458C>T (p.Ser2153Leu)
c.6449C>T (p.Ser2150Leu)
n.12130G>A
5g.37064553A>CCA443916398CPLANE1,NIPBLc.8076A>C (p.Ser2692=)
c.*20A>C (n.*20A>C)
n.1999A>C
c.1-25A>C (n.1-25A>C)
c.*530A>C (n.*530A>C)
c.7332A>C (p.Ser2444=)
c.7929A>C (p.Ser2643=)
c.7878A>C (p.Ser2626=)
c.7695A>C (p.Ser2565=)
c.7416A>C (p.Ser2472=)
c.6459A>C (p.Ser2153=)
c.6450A>C (p.Ser2150=)
n.12129T>G
5g.37064553A>GCA443916399CPLANE1,NIPBLc.8076A>G (p.Ser2692=)
c.*20A>G (n.*20A>G)
n.1999A>G
c.1-25A>G (n.1-25A>G)
c.*530A>G (n.*530A>G)
c.7332A>G (p.Ser2444=)
c.7929A>G (p.Ser2643=)
c.7878A>G (p.Ser2626=)
c.7695A>G (p.Ser2565=)
c.7416A>G (p.Ser2472=)
c.6459A>G (p.Ser2153=)
c.6450A>G (p.Ser2150=)
n.12129T>C
5g.37064553A>TCA443916400CPLANE1,NIPBLc.8076A>T (p.Ser2692=)
c.*20A>T (n.*20A>T)
n.1999A>T
c.1-25A>T (n.1-25A>T)
c.*530A>T (n.*530A>T)
c.7332A>T (p.Ser2444=)
c.7929A>T (p.Ser2643=)
c.7878A>T (p.Ser2626=)
c.7695A>T (p.Ser2565=)
c.7416A>T (p.Ser2472=)
c.6459A>T (p.Ser2153=)
c.6450A>T (p.Ser2150=)
n.12129T>A
5g.37064554G>ACA359521867CPLANE1,NIPBLc.8077G>A (p.Asp2693Asn)
c.*21G>A (n.*21G>A)
n.2000G>A
c.1-24G>A (n.1-24G>A)
c.*531G>A (n.*531G>A)
c.7333G>A (p.Asp2445Asn)
c.7930G>A (p.Asp2644Asn)
c.7879G>A (p.Asp2627Asn)
c.7696G>A (p.Asp2566Asn)
c.7417G>A (p.Asp2473Asn)
c.6460G>A (p.Asp2154Asn)
c.6451G>A (p.Asp2151Asn)
n.12128C>T
 dbSNP
5g.37064554G>CCA359521869CPLANE1,NIPBLc.8077G>C (p.Asp2693His)
c.*21G>C (n.*21G>C)
n.2000G>C
c.1-24G>C (n.1-24G>C)
c.*531G>C (n.*531G>C)
c.7333G>C (p.Asp2445His)
c.7930G>C (p.Asp2644His)
c.7879G>C (p.Asp2627His)
c.7696G>C (p.Asp2566His)
c.7417G>C (p.Asp2473His)
c.6460G>C (p.Asp2154His)
c.6451G>C (p.Asp2151His)
n.12128C>G
 gnomAD v4
5g.37064554G=CA1539590145CPLANE1,NIPBLc.8077G= (p.Asp2693=)
c.*21G= (n.*21G=)
n.2000G=
c.1-24G= (n.1-24G=)
c.*531G= (n.*531G=)
c.7333G= (p.Asp2445=)
c.7930G= (p.Asp2644=)
c.7879G= (p.Asp2627=)
c.7696G= (p.Asp2566=)
c.7417G= (p.Asp2473=)
c.6460G= (p.Asp2154=)
c.6451G= (p.Asp2151=)
n.12128C=
5g.37064554G>TCA359521876CPLANE1,NIPBLc.8077G>T (p.Asp2693Tyr)
c.*21G>T (n.*21G>T)
n.2000G>T
c.1-24G>T (n.1-24G>T)
c.*531G>T (n.*531G>T)
c.7333G>T (p.Asp2445Tyr)
c.7930G>T (p.Asp2644Tyr)
c.7879G>T (p.Asp2627Tyr)
c.7696G>T (p.Asp2566Tyr)
c.7417G>T (p.Asp2473Tyr)
c.6460G>T (p.Asp2154Tyr)
c.6451G>T (p.Asp2151Tyr)
n.12128C>A
5g.37064555A>CCA359521878CPLANE1,NIPBLc.8078A>C (p.Asp2693Ala)
c.*22A>C (n.*22A>C)
n.2001A>C
c.1-23A>C (n.1-23A>C)
c.*532A>C (n.*532A>C)
c.7334A>C (p.Asp2445Ala)
c.7931A>C (p.Asp2644Ala)
c.7880A>C (p.Asp2627Ala)
c.7697A>C (p.Asp2566Ala)
c.7418A>C (p.Asp2473Ala)
c.6461A>C (p.Asp2154Ala)
c.6452A>C (p.Asp2151Ala)
n.12127T>G
5g.37064555A>GCA359521881CPLANE1,NIPBLc.8078A>G (p.Asp2693Gly)
c.*22A>G (n.*22A>G)
n.2001A>G
c.1-23A>G (n.1-23A>G)
c.*532A>G (n.*532A>G)
c.7334A>G (p.Asp2445Gly)
c.7931A>G (p.Asp2644Gly)
c.7880A>G (p.Asp2627Gly)
c.7697A>G (p.Asp2566Gly)
c.7418A>G (p.Asp2473Gly)
c.6461A>G (p.Asp2154Gly)
c.6452A>G (p.Asp2151Gly)
n.12127T>C
5g.37064555A>TCA359521880CPLANE1,NIPBLc.8078A>T (p.Asp2693Val)
c.*22A>T (n.*22A>T)
n.2001A>T
c.1-23A>T (n.1-23A>T)
c.*532A>T (n.*532A>T)
c.7334A>T (p.Asp2445Val)
c.7931A>T (p.Asp2644Val)
c.7880A>T (p.Asp2627Val)
c.7697A>T (p.Asp2566Val)
c.7418A>T (p.Asp2473Val)
c.6461A>T (p.Asp2154Val)
c.6452A>T (p.Asp2151Val)
n.12127T>A
5g.37064556C>ACA359521883CPLANE1,NIPBLc.8079C>A (p.Asp2693Glu)
c.*23C>A (n.*23C>A)
n.2002C>A
c.1-22C>A (n.1-22C>A)
c.*533C>A (n.*533C>A)
c.7335C>A (p.Asp2445Glu)
c.7932C>A (p.Asp2644Glu)
c.7881C>A (p.Asp2627Glu)
c.7698C>A (p.Asp2566Glu)
c.7419C>A (p.Asp2473Glu)
c.6462C>A (p.Asp2154Glu)
c.6453C>A (p.Asp2151Glu)
n.12126G>T
5g.37064556C>GCA359521887CPLANE1,NIPBLc.8079C>G (p.Asp2693Glu)
c.*23C>G (n.*23C>G)
n.2002C>G
c.1-22C>G (n.1-22C>G)
c.*533C>G (n.*533C>G)
c.7335C>G (p.Asp2445Glu)
c.7932C>G (p.Asp2644Glu)
c.7881C>G (p.Asp2627Glu)
c.7698C>G (p.Asp2566Glu)
c.7419C>G (p.Asp2473Glu)
c.6462C>G (p.Asp2154Glu)
c.6453C>G (p.Asp2151Glu)
n.12126G>C
5g.37064556C>TCA443916401CPLANE1,NIPBLc.8079C>T (p.Asp2693=)
c.*23C>T (n.*23C>T)
n.2002C>T
c.1-22C>T (n.1-22C>T)
c.*533C>T (n.*533C>T)
c.7335C>T (p.Asp2445=)
c.7932C>T (p.Asp2644=)
c.7881C>T (p.Asp2627=)
c.7698C>T (p.Asp2566=)
c.7419C>T (p.Asp2473=)
c.6462C>T (p.Asp2154=)
c.6453C>T (p.Asp2151=)
n.12126G>A
5g.37064557T>ACA359521890CPLANE1,NIPBLc.8080T>A (p.Ser2694Thr)
c.*24T>A (n.*24T>A)
n.2003T>A
c.1-21T>A (n.1-21T>A)
c.*534T>A (n.*534T>A)
c.7336T>A (p.Ser2446Thr)
c.7933T>A (p.Ser2645Thr)
c.7882T>A (p.Ser2628Thr)
c.7699T>A (p.Ser2567Thr)
c.7420T>A (p.Ser2474Thr)
c.6463T>A (p.Ser2155Thr)
c.6454T>A (p.Ser2152Thr)
n.12125A>T
5g.37064557T>CCA359521893CPLANE1,NIPBLc.8080T>C (p.Ser2694Pro)
c.*24T>C (n.*24T>C)
n.2003T>C
c.1-21T>C (n.1-21T>C)
c.*534T>C (n.*534T>C)
c.7336T>C (p.Ser2446Pro)
c.7933T>C (p.Ser2645Pro)
c.7882T>C (p.Ser2628Pro)
c.7699T>C (p.Ser2567Pro)
c.7420T>C (p.Ser2474Pro)
c.6463T>C (p.Ser2155Pro)
c.6454T>C (p.Ser2152Pro)
n.12125A>G
5g.37064557T>GCA359521892CPLANE1,NIPBLc.8080T>G (p.Ser2694Ala)
c.*24T>G (n.*24T>G)
n.2003T>G
c.1-21T>G (n.1-21T>G)
c.*534T>G (n.*534T>G)
c.7336T>G (p.Ser2446Ala)
c.7933T>G (p.Ser2645Ala)
c.7882T>G (p.Ser2628Ala)
c.7699T>G (p.Ser2567Ala)
c.7420T>G (p.Ser2474Ala)
c.6463T>G (p.Ser2155Ala)
c.6454T>G (p.Ser2152Ala)
n.12125A>C
5g.37064558C>ACA359521896CPLANE1,NIPBLc.8081C>A (p.Ser2694Tyr)
c.*25C>A (n.*25C>A)
n.2004C>A
c.1-20C>A (n.1-20C>A)
c.*535C>A (n.*535C>A)
c.7337C>A (p.Ser2446Tyr)
c.7934C>A (p.Ser2645Tyr)
c.7883C>A (p.Ser2628Tyr)
c.7700C>A (p.Ser2567Tyr)
c.7421C>A (p.Ser2474Tyr)
c.6464C>A (p.Ser2155Tyr)
c.6455C>A (p.Ser2152Tyr)
n.12124G>T
5g.37064558C>GCA359521905CPLANE1,NIPBLc.8081C>G (p.Ser2694Cys)
c.*25C>G (n.*25C>G)
n.2004C>G
c.1-20C>G (n.1-20C>G)
c.*535C>G (n.*535C>G)
c.7337C>G (p.Ser2446Cys)
c.7934C>G (p.Ser2645Cys)
c.7883C>G (p.Ser2628Cys)
c.7700C>G (p.Ser2567Cys)
c.7421C>G (p.Ser2474Cys)
c.6464C>G (p.Ser2155Cys)
c.6455C>G (p.Ser2152Cys)
n.12124G>C
5g.37064558C>TCA359521907CPLANE1,NIPBLc.8081C>T (p.Ser2694Phe)
c.*25C>T (n.*25C>T)
n.2004C>T
c.1-20C>T (n.1-20C>T)
c.*535C>T (n.*535C>T)
c.7337C>T (p.Ser2446Phe)
c.7934C>T (p.Ser2645Phe)
c.7883C>T (p.Ser2628Phe)
c.7700C>T (p.Ser2567Phe)
c.7421C>T (p.Ser2474Phe)
c.6464C>T (p.Ser2155Phe)
c.6455C>T (p.Ser2152Phe)
n.12124G>A
5g.37064559T>ACA443916402CPLANE1,NIPBLc.8082T>A (p.Ser2694=)
c.*26T>A (n.*26T>A)
n.2005T>A
c.1-19T>A (n.1-19T>A)
c.*536T>A (n.*536T>A)
c.7338T>A (p.Ser2446=)
c.7935T>A (p.Ser2645=)
c.7884T>A (p.Ser2628=)
c.7701T>A (p.Ser2567=)
c.7422T>A (p.Ser2474=)
c.6465T>A (p.Ser2155=)
c.6456T>A (p.Ser2152=)
n.12123A>T
5g.37064559T>CCA443916403CPLANE1,NIPBLc.8082T>C (p.Ser2694=)
c.*26T>C (n.*26T>C)
n.2005T>C
c.1-19T>C (n.1-19T>C)
c.*536T>C (n.*536T>C)
c.7338T>C (p.Ser2446=)
c.7935T>C (p.Ser2645=)
c.7884T>C (p.Ser2628=)
c.7701T>C (p.Ser2567=)
c.7422T>C (p.Ser2474=)
c.6465T>C (p.Ser2155=)
c.6456T>C (p.Ser2152=)
n.12123A>G
5g.37064559T>GCA443916404CPLANE1,NIPBLc.8082T>G (p.Ser2694=)
c.*26T>G (n.*26T>G)
n.2005T>G
c.1-19T>G (n.1-19T>G)
c.*536T>G (n.*536T>G)
c.7338T>G (p.Ser2446=)
c.7935T>G (p.Ser2645=)
c.7884T>G (p.Ser2628=)
c.7701T>G (p.Ser2567=)
c.7422T>G (p.Ser2474=)
c.6465T>G (p.Ser2155=)
c.6456T>G (p.Ser2152=)
n.12123A>C
5g.37064560A=CA1539590151CPLANE1,NIPBLc.8083A= (p.Thr2695=)
c.*27A= (n.*27A=)
n.2006A=
c.1-18A= (n.1-18A=)
c.*537A= (n.*537A=)
c.7339A= (p.Thr2447=)
c.7936A= (p.Thr2646=)
c.7885A= (p.Thr2629=)
c.7702A= (p.Thr2568=)
c.7423A= (p.Thr2475=)
c.6466A= (p.Thr2156=)
c.6457A= (p.Thr2153=)
n.12122T=
5g.37064560A>CCA359521912CPLANE1,NIPBLc.8083A>C (p.Thr2695Pro)
c.*27A>C (n.*27A>C)
n.2006A>C
c.1-18A>C (n.1-18A>C)
c.*537A>C (n.*537A>C)
c.7339A>C (p.Thr2447Pro)
c.7936A>C (p.Thr2646Pro)
c.7885A>C (p.Thr2629Pro)
c.7702A>C (p.Thr2568Pro)
c.7423A>C (p.Thr2475Pro)
c.6466A>C (p.Thr2156Pro)
c.6457A>C (p.Thr2153Pro)
n.12122T>G
5g.37064560A>GCA359521916CPLANE1,NIPBLc.8083A>G (p.Thr2695Ala)
c.*27A>G (n.*27A>G)
n.2006A>G
c.1-18A>G (n.1-18A>G)
c.*537A>G (n.*537A>G)
c.7339A>G (p.Thr2447Ala)
c.7936A>G (p.Thr2646Ala)
c.7885A>G (p.Thr2629Ala)
c.7702A>G (p.Thr2568Ala)
c.7423A>G (p.Thr2475Ala)
c.6466A>G (p.Thr2156Ala)
c.6457A>G (p.Thr2153Ala)
n.12122T>C
 dbSNP gnomAD v4
5g.37064560A>TCA359521924CPLANE1,NIPBLc.8083A>T (p.Thr2695Ser)
c.*27A>T (n.*27A>T)
n.2006A>T
c.1-18A>T (n.1-18A>T)
c.*537A>T (n.*537A>T)
c.7339A>T (p.Thr2447Ser)
c.7936A>T (p.Thr2646Ser)
c.7885A>T (p.Thr2629Ser)
c.7702A>T (p.Thr2568Ser)
c.7423A>T (p.Thr2475Ser)
c.6466A>T (p.Thr2156Ser)
c.6457A>T (p.Thr2153Ser)
n.12122T>A
5g.37064561C>ACA359521928CPLANE1,NIPBLc.8084C>A (p.Thr2695Lys)
c.*28C>A (n.*28C>A)
n.2007C>A
c.1-17C>A (n.1-17C>A)
c.*538C>A (n.*538C>A)
c.7340C>A (p.Thr2447Lys)
c.7937C>A (p.Thr2646Lys)
c.7886C>A (p.Thr2629Lys)
c.7703C>A (p.Thr2568Lys)
c.7424C>A (p.Thr2475Lys)
c.6467C>A (p.Thr2156Lys)
c.6458C>A (p.Thr2153Lys)
n.12121G>T
5g.37064561C=CA1539590155CPLANE1,NIPBLc.8084C= (p.Thr2695=)
c.*28C= (n.*28C=)
n.2007C=
c.1-17C= (n.1-17C=)
c.*538C= (n.*538C=)
c.7340C= (p.Thr2447=)
c.7937C= (p.Thr2646=)
c.7886C= (p.Thr2629=)
c.7703C= (p.Thr2568=)
c.7424C= (p.Thr2475=)
c.6467C= (p.Thr2156=)
c.6458C= (p.Thr2153=)
n.12121G=
5g.37064561C>GCA359521930CPLANE1,NIPBLc.8084C>G (p.Thr2695Arg)
c.*28C>G (n.*28C>G)
n.2007C>G
c.1-17C>G (n.1-17C>G)
c.*538C>G (n.*538C>G)
c.7340C>G (p.Thr2447Arg)
c.7937C>G (p.Thr2646Arg)
c.7886C>G (p.Thr2629Arg)
c.7703C>G (p.Thr2568Arg)
c.7424C>G (p.Thr2475Arg)
c.6467C>G (p.Thr2156Arg)
c.6458C>G (p.Thr2153Arg)
n.12121G>C
5g.37064561C>TCA3237335CPLANE1,NIPBLc.8084C>T (p.Thr2695Met)
c.*28C>T (n.*28C>T)
n.2007C>T
c.1-17C>T (n.1-17C>T)
c.*538C>T (n.*538C>T)
c.7340C>T (p.Thr2447Met)
c.7937C>T (p.Thr2646Met)
c.7886C>T (p.Thr2629Met)
c.7703C>T (p.Thr2568Met)
c.7424C>T (p.Thr2475Met)
c.6467C>T (p.Thr2156Met)
c.6458C>T (p.Thr2153Met)
n.12121G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064562G>ACA3237336CPLANE1,NIPBLc.8085G>A (p.Thr2695=)
c.*29G>A (n.*29G>A)
n.2008G>A
c.1-16G>A (n.1-16G>A)
c.*539G>A (n.*539G>A)
c.7341G>A (p.Thr2447=)
c.7938G>A (p.Thr2646=)
c.7887G>A (p.Thr2629=)
c.7704G>A (p.Thr2568=)
c.7425G>A (p.Thr2475=)
c.6468G>A (p.Thr2156=)
c.6459G>A (p.Thr2153=)
n.12120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064562G>CCA443916405CPLANE1,NIPBLc.8085G>C (p.Thr2695=)
c.*29G>C (n.*29G>C)
n.2008G>C
c.1-16G>C (n.1-16G>C)
c.*539G>C (n.*539G>C)
c.7341G>C (p.Thr2447=)
c.7938G>C (p.Thr2646=)
c.7887G>C (p.Thr2629=)
c.7704G>C (p.Thr2568=)
c.7425G>C (p.Thr2475=)
c.6468G>C (p.Thr2156=)
c.6459G>C (p.Thr2153=)
n.12120C>G
5g.37064562G=CA1539590162CPLANE1,NIPBLc.8085G= (p.Thr2695=)
c.*29G= (n.*29G=)
n.2008G=
c.1-16G= (n.1-16G=)
c.*539G= (n.*539G=)
c.7341G= (p.Thr2447=)
c.7938G= (p.Thr2646=)
c.7887G= (p.Thr2629=)
c.7704G= (p.Thr2568=)
c.7425G= (p.Thr2475=)
c.6468G= (p.Thr2156=)
c.6459G= (p.Thr2153=)
n.12120C=
5g.37064562G>TCA443916406CPLANE1,NIPBLc.8085G>T (p.Thr2695=)
c.*29G>T (n.*29G>T)
n.2008G>T
c.1-16G>T (n.1-16G>T)
c.*539G>T (n.*539G>T)
c.7341G>T (p.Thr2447=)
c.7938G>T (p.Thr2646=)
c.7887G>T (p.Thr2629=)
c.7704G>T (p.Thr2568=)
c.7425G>T (p.Thr2475=)
c.6468G>T (p.Thr2156=)
c.6459G>T (p.Thr2153=)
n.12120C>A
 dbSNP
5g.37064563delCA2673577295CPLANE1,NIPBLc.8086del (p.Glu2696SerfsTer6)
c.*30del (n.*30del)
n.2009del
c.1-15del (n.1-15del)
c.*540del (n.*540del)
c.7342del (p.Glu2448SerfsTer6)
c.7939del (p.Glu2647SerfsTer6)
c.7888del (p.Glu2630SerfsTer6)
c.7705del (p.Glu2569SerfsTer6)
c.7426del (p.Glu2476SerfsTer6)
c.6469del (p.Glu2157SerfsTer6)
c.6460del (p.Glu2154SerfsTer6)
n.12120del
 gnomAD v4
5g.37064563G>ACA359521937CPLANE1,NIPBLc.8086G>A (p.Glu2696Lys)
c.*30G>A (n.*30G>A)
n.2009G>A
c.1-15G>A (n.1-15G>A)
c.*540G>A (n.*540G>A)
c.7342G>A (p.Glu2448Lys)
c.7939G>A (p.Glu2647Lys)
c.7888G>A (p.Glu2630Lys)
c.7705G>A (p.Glu2569Lys)
c.7426G>A (p.Glu2476Lys)
c.6469G>A (p.Glu2157Lys)
c.6460G>A (p.Glu2154Lys)
n.12119C>T
 ClinVar
5g.37064563G>CCA359521943CPLANE1,NIPBLc.8086G>C (p.Glu2696Gln)
c.*30G>C (n.*30G>C)
n.2009G>C
c.1-15G>C (n.1-15G>C)
c.*540G>C (n.*540G>C)
c.7342G>C (p.Glu2448Gln)
c.7939G>C (p.Glu2647Gln)
c.7888G>C (p.Glu2630Gln)
c.7705G>C (p.Glu2569Gln)
c.7426G>C (p.Glu2476Gln)
c.6469G>C (p.Glu2157Gln)
c.6460G>C (p.Glu2154Gln)
n.12119C>G
5g.37064563G>TCA359521945CPLANE1,NIPBLc.8086G>T (p.Glu2696Ter)
c.*30G>T (n.*30G>T)
n.2009G>T
c.1-15G>T (n.1-15G>T)
c.*540G>T (n.*540G>T)
c.7342G>T (p.Glu2448Ter)
c.7939G>T (p.Glu2647Ter)
c.7888G>T (p.Glu2630Ter)
c.7705G>T (p.Glu2569Ter)
c.7426G>T (p.Glu2476Ter)
c.6469G>T (p.Glu2157Ter)
c.6460G>T (p.Glu2154Ter)
n.12119C>A
5g.37064564A>CCA359521948CPLANE1,NIPBLc.8087A>C (p.Glu2696Ala)
c.*31A>C (n.*31A>C)
n.2010A>C
c.1-14A>C (n.1-14A>C)
c.*541A>C (n.*541A>C)
c.7343A>C (p.Glu2448Ala)
c.7940A>C (p.Glu2647Ala)
c.7889A>C (p.Glu2630Ala)
c.7706A>C (p.Glu2569Ala)
c.7427A>C (p.Glu2476Ala)
c.6470A>C (p.Glu2157Ala)
c.6461A>C (p.Glu2154Ala)
n.12118T>G
5g.37064564A>GCA359521954CPLANE1,NIPBLc.8087A>G (p.Glu2696Gly)
c.*31A>G (n.*31A>G)
n.2010A>G
c.1-14A>G (n.1-14A>G)
c.*541A>G (n.*541A>G)
c.7343A>G (p.Glu2448Gly)
c.7940A>G (p.Glu2647Gly)
c.7889A>G (p.Glu2630Gly)
c.7706A>G (p.Glu2569Gly)
c.7427A>G (p.Glu2476Gly)
c.6470A>G (p.Glu2157Gly)
c.6461A>G (p.Glu2154Gly)
n.12118T>C
5g.37064564A>TCA359521950CPLANE1,NIPBLc.8087A>T (p.Glu2696Val)
c.*31A>T (n.*31A>T)
n.2010A>T
c.1-14A>T (n.1-14A>T)
c.*541A>T (n.*541A>T)
c.7343A>T (p.Glu2448Val)
c.7940A>T (p.Glu2647Val)
c.7889A>T (p.Glu2630Val)
c.7706A>T (p.Glu2569Val)
c.7427A>T (p.Glu2476Val)
c.6470A>T (p.Glu2157Val)
c.6461A>T (p.Glu2154Val)
n.12118T>A
5g.37064565G>ACA443916407CPLANE1,NIPBLc.8088G>A (p.Glu2696=)
c.*32G>A (n.*32G>A)
n.2011G>A
c.1-13G>A (n.1-13G>A)
c.*542G>A (n.*542G>A)
c.7344G>A (p.Glu2448=)
c.7941G>A (p.Glu2647=)
c.7890G>A (p.Glu2630=)
c.7707G>A (p.Glu2569=)
c.7428G>A (p.Glu2476=)
c.6471G>A (p.Glu2157=)
c.6462G>A (p.Glu2154=)
n.12117C>T
 gnomAD v4
5g.37064565G>CCA359521956CPLANE1,NIPBLc.8088G>C (p.Glu2696Asp)
c.*32G>C (n.*32G>C)
n.2011G>C
c.1-13G>C (n.1-13G>C)
c.*542G>C (n.*542G>C)
c.7344G>C (p.Glu2448Asp)
c.7941G>C (p.Glu2647Asp)
c.7890G>C (p.Glu2630Asp)
c.7707G>C (p.Glu2569Asp)
c.7428G>C (p.Glu2476Asp)
c.6471G>C (p.Glu2157Asp)
c.6462G>C (p.Glu2154Asp)
n.12117C>G
5g.37064565G>TCA359521960CPLANE1,NIPBLc.8088G>T (p.Glu2696Asp)
c.*32G>T (n.*32G>T)
n.2011G>T
c.1-13G>T (n.1-13G>T)
c.*542G>T (n.*542G>T)
c.7344G>T (p.Glu2448Asp)
c.7941G>T (p.Glu2647Asp)
c.7890G>T (p.Glu2630Asp)
c.7707G>T (p.Glu2569Asp)
c.7428G>T (p.Glu2476Asp)
c.6471G>T (p.Glu2157Asp)
c.6462G>T (p.Glu2154Asp)
n.12117C>A
5g.37064566T>ACA359521968CPLANE1,NIPBLc.8089T>A (p.Leu2697Met)
c.*33T>A (n.*33T>A)
n.2012T>A
c.1-12T>A (n.1-12T>A)
c.*543T>A (n.*543T>A)
c.7345T>A (p.Leu2449Met)
c.7942T>A (p.Leu2648Met)
c.7891T>A (p.Leu2631Met)
c.7708T>A (p.Leu2570Met)
c.7429T>A (p.Leu2477Met)
c.6472T>A (p.Leu2158Met)
c.6463T>A (p.Leu2155Met)
n.12116A>T
5g.37064566T>CCA443916408CPLANE1,NIPBLc.8089T>C (p.Leu2697=)
c.*33T>C (n.*33T>C)
n.2012T>C
c.1-12T>C (n.1-12T>C)
c.*543T>C (n.*543T>C)
c.7345T>C (p.Leu2449=)
c.7942T>C (p.Leu2648=)
c.7891T>C (p.Leu2631=)
c.7708T>C (p.Leu2570=)
c.7429T>C (p.Leu2477=)
c.6472T>C (p.Leu2158=)
c.6463T>C (p.Leu2155=)
n.12116A>G
 gnomAD v4
5g.37064566T>GCA359521970CPLANE1,NIPBLc.8089T>G (p.Leu2697Val)
c.*33T>G (n.*33T>G)
n.2012T>G
c.1-12T>G (n.1-12T>G)
c.*543T>G (n.*543T>G)
c.7345T>G (p.Leu2449Val)
c.7942T>G (p.Leu2648Val)
c.7891T>G (p.Leu2631Val)
c.7708T>G (p.Leu2570Val)
c.7429T>G (p.Leu2477Val)
c.6472T>G (p.Leu2158Val)
c.6463T>G (p.Leu2155Val)
n.12116A>C
5g.37064567T>ACA359521974CPLANE1,NIPBLc.8090T>A (p.Leu2697Ter)
c.*34T>A (n.*34T>A)
n.2013T>A
c.1-11T>A (n.1-11T>A)
c.*544T>A (n.*544T>A)
c.7346T>A (p.Leu2449Ter)
c.7943T>A (p.Leu2648Ter)
c.7892T>A (p.Leu2631Ter)
c.7709T>A (p.Leu2570Ter)
c.7430T>A (p.Leu2477Ter)
c.6473T>A (p.Leu2158Ter)
c.6464T>A (p.Leu2155Ter)
n.12115A>T
5g.37064567T>CCA359521977CPLANE1,NIPBLc.8090T>C (p.Leu2697Ser)
c.*34T>C (n.*34T>C)
n.2013T>C
c.1-11T>C (n.1-11T>C)
c.*544T>C (n.*544T>C)
c.7346T>C (p.Leu2449Ser)
c.7943T>C (p.Leu2648Ser)
c.7892T>C (p.Leu2631Ser)
c.7709T>C (p.Leu2570Ser)
c.7430T>C (p.Leu2477Ser)
c.6473T>C (p.Leu2158Ser)
c.6464T>C (p.Leu2155Ser)
n.12115A>G
5g.37064567T>GCA359521982CPLANE1,NIPBLc.8090T>G (p.Leu2697Trp)
c.*34T>G (n.*34T>G)
n.2013T>G
c.1-11T>G (n.1-11T>G)
c.*544T>G (n.*544T>G)
c.7346T>G (p.Leu2449Trp)
c.7943T>G (p.Leu2648Trp)
c.7892T>G (p.Leu2631Trp)
c.7709T>G (p.Leu2570Trp)
c.7430T>G (p.Leu2477Trp)
c.6473T>G (p.Leu2158Trp)
c.6464T>G (p.Leu2155Trp)
n.12115A>C
5g.37064568G>ACA443916409CPLANE1,NIPBLc.8091G>A (p.Leu2697=)
c.*35G>A (n.*35G>A)
n.2014G>A
c.1-10G>A (n.1-10G>A)
c.*545G>A (n.*545G>A)
c.7347G>A (p.Leu2449=)
c.7944G>A (p.Leu2648=)
c.7893G>A (p.Leu2631=)
c.7710G>A (p.Leu2570=)
c.7431G>A (p.Leu2477=)
c.6474G>A (p.Leu2158=)
c.6465G>A (p.Leu2155=)
n.12114C>T
 dbSNP gnomAD v3 gnomAD v4
5g.37064568G>CCA359521985CPLANE1,NIPBLc.8091G>C (p.Leu2697Phe)
c.*35G>C (n.*35G>C)
n.2014G>C
c.1-10G>C (n.1-10G>C)
c.*545G>C (n.*545G>C)
c.7347G>C (p.Leu2449Phe)
c.7944G>C (p.Leu2648Phe)
c.7893G>C (p.Leu2631Phe)
c.7710G>C (p.Leu2570Phe)
c.7431G>C (p.Leu2477Phe)
c.6474G>C (p.Leu2158Phe)
c.6465G>C (p.Leu2155Phe)
n.12114C>G
5g.37064568G=CA1539590170CPLANE1,NIPBLc.8091G= (p.Leu2697=)
c.*35G= (n.*35G=)
n.2014G=
c.1-10G= (n.1-10G=)
c.*545G= (n.*545G=)
c.7347G= (p.Leu2449=)
c.7944G= (p.Leu2648=)
c.7893G= (p.Leu2631=)
c.7710G= (p.Leu2570=)
c.7431G= (p.Leu2477=)
c.6474G= (p.Leu2158=)
c.6465G= (p.Leu2155=)
n.12114C=
5g.37064568G>TCA359521986CPLANE1,NIPBLc.8091G>T (p.Leu2697Phe)
c.*35G>T (n.*35G>T)
n.2014G>T
c.1-10G>T (n.1-10G>T)
c.*545G>T (n.*545G>T)
c.7347G>T (p.Leu2449Phe)
c.7944G>T (p.Leu2648Phe)
c.7893G>T (p.Leu2631Phe)
c.7710G>T (p.Leu2570Phe)
c.7431G>T (p.Leu2477Phe)
c.6474G>T (p.Leu2158Phe)
c.6465G>T (p.Leu2155Phe)
n.12114C>A
5g.37064569G>ACA359521989CPLANE1,NIPBLc.8092G>A (p.Ala2698Thr)
c.*36G>A (n.*36G>A)
n.2015G>A
c.1-9G>A (n.1-9G>A)
c.*546G>A (n.*546G>A)
c.7348G>A (p.Ala2450Thr)
c.7945G>A (p.Ala2649Thr)
c.7894G>A (p.Ala2632Thr)
c.7711G>A (p.Ala2571Thr)
c.7432G>A (p.Ala2478Thr)
c.6475G>A (p.Ala2159Thr)
c.6466G>A (p.Ala2156Thr)
n.12113C>T
 dbSNP gnomAD v2 gnomAD v4
5g.37064569G>CCA359521988CPLANE1,NIPBLc.8092G>C (p.Ala2698Pro)
c.*36G>C (n.*36G>C)
n.2015G>C
c.1-9G>C (n.1-9G>C)
c.*546G>C (n.*546G>C)
c.7348G>C (p.Ala2450Pro)
c.7945G>C (p.Ala2649Pro)
c.7894G>C (p.Ala2632Pro)
c.7711G>C (p.Ala2571Pro)
c.7432G>C (p.Ala2478Pro)
c.6475G>C (p.Ala2159Pro)
c.6466G>C (p.Ala2156Pro)
n.12113C>G
5g.37064569G=CA1539590175CPLANE1,NIPBLc.8092G= (p.Ala2698=)
c.*36G= (n.*36G=)
n.2015G=
c.1-9G= (n.1-9G=)
c.*546G= (n.*546G=)
c.7348G= (p.Ala2450=)
c.7945G= (p.Ala2649=)
c.7894G= (p.Ala2632=)
c.7711G= (p.Ala2571=)
c.7432G= (p.Ala2478=)
c.6475G= (p.Ala2159=)
c.6466G= (p.Ala2156=)
n.12113C=
5g.37064569G>TCA359521987CPLANE1,NIPBLc.8092G>T (p.Ala2698Ser)
c.*36G>T (n.*36G>T)
n.2015G>T
c.1-9G>T (n.1-9G>T)
c.*546G>T (n.*546G>T)
c.7348G>T (p.Ala2450Ser)
c.7945G>T (p.Ala2649Ser)
c.7894G>T (p.Ala2632Ser)
c.7711G>T (p.Ala2571Ser)
c.7432G>T (p.Ala2478Ser)
c.6475G>T (p.Ala2159Ser)
c.6466G>T (p.Ala2156Ser)
n.12113C>A
5g.37064570C>ACA359521990CPLANE1,NIPBLc.8093C>A (p.Ala2698Glu)
c.*37C>A (n.*37C>A)
n.2016C>A
c.1-8C>A (n.1-8C>A)
c.*547C>A (n.*547C>A)
c.7349C>A (p.Ala2450Glu)
c.7946C>A (p.Ala2649Glu)
c.7895C>A (p.Ala2632Glu)
c.7712C>A (p.Ala2571Glu)
c.7433C>A (p.Ala2478Glu)
c.6476C>A (p.Ala2159Glu)
c.6467C>A (p.Ala2156Glu)
n.12112G>T
5g.37064570C>GCA359521991CPLANE1,NIPBLc.8093C>G (p.Ala2698Gly)
c.*37C>G (n.*37C>G)
n.2016C>G
c.1-8C>G (n.1-8C>G)
c.*547C>G (n.*547C>G)
c.7349C>G (p.Ala2450Gly)
c.7946C>G (p.Ala2649Gly)
c.7895C>G (p.Ala2632Gly)
c.7712C>G (p.Ala2571Gly)
c.7433C>G (p.Ala2478Gly)
c.6476C>G (p.Ala2159Gly)
c.6467C>G (p.Ala2156Gly)
n.12112G>C
5g.37064570C>TCA359521993CPLANE1,NIPBLc.8093C>T (p.Ala2698Val)
c.*37C>T (n.*37C>T)
n.2016C>T
c.1-8C>T (n.1-8C>T)
c.*547C>T (n.*547C>T)
c.7349C>T (p.Ala2450Val)
c.7946C>T (p.Ala2649Val)
c.7895C>T (p.Ala2632Val)
c.7712C>T (p.Ala2571Val)
c.7433C>T (p.Ala2478Val)
c.6476C>T (p.Ala2159Val)
c.6467C>T (p.Ala2156Val)
n.12112G>A
 COSMIC
5g.37064571A>CCA443916410CPLANE1,NIPBLc.8094A>C (p.Ala2698=)
c.*38A>C (n.*38A>C)
n.2017A>C
c.1-7A>C (n.1-7A>C)
c.*548A>C (n.*548A>C)
c.7350A>C (p.Ala2450=)
c.7947A>C (p.Ala2649=)
c.7896A>C (p.Ala2632=)
c.7713A>C (p.Ala2571=)
c.7434A>C (p.Ala2478=)
c.6477A>C (p.Ala2159=)
c.6468A>C (p.Ala2156=)
n.12111T>G
5g.37064571A>GCA443916411CPLANE1,NIPBLc.8094A>G (p.Ala2698=)
c.*38A>G (n.*38A>G)
n.2017A>G
c.1-7A>G (n.1-7A>G)
c.*548A>G (n.*548A>G)
c.7350A>G (p.Ala2450=)
c.7947A>G (p.Ala2649=)
c.7896A>G (p.Ala2632=)
c.7713A>G (p.Ala2571=)
c.7434A>G (p.Ala2478=)
c.6477A>G (p.Ala2159=)
c.6468A>G (p.Ala2156=)
n.12111T>C
5g.37064571A>TCA443916412CPLANE1,NIPBLc.8094A>T (p.Ala2698=)
c.*38A>T (n.*38A>T)
n.2017A>T
c.1-7A>T (n.1-7A>T)
c.*548A>T (n.*548A>T)
c.7350A>T (p.Ala2450=)
c.7947A>T (p.Ala2649=)
c.7896A>T (p.Ala2632=)
c.7713A>T (p.Ala2571=)
c.7434A>T (p.Ala2478=)
c.6477A>T (p.Ala2159=)
c.6468A>T (p.Ala2156=)
n.12111T>A
 gnomAD v4
5g.37064572G>ACA359521995CPLANE1,NIPBLc.8095G>A (p.Ala2699Thr)
c.*39G>A (n.*39G>A)
n.2018G>A
c.1-6G>A (n.1-6G>A)
c.*549G>A (n.*549G>A)
c.7351G>A (p.Ala2451Thr)
c.7948G>A (p.Ala2650Thr)
c.7897G>A (p.Ala2633Thr)
c.7714G>A (p.Ala2572Thr)
c.7435G>A (p.Ala2479Thr)
c.6478G>A (p.Ala2160Thr)
c.6469G>A (p.Ala2157Thr)
n.12110C>T
 dbSNP gnomAD v3 gnomAD v4
5g.37064572G>CCA359521998CPLANE1,NIPBLc.8095G>C (p.Ala2699Pro)
c.*39G>C (n.*39G>C)
n.2018G>C
c.1-6G>C (n.1-6G>C)
c.*549G>C (n.*549G>C)
c.7351G>C (p.Ala2451Pro)
c.7948G>C (p.Ala2650Pro)
c.7897G>C (p.Ala2633Pro)
c.7714G>C (p.Ala2572Pro)
c.7435G>C (p.Ala2479Pro)
c.6478G>C (p.Ala2160Pro)
c.6469G>C (p.Ala2157Pro)
n.12110C>G
5g.37064572G>TCA359522012CPLANE1,NIPBLc.8095G>T (p.Ala2699Ser)
c.*39G>T (n.*39G>T)
n.2018G>T
c.1-6G>T (n.1-6G>T)
c.*549G>T (n.*549G>T)
c.7351G>T (p.Ala2451Ser)
c.7948G>T (p.Ala2650Ser)
c.7897G>T (p.Ala2633Ser)
c.7714G>T (p.Ala2572Ser)
c.7435G>T (p.Ala2479Ser)
c.6478G>T (p.Ala2160Ser)
c.6469G>T (p.Ala2157Ser)
n.12110C>A
 gnomAD v4
5g.37064573C>ACA359522017CPLANE1,NIPBLc.8096C>A (p.Ala2699Glu)
c.*40C>A (n.*40C>A)
n.2019C>A
c.1-5C>A (n.1-5C>A)
c.*550C>A (n.*550C>A)
c.7352C>A (p.Ala2451Glu)
c.7949C>A (p.Ala2650Glu)
c.7898C>A (p.Ala2633Glu)
c.7715C>A (p.Ala2572Glu)
c.7436C>A (p.Ala2479Glu)
c.6479C>A (p.Ala2160Glu)
c.6470C>A (p.Ala2157Glu)
n.12109G>T
5g.37064573C=CA1539590177CPLANE1,NIPBLc.8096C= (p.Ala2699=)
c.*40C= (n.*40C=)
n.2019C=
c.1-5C= (n.1-5C=)
c.*550C= (n.*550C=)
c.7352C= (p.Ala2451=)
c.7949C= (p.Ala2650=)
c.7898C= (p.Ala2633=)
c.7715C= (p.Ala2572=)
c.7436C= (p.Ala2479=)
c.6479C= (p.Ala2160=)
c.6470C= (p.Ala2157=)
n.12109G=
5g.37064573C>GCA359522018CPLANE1,NIPBLc.8096C>G (p.Ala2699Gly)
c.*40C>G (n.*40C>G)
n.2019C>G
c.1-5C>G (n.1-5C>G)
c.*550C>G (n.*550C>G)
c.7352C>G (p.Ala2451Gly)
c.7949C>G (p.Ala2650Gly)
c.7898C>G (p.Ala2633Gly)
c.7715C>G (p.Ala2572Gly)
c.7436C>G (p.Ala2479Gly)
c.6479C>G (p.Ala2160Gly)
c.6470C>G (p.Ala2157Gly)
n.12109G>C
5g.37064573C>TCA359522020CPLANE1,NIPBLc.8096C>T (p.Ala2699Val)
c.*40C>T (n.*40C>T)
n.2019C>T
c.1-5C>T (n.1-5C>T)
c.*550C>T (n.*550C>T)
c.7352C>T (p.Ala2451Val)
c.7949C>T (p.Ala2650Val)
c.7898C>T (p.Ala2633Val)
c.7715C>T (p.Ala2572Val)
c.7436C>T (p.Ala2479Val)
c.6479C>T (p.Ala2160Val)
c.6470C>T (p.Ala2157Val)
n.12109G>A
 dbSNP gnomAD v4 COSMIC
5g.37064574A=CA1539590181CPLANE1,NIPBLc.8097A= (p.Ala2699=)
c.*41A= (n.*41A=)
n.2020A=
c.1-4A= (n.1-4A=)
c.*551A= (n.*551A=)
c.7353A= (p.Ala2451=)
c.7950A= (p.Ala2650=)
c.7899A= (p.Ala2633=)
c.7716A= (p.Ala2572=)
c.7437A= (p.Ala2479=)
c.6480A= (p.Ala2160=)
c.6471A= (p.Ala2157=)
n.12108T=
5g.37064574A>CCA443916413CPLANE1,NIPBLc.8097A>C (p.Ala2699=)
c.*41A>C (n.*41A>C)
n.2020A>C
c.1-4A>C (n.1-4A>C)
c.*551A>C (n.*551A>C)
c.7353A>C (p.Ala2451=)
c.7950A>C (p.Ala2650=)
c.7899A>C (p.Ala2633=)
c.7716A>C (p.Ala2572=)
c.7437A>C (p.Ala2479=)
c.6480A>C (p.Ala2160=)
c.6471A>C (p.Ala2157=)
n.12108T>G
5g.37064574A>GCA3237337CPLANE1,NIPBLc.8097A>G (p.Ala2699=)
c.*41A>G (n.*41A>G)
n.2020A>G
c.1-4A>G (n.1-4A>G)
c.*551A>G (n.*551A>G)
c.7353A>G (p.Ala2451=)
c.7950A>G (p.Ala2650=)
c.7899A>G (p.Ala2633=)
c.7716A>G (p.Ala2572=)
c.7437A>G (p.Ala2479=)
c.6480A>G (p.Ala2160=)
c.6471A>G (p.Ala2157=)
n.12108T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064574A>TCA443916414CPLANE1,NIPBLc.8097A>T (p.Ala2699=)
c.*41A>T (n.*41A>T)
n.2020A>T
c.1-4A>T (n.1-4A>T)
c.*551A>T (n.*551A>T)
c.7353A>T (p.Ala2451=)
c.7950A>T (p.Ala2650=)
c.7899A>T (p.Ala2633=)
c.7716A>T (p.Ala2572=)
c.7437A>T (p.Ala2479=)
c.6480A>T (p.Ala2160=)
c.6471A>T (p.Ala2157=)
n.12108T>A
5g.37064575C>ACA359522025CPLANE1,NIPBLc.8098C>A (p.Gln2700Lys)
c.*42C>A (n.*42C>A)
n.2021C>A
c.1-3C>A (n.1-3C>A)
c.*552C>A (n.*552C>A)
c.7354C>A (p.Gln2452Lys)
c.7951C>A (p.Gln2651Lys)
c.7900C>A (p.Gln2634Lys)
c.7717C>A (p.Gln2573Lys)
c.7438C>A (p.Gln2480Lys)
c.6481C>A (p.Gln2161Lys)
c.6472C>A (p.Gln2158Lys)
n.12107G>T
5g.37064575C>GCA359522027CPLANE1,NIPBLc.8098C>G (p.Gln2700Glu)
c.*42C>G (n.*42C>G)
n.2021C>G
c.1-3C>G (n.1-3C>G)
c.*552C>G (n.*552C>G)
c.7354C>G (p.Gln2452Glu)
c.7951C>G (p.Gln2651Glu)
c.7900C>G (p.Gln2634Glu)
c.7717C>G (p.Gln2573Glu)
c.7438C>G (p.Gln2480Glu)
c.6481C>G (p.Gln2161Glu)
c.6472C>G (p.Gln2158Glu)
n.12107G>C
5g.37064575C>TCA359522029CPLANE1,NIPBLc.8098C>T (p.Gln2700Ter)
c.*42C>T (n.*42C>T)
n.2021C>T
c.1-3C>T (n.1-3C>T)
c.*552C>T (n.*552C>T)
c.7354C>T (p.Gln2452Ter)
c.7951C>T (p.Gln2651Ter)
c.7900C>T (p.Gln2634Ter)
c.7717C>T (p.Gln2573Ter)
c.7438C>T (p.Gln2480Ter)
c.6481C>T (p.Gln2161Ter)
c.6472C>T (p.Gln2158Ter)
n.12107G>A
5g.37064576A>CCA359522052CPLANE1,NIPBLc.8099A>C (p.Gln2700Pro)
c.*43A>C (n.*43A>C)
n.2022A>C
c.1-2A>C (n.1-2A>C)
c.*553A>C (n.*553A>C)
c.7355A>C (p.Gln2452Pro)
c.7952A>C (p.Gln2651Pro)
c.7901A>C (p.Gln2634Pro)
c.7718A>C (p.Gln2573Pro)
c.7439A>C (p.Gln2480Pro)
c.6482A>C (p.Gln2161Pro)
c.6473A>C (p.Gln2158Pro)
n.12106T>G
5g.37064576A>GCA359522040CPLANE1,NIPBLc.8099A>G (p.Gln2700Arg)
c.*43A>G (n.*43A>G)
n.2022A>G
c.1-2A>G (n.1-2A>G)
c.*553A>G (n.*553A>G)
c.7355A>G (p.Gln2452Arg)
c.7952A>G (p.Gln2651Arg)
c.7901A>G (p.Gln2634Arg)
c.7718A>G (p.Gln2573Arg)
c.7439A>G (p.Gln2480Arg)
c.6482A>G (p.Gln2161Arg)
c.6473A>G (p.Gln2158Arg)
n.12106T>C
5g.37064576A>TCA359522049CPLANE1,NIPBLc.8099A>T (p.Gln2700Leu)
c.*43A>T (n.*43A>T)
n.2022A>T
c.1-2A>T (n.1-2A>T)
c.*553A>T (n.*553A>T)
c.7355A>T (p.Gln2452Leu)
c.7952A>T (p.Gln2651Leu)
c.7901A>T (p.Gln2634Leu)
c.7718A>T (p.Gln2573Leu)
c.7439A>T (p.Gln2480Leu)
c.6482A>T (p.Gln2161Leu)
c.6473A>T (p.Gln2158Leu)
n.12106T>A
 gnomAD v4
5g.37064577G>ACA443916419CPLANE1,NIPBLc.8100G>A (p.Gln2700=)
c.*44G>A (n.*44G>A)
n.2023G>A
c.1-1G>A (n.1-1G>A)
c.*554G>A (n.*554G>A)
c.7356G>A (p.Gln2452=)
c.7953G>A (p.Gln2651=)
c.7902G>A (p.Gln2634=)
c.7719G>A (p.Gln2573=)
c.7440G>A (p.Gln2480=)
c.6483G>A (p.Gln2161=)
c.6474G>A (p.Gln2158=)
n.12105C>T
5g.37064577G>CCA359522056CPLANE1,NIPBLc.8100G>C (p.Gln2700His)
c.*44G>C (n.*44G>C)
n.2023G>C
c.1-1G>C (n.1-1G>C)
c.*554G>C (n.*554G>C)
c.7356G>C (p.Gln2452His)
c.7953G>C (p.Gln2651His)
c.7902G>C (p.Gln2634His)
c.7719G>C (p.Gln2573His)
c.7440G>C (p.Gln2480His)
c.6483G>C (p.Gln2161His)
c.6474G>C (p.Gln2158His)
n.12105C>G
 gnomAD v4
5g.37064577G>TCA359522060CPLANE1,NIPBLc.8100G>T (p.Gln2700His)
c.*44G>T (n.*44G>T)
n.2023G>T
c.1-1G>T (n.1-1G>T)
c.*554G>T (n.*554G>T)
c.7356G>T (p.Gln2452His)
c.7953G>T (p.Gln2651His)
c.7902G>T (p.Gln2634His)
c.7719G>T (p.Gln2573His)
c.7440G>T (p.Gln2480His)
c.6483G>T (p.Gln2161His)
c.6474G>T (p.Gln2158His)
n.12105C>A
5g.37064578A>CCA359522063CPLANE1,NIPBLc.8101A>C (p.Met2701Leu)
c.*45A>C (n.*45A>C)
n.2024A>C
c.1A>C (p.Met1Leu)
c.*555A>C (n.*555A>C)
c.7357A>C (p.Met2453Leu)
c.7954A>C (p.Met2652Leu)
c.7903A>C (p.Met2635Leu)
c.7720A>C (p.Met2574Leu)
c.7441A>C (p.Met2481Leu)
c.6484A>C (p.Met2162Leu)
c.6475A>C (p.Met2159Leu)
n.12104T>G
5g.37064578A>GCA359522065CPLANE1,NIPBLc.8101A>G (p.Met2701Val)
c.*45A>G (n.*45A>G)
n.2024A>G
c.1A>G (p.Met1Val)
c.*555A>G (n.*555A>G)
c.7357A>G (p.Met2453Val)
c.7954A>G (p.Met2652Val)
c.7903A>G (p.Met2635Val)
c.7720A>G (p.Met2574Val)
c.7441A>G (p.Met2481Val)
c.6484A>G (p.Met2162Val)
c.6475A>G (p.Met2159Val)
n.12104T>C
 ClinVar gnomAD v4
5g.37064578A>TCA359522068CPLANE1,NIPBLc.8101A>T (p.Met2701Leu)
c.*45A>T (n.*45A>T)
n.2024A>T
c.1A>T (p.Met1Leu)
c.*555A>T (n.*555A>T)
c.7357A>T (p.Met2453Leu)
c.7954A>T (p.Met2652Leu)
c.7903A>T (p.Met2635Leu)
c.7720A>T (p.Met2574Leu)
c.7441A>T (p.Met2481Leu)
c.6484A>T (p.Met2162Leu)
c.6475A>T (p.Met2159Leu)
n.12104T>A
5g.37064579T>ACA359522071CPLANE1,NIPBLc.8102T>A (p.Met2701Lys)
c.*46T>A (n.*46T>A)
n.2025T>A
c.2T>A (p.Met1Lys)
c.*556T>A (n.*556T>A)
c.7358T>A (p.Met2453Lys)
c.7955T>A (p.Met2652Lys)
c.7904T>A (p.Met2635Lys)
c.7721T>A (p.Met2574Lys)
c.7442T>A (p.Met2481Lys)
c.6485T>A (p.Met2162Lys)
c.6476T>A (p.Met2159Lys)
n.12103A>T
5g.37064579T>CCA359522073CPLANE1,NIPBLc.8102T>C (p.Met2701Thr)
c.*46T>C (n.*46T>C)
n.2025T>C
c.2T>C (p.Met1Thr)
c.*556T>C (n.*556T>C)
c.7358T>C (p.Met2453Thr)
c.7955T>C (p.Met2652Thr)
c.7904T>C (p.Met2635Thr)
c.7721T>C (p.Met2574Thr)
c.7442T>C (p.Met2481Thr)
c.6485T>C (p.Met2162Thr)
c.6476T>C (p.Met2159Thr)
n.12103A>G
5g.37064579T>GCA359522078CPLANE1,NIPBLc.8102T>G (p.Met2701Arg)
c.*46T>G (n.*46T>G)
n.2025T>G
c.2T>G (p.Met1Arg)
c.*556T>G (n.*556T>G)
c.7358T>G (p.Met2453Arg)
c.7955T>G (p.Met2652Arg)
c.7904T>G (p.Met2635Arg)
c.7721T>G (p.Met2574Arg)
c.7442T>G (p.Met2481Arg)
c.6485T>G (p.Met2162Arg)
c.6476T>G (p.Met2159Arg)
n.12103A>C
5g.37064580G>ACA359522081CPLANE1,NIPBLc.8103G>A (p.Met2701Ile)
c.*47G>A (n.*47G>A)
n.2026G>A
c.3G>A (p.Met1Ile)
c.*557G>A (n.*557G>A)
c.7359G>A (p.Met2453Ile)
c.7956G>A (p.Met2652Ile)
c.7905G>A (p.Met2635Ile)
c.7722G>A (p.Met2574Ile)
c.7443G>A (p.Met2481Ile)
c.6486G>A (p.Met2162Ile)
c.6477G>A (p.Met2159Ile)
n.12102C>T
5g.37064580G>CCA359522084CPLANE1,NIPBLc.8103G>C (p.Met2701Ile)
c.*47G>C (n.*47G>C)
n.2026G>C
c.3G>C (p.Met1Ile)
c.*557G>C (n.*557G>C)
c.7359G>C (p.Met2453Ile)
c.7956G>C (p.Met2652Ile)
c.7905G>C (p.Met2635Ile)
c.7722G>C (p.Met2574Ile)
c.7443G>C (p.Met2481Ile)
c.6486G>C (p.Met2162Ile)
c.6477G>C (p.Met2159Ile)
n.12102C>G
5g.37064580G>TCA359522087CPLANE1,NIPBLc.8103G>T (p.Met2701Ile)
c.*47G>T (n.*47G>T)
n.2026G>T
c.3G>T (p.Met1Ile)
c.*557G>T (n.*557G>T)
c.7359G>T (p.Met2453Ile)
c.7956G>T (p.Met2652Ile)
c.7905G>T (p.Met2635Ile)
c.7722G>T (p.Met2574Ile)
c.7443G>T (p.Met2481Ile)
c.6486G>T (p.Met2162Ile)
c.6477G>T (p.Met2159Ile)
n.12102C>A
5g.37064581A>CCA359522096CPLANE1,NIPBLc.8104A>C (p.Asn2702His)
c.*48A>C (n.*48A>C)
n.2027A>C
c.4A>C (p.Asn2His)
c.*558A>C (n.*558A>C)
c.7360A>C (p.Asn2454His)
c.7957A>C (p.Asn2653His)
c.7906A>C (p.Asn2636His)
c.7723A>C (p.Asn2575His)
c.7444A>C (p.Asn2482His)
c.6487A>C (p.Asn2163His)
c.6478A>C (p.Asn2160His)
n.12101T>G
5g.37064581A>GCA359522094CPLANE1,NIPBLc.8104A>G (p.Asn2702Asp)
c.*48A>G (n.*48A>G)
n.2027A>G
c.4A>G (p.Asn2Asp)
c.*558A>G (n.*558A>G)
c.7360A>G (p.Asn2454Asp)
c.7957A>G (p.Asn2653Asp)
c.7906A>G (p.Asn2636Asp)
c.7723A>G (p.Asn2575Asp)
c.7444A>G (p.Asn2482Asp)
c.6487A>G (p.Asn2163Asp)
c.6478A>G (p.Asn2160Asp)
n.12101T>C
5g.37064581A>TCA359522091CPLANE1,NIPBLc.8104A>T (p.Asn2702Tyr)
c.*48A>T (n.*48A>T)
n.2027A>T
c.4A>T (p.Asn2Tyr)
c.*558A>T (n.*558A>T)
c.7360A>T (p.Asn2454Tyr)
c.7957A>T (p.Asn2653Tyr)
c.7906A>T (p.Asn2636Tyr)
c.7723A>T (p.Asn2575Tyr)
c.7444A>T (p.Asn2482Tyr)
c.6487A>T (p.Asn2163Tyr)
c.6478A>T (p.Asn2160Tyr)
n.12101T>A
5g.37064582A>CCA359522100CPLANE1,NIPBLc.8105A>C (p.Asn2702Thr)
c.*49A>C (n.*49A>C)
n.2028A>C
c.5A>C (p.Asn2Thr)
c.*559A>C (n.*559A>C)
c.7361A>C (p.Asn2454Thr)
c.7958A>C (p.Asn2653Thr)
c.7907A>C (p.Asn2636Thr)
c.7724A>C (p.Asn2575Thr)
c.7445A>C (p.Asn2482Thr)
c.6488A>C (p.Asn2163Thr)
c.6479A>C (p.Asn2160Thr)
n.12100T>G
 ClinVar
5g.37064582A>GCA359522102CPLANE1,NIPBLc.8105A>G (p.Asn2702Ser)
c.*49A>G (n.*49A>G)
n.2028A>G
c.5A>G (p.Asn2Ser)
c.*559A>G (n.*559A>G)
c.7361A>G (p.Asn2454Ser)
c.7958A>G (p.Asn2653Ser)
c.7907A>G (p.Asn2636Ser)
c.7724A>G (p.Asn2575Ser)
c.7445A>G (p.Asn2482Ser)
c.6488A>G (p.Asn2163Ser)
c.6479A>G (p.Asn2160Ser)
n.12100T>C
5g.37064582A>TCA359522105CPLANE1,NIPBLc.8105A>T (p.Asn2702Ile)
c.*49A>T (n.*49A>T)
n.2028A>T
c.5A>T (p.Asn2Ile)
c.*559A>T (n.*559A>T)
c.7361A>T (p.Asn2454Ile)
c.7958A>T (p.Asn2653Ile)
c.7907A>T (p.Asn2636Ile)
c.7724A>T (p.Asn2575Ile)
c.7445A>T (p.Asn2482Ile)
c.6488A>T (p.Asn2163Ile)
c.6479A>T (p.Asn2160Ile)
n.12100T>A
 gnomAD v4
5g.37064583T>ACA359522108CPLANE1,NIPBLc.8106T>A (p.Asn2702Lys)
c.*50T>A (n.*50T>A)
n.2029T>A
c.6T>A (p.Asn2Lys)
c.*560T>A (n.*560T>A)
c.7362T>A (p.Asn2454Lys)
c.7959T>A (p.Asn2653Lys)
c.7908T>A (p.Asn2636Lys)
c.7725T>A (p.Asn2575Lys)
c.7446T>A (p.Asn2482Lys)
c.6489T>A (p.Asn2163Lys)
c.6480T>A (p.Asn2160Lys)
n.12099A>T
 gnomAD v4
5g.37064583T>CCA443916423CPLANE1,NIPBLc.8106T>C (p.Asn2702=)
c.*50T>C (n.*50T>C)
n.2029T>C
c.6T>C (p.Asn2=)
c.*560T>C (n.*560T>C)
c.7362T>C (p.Asn2454=)
c.7959T>C (p.Asn2653=)
c.7908T>C (p.Asn2636=)
c.7725T>C (p.Asn2575=)
c.7446T>C (p.Asn2482=)
c.6489T>C (p.Asn2163=)
c.6480T>C (p.Asn2160=)
n.12099A>G
5g.37064583T>GCA359522109CPLANE1,NIPBLc.8106T>G (p.Asn2702Lys)
c.*50T>G (n.*50T>G)
n.2029T>G
c.6T>G (p.Asn2Lys)
c.*560T>G (n.*560T>G)
c.7362T>G (p.Asn2454Lys)
c.7959T>G (p.Asn2653Lys)
c.7908T>G (p.Asn2636Lys)
c.7725T>G (p.Asn2575Lys)
c.7446T>G (p.Asn2482Lys)
c.6489T>G (p.Asn2163Lys)
c.6480T>G (p.Asn2160Lys)
n.12099A>C
5g.37064584G>ACA359522111CPLANE1,NIPBLc.8107G>A (p.Glu2703Lys)
c.*51G>A (n.*51G>A)
n.2030G>A
c.7G>A (p.Glu3Lys)
c.*561G>A (n.*561G>A)
c.7363G>A (p.Glu2455Lys)
c.7960G>A (p.Glu2654Lys)
c.7909G>A (p.Glu2637Lys)
c.7726G>A (p.Glu2576Lys)
c.7447G>A (p.Glu2483Lys)
c.6490G>A (p.Glu2164Lys)
c.6481G>A (p.Glu2161Lys)
n.12098C>T
5g.37064584G>CCA359522113CPLANE1,NIPBLc.8107G>C (p.Glu2703Gln)
c.*51G>C (n.*51G>C)
n.2030G>C
c.7G>C (p.Glu3Gln)
c.*561G>C (n.*561G>C)
c.7363G>C (p.Glu2455Gln)
c.7960G>C (p.Glu2654Gln)
c.7909G>C (p.Glu2637Gln)
c.7726G>C (p.Glu2576Gln)
c.7447G>C (p.Glu2483Gln)
c.6490G>C (p.Glu2164Gln)
c.6481G>C (p.Glu2161Gln)
n.12098C>G
5g.37064584G>TCA359522114CPLANE1,NIPBLc.8107G>T (p.Glu2703Ter)
c.*51G>T (n.*51G>T)
n.2030G>T
c.7G>T (p.Glu3Ter)
c.*561G>T (n.*561G>T)
c.7363G>T (p.Glu2455Ter)
c.7960G>T (p.Glu2654Ter)
c.7909G>T (p.Glu2637Ter)
c.7726G>T (p.Glu2576Ter)
c.7447G>T (p.Glu2483Ter)
c.6490G>T (p.Glu2164Ter)
c.6481G>T (p.Glu2161Ter)
n.12098C>A
5g.37064585A>CCA359522116CPLANE1,NIPBLc.8108A>C (p.Glu2703Ala)
c.*52A>C (n.*52A>C)
n.2031A>C
c.8A>C (p.Glu3Ala)
c.*562A>C (n.*562A>C)
c.7364A>C (p.Glu2455Ala)
c.7961A>C (p.Glu2654Ala)
c.7910A>C (p.Glu2637Ala)
c.7727A>C (p.Glu2576Ala)
c.7448A>C (p.Glu2483Ala)
c.6491A>C (p.Glu2164Ala)
c.6482A>C (p.Glu2161Ala)
n.12097T>G
5g.37064585A>GCA359522117CPLANE1,NIPBLc.8108A>G (p.Glu2703Gly)
c.*52A>G (n.*52A>G)
n.2031A>G
c.8A>G (p.Glu3Gly)
c.*562A>G (n.*562A>G)
c.7364A>G (p.Glu2455Gly)
c.7961A>G (p.Glu2654Gly)
c.7910A>G (p.Glu2637Gly)
c.7727A>G (p.Glu2576Gly)
c.7448A>G (p.Glu2483Gly)
c.6491A>G (p.Glu2164Gly)
c.6482A>G (p.Glu2161Gly)
n.12097T>C
 dbSNP COSMIC
5g.37064585A>TCA359522119CPLANE1,NIPBLc.8108A>T (p.Glu2703Val)
c.*52A>T (n.*52A>T)
n.2031A>T
c.8A>T (p.Glu3Val)
c.*562A>T (n.*562A>T)
c.7364A>T (p.Glu2455Val)
c.7961A>T (p.Glu2654Val)
c.7910A>T (p.Glu2637Val)
c.7727A>T (p.Glu2576Val)
c.7448A>T (p.Glu2483Val)
c.6491A>T (p.Glu2164Val)
c.6482A>T (p.Glu2161Val)
n.12097T>A
5g.37064586A>CCA359522122CPLANE1,NIPBLc.8109A>C (p.Glu2703Asp)
c.*53A>C (n.*53A>C)
n.2032A>C
c.9A>C (p.Glu3Asp)
c.*563A>C (n.*563A>C)
c.7365A>C (p.Glu2455Asp)
c.7962A>C (p.Glu2654Asp)
c.7911A>C (p.Glu2637Asp)
c.7728A>C (p.Glu2576Asp)
c.7449A>C (p.Glu2483Asp)
c.6492A>C (p.Glu2164Asp)
c.6483A>C (p.Glu2161Asp)
n.12096T>G
5g.37064586A>GCA443916424CPLANE1,NIPBLc.8109A>G (p.Glu2703=)
c.*53A>G (n.*53A>G)
n.2032A>G
c.9A>G (p.Glu3=)
c.*563A>G (n.*563A>G)
c.7365A>G (p.Glu2455=)
c.7962A>G (p.Glu2654=)
c.7911A>G (p.Glu2637=)
c.7728A>G (p.Glu2576=)
c.7449A>G (p.Glu2483=)
c.6492A>G (p.Glu2164=)
c.6483A>G (p.Glu2161=)
n.12096T>C
5g.37064586A>TCA359522124CPLANE1,NIPBLc.8109A>T (p.Glu2703Asp)
c.*53A>T (n.*53A>T)
n.2032A>T
c.9A>T (p.Glu3Asp)
c.*563A>T (n.*563A>T)
c.7365A>T (p.Glu2455Asp)
c.7962A>T (p.Glu2654Asp)
c.7911A>T (p.Glu2637Asp)
c.7728A>T (p.Glu2576Asp)
c.7449A>T (p.Glu2483Asp)
c.6492A>T (p.Glu2164Asp)
c.6483A>T (p.Glu2161Asp)
n.12096T>A
5g.37064587A>CCA359522128CPLANE1,NIPBLc.8110A>C (p.Ser2704Arg)
c.*54A>C (n.*54A>C)
n.2033A>C
c.10A>C (p.Ser4Arg)
c.*564A>C (n.*564A>C)
c.7366A>C (p.Ser2456Arg)
c.7963A>C (p.Ser2655Arg)
c.7912A>C (p.Ser2638Arg)
c.7729A>C (p.Ser2577Arg)
c.7450A>C (p.Ser2484Arg)
c.6493A>C (p.Ser2165Arg)
c.6484A>C (p.Ser2162Arg)
n.12095T>G
5g.37064587A>GCA359522127CPLANE1,NIPBLc.8110A>G (p.Ser2704Gly)
c.*54A>G (n.*54A>G)
n.2033A>G
c.10A>G (p.Ser4Gly)
c.*564A>G (n.*564A>G)
c.7366A>G (p.Ser2456Gly)
c.7963A>G (p.Ser2655Gly)
c.7912A>G (p.Ser2638Gly)
c.7729A>G (p.Ser2577Gly)
c.7450A>G (p.Ser2484Gly)
c.6493A>G (p.Ser2165Gly)
c.6484A>G (p.Ser2162Gly)
n.12095T>C
5g.37064587A>TCA359522126CPLANE1,NIPBLc.8110A>T (p.Ser2704Cys)
c.*54A>T (n.*54A>T)
n.2033A>T
c.10A>T (p.Ser4Cys)
c.*564A>T (n.*564A>T)
c.7366A>T (p.Ser2456Cys)
c.7963A>T (p.Ser2655Cys)
c.7912A>T (p.Ser2638Cys)
c.7729A>T (p.Ser2577Cys)
c.7450A>T (p.Ser2484Cys)
c.6493A>T (p.Ser2165Cys)
c.6484A>T (p.Ser2162Cys)
n.12095T>A
5g.37064587_37064589delCA2673577302CPLANE1,NIPBLc.8110_8112del (p.Ser2704del)
c.*54_*56del (n.*54_*56del)
n.2033_2035del
c.10_12del (p.Ser4del)
c.*564_*566del (n.*564_*566del)
c.7366_7368del (p.Ser2456del)
c.7963_7965del (p.Ser2655del)
c.7912_7914del (p.Ser2638del)
c.7729_7731del (p.Ser2577del)
c.7450_7452del (p.Ser2484del)
c.6493_6495del (p.Ser2165del)
c.6484_6486del (p.Ser2162del)
n.12093_12095del
 gnomAD v4
5g.37064588G>ACA359522129CPLANE1,NIPBLc.8111G>A (p.Ser2704Asn)
c.*55G>A (n.*55G>A)
n.2034G>A
c.11G>A (p.Ser4Asn)
c.*565G>A (n.*565G>A)
c.7367G>A (p.Ser2456Asn)
c.7964G>A (p.Ser2655Asn)
c.7913G>A (p.Ser2638Asn)
c.7730G>A (p.Ser2577Asn)
c.7451G>A (p.Ser2484Asn)
c.6494G>A (p.Ser2165Asn)
c.6485G>A (p.Ser2162Asn)
n.12094C>T
 ClinVar
5g.37064588G>CCA359522130CPLANE1,NIPBLc.8111G>C (p.Ser2704Thr)
c.*55G>C (n.*55G>C)
n.2034G>C
c.11G>C (p.Ser4Thr)
c.*565G>C (n.*565G>C)
c.7367G>C (p.Ser2456Thr)
c.7964G>C (p.Ser2655Thr)
c.7913G>C (p.Ser2638Thr)
c.7730G>C (p.Ser2577Thr)
c.7451G>C (p.Ser2484Thr)
c.6494G>C (p.Ser2165Thr)
c.6485G>C (p.Ser2162Thr)
n.12094C>G
5g.37064588G>TCA359522131CPLANE1,NIPBLc.8111G>T (p.Ser2704Ile)
c.*55G>T (n.*55G>T)
n.2034G>T
c.11G>T (p.Ser4Ile)
c.*565G>T (n.*565G>T)
c.7367G>T (p.Ser2456Ile)
c.7964G>T (p.Ser2655Ile)
c.7913G>T (p.Ser2638Ile)
c.7730G>T (p.Ser2577Ile)
c.7451G>T (p.Ser2484Ile)
c.6494G>T (p.Ser2165Ile)
c.6485G>T (p.Ser2162Ile)
n.12094C>A
5g.37064589T>ACA359522133CPLANE1,NIPBLc.8112T>A (p.Ser2704Arg)
c.*56T>A (n.*56T>A)
n.2035T>A
c.12T>A (p.Ser4Arg)
c.*566T>A (n.*566T>A)
c.7368T>A (p.Ser2456Arg)
c.7965T>A (p.Ser2655Arg)
c.7914T>A (p.Ser2638Arg)
c.7731T>A (p.Ser2577Arg)
c.7452T>A (p.Ser2484Arg)
c.6495T>A (p.Ser2165Arg)
c.6486T>A (p.Ser2162Arg)
n.12093A>T
5g.37064589T>CCA443916427CPLANE1,NIPBLc.8112T>C (p.Ser2704=)
c.*56T>C (n.*56T>C)
n.2035T>C
c.12T>C (p.Ser4=)
c.*566T>C (n.*566T>C)
c.7368T>C (p.Ser2456=)
c.7965T>C (p.Ser2655=)
c.7914T>C (p.Ser2638=)
c.7731T>C (p.Ser2577=)
c.7452T>C (p.Ser2484=)
c.6495T>C (p.Ser2165=)
c.6486T>C (p.Ser2162=)
n.12093A>G
5g.37064589T>GCA359522136CPLANE1,NIPBLc.8112T>G (p.Ser2704Arg)
c.*56T>G (n.*56T>G)
n.2035T>G
c.12T>G (p.Ser4Arg)
c.*566T>G (n.*566T>G)
c.7368T>G (p.Ser2456Arg)
c.7965T>G (p.Ser2655Arg)
c.7914T>G (p.Ser2638Arg)
c.7731T>G (p.Ser2577Arg)
c.7452T>G (p.Ser2484Arg)
c.6495T>G (p.Ser2165Arg)
c.6486T>G (p.Ser2162Arg)
n.12093A>C
 gnomAD v4
5g.37064590G>ACA359522138CPLANE1,NIPBLc.8113G>A (p.Val2705Ile)
c.*57G>A (n.*57G>A)
n.2036G>A
c.13G>A (p.Val5Ile)
c.*567G>A (n.*567G>A)
c.7369G>A (p.Val2457Ile)
c.7966G>A (p.Val2656Ile)
c.7915G>A (p.Val2639Ile)
c.7732G>A (p.Val2578Ile)
c.7453G>A (p.Val2485Ile)
c.6496G>A (p.Val2166Ile)
c.6487G>A (p.Val2163Ile)
n.12092C>T
 COSMIC
5g.37064590G>CCA359522142CPLANE1,NIPBLc.8113G>C (p.Val2705Leu)
c.*57G>C (n.*57G>C)
n.2036G>C
c.13G>C (p.Val5Leu)
c.*567G>C (n.*567G>C)
c.7369G>C (p.Val2457Leu)
c.7966G>C (p.Val2656Leu)
c.7915G>C (p.Val2639Leu)
c.7732G>C (p.Val2578Leu)
c.7453G>C (p.Val2485Leu)
c.6496G>C (p.Val2166Leu)
c.6487G>C (p.Val2163Leu)
n.12092C>G
5g.37064590G>TCA359522145CPLANE1,NIPBLc.8113G>T (p.Val2705Phe)
c.*57G>T (n.*57G>T)
n.2036G>T
c.13G>T (p.Val5Phe)
c.*567G>T (n.*567G>T)
c.7369G>T (p.Val2457Phe)
c.7966G>T (p.Val2656Phe)
c.7915G>T (p.Val2639Phe)
c.7732G>T (p.Val2578Phe)
c.7453G>T (p.Val2485Phe)
c.6496G>T (p.Val2166Phe)
c.6487G>T (p.Val2163Phe)
n.12092C>A
5g.37064591T>ACA359522147CPLANE1,NIPBLc.8114T>A (p.Val2705Asp)
c.*58T>A (n.*58T>A)
n.2037T>A
c.14T>A (p.Val5Asp)
c.*568T>A (n.*568T>A)
c.7370T>A (p.Val2457Asp)
c.7967T>A (p.Val2656Asp)
c.7916T>A (p.Val2639Asp)
c.7733T>A (p.Val2578Asp)
c.7454T>A (p.Val2485Asp)
c.6497T>A (p.Val2166Asp)
c.6488T>A (p.Val2163Asp)
n.12091A>T
5g.37064591T>CCA359522148CPLANE1,NIPBLc.8114T>C (p.Val2705Ala)
c.*58T>C (n.*58T>C)
n.2037T>C
c.14T>C (p.Val5Ala)
c.*568T>C (n.*568T>C)
c.7370T>C (p.Val2457Ala)
c.7967T>C (p.Val2656Ala)
c.7916T>C (p.Val2639Ala)
c.7733T>C (p.Val2578Ala)
c.7454T>C (p.Val2485Ala)
c.6497T>C (p.Val2166Ala)
c.6488T>C (p.Val2163Ala)
n.12091A>G
5g.37064591T>GCA359522150CPLANE1,NIPBLc.8114T>G (p.Val2705Gly)
c.*58T>G (n.*58T>G)
n.2037T>G
c.14T>G (p.Val5Gly)
c.*568T>G (n.*568T>G)
c.7370T>G (p.Val2457Gly)
c.7967T>G (p.Val2656Gly)
c.7916T>G (p.Val2639Gly)
c.7733T>G (p.Val2578Gly)
c.7454T>G (p.Val2485Gly)
c.6497T>G (p.Val2166Gly)
c.6488T>G (p.Val2163Gly)
n.12091A>C
5g.37064592T>ACA443916431CPLANE1,NIPBLc.8115T>A (p.Val2705=)
c.*59T>A (n.*59T>A)
n.2038T>A
c.15T>A (p.Val5=)
c.*569T>A (n.*569T>A)
c.7371T>A (p.Val2457=)
c.7968T>A (p.Val2656=)
c.7917T>A (p.Val2639=)
c.7734T>A (p.Val2578=)
c.7455T>A (p.Val2485=)
c.6498T>A (p.Val2166=)
c.6489T>A (p.Val2163=)
n.12090A>T
5g.37064592T>CCA443916433CPLANE1,NIPBLc.8115T>C (p.Val2705=)
c.*59T>C (n.*59T>C)
n.2038T>C
c.15T>C (p.Val5=)
c.*569T>C (n.*569T>C)
c.7371T>C (p.Val2457=)
c.7968T>C (p.Val2656=)
c.7917T>C (p.Val2639=)
c.7734T>C (p.Val2578=)
c.7455T>C (p.Val2485=)
c.6498T>C (p.Val2166=)
c.6489T>C (p.Val2163=)
n.12090A>G
5g.37064592T>GCA443916435CPLANE1,NIPBLc.8115T>G (p.Val2705=)
c.*59T>G (n.*59T>G)
n.2038T>G
c.15T>G (p.Val5=)
c.*569T>G (n.*569T>G)
c.7371T>G (p.Val2457=)
c.7968T>G (p.Val2656=)
c.7917T>G (p.Val2639=)
c.7734T>G (p.Val2578=)
c.7455T>G (p.Val2485=)
c.6498T>G (p.Val2166=)
c.6489T>G (p.Val2163=)
n.12090A>C
5g.37064593G>ACA359522151CPLANE1,NIPBLc.8116G>A (p.Asp2706Asn)
c.*60G>A (n.*60G>A)
n.2039G>A
c.16G>A (p.Asp6Asn)
c.*570G>A (n.*570G>A)
c.7372G>A (p.Asp2458Asn)
c.7969G>A (p.Asp2657Asn)
c.7918G>A (p.Asp2640Asn)
c.7735G>A (p.Asp2579Asn)
c.7456G>A (p.Asp2486Asn)
c.6499G>A (p.Asp2167Asn)
c.6490G>A (p.Asp2164Asn)
n.12089C>T
5g.37064593G>CCA359522152CPLANE1,NIPBLc.8116G>C (p.Asp2706His)
c.*60G>C (n.*60G>C)
n.2039G>C
c.16G>C (p.Asp6His)
c.*570G>C (n.*570G>C)
c.7372G>C (p.Asp2458His)
c.7969G>C (p.Asp2657His)
c.7918G>C (p.Asp2640His)
c.7735G>C (p.Asp2579His)
c.7456G>C (p.Asp2486His)
c.6499G>C (p.Asp2167His)
c.6490G>C (p.Asp2164His)
n.12089C>G
5g.37064593G>TCA359522154CPLANE1,NIPBLc.8116G>T (p.Asp2706Tyr)
c.*60G>T (n.*60G>T)
n.2039G>T
c.16G>T (p.Asp6Tyr)
c.*570G>T (n.*570G>T)
c.7372G>T (p.Asp2458Tyr)
c.7969G>T (p.Asp2657Tyr)
c.7918G>T (p.Asp2640Tyr)
c.7735G>T (p.Asp2579Tyr)
c.7456G>T (p.Asp2486Tyr)
c.6499G>T (p.Asp2167Tyr)
c.6490G>T (p.Asp2164Tyr)
n.12089C>A
5g.37064594A>CCA359522157CPLANE1,NIPBLc.8117A>C (p.Asp2706Ala)
c.*61A>C (n.*61A>C)
n.2040A>C
c.17A>C (p.Asp6Ala)
c.*571A>C (n.*571A>C)
c.7373A>C (p.Asp2458Ala)
c.7970A>C (p.Asp2657Ala)
c.7919A>C (p.Asp2640Ala)
c.7736A>C (p.Asp2579Ala)
c.7457A>C (p.Asp2486Ala)
c.6500A>C (p.Asp2167Ala)
c.6491A>C (p.Asp2164Ala)
n.12088T>G
5g.37064594A>GCA359522159CPLANE1,NIPBLc.8117A>G (p.Asp2706Gly)
c.*61A>G (n.*61A>G)
n.2040A>G
c.17A>G (p.Asp6Gly)
c.*571A>G (n.*571A>G)
c.7373A>G (p.Asp2458Gly)
c.7970A>G (p.Asp2657Gly)
c.7919A>G (p.Asp2640Gly)
c.7736A>G (p.Asp2579Gly)
c.7457A>G (p.Asp2486Gly)
c.6500A>G (p.Asp2167Gly)
c.6491A>G (p.Asp2164Gly)
n.12088T>C
5g.37064594A>TCA359522156CPLANE1,NIPBLc.8117A>T (p.Asp2706Val)
c.*61A>T (n.*61A>T)
n.2040A>T
c.17A>T (p.Asp6Val)
c.*571A>T (n.*571A>T)
c.7373A>T (p.Asp2458Val)
c.7970A>T (p.Asp2657Val)
c.7919A>T (p.Asp2640Val)
c.7736A>T (p.Asp2579Val)
c.7457A>T (p.Asp2486Val)
c.6500A>T (p.Asp2167Val)
c.6491A>T (p.Asp2164Val)
n.12088T>A
5g.37064595C>ACA359522162CPLANE1,NIPBLc.8118C>A (p.Asp2706Glu)
c.*62C>A (n.*62C>A)
n.2041C>A
c.18C>A (p.Asp6Glu)
c.*572C>A (n.*572C>A)
c.7374C>A (p.Asp2458Glu)
c.7971C>A (p.Asp2657Glu)
c.7920C>A (p.Asp2640Glu)
c.7737C>A (p.Asp2579Glu)
c.7458C>A (p.Asp2486Glu)
c.6501C>A (p.Asp2167Glu)
c.6492C>A (p.Asp2164Glu)
n.12087G>T
5g.37064595C=CA1539590186CPLANE1,NIPBLc.8118C= (p.Asp2706=)
c.*62C= (n.*62C=)
n.2041C=
c.18C= (p.Asp6=)
c.*572C= (n.*572C=)
c.7374C= (p.Asp2458=)
c.7971C= (p.Asp2657=)
c.7920C= (p.Asp2640=)
c.7737C= (p.Asp2579=)
c.7458C= (p.Asp2486=)
c.6501C= (p.Asp2167=)
c.6492C= (p.Asp2164=)
n.12087G=
5g.37064595C>GCA359522164CPLANE1,NIPBLc.8118C>G (p.Asp2706Glu)
c.*62C>G (n.*62C>G)
n.2041C>G
c.18C>G (p.Asp6Glu)
c.*572C>G (n.*572C>G)
c.7374C>G (p.Asp2458Glu)
c.7971C>G (p.Asp2657Glu)
c.7920C>G (p.Asp2640Glu)
c.7737C>G (p.Asp2579Glu)
c.7458C>G (p.Asp2486Glu)
c.6501C>G (p.Asp2167Glu)
c.6492C>G (p.Asp2164Glu)
n.12087G>C
5g.37064595C>TCA3237338CPLANE1,NIPBLc.8118C>T (p.Asp2706=)
c.*62C>T (n.*62C>T)
n.2041C>T
c.18C>T (p.Asp6=)
c.*572C>T (n.*572C>T)
c.7374C>T (p.Asp2458=)
c.7971C>T (p.Asp2657=)
c.7920C>T (p.Asp2640=)
c.7737C>T (p.Asp2579=)
c.7458C>T (p.Asp2486=)
c.6501C>T (p.Asp2167=)
c.6492C>T (p.Asp2164=)
n.12087G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.37064596G>ACA359522170CPLANE1,NIPBLc.8119G>A (p.Val2707Ile)
c.*63G>A (n.*63G>A)
n.2042G>A
c.19G>A (p.Val7Ile)
c.*573G>A (n.*573G>A)
c.7375G>A (p.Val2459Ile)
c.7972G>A (p.Val2658Ile)
c.7921G>A (p.Val2641Ile)
c.7738G>A (p.Val2580Ile)
c.7459G>A (p.Val2487Ile)
c.6502G>A (p.Val2168Ile)
c.6493G>A (p.Val2165Ile)
n.12086C>T
 gnomAD v4
5g.37064596G>CCA117058924CPLANE1,NIPBLc.8119G>C (p.Val2707Leu)
c.*63G>C (n.*63G>C)
n.2042G>C
c.19G>C (p.Val7Leu)
c.*573G>C (n.*573G>C)
c.7375G>C (p.Val2459Leu)
c.7972G>C (p.Val2658Leu)
c.7921G>C (p.Val2641Leu)
c.7738G>C (p.Val2580Leu)
c.7459G>C (p.Val2487Leu)
c.6502G>C (p.Val2168Leu)
c.6493G>C (p.Val2165Leu)
n.12086C>G
 dbSNP gnomAD v4
5g.37064596G=CA1539590193CPLANE1,NIPBLc.8119G= (p.Val2707=)
c.*63G= (n.*63G=)
n.2042G=
c.19G= (p.Val7=)
c.*573G= (n.*573G=)
c.7375G= (p.Val2459=)
c.7972G= (p.Val2658=)
c.7921G= (p.Val2641=)
c.7738G= (p.Val2580=)
c.7459G= (p.Val2487=)
c.6502G= (p.Val2168=)
c.6493G= (p.Val2165=)
n.12086C=
5g.37064596G>TCA359522173CPLANE1,NIPBLc.8119G>T (p.Val2707Phe)
c.*63G>T (n.*63G>T)
n.2042G>T
c.19G>T (p.Val7Phe)
c.*573G>T (n.*573G>T)
c.7375G>T (p.Val2459Phe)
c.7972G>T (p.Val2658Phe)
c.7921G>T (p.Val2641Phe)
c.7738G>T (p.Val2580Phe)
c.7459G>T (p.Val2487Phe)
c.6502G>T (p.Val2168Phe)
c.6493G>T (p.Val2165Phe)
n.12086C>A
 COSMIC
5g.37064597T>ACA359522176CPLANE1,NIPBLc.8120T>A (p.Val2707Asp)
c.*64T>A (n.*64T>A)
n.2043T>A
c.20T>A (p.Val7Asp)
c.*574T>A (n.*574T>A)
c.7376T>A (p.Val2459Asp)
c.7973T>A (p.Val2658Asp)
c.7922T>A (p.Val2641Asp)
c.7739T>A (p.Val2580Asp)
c.7460T>A (p.Val2487Asp)
c.6503T>A (p.Val2168Asp)
c.6494T>A (p.Val2165Asp)
n.12085A>T
5g.37064597T>CCA359522179CPLANE1,NIPBLc.8120T>C (p.Val2707Ala)
c.*64T>C (n.*64T>C)
n.2043T>C
c.20T>C (p.Val7Ala)
c.*574T>C (n.*574T>C)
c.7376T>C (p.Val2459Ala)
c.7973T>C (p.Val2658Ala)
c.7922T>C (p.Val2641Ala)
c.7739T>C (p.Val2580Ala)
c.7460T>C (p.Val2487Ala)
c.6503T>C (p.Val2168Ala)
c.6494T>C (p.Val2165Ala)
n.12085A>G
5g.37064597T>GCA359522182CPLANE1,NIPBLc.8120T>G (p.Val2707Gly)
c.*64T>G (n.*64T>G)
n.2043T>G
c.20T>G (p.Val7Gly)
c.*574T>G (n.*574T>G)
c.7376T>G (p.Val2459Gly)
c.7973T>G (p.Val2658Gly)
c.7922T>G (p.Val2641Gly)
c.7739T>G (p.Val2580Gly)
c.7460T>G (p.Val2487Gly)
c.6503T>G (p.Val2168Gly)
c.6494T>G (p.Val2165Gly)
n.12085A>C
5g.37064598C>ACA443916441CPLANE1,NIPBLc.8121C>A (p.Val2707=)
c.*65C>A (n.*65C>A)
n.2044C>A
c.21C>A (p.Val7=)
c.*575C>A (n.*575C>A)
c.7377C>A (p.Val2459=)
c.7974C>A (p.Val2658=)
c.7923C>A (p.Val2641=)
c.7740C>A (p.Val2580=)
c.7461C>A (p.Val2487=)
c.6504C>A (p.Val2168=)
c.6495C>A (p.Val2165=)
n.12084G>T
5g.37064598C=CA1539590195CPLANE1,NIPBLc.8121C= (p.Val2707=)
c.*65C= (n.*65C=)
n.2044C=
c.21C= (p.Val7=)
c.*575C= (n.*575C=)
c.7377C= (p.Val2459=)
c.7974C= (p.Val2658=)
c.7923C= (p.Val2641=)
c.7740C= (p.Val2580=)
c.7461C= (p.Val2487=)
c.6504C= (p.Val2168=)
c.6495C= (p.Val2165=)
n.12084G=
5g.37064598C>GCA443916442CPLANE1,NIPBLc.8121C>G (p.Val2707=)
c.*65C>G (n.*65C>G)
n.2044C>G
c.21C>G (p.Val7=)
c.*575C>G (n.*575C>G)
c.7377C>G (p.Val2459=)
c.7974C>G (p.Val2658=)
c.7923C>G (p.Val2641=)
c.7740C>G (p.Val2580=)
c.7461C>G (p.Val2487=)
c.6504C>G (p.Val2168=)
c.6495C>G (p.Val2165=)
n.12084G>C
5g.37064598C>TCA443916444CPLANE1,NIPBLc.8121C>T (p.Val2707=)
c.*65C>T (n.*65C>T)
n.2044C>T
c.21C>T (p.Val7=)
c.*575C>T (n.*575C>T)
c.7377C>T (p.Val2459=)
c.7974C>T (p.Val2658=)
c.7923C>T (p.Val2641=)
c.7740C>T (p.Val2580=)
c.7461C>T (p.Val2487=)
c.6504C>T (p.Val2168=)
c.6495C>T (p.Val2165=)
n.12084G>A
 dbSNP
5g.37064599A>CCA359522183CPLANE1,NIPBLc.8122A>C (p.Met2708Leu)
c.*66A>C (n.*66A>C)
n.2045A>C
c.22A>C (p.Met8Leu)
c.*576A>C (n.*576A>C)
c.7378A>C (p.Met2460Leu)
c.7975A>C (p.Met2659Leu)
c.7924A>C (p.Met2642Leu)
c.7741A>C (p.Met2581Leu)
c.7462A>C (p.Met2488Leu)
c.6505A>C (p.Met2169Leu)
c.6496A>C (p.Met2166Leu)
n.12083T>G
5g.37064599A>GCA359522185CPLANE1,NIPBLc.8122A>G (p.Met2708Val)
c.*66A>G (n.*66A>G)
n.2045A>G
c.22A>G (p.Met8Val)
c.*576A>G (n.*576A>G)
c.7378A>G (p.Met2460Val)
c.7975A>G (p.Met2659Val)
c.7924A>G (p.Met2642Val)
c.7741A>G (p.Met2581Val)
c.7462A>G (p.Met2488Val)
c.6505A>G (p.Met2169Val)
c.6496A>G (p.Met2166Val)
n.12083T>C
5g.37064599A>TCA359522187CPLANE1,NIPBLc.8122A>T (p.Met2708Leu)
c.*66A>T (n.*66A>T)
n.2045A>T
c.22A>T (p.Met8Leu)
c.*576A>T (n.*576A>T)
c.7378A>T (p.Met2460Leu)
c.7975A>T (p.Met2659Leu)
c.7924A>T (p.Met2642Leu)
c.7741A>T (p.Met2581Leu)
c.7462A>T (p.Met2488Leu)
c.6505A>T (p.Met2169Leu)
c.6496A>T (p.Met2166Leu)
n.12083T>A
5g.37064600T>ACA359522193CPLANE1,NIPBLc.8123T>A (p.Met2708Lys)
c.*67T>A (n.*67T>A)
n.2046T>A
c.23T>A (p.Met8Lys)
c.*577T>A (n.*577T>A)
c.7379T>A (p.Met2460Lys)
c.7976T>A (p.Met2659Lys)
c.7925T>A (p.Met2642Lys)
c.7742T>A (p.Met2581Lys)
c.7463T>A (p.Met2488Lys)
c.6506T>A (p.Met2169Lys)
c.6497T>A (p.Met2166Lys)
n.12082A>T
5g.37064600T>CCA3237340CPLANE1,NIPBLc.8123T>C (p.Met2708Thr)
c.*67T>C (n.*67T>C)
n.2046T>C
c.23T>C (p.Met8Thr)
c.*577T>C (n.*577T>C)
c.7379T>C (p.Met2460Thr)
c.7976T>C (p.Met2659Thr)
c.7925T>C (p.Met2642Thr)
c.7742T>C (p.Met2581Thr)
c.7463T>C (p.Met2488Thr)
c.6506T>C (p.Met2169Thr)
c.6497T>C (p.Met2166Thr)
n.12082A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37064600T>GCA3237339CPLANE1,NIPBLc.8123T>G (p.Met2708Arg)
c.*67T>G (n.*67T>G)
n.2046T>G
c.23T>G (p.Met8Arg)
c.*577T>G (n.*577T>G)
c.7379T>G (p.Met2460Arg)
c.7976T>G (p.Met2659Arg)
c.7925T>G (p.Met2642Arg)
c.7742T>G (p.Met2581Arg)
c.7463T>G (p.Met2488Arg)
c.6506T>G (p.Met2169Arg)
c.6497T>G (p.Met2166Arg)
n.12082A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.37064600T=CA1539590199CPLANE1,NIPBLc.8123T= (p.Met2708=)
c.*67T= (n.*67T=)
n.2046T=
c.23T= (p.Met8=)
c.*577T= (n.*577T=)
c.7379T= (p.Met2460=)
c.7976T= (p.Met2659=)
c.7925T= (p.Met2642=)
c.7742T= (p.Met2581=)
c.7463T= (p.Met2488=)
c.6506T= (p.Met2169=)
c.6497T= (p.Met2166=)
n.12082A=
5g.37064601G>ACA359522196CPLANE1,NIPBLc.8124G>A (p.Met2708Ile)
c.*68G>A (n.*68G>A)
n.2047G>A
c.24G>A (p.Met8Ile)
c.*578G>A (n.*578G>A)
c.7380G>A (p.Met2460Ile)
c.7977G>A (p.Met2659Ile)
c.7926G>A (p.Met2642Ile)
c.7743G>A (p.Met2581Ile)
c.7464G>A (p.Met2488Ile)
c.6507G>A (p.Met2169Ile)
c.6498G>A (p.Met2166Ile)
n.12081C>T
 dbSNP gnomAD v3 gnomAD v4
5g.37064601G>CCA359522197CPLANE1,NIPBLc.8124G>C (p.Met2708Ile)
c.*68G>C (n.*68G>C)
n.2047G>C
c.24G>C (p.Met8Ile)
c.*578G>C (n.*578G>C)
c.7380G>C (p.Met2460Ile)
c.7977G>C (p.Met2659Ile)
c.7926G>C (p.Met2642Ile)
c.7743G>C (p.Met2581Ile)
c.7464G>C (p.Met2488Ile)
c.6507G>C (p.Met2169Ile)
c.6498G>C (p.Met2166Ile)
n.12081C>G
5g.37064601G=CA1539590207CPLANE1,NIPBLc.8124G= (p.Met2708=)
c.*68G= (n.*68G=)
n.2047G=
c.24G= (p.Met8=)
c.*578G= (n.*578G=)
c.7380G= (p.Met2460=)
c.7977G= (p.Met2659=)
c.7926G= (p.Met2642=)
c.7743G= (p.Met2581=)
c.7464G= (p.Met2488=)
c.6507G= (p.Met2169=)
c.6498G= (p.Met2166=)
n.12081C=
5g.37064601G>TCA359522199CPLANE1,NIPBLc.8124G>T (p.Met2708Ile)
c.*68G>T (n.*68G>T)
n.2047G>T
c.24G>T (p.Met8Ile)
c.*578G>T (n.*578G>T)
c.7380G>T (p.Met2460Ile)
c.7977G>T (p.Met2659Ile)
c.7926G>T (p.Met2642Ile)
c.7743G>T (p.Met2581Ile)
c.7464G>T (p.Met2488Ile)
c.6507G>T (p.Met2169Ile)
c.6498G>T (p.Met2166Ile)
n.12081C>A
5g.37064602G>ACA359522205CPLANE1,NIPBLc.8125G>A (p.Asp2709Asn)
c.*69G>A (n.*69G>A)
n.2048G>A
c.25G>A (p.Asp9Asn)
c.*579G>A (n.*579G>A)
c.7381G>A (p.Asp2461Asn)
c.7978G>A (p.Asp2660Asn)
c.7927G>A (p.Asp2643Asn)
c.7744G>A (p.Asp2582Asn)
c.7465G>A (p.Asp2489Asn)
c.6508G>A (p.Asp2170Asn)
c.6499G>A (p.Asp2167Asn)
n.12080C>T
5g.37064602G>CCA359522208CPLANE1,NIPBLc.8125G>C (p.Asp2709His)
c.*69G>C (n.*69G>C)
n.2048G>C
c.25G>C (p.Asp9His)
c.*579G>C (n.*579G>C)
c.7381G>C (p.Asp2461His)
c.7978G>C (p.Asp2660His)
c.7927G>C (p.Asp2643His)
c.7744G>C (p.Asp2582His)
c.7465G>C (p.Asp2489His)
c.6508G>C (p.Asp2170His)
c.6499G>C (p.Asp2167His)
n.12080C>G
5g.37064602G>TCA359522210CPLANE1,NIPBLc.8125G>T (p.Asp2709Tyr)
c.*69G>T (n.*69G>T)
n.2048G>T
c.25G>T (p.Asp9Tyr)
c.*579G>T (n.*579G>T)
c.7381G>T (p.Asp2461Tyr)
c.7978G>T (p.Asp2660Tyr)
c.7927G>T (p.Asp2643Tyr)
c.7744G>T (p.Asp2582Tyr)
c.7465G>T (p.Asp2489Tyr)
c.6508G>T (p.Asp2170Tyr)
c.6499G>T (p.Asp2167Tyr)
n.12080C>A
5g.37064603A>CCA359522214CPLANE1,NIPBLc.8126A>C (p.Asp2709Ala)
c.*70A>C (n.*70A>C)
n.2049A>C
c.26A>C (p.Asp9Ala)
c.*580A>C (n.*580A>C)
c.7382A>C (p.Asp2461Ala)
c.7979A>C (p.Asp2660Ala)
c.7928A>C (p.Asp2643Ala)
c.7745A>C (p.Asp2582Ala)
c.7466A>C (p.Asp2489Ala)
c.6509A>C (p.Asp2170Ala)
c.6500A>C (p.Asp2167Ala)
n.12079T>G
5g.37064603A>GCA359522215CPLANE1,NIPBLc.8126A>G (p.Asp2709Gly)
c.*70A>G (n.*70A>G)
n.2049A>G
c.26A>G (p.Asp9Gly)
c.*580A>G (n.*580A>G)
c.7382A>G (p.Asp2461Gly)
c.7979A>G (p.Asp2660Gly)
c.7928A>G (p.Asp2643Gly)
c.7745A>G (p.Asp2582Gly)
c.7466A>G (p.Asp2489Gly)
c.6509A>G (p.Asp2170Gly)
c.6500A>G (p.Asp2167Gly)
n.12079T>C
5g.37064603A>TCA359522217CPLANE1,NIPBLc.8126A>T (p.Asp2709Val)
c.*70A>T (n.*70A>T)
n.2049A>T
c.26A>T (p.Asp9Val)
c.*580A>T (n.*580A>T)
c.7382A>T (p.Asp2461Val)
c.7979A>T (p.Asp2660Val)
c.7928A>T (p.Asp2643Val)
c.7745A>T (p.Asp2582Val)
c.7466A>T (p.Asp2489Val)
c.6509A>T (p.Asp2170Val)
c.6500A>T (p.Asp2167Val)
n.12079T>A
5g.37064604T>ACA359522219CPLANE1,NIPBLc.8127T>A (p.Asp2709Glu)
c.*71T>A (n.*71T>A)
n.2050T>A
c.27T>A (p.Asp9Glu)
c.*581T>A (n.*581T>A)
c.7383T>A (p.Asp2461Glu)
c.7980T>A (p.Asp2660Glu)
c.7929T>A (p.Asp2643Glu)
c.7746T>A (p.Asp2582Glu)
c.7467T>A (p.Asp2489Glu)
c.6510T>A (p.Asp2170Glu)
c.6501T>A (p.Asp2167Glu)
n.12078A>T
5g.37064604T>CCA443916452CPLANE1,NIPBLc.8127T>C (p.Asp2709=)
c.*71T>C (n.*71T>C)
n.2050T>C
c.27T>C (p.Asp9=)
c.*581T>C (n.*581T>C)
c.7383T>C (p.Asp2461=)
c.7980T>C (p.Asp2660=)
c.7929T>C (p.Asp2643=)
c.7746T>C (p.Asp2582=)
c.7467T>C (p.Asp2489=)
c.6510T>C (p.Asp2170=)
c.6501T>C (p.Asp2167=)
n.12078A>G
5g.37064604T>GCA359522220CPLANE1,NIPBLc.8127T>G (p.Asp2709Glu)
c.*71T>G (n.*71T>G)
n.2050T>G
c.27T>G (p.Asp9Glu)
c.*581T>G (n.*581T>G)
c.7383T>G (p.Asp2461Glu)
c.7980T>G (p.Asp2660Glu)
c.7929T>G (p.Asp2643Glu)
c.7746T>G (p.Asp2582Glu)
c.7467T>G (p.Asp2489Glu)
c.6510T>G (p.Asp2170Glu)
c.6501T>G (p.Asp2167Glu)
n.12078A>C
5g.37064605G>ACA359522221CPLANE1,NIPBLc.8128G>A (p.Val2710Ile)
c.*72G>A (n.*72G>A)
n.2051G>A
c.28G>A (p.Val10Ile)
c.*582G>A (n.*582G>A)
c.7384G>A (p.Val2462Ile)
c.7981G>A (p.Val2661Ile)
c.7930G>A (p.Val2644Ile)
c.7747G>A (p.Val2583Ile)
c.7468G>A (p.Val2490Ile)
c.6511G>A (p.Val2171Ile)
c.6502G>A (p.Val2168Ile)
n.12077C>T
5g.37064605G>CCA359522223CPLANE1,NIPBLc.8128G>C (p.Val2710Leu)
c.*72G>C (n.*72G>C)
n.2051G>C
c.28G>C (p.Val10Leu)
c.*582G>C (n.*582G>C)
c.7384G>C (p.Val2462Leu)
c.7981G>C (p.Val2661Leu)
c.7930G>C (p.Val2644Leu)
c.7747G>C (p.Val2583Leu)
c.7468G>C (p.Val2490Leu)
c.6511G>C (p.Val2171Leu)
c.6502G>C (p.Val2168Leu)
n.12077C>G
5g.37064605G>TCA359522222CPLANE1,NIPBLc.8128G>T (p.Val2710Phe)
c.*72G>T (n.*72G>T)
n.2051G>T
c.28G>T (p.Val10Phe)
c.*582G>T (n.*582G>T)
c.7384G>T (p.Val2462Phe)
c.7981G>T (p.Val2661Phe)
c.7930G>T (p.Val2644Phe)
c.7747G>T (p.Val2583Phe)
c.7468G>T (p.Val2490Phe)
c.6511G>T (p.Val2171Phe)
c.6502G>T (p.Val2168Phe)
n.12077C>A
5g.37064606T>ACA359522225CPLANE1,NIPBLc.8129T>A (p.Val2710Asp)
c.*73T>A (n.*73T>A)
n.2052T>A
c.29T>A (p.Val10Asp)
c.*583T>A (n.*583T>A)
c.7385T>A (p.Val2462Asp)
c.7982T>A (p.Val2661Asp)
c.7931T>A (p.Val2644Asp)
c.7748T>A (p.Val2583Asp)
c.7469T>A (p.Val2490Asp)
c.6512T>A (p.Val2171Asp)
c.6503T>A (p.Val2168Asp)
n.12076A>T
5g.37064606T>CCA359522229CPLANE1,NIPBLc.8129T>C (p.Val2710Ala)
c.*73T>C (n.*73T>C)
n.2052T>C
c.29T>C (p.Val10Ala)
c.*583T>C (n.*583T>C)
c.7385T>C (p.Val2462Ala)
c.7982T>C (p.Val2661Ala)
c.7931T>C (p.Val2644Ala)
c.7748T>C (p.Val2583Ala)
c.7469T>C (p.Val2490Ala)
c.6512T>C (p.Val2171Ala)
c.6503T>C (p.Val2168Ala)
n.12076A>G
5g.37064606T>GCA359522227CPLANE1,NIPBLc.8129T>G (p.Val2710Gly)
c.*73T>G (n.*73T>G)
n.2052T>G
c.29T>G (p.Val10Gly)
c.*583T>G (n.*583T>G)
c.7385T>G (p.Val2462Gly)
c.7982T>G (p.Val2661Gly)
c.7931T>G (p.Val2644Gly)
c.7748T>G (p.Val2583Gly)
c.7469T>G (p.Val2490Gly)
c.6512T>G (p.Val2171Gly)
c.6503T>G (p.Val2168Gly)
n.12076A>C
5g.37064607C>ACA443916458CPLANE1,NIPBLc.8130C>A (p.Val2710=)
c.*74C>A (n.*74C>A)
n.2053C>A
c.30C>A (p.Val10=)
c.*584C>A (n.*584C>A)
c.7386C>A (p.Val2462=)
c.7983C>A (p.Val2661=)
c.7932C>A (p.Val2644=)
c.7749C>A (p.Val2583=)
c.7470C>A (p.Val2490=)
c.6513C>A (p.Val2171=)
c.6504C>A (p.Val2168=)
n.12075G>T
5g.37064607C=CA1539590216CPLANE1,NIPBLc.8130C= (p.Val2710=)
c.*74C= (n.*74C=)
n.2053C=
c.30C= (p.Val10=)
c.*584C= (n.*584C=)
c.7386C= (p.Val2462=)
c.7983C= (p.Val2661=)
c.7932C= (p.Val2644=)
c.7749C= (p.Val2583=)
c.7470C= (p.Val2490=)
c.6513C= (p.Val2171=)
c.6504C= (p.Val2168=)
n.12075G=
5g.37064607C>GCA443916461CPLANE1,NIPBLc.8130C>G (p.Val2710=)
c.*74C>G (n.*74C>G)
n.2053C>G
c.30C>G (p.Val10=)
c.*584C>G (n.*584C>G)
c.7386C>G (p.Val2462=)
c.7983C>G (p.Val2661=)
c.7932C>G (p.Val2644=)
c.7749C>G (p.Val2583=)
c.7470C>G (p.Val2490=)
c.6513C>G (p.Val2171=)
c.6504C>G (p.Val2168=)
n.12075G>C
 dbSNP gnomAD v3 gnomAD v4
5g.37064607C>TCA443916460CPLANE1,NIPBLc.8130C>T (p.Val2710=)
c.*74C>T (n.*74C>T)
n.2053C>T
c.30C>T (p.Val10=)
c.*584C>T (n.*584C>T)
c.7386C>T (p.Val2462=)
c.7983C>T (p.Val2661=)
c.7932C>T (p.Val2644=)
c.7749C>T (p.Val2583=)
c.7470C>T (p.Val2490=)
c.6513C>T (p.Val2171=)
c.6504C>T (p.Val2168=)
n.12075G>A
5g.37064608A>CCA359522232CPLANE1,NIPBLc.8131A>C (p.Ile2711Leu)
c.*75A>C (n.*75A>C)
n.2054A>C
c.31A>C (p.Ile11Leu)
c.*585A>C (n.*585A>C)
c.7387A>C (p.Ile2463Leu)
c.7984A>C (p.Ile2662Leu)
c.7933A>C (p.Ile2645Leu)
c.7750A>C (p.Ile2584Leu)
c.7471A>C (p.Ile2491Leu)
c.6514A>C (p.Ile2172Leu)
c.6505A>C (p.Ile2169Leu)
n.12074T>G
5g.37064608A>GCA359522235CPLANE1,NIPBLc.8131A>G (p.Ile2711Val)
c.*75A>G (n.*75A>G)
n.2054A>G
c.31A>G (p.Ile11Val)
c.*585A>G (n.*585A>G)
c.7387A>G (p.Ile2463Val)
c.7984A>G (p.Ile2662Val)
c.7933A>G (p.Ile2645Val)
c.7750A>G (p.Ile2584Val)
c.7471A>G (p.Ile2491Val)
c.6514A>G (p.Ile2172Val)
c.6505A>G (p.Ile2169Val)
n.12074T>C
 COSMIC
5g.37064608A>TCA359522233CPLANE1,NIPBLc.8131A>T (p.Ile2711Phe)
c.*75A>T (n.*75A>T)
n.2054A>T
c.31A>T (p.Ile11Phe)
c.*585A>T (n.*585A>T)
c.7387A>T (p.Ile2463Phe)
c.7984A>T (p.Ile2662Phe)
c.7933A>T (p.Ile2645Phe)
c.7750A>T (p.Ile2584Phe)
c.7471A>T (p.Ile2491Phe)
c.6514A>T (p.Ile2172Phe)
c.6505A>T (p.Ile2169Phe)
n.12074T>A
5g.37064609T>ACA359522237CPLANE1,NIPBLc.8132T>A (p.Ile2711Asn)
c.*76T>A (n.*76T>A)
n.2055T>A
c.32T>A (p.Ile11Asn)
c.*586T>A (n.*586T>A)
c.7388T>A (p.Ile2463Asn)
c.7985T>A (p.Ile2662Asn)
c.7934T>A (p.Ile2645Asn)
c.7751T>A (p.Ile2584Asn)
c.7472T>A (p.Ile2491Asn)
c.6515T>A (p.Ile2172Asn)
c.6506T>A (p.Ile2169Asn)
n.12073A>T
5g.37064609T>CCA359522239CPLANE1,NIPBLc.8132T>C (p.Ile2711Thr)
c.*76T>C (n.*76T>C)
n.2055T>C
c.32T>C (p.Ile11Thr)
c.*586T>C (n.*586T>C)
c.7388T>C (p.Ile2463Thr)
c.7985T>C (p.Ile2662Thr)
c.7934T>C (p.Ile2645Thr)
c.7751T>C (p.Ile2584Thr)
c.7472T>C (p.Ile2491Thr)
c.6515T>C (p.Ile2172Thr)
c.6506T>C (p.Ile2169Thr)
n.12073A>G
5g.37064609T>GCA359522238CPLANE1,NIPBLc.8132T>G (p.Ile2711Ser)
c.*76T>G (n.*76T>G)
n.2055T>G
c.32T>G (p.Ile11Ser)
c.*586T>G (n.*586T>G)
c.7388T>G (p.Ile2463Ser)
c.7985T>G (p.Ile2662Ser)
c.7934T>G (p.Ile2645Ser)
c.7751T>G (p.Ile2584Ser)
c.7472T>G (p.Ile2491Ser)
c.6515T>G (p.Ile2172Ser)
c.6506T>G (p.Ile2169Ser)
n.12073A>C
5g.37064610C>ACA443916467CPLANE1,NIPBLc.8133C>A (p.Ile2711=)
c.*77C>A (n.*77C>A)
n.2056C>A
c.33C>A (p.Ile11=)
c.*587C>A (n.*587C>A)
c.7389C>A (p.Ile2463=)
c.7986C>A (p.Ile2662=)
c.7935C>A (p.Ile2645=)
c.7752C>A (p.Ile2584=)
c.7473C>A (p.Ile2491=)
c.6516C>A (p.Ile2172=)
c.6507C>A (p.Ile2169=)
n.12072G>T
5g.37064610C=CA1539590221CPLANE1,NIPBLc.8133C= (p.Ile2711=)
c.*77C= (n.*77C=)
n.2056C=
c.33C= (p.Ile11=)
c.*587C= (n.*587C=)
c.7389C= (p.Ile2463=)
c.7986C= (p.Ile2662=)
c.7935C= (p.Ile2645=)
c.7752C= (p.Ile2584=)
c.7473C= (p.Ile2491=)
c.6516C= (p.Ile2172=)
c.6507C= (p.Ile2169=)
n.12072G=
5g.37064610C>GCA359522241CPLANE1,NIPBLc.8133C>G (p.Ile2711Met)
c.*77C>G (n.*77C>G)
n.2056C>G
c.33C>G (p.Ile11Met)
c.*587C>G (n.*587C>G)
c.7389C>G (p.Ile2463Met)
c.7986C>G (p.Ile2662Met)
c.7935C>G (p.Ile2645Met)
c.7752C>G (p.Ile2584Met)
c.7473C>G (p.Ile2491Met)
c.6516C>G (p.Ile2172Met)
c.6507C>G (p.Ile2169Met)
n.12072G>C
5g.37064610C>TCA3237341CPLANE1,NIPBLc.8133C>T (p.Ile2711=)
c.*77C>T (n.*77C>T)
n.2056C>T
c.33C>T (p.Ile11=)
c.*587C>T (n.*587C>T)
c.7389C>T (p.Ile2463=)
c.7986C>T (p.Ile2662=)
c.7935C>T (p.Ile2645=)
c.7752C>T (p.Ile2584=)
c.7473C>T (p.Ile2491=)
c.6516C>T (p.Ile2172=)
c.6507C>T (p.Ile2169=)
n.12072G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.37064611G>ACA359522244CPLANE1,NIPBLc.8134G>A (p.Ala2712Thr)
c.*78G>A (n.*78G>A)
n.2057G>A
c.34G>A (p.Ala12Thr)
c.*588G>A (n.*588G>A)
c.7390G>A (p.Ala2464Thr)
c.7987G>A (p.Ala2663Thr)
c.7936G>A (p.Ala2646Thr)
c.7753G>A (p.Ala2585Thr)
c.7474G>A (p.Ala2492Thr)
c.6517G>A (p.Ala2173Thr)
c.6508G>A (p.Ala2170Thr)
n.12071C>T
 COSMIC
5g.37064611G>CCA359522246CPLANE1,NIPBLc.8134G>C (p.Ala2712Pro)
c.*78G>C (n.*78G>C)
n.2057G>C
c.34G>C (p.Ala12Pro)
c.*588G>C (n.*588G>C)
c.7390G>C (p.Ala2464Pro)
c.7987G>C (p.Ala2663Pro)
c.7936G>C (p.Ala2646Pro)
c.7753G>C (p.Ala2585Pro)
c.7474G>C (p.Ala2492Pro)
c.6517G>C (p.Ala2173Pro)
c.6508G>C (p.Ala2170Pro)
n.12071C>G
5g.37064611G>TCA359522245CPLANE1,NIPBLc.8134G>T (p.Ala2712Ser)
c.*78G>T (n.*78G>T)
n.2057G>T
c.34G>T (p.Ala12Ser)
c.*588G>T (n.*588G>T)
c.7390G>T (p.Ala2464Ser)
c.7987G>T (p.Ala2663Ser)
c.7936G>T (p.Ala2646Ser)
c.7753G>T (p.Ala2585Ser)
c.7474G>T (p.Ala2492Ser)
c.6517G>T (p.Ala2173Ser)
c.6508G>T (p.Ala2170Ser)
n.12071C>A
5g.37064612C>ACA359522247CPLANE1,NIPBLc.8135C>A (p.Ala2712Asp)
c.*79C>A (n.*79C>A)
n.2058C>A
c.35C>A (p.Ala12Asp)
c.*589C>A (n.*589C>A)
c.7391C>A (p.Ala2464Asp)
c.7988C>A (p.Ala2663Asp)
c.7937C>A (p.Ala2646Asp)
c.7754C>A (p.Ala2585Asp)
c.7475C>A (p.Ala2492Asp)
c.6518C>A (p.Ala2173Asp)
c.6509C>A (p.Ala2170Asp)
n.12070G>T
5g.37064612C=CA1539590225CPLANE1,NIPBLc.8135C= (p.Ala2712=)
c.*79C= (n.*79C=)
n.2058C=
c.35C= (p.Ala12=)
c.*589C= (n.*589C=)
c.7391C= (p.Ala2464=)
c.7988C= (p.Ala2663=)
c.7937C= (p.Ala2646=)
c.7754C= (p.Ala2585=)
c.7475C= (p.Ala2492=)
c.6518C= (p.Ala2173=)
c.6509C= (p.Ala2170=)
n.12070G=
5g.37064612C>GCA359522251CPLANE1,NIPBLc.8135C>G (p.Ala2712Gly)
c.*79C>G (n.*79C>G)
n.2058C>G
c.35C>G (p.Ala12Gly)
c.*589C>G (n.*589C>G)
c.7391C>G (p.Ala2464Gly)
c.7988C>G (p.Ala2663Gly)
c.7937C>G (p.Ala2646Gly)
c.7754C>G (p.Ala2585Gly)
c.7475C>G (p.Ala2492Gly)
c.6518C>G (p.Ala2173Gly)
c.6509C>G (p.Ala2170Gly)
n.12070G>C
 dbSNP gnomAD v3 gnomAD v4
5g.37064612C>TCA359522249CPLANE1,NIPBLc.8135C>T (p.Ala2712Val)
c.*79C>T (n.*79C>T)
n.2058C>T
c.35C>T (p.Ala12Val)
c.*589C>T (n.*589C>T)
c.7391C>T (p.Ala2464Val)
c.7988C>T (p.Ala2663Val)
c.7937C>T (p.Ala2646Val)
c.7754C>T (p.Ala2585Val)
c.7475C>T (p.Ala2492Val)
c.6518C>T (p.Ala2173Val)
c.6509C>T (p.Ala2170Val)
n.12070G>A
5g.37064613T>ACA443916480CPLANE1,NIPBLc.8136T>A (p.Ala2712=)
c.*80T>A (n.*80T>A)
n.2059T>A
c.36T>A (p.Ala12=)
c.*590T>A (n.*590T>A)
c.7392T>A (p.Ala2464=)
c.7989T>A (p.Ala2663=)
c.7938T>A (p.Ala2646=)
c.7755T>A (p.Ala2585=)
c.7476T>A (p.Ala2492=)
c.6519T>A (p.Ala2173=)
c.6510T>A (p.Ala2170=)
n.12069A>T
5g.37064613T>CCA443916481CPLANE1,NIPBLc.8136T>C (p.Ala2712=)
c.*80T>C (n.*80T>C)
n.2059T>C
c.36T>C (p.Ala12=)
c.*590T>C (n.*590T>C)
c.7392T>C (p.Ala2464=)
c.7989T>C (p.Ala2663=)
c.7938T>C (p.Ala2646=)
c.7755T>C (p.Ala2585=)
c.7476T>C (p.Ala2492=)
c.6519T>C (p.Ala2173=)
c.6510T>C (p.Ala2170=)
n.12069A>G
5g.37064613T>GCA443916482CPLANE1,NIPBLc.8136T>G (p.Ala2712=)
c.*80T>G (n.*80T>G)
n.2059T>G
c.36T>G (p.Ala12=)
c.*590T>G (n.*590T>G)
c.7392T>G (p.Ala2464=)
c.7989T>G (p.Ala2663=)
c.7938T>G (p.Ala2646=)
c.7755T>G (p.Ala2585=)
c.7476T>G (p.Ala2492=)
c.6519T>G (p.Ala2173=)
c.6510T>G (p.Ala2170=)
n.12069A>C
5g.37064614A=CA1539590232CPLANE1,NIPBLc.8137A= (p.Ile2713=)
c.*81A= (n.*81A=)
n.2060A=
c.37A= (p.Ile13=)
c.*591A= (n.*591A=)
c.7393A= (p.Ile2465=)
c.7990A= (p.Ile2664=)
c.7939A= (p.Ile2647=)
c.7756A= (p.Ile2586=)
c.7477A= (p.Ile2493=)
c.6520A= (p.Ile2174=)
c.6511A= (p.Ile2171=)
n.12068T=
5g.37064614A>CCA3237342CPLANE1,NIPBLc.8137A>C (p.Ile2713Leu)
c.*81A>C (n.*81A>C)
n.2060A>C
c.37A>C (p.Ile13Leu)
c.*591A>C (n.*591A>C)
c.7393A>C (p.Ile2465Leu)
c.7990A>C (p.Ile2664Leu)
c.7939A>C (p.Ile2647Leu)
c.7756A>C (p.Ile2586Leu)
c.7477A>C (p.Ile2493Leu)
c.6520A>C (p.Ile2174Leu)
c.6511A>C (p.Ile2171Leu)
n.12068T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37064614A>GCA359522255CPLANE1,NIPBLc.8137A>G (p.Ile2713Val)
c.*81A>G (n.*81A>G)
n.2060A>G
c.37A>G (p.Ile13Val)
c.*591A>G (n.*591A>G)
c.7393A>G (p.Ile2465Val)
c.7990A>G (p.Ile2664Val)
c.7939A>G (p.Ile2647Val)
c.7756A>G (p.Ile2586Val)
c.7477A>G (p.Ile2493Val)
c.6520A>G (p.Ile2174Val)
c.6511A>G (p.Ile2171Val)
n.12068T>C
 dbSNP gnomAD v3 gnomAD v4
5g.37064614A>TCA359522256CPLANE1,NIPBLc.8137A>T (p.Ile2713Phe)
c.*81A>T (n.*81A>T)
n.2060A>T
c.37A>T (p.Ile13Phe)
c.*591A>T (n.*591A>T)
c.7393A>T (p.Ile2465Phe)
c.7990A>T (p.Ile2664Phe)
c.7939A>T (p.Ile2647Phe)
c.7756A>T (p.Ile2586Phe)
c.7477A>T (p.Ile2493Phe)
c.6520A>T (p.Ile2174Phe)
c.6511A>T (p.Ile2171Phe)
n.12068T>A
5g.37064614dupCA2695204372CPLANE1,NIPBLc.8137dup (p.Ile2713AsnfsTer?)
c.*81dup (n.*81dup)
n.2060dup
c.37dup (p.Ile13AsnfsTer?)
c.*591dup (n.*591dup)
c.7393dup (p.Ile2465AsnfsTer?)
c.7990dup (p.Ile2664AsnfsTer?)
c.7939dup (p.Ile2647AsnfsTer?)
c.7756dup (p.Ile2586AsnfsTer?)
c.7477dup (p.Ile2493AsnfsTer?)
c.6520dup (p.Ile2174AsnfsTer?)
c.6511dup (p.Ile2171AsnfsTer?)
n.12068dup
5g.37064615T>ACA359522257CPLANE1,NIPBLc.8138T>A (p.Ile2713Asn)
c.*82T>A (n.*82T>A)
n.2061T>A
c.38T>A (p.Ile13Asn)
c.*592T>A (n.*592T>A)
c.7394T>A (p.Ile2465Asn)
c.7991T>A (p.Ile2664Asn)
c.7940T>A (p.Ile2647Asn)
c.7757T>A (p.Ile2586Asn)
c.7478T>A (p.Ile2493Asn)
c.6521T>A (p.Ile2174Asn)
c.6512T>A (p.Ile2171Asn)
n.12067A>T
5g.37064615T>CCA359522258CPLANE1,NIPBLc.8138T>C (p.Ile2713Thr)
c.*82T>C (n.*82T>C)
n.2061T>C
c.38T>C (p.Ile13Thr)
c.*592T>C (n.*592T>C)
c.7394T>C (p.Ile2465Thr)
c.7991T>C (p.Ile2664Thr)
c.7940T>C (p.Ile2647Thr)
c.7757T>C (p.Ile2586Thr)
c.7478T>C (p.Ile2493Thr)
c.6521T>C (p.Ile2174Thr)
c.6512T>C (p.Ile2171Thr)
n.12067A>G
5g.37064615T>GCA359522259CPLANE1,NIPBLc.8138T>G (p.Ile2713Ser)
c.*82T>G (n.*82T>G)
n.2061T>G
c.38T>G (p.Ile13Ser)
c.*592T>G (n.*592T>G)
c.7394T>G (p.Ile2465Ser)
c.7991T>G (p.Ile2664Ser)
c.7940T>G (p.Ile2647Ser)
c.7757T>G (p.Ile2586Ser)
c.7478T>G (p.Ile2493Ser)
c.6521T>G (p.Ile2174Ser)
c.6512T>G (p.Ile2171Ser)
n.12067A>C
5g.37064616T>ACA443916486CPLANE1,NIPBLc.8139T>A (p.Ile2713=)
c.*83T>A (n.*83T>A)
n.2062T>A
c.39T>A (p.Ile13=)
c.*593T>A (n.*593T>A)
c.7395T>A (p.Ile2465=)
c.7992T>A (p.Ile2664=)
c.7941T>A (p.Ile2647=)
c.7758T>A (p.Ile2586=)
c.7479T>A (p.Ile2493=)
c.6522T>A (p.Ile2174=)
c.6513T>A (p.Ile2171=)
n.12066A>T
5g.37064616T>CCA443916487CPLANE1,NIPBLc.8139T>C (p.Ile2713=)
c.*83T>C (n.*83T>C)
n.2062T>C
c.39T>C (p.Ile13=)
c.*593T>C (n.*593T>C)
c.7395T>C (p.Ile2465=)
c.7992T>C (p.Ile2664=)
c.7941T>C (p.Ile2647=)
c.7758T>C (p.Ile2586=)
c.7479T>C (p.Ile2493=)
c.6522T>C (p.Ile2174=)
c.6513T>C (p.Ile2171=)
n.12066A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37064616T>GCA359522260CPLANE1,NIPBLc.8139T>G (p.Ile2713Met)
c.*83T>G (n.*83T>G)
n.2062T>G
c.39T>G (p.Ile13Met)
c.*593T>G (n.*593T>G)
c.7395T>G (p.Ile2465Met)
c.7992T>G (p.Ile2664Met)
c.7941T>G (p.Ile2647Met)
c.7758T>G (p.Ile2586Met)
c.7479T>G (p.Ile2493Met)
c.6522T>G (p.Ile2174Met)
c.6513T>G (p.Ile2171Met)
n.12066A>C
5g.37064616T=CA1539590247CPLANE1,NIPBLc.8139T= (p.Ile2713=)
c.*83T= (n.*83T=)
n.2062T=
c.39T= (p.Ile13=)
c.*593T= (n.*593T=)
c.7395T= (p.Ile2465=)
c.7992T= (p.Ile2664=)
c.7941T= (p.Ile2647=)
c.7758T= (p.Ile2586=)
c.7479T= (p.Ile2493=)
c.6522T= (p.Ile2174=)
c.6513T= (p.Ile2171=)
n.12066A=
5g.37064617T>ACA359522265CPLANE1,NIPBLc.8140T>A (p.Cys2714Ser)
c.*84T>A (n.*84T>A)
n.2063T>A
c.40T>A (p.Cys14Ser)
c.*594T>A (n.*594T>A)
c.7396T>A (p.Cys2466Ser)
c.7993T>A (p.Cys2665Ser)
c.7942T>A (p.Cys2648Ser)
c.7759T>A (p.Cys2587Ser)
c.7480T>A (p.Cys2494Ser)
c.6523T>A (p.Cys2175Ser)
c.6514T>A (p.Cys2172Ser)
n.12065A>T
5g.37064617T>CCA359522262CPLANE1,NIPBLc.8140T>C (p.Cys2714Arg)
c.*84T>C (n.*84T>C)
n.2063T>C
c.40T>C (p.Cys14Arg)
c.*594T>C (n.*594T>C)
c.7396T>C (p.Cys2466Arg)
c.7993T>C (p.Cys2665Arg)
c.7942T>C (p.Cys2648Arg)
c.7759T>C (p.Cys2587Arg)
c.7480T>C (p.Cys2494Arg)
c.6523T>C (p.Cys2175Arg)
c.6514T>C (p.Cys2172Arg)
n.12065A>G
5g.37064617T>GCA359522264CPLANE1,NIPBLc.8140T>G (p.Cys2714Gly)
c.*84T>G (n.*84T>G)
n.2063T>G
c.40T>G (p.Cys14Gly)
c.*594T>G (n.*594T>G)
c.7396T>G (p.Cys2466Gly)
c.7993T>G (p.Cys2665Gly)
c.7942T>G (p.Cys2648Gly)
c.7759T>G (p.Cys2587Gly)
c.7480T>G (p.Cys2494Gly)
c.6523T>G (p.Cys2175Gly)
c.6514T>G (p.Cys2172Gly)
n.12065A>C
5g.37064618G>ACA359522266CPLANE1,NIPBLc.8141G>A (p.Cys2714Tyr)
c.*85G>A (n.*85G>A)
n.2064G>A
c.41G>A (p.Cys14Tyr)
c.*595G>A (n.*595G>A)
c.7397G>A (p.Cys2466Tyr)
c.7994G>A (p.Cys2665Tyr)
c.7943G>A (p.Cys2648Tyr)
c.7760G>A (p.Cys2587Tyr)
c.7481G>A (p.Cys2494Tyr)
c.6524G>A (p.Cys2175Tyr)
c.6515G>A (p.Cys2172Tyr)
n.12064C>T
5g.37064618G>CCA359522268CPLANE1,NIPBLc.8141G>C (p.Cys2714Ser)
c.*85G>C (n.*85G>C)
n.2064G>C
c.41G>C (p.Cys14Ser)
c.*595G>C (n.*595G>C)
c.7397G>C (p.Cys2466Ser)
c.7994G>C (p.Cys2665Ser)
c.7943G>C (p.Cys2648Ser)
c.7760G>C (p.Cys2587Ser)
c.7481G>C (p.Cys2494Ser)
c.6524G>C (p.Cys2175Ser)
c.6515G>C (p.Cys2172Ser)
n.12064C>G
5g.37064618G>TCA359522270CPLANE1,NIPBLc.8141G>T (p.Cys2714Phe)
c.*85G>T (n.*85G>T)
n.2064G>T
c.41G>T (p.Cys14Phe)
c.*595G>T (n.*595G>T)
c.7397G>T (p.Cys2466Phe)
c.7994G>T (p.Cys2665Phe)
c.7943G>T (p.Cys2648Phe)
c.7760G>T (p.Cys2587Phe)
c.7481G>T (p.Cys2494Phe)
c.6524G>T (p.Cys2175Phe)
c.6515G>T (p.Cys2172Phe)
n.12064C>A
5g.37064619C>ACA359522274CPLANE1,NIPBLc.8142C>A (p.Cys2714Ter)
c.*86C>A (n.*86C>A)
n.2065C>A
c.42C>A (p.Cys14Ter)
c.*596C>A (n.*596C>A)
c.7398C>A (p.Cys2466Ter)
c.7995C>A (p.Cys2665Ter)
c.7944C>A (p.Cys2648Ter)
c.7761C>A (p.Cys2587Ter)
c.7482C>A (p.Cys2494Ter)
c.6525C>A (p.Cys2175Ter)
c.6516C>A (p.Cys2172Ter)
n.12063G>T
5g.37064619C>GCA359522275CPLANE1,NIPBLc.8142C>G (p.Cys2714Trp)
c.*86C>G (n.*86C>G)
n.2065C>G
c.42C>G (p.Cys14Trp)
c.*596C>G (n.*596C>G)
c.7398C>G (p.Cys2466Trp)
c.7995C>G (p.Cys2665Trp)
c.7944C>G (p.Cys2648Trp)
c.7761C>G (p.Cys2587Trp)
c.7482C>G (p.Cys2494Trp)
c.6525C>G (p.Cys2175Trp)
c.6516C>G (p.Cys2172Trp)
n.12063G>C
5g.37064619C>TCA443916492CPLANE1,NIPBLc.8142C>T (p.Cys2714=)
c.*86C>T (n.*86C>T)
n.2065C>T
c.42C>T (p.Cys14=)
c.*596C>T (n.*596C>T)
c.7398C>T (p.Cys2466=)
c.7995C>T (p.Cys2665=)
c.7944C>T (p.Cys2648=)
c.7761C>T (p.Cys2587=)
c.7482C>T (p.Cys2494=)
c.6525C>T (p.Cys2175=)
c.6516C>T (p.Cys2172=)
n.12063G>A
5g.37064620T>ACA359522281CPLANE1,NIPBLc.8143T>A (p.Cys2715Ser)
c.*87T>A (n.*87T>A)
n.2066T>A
c.43T>A (p.Cys15Ser)
c.*597T>A (n.*597T>A)
c.7399T>A (p.Cys2467Ser)
c.7996T>A (p.Cys2666Ser)
c.7945T>A (p.Cys2649Ser)
c.7762T>A (p.Cys2588Ser)
c.7483T>A (p.Cys2495Ser)
c.6526T>A (p.Cys2176Ser)
c.6517T>A (p.Cys2173Ser)
n.12062A>T
5g.37064620T>CCA359522277CPLANE1,NIPBLc.8143T>C (p.Cys2715Arg)
c.*87T>C (n.*87T>C)
n.2066T>C
c.43T>C (p.Cys15Arg)
c.*597T>C (n.*597T>C)
c.7399T>C (p.Cys2467Arg)
c.7996T>C (p.Cys2666Arg)
c.7945T>C (p.Cys2649Arg)
c.7762T>C (p.Cys2588Arg)
c.7483T>C (p.Cys2495Arg)
c.6526T>C (p.Cys2176Arg)
c.6517T>C (p.Cys2173Arg)
n.12062A>G
5g.37064620T>GCA359522279CPLANE1,NIPBLc.8143T>G (p.Cys2715Gly)
c.*87T>G (n.*87T>G)
n.2066T>G
c.43T>G (p.Cys15Gly)
c.*597T>G (n.*597T>G)
c.7399T>G (p.Cys2467Gly)
c.7996T>G (p.Cys2666Gly)
c.7945T>G (p.Cys2649Gly)
c.7762T>G (p.Cys2588Gly)
c.7483T>G (p.Cys2495Gly)
c.6526T>G (p.Cys2176Gly)
c.6517T>G (p.Cys2173Gly)
n.12062A>C
5g.37064621G>ACA359522283CPLANE1,NIPBLc.8144G>A (p.Cys2715Tyr)
c.*88G>A (n.*88G>A)
n.2067G>A
c.44G>A (p.Cys15Tyr)
c.*598G>A (n.*598G>A)
c.7400G>A (p.Cys2467Tyr)
c.7997G>A (p.Cys2666Tyr)
c.7946G>A (p.Cys2649Tyr)
c.7763G>A (p.Cys2588Tyr)
c.7484G>A (p.Cys2495Tyr)
c.6527G>A (p.Cys2176Tyr)
c.6518G>A (p.Cys2173Tyr)
n.12061C>T
 gnomAD v4
5g.37064621G>CCA359522285CPLANE1,NIPBLc.8144G>C (p.Cys2715Ser)
c.*88G>C (n.*88G>C)
n.2067G>C
c.44G>C (p.Cys15Ser)
c.*598G>C (n.*598G>C)
c.7400G>C (p.Cys2467Ser)
c.7997G>C (p.Cys2666Ser)
c.7946G>C (p.Cys2649Ser)
c.7763G>C (p.Cys2588Ser)
c.7484G>C (p.Cys2495Ser)
c.6527G>C (p.Cys2176Ser)
c.6518G>C (p.Cys2173Ser)
n.12061C>G
5g.37064621G>TCA359522286CPLANE1,NIPBLc.8144G>T (p.Cys2715Phe)
c.*88G>T (n.*88G>T)
n.2067G>T
c.44G>T (p.Cys15Phe)
c.*598G>T (n.*598G>T)
c.7400G>T (p.Cys2467Phe)
c.7997G>T (p.Cys2666Phe)
c.7946G>T (p.Cys2649Phe)
c.7763G>T (p.Cys2588Phe)
c.7484G>T (p.Cys2495Phe)
c.6527G>T (p.Cys2176Phe)
c.6518G>T (p.Cys2173Phe)
n.12061C>A
5g.37064622T>ACA359522287CPLANE1,NIPBLc.8145T>A (p.Cys2715Ter)
c.*89T>A (n.*89T>A)
n.2068T>A
c.45T>A (p.Cys15Ter)
c.*599T>A (n.*599T>A)
c.7401T>A (p.Cys2467Ter)
c.7998T>A (p.Cys2666Ter)
c.7947T>A (p.Cys2649Ter)
c.7764T>A (p.Cys2588Ter)
c.7485T>A (p.Cys2495Ter)
c.6528T>A (p.Cys2176Ter)
c.6519T>A (p.Cys2173Ter)
n.12060A>T
5g.37064622T>CCA443916499CPLANE1,NIPBLc.8145T>C (p.Cys2715=)
c.*89T>C (n.*89T>C)
n.2068T>C
c.45T>C (p.Cys15=)
c.*599T>C (n.*599T>C)
c.7401T>C (p.Cys2467=)
c.7998T>C (p.Cys2666=)
c.7947T>C (p.Cys2649=)
c.7764T>C (p.Cys2588=)
c.7485T>C (p.Cys2495=)
c.6528T>C (p.Cys2176=)
c.6519T>C (p.Cys2173=)
n.12060A>G
5g.37064622T>GCA359522289CPLANE1,NIPBLc.8145T>G (p.Cys2715Trp)
c.*89T>G (n.*89T>G)
n.2068T>G
c.45T>G (p.Cys15Trp)
c.*599T>G (n.*599T>G)
c.7401T>G (p.Cys2467Trp)
c.7998T>G (p.Cys2666Trp)
c.7947T>G (p.Cys2649Trp)
c.7764T>G (p.Cys2588Trp)
c.7485T>G (p.Cys2495Trp)
c.6528T>G (p.Cys2176Trp)
c.6519T>G (p.Cys2173Trp)
n.12060A>C
5g.37064623C>ACA359522297CPLANE1,NIPBLc.8146C>A (p.Pro2716Thr)
c.*90C>A (n.*90C>A)
n.2069C>A
c.46C>A (p.Pro16Thr)
c.*600C>A (n.*600C>A)
c.7402C>A (p.Pro2468Thr)
c.7999C>A (p.Pro2667Thr)
c.7948C>A (p.Pro2650Thr)
c.7765C>A (p.Pro2589Thr)
c.7486C>A (p.Pro2496Thr)
c.6529C>A (p.Pro2177Thr)
c.6520C>A (p.Pro2174Thr)
n.12059G>T
5g.37064623C>GCA359522293CPLANE1,NIPBLc.8146C>G (p.Pro2716Ala)
c.*90C>G (n.*90C>G)
n.2069C>G
c.46C>G (p.Pro16Ala)
c.*600C>G (n.*600C>G)
c.7402C>G (p.Pro2468Ala)
c.7999C>G (p.Pro2667Ala)
c.7948C>G (p.Pro2650Ala)
c.7765C>G (p.Pro2589Ala)
c.7486C>G (p.Pro2496Ala)
c.6529C>G (p.Pro2177Ala)
c.6520C>G (p.Pro2174Ala)
n.12059G>C
5g.37064623C>TCA359522290CPLANE1,NIPBLc.8146C>T (p.Pro2716Ser)
c.*90C>T (n.*90C>T)
n.2069C>T
c.46C>T (p.Pro16Ser)
c.*600C>T (n.*600C>T)
c.7402C>T (p.Pro2468Ser)
c.7999C>T (p.Pro2667Ser)
c.7948C>T (p.Pro2650Ser)
c.7765C>T (p.Pro2589Ser)
c.7486C>T (p.Pro2496Ser)
c.6529C>T (p.Pro2177Ser)
c.6520C>T (p.Pro2174Ser)
n.12059G>A
5g.37064623_37064630delinsCCAAAGTACA1539590251CPLANE1,NIPBLc.8146_8153delinsCCAAAGTA (p.Pro2716=)
c.*90_*97delinsCCAAAGTA (n.*90_*97delinsCCAAAGTA)
n.2069_2076delinsCCAAAGTA
c.46_53delinsCCAAAGTA (p.Pro16=)
c.*600_*607delinsCCAAAGTA (n.*600_*607delinsCCAAAGTA)
c.7402_7409delinsCCAAAGTA (p.Pro2468=)
c.7999_8006delinsCCAAAGTA (p.Pro2667=)
c.7948_7955delinsCCAAAGTA (p.Pro2650=)
c.7765_7772delinsCCAAAGTA (p.Pro2589=)
c.7486_7493delinsCCAAAGTA (p.Pro2496=)
c.6529_6536delinsCCAAAGTA (p.Pro2177=)
c.6520_6527delinsCCAAAGTA (p.Pro2174=)
n.12052_12059delinsTACTTTGG
5g.37064624C>ACA359522299CPLANE1,NIPBLc.8147C>A (p.Pro2716Gln)
c.*91C>A (n.*91C>A)
n.2070C>A
c.47C>A (p.Pro16Gln)
c.*601C>A (n.*601C>A)
c.7403C>A (p.Pro2468Gln)
c.8000C>A (p.Pro2667Gln)
c.7949C>A (p.Pro2650Gln)
c.7766C>A (p.Pro2589Gln)
c.7487C>A (p.Pro2496Gln)
c.6530C>A (p.Pro2177Gln)
c.6521C>A (p.Pro2174Gln)
n.12058G>T
5g.37064624C>GCA359522301CPLANE1,NIPBLc.8147C>G (p.Pro2716Arg)
c.*91C>G (n.*91C>G)
n.2070C>G
c.47C>G (p.Pro16Arg)
c.*601C>G (n.*601C>G)
c.7403C>G (p.Pro2468Arg)
c.8000C>G (p.Pro2667Arg)
c.7949C>G (p.Pro2650Arg)
c.7766C>G (p.Pro2589Arg)
c.7487C>G (p.Pro2496Arg)
c.6530C>G (p.Pro2177Arg)
c.6521C>G (p.Pro2174Arg)
n.12058G>C
5g.37064624C>TCA359522302CPLANE1,NIPBLc.8147C>T (p.Pro2716Leu)
c.*91C>T (n.*91C>T)
n.2070C>T
c.47C>T (p.Pro16Leu)
c.*601C>T (n.*601C>T)
c.7403C>T (p.Pro2468Leu)
c.8000C>T (p.Pro2667Leu)
c.7949C>T (p.Pro2650Leu)
c.7766C>T (p.Pro2589Leu)
c.7487C>T (p.Pro2496Leu)
c.6530C>T (p.Pro2177Leu)
c.6521C>T (p.Pro2174Leu)
n.12058G>A
5g.37064629_37064635delCA915943341CPLANE1,NIPBLc.8152_8158del (p.Tyr2718IlefsTer8)
c.*96_*102del (n.*96_*102del)
n.2075_2081del
c.52_58del (p.Tyr18IlefsTer8)
c.*606_*612del (n.*606_*612del)
c.7408_7414del (p.Tyr2470IlefsTer8)
c.8005_8011del (p.Tyr2669IlefsTer8)
c.7954_7960del (p.Tyr2652IlefsTer8)
c.7771_7777del (p.Tyr2591IlefsTer8)
c.7492_7498del (p.Tyr2498IlefsTer8)
c.6535_6541del (p.Tyr2179IlefsTer8)
c.6526_6532del (p.Tyr2176IlefsTer8)
n.12052_12058del
 ClinVar dbSNP
5g.37064625A=CA1539590259CPLANE1,NIPBLc.8148A= (p.Pro2716=)
c.*92A= (n.*92A=)
n.2071A=
c.48A= (p.Pro16=)
c.*602A= (n.*602A=)
c.7404A= (p.Pro2468=)
c.8001A= (p.Pro2667=)
c.7950A= (p.Pro2650=)
c.7767A= (p.Pro2589=)
c.7488A= (p.Pro2496=)
c.6531A= (p.Pro2177=)
c.6522A= (p.Pro2174=)
n.12057T=
5g.37064625A>CCA444096459CPLANE1,NIPBLc.8148A>C (p.Pro2716=)
c.*92A>C (n.*92A>C)
n.2071A>C
c.48A>C (p.Pro16=)
c.*602A>C (n.*602A>C)
c.7404A>C (p.Pro2468=)
c.8001A>C (p.Pro2667=)
c.7950A>C (p.Pro2650=)
c.7767A>C (p.Pro2589=)
c.7488A>C (p.Pro2496=)
c.6531A>C (p.Pro2177=)
c.6522A>C (p.Pro2174=)
n.12057T>G
5g.37064625A>GCA444096460CPLANE1,NIPBLc.8148A>G (p.Pro2716=)
c.*92A>G (n.*92A>G)
n.2071A>G
c.48A>G (p.Pro16=)
c.*602A>G (n.*602A>G)
c.7404A>G (p.Pro2468=)
c.8001A>G (p.Pro2667=)
c.7950A>G (p.Pro2650=)
c.7767A>G (p.Pro2589=)
c.7488A>G (p.Pro2496=)
c.6531A>G (p.Pro2177=)
c.6522A>G (p.Pro2174=)
n.12057T>C
 ClinVar dbSNP gnomAD v4
5g.37064625A>TCA444096461CPLANE1,NIPBLc.8148A>T (p.Pro2716=)
c.*92A>T (n.*92A>T)
n.2071A>T
c.48A>T (p.Pro16=)
c.*602A>T (n.*602A>T)
c.7404A>T (p.Pro2468=)
c.8001A>T (p.Pro2667=)
c.7950A>T (p.Pro2650=)
c.7767A>T (p.Pro2589=)
c.7488A>T (p.Pro2496=)
c.6531A>T (p.Pro2177=)
c.6522A>T (p.Pro2174=)
n.12057T>A
5g.37064626A=CA1539590269CPLANE1,NIPBLc.8149A= (p.Lys2717=)
c.*93A= (n.*93A=)
n.2072A=
c.49A= (p.Lys17=)
c.*603A= (n.*603A=)
c.7405A= (p.Lys2469=)
c.8002A= (p.Lys2668=)
c.7951A= (p.Lys2651=)
c.7768A= (p.Lys2590=)
c.7489A= (p.Lys2497=)
c.6532A= (p.Lys2178=)
c.6523A= (p.Lys2175=)
n.12056T=
5g.37064626A>CCA359522307CPLANE1,NIPBLc.8149A>C (p.Lys2717Gln)
c.*93A>C (n.*93A>C)
n.2072A>C
c.49A>C (p.Lys17Gln)
c.*603A>C (n.*603A>C)
c.7405A>C (p.Lys2469Gln)
c.8002A>C (p.Lys2668Gln)
c.7951A>C (p.Lys2651Gln)
c.7768A>C (p.Lys2590Gln)
c.7489A>C (p.Lys2497Gln)
c.6532A>C (p.Lys2178Gln)
c.6523A>C (p.Lys2175Gln)
n.12056T>G
5g.37064626A>GCA117058950CPLANE1,NIPBLc.8149A>G (p.Lys2717Glu)
c.*93A>G (n.*93A>G)
n.2072A>G
c.49A>G (p.Lys17Glu)
c.*603A>G (n.*603A>G)
c.7405A>G (p.Lys2469Glu)
c.8002A>G (p.Lys2668Glu)
c.7951A>G (p.Lys2651Glu)
c.7768A>G (p.Lys2590Glu)
c.7489A>G (p.Lys2497Glu)
c.6532A>G (p.Lys2178Glu)
c.6523A>G (p.Lys2175Glu)
n.12056T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37064626A>TCA359522312CPLANE1,NIPBLc.8149A>T (p.Lys2717Ter)
c.*93A>T (n.*93A>T)
n.2072A>T
c.49A>T (p.Lys17Ter)
c.*603A>T (n.*603A>T)
c.7405A>T (p.Lys2469Ter)
c.8002A>T (p.Lys2668Ter)
c.7951A>T (p.Lys2651Ter)
c.7768A>T (p.Lys2590Ter)
c.7489A>T (p.Lys2497Ter)
c.6532A>T (p.Lys2178Ter)
c.6523A>T (p.Lys2175Ter)
n.12056T>A
5g.37064627A>CCA359522314CPLANE1,NIPBLc.8150A>C (p.Lys2717Thr)
c.*94A>C (n.*94A>C)
n.2073A>C
c.50A>C (p.Lys17Thr)
c.*604A>C (n.*604A>C)
c.7406A>C (p.Lys2469Thr)
c.8003A>C (p.Lys2668Thr)
c.7952A>C (p.Lys2651Thr)
c.7769A>C (p.Lys2590Thr)
c.7490A>C (p.Lys2497Thr)
c.6533A>C (p.Lys2178Thr)
c.6524A>C (p.Lys2175Thr)
n.12055T>G
5g.37064627A>GCA359522319CPLANE1,NIPBLc.8150A>G (p.Lys2717Arg)
c.*94A>G (n.*94A>G)
n.2073A>G
c.50A>G (p.Lys17Arg)
c.*604A>G (n.*604A>G)
c.7406A>G (p.Lys2469Arg)
c.8003A>G (p.Lys2668Arg)
c.7952A>G (p.Lys2651Arg)
c.7769A>G (p.Lys2590Arg)
c.7490A>G (p.Lys2497Arg)
c.6533A>G (p.Lys2178Arg)
c.6524A>G (p.Lys2175Arg)
n.12055T>C
 gnomAD v4
5g.37064627A>TCA359522317CPLANE1,NIPBLc.8150A>T (p.Lys2717Met)
c.*94A>T (n.*94A>T)
n.2073A>T
c.50A>T (p.Lys17Met)
c.*604A>T (n.*604A>T)
c.7406A>T (p.Lys2469Met)
c.8003A>T (p.Lys2668Met)
c.7952A>T (p.Lys2651Met)
c.7769A>T (p.Lys2590Met)
c.7490A>T (p.Lys2497Met)
c.6533A>T (p.Lys2178Met)
c.6524A>T (p.Lys2175Met)
n.12055T>A
5g.37064628G>ACA444096462CPLANE1,NIPBLc.8151G>A (p.Lys2717=)
c.*95G>A (n.*95G>A)
n.2074G>A
c.51G>A (p.Lys17=)
c.*605G>A (n.*605G>A)
c.7407G>A (p.Lys2469=)
c.8004G>A (p.Lys2668=)
c.7953G>A (p.Lys2651=)
c.7770G>A (p.Lys2590=)
c.7491G>A (p.Lys2497=)
c.6534G>A (p.Lys2178=)
c.6525G>A (p.Lys2175=)
n.12054C>T
 dbSNP gnomAD v4
5g.37064628G>CCA359522321CPLANE1,NIPBLc.8151G>C (p.Lys2717Asn)
c.*95G>C (n.*95G>C)
n.2074G>C
c.51G>C (p.Lys17Asn)
c.*605G>C (n.*605G>C)
c.7407G>C (p.Lys2469Asn)
c.8004G>C (p.Lys2668Asn)
c.7953G>C (p.Lys2651Asn)
c.7770G>C (p.Lys2590Asn)
c.7491G>C (p.Lys2497Asn)
c.6534G>C (p.Lys2178Asn)
c.6525G>C (p.Lys2175Asn)
n.12054C>G
5g.37064628G=CA1539590278CPLANE1,NIPBLc.8151G= (p.Lys2717=)
c.*95G= (n.*95G=)
n.2074G=
c.51G= (p.Lys17=)
c.*605G= (n.*605G=)
c.7407G= (p.Lys2469=)
c.8004G= (p.Lys2668=)
c.7953G= (p.Lys2651=)
c.7770G= (p.Lys2590=)
c.7491G= (p.Lys2497=)
c.6534G= (p.Lys2178=)
c.6525G= (p.Lys2175=)
n.12054C=
5g.37064628G>TCA359522323CPLANE1,NIPBLc.8151G>T (p.Lys2717Asn)
c.*95G>T (n.*95G>T)
n.2074G>T
c.51G>T (p.Lys17Asn)
c.*605G>T (n.*605G>T)
c.7407G>T (p.Lys2469Asn)
c.8004G>T (p.Lys2668Asn)
c.7953G>T (p.Lys2651Asn)
c.7770G>T (p.Lys2590Asn)
c.7491G>T (p.Lys2497Asn)
c.6534G>T (p.Lys2178Asn)
c.6525G>T (p.Lys2175Asn)
n.12054C>A
5g.37064629T>ACA359522325CPLANE1,NIPBLc.8152T>A (p.Tyr2718Asn)
c.*96T>A (n.*96T>A)
n.2075T>A
c.52T>A (p.Tyr18Asn)
c.*606T>A (n.*606T>A)
c.7408T>A (p.Tyr2470Asn)
c.8005T>A (p.Tyr2669Asn)
c.7954T>A (p.Tyr2652Asn)
c.7771T>A (p.Tyr2591Asn)
c.7492T>A (p.Tyr2498Asn)
c.6535T>A (p.Tyr2179Asn)
c.6526T>A (p.Tyr2176Asn)
n.12053A>T
5g.37064629T>CCA359522327CPLANE1,NIPBLc.8152T>C (p.Tyr2718His)
c.*96T>C (n.*96T>C)
n.2075T>C
c.52T>C (p.Tyr18His)
c.*606T>C (n.*606T>C)
c.7408T>C (p.Tyr2470His)
c.8005T>C (p.Tyr2669His)
c.7954T>C (p.Tyr2652His)
c.7771T>C (p.Tyr2591His)
c.7492T>C (p.Tyr2498His)
c.6535T>C (p.Tyr2179His)
c.6526T>C (p.Tyr2176His)
n.12053A>G
5g.37064629T>GCA359522328CPLANE1,NIPBLc.8152T>G (p.Tyr2718Asp)
c.*96T>G (n.*96T>G)
n.2075T>G
c.52T>G (p.Tyr18Asp)
c.*606T>G (n.*606T>G)
c.7408T>G (p.Tyr2470Asp)
c.8005T>G (p.Tyr2669Asp)
c.7954T>G (p.Tyr2652Asp)
c.7771T>G (p.Tyr2591Asp)
c.7492T>G (p.Tyr2498Asp)
c.6535T>G (p.Tyr2179Asp)
c.6526T>G (p.Tyr2176Asp)
n.12053A>C
5g.37064630A=CA1539590285CPLANE1,NIPBLc.8153A= (p.Tyr2718=)
c.*97A= (n.*97A=)
n.2076A=
c.53A= (p.Tyr18=)
c.*607A= (n.*607A=)
c.7409A= (p.Tyr2470=)
c.8006A= (p.Tyr2669=)
c.7955A= (p.Tyr2652=)
c.7772A= (p.Tyr2591=)
c.7493A= (p.Tyr2498=)
c.6536A= (p.Tyr2179=)
c.6527A= (p.Tyr2176=)
n.12052T=
5g.37064630A>CCA359522329CPLANE1,NIPBLc.8153A>C (p.Tyr2718Ser)
c.*97A>C (n.*97A>C)
n.2076A>C
c.53A>C (p.Tyr18Ser)
c.*607A>C (n.*607A>C)
c.7409A>C (p.Tyr2470Ser)
c.8006A>C (p.Tyr2669Ser)
c.7955A>C (p.Tyr2652Ser)
c.7772A>C (p.Tyr2591Ser)
c.7493A>C (p.Tyr2498Ser)
c.6536A>C (p.Tyr2179Ser)
c.6527A>C (p.Tyr2176Ser)
n.12052T>G
5g.37064630A>GCA3237343CPLANE1,NIPBLc.8153A>G (p.Tyr2718Cys)
c.*97A>G (n.*97A>G)
n.2076A>G
c.53A>G (p.Tyr18Cys)
c.*607A>G (n.*607A>G)
c.7409A>G (p.Tyr2470Cys)
c.8006A>G (p.Tyr2669Cys)
c.7955A>G (p.Tyr2652Cys)
c.7772A>G (p.Tyr2591Cys)
c.7493A>G (p.Tyr2498Cys)
c.6536A>G (p.Tyr2179Cys)
c.6527A>G (p.Tyr2176Cys)
n.12052T>C
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.37064630A>TCA359522332CPLANE1,NIPBLc.8153A>T (p.Tyr2718Phe)
c.*97A>T (n.*97A>T)
n.2076A>T
c.53A>T (p.Tyr18Phe)
c.*607A>T (n.*607A>T)
c.7409A>T (p.Tyr2470Phe)
c.8006A>T (p.Tyr2669Phe)
c.7955A>T (p.Tyr2652Phe)
c.7772A>T (p.Tyr2591Phe)
c.7493A>T (p.Tyr2498Phe)
c.6536A>T (p.Tyr2179Phe)
c.6527A>T (p.Tyr2176Phe)
n.12052T>A
5g.37064631C>ACA359522334CPLANE1,NIPBLc.8154C>A (p.Tyr2718Ter)
c.*98C>A (n.*98C>A)
n.2077C>A
c.54C>A (p.Tyr18Ter)
c.*608C>A (n.*608C>A)
c.7410C>A (p.Tyr2470Ter)
c.8007C>A (p.Tyr2669Ter)
c.7956C>A (p.Tyr2652Ter)
c.7773C>A (p.Tyr2591Ter)
c.7494C>A (p.Tyr2498Ter)
c.6537C>A (p.Tyr2179Ter)
c.6528C>A (p.Tyr2176Ter)
n.12051G>T
5g.37064631C=CA1539590298CPLANE1,NIPBLc.8154C= (p.Tyr2718=)
c.*98C= (n.*98C=)
n.2077C=
c.54C= (p.Tyr18=)
c.*608C= (n.*608C=)
c.7410C= (p.Tyr2470=)
c.8007C= (p.Tyr2669=)
c.7956C= (p.Tyr2652=)
c.7773C= (p.Tyr2591=)
c.7494C= (p.Tyr2498=)
c.6537C= (p.Tyr2179=)
c.6528C= (p.Tyr2176=)
n.12051G=
5g.37064631C>GCA359522339CPLANE1,NIPBLc.8154C>G (p.Tyr2718Ter)
c.*98C>G (n.*98C>G)
n.2077C>G
c.54C>G (p.Tyr18Ter)
c.*608C>G (n.*608C>G)
c.7410C>G (p.Tyr2470Ter)
c.8007C>G (p.Tyr2669Ter)
c.7956C>G (p.Tyr2652Ter)
c.7773C>G (p.Tyr2591Ter)
c.7494C>G (p.Tyr2498Ter)
c.6537C>G (p.Tyr2179Ter)
c.6528C>G (p.Tyr2176Ter)
n.12051G>C
5g.37064631C>TCA444096463CPLANE1,NIPBLc.8154C>T (p.Tyr2718=)
c.*98C>T (n.*98C>T)
n.2077C>T
c.54C>T (p.Tyr18=)
c.*608C>T (n.*608C>T)
c.7410C>T (p.Tyr2470=)
c.8007C>T (p.Tyr2669=)
c.7956C>T (p.Tyr2652=)
c.7773C>T (p.Tyr2591=)
c.7494C>T (p.Tyr2498=)
c.6537C>T (p.Tyr2179=)
c.6528C>T (p.Tyr2176=)
n.12051G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37064632A>CCA359522341CPLANE1,NIPBLc.8155A>C (p.Lys2719Gln)
c.*99A>C (n.*99A>C)
n.2078A>C
c.55A>C (p.Lys19Gln)
c.*609A>C (n.*609A>C)
c.7411A>C (p.Lys2471Gln)
c.8008A>C (p.Lys2670Gln)
c.7957A>C (p.Lys2653Gln)
c.7774A>C (p.Lys2592Gln)
c.7495A>C (p.Lys2499Gln)
c.6538A>C (p.Lys2180Gln)
c.6529A>C (p.Lys2177Gln)
n.12050T>G
5g.37064632A>GCA359522345CPLANE1,NIPBLc.8155A>G (p.Lys2719Glu)
c.*99A>G (n.*99A>G)
n.2078A>G
c.55A>G (p.Lys19Glu)
c.*609A>G (n.*609A>G)
c.7411A>G (p.Lys2471Glu)
c.8008A>G (p.Lys2670Glu)
c.7957A>G (p.Lys2653Glu)
c.7774A>G (p.Lys2592Glu)
c.7495A>G (p.Lys2499Glu)
c.6538A>G (p.Lys2180Glu)
c.6529A>G (p.Lys2177Glu)
n.12050T>C
5g.37064632A>TCA359522347CPLANE1,NIPBLc.8155A>T (p.Lys2719Ter)
c.*99A>T (n.*99A>T)
n.2078A>T
c.55A>T (p.Lys19Ter)
c.*609A>T (n.*609A>T)
c.7411A>T (p.Lys2471Ter)
c.8008A>T (p.Lys2670Ter)
c.7957A>T (p.Lys2653Ter)
c.7774A>T (p.Lys2592Ter)
c.7495A>T (p.Lys2499Ter)
c.6538A>T (p.Lys2180Ter)
c.6529A>T (p.Lys2177Ter)
n.12050T>A
5g.37064633A=CA1539590305CPLANE1,NIPBLc.8156A= (p.Lys2719=)
c.*100A= (n.*100A=)
n.2079A=
c.56A= (p.Lys19=)
c.*610A= (n.*610A=)
c.7412A= (p.Lys2471=)
c.8009A= (p.Lys2670=)
c.7958A= (p.Lys2653=)
c.7775A= (p.Lys2592=)
c.7496A= (p.Lys2499=)
c.6539A= (p.Lys2180=)
c.6530A= (p.Lys2177=)
n.12049T=
5g.37064633A>CCA359522350CPLANE1,NIPBLc.8156A>C (p.Lys2719Thr)
c.*100A>C (n.*100A>C)
n.2079A>C
c.56A>C (p.Lys19Thr)
c.*610A>C (n.*610A>C)
c.7412A>C (p.Lys2471Thr)
c.8009A>C (p.Lys2670Thr)
c.7958A>C (p.Lys2653Thr)
c.7775A>C (p.Lys2592Thr)
c.7496A>C (p.Lys2499Thr)
c.6539A>C (p.Lys2180Thr)
c.6530A>C (p.Lys2177Thr)
n.12049T>G
 dbSNP gnomAD v3 gnomAD v4
5g.37064633A>GCA359522348CPLANE1,NIPBLc.8156A>G (p.Lys2719Arg)
c.*100A>G (n.*100A>G)
n.2079A>G
c.56A>G (p.Lys19Arg)
c.*610A>G (n.*610A>G)
c.7412A>G (p.Lys2471Arg)
c.8009A>G (p.Lys2670Arg)
c.7958A>G (p.Lys2653Arg)
c.7775A>G (p.Lys2592Arg)
c.7496A>G (p.Lys2499Arg)
c.6539A>G (p.Lys2180Arg)
c.6530A>G (p.Lys2177Arg)
n.12049T>C
5g.37064633A>TCA359522349CPLANE1,NIPBLc.8156A>T (p.Lys2719Ile)
c.*100A>T (n.*100A>T)
n.2079A>T
c.56A>T (p.Lys19Ile)
c.*610A>T (n.*610A>T)
c.7412A>T (p.Lys2471Ile)
c.8009A>T (p.Lys2670Ile)
c.7958A>T (p.Lys2653Ile)
c.7775A>T (p.Lys2592Ile)
c.7496A>T (p.Lys2499Ile)
c.6539A>T (p.Lys2180Ile)
c.6530A>T (p.Lys2177Ile)
n.12049T>A
5g.37064634A>CCA359522351CPLANE1,NIPBLc.8157A>C (p.Lys2719Asn)
c.*101A>C (n.*101A>C)
n.2080A>C
c.57A>C (p.Lys19Asn)
c.*611A>C (n.*611A>C)
c.7413A>C (p.Lys2471Asn)
c.8010A>C (p.Lys2670Asn)
c.7959A>C (p.Lys2653Asn)
c.7776A>C (p.Lys2592Asn)
c.7497A>C (p.Lys2499Asn)
c.6540A>C (p.Lys2180Asn)
c.6531A>C (p.Lys2177Asn)
n.12048T>G
5g.37064634A>GCA444096464CPLANE1,NIPBLc.8157A>G (p.Lys2719=)
c.*101A>G (n.*101A>G)
n.2080A>G
c.57A>G (p.Lys19=)
c.*611A>G (n.*611A>G)
c.7413A>G (p.Lys2471=)
c.8010A>G (p.Lys2670=)
c.7959A>G (p.Lys2653=)
c.7776A>G (p.Lys2592=)
c.7497A>G (p.Lys2499=)
c.6540A>G (p.Lys2180=)
c.6531A>G (p.Lys2177=)
n.12048T>C
5g.37064634A>TCA359522353CPLANE1,NIPBLc.8157A>T (p.Lys2719Asn)
c.*101A>T (n.*101A>T)
n.2080A>T
c.57A>T (p.Lys19Asn)
c.*611A>T (n.*611A>T)
c.7413A>T (p.Lys2471Asn)
c.8010A>T (p.Lys2670Asn)
c.7959A>T (p.Lys2653Asn)
c.7776A>T (p.Lys2592Asn)
c.7497A>T (p.Lys2499Asn)
c.6540A>T (p.Lys2180Asn)
c.6531A>T (p.Lys2177Asn)
n.12048T>A
5g.37064635G>ACA359522354CPLANE1,NIPBLc.8158G>A (p.Asp2720Asn)
c.*102G>A (n.*102G>A)
n.2081G>A
c.58G>A (p.Asp20Asn)
c.*612G>A (n.*612G>A)
c.7414G>A (p.Asp2472Asn)
c.8011G>A (p.Asp2671Asn)
c.7960G>A (p.Asp2654Asn)
c.7777G>A (p.Asp2593Asn)
c.7498G>A (p.Asp2500Asn)
c.6541G>A (p.Asp2181Asn)
c.6532G>A (p.Asp2178Asn)
n.12047C>T
5g.37064635G>CCA359522356CPLANE1,NIPBLc.8158G>C (p.Asp2720His)
c.*102G>C (n.*102G>C)
n.2081G>C
c.58G>C (p.Asp20His)
c.*612G>C (n.*612G>C)
c.7414G>C (p.Asp2472His)
c.8011G>C (p.Asp2671His)
c.7960G>C (p.Asp2654His)
c.7777G>C (p.Asp2593His)
c.7498G>C (p.Asp2500His)
c.6541G>C (p.Asp2181His)
c.6532G>C (p.Asp2178His)
n.12047C>G
5g.37064635G>TCA359522357CPLANE1,NIPBLc.8158G>T (p.Asp2720Tyr)
c.*102G>T (n.*102G>T)
n.2081G>T
c.58G>T (p.Asp20Tyr)
c.*612G>T (n.*612G>T)
c.7414G>T (p.Asp2472Tyr)
c.8011G>T (p.Asp2671Tyr)
c.7960G>T (p.Asp2654Tyr)
c.7777G>T (p.Asp2593Tyr)
c.7498G>T (p.Asp2500Tyr)
c.6541G>T (p.Asp2181Tyr)
c.6532G>T (p.Asp2178Tyr)
n.12047C>A
5g.37064636A>CCA359522359CPLANE1,NIPBLc.8159A>C (p.Asp2720Ala)
c.*103A>C (n.*103A>C)
n.2082A>C
c.59A>C (p.Asp20Ala)
c.*613A>C (n.*613A>C)
c.7415A>C (p.Asp2472Ala)
c.8012A>C (p.Asp2671Ala)
c.7961A>C (p.Asp2654Ala)
c.7778A>C (p.Asp2593Ala)
c.7499A>C (p.Asp2500Ala)
c.6542A>C (p.Asp2181Ala)
c.6533A>C (p.Asp2178Ala)
n.12046T>G
5g.37064636A>GCA359522360CPLANE1,NIPBLc.8159A>G (p.Asp2720Gly)
c.*103A>G (n.*103A>G)
n.2082A>G
c.59A>G (p.Asp20Gly)
c.*613A>G (n.*613A>G)
c.7415A>G (p.Asp2472Gly)
c.8012A>G (p.Asp2671Gly)
c.7961A>G (p.Asp2654Gly)
c.7778A>G (p.Asp2593Gly)
c.7499A>G (p.Asp2500Gly)
c.6542A>G (p.Asp2181Gly)
c.6533A>G (p.Asp2178Gly)
n.12046T>C
5g.37064636A>TCA359522362CPLANE1,NIPBLc.8159A>T (p.Asp2720Val)
c.*103A>T (n.*103A>T)
n.2082A>T
c.59A>T (p.Asp20Val)
c.*613A>T (n.*613A>T)
c.7415A>T (p.Asp2472Val)
c.8012A>T (p.Asp2671Val)
c.7961A>T (p.Asp2654Val)
c.7778A>T (p.Asp2593Val)
c.7499A>T (p.Asp2500Val)
c.6542A>T (p.Asp2181Val)
c.6533A>T (p.Asp2178Val)
n.12046T>A
5g.37064637T>ACA359522363CPLANE1,NIPBLc.8160T>A (p.Asp2720Glu)
c.*104T>A (n.*104T>A)
n.2083T>A
c.60T>A (p.Asp20Glu)
c.*614T>A (n.*614T>A)
c.7416T>A (p.Asp2472Glu)
c.8013T>A (p.Asp2671Glu)
c.7962T>A (p.Asp2654Glu)
c.7779T>A (p.Asp2593Glu)
c.7500T>A (p.Asp2500Glu)
c.6543T>A (p.Asp2181Glu)
c.6534T>A (p.Asp2178Glu)
n.12045A>T
5g.37064637T>CCA444096465CPLANE1,NIPBLc.8160T>C (p.Asp2720=)
c.*104T>C (n.*104T>C)
n.2083T>C
c.60T>C (p.Asp20=)
c.*614T>C (n.*614T>C)
c.7416T>C (p.Asp2472=)
c.8013T>C (p.Asp2671=)
c.7962T>C (p.Asp2654=)
c.7779T>C (p.Asp2593=)
c.7500T>C (p.Asp2500=)
c.6543T>C (p.Asp2181=)
c.6534T>C (p.Asp2178=)
n.12045A>G
 gnomAD v4
5g.37064637T>GCA359522364CPLANE1,NIPBLc.8160T>G (p.Asp2720Glu)
c.*104T>G (n.*104T>G)
n.2083T>G
c.60T>G (p.Asp20Glu)
c.*614T>G (n.*614T>G)
c.7416T>G (p.Asp2472Glu)
c.8013T>G (p.Asp2671Glu)
c.7962T>G (p.Asp2654Glu)
c.7779T>G (p.Asp2593Glu)
c.7500T>G (p.Asp2500Glu)
c.6543T>G (p.Asp2181Glu)
c.6534T>G (p.Asp2178Glu)
n.12045A>C
 COSMIC
5g.37064638C>ACA444096466CPLANE1,NIPBLc.8161C>A (p.Arg2721=)
c.*105C>A (n.*105C>A)
n.2084C>A
c.61C>A (p.Arg21=)
c.*615C>A (n.*615C>A)
c.7417C>A (p.Arg2473=)
c.8014C>A (p.Arg2672=)
c.7963C>A (p.Arg2655=)
c.7780C>A (p.Arg2594=)
c.7501C>A (p.Arg2501=)
c.6544C>A (p.Arg2182=)
c.6535C>A (p.Arg2179=)
n.12044G>T
 gnomAD v4
5g.37064638C>GCA359522365CPLANE1,NIPBLc.8161C>G (p.Arg2721Gly)
c.*105C>G (n.*105C>G)
n.2084C>G
c.61C>G (p.Arg21Gly)
c.*615C>G (n.*615C>G)
c.7417C>G (p.Arg2473Gly)
c.8014C>G (p.Arg2672Gly)
c.7963C>G (p.Arg2655Gly)
c.7780C>G (p.Arg2594Gly)
c.7501C>G (p.Arg2501Gly)
c.6544C>G (p.Arg2182Gly)
c.6535C>G (p.Arg2179Gly)
n.12044G>C
5g.37064638C>TCA359522366CPLANE1,NIPBLc.8161C>T (p.Arg2721Ter)
c.*105C>T (n.*105C>T)
n.2084C>T
c.61C>T (p.Arg21Ter)
c.*615C>T (n.*615C>T)
c.7417C>T (p.Arg2473Ter)
c.8014C>T (p.Arg2672Ter)
c.7963C>T (p.Arg2655Ter)
c.7780C>T (p.Arg2594Ter)
c.7501C>T (p.Arg2501Ter)
c.6544C>T (p.Arg2182Ter)
c.6535C>T (p.Arg2179Ter)
n.12044G>A
 COSMIC
5g.37064639G>ACA359522367CPLANE1,NIPBLc.8162G>A (p.Arg2721Gln)
c.*106G>A (n.*106G>A)
n.2085G>A
c.62G>A (p.Arg21Gln)
c.*616G>A (n.*616G>A)
c.7418G>A (p.Arg2473Gln)
c.8015G>A (p.Arg2672Gln)
c.7964G>A (p.Arg2655Gln)
c.7781G>A (p.Arg2594Gln)
c.7502G>A (p.Arg2501Gln)
c.6545G>A (p.Arg2182Gln)
c.6536G>A (p.Arg2179Gln)
n.12043C>T
 dbSNP gnomAD v4 COSMIC
5g.37064639G>CCA359522370CPLANE1,NIPBLc.8162G>C (p.Arg2721Pro)
c.*106G>C (n.*106G>C)
n.2085G>C
c.62G>C (p.Arg21Pro)
c.*616G>C (n.*616G>C)
c.7418G>C (p.Arg2473Pro)
c.8015G>C (p.Arg2672Pro)
c.7964G>C (p.Arg2655Pro)
c.7781G>C (p.Arg2594Pro)
c.7502G>C (p.Arg2501Pro)
c.6545G>C (p.Arg2182Pro)
c.6536G>C (p.Arg2179Pro)
n.12043C>G
5g.37064639G=CA1539590309CPLANE1,NIPBLc.8162G= (p.Arg2721=)
c.*106G= (n.*106G=)
n.2085G=
c.62G= (p.Arg21=)
c.*616G= (n.*616G=)
c.7418G= (p.Arg2473=)
c.8015G= (p.Arg2672=)
c.7964G= (p.Arg2655=)
c.7781G= (p.Arg2594=)
c.7502G= (p.Arg2501=)
c.6545G= (p.Arg2182=)
c.6536G= (p.Arg2179=)
n.12043C=
5g.37064639G>TCA359522368CPLANE1,NIPBLc.8162G>T (p.Arg2721Leu)
c.*106G>T (n.*106G>T)
n.2085G>T
c.62G>T (p.Arg21Leu)
c.*616G>T (n.*616G>T)
c.7418G>T (p.Arg2473Leu)
c.8015G>T (p.Arg2672Leu)
c.7964G>T (p.Arg2655Leu)
c.7781G>T (p.Arg2594Leu)
c.7502G>T (p.Arg2501Leu)
c.6545G>T (p.Arg2182Leu)
c.6536G>T (p.Arg2179Leu)
n.12043C>A
 gnomAD v4
5g.37064640A>CCA444096468CPLANE1,NIPBLc.8163A>C (p.Arg2721=)
c.*107A>C (n.*107A>C)
n.2086A>C
c.63A>C (p.Arg21=)
c.*617A>C (n.*617A>C)
c.7419A>C (p.Arg2473=)
c.8016A>C (p.Arg2672=)
c.7965A>C (p.Arg2655=)
c.7782A>C (p.Arg2594=)
c.7503A>C (p.Arg2501=)
c.6546A>C (p.Arg2182=)
c.6537A>C (p.Arg2179=)
n.12042T>G
5g.37064640A>GCA444096469CPLANE1,NIPBLc.8163A>G (p.Arg2721=)
c.*107A>G (n.*107A>G)
n.2086A>G
c.63A>G (p.Arg21=)
c.*617A>G (n.*617A>G)
c.7419A>G (p.Arg2473=)
c.8016A>G (p.Arg2672=)
c.7965A>G (p.Arg2655=)
c.7782A>G (p.Arg2594=)
c.7503A>G (p.Arg2501=)
c.6546A>G (p.Arg2182=)
c.6537A>G (p.Arg2179=)
n.12042T>C
5g.37064640A>TCA444096470CPLANE1,NIPBLc.8163A>T (p.Arg2721=)
c.*107A>T (n.*107A>T)
n.2086A>T
c.63A>T (p.Arg21=)
c.*617A>T (n.*617A>T)
c.7419A>T (p.Arg2473=)
c.8016A>T (p.Arg2672=)
c.7965A>T (p.Arg2655=)
c.7782A>T (p.Arg2594=)
c.7503A>T (p.Arg2501=)
c.6546A>T (p.Arg2182=)
c.6537A>T (p.Arg2179=)
n.12042T>A
5g.37064641C>ACA359522372CPLANE1,NIPBLc.8164C>A (p.Pro2722Thr)
c.*108C>A (n.*108C>A)
n.2087C>A
c.64C>A (p.Pro22Thr)
c.*618C>A (n.*618C>A)
c.7420C>A (p.Pro2474Thr)
c.8017C>A (p.Pro2673Thr)
c.7966C>A (p.Pro2656Thr)
c.7783C>A (p.Pro2595Thr)
c.7504C>A (p.Pro2502Thr)
c.6547C>A (p.Pro2183Thr)
c.6538C>A (p.Pro2180Thr)
n.12041G>T
5g.37064641C>GCA359522374CPLANE1,NIPBLc.8164C>G (p.Pro2722Ala)
c.*108C>G (n.*108C>G)
n.2087C>G
c.64C>G (p.Pro22Ala)
c.*618C>G (n.*618C>G)
c.7420C>G (p.Pro2474Ala)
c.8017C>G (p.Pro2673Ala)
c.7966C>G (p.Pro2656Ala)
c.7783C>G (p.Pro2595Ala)
c.7504C>G (p.Pro2502Ala)
c.6547C>G (p.Pro2183Ala)
c.6538C>G (p.Pro2180Ala)
n.12041G>C
5g.37064641C>TCA359522373CPLANE1,NIPBLc.8164C>T (p.Pro2722Ser)
c.*108C>T (n.*108C>T)
n.2087C>T
c.64C>T (p.Pro22Ser)
c.*618C>T (n.*618C>T)
c.7420C>T (p.Pro2474Ser)
c.8017C>T (p.Pro2673Ser)
c.7966C>T (p.Pro2656Ser)
c.7783C>T (p.Pro2595Ser)
c.7504C>T (p.Pro2502Ser)
c.6547C>T (p.Pro2183Ser)
c.6538C>T (p.Pro2180Ser)
n.12041G>A
5g.37064641_37064660delinsCCACAAATTGCAAGAGTAGTCA1539590313CPLANE1,NIPBLc.8164_8183delinsCCACAAATTGCAAGAGTAGT (p.Pro2722=)
c.*108_*127delinsCCACAAATTGCAAGAGTAGT (n.*108_*127delinsCCACAAATTGCAAGAGTAGT)
n.2087_2106delinsCCACAAATTGCAAGAGTAGT
c.64_83delinsCCACAAATTGCAAGAGTAGT (p.Pro22=)
c.*618_*637delinsCCACAAATTGCAAGAGTAGT (n.*618_*637delinsCCACAAATTGCAAGAGTAGT)
c.7420_7439delinsCCACAAATTGCAAGAGTAGT (p.Pro2474=)
c.8017_8036delinsCCACAAATTGCAAGAGTAGT (p.Pro2673=)
c.7966_7985delinsCCACAAATTGCAAGAGTAGT (p.Pro2656=)
c.7783_7802delinsCCACAAATTGCAAGAGTAGT (p.Pro2595=)
c.7504_7523delinsCCACAAATTGCAAGAGTAGT (p.Pro2502=)
c.6547_6566delinsCCACAAATTGCAAGAGTAGT (p.Pro2183=)
c.6538_6557delinsCCACAAATTGCAAGAGTAGT (p.Pro2180=)
n.12022_12041delinsACTACTCTTGCAATTTGTGG
5g.37064642C>ACA359522375CPLANE1,NIPBLc.8165C>A (p.Pro2722Gln)
c.*109C>A (n.*109C>A)
n.2088C>A
c.65C>A (p.Pro22Gln)
c.*619C>A (n.*619C>A)
c.7421C>A (p.Pro2474Gln)
c.8018C>A (p.Pro2673Gln)
c.7967C>A (p.Pro2656Gln)
c.7784C>A (p.Pro2595Gln)
c.7505C>A (p.Pro2502Gln)
c.6548C>A (p.Pro2183Gln)
c.6539C>A (p.Pro2180Gln)
n.12040G>T
5g.37064642C>GCA359522376CPLANE1,NIPBLc.8165C>G (p.Pro2722Arg)
c.*109C>G (n.*109C>G)
n.2088C>G
c.65C>G (p.Pro22Arg)
c.*619C>G (n.*619C>G)
c.7421C>G (p.Pro2474Arg)
c.8018C>G (p.Pro2673Arg)
c.7967C>G (p.Pro2656Arg)
c.7784C>G (p.Pro2595Arg)
c.7505C>G (p.Pro2502Arg)
c.6548C>G (p.Pro2183Arg)
c.6539C>G (p.Pro2180Arg)
n.12040G>C
5g.37064642C>TCA359522378CPLANE1,NIPBLc.8165C>T (p.Pro2722Leu)
c.*109C>T (n.*109C>T)
n.2088C>T
c.65C>T (p.Pro22Leu)
c.*619C>T (n.*619C>T)
c.7421C>T (p.Pro2474Leu)
c.8018C>T (p.Pro2673Leu)
c.7967C>T (p.Pro2656Leu)
c.7784C>T (p.Pro2595Leu)
c.7505C>T (p.Pro2502Leu)
c.6548C>T (p.Pro2183Leu)
c.6539C>T (p.Pro2180Leu)
n.12040G>A
5g.37064642_37064646delinsCACAACA1539590324CPLANE1,NIPBLc.8165_8169delinsCACAA (p.Pro2722=)
c.*109_*113delinsCACAA (n.*109_*113delinsCACAA)
n.2088_2092delinsCACAA
c.65_69delinsCACAA (p.Pro22=)
c.*619_*623delinsCACAA (n.*619_*623delinsCACAA)
c.7421_7425delinsCACAA (p.Pro2474=)
c.8018_8022delinsCACAA (p.Pro2673=)
c.7967_7971delinsCACAA (p.Pro2656=)
c.7784_7788delinsCACAA (p.Pro2595=)
c.7505_7509delinsCACAA (p.Pro2502=)
c.6548_6552delinsCACAA (p.Pro2183=)
c.6539_6543delinsCACAA (p.Pro2180=)
n.12036_12040delinsTTGTG
5g.37064642_37064660delCA272322CPLANE1,NIPBLc.8165_8183del (p.Pro2722ArgfsTer?)
c.*109_*127del (n.*109_*127del)
n.2088_2106del
c.65_83del (p.Pro22ArgfsTer?)
c.*619_*637del (n.*619_*637del)
c.7421_7439del (p.Pro2474ArgfsTer?)
c.8018_8036del (p.Pro2673ArgfsTer?)
c.7967_7985del (p.Pro2656ArgfsTer?)
c.7784_7802del (p.Pro2595ArgfsTer?)
c.7505_7523del (p.Pro2502ArgfsTer?)
c.6548_6566del (p.Pro2183ArgfsTer?)
c.6539_6557del (p.Pro2180ArgfsTer?)
n.12022_12040del
 ClinVar dbSNP
5g.37064643A=CA1539590335CPLANE1,NIPBLc.8166A= (p.Pro2722=)
c.*110A= (n.*110A=)
n.2089A=
c.66A= (p.Pro22=)
c.*620A= (n.*620A=)
c.7422A= (p.Pro2474=)
c.8019A= (p.Pro2673=)
c.7968A= (p.Pro2656=)
c.7785A= (p.Pro2595=)
c.7506A= (p.Pro2502=)
c.6549A= (p.Pro2183=)
c.6540A= (p.Pro2180=)
n.12039T=
5g.37064643A>CCA444096476CPLANE1,NIPBLc.8166A>C (p.Pro2722=)
c.*110A>C (n.*110A>C)
n.2089A>C
c.66A>C (p.Pro22=)
c.*620A>C (n.*620A>C)
c.7422A>C (p.Pro2474=)
c.8019A>C (p.Pro2673=)
c.7968A>C (p.Pro2656=)
c.7785A>C (p.Pro2595=)
c.7506A>C (p.Pro2502=)
c.6549A>C (p.Pro2183=)
c.6540A>C (p.Pro2180=)
n.12039T>G
5g.37064643A>GCA234393CPLANE1,NIPBLc.8166A>G (p.Pro2722=)
c.*110A>G (n.*110A>G)
n.2089A>G
c.66A>G (p.Pro22=)
c.*620A>G (n.*620A>G)
c.7422A>G (p.Pro2474=)
c.8019A>G (p.Pro2673=)
c.7968A>G (p.Pro2656=)
c.7785A>G (p.Pro2595=)
c.7506A>G (p.Pro2502=)
c.6549A>G (p.Pro2183=)
c.6540A>G (p.Pro2180=)
n.12039T>C
 ClinVar dbSNP
5g.37064643A>TCA444096477CPLANE1,NIPBLc.8166A>T (p.Pro2722=)
c.*110A>T (n.*110A>T)
n.2089A>T
c.66A>T (p.Pro22=)
c.*620A>T (n.*620A>T)
c.7422A>T (p.Pro2474=)
c.8019A>T (p.Pro2673=)
c.7968A>T (p.Pro2656=)
c.7785A>T (p.Pro2595=)
c.7506A>T (p.Pro2502=)
c.6549A>T (p.Pro2183=)
c.6540A>T (p.Pro2180=)
n.12039T>A
5g.37064644_37064647delCA1539590336CPLANE1,NIPBLc.8167_8170del (p.Gln2723LeufsTer4)
c.*111_*114del (n.*111_*114del)
n.2090_2093del
c.67_70del (p.Gln23LeufsTer4)
c.*621_*624del (n.*621_*624del)
c.7423_7426del (p.Gln2475LeufsTer4)
c.8020_8023del (p.Gln2674LeufsTer4)
c.7969_7972del (p.Gln2657LeufsTer4)
c.7786_7789del (p.Gln2596LeufsTer4)
c.7507_7510del (p.Gln2503LeufsTer4)
c.6550_6553del (p.Gln2184LeufsTer4)
c.6541_6544del (p.Gln2181LeufsTer4)
n.12036_12039del
 dbSNP
5g.37064644C>ACA359522381CPLANE1,NIPBLc.8167C>A (p.Gln2723Lys)
c.*111C>A (n.*111C>A)
n.2090C>A
c.67C>A (p.Gln23Lys)
c.*621C>A (n.*621C>A)
c.7423C>A (p.Gln2475Lys)
c.8020C>A (p.Gln2674Lys)
c.7969C>A (p.Gln2657Lys)
c.7786C>A (p.Gln2596Lys)
c.7507C>A (p.Gln2503Lys)
c.6550C>A (p.Gln2184Lys)
c.6541C>A (p.Gln2181Lys)
n.12038G>T
5g.37064644C>GCA359522385CPLANE1,NIPBLc.8167C>G (p.Gln2723Glu)
c.*111C>G (n.*111C>G)
n.2090C>G
c.67C>G (p.Gln23Glu)
c.*621C>G (n.*621C>G)
c.7423C>G (p.Gln2475Glu)
c.8020C>G (p.Gln2674Glu)
c.7969C>G (p.Gln2657Glu)
c.7786C>G (p.Gln2596Glu)
c.7507C>G (p.Gln2503Glu)
c.6550C>G (p.Gln2184Glu)
c.6541C>G (p.Gln2181Glu)
n.12038G>C
5g.37064644C>TCA359522387CPLANE1,NIPBLc.8167C>T (p.Gln2723Ter)
c.*111C>T (n.*111C>T)
n.2090C>T
c.67C>T (p.Gln23Ter)
c.*621C>T (n.*621C>T)
c.7423C>T (p.Gln2475Ter)
c.8020C>T (p.Gln2674Ter)
c.7969C>T (p.Gln2657Ter)
c.7786C>T (p.Gln2596Ter)
c.7507C>T (p.Gln2503Ter)
c.6550C>T (p.Gln2184Ter)
c.6541C>T (p.Gln2181Ter)
n.12038G>A
5g.37064645A>CCA359522389CPLANE1,NIPBLc.8168A>C (p.Gln2723Pro)
c.*112A>C (n.*112A>C)
n.2091A>C
c.68A>C (p.Gln23Pro)
c.*622A>C (n.*622A>C)
c.7424A>C (p.Gln2475Pro)
c.8021A>C (p.Gln2674Pro)
c.7970A>C (p.Gln2657Pro)
c.7787A>C (p.Gln2596Pro)
c.7508A>C (p.Gln2503Pro)
c.6551A>C (p.Gln2184Pro)
c.6542A>C (p.Gln2181Pro)
n.12037T>G
5g.37064645A>GCA359522390CPLANE1,NIPBLc.8168A>G (p.Gln2723Arg)
c.*112A>G (n.*112A>G)
n.2091A>G
c.68A>G (p.Gln23Arg)
c.*622A>G (n.*622A>G)
c.7424A>G (p.Gln2475Arg)
c.8021A>G (p.Gln2674Arg)
c.7970A>G (p.Gln2657Arg)
c.7787A>G (p.Gln2596Arg)
c.7508A>G (p.Gln2503Arg)
c.6551A>G (p.Gln2184Arg)
c.6542A>G (p.Gln2181Arg)
n.12037T>C
5g.37064645A>TCA359522392CPLANE1,NIPBLc.8168A>T (p.Gln2723Leu)
c.*112A>T (n.*112A>T)
n.2091A>T
c.68A>T (p.Gln23Leu)
c.*622A>T (n.*622A>T)
c.7424A>T (p.Gln2475Leu)
c.8021A>T (p.Gln2674Leu)
c.7970A>T (p.Gln2657Leu)
c.7787A>T (p.Gln2596Leu)
c.7508A>T (p.Gln2503Leu)
c.6551A>T (p.Gln2184Leu)
c.6542A>T (p.Gln2181Leu)
n.12037T>A
5g.37064646A=CA1539590341CPLANE1,NIPBLc.8169A= (p.Gln2723=)
c.*113A= (n.*113A=)
n.2092A=
c.69A= (p.Gln23=)
c.*623A= (n.*623A=)
c.7425A= (p.Gln2475=)
c.8022A= (p.Gln2674=)
c.7971A= (p.Gln2657=)
c.7788A= (p.Gln2596=)
c.7509A= (p.Gln2503=)
c.6552A= (p.Gln2184=)
c.6543A= (p.Gln2181=)
n.12036T=
5g.37064646A>CCA359522393CPLANE1,NIPBLc.8169A>C (p.Gln2723His)
c.*113A>C (n.*113A>C)
n.2092A>C
c.69A>C (p.Gln23His)
c.*623A>C (n.*623A>C)
c.7425A>C (p.Gln2475His)
c.8022A>C (p.Gln2674His)
c.7971A>C (p.Gln2657His)
c.7788A>C (p.Gln2596His)
c.7509A>C (p.Gln2503His)
c.6552A>C (p.Gln2184His)
c.6543A>C (p.Gln2181His)
n.12036T>G
5g.37064646A>GCA444096482CPLANE1,NIPBLc.8169A>G (p.Gln2723=)
c.*113A>G (n.*113A>G)
n.2092A>G
c.69A>G (p.Gln23=)
c.*623A>G (n.*623A>G)
c.7425A>G (p.Gln2475=)
c.8022A>G (p.Gln2674=)
c.7971A>G (p.Gln2657=)
c.7788A>G (p.Gln2596=)
c.7509A>G (p.Gln2503=)
c.6552A>G (p.Gln2184=)
c.6543A>G (p.Gln2181=)
n.12036T>C
 dbSNP gnomAD v2 gnomAD v4
5g.37064646A>TCA359522395CPLANE1,NIPBLc.8169A>T (p.Gln2723His)
c.*113A>T (n.*113A>T)
n.2092A>T
c.69A>T (p.Gln23His)
c.*623A>T (n.*623A>T)
c.7425A>T (p.Gln2475His)
c.8022A>T (p.Gln2674His)
c.7971A>T (p.Gln2657His)
c.7788A>T (p.Gln2596His)
c.7509A>T (p.Gln2503His)
c.6552A>T (p.Gln2184His)
c.6543A>T (p.Gln2181His)
n.12036T>A
5g.37064647A>CCA359522397CPLANE1,NIPBLc.8170A>C (p.Ile2724Leu)
c.*114A>C (n.*114A>C)
n.2093A>C
c.70A>C (p.Ile24Leu)
c.*624A>C (n.*624A>C)
c.7426A>C (p.Ile2476Leu)
c.8023A>C (p.Ile2675Leu)
c.7972A>C (p.Ile2658Leu)
c.7789A>C (p.Ile2597Leu)
c.7510A>C (p.Ile2504Leu)
c.6553A>C (p.Ile2185Leu)
c.6544A>C (p.Ile2182Leu)
n.12035T>G
5g.37064647A>GCA359522401CPLANE1,NIPBLc.8170A>G (p.Ile2724Val)
c.*114A>G (n.*114A>G)
n.2093A>G
c.70A>G (p.Ile24Val)
c.*624A>G (n.*624A>G)
c.7426A>G (p.Ile2476Val)
c.8023A>G (p.Ile2675Val)
c.7972A>G (p.Ile2658Val)
c.7789A>G (p.Ile2597Val)
c.7510A>G (p.Ile2504Val)
c.6553A>G (p.Ile2185Val)
c.6544A>G (p.Ile2182Val)
n.12035T>C
5g.37064647A>TCA359522398CPLANE1,NIPBLc.8170A>T (p.Ile2724Phe)
c.*114A>T (n.*114A>T)
n.2093A>T
c.70A>T (p.Ile24Phe)
c.*624A>T (n.*624A>T)
c.7426A>T (p.Ile2476Phe)
c.8023A>T (p.Ile2675Phe)
c.7972A>T (p.Ile2658Phe)
c.7789A>T (p.Ile2597Phe)
c.7510A>T (p.Ile2504Phe)
c.6553A>T (p.Ile2185Phe)
c.6544A>T (p.Ile2182Phe)
n.12035T>A
5g.37064647_37064648delinsATCA1539590349CPLANE1,NIPBLc.8170_8171delinsAT (p.Ile2724=)
c.*114_*115delinsAT (n.*114_*115delinsAT)
n.2093_2094delinsAT
c.70_71delinsAT (p.Ile24=)
c.*624_*625delinsAT (n.*624_*625delinsAT)
c.7426_7427delinsAT (p.Ile2476=)
c.8023_8024delinsAT (p.Ile2675=)
c.7972_7973delinsAT (p.Ile2658=)
c.7789_7790delinsAT (p.Ile2597=)
c.7510_7511delinsAT (p.Ile2504=)
c.6553_6554delinsAT (p.Ile2185=)
c.6544_6545delinsAT (p.Ile2182=)
n.12034_12035delinsAT
5g.37064648T>ACA359522404CPLANE1,NIPBLc.8171T>A (p.Ile2724Asn)
c.*115T>A (n.*115T>A)
n.2094T>A
c.71T>A (p.Ile24Asn)
c.*625T>A (n.*625T>A)
c.7427T>A (p.Ile2476Asn)
c.8024T>A (p.Ile2675Asn)
c.7973T>A (p.Ile2658Asn)
c.7790T>A (p.Ile2597Asn)
c.7511T>A (p.Ile2504Asn)
c.6554T>A (p.Ile2185Asn)
c.6545T>A (p.Ile2182Asn)
n.12034A>T
5g.37064648T>CCA359522407CPLANE1,NIPBLc.8171T>C (p.Ile2724Thr)
c.*115T>C (n.*115T>C)
n.2094T>C
c.71T>C (p.Ile24Thr)
c.*625T>C (n.*625T>C)
c.7427T>C (p.Ile2476Thr)
c.8024T>C (p.Ile2675Thr)
c.7973T>C (p.Ile2658Thr)
c.7790T>C (p.Ile2597Thr)
c.7511T>C (p.Ile2504Thr)
c.6554T>C (p.Ile2185Thr)
c.6545T>C (p.Ile2182Thr)
n.12034A>G
5g.37064648T>GCA359522408CPLANE1,NIPBLc.8171T>G (p.Ile2724Ser)
c.*115T>G (n.*115T>G)
n.2094T>G
c.71T>G (p.Ile24Ser)
c.*625T>G (n.*625T>G)
c.7427T>G (p.Ile2476Ser)
c.8024T>G (p.Ile2675Ser)
c.7973T>G (p.Ile2658Ser)
c.7790T>G (p.Ile2597Ser)
c.7511T>G (p.Ile2504Ser)
c.6554T>G (p.Ile2185Ser)
c.6545T>G (p.Ile2182Ser)
n.12034A>C
5g.37064649delCA117058954CPLANE1,NIPBLc.8172del (p.Ile2724MetfsTer4)
c.*116del (n.*116del)
n.2095del
c.72del (p.Ile24MetfsTer4)
c.*626del (n.*626del)
c.7428del (p.Ile2476MetfsTer4)
c.8025del (p.Ile2675MetfsTer4)
c.7974del (p.Ile2658MetfsTer4)
c.7791del (p.Ile2597MetfsTer4)
c.7512del (p.Ile2504MetfsTer4)
c.6555del (p.Ile2185MetfsTer4)
c.6546del (p.Ile2182MetfsTer4)
n.12034del
 dbSNP
5g.37064649T>ACA444096486CPLANE1,NIPBLc.8172T>A (p.Ile2724=)
c.*116T>A (n.*116T>A)
n.2095T>A
c.72T>A (p.Ile24=)
c.*626T>A (n.*626T>A)
c.7428T>A (p.Ile2476=)
c.8025T>A (p.Ile2675=)
c.7974T>A (p.Ile2658=)
c.7791T>A (p.Ile2597=)
c.7512T>A (p.Ile2504=)
c.6555T>A (p.Ile2185=)
c.6546T>A (p.Ile2182=)
n.12033A>T
5g.37064649T>CCA444096488CPLANE1,NIPBLc.8172T>C (p.Ile2724=)
c.*116T>C (n.*116T>C)
n.2095T>C
c.72T>C (p.Ile24=)
c.*626T>C (n.*626T>C)
c.7428T>C (p.Ile2476=)
c.8025T>C (p.Ile2675=)
c.7974T>C (p.Ile2658=)
c.7791T>C (p.Ile2597=)
c.7512T>C (p.Ile2504=)
c.6555T>C (p.Ile2185=)
c.6546T>C (p.Ile2182=)
n.12033A>G
5g.37064649T>GCA359522411CPLANE1,NIPBLc.8172T>G (p.Ile2724Met)
c.*116T>G (n.*116T>G)
n.2095T>G
c.72T>G (p.Ile24Met)
c.*626T>G (n.*626T>G)
c.7428T>G (p.Ile2476Met)
c.8025T>G (p.Ile2675Met)
c.7974T>G (p.Ile2658Met)
c.7791T>G (p.Ile2597Met)
c.7512T>G (p.Ile2504Met)
c.6555T>G (p.Ile2185Met)
c.6546T>G (p.Ile2182Met)
n.12033A>C
5g.37064650G>ACA359522413CPLANE1,NIPBLc.8173G>A (p.Ala2725Thr)
c.*117G>A (n.*117G>A)
n.2096G>A
c.73G>A (p.Ala25Thr)
c.*627G>A (n.*627G>A)
c.7429G>A (p.Ala2477Thr)
c.8026G>A (p.Ala2676Thr)
c.7975G>A (p.Ala2659Thr)
c.7792G>A (p.Ala2598Thr)
c.7513G>A (p.Ala2505Thr)
c.6556G>A (p.Ala2186Thr)
c.6547G>A (p.Ala2183Thr)
n.12032C>T
5g.37064650G>CCA272323CPLANE1,NIPBLc.8173G>C (p.Ala2725Pro)
c.*117G>C (n.*117G>C)
n.2096G>C
c.73G>C (p.Ala25Pro)
c.*627G>C (n.*627G>C)
c.7429G>C (p.Ala2477Pro)
c.8026G>C (p.Ala2676Pro)
c.7975G>C (p.Ala2659Pro)
c.7792G>C (p.Ala2598Pro)
c.7513G>C (p.Ala2505Pro)
c.6556G>C (p.Ala2186Pro)
c.6547G>C (p.Ala2183Pro)
n.12032C>G
 ClinVar dbSNP
5g.37064650G=CA1539590358CPLANE1,NIPBLc.8173G= (p.Ala2725=)
c.*117G= (n.*117G=)
n.2096G=
c.73G= (p.Ala25=)
c.*627G= (n.*627G=)
c.7429G= (p.Ala2477=)
c.8026G= (p.Ala2676=)
c.7975G= (p.Ala2659=)
c.7792G= (p.Ala2598=)
c.7513G= (p.Ala2505=)
c.6556G= (p.Ala2186=)
c.6547G= (p.Ala2183=)
n.12032C=
5g.37064650G>TCA359522414CPLANE1,NIPBLc.8173G>T (p.Ala2725Ser)
c.*117G>T (n.*117G>T)
n.2096G>T
c.73G>T (p.Ala25Ser)
c.*627G>T (n.*627G>T)
c.7429G>T (p.Ala2477Ser)
c.8026G>T (p.Ala2676Ser)
c.7975G>T (p.Ala2659Ser)
c.7792G>T (p.Ala2598Ser)
c.7513G>T (p.Ala2505Ser)
c.6556G>T (p.Ala2186Ser)
c.6547G>T (p.Ala2183Ser)
n.12032C>A

Number of alleles fetched