Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.160716669_160716671delCA123279PLGc.50-5739_50-5737del (n.50-5739_50-5737del)
c.744_746del (p.Lys248del)
c.693_695del (p.Lys231del)
n.95-5739_95-5737del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.160716669G>ACA453027311PLGc.50-5739G>A (n.50-5739G>A)
c.744G>A (p.Lys248=)
c.693G>A (p.Lys231=)
n.95-5739G>A
6g.160716669G>CCA366362256PLGc.50-5739G>C (n.50-5739G>C)
c.744G>C (p.Lys248Asn)
c.693G>C (p.Lys231Asn)
n.95-5739G>C
6g.160716669G>TCA366362257PLGc.50-5739G>T (n.50-5739G>T)
c.744G>T (p.Lys248Asn)
c.693G>T (p.Lys231Asn)
n.95-5739G>T
6g.160716670A>CCA366362258PLGc.50-5738A>C (n.50-5738A>C)
c.745A>C (p.Asn249His)
c.694A>C (p.Asn232His)
n.95-5738A>C
6g.160716670A>GCA366362259PLGc.50-5738A>G (n.50-5738A>G)
c.745A>G (p.Asn249Asp)
c.694A>G (p.Asn232Asp)
n.95-5738A>G
6g.160716670A>TCA366362260PLGc.50-5738A>T (n.50-5738A>T)
c.745A>T (p.Asn249Tyr)
c.694A>T (p.Asn232Tyr)
n.95-5738A>T
6g.160716671A>CCA366362261PLGc.50-5737A>C (n.50-5737A>C)
c.746A>C (p.Asn249Thr)
c.695A>C (p.Asn232Thr)
n.95-5737A>C
6g.160716671A>GCA366362262PLGc.50-5737A>G (n.50-5737A>G)
c.746A>G (p.Asn249Ser)
c.695A>G (p.Asn232Ser)
n.95-5737A>G
6g.160716671A>TCA366362263PLGc.50-5737A>T (n.50-5737A>T)
c.746A>T (p.Asn249Ile)
c.695A>T (p.Asn232Ile)
n.95-5737A>T
6g.160716672T>ACA366362264PLGc.50-5736T>A (n.50-5736T>A)
c.747T>A (p.Asn249Lys)
c.696T>A (p.Asn232Lys)
n.95-5736T>A
6g.160716672T>CCA453027312PLGc.50-5736T>C (n.50-5736T>C)
c.747T>C (p.Asn249=)
c.696T>C (p.Asn232=)
n.95-5736T>C
6g.160716672T>GCA366362265PLGc.50-5736T>G (n.50-5736T>G)
c.747T>G (p.Asn249Lys)
c.696T>G (p.Asn232Lys)
n.95-5736T>G
6g.160716673T>ACA366362268PLGc.50-5735T>A (n.50-5735T>A)
c.748T>A (p.Tyr250Asn)
c.697T>A (p.Tyr233Asn)
n.95-5735T>A
6g.160716673T>CCA366362266PLGc.50-5735T>C (n.50-5735T>C)
c.748T>C (p.Tyr250His)
c.697T>C (p.Tyr233His)
n.95-5735T>C
6g.160716673T>GCA366362267PLGc.50-5735T>G (n.50-5735T>G)
c.748T>G (p.Tyr250Asp)
c.697T>G (p.Tyr233Asp)
n.95-5735T>G
6g.160716674A>CCA366362269PLGc.50-5734A>C (n.50-5734A>C)
c.749A>C (p.Tyr250Ser)
c.698A>C (p.Tyr233Ser)
n.95-5734A>C
6g.160716674A>GCA366362270PLGc.50-5734A>G (n.50-5734A>G)
c.749A>G (p.Tyr250Cys)
c.698A>G (p.Tyr233Cys)
n.95-5734A>G
6g.160716674A>TCA366362271PLGc.50-5734A>T (n.50-5734A>T)
c.749A>T (p.Tyr250Phe)
c.698A>T (p.Tyr233Phe)
n.95-5734A>T
 gnomAD v4
6g.160716675C>ACA366362272PLGc.50-5733C>A (n.50-5733C>A)
c.750C>A (p.Tyr250Ter)
c.699C>A (p.Tyr233Ter)
n.95-5733C>A
6g.160716675C=CA1677194980PLGc.50-5733C= (n.50-5733C=)
c.750C= (p.Tyr250=)
c.699C= (p.Tyr233=)
n.95-5733C=
6g.160716675C>GCA366362273PLGc.50-5733C>G (n.50-5733C>G)
c.750C>G (p.Tyr250Ter)
c.699C>G (p.Tyr233Ter)
n.95-5733C>G
6g.160716675C>TCA453027313PLGc.50-5733C>T (n.50-5733C>T)
c.750C>T (p.Tyr250=)
c.699C>T (p.Tyr233=)
n.95-5733C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160716676T>ACA366362274PLGc.50-5732T>A (n.50-5732T>A)
c.751T>A (p.Cys251Ser)
c.700T>A (p.Cys234Ser)
n.95-5732T>A
6g.160716676T>CCA366362275PLGc.50-5732T>C (n.50-5732T>C)
c.751T>C (p.Cys251Arg)
c.700T>C (p.Cys234Arg)
n.95-5732T>C
6g.160716676T>GCA366362276PLGc.50-5732T>G (n.50-5732T>G)
c.751T>G (p.Cys251Gly)
c.700T>G (p.Cys234Gly)
n.95-5732T>G
6g.160716677G>ACA366362277PLGc.50-5731G>A (n.50-5731G>A)
c.752G>A (p.Cys251Tyr)
c.701G>A (p.Cys234Tyr)
n.95-5731G>A
 gnomAD v4
6g.160716677G>CCA366362278PLGc.50-5731G>C (n.50-5731G>C)
c.752G>C (p.Cys251Ser)
c.701G>C (p.Cys234Ser)
n.95-5731G>C
6g.160716677G>TCA366362279PLGc.50-5731G>T (n.50-5731G>T)
c.752G>T (p.Cys251Phe)
c.701G>T (p.Cys234Phe)
n.95-5731G>T
6g.160716678T>ACA366362281PLGc.50-5730T>A (n.50-5730T>A)
c.753T>A (p.Cys251Ter)
c.702T>A (p.Cys234Ter)
n.95-5730T>A
6g.160716678T>CCA4087542PLGc.50-5730T>C (n.50-5730T>C)
c.753T>C (p.Cys251=)
c.702T>C (p.Cys234=)
n.95-5730T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716678T>GCA366362280PLGc.50-5730T>G (n.50-5730T>G)
c.753T>G (p.Cys251Trp)
c.702T>G (p.Cys234Trp)
n.95-5730T>G
6g.160716678T=CA1677194981PLGc.50-5730T= (n.50-5730T=)
c.753T= (p.Cys251=)
c.702T= (p.Cys234=)
n.95-5730T=
6g.160716679C>ACA366362282PLGc.50-5729C>A (n.50-5729C>A)
c.754C>A (p.Arg252Ser)
c.703C>A (p.Arg235Ser)
n.95-5729C>A
6g.160716679C=CA1677194982PLGc.50-5729C= (n.50-5729C=)
c.754C= (p.Arg252=)
c.703C= (p.Arg235=)
n.95-5729C=
6g.160716679C>GCA366362283PLGc.50-5729C>G (n.50-5729C>G)
c.754C>G (p.Arg252Gly)
c.703C>G (p.Arg235Gly)
n.95-5729C>G
6g.160716679C>TCA151218161PLGc.50-5729C>T (n.50-5729C>T)
c.754C>T (p.Arg252Cys)
c.703C>T (p.Arg235Cys)
n.95-5729C>T
 dbSNP gnomAD v4
6g.160716680G>ACA123269PLGc.50-5728G>A (n.50-5728G>A)
c.755G>A (p.Arg252His)
c.704G>A (p.Arg235His)
n.95-5728G>A
 ClinVar dbSNP gnomAD v4 COSMIC
6g.160716680G>CCA366362284PLGc.50-5728G>C (n.50-5728G>C)
c.755G>C (p.Arg252Pro)
c.704G>C (p.Arg235Pro)
n.95-5728G>C
6g.160716680G=CA1677194983PLGc.50-5728G= (n.50-5728G=)
c.755G= (p.Arg252=)
c.704G= (p.Arg235=)
n.95-5728G=
6g.160716680G>TCA366362285PLGc.50-5728G>T (n.50-5728G>T)
c.755G>T (p.Arg252Leu)
c.704G>T (p.Arg235Leu)
n.95-5728G>T
6g.160716681T>ACA453027317PLGc.50-5727T>A (n.50-5727T>A)
c.756T>A (p.Arg252=)
c.705T>A (p.Arg235=)
n.95-5727T>A
6g.160716681T>CCA453027318PLGc.50-5727T>C (n.50-5727T>C)
c.756T>C (p.Arg252=)
c.705T>C (p.Arg235=)
n.95-5727T>C
 dbSNP gnomAD v3 gnomAD v4
6g.160716681T>GCA453027319PLGc.50-5727T>G (n.50-5727T>G)
c.756T>G (p.Arg252=)
c.705T>G (p.Arg235=)
n.95-5727T>G
6g.160716681T=CA1677194984PLGc.50-5727T= (n.50-5727T=)
c.756T= (p.Arg252=)
c.705T= (p.Arg235=)
n.95-5727T=
6g.160716681_160716682insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGACA2543109187PLGc.50-5727_50-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA (n.50-5727_50-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA)
c.756_757insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
c.705_706insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
n.95-5727_95-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAGCCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
6g.160716681_160716682insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGACA2505773690PLGc.50-5727_50-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA (n.50-5727_50-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA)
c.756_757insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
c.705_706insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
n.95-5727_95-5726insTGCTGGGATAAGACAGTATATACAGTCTTTTTCGAACCGCCTGATACTTTATCATGTGGTATTATCGTTACACACAATTACACTTTCGGGGGCTAATCCCTCAGACAAAATAGGATACCAATATGA
6g.160716682A>CCA366362288PLGc.50-5726A>C (n.50-5726A>C)
c.757A>C (p.Asn253His)
c.706A>C (p.Asn236His)
n.95-5726A>C
6g.160716682A>GCA366362286PLGc.50-5726A>G (n.50-5726A>G)
c.757A>G (p.Asn253Asp)
c.706A>G (p.Asn236Asp)
n.95-5726A>G
6g.160716682A>TCA366362287PLGc.50-5726A>T (n.50-5726A>T)
c.757A>T (p.Asn253Tyr)
c.706A>T (p.Asn236Tyr)
n.95-5726A>T
6g.160716683A>CCA366362289PLGc.50-5725A>C (n.50-5725A>C)
c.758A>C (p.Asn253Thr)
c.707A>C (p.Asn236Thr)
n.95-5725A>C
6g.160716683A>GCA366362290PLGc.50-5725A>G (n.50-5725A>G)
c.758A>G (p.Asn253Ser)
c.707A>G (p.Asn236Ser)
n.95-5725A>G
6g.160716683A>TCA366362291PLGc.50-5725A>T (n.50-5725A>T)
c.758A>T (p.Asn253Ile)
c.707A>T (p.Asn236Ile)
n.95-5725A>T
6g.160716684C>ACA366362292PLGc.50-5724C>A (n.50-5724C>A)
c.759C>A (p.Asn253Lys)
c.708C>A (p.Asn236Lys)
n.95-5724C>A
 gnomAD v4
6g.160716684C=CA1677194985PLGc.50-5724C= (n.50-5724C=)
c.759C= (p.Asn253=)
c.708C= (p.Asn236=)
n.95-5724C=
6g.160716684C>GCA366362293PLGc.50-5724C>G (n.50-5724C>G)
c.759C>G (p.Asn253Lys)
c.708C>G (p.Asn236Lys)
n.95-5724C>G
6g.160716684C>TCA453027321PLGc.50-5724C>T (n.50-5724C>T)
c.759C>T (p.Asn253=)
c.708C>T (p.Asn236=)
n.95-5724C>T
 dbSNP gnomAD v2 gnomAD v4
6g.160716685C>ACA366362294PLGc.50-5723C>A (n.50-5723C>A)
c.760C>A (p.Pro254Thr)
c.709C>A (p.Pro237Thr)
n.95-5723C>A
6g.160716685C>GCA366362296PLGc.50-5723C>G (n.50-5723C>G)
c.760C>G (p.Pro254Ala)
c.709C>G (p.Pro237Ala)
n.95-5723C>G
6g.160716685C>TCA366362295PLGc.50-5723C>T (n.50-5723C>T)
c.760C>T (p.Pro254Ser)
c.709C>T (p.Pro237Ser)
n.95-5723C>T
6g.160716686C>ACA366362297PLGc.50-5722C>A (n.50-5722C>A)
c.761C>A (p.Pro254His)
c.710C>A (p.Pro237His)
n.95-5722C>A
6g.160716686C>GCA366362298PLGc.50-5722C>G (n.50-5722C>G)
c.761C>G (p.Pro254Arg)
c.710C>G (p.Pro237Arg)
n.95-5722C>G
6g.160716686C>TCA366362299PLGc.50-5722C>T (n.50-5722C>T)
c.761C>T (p.Pro254Leu)
c.710C>T (p.Pro237Leu)
n.95-5722C>T
6g.160716687C>ACA4087544PLGc.50-5721C>A (n.50-5721C>A)
c.762C>A (p.Pro254=)
c.711C>A (p.Pro237=)
n.95-5721C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716687C=CA1677194986PLGc.50-5721C= (n.50-5721C=)
c.762C= (p.Pro254=)
c.711C= (p.Pro237=)
n.95-5721C=
6g.160716687C>GCA453027322PLGc.50-5721C>G (n.50-5721C>G)
c.762C>G (p.Pro254=)
c.711C>G (p.Pro237=)
n.95-5721C>G
 gnomAD v4
6g.160716687C>TCA4087543PLGc.50-5721C>T (n.50-5721C>T)
c.762C>T (p.Pro254=)
c.711C>T (p.Pro237=)
n.95-5721C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716688G>ACA4087545PLGc.50-5720G>A (n.50-5720G>A)
c.763G>A (p.Asp255Asn)
c.712G>A (p.Asp238Asn)
n.95-5720G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716688G>CCA366362300PLGc.50-5720G>C (n.50-5720G>C)
c.763G>C (p.Asp255His)
c.712G>C (p.Asp238His)
n.95-5720G>C
6g.160716688G=CA1677194987PLGc.50-5720G= (n.50-5720G=)
c.763G= (p.Asp255=)
c.712G= (p.Asp238=)
n.95-5720G=
6g.160716688G>TCA366362301PLGc.50-5720G>T (n.50-5720G>T)
c.763G>T (p.Asp255Tyr)
c.712G>T (p.Asp238Tyr)
n.95-5720G>T
 gnomAD v4
6g.160716689A>CCA366362302PLGc.50-5719A>C (n.50-5719A>C)
c.764A>C (p.Asp255Ala)
c.713A>C (p.Asp238Ala)
n.95-5719A>C
6g.160716689A>GCA366362303PLGc.50-5719A>G (n.50-5719A>G)
c.764A>G (p.Asp255Gly)
c.713A>G (p.Asp238Gly)
n.95-5719A>G
 gnomAD v4
6g.160716689A>TCA366362304PLGc.50-5719A>T (n.50-5719A>T)
c.764A>T (p.Asp255Val)
c.713A>T (p.Asp238Val)
n.95-5719A>T
6g.160716690T>ACA366362305PLGc.50-5718T>A (n.50-5718T>A)
c.765T>A (p.Asp255Glu)
c.714T>A (p.Asp238Glu)
n.95-5718T>A
 gnomAD v4
6g.160716690T>CCA4087546PLGc.50-5718T>C (n.50-5718T>C)
c.765T>C (p.Asp255=)
c.714T>C (p.Asp238=)
n.95-5718T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716690T>GCA366362306PLGc.50-5718T>G (n.50-5718T>G)
c.765T>G (p.Asp255Glu)
c.714T>G (p.Asp238Glu)
n.95-5718T>G
6g.160716690T=CA1677194988PLGc.50-5718T= (n.50-5718T=)
c.765T= (p.Asp255=)
c.714T= (p.Asp238=)
n.95-5718T=
6g.160716691A=CA1677194989PLGc.50-5717A= (n.50-5717A=)
c.766A= (p.Arg256=)
c.715A= (p.Arg239=)
n.95-5717A=
6g.160716691A>CCA453027324PLGc.50-5717A>C (n.50-5717A>C)
c.766A>C (p.Arg256=)
c.715A>C (p.Arg239=)
n.95-5717A>C
6g.160716691A>GCA151218186PLGc.50-5717A>G (n.50-5717A>G)
c.766A>G (p.Arg256Gly)
c.715A>G (p.Arg239Gly)
n.95-5717A>G
 dbSNP
6g.160716691A>TCA366362307PLGc.50-5717A>T (n.50-5717A>T)
c.766A>T (p.Arg256Trp)
c.715A>T (p.Arg239Trp)
n.95-5717A>T
6g.160716692G>ACA366362308PLGc.50-5716G>A (n.50-5716G>A)
c.767G>A (p.Arg256Lys)
c.716G>A (p.Arg239Lys)
n.95-5716G>A
 COSMIC
6g.160716692G>CCA366362309PLGc.50-5716G>C (n.50-5716G>C)
c.767G>C (p.Arg256Thr)
c.716G>C (p.Arg239Thr)
n.95-5716G>C
6g.160716692G>TCA366362310PLGc.50-5716G>T (n.50-5716G>T)
c.767G>T (p.Arg256Met)
c.716G>T (p.Arg239Met)
n.95-5716G>T
6g.160716693G>ACA453027326PLGc.50-5715G>A (n.50-5715G>A)
c.768G>A (p.Arg256=)
c.717G>A (p.Arg239=)
n.95-5715G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.160716693G>CCA366362311PLGc.50-5715G>C (n.50-5715G>C)
c.768G>C (p.Arg256Ser)
c.717G>C (p.Arg239Ser)
n.95-5715G>C
 ClinVar dbSNP
6g.160716693G=CA1677194990PLGc.50-5715G= (n.50-5715G=)
c.768G= (p.Arg256=)
c.717G= (p.Arg239=)
n.95-5715G=
6g.160716693G>TCA366362312PLGc.50-5715G>T (n.50-5715G>T)
c.768G>T (p.Arg256Ser)
c.717G>T (p.Arg239Ser)
n.95-5715G>T
6g.160716694G>ACA366362313PLGc.50-5714G>A (n.50-5714G>A)
c.769G>A (p.Glu257Lys)
c.718G>A (p.Glu240Lys)
n.95-5714G>A
 dbSNP gnomAD v2 gnomAD v4
6g.160716694G>CCA366362314PLGc.50-5714G>C (n.50-5714G>C)
c.769G>C (p.Glu257Gln)
c.718G>C (p.Glu240Gln)
n.95-5714G>C
6g.160716694G=CA1677194991PLGc.50-5714G= (n.50-5714G=)
c.769G= (p.Glu257=)
c.718G= (p.Glu240=)
n.95-5714G=
6g.160716694G>TCA366362315PLGc.50-5714G>T (n.50-5714G>T)
c.769G>T (p.Glu257Ter)
c.718G>T (p.Glu240Ter)
n.95-5714G>T
6g.160716695A=CA1677194992PLGc.50-5713A= (n.50-5713A=)
c.770A= (p.Glu257=)
c.719A= (p.Glu240=)
n.95-5713A=
6g.160716695A>CCA366362316PLGc.50-5713A>C (n.50-5713A>C)
c.770A>C (p.Glu257Ala)
c.719A>C (p.Glu240Ala)
n.95-5713A>C
6g.160716695A>GCA366362317PLGc.50-5713A>G (n.50-5713A>G)
c.770A>G (p.Glu257Gly)
c.719A>G (p.Glu240Gly)
n.95-5713A>G
 dbSNP
6g.160716695A>TCA366362318PLGc.50-5713A>T (n.50-5713A>T)
c.770A>T (p.Glu257Val)
c.719A>T (p.Glu240Val)
n.95-5713A>T
6g.160716696G>ACA4087547PLGc.50-5712G>A (n.50-5712G>A)
c.771G>A (p.Glu257=)
c.720G>A (p.Glu240=)
n.95-5712G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716696G>CCA366362320PLGc.50-5712G>C (n.50-5712G>C)
c.771G>C (p.Glu257Asp)
c.720G>C (p.Glu240Asp)
n.95-5712G>C
 dbSNP gnomAD v2 gnomAD v4
6g.160716696G=CA1677194993PLGc.50-5712G= (n.50-5712G=)
c.771G= (p.Glu257=)
c.720G= (p.Glu240=)
n.95-5712G=
6g.160716696G>TCA366362319PLGc.50-5712G>T (n.50-5712G>T)
c.771G>T (p.Glu257Asp)
c.720G>T (p.Glu240Asp)
n.95-5712G>T
6g.160716697C>ACA366362321PLGc.50-5711C>A (n.50-5711C>A)
c.772C>A (p.Leu258Met)
c.721C>A (p.Leu241Met)
n.95-5711C>A
6g.160716697C>GCA366362322PLGc.50-5711C>G (n.50-5711C>G)
c.772C>G (p.Leu258Val)
c.721C>G (p.Leu241Val)
n.95-5711C>G
 gnomAD v4
6g.160716697C>TCA453027328PLGc.50-5711C>T (n.50-5711C>T)
c.772C>T (p.Leu258=)
c.721C>T (p.Leu241=)
n.95-5711C>T
6g.160716698T>ACA366362323PLGc.50-5710T>A (n.50-5710T>A)
c.773T>A (p.Leu258Gln)
c.722T>A (p.Leu241Gln)
n.95-5710T>A
6g.160716698T>CCA366362324PLGc.50-5710T>C (n.50-5710T>C)
c.773T>C (p.Leu258Pro)
c.722T>C (p.Leu241Pro)
n.95-5710T>C
6g.160716698T>GCA366362325PLGc.50-5710T>G (n.50-5710T>G)
c.773T>G (p.Leu258Arg)
c.722T>G (p.Leu241Arg)
n.95-5710T>G
6g.160716699G>ACA453027329PLGc.50-5709G>A (n.50-5709G>A)
c.774G>A (p.Leu258=)
c.723G>A (p.Leu241=)
n.95-5709G>A
6g.160716699G>CCA453027330PLGc.50-5709G>C (n.50-5709G>C)
c.774G>C (p.Leu258=)
c.723G>C (p.Leu241=)
n.95-5709G>C
6g.160716699G>TCA453027331PLGc.50-5709G>T (n.50-5709G>T)
c.774G>T (p.Leu258=)
c.723G>T (p.Leu241=)
n.95-5709G>T
6g.160716700C>ACA4087548PLGc.50-5708C>A (n.50-5708C>A)
c.775C>A (p.Arg259=)
c.724C>A (p.Arg242=)
n.95-5708C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716700C=CA1677194994PLGc.50-5708C= (n.50-5708C=)
c.775C= (p.Arg259=)
c.724C= (p.Arg242=)
n.95-5708C=
6g.160716700C>GCA366362326PLGc.50-5708C>G (n.50-5708C>G)
c.775C>G (p.Arg259Gly)
c.724C>G (p.Arg242Gly)
n.95-5708C>G
6g.160716700C>TCA4087549PLGc.50-5708C>T (n.50-5708C>T)
c.775C>T (p.Arg259Trp)
c.724C>T (p.Arg242Trp)
n.95-5708C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716701G>ACA4087550PLGc.50-5707G>A (n.50-5707G>A)
c.776G>A (p.Arg259Gln)
c.725G>A (p.Arg242Gln)
n.95-5707G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160716701G>CCA366362327PLGc.50-5707G>C (n.50-5707G>C)
c.776G>C (p.Arg259Pro)
c.725G>C (p.Arg242Pro)
n.95-5707G>C
 gnomAD v4
6g.160716701G=CA1677194995PLGc.50-5707G= (n.50-5707G=)
c.776G= (p.Arg259=)
c.725G= (p.Arg242=)
n.95-5707G=
6g.160716701G>TCA366362328PLGc.50-5707G>T (n.50-5707G>T)
c.776G>T (p.Arg259Leu)
c.725G>T (p.Arg242Leu)
n.95-5707G>T
6g.160716702G>ACA453027335PLGc.50-5706G>A (n.50-5706G>A)
c.777G>A (p.Arg259=)
c.726G>A (p.Arg242=)
n.95-5706G>A
6g.160716702G>CCA453027336PLGc.50-5706G>C (n.50-5706G>C)
c.777G>C (p.Arg259=)
c.726G>C (p.Arg242=)
n.95-5706G>C
6g.160716702G>TCA453027337PLGc.50-5706G>T (n.50-5706G>T)
c.777G>T (p.Arg259=)
c.726G>T (p.Arg242=)
n.95-5706G>T
6g.160716703C>ACA366362329PLGc.50-5705C>A (n.50-5705C>A)
c.778C>A (p.Pro260Thr)
c.727C>A (p.Pro243Thr)
n.95-5705C>A
 dbSNP
6g.160716703C=CA1677194996PLGc.50-5705C= (n.50-5705C=)
c.778C= (p.Pro260=)
c.727C= (p.Pro243=)
n.95-5705C=
6g.160716703C>GCA366362330PLGc.50-5705C>G (n.50-5705C>G)
c.778C>G (p.Pro260Ala)
c.727C>G (p.Pro243Ala)
n.95-5705C>G
 gnomAD v4
6g.160716703C>TCA151218198PLGc.50-5705C>T (n.50-5705C>T)
c.778C>T (p.Pro260Ser)
c.727C>T (p.Pro243Ser)
n.95-5705C>T
 dbSNP
6g.160716704C>ACA366362333PLGc.50-5704C>A (n.50-5704C>A)
c.779C>A (p.Pro260His)
c.728C>A (p.Pro243His)
n.95-5704C>A
6g.160716704C>GCA366362332PLGc.50-5704C>G (n.50-5704C>G)
c.779C>G (p.Pro260Arg)
c.728C>G (p.Pro243Arg)
n.95-5704C>G
6g.160716704C>TCA366362331PLGc.50-5704C>T (n.50-5704C>T)
c.779C>T (p.Pro260Leu)
c.728C>T (p.Pro243Leu)
n.95-5704C>T
6g.160716705T>ACA453027342PLGc.50-5703T>A (n.50-5703T>A)
c.780T>A (p.Pro260=)
c.729T>A (p.Pro243=)
n.95-5703T>A
6g.160716705T>CCA453027341PLGc.50-5703T>C (n.50-5703T>C)
c.780T>C (p.Pro260=)
c.729T>C (p.Pro243=)
n.95-5703T>C
6g.160716705T>GCA453027340PLGc.50-5703T>G (n.50-5703T>G)
c.780T>G (p.Pro260=)
c.729T>G (p.Pro243=)
n.95-5703T>G
6g.160716706T>ACA366362334PLGc.50-5702T>A (n.50-5702T>A)
c.781T>A (p.Trp261Arg)
c.730T>A (p.Trp244Arg)
n.95-5702T>A
6g.160716706T>CCA366362335PLGc.50-5702T>C (n.50-5702T>C)
c.781T>C (p.Trp261Arg)
c.730T>C (p.Trp244Arg)
n.95-5702T>C
6g.160716706T>GCA366362336PLGc.50-5702T>G (n.50-5702T>G)
c.781T>G (p.Trp261Gly)
c.730T>G (p.Trp244Gly)
n.95-5702T>G
6g.160716707G>ACA366362337PLGc.50-5701G>A (n.50-5701G>A)
c.782G>A (p.Trp261Ter)
c.731G>A (p.Trp244Ter)
n.95-5701G>A
6g.160716707G>CCA366362338PLGc.50-5701G>C (n.50-5701G>C)
c.782G>C (p.Trp261Ser)
c.731G>C (p.Trp244Ser)
n.95-5701G>C
 gnomAD v4
6g.160716707G>TCA366362339PLGc.50-5701G>T (n.50-5701G>T)
c.782G>T (p.Trp261Leu)
c.731G>T (p.Trp244Leu)
n.95-5701G>T
6g.160716708G>ACA366362340PLGc.50-5700G>A (n.50-5700G>A)
c.783G>A (p.Trp261Ter)
c.732G>A (p.Trp244Ter)
n.95-5700G>A
 gnomAD v4
6g.160716708G>CCA366362341PLGc.50-5700G>C (n.50-5700G>C)
c.783G>C (p.Trp261Cys)
c.732G>C (p.Trp244Cys)
n.95-5700G>C
6g.160716708G=CA1677194997PLGc.50-5700G= (n.50-5700G=)
c.783G= (p.Trp261=)
c.732G= (p.Trp244=)
n.95-5700G=
6g.160716708G>TCA366362342PLGc.50-5700G>T (n.50-5700G>T)
c.783G>T (p.Trp261Cys)
c.732G>T (p.Trp244Cys)
n.95-5700G>T
 dbSNP gnomAD v2
6g.160716709T>ACA366362343PLGc.50-5699T>A (n.50-5699T>A)
c.784T>A (p.Cys262Ser)
c.733T>A (p.Cys245Ser)
n.95-5699T>A
6g.160716709T>CCA366362344PLGc.50-5699T>C (n.50-5699T>C)
c.784T>C (p.Cys262Arg)
c.733T>C (p.Cys245Arg)
n.95-5699T>C
6g.160716709T>GCA366362345PLGc.50-5699T>G (n.50-5699T>G)
c.784T>G (p.Cys262Gly)
c.733T>G (p.Cys245Gly)
n.95-5699T>G
6g.160716710G>ACA366362348PLGc.50-5698G>A (n.50-5698G>A)
c.785G>A (p.Cys262Tyr)
c.734G>A (p.Cys245Tyr)
n.95-5698G>A
 gnomAD v4
6g.160716710G>CCA366362347PLGc.50-5698G>C (n.50-5698G>C)
c.785G>C (p.Cys262Ser)
c.734G>C (p.Cys245Ser)
n.95-5698G>C
6g.160716710G>TCA366362346PLGc.50-5698G>T (n.50-5698G>T)
c.785G>T (p.Cys262Phe)
c.734G>T (p.Cys245Phe)
n.95-5698G>T
6g.160716711T>ACA366362349PLGc.50-5697T>A (n.50-5697T>A)
c.786T>A (p.Cys262Ter)
c.735T>A (p.Cys245Ter)
n.95-5697T>A
6g.160716711T>CCA453027346PLGc.50-5697T>C (n.50-5697T>C)
c.786T>C (p.Cys262=)
c.735T>C (p.Cys245=)
n.95-5697T>C
6g.160716711T>GCA366362350PLGc.50-5697T>G (n.50-5697T>G)
c.786T>G (p.Cys262Trp)
c.735T>G (p.Cys245Trp)
n.95-5697T>G
6g.160716712T>ACA366362351PLGc.50-5696T>A (n.50-5696T>A)
c.787T>A (p.Phe263Ile)
c.736T>A (p.Phe246Ile)
n.95-5696T>A
6g.160716712T>CCA366362352PLGc.50-5696T>C (n.50-5696T>C)
c.787T>C (p.Phe263Leu)
c.736T>C (p.Phe246Leu)
n.95-5696T>C
6g.160716712T>GCA366362353PLGc.50-5696T>G (n.50-5696T>G)
c.787T>G (p.Phe263Val)
c.736T>G (p.Phe246Val)
n.95-5696T>G
6g.160716713T>ACA366362354PLGc.50-5695T>A (n.50-5695T>A)
c.788T>A (p.Phe263Tyr)
c.737T>A (p.Phe246Tyr)
n.95-5695T>A
6g.160716713T>CCA366362355PLGc.50-5695T>C (n.50-5695T>C)
c.788T>C (p.Phe263Ser)
c.737T>C (p.Phe246Ser)
n.95-5695T>C
6g.160716713T>GCA366362356PLGc.50-5695T>G (n.50-5695T>G)
c.788T>G (p.Phe263Cys)
c.737T>G (p.Phe246Cys)
n.95-5695T>G
6g.160716714C>ACA4087551PLGc.50-5694C>A (n.50-5694C>A)
c.789C>A (p.Phe263Leu)
c.738C>A (p.Phe246Leu)
n.95-5694C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716714C=CA1677194998PLGc.50-5694C= (n.50-5694C=)
c.789C= (p.Phe263=)
c.738C= (p.Phe246=)
n.95-5694C=
6g.160716714C>GCA366362357PLGc.50-5694C>G (n.50-5694C>G)
c.789C>G (p.Phe263Leu)
c.738C>G (p.Phe246Leu)
n.95-5694C>G
6g.160716714C>TCA453027348PLGc.50-5694C>T (n.50-5694C>T)
c.789C>T (p.Phe263=)
c.738C>T (p.Phe246=)
n.95-5694C>T
6g.160716715A>CCA366362358PLGc.50-5693A>C (n.50-5693A>C)
c.790A>C (p.Thr264Pro)
c.739A>C (p.Thr247Pro)
n.95-5693A>C
6g.160716715A>GCA366362359PLGc.50-5693A>G (n.50-5693A>G)
c.790A>G (p.Thr264Ala)
c.739A>G (p.Thr247Ala)
n.95-5693A>G
6g.160716715A>TCA366362360PLGc.50-5693A>T (n.50-5693A>T)
c.790A>T (p.Thr264Ser)
c.739A>T (p.Thr247Ser)
n.95-5693A>T
6g.160716716C>ACA366362362PLGc.50-5692C>A (n.50-5692C>A)
c.791C>A (p.Thr264Asn)
c.740C>A (p.Thr247Asn)
n.95-5692C>A
6g.160716716C>GCA366362363PLGc.50-5692C>G (n.50-5692C>G)
c.791C>G (p.Thr264Ser)
c.740C>G (p.Thr247Ser)
n.95-5692C>G
 ClinVar
6g.160716716C>TCA366362361PLGc.50-5692C>T (n.50-5692C>T)
c.791C>T (p.Thr264Ile)
c.740C>T (p.Thr247Ile)
n.95-5692C>T
6g.160716717delCA2681089587PLGc.50-5691del (n.50-5691del)
c.792del (p.Thr265ProfsTer29)
c.741del (p.Thr248ProfsTer29)
n.95-5691del
 gnomAD v4
6g.160716717C>ACA453027349PLGc.50-5691C>A (n.50-5691C>A)
c.792C>A (p.Thr264=)
c.741C>A (p.Thr247=)
n.95-5691C>A
 gnomAD v4
6g.160716717C>GCA453027350PLGc.50-5691C>G (n.50-5691C>G)
c.792C>G (p.Thr264=)
c.741C>G (p.Thr247=)
n.95-5691C>G
6g.160716717C>TCA453027351PLGc.50-5691C>T (n.50-5691C>T)
c.792C>T (p.Thr264=)
c.741C>T (p.Thr247=)
n.95-5691C>T
6g.160716718A>CCA366362364PLGc.50-5690A>C (n.50-5690A>C)
c.793A>C (p.Thr265Pro)
c.742A>C (p.Thr248Pro)
n.95-5690A>C
6g.160716718A>GCA366362366PLGc.50-5690A>G (n.50-5690A>G)
c.793A>G (p.Thr265Ala)
c.742A>G (p.Thr248Ala)
n.95-5690A>G
 gnomAD v4
6g.160716718A>TCA366362365PLGc.50-5690A>T (n.50-5690A>T)
c.793A>T (p.Thr265Ser)
c.742A>T (p.Thr248Ser)
n.95-5690A>T
6g.160716719C>ACA366362367PLGc.50-5689C>A (n.50-5689C>A)
c.794C>A (p.Thr265Asn)
c.743C>A (p.Thr248Asn)
n.95-5689C>A
6g.160716719C=CA1677194999PLGc.50-5689C= (n.50-5689C=)
c.794C= (p.Thr265=)
c.743C= (p.Thr248=)
n.95-5689C=
6g.160716719C>GCA366362368PLGc.50-5689C>G (n.50-5689C>G)
c.794C>G (p.Thr265Ser)
c.743C>G (p.Thr248Ser)
n.95-5689C>G
6g.160716719C>TCA4087552PLGc.50-5689C>T (n.50-5689C>T)
c.794C>T (p.Thr265Ile)
c.743C>T (p.Thr248Ile)
n.95-5689C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716720C>ACA4087553PLGc.50-5688C>A (n.50-5688C>A)
c.795C>A (p.Thr265=)
c.744C>A (p.Thr248=)
n.95-5688C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.160716720C=CA1677195000PLGc.50-5688C= (n.50-5688C=)
c.795C= (p.Thr265=)
c.744C= (p.Thr248=)
n.95-5688C=
6g.160716720C>GCA453027352PLGc.50-5688C>G (n.50-5688C>G)
c.795C>G (p.Thr265=)
c.744C>G (p.Thr248=)
n.95-5688C>G
6g.160716720C>TCA4087554PLGc.50-5688C>T (n.50-5688C>T)
c.795C>T (p.Thr265=)
c.744C>T (p.Thr248=)
n.95-5688C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160716721G>ACA4087555PLGc.50-5687G>A (n.50-5687G>A)
c.796G>A (p.Asp266Asn)
c.745G>A (p.Asp249Asn)
n.95-5687G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716721G>CCA366362369PLGc.50-5687G>C (n.50-5687G>C)
c.796G>C (p.Asp266His)
c.745G>C (p.Asp249His)
n.95-5687G>C
6g.160716721G=CA1677195001PLGc.50-5687G= (n.50-5687G=)
c.796G= (p.Asp266=)
c.745G= (p.Asp249=)
n.95-5687G=
6g.160716721G>TCA4087556PLGc.50-5687G>T (n.50-5687G>T)
c.796G>T (p.Asp266Tyr)
c.745G>T (p.Asp249Tyr)
n.95-5687G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716722A>CCA366362370PLGc.50-5686A>C (n.50-5686A>C)
c.797A>C (p.Asp266Ala)
c.746A>C (p.Asp249Ala)
n.95-5686A>C
6g.160716722A>GCA366362371PLGc.50-5686A>G (n.50-5686A>G)
c.797A>G (p.Asp266Gly)
c.746A>G (p.Asp249Gly)
n.95-5686A>G
6g.160716722A>TCA366362372PLGc.50-5686A>T (n.50-5686A>T)
c.797A>T (p.Asp266Val)
c.746A>T (p.Asp249Val)
n.95-5686A>T
6g.160716723C>ACA366362374PLGc.50-5685C>A (n.50-5685C>A)
c.798C>A (p.Asp266Glu)
c.747C>A (p.Asp249Glu)
n.95-5685C>A
 COSMIC
6g.160716723C=CA1677195002PLGc.50-5685C= (n.50-5685C=)
c.798C= (p.Asp266=)
c.747C= (p.Asp249=)
n.95-5685C=
6g.160716723C>GCA366362373PLGc.50-5685C>G (n.50-5685C>G)
c.798C>G (p.Asp266Glu)
c.747C>G (p.Asp249Glu)
n.95-5685C>G
6g.160716723C>TCA453027354PLGc.50-5685C>T (n.50-5685C>T)
c.798C>T (p.Asp266=)
c.747C>T (p.Asp249=)
n.95-5685C>T
 dbSNP gnomAD v4
6g.160716724C>ACA366362375PLGc.50-5684C>A (n.50-5684C>A)
c.799C>A (p.Pro267Thr)
c.748C>A (p.Pro250Thr)
n.95-5684C>A
6g.160716724C>GCA366362376PLGc.50-5684C>G (n.50-5684C>G)
c.799C>G (p.Pro267Ala)
c.748C>G (p.Pro250Ala)
n.95-5684C>G
6g.160716724C>TCA366362377PLGc.50-5684C>T (n.50-5684C>T)
c.799C>T (p.Pro267Ser)
c.748C>T (p.Pro250Ser)
n.95-5684C>T
 gnomAD v4
6g.160716725C>ACA366362378PLGc.50-5683C>A (n.50-5683C>A)
c.800C>A (p.Pro267His)
c.749C>A (p.Pro250His)
n.95-5683C>A
6g.160716725C=CA1677195003PLGc.50-5683C= (n.50-5683C=)
c.800C= (p.Pro267=)
c.749C= (p.Pro250=)
n.95-5683C=
6g.160716725C>GCA366362379PLGc.50-5683C>G (n.50-5683C>G)
c.800C>G (p.Pro267Arg)
c.749C>G (p.Pro250Arg)
n.95-5683C>G
6g.160716725C>TCA4087557PLGc.50-5683C>T (n.50-5683C>T)
c.800C>T (p.Pro267Leu)
c.749C>T (p.Pro250Leu)
n.95-5683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716726C>ACA453027358PLGc.50-5682C>A (n.50-5682C>A)
c.801C>A (p.Pro267=)
c.750C>A (p.Pro250=)
n.95-5682C>A
6g.160716726C>GCA453027360PLGc.50-5682C>G (n.50-5682C>G)
c.801C>G (p.Pro267=)
c.750C>G (p.Pro250=)
n.95-5682C>G
6g.160716726C>TCA453027357PLGc.50-5682C>T (n.50-5682C>T)
c.801C>T (p.Pro267=)
c.750C>T (p.Pro250=)
n.95-5682C>T
 gnomAD v4
6g.160716727A=CA1677195004PLGc.50-5681A= (n.50-5681A=)
c.802A= (p.Asn268=)
c.751A= (p.Asn251=)
n.95-5681A=
6g.160716727A>CCA4087558PLGc.50-5681A>C (n.50-5681A>C)
c.802A>C (p.Asn268His)
c.751A>C (p.Asn251His)
n.95-5681A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716727A>GCA366362380PLGc.50-5681A>G (n.50-5681A>G)
c.802A>G (p.Asn268Asp)
c.751A>G (p.Asn251Asp)
n.95-5681A>G
6g.160716727A>TCA366362381PLGc.50-5681A>T (n.50-5681A>T)
c.802A>T (p.Asn268Tyr)
c.751A>T (p.Asn251Tyr)
n.95-5681A>T
6g.160716728A=CA1677195005PLGc.50-5680A= (n.50-5680A=)
c.803A= (p.Asn268=)
c.752A= (p.Asn251=)
n.95-5680A=
6g.160716728A>CCA366362382PLGc.50-5680A>C (n.50-5680A>C)
c.803A>C (p.Asn268Thr)
c.752A>C (p.Asn251Thr)
n.95-5680A>C
6g.160716728A>GCA4087559PLGc.50-5680A>G (n.50-5680A>G)
c.803A>G (p.Asn268Ser)
c.752A>G (p.Asn251Ser)
n.95-5680A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716728A>TCA366362383PLGc.50-5680A>T (n.50-5680A>T)
c.803A>T (p.Asn268Ile)
c.752A>T (p.Asn251Ile)
n.95-5680A>T
6g.160716729C>ACA366362385PLGc.50-5679C>A (n.50-5679C>A)
c.804C>A (p.Asn268Lys)
c.753C>A (p.Asn251Lys)
n.95-5679C>A
 gnomAD v4
6g.160716729C>GCA366362384PLGc.50-5679C>G (n.50-5679C>G)
c.804C>G (p.Asn268Lys)
c.753C>G (p.Asn251Lys)
n.95-5679C>G
6g.160716729C>TCA453027361PLGc.50-5679C>T (n.50-5679C>T)
c.804C>T (p.Asn268=)
c.753C>T (p.Asn251=)
n.95-5679C>T
 gnomAD v4
6g.160716730A>CCA366362386PLGc.50-5678A>C (n.50-5678A>C)
c.805A>C (p.Lys269Gln)
c.754A>C (p.Lys252Gln)
n.95-5678A>C
6g.160716730A>GCA366362387PLGc.50-5678A>G (n.50-5678A>G)
c.805A>G (p.Lys269Glu)
c.754A>G (p.Lys252Glu)
n.95-5678A>G
 gnomAD v4
6g.160716730A>TCA366362388PLGc.50-5678A>T (n.50-5678A>T)
c.805A>T (p.Lys269Ter)
c.754A>T (p.Lys252Ter)
n.95-5678A>T
6g.160716731A>CCA366362389PLGc.50-5677A>C (n.50-5677A>C)
c.806A>C (p.Lys269Thr)
c.755A>C (p.Lys252Thr)
n.95-5677A>C
6g.160716731A>GCA366362390PLGc.50-5677A>G (n.50-5677A>G)
c.806A>G (p.Lys269Arg)
c.755A>G (p.Lys252Arg)
n.95-5677A>G
6g.160716731A>TCA366362391PLGc.50-5677A>T (n.50-5677A>T)
c.806A>T (p.Lys269Met)
c.755A>T (p.Lys252Met)
n.95-5677A>T
6g.160716732G>ACA453027365PLGc.50-5676G>A (n.50-5676G>A)
c.807G>A (p.Lys269=)
c.756G>A (p.Lys252=)
n.95-5676G>A
 gnomAD v4 COSMIC
6g.160716732G>CCA366362393PLGc.50-5676G>C (n.50-5676G>C)
c.807G>C (p.Lys269Asn)
c.756G>C (p.Lys252Asn)
n.95-5676G>C
 dbSNP gnomAD v2 gnomAD v4
6g.160716732G=CA1677195006PLGc.50-5676G= (n.50-5676G=)
c.807G= (p.Lys269=)
c.756G= (p.Lys252=)
n.95-5676G=
6g.160716732G>TCA366362392PLGc.50-5676G>T (n.50-5676G>T)
c.807G>T (p.Lys269Asn)
c.756G>T (p.Lys252Asn)
n.95-5676G>T
6g.160716733C>ACA366362394PLGc.50-5675C>A (n.50-5675C>A)
c.808C>A (p.Arg270Ser)
c.757C>A (p.Arg253Ser)
n.95-5675C>A
 gnomAD v4
6g.160716733C=CA1677195007PLGc.50-5675C= (n.50-5675C=)
c.808C= (p.Arg270=)
c.757C= (p.Arg253=)
n.95-5675C=
6g.160716733C>GCA366362395PLGc.50-5675C>G (n.50-5675C>G)
c.808C>G (p.Arg270Gly)
c.757C>G (p.Arg253Gly)
n.95-5675C>G
6g.160716733C>TCA4087560PLGc.50-5675C>T (n.50-5675C>T)
c.808C>T (p.Arg270Cys)
c.757C>T (p.Arg253Cys)
n.95-5675C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716734G>ACA4087561PLGc.50-5674G>A (n.50-5674G>A)
c.809G>A (p.Arg270His)
c.758G>A (p.Arg253His)
n.95-5674G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.160716734G>CCA366362396PLGc.50-5674G>C (n.50-5674G>C)
c.809G>C (p.Arg270Pro)
c.758G>C (p.Arg253Pro)
n.95-5674G>C
6g.160716734G=CA1677195008PLGc.50-5674G= (n.50-5674G=)
c.809G= (p.Arg270=)
c.758G= (p.Arg253=)
n.95-5674G=
6g.160716734G>TCA366362397PLGc.50-5674G>T (n.50-5674G>T)
c.809G>T (p.Arg270Leu)
c.758G>T (p.Arg253Leu)
n.95-5674G>T
 gnomAD v4
6g.160716735C>ACA453027369PLGc.50-5673C>A (n.50-5673C>A)
c.810C>A (p.Arg270=)
c.759C>A (p.Arg253=)
n.95-5673C>A
6g.160716735C>GCA453027371PLGc.50-5673C>G (n.50-5673C>G)
c.810C>G (p.Arg270=)
c.759C>G (p.Arg253=)
n.95-5673C>G
6g.160716735C>TCA453027370PLGc.50-5673C>T (n.50-5673C>T)
c.810C>T (p.Arg270=)
c.759C>T (p.Arg253=)
n.95-5673C>T
6g.160716736T>ACA366362398PLGc.50-5672T>A (n.50-5672T>A)
c.811T>A (p.Trp271Arg)
c.760T>A (p.Trp254Arg)
n.95-5672T>A
 gnomAD v4
6g.160716736T>CCA366362400PLGc.50-5672T>C (n.50-5672T>C)
c.811T>C (p.Trp271Arg)
c.760T>C (p.Trp254Arg)
n.95-5672T>C
6g.160716736T>GCA366362399PLGc.50-5672T>G (n.50-5672T>G)
c.811T>G (p.Trp271Gly)
c.760T>G (p.Trp254Gly)
n.95-5672T>G
6g.160716739_160716798delCA2681089634PLGc.50-5669_50-5610del (n.50-5669_50-5610del)
c.814_838+35del
c.763_787+35del
n.95-5669_95-5610del
 gnomAD v4
6g.160716737G>ACA366362401PLGc.50-5671G>A (n.50-5671G>A)
c.812G>A (p.Trp271Ter)
c.761G>A (p.Trp254Ter)
n.95-5671G>A
6g.160716737G>CCA366362402PLGc.50-5671G>C (n.50-5671G>C)
c.812G>C (p.Trp271Ser)
c.761G>C (p.Trp254Ser)
n.95-5671G>C
6g.160716737G>TCA366362403PLGc.50-5671G>T (n.50-5671G>T)
c.812G>T (p.Trp271Leu)
c.761G>T (p.Trp254Leu)
n.95-5671G>T
6g.160716739delCA2681089638PLGc.50-5669del (n.50-5669del)
c.814del (p.Glu272AsnfsTer22)
c.763del (p.Glu255AsnfsTer22)
n.95-5669del
 gnomAD v4
6g.160716738G>ACA366362404PLGc.50-5670G>A (n.50-5670G>A)
c.813G>A (p.Trp271Ter)
c.762G>A (p.Trp254Ter)
n.95-5670G>A
6g.160716738G>CCA366362405PLGc.50-5670G>C (n.50-5670G>C)
c.813G>C (p.Trp271Cys)
c.762G>C (p.Trp254Cys)
n.95-5670G>C
6g.160716738G>TCA366362406PLGc.50-5670G>T (n.50-5670G>T)
c.813G>T (p.Trp271Cys)
c.762G>T (p.Trp254Cys)
n.95-5670G>T
6g.160716739G>ACA4087562PLGc.50-5669G>A (n.50-5669G>A)
c.814G>A (p.Glu272Lys)
c.763G>A (p.Glu255Lys)
n.95-5669G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.160716739G>CCA4087563PLGc.50-5669G>C (n.50-5669G>C)
c.814G>C (p.Glu272Gln)
c.763G>C (p.Glu255Gln)
n.95-5669G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716739G=CA1677195009PLGc.50-5669G= (n.50-5669G=)
c.814G= (p.Glu272=)
c.763G= (p.Glu255=)
n.95-5669G=
6g.160716739G>TCA366362407PLGc.50-5669G>T (n.50-5669G>T)
c.814G>T (p.Glu272Ter)
c.763G>T (p.Glu255Ter)
n.95-5669G>T
6g.160716740A>CCA366362408PLGc.50-5668A>C (n.50-5668A>C)
c.815A>C (p.Glu272Ala)
c.764A>C (p.Glu255Ala)
n.95-5668A>C
6g.160716740A>GCA366362409PLGc.50-5668A>G (n.50-5668A>G)
c.815A>G (p.Glu272Gly)
c.764A>G (p.Glu255Gly)
n.95-5668A>G
6g.160716740A>TCA366362410PLGc.50-5668A>T (n.50-5668A>T)
c.815A>T (p.Glu272Val)
c.764A>T (p.Glu255Val)
n.95-5668A>T
6g.160716741A>CCA366362411PLGc.50-5667A>C (n.50-5667A>C)
c.816A>C (p.Glu272Asp)
c.765A>C (p.Glu255Asp)
n.95-5667A>C
6g.160716741A>GCA453027374PLGc.50-5667A>G (n.50-5667A>G)
c.816A>G (p.Glu272=)
c.765A>G (p.Glu255=)
n.95-5667A>G
6g.160716741A>TCA366362412PLGc.50-5667A>T (n.50-5667A>T)
c.816A>T (p.Glu272Asp)
c.765A>T (p.Glu255Asp)
n.95-5667A>T
6g.160716742C>ACA366362413PLGc.50-5666C>A (n.50-5666C>A)
c.817C>A (p.Leu273Ile)
c.766C>A (p.Leu256Ile)
n.95-5666C>A
 gnomAD v4
6g.160716742C>GCA366362415PLGc.50-5666C>G (n.50-5666C>G)
c.817C>G (p.Leu273Val)
c.766C>G (p.Leu256Val)
n.95-5666C>G
6g.160716742C>TCA366362414PLGc.50-5666C>T (n.50-5666C>T)
c.817C>T (p.Leu273Phe)
c.766C>T (p.Leu256Phe)
n.95-5666C>T
6g.160716743T>ACA366362416PLGc.50-5665T>A (n.50-5665T>A)
c.818T>A (p.Leu273His)
c.767T>A (p.Leu256His)
n.95-5665T>A
6g.160716743T>CCA366362418PLGc.50-5665T>C (n.50-5665T>C)
c.818T>C (p.Leu273Pro)
c.767T>C (p.Leu256Pro)
n.95-5665T>C
6g.160716743T>GCA366362417PLGc.50-5665T>G (n.50-5665T>G)
c.818T>G (p.Leu273Arg)
c.767T>G (p.Leu256Arg)
n.95-5665T>G
6g.160716744T>ACA453027380PLGc.50-5664T>A (n.50-5664T>A)
c.819T>A (p.Leu273=)
c.768T>A (p.Leu256=)
n.95-5664T>A
6g.160716744T>CCA453027378PLGc.50-5664T>C (n.50-5664T>C)
c.819T>C (p.Leu273=)
c.768T>C (p.Leu256=)
n.95-5664T>C
6g.160716744T>GCA453027379PLGc.50-5664T>G (n.50-5664T>G)
c.819T>G (p.Leu273=)
c.768T>G (p.Leu256=)
n.95-5664T>G
 ClinVar dbSNP
6g.160716744T=CA1677195010PLGc.50-5664T= (n.50-5664T=)
c.819T= (p.Leu273=)
c.768T= (p.Leu256=)
n.95-5664T=
6g.160716745T>ACA366362419PLGc.50-5663T>A (n.50-5663T>A)
c.820T>A (p.Cys274Ser)
c.769T>A (p.Cys257Ser)
n.95-5663T>A
6g.160716745T>CCA366362421PLGc.50-5663T>C (n.50-5663T>C)
c.820T>C (p.Cys274Arg)
c.769T>C (p.Cys257Arg)
n.95-5663T>C
 gnomAD v4
6g.160716745T>GCA366362420PLGc.50-5663T>G (n.50-5663T>G)
c.820T>G (p.Cys274Gly)
c.769T>G (p.Cys257Gly)
n.95-5663T>G
6g.160716746G>ACA366362422PLGc.50-5662G>A (n.50-5662G>A)
c.821G>A (p.Cys274Tyr)
c.770G>A (p.Cys257Tyr)
n.95-5662G>A
 gnomAD v4
6g.160716746G>CCA366362424PLGc.50-5662G>C (n.50-5662G>C)
c.821G>C (p.Cys274Ser)
c.770G>C (p.Cys257Ser)
n.95-5662G>C
6g.160716746G>TCA366362423PLGc.50-5662G>T (n.50-5662G>T)
c.821G>T (p.Cys274Phe)
c.770G>T (p.Cys257Phe)
n.95-5662G>T
6g.160716747T>ACA366362425PLGc.50-5661T>A (n.50-5661T>A)
c.822T>A (p.Cys274Ter)
c.771T>A (p.Cys257Ter)
n.95-5661T>A
 gnomAD v4
6g.160716747T>CCA4087564PLGc.50-5661T>C (n.50-5661T>C)
c.822T>C (p.Cys274=)
c.771T>C (p.Cys257=)
n.95-5661T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716747T>GCA366362426PLGc.50-5661T>G (n.50-5661T>G)
c.822T>G (p.Cys274Trp)
c.771T>G (p.Cys257Trp)
n.95-5661T>G
 gnomAD v4
6g.160716747T=CA1677195011PLGc.50-5661T= (n.50-5661T=)
c.822T= (p.Cys274=)
c.771T= (p.Cys257=)
n.95-5661T=
6g.160716747_160716748delinsCACA2580075303PLGc.50-5661_50-5660delinsCA (n.50-5661_50-5660delinsCA)
c.822_823delinsCA (p.Asp275Asn)
c.771_772delinsCA (p.Asp258Asn)
n.95-5661_95-5660delinsCA
 ClinVar
6g.160716748delCA2578790601PLGc.50-5660del (n.50-5660del)
c.823del (p.Asp275ThrfsTer19)
c.772del (p.Asp258ThrfsTer19)
n.95-5660del
6g.160716748G>ACA4087565PLGc.50-5660G>A (n.50-5660G>A)
c.823G>A (p.Asp275Asn)
c.772G>A (p.Asp258Asn)
n.95-5660G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716748G>CCA366362427PLGc.50-5660G>C (n.50-5660G>C)
c.823G>C (p.Asp275His)
c.772G>C (p.Asp258His)
n.95-5660G>C
6g.160716748G=CA1677195012PLGc.50-5660G= (n.50-5660G=)
c.823G= (p.Asp275=)
c.772G= (p.Asp258=)
n.95-5660G=
6g.160716748G>TCA366362428PLGc.50-5660G>T (n.50-5660G>T)
c.823G>T (p.Asp275Tyr)
c.772G>T (p.Asp258Tyr)
n.95-5660G>T
6g.160716749A>CCA366362429PLGc.50-5659A>C (n.50-5659A>C)
c.824A>C (p.Asp275Ala)
c.773A>C (p.Asp258Ala)
n.95-5659A>C
6g.160716749A>GCA366362430PLGc.50-5659A>G (n.50-5659A>G)
c.824A>G (p.Asp275Gly)
c.773A>G (p.Asp258Gly)
n.95-5659A>G
 gnomAD v4
6g.160716749A>TCA366362431PLGc.50-5659A>T (n.50-5659A>T)
c.824A>T (p.Asp275Val)
c.773A>T (p.Asp258Val)
n.95-5659A>T
6g.160716750C>ACA366362432PLGc.50-5658C>A (n.50-5658C>A)
c.825C>A (p.Asp275Glu)
c.774C>A (p.Asp258Glu)
n.95-5658C>A
 gnomAD v4
6g.160716750C>GCA366362433PLGc.50-5658C>G (n.50-5658C>G)
c.825C>G (p.Asp275Glu)
c.774C>G (p.Asp258Glu)
n.95-5658C>G
6g.160716750C>TCA453027383PLGc.50-5658C>T (n.50-5658C>T)
c.825C>T (p.Asp275=)
c.774C>T (p.Asp258=)
n.95-5658C>T
 gnomAD v4
6g.160716751A>CCA366362436PLGc.50-5657A>C (n.50-5657A>C)
c.826A>C (p.Ile276Leu)
c.775A>C (p.Ile259Leu)
n.95-5657A>C
6g.160716751A>GCA366362434PLGc.50-5657A>G (n.50-5657A>G)
c.826A>G (p.Ile276Val)
c.775A>G (p.Ile259Val)
n.95-5657A>G
6g.160716751A>TCA366362435PLGc.50-5657A>T (n.50-5657A>T)
c.826A>T (p.Ile276Phe)
c.775A>T (p.Ile259Phe)
n.95-5657A>T
6g.160716752T>ACA366362437PLGc.50-5656T>A (n.50-5656T>A)
c.827T>A (p.Ile276Asn)
c.776T>A (p.Ile259Asn)
n.95-5656T>A
 gnomAD v4
6g.160716752T>CCA366362438PLGc.50-5656T>C (n.50-5656T>C)
c.827T>C (p.Ile276Thr)
c.776T>C (p.Ile259Thr)
n.95-5656T>C
 gnomAD v4
6g.160716752T>GCA366362439PLGc.50-5656T>G (n.50-5656T>G)
c.827T>G (p.Ile276Ser)
c.776T>G (p.Ile259Ser)
n.95-5656T>G
6g.160716753C>ACA453027385PLGc.50-5655C>A (n.50-5655C>A)
c.828C>A (p.Ile276=)
c.777C>A (p.Ile259=)
n.95-5655C>A
 dbSNP gnomAD v4
6g.160716753C>GCA366362440PLGc.50-5655C>G (n.50-5655C>G)
c.828C>G (p.Ile276Met)
c.777C>G (p.Ile259Met)
n.95-5655C>G
6g.160716753C>TCA453027387PLGc.50-5655C>T (n.50-5655C>T)
c.828C>T (p.Ile276=)
c.777C>T (p.Ile259=)
n.95-5655C>T
 gnomAD v4 COSMIC
6g.160716757dupCA2681089660PLGc.50-5651dup (n.50-5651dup)
c.832dup (p.Arg278ProfsTer21)
c.781dup (p.Arg261ProfsTer21)
n.95-5651dup
 gnomAD v4
6g.160716757delCA2681089662PLGc.50-5651del (n.50-5651del)
c.832del (p.Arg278AlafsTer16)
c.781del (p.Arg261AlafsTer16)
n.95-5651del
 gnomAD v4
6g.160716754C>ACA366362441PLGc.50-5654C>A (n.50-5654C>A)
c.829C>A (p.Pro277Thr)
c.778C>A (p.Pro260Thr)
n.95-5654C>A
 gnomAD v4
6g.160716754C>GCA366362442PLGc.50-5654C>G (n.50-5654C>G)
c.829C>G (p.Pro277Ala)
c.778C>G (p.Pro260Ala)
n.95-5654C>G
 ClinVar
6g.160716754C>TCA366362443PLGc.50-5654C>T (n.50-5654C>T)
c.829C>T (p.Pro277Ser)
c.778C>T (p.Pro260Ser)
n.95-5654C>T
6g.160716755C>ACA366362444PLGc.50-5653C>A (n.50-5653C>A)
c.830C>A (p.Pro277His)
c.779C>A (p.Pro260His)
n.95-5653C>A
 gnomAD v4
6g.160716755C>GCA366362445PLGc.50-5653C>G (n.50-5653C>G)
c.830C>G (p.Pro277Arg)
c.779C>G (p.Pro260Arg)
n.95-5653C>G
6g.160716755C>TCA366362446PLGc.50-5653C>T (n.50-5653C>T)
c.830C>T (p.Pro277Leu)
c.779C>T (p.Pro260Leu)
n.95-5653C>T
6g.160716756C>ACA453027388PLGc.50-5652C>A (n.50-5652C>A)
c.831C>A (p.Pro277=)
c.780C>A (p.Pro260=)
n.95-5652C>A
 gnomAD v4
6g.160716756C=CA1677195013PLGc.50-5652C= (n.50-5652C=)
c.831C= (p.Pro277=)
c.780C= (p.Pro260=)
n.95-5652C=
6g.160716756C>GCA453027389PLGc.50-5652C>G (n.50-5652C>G)
c.831C>G (p.Pro277=)
c.780C>G (p.Pro260=)
n.95-5652C>G
6g.160716756C>TCA453027390PLGc.50-5652C>T (n.50-5652C>T)
c.831C>T (p.Pro277=)
c.780C>T (p.Pro260=)
n.95-5652C>T
 dbSNP gnomAD v3 gnomAD v4
6g.160716757C>ACA366362447PLGc.50-5651C>A (n.50-5651C>A)
c.832C>A (p.Arg278Ser)
c.781C>A (p.Arg261Ser)
n.95-5651C>A
 gnomAD v4
6g.160716757C=CA1677195014PLGc.50-5651C= (n.50-5651C=)
c.832C= (p.Arg278=)
c.781C= (p.Arg261=)
n.95-5651C=
6g.160716757C>GCA366362448PLGc.50-5651C>G (n.50-5651C>G)
c.832C>G (p.Arg278Gly)
c.781C>G (p.Arg261Gly)
n.95-5651C>G
6g.160716757C>TCA4087566PLGc.50-5651C>T (n.50-5651C>T)
c.832C>T (p.Arg278Cys)
c.781C>T (p.Arg261Cys)
n.95-5651C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716758G>ACA4087567PLGc.50-5650G>A (n.50-5650G>A)
c.833G>A (p.Arg278His)
c.782G>A (p.Arg261His)
n.95-5650G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.160716758G>CCA366362449PLGc.50-5650G>C (n.50-5650G>C)
c.833G>C (p.Arg278Pro)
c.782G>C (p.Arg261Pro)
n.95-5650G>C
 dbSNP gnomAD v2 gnomAD v4
6g.160716758G=CA1677195015PLGc.50-5650G= (n.50-5650G=)
c.833G= (p.Arg278=)
c.782G= (p.Arg261=)
n.95-5650G=
6g.160716758G>TCA366362450PLGc.50-5650G>T (n.50-5650G>T)
c.833G>T (p.Arg278Leu)
c.782G>T (p.Arg261Leu)
n.95-5650G>T
6g.160716759C>ACA453027393PLGc.50-5649C>A (n.50-5649C>A)
c.834C>A (p.Arg278=)
c.783C>A (p.Arg261=)
n.95-5649C>A
 gnomAD v4 COSMIC
6g.160716759C>GCA453027395PLGc.50-5649C>G (n.50-5649C>G)
c.834C>G (p.Arg278=)
c.783C>G (p.Arg261=)
n.95-5649C>G
6g.160716759C>TCA453027397PLGc.50-5649C>T (n.50-5649C>T)
c.834C>T (p.Arg278=)
c.783C>T (p.Arg261=)
n.95-5649C>T
 gnomAD v4
6g.160716760T>ACA366362451PLGc.50-5648T>A (n.50-5648T>A)
c.835T>A (p.Cys279Ser)
c.784T>A (p.Cys262Ser)
n.95-5648T>A
6g.160716760T>CCA366362452PLGc.50-5648T>C (n.50-5648T>C)
c.835T>C (p.Cys279Arg)
c.784T>C (p.Cys262Arg)
n.95-5648T>C
 gnomAD v4
6g.160716760T>GCA366362453PLGc.50-5648T>G (n.50-5648T>G)
c.835T>G (p.Cys279Gly)
c.784T>G (p.Cys262Gly)
n.95-5648T>G
6g.160716761G>ACA366362456PLGc.50-5647G>A (n.50-5647G>A)
c.836G>A (p.Cys279Tyr)
c.785G>A (p.Cys262Tyr)
n.95-5647G>A
 gnomAD v4
6g.160716761G>CCA366362454PLGc.50-5647G>C (n.50-5647G>C)
c.836G>C (p.Cys279Ser)
c.785G>C (p.Cys262Ser)
n.95-5647G>C
6g.160716761G>TCA366362455PLGc.50-5647G>T (n.50-5647G>T)
c.836G>T (p.Cys279Phe)
c.785G>T (p.Cys262Phe)
n.95-5647G>T
 gnomAD v4
6g.160716762C>ACA366362457PLGc.50-5646C>A (n.50-5646C>A)
c.837C>A (p.Cys279Ter)
c.786C>A (p.Cys262Ter)
n.95-5646C>A
 gnomAD v4
6g.160716762C>GCA366362458PLGc.50-5646C>G (n.50-5646C>G)
c.837C>G (p.Cys279Trp)
c.786C>G (p.Cys262Trp)
n.95-5646C>G
6g.160716762C>TCA453027398PLGc.50-5646C>T (n.50-5646C>T)
c.837C>T (p.Cys279=)
c.786C>T (p.Cys262=)
n.95-5646C>T
 gnomAD v4
6g.160716763A>CCA366362459PLGc.50-5645A>C (n.50-5645A>C)
c.838A>C (p.Thr280Pro)
c.787A>C (p.Thr263Pro)
n.95-5645A>C
6g.160716763A>GCA366362460PLGc.50-5645A>G (n.50-5645A>G)
c.838A>G (p.Thr280Ala)
c.787A>G (p.Thr263Ala)
n.95-5645A>G
 gnomAD v4
6g.160716763A>TCA366362461PLGc.50-5645A>T (n.50-5645A>T)
c.838A>T (p.Thr280Ser)
c.787A>T (p.Thr263Ser)
n.95-5645A>T
 gnomAD v4
6g.160716763_160716764delinsAGCA1677195016PLGc.50-5645_50-5644delinsAG (n.50-5645_50-5644delinsAG)
c.838_838+1delinsAG
c.787_787+1delinsAG
n.95-5645_95-5644delinsAG
6g.160716764delCA4087568PLGc.50-5644del (n.50-5644del)
c.838+1del (n.838+1del)
c.787+1del (n.787+1del)
n.95-5644del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.160716764G>ACA366362462PLGc.50-5644G>A (n.50-5644G>A)
c.838+1G>A (n.838+1G>A)
c.787+1G>A (n.787+1G>A)
n.95-5644G>A
 gnomAD v4
6g.160716764G>CCA366362464PLGc.50-5644G>C (n.50-5644G>C)
c.838+1G>C (n.838+1G>C)
c.787+1G>C (n.787+1G>C)
n.95-5644G>C
6g.160716764G>TCA366362463PLGc.50-5644G>T (n.50-5644G>T)
c.838+1G>T (n.838+1G>T)
c.787+1G>T (n.787+1G>T)
n.95-5644G>T
6g.160716765T>ACA366362465PLGc.50-5643T>A (n.50-5643T>A)
c.838+2T>A (n.838+2T>A)
c.787+2T>A (n.787+2T>A)
n.95-5643T>A
 gnomAD v4
6g.160716765T>CCA366362466PLGc.50-5643T>C (n.50-5643T>C)
c.838+2T>C (n.838+2T>C)
c.787+2T>C (n.787+2T>C)
n.95-5643T>C
6g.160716765T>GCA366362467PLGc.50-5643T>G (n.50-5643T>G)
c.838+2T>G (n.838+2T>G)
c.787+2T>G (n.787+2T>G)
n.95-5643T>G
 gnomAD v4
6g.160716766G>CCA1677195018PLGc.50-5642G>C (n.50-5642G>C)
c.838+3G>C (n.838+3G>C)
c.787+3G>C (n.787+3G>C)
n.95-5642G>C
 dbSNP gnomAD v4
6g.160716766G=CA1677195017PLGc.50-5642G= (n.50-5642G=)
c.838+3G= (n.838+3G=)
c.787+3G= (n.787+3G=)
n.95-5642G=
6g.160716767A>GCA2681089672PLGc.50-5641A>G (n.50-5641A>G)
c.838+4A>G (n.838+4A>G)
c.787+4A>G (n.787+4A>G)
n.95-5641A>G
 gnomAD v4
6g.160716768G>ACA2681089673PLGc.50-5640G>A (n.50-5640G>A)
c.838+5G>A (n.838+5G>A)
c.787+5G>A (n.787+5G>A)
n.95-5640G>A
 gnomAD v4
6g.160716769T>ACA2681089674PLGc.50-5639T>A (n.50-5639T>A)
c.838+6T>A (n.838+6T>A)
c.787+6T>A (n.787+6T>A)
n.95-5639T>A
 gnomAD v4
6g.160716769T>CCA2681089675PLGc.50-5639T>C (n.50-5639T>C)
c.838+6T>C (n.838+6T>C)
c.787+6T>C (n.787+6T>C)
n.95-5639T>C
 gnomAD v4

Number of alleles fetched