Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113118598A=CA2120142132F7c.925A= (p.Arg309=)
c.991A= (p.Arg331=)
c.739A= (p.Arg247=)
n.1012A=
c.784A= (p.Arg262=)
c.1033A= (p.Arg345=)
c.847A= (p.Arg283=)
c.685A= (p.Arg229=)
c.994A= (p.Arg332=)
c.829A= (p.Arg277=)
c.1078A= (p.Arg360=)
c.892A= (p.Arg298=)
n.1009A=
13g.113118598A>CCA485423931F7c.925A>C (p.Arg309=)
c.991A>C (p.Arg331=)
c.739A>C (p.Arg247=)
n.1012A>C
c.784A>C (p.Arg262=)
c.1033A>C (p.Arg345=)
c.847A>C (p.Arg283=)
c.685A>C (p.Arg229=)
c.994A>C (p.Arg332=)
c.829A>C (p.Arg277=)
c.1078A>C (p.Arg360=)
c.892A>C (p.Arg298=)
n.1009A>C
13g.113118598A>GCA388786126F7c.925A>G (p.Arg309Gly)
c.991A>G (p.Arg331Gly)
c.739A>G (p.Arg247Gly)
n.1012A>G
c.784A>G (p.Arg262Gly)
c.1033A>G (p.Arg345Gly)
c.847A>G (p.Arg283Gly)
c.685A>G (p.Arg229Gly)
c.994A>G (p.Arg332Gly)
c.829A>G (p.Arg277Gly)
c.1078A>G (p.Arg360Gly)
c.892A>G (p.Arg298Gly)
n.1009A>G
13g.113118598A>TCA388786127F7c.925A>T (p.Arg309Trp)
c.991A>T (p.Arg331Trp)
c.739A>T (p.Arg247Trp)
n.1012A>T
c.784A>T (p.Arg262Trp)
c.1033A>T (p.Arg345Trp)
c.847A>T (p.Arg283Trp)
c.685A>T (p.Arg229Trp)
c.994A>T (p.Arg332Trp)
c.829A>T (p.Arg277Trp)
c.1078A>T (p.Arg360Trp)
c.892A>T (p.Arg298Trp)
n.1009A>T
13g.113118599G>ACA388786128F7c.926G>A (p.Arg309Lys)
c.992G>A (p.Arg331Lys)
c.740G>A (p.Arg247Lys)
n.1013G>A
c.785G>A (p.Arg262Lys)
c.1034G>A (p.Arg345Lys)
c.848G>A (p.Arg283Lys)
c.686G>A (p.Arg229Lys)
c.995G>A (p.Arg332Lys)
c.830G>A (p.Arg277Lys)
c.1079G>A (p.Arg360Lys)
c.893G>A (p.Arg298Lys)
n.1010G>A
 dbSNP gnomAD v2
13g.113118599G>CCA388786129F7c.926G>C (p.Arg309Thr)
c.992G>C (p.Arg331Thr)
c.740G>C (p.Arg247Thr)
n.1013G>C
c.785G>C (p.Arg262Thr)
c.1034G>C (p.Arg345Thr)
c.848G>C (p.Arg283Thr)
c.686G>C (p.Arg229Thr)
c.995G>C (p.Arg332Thr)
c.830G>C (p.Arg277Thr)
c.1079G>C (p.Arg360Thr)
c.893G>C (p.Arg298Thr)
n.1010G>C
13g.113118599G=CA2120142136F7c.926G= (p.Arg309=)
c.992G= (p.Arg331=)
c.740G= (p.Arg247=)
n.1013G=
c.785G= (p.Arg262=)
c.1034G= (p.Arg345=)
c.848G= (p.Arg283=)
c.686G= (p.Arg229=)
c.995G= (p.Arg332=)
c.830G= (p.Arg277=)
c.1079G= (p.Arg360=)
c.893G= (p.Arg298=)
n.1010G=
13g.113118599G>TCA388786130F7c.926G>T (p.Arg309Met)
c.992G>T (p.Arg331Met)
c.740G>T (p.Arg247Met)
n.1013G>T
c.785G>T (p.Arg262Met)
c.1034G>T (p.Arg345Met)
c.848G>T (p.Arg283Met)
c.686G>T (p.Arg229Met)
c.995G>T (p.Arg332Met)
c.830G>T (p.Arg277Met)
c.1079G>T (p.Arg360Met)
c.893G>T (p.Arg298Met)
n.1010G>T
13g.113118599_113118600dupCA612868317F7c.926_927dup (p.Thr310GlyfsTer?)
c.992_993dup (p.Thr332GlyfsTer?)
c.740_741dup (p.Thr248GlyfsTer?)
n.1013_1014dup
c.785_786dup (p.Thr263GlyfsTer?)
c.1034_1035dup (p.Thr346GlyfsTer?)
c.848_849dup (p.Thr284GlyfsTer?)
c.686_687dup (p.Thr230GlyfsTer?)
c.995_996dup (p.Thr333GlyfsTer?)
c.830_831dup (p.Thr278GlyfsTer?)
c.1079_1080dup (p.Thr361GlyfsTer?)
c.893_894dup (p.Thr299GlyfsTer?)
n.1010_1011dup
 dbSNP gnomAD v2 gnomAD v4
13g.113118600G>ACA485423932F7c.927G>A (p.Arg309=)
c.993G>A (p.Arg331=)
c.741G>A (p.Arg247=)
n.1014G>A
c.786G>A (p.Arg262=)
c.1035G>A (p.Arg345=)
c.849G>A (p.Arg283=)
c.687G>A (p.Arg229=)
c.996G>A (p.Arg332=)
c.831G>A (p.Arg277=)
c.1080G>A (p.Arg360=)
c.894G>A (p.Arg298=)
n.1011G>A
13g.113118600G>CCA388786131F7c.927G>C (p.Arg309Ser)
c.993G>C (p.Arg331Ser)
c.741G>C (p.Arg247Ser)
n.1014G>C
c.786G>C (p.Arg262Ser)
c.1035G>C (p.Arg345Ser)
c.849G>C (p.Arg283Ser)
c.687G>C (p.Arg229Ser)
c.996G>C (p.Arg332Ser)
c.831G>C (p.Arg277Ser)
c.1080G>C (p.Arg360Ser)
c.894G>C (p.Arg298Ser)
n.1011G>C
13g.113118600G>TCA388786132F7c.927G>T (p.Arg309Ser)
c.993G>T (p.Arg331Ser)
c.741G>T (p.Arg247Ser)
n.1014G>T
c.786G>T (p.Arg262Ser)
c.1035G>T (p.Arg345Ser)
c.849G>T (p.Arg283Ser)
c.687G>T (p.Arg229Ser)
c.996G>T (p.Arg332Ser)
c.831G>T (p.Arg277Ser)
c.1080G>T (p.Arg360Ser)
c.894G>T (p.Arg298Ser)
n.1011G>T
13g.113118601A>CCA388786133F7c.928A>C (p.Thr310Pro)
c.994A>C (p.Thr332Pro)
c.742A>C (p.Thr248Pro)
n.1015A>C
c.787A>C (p.Thr263Pro)
c.1036A>C (p.Thr346Pro)
c.850A>C (p.Thr284Pro)
c.688A>C (p.Thr230Pro)
c.997A>C (p.Thr333Pro)
c.832A>C (p.Thr278Pro)
c.1081A>C (p.Thr361Pro)
c.895A>C (p.Thr299Pro)
n.1012A>C
13g.113118601A>GCA388786134F7c.928A>G (p.Thr310Ala)
c.994A>G (p.Thr332Ala)
c.742A>G (p.Thr248Ala)
n.1015A>G
c.787A>G (p.Thr263Ala)
c.1036A>G (p.Thr346Ala)
c.850A>G (p.Thr284Ala)
c.688A>G (p.Thr230Ala)
c.997A>G (p.Thr333Ala)
c.832A>G (p.Thr278Ala)
c.1081A>G (p.Thr361Ala)
c.895A>G (p.Thr299Ala)
n.1012A>G
 gnomAD v4
13g.113118601A>TCA388786135F7c.928A>T (p.Thr310Ser)
c.994A>T (p.Thr332Ser)
c.742A>T (p.Thr248Ser)
n.1015A>T
c.787A>T (p.Thr263Ser)
c.1036A>T (p.Thr346Ser)
c.850A>T (p.Thr284Ser)
c.688A>T (p.Thr230Ser)
c.997A>T (p.Thr333Ser)
c.832A>T (p.Thr278Ser)
c.1081A>T (p.Thr361Ser)
c.895A>T (p.Thr299Ser)
n.1012A>T
 COSMIC COSMIC
13g.113118602C>ACA388786136F7c.929C>A (p.Thr310Lys)
c.995C>A (p.Thr332Lys)
c.743C>A (p.Thr248Lys)
n.1016C>A
c.788C>A (p.Thr263Lys)
c.1037C>A (p.Thr346Lys)
c.851C>A (p.Thr284Lys)
c.689C>A (p.Thr230Lys)
c.998C>A (p.Thr333Lys)
c.833C>A (p.Thr278Lys)
c.1082C>A (p.Thr361Lys)
c.896C>A (p.Thr299Lys)
n.1013C>A
13g.113118602C=CA2120142140F7c.929C= (p.Thr310=)
c.995C= (p.Thr332=)
c.743C= (p.Thr248=)
n.1016C=
c.788C= (p.Thr263=)
c.1037C= (p.Thr346=)
c.851C= (p.Thr284=)
c.689C= (p.Thr230=)
c.998C= (p.Thr333=)
c.833C= (p.Thr278=)
c.1082C= (p.Thr361=)
c.896C= (p.Thr299=)
n.1013C=
13g.113118602C>GCA388786137F7c.929C>G (p.Thr310Arg)
c.995C>G (p.Thr332Arg)
c.743C>G (p.Thr248Arg)
n.1016C>G
c.788C>G (p.Thr263Arg)
c.1037C>G (p.Thr346Arg)
c.851C>G (p.Thr284Arg)
c.689C>G (p.Thr230Arg)
c.998C>G (p.Thr333Arg)
c.833C>G (p.Thr278Arg)
c.1082C>G (p.Thr361Arg)
c.896C>G (p.Thr299Arg)
n.1013C>G
13g.113118602C>TCA7060188F7c.929C>T (p.Thr310Met)
c.995C>T (p.Thr332Met)
c.743C>T (p.Thr248Met)
n.1016C>T
c.788C>T (p.Thr263Met)
c.1037C>T (p.Thr346Met)
c.851C>T (p.Thr284Met)
c.689C>T (p.Thr230Met)
c.998C>T (p.Thr333Met)
c.833C>T (p.Thr278Met)
c.1082C>T (p.Thr361Met)
c.896C>T (p.Thr299Met)
n.1013C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118603G>ACA7060189F7c.930G>A (p.Thr310=)
c.996G>A (p.Thr332=)
c.744G>A (p.Thr248=)
n.1017G>A
c.789G>A (p.Thr263=)
c.1038G>A (p.Thr346=)
c.852G>A (p.Thr284=)
c.690G>A (p.Thr230=)
c.999G>A (p.Thr333=)
c.834G>A (p.Thr278=)
c.1083G>A (p.Thr361=)
c.897G>A (p.Thr299=)
n.1014G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118603G>CCA485423933F7c.930G>C (p.Thr310=)
c.996G>C (p.Thr332=)
c.744G>C (p.Thr248=)
n.1017G>C
c.789G>C (p.Thr263=)
c.1038G>C (p.Thr346=)
c.852G>C (p.Thr284=)
c.690G>C (p.Thr230=)
c.999G>C (p.Thr333=)
c.834G>C (p.Thr278=)
c.1083G>C (p.Thr361=)
c.897G>C (p.Thr299=)
n.1014G>C
 dbSNP
13g.113118603G=CA2120142153F7c.930G= (p.Thr310=)
c.996G= (p.Thr332=)
c.744G= (p.Thr248=)
n.1017G=
c.789G= (p.Thr263=)
c.1038G= (p.Thr346=)
c.852G= (p.Thr284=)
c.690G= (p.Thr230=)
c.999G= (p.Thr333=)
c.834G= (p.Thr278=)
c.1083G= (p.Thr361=)
c.897G= (p.Thr299=)
n.1014G=
13g.113118603G>TCA256461637F7c.930G>T (p.Thr310=)
c.996G>T (p.Thr332=)
c.744G>T (p.Thr248=)
n.1017G>T
c.789G>T (p.Thr263=)
c.1038G>T (p.Thr346=)
c.852G>T (p.Thr284=)
c.690G>T (p.Thr230=)
c.999G>T (p.Thr333=)
c.834G>T (p.Thr278=)
c.1083G>T (p.Thr361=)
c.897G>T (p.Thr299=)
n.1014G>T
 dbSNP
13g.113118604C>ACA388786138F7c.931C>A (p.Leu311Met)
c.997C>A (p.Leu333Met)
c.745C>A (p.Leu249Met)
n.1018C>A
c.790C>A (p.Leu264Met)
c.1039C>A (p.Leu347Met)
c.853C>A (p.Leu285Met)
c.691C>A (p.Leu231Met)
c.1000C>A (p.Leu334Met)
c.835C>A (p.Leu279Met)
c.1084C>A (p.Leu362Met)
c.898C>A (p.Leu300Met)
n.1015C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.113118604C=CA2120142157F7c.931C= (p.Leu311=)
c.997C= (p.Leu333=)
c.745C= (p.Leu249=)
n.1018C=
c.790C= (p.Leu264=)
c.1039C= (p.Leu347=)
c.853C= (p.Leu285=)
c.691C= (p.Leu231=)
c.1000C= (p.Leu334=)
c.835C= (p.Leu279=)
c.1084C= (p.Leu362=)
c.898C= (p.Leu300=)
n.1015C=
13g.113118604C>GCA388786139F7c.931C>G (p.Leu311Val)
c.997C>G (p.Leu333Val)
c.745C>G (p.Leu249Val)
n.1018C>G
c.790C>G (p.Leu264Val)
c.1039C>G (p.Leu347Val)
c.853C>G (p.Leu285Val)
c.691C>G (p.Leu231Val)
c.1000C>G (p.Leu334Val)
c.835C>G (p.Leu279Val)
c.1084C>G (p.Leu362Val)
c.898C>G (p.Leu300Val)
n.1015C>G
13g.113118604C>TCA485423934F7c.931C>T (p.Leu311=)
c.997C>T (p.Leu333=)
c.745C>T (p.Leu249=)
n.1018C>T
c.790C>T (p.Leu264=)
c.1039C>T (p.Leu347=)
c.853C>T (p.Leu285=)
c.691C>T (p.Leu231=)
c.1000C>T (p.Leu334=)
c.835C>T (p.Leu279=)
c.1084C>T (p.Leu362=)
c.898C>T (p.Leu300=)
n.1015C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118605T>ACA388786140F7c.932T>A (p.Leu311Gln)
c.998T>A (p.Leu333Gln)
c.746T>A (p.Leu249Gln)
n.1019T>A
c.791T>A (p.Leu264Gln)
c.1040T>A (p.Leu347Gln)
c.854T>A (p.Leu285Gln)
c.692T>A (p.Leu231Gln)
c.1001T>A (p.Leu334Gln)
c.836T>A (p.Leu279Gln)
c.1085T>A (p.Leu362Gln)
c.899T>A (p.Leu300Gln)
n.1016T>A
 COSMIC
13g.113118605T>CCA388786141F7c.932T>C (p.Leu311Pro)
c.998T>C (p.Leu333Pro)
c.746T>C (p.Leu249Pro)
n.1019T>C
c.791T>C (p.Leu264Pro)
c.1040T>C (p.Leu347Pro)
c.854T>C (p.Leu285Pro)
c.692T>C (p.Leu231Pro)
c.1001T>C (p.Leu334Pro)
c.836T>C (p.Leu279Pro)
c.1085T>C (p.Leu362Pro)
c.899T>C (p.Leu300Pro)
n.1016T>C
 gnomAD v4
13g.113118605T>GCA388786142F7c.932T>G (p.Leu311Arg)
c.998T>G (p.Leu333Arg)
c.746T>G (p.Leu249Arg)
n.1019T>G
c.791T>G (p.Leu264Arg)
c.1040T>G (p.Leu347Arg)
c.854T>G (p.Leu285Arg)
c.692T>G (p.Leu231Arg)
c.1001T>G (p.Leu334Arg)
c.836T>G (p.Leu279Arg)
c.1085T>G (p.Leu362Arg)
c.899T>G (p.Leu300Arg)
n.1016T>G
13g.113118606G>ACA485423935F7c.933G>A (p.Leu311=)
c.999G>A (p.Leu333=)
c.747G>A (p.Leu249=)
n.1020G>A
c.792G>A (p.Leu264=)
c.1041G>A (p.Leu347=)
c.855G>A (p.Leu285=)
c.693G>A (p.Leu231=)
c.1002G>A (p.Leu334=)
c.837G>A (p.Leu279=)
c.1086G>A (p.Leu362=)
c.900G>A (p.Leu300=)
n.1017G>A
13g.113118606G>CCA485423936F7c.933G>C (p.Leu311=)
c.999G>C (p.Leu333=)
c.747G>C (p.Leu249=)
n.1020G>C
c.792G>C (p.Leu264=)
c.1041G>C (p.Leu347=)
c.855G>C (p.Leu285=)
c.693G>C (p.Leu231=)
c.1002G>C (p.Leu334=)
c.837G>C (p.Leu279=)
c.1086G>C (p.Leu362=)
c.900G>C (p.Leu300=)
n.1017G>C
13g.113118606G>TCA485423937F7c.933G>T (p.Leu311=)
c.999G>T (p.Leu333=)
c.747G>T (p.Leu249=)
n.1020G>T
c.792G>T (p.Leu264=)
c.1041G>T (p.Leu347=)
c.855G>T (p.Leu285=)
c.693G>T (p.Leu231=)
c.1002G>T (p.Leu334=)
c.837G>T (p.Leu279=)
c.1086G>T (p.Leu362=)
c.900G>T (p.Leu300=)
n.1017G>T
13g.113118607G>ACA388786143F7c.934G>A (p.Ala312Thr)
c.1000G>A (p.Ala334Thr)
c.748G>A (p.Ala250Thr)
n.1021G>A
c.793G>A (p.Ala265Thr)
c.1042G>A (p.Ala348Thr)
c.856G>A (p.Ala286Thr)
c.694G>A (p.Ala232Thr)
c.1003G>A (p.Ala335Thr)
c.838G>A (p.Ala280Thr)
c.1087G>A (p.Ala363Thr)
c.901G>A (p.Ala301Thr)
n.1018G>A
13g.113118607G>CCA388786144F7c.934G>C (p.Ala312Pro)
c.1000G>C (p.Ala334Pro)
c.748G>C (p.Ala250Pro)
n.1021G>C
c.793G>C (p.Ala265Pro)
c.1042G>C (p.Ala348Pro)
c.856G>C (p.Ala286Pro)
c.694G>C (p.Ala232Pro)
c.1003G>C (p.Ala335Pro)
c.838G>C (p.Ala280Pro)
c.1087G>C (p.Ala363Pro)
c.901G>C (p.Ala301Pro)
n.1018G>C
 dbSNP
13g.113118607G=CA2120142158F7c.934G= (p.Ala312=)
c.1000G= (p.Ala334=)
c.748G= (p.Ala250=)
n.1021G=
c.793G= (p.Ala265=)
c.1042G= (p.Ala348=)
c.856G= (p.Ala286=)
c.694G= (p.Ala232=)
c.1003G= (p.Ala335=)
c.838G= (p.Ala280=)
c.1087G= (p.Ala363=)
c.901G= (p.Ala301=)
n.1018G=
13g.113118607G>TCA388786145F7c.934G>T (p.Ala312Ser)
c.1000G>T (p.Ala334Ser)
c.748G>T (p.Ala250Ser)
n.1021G>T
c.793G>T (p.Ala265Ser)
c.1042G>T (p.Ala348Ser)
c.856G>T (p.Ala286Ser)
c.694G>T (p.Ala232Ser)
c.1003G>T (p.Ala335Ser)
c.838G>T (p.Ala280Ser)
c.1087G>T (p.Ala363Ser)
c.901G>T (p.Ala301Ser)
n.1018G>T
 gnomAD v4
13g.113118608C>ACA388786146F7c.935C>A (p.Ala312Asp)
c.1001C>A (p.Ala334Asp)
c.749C>A (p.Ala250Asp)
n.1022C>A
c.794C>A (p.Ala265Asp)
c.1043C>A (p.Ala348Asp)
c.857C>A (p.Ala286Asp)
c.695C>A (p.Ala232Asp)
c.1004C>A (p.Ala335Asp)
c.839C>A (p.Ala280Asp)
c.1088C>A (p.Ala363Asp)
c.902C>A (p.Ala301Asp)
n.1019C>A
13g.113118608C>GCA388786147F7c.935C>G (p.Ala312Gly)
c.1001C>G (p.Ala334Gly)
c.749C>G (p.Ala250Gly)
n.1022C>G
c.794C>G (p.Ala265Gly)
c.1043C>G (p.Ala348Gly)
c.857C>G (p.Ala286Gly)
c.695C>G (p.Ala232Gly)
c.1004C>G (p.Ala335Gly)
c.839C>G (p.Ala280Gly)
c.1088C>G (p.Ala363Gly)
c.902C>G (p.Ala301Gly)
n.1019C>G
13g.113118608C>TCA388786148F7c.935C>T (p.Ala312Val)
c.1001C>T (p.Ala334Val)
c.749C>T (p.Ala250Val)
n.1022C>T
c.794C>T (p.Ala265Val)
c.1043C>T (p.Ala348Val)
c.857C>T (p.Ala286Val)
c.695C>T (p.Ala232Val)
c.1004C>T (p.Ala335Val)
c.839C>T (p.Ala280Val)
c.1088C>T (p.Ala363Val)
c.902C>T (p.Ala301Val)
n.1019C>T
13g.113118609C>ACA485423938F7c.936C>A (p.Ala312=)
c.1002C>A (p.Ala334=)
c.750C>A (p.Ala250=)
n.1023C>A
c.795C>A (p.Ala265=)
c.1044C>A (p.Ala348=)
c.858C>A (p.Ala286=)
c.696C>A (p.Ala232=)
c.1005C>A (p.Ala335=)
c.840C>A (p.Ala280=)
c.1089C>A (p.Ala363=)
c.903C>A (p.Ala301=)
n.1020C>A
13g.113118609C>GCA485423939F7c.936C>G (p.Ala312=)
c.1002C>G (p.Ala334=)
c.750C>G (p.Ala250=)
n.1023C>G
c.795C>G (p.Ala265=)
c.1044C>G (p.Ala348=)
c.858C>G (p.Ala286=)
c.696C>G (p.Ala232=)
c.1005C>G (p.Ala335=)
c.840C>G (p.Ala280=)
c.1089C>G (p.Ala363=)
c.903C>G (p.Ala301=)
n.1020C>G
13g.113118609C>TCA485423940F7c.936C>T (p.Ala312=)
c.1002C>T (p.Ala334=)
c.750C>T (p.Ala250=)
n.1023C>T
c.795C>T (p.Ala265=)
c.1044C>T (p.Ala348=)
c.858C>T (p.Ala286=)
c.696C>T (p.Ala232=)
c.1005C>T (p.Ala335=)
c.840C>T (p.Ala280=)
c.1089C>T (p.Ala363=)
c.903C>T (p.Ala301=)
n.1020C>T
13g.113118610T>ACA388786149F7c.937T>A (p.Phe313Ile)
c.1003T>A (p.Phe335Ile)
c.751T>A (p.Phe251Ile)
n.1024T>A
c.796T>A (p.Phe266Ile)
c.1045T>A (p.Phe349Ile)
c.859T>A (p.Phe287Ile)
c.697T>A (p.Phe233Ile)
c.1006T>A (p.Phe336Ile)
c.841T>A (p.Phe281Ile)
c.1090T>A (p.Phe364Ile)
c.904T>A (p.Phe302Ile)
n.1021T>A
13g.113118610T>CCA7060190F7c.937T>C (p.Phe313Leu)
c.1003T>C (p.Phe335Leu)
c.751T>C (p.Phe251Leu)
n.1024T>C
c.796T>C (p.Phe266Leu)
c.1045T>C (p.Phe349Leu)
c.859T>C (p.Phe287Leu)
c.697T>C (p.Phe233Leu)
c.1006T>C (p.Phe336Leu)
c.841T>C (p.Phe281Leu)
c.1090T>C (p.Phe364Leu)
c.904T>C (p.Phe302Leu)
n.1021T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118610T>GCA388786150F7c.937T>G (p.Phe313Val)
c.1003T>G (p.Phe335Val)
c.751T>G (p.Phe251Val)
n.1024T>G
c.796T>G (p.Phe266Val)
c.1045T>G (p.Phe349Val)
c.859T>G (p.Phe287Val)
c.697T>G (p.Phe233Val)
c.1006T>G (p.Phe336Val)
c.841T>G (p.Phe281Val)
c.1090T>G (p.Phe364Val)
c.904T>G (p.Phe302Val)
n.1021T>G
13g.113118610T=CA2120142163F7c.937T= (p.Phe313=)
c.1003T= (p.Phe335=)
c.751T= (p.Phe251=)
n.1024T=
c.796T= (p.Phe266=)
c.1045T= (p.Phe349=)
c.859T= (p.Phe287=)
c.697T= (p.Phe233=)
c.1006T= (p.Phe336=)
c.841T= (p.Phe281=)
c.1090T= (p.Phe364=)
c.904T= (p.Phe302=)
n.1021T=
13g.113118611T>ACA388786151F7c.938T>A (p.Phe313Tyr)
c.1004T>A (p.Phe335Tyr)
c.752T>A (p.Phe251Tyr)
n.1025T>A
c.797T>A (p.Phe266Tyr)
c.1046T>A (p.Phe349Tyr)
c.860T>A (p.Phe287Tyr)
c.698T>A (p.Phe233Tyr)
c.1007T>A (p.Phe336Tyr)
c.842T>A (p.Phe281Tyr)
c.1091T>A (p.Phe364Tyr)
c.905T>A (p.Phe302Tyr)
n.1022T>A
13g.113118611T>CCA388786153F7c.938T>C (p.Phe313Ser)
c.1004T>C (p.Phe335Ser)
c.752T>C (p.Phe251Ser)
n.1025T>C
c.797T>C (p.Phe266Ser)
c.1046T>C (p.Phe349Ser)
c.860T>C (p.Phe287Ser)
c.698T>C (p.Phe233Ser)
c.1007T>C (p.Phe336Ser)
c.842T>C (p.Phe281Ser)
c.1091T>C (p.Phe364Ser)
c.905T>C (p.Phe302Ser)
n.1022T>C
13g.113118611T>GCA388786152F7c.938T>G (p.Phe313Cys)
c.1004T>G (p.Phe335Cys)
c.752T>G (p.Phe251Cys)
n.1025T>G
c.797T>G (p.Phe266Cys)
c.1046T>G (p.Phe349Cys)
c.860T>G (p.Phe287Cys)
c.698T>G (p.Phe233Cys)
c.1007T>G (p.Phe336Cys)
c.842T>G (p.Phe281Cys)
c.1091T>G (p.Phe364Cys)
c.905T>G (p.Phe302Cys)
n.1022T>G
13g.113118612C>ACA388786154F7c.939C>A (p.Phe313Leu)
c.1005C>A (p.Phe335Leu)
c.753C>A (p.Phe251Leu)
n.1026C>A
c.798C>A (p.Phe266Leu)
c.1047C>A (p.Phe349Leu)
c.861C>A (p.Phe287Leu)
c.699C>A (p.Phe233Leu)
c.1008C>A (p.Phe336Leu)
c.843C>A (p.Phe281Leu)
c.1092C>A (p.Phe364Leu)
c.906C>A (p.Phe302Leu)
n.1023C>A
13g.113118612C=CA2120142173F7c.939C= (p.Phe313=)
c.1005C= (p.Phe335=)
c.753C= (p.Phe251=)
n.1026C=
c.798C= (p.Phe266=)
c.1047C= (p.Phe349=)
c.861C= (p.Phe287=)
c.699C= (p.Phe233=)
c.1008C= (p.Phe336=)
c.843C= (p.Phe281=)
c.1092C= (p.Phe364=)
c.906C= (p.Phe302=)
n.1023C=
13g.113118612C>GCA388786155F7c.939C>G (p.Phe313Leu)
c.1005C>G (p.Phe335Leu)
c.753C>G (p.Phe251Leu)
n.1026C>G
c.798C>G (p.Phe266Leu)
c.1047C>G (p.Phe349Leu)
c.861C>G (p.Phe287Leu)
c.699C>G (p.Phe233Leu)
c.1008C>G (p.Phe336Leu)
c.843C>G (p.Phe281Leu)
c.1092C>G (p.Phe364Leu)
c.906C>G (p.Phe302Leu)
n.1023C>G
13g.113118612C>TCA7060191F7c.939C>T (p.Phe313=)
c.1005C>T (p.Phe335=)
c.753C>T (p.Phe251=)
n.1026C>T
c.798C>T (p.Phe266=)
c.1047C>T (p.Phe349=)
c.861C>T (p.Phe287=)
c.699C>T (p.Phe233=)
c.1008C>T (p.Phe336=)
c.843C>T (p.Phe281=)
c.1092C>T (p.Phe364=)
c.906C>T (p.Phe302=)
n.1023C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118613delCA2695218971F7c.940del (p.Val314CysfsTer30)
c.1006del (p.Val336CysfsTer30)
c.754del (p.Val252CysfsTer30)
n.1027del
c.799del (p.Val267CysfsTer30)
c.1048del (p.Val350CysfsTer30)
c.862del (p.Val288CysfsTer30)
c.700del (p.Val234CysfsTer30)
c.1009del (p.Val337CysfsTer30)
c.844del (p.Val282CysfsTer30)
c.1093del (p.Val365CysfsTer30)
c.907del (p.Val303CysfsTer30)
n.1024del
13g.113118613G>ACA7060192F7c.940G>A (p.Val314Met)
c.1006G>A (p.Val336Met)
c.754G>A (p.Val252Met)
n.1027G>A
c.799G>A (p.Val267Met)
c.1048G>A (p.Val350Met)
c.862G>A (p.Val288Met)
c.700G>A (p.Val234Met)
c.1009G>A (p.Val337Met)
c.844G>A (p.Val282Met)
c.1093G>A (p.Val365Met)
c.907G>A (p.Val303Met)
n.1024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118613G>CCA388786156F7c.940G>C (p.Val314Leu)
c.1006G>C (p.Val336Leu)
c.754G>C (p.Val252Leu)
n.1027G>C
c.799G>C (p.Val267Leu)
c.1048G>C (p.Val350Leu)
c.862G>C (p.Val288Leu)
c.700G>C (p.Val234Leu)
c.1009G>C (p.Val337Leu)
c.844G>C (p.Val282Leu)
c.1093G>C (p.Val365Leu)
c.907G>C (p.Val303Leu)
n.1024G>C
 dbSNP gnomAD v3 gnomAD v4
13g.113118613G=CA2120142183F7c.940G= (p.Val314=)
c.1006G= (p.Val336=)
c.754G= (p.Val252=)
n.1027G=
c.799G= (p.Val267=)
c.1048G= (p.Val350=)
c.862G= (p.Val288=)
c.700G= (p.Val234=)
c.1009G= (p.Val337=)
c.844G= (p.Val282=)
c.1093G= (p.Val365=)
c.907G= (p.Val303=)
n.1024G=
13g.113118613G>TCA388786157F7c.940G>T (p.Val314Leu)
c.1006G>T (p.Val336Leu)
c.754G>T (p.Val252Leu)
n.1027G>T
c.799G>T (p.Val267Leu)
c.1048G>T (p.Val350Leu)
c.862G>T (p.Val288Leu)
c.700G>T (p.Val234Leu)
c.1009G>T (p.Val337Leu)
c.844G>T (p.Val282Leu)
c.1093G>T (p.Val365Leu)
c.907G>T (p.Val303Leu)
n.1024G>T
 gnomAD v4
13g.113118614T>ACA388786158F7c.941T>A (p.Val314Glu)
c.1007T>A (p.Val336Glu)
c.755T>A (p.Val252Glu)
n.1028T>A
c.800T>A (p.Val267Glu)
c.1049T>A (p.Val350Glu)
c.863T>A (p.Val288Glu)
c.701T>A (p.Val234Glu)
c.1010T>A (p.Val337Glu)
c.845T>A (p.Val282Glu)
c.1094T>A (p.Val365Glu)
c.908T>A (p.Val303Glu)
n.1025T>A
13g.113118614T>CCA388786159F7c.941T>C (p.Val314Ala)
c.1007T>C (p.Val336Ala)
c.755T>C (p.Val252Ala)
n.1028T>C
c.800T>C (p.Val267Ala)
c.1049T>C (p.Val350Ala)
c.863T>C (p.Val288Ala)
c.701T>C (p.Val234Ala)
c.1010T>C (p.Val337Ala)
c.845T>C (p.Val282Ala)
c.1094T>C (p.Val365Ala)
c.908T>C (p.Val303Ala)
n.1025T>C
13g.113118614T>GCA388786160F7c.941T>G (p.Val314Gly)
c.1007T>G (p.Val336Gly)
c.755T>G (p.Val252Gly)
n.1028T>G
c.800T>G (p.Val267Gly)
c.1049T>G (p.Val350Gly)
c.863T>G (p.Val288Gly)
c.701T>G (p.Val234Gly)
c.1010T>G (p.Val337Gly)
c.845T>G (p.Val282Gly)
c.1094T>G (p.Val365Gly)
c.908T>G (p.Val303Gly)
n.1025T>G
13g.113118615G>ACA485423943F7c.942G>A (p.Val314=)
c.1008G>A (p.Val336=)
c.756G>A (p.Val252=)
n.1029G>A
c.801G>A (p.Val267=)
c.1050G>A (p.Val350=)
c.864G>A (p.Val288=)
c.702G>A (p.Val234=)
c.1011G>A (p.Val337=)
c.846G>A (p.Val282=)
c.1095G>A (p.Val365=)
c.909G>A (p.Val303=)
n.1026G>A
 gnomAD v4
13g.113118615G>CCA485423942F7c.942G>C (p.Val314=)
c.1008G>C (p.Val336=)
c.756G>C (p.Val252=)
n.1029G>C
c.801G>C (p.Val267=)
c.1050G>C (p.Val350=)
c.864G>C (p.Val288=)
c.702G>C (p.Val234=)
c.1011G>C (p.Val337=)
c.846G>C (p.Val282=)
c.1095G>C (p.Val365=)
c.909G>C (p.Val303=)
n.1026G>C
13g.113118615G>TCA485423941F7c.942G>T (p.Val314=)
c.1008G>T (p.Val336=)
c.756G>T (p.Val252=)
n.1029G>T
c.801G>T (p.Val267=)
c.1050G>T (p.Val350=)
c.864G>T (p.Val288=)
c.702G>T (p.Val234=)
c.1011G>T (p.Val337=)
c.846G>T (p.Val282=)
c.1095G>T (p.Val365=)
c.909G>T (p.Val303=)
n.1026G>T
13g.113118616C>ACA388786161F7c.943C>A (p.Arg315Ser)
c.1009C>A (p.Arg337Ser)
c.757C>A (p.Arg253Ser)
n.1030C>A
c.802C>A (p.Arg268Ser)
c.1051C>A (p.Arg351Ser)
c.865C>A (p.Arg289Ser)
c.703C>A (p.Arg235Ser)
c.1012C>A (p.Arg338Ser)
c.847C>A (p.Arg283Ser)
c.1096C>A (p.Arg366Ser)
c.910C>A (p.Arg304Ser)
n.1027C>A
13g.113118616C=CA2120142191F7c.943C= (p.Arg315=)
c.1009C= (p.Arg337=)
c.757C= (p.Arg253=)
n.1030C=
c.802C= (p.Arg268=)
c.1051C= (p.Arg351=)
c.865C= (p.Arg289=)
c.703C= (p.Arg235=)
c.1012C= (p.Arg338=)
c.847C= (p.Arg283=)
c.1096C= (p.Arg366=)
c.910C= (p.Arg304=)
n.1027C=
13g.113118616C>GCA388786162F7c.943C>G (p.Arg315Gly)
c.1009C>G (p.Arg337Gly)
c.757C>G (p.Arg253Gly)
n.1030C>G
c.802C>G (p.Arg268Gly)
c.1051C>G (p.Arg351Gly)
c.865C>G (p.Arg289Gly)
c.703C>G (p.Arg235Gly)
c.1012C>G (p.Arg338Gly)
c.847C>G (p.Arg283Gly)
c.1096C>G (p.Arg366Gly)
c.910C>G (p.Arg304Gly)
n.1027C>G
13g.113118616C>TCA7060193F7c.943C>T (p.Arg315Cys)
c.1009C>T (p.Arg337Cys)
c.757C>T (p.Arg253Cys)
n.1030C>T
c.802C>T (p.Arg268Cys)
c.1051C>T (p.Arg351Cys)
c.865C>T (p.Arg289Cys)
c.703C>T (p.Arg235Cys)
c.1012C>T (p.Arg338Cys)
c.847C>T (p.Arg283Cys)
c.1096C>T (p.Arg366Cys)
c.910C>T (p.Arg304Cys)
n.1027C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118617G>ACA7060194F7c.944G>A (p.Arg315His)
c.1010G>A (p.Arg337His)
c.758G>A (p.Arg253His)
n.1031G>A
c.803G>A (p.Arg268His)
c.1052G>A (p.Arg351His)
c.866G>A (p.Arg289His)
c.704G>A (p.Arg235His)
c.1013G>A (p.Arg338His)
c.848G>A (p.Arg283His)
c.1097G>A (p.Arg366His)
c.911G>A (p.Arg304His)
n.1028G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.113118617G>CCA388786163F7c.944G>C (p.Arg315Pro)
c.1010G>C (p.Arg337Pro)
c.758G>C (p.Arg253Pro)
n.1031G>C
c.803G>C (p.Arg268Pro)
c.1052G>C (p.Arg351Pro)
c.866G>C (p.Arg289Pro)
c.704G>C (p.Arg235Pro)
c.1013G>C (p.Arg338Pro)
c.848G>C (p.Arg283Pro)
c.1097G>C (p.Arg366Pro)
c.911G>C (p.Arg304Pro)
n.1028G>C
13g.113118617G=CA2120142196F7c.944G= (p.Arg315=)
c.1010G= (p.Arg337=)
c.758G= (p.Arg253=)
n.1031G=
c.803G= (p.Arg268=)
c.1052G= (p.Arg351=)
c.866G= (p.Arg289=)
c.704G= (p.Arg235=)
c.1013G= (p.Arg338=)
c.848G= (p.Arg283=)
c.1097G= (p.Arg366=)
c.911G= (p.Arg304=)
n.1028G=
13g.113118617G>TCA388786164F7c.944G>T (p.Arg315Leu)
c.1010G>T (p.Arg337Leu)
c.758G>T (p.Arg253Leu)
n.1031G>T
c.803G>T (p.Arg268Leu)
c.1052G>T (p.Arg351Leu)
c.866G>T (p.Arg289Leu)
c.704G>T (p.Arg235Leu)
c.1013G>T (p.Arg338Leu)
c.848G>T (p.Arg283Leu)
c.1097G>T (p.Arg366Leu)
c.911G>T (p.Arg304Leu)
n.1028G>T
 dbSNP gnomAD v4
13g.113118618C>ACA485423944F7c.945C>A (p.Arg315=)
c.1011C>A (p.Arg337=)
c.759C>A (p.Arg253=)
n.1032C>A
c.804C>A (p.Arg268=)
c.1053C>A (p.Arg351=)
c.867C>A (p.Arg289=)
c.705C>A (p.Arg235=)
c.1014C>A (p.Arg338=)
c.849C>A (p.Arg283=)
c.1098C>A (p.Arg366=)
c.912C>A (p.Arg304=)
n.1029C>A
13g.113118618C=CA2120142200F7c.945C= (p.Arg315=)
c.1011C= (p.Arg337=)
c.759C= (p.Arg253=)
n.1032C=
c.804C= (p.Arg268=)
c.1053C= (p.Arg351=)
c.867C= (p.Arg289=)
c.705C= (p.Arg235=)
c.1014C= (p.Arg338=)
c.849C= (p.Arg283=)
c.1098C= (p.Arg366=)
c.912C= (p.Arg304=)
n.1029C=
13g.113118618C>GCA485423945F7c.945C>G (p.Arg315=)
c.1011C>G (p.Arg337=)
c.759C>G (p.Arg253=)
n.1032C>G
c.804C>G (p.Arg268=)
c.1053C>G (p.Arg351=)
c.867C>G (p.Arg289=)
c.705C>G (p.Arg235=)
c.1014C>G (p.Arg338=)
c.849C>G (p.Arg283=)
c.1098C>G (p.Arg366=)
c.912C>G (p.Arg304=)
n.1029C>G
13g.113118618C>TCA256461660F7c.945C>T (p.Arg315=)
c.1011C>T (p.Arg337=)
c.759C>T (p.Arg253=)
n.1032C>T
c.804C>T (p.Arg268=)
c.1053C>T (p.Arg351=)
c.867C>T (p.Arg289=)
c.705C>T (p.Arg235=)
c.1014C>T (p.Arg338=)
c.849C>T (p.Arg283=)
c.1098C>T (p.Arg366=)
c.912C>T (p.Arg304=)
n.1029C>T
 dbSNP gnomAD v4
13g.113118619T>ACA388786167F7c.946T>A (p.Phe316Ile)
c.1012T>A (p.Phe338Ile)
c.760T>A (p.Phe254Ile)
n.1033T>A
c.805T>A (p.Phe269Ile)
c.1054T>A (p.Phe352Ile)
c.868T>A (p.Phe290Ile)
c.706T>A (p.Phe236Ile)
c.1015T>A (p.Phe339Ile)
c.850T>A (p.Phe284Ile)
c.1099T>A (p.Phe367Ile)
c.913T>A (p.Phe305Ile)
n.1030T>A
13g.113118619T>CCA388786165F7c.946T>C (p.Phe316Leu)
c.1012T>C (p.Phe338Leu)
c.760T>C (p.Phe254Leu)
n.1033T>C
c.805T>C (p.Phe269Leu)
c.1054T>C (p.Phe352Leu)
c.868T>C (p.Phe290Leu)
c.706T>C (p.Phe236Leu)
c.1015T>C (p.Phe339Leu)
c.850T>C (p.Phe284Leu)
c.1099T>C (p.Phe367Leu)
c.913T>C (p.Phe305Leu)
n.1030T>C
 dbSNP gnomAD v4
13g.113118619T>GCA388786166F7c.946T>G (p.Phe316Val)
c.1012T>G (p.Phe338Val)
c.760T>G (p.Phe254Val)
n.1033T>G
c.805T>G (p.Phe269Val)
c.1054T>G (p.Phe352Val)
c.868T>G (p.Phe290Val)
c.706T>G (p.Phe236Val)
c.1015T>G (p.Phe339Val)
c.850T>G (p.Phe284Val)
c.1099T>G (p.Phe367Val)
c.913T>G (p.Phe305Val)
n.1030T>G
13g.113118619T=CA2120142205F7c.946T= (p.Phe316=)
c.1012T= (p.Phe338=)
c.760T= (p.Phe254=)
n.1033T=
c.805T= (p.Phe269=)
c.1054T= (p.Phe352=)
c.868T= (p.Phe290=)
c.706T= (p.Phe236=)
c.1015T= (p.Phe339=)
c.850T= (p.Phe284=)
c.1099T= (p.Phe367=)
c.913T= (p.Phe305=)
n.1030T=
13g.113118620T>ACA388786168F7c.947T>A (p.Phe316Tyr)
c.1013T>A (p.Phe338Tyr)
c.761T>A (p.Phe254Tyr)
n.1034T>A
c.806T>A (p.Phe269Tyr)
c.1055T>A (p.Phe352Tyr)
c.869T>A (p.Phe290Tyr)
c.707T>A (p.Phe236Tyr)
c.1016T>A (p.Phe339Tyr)
c.851T>A (p.Phe284Tyr)
c.1100T>A (p.Phe367Tyr)
c.914T>A (p.Phe305Tyr)
n.1031T>A
13g.113118620T>CCA388786169F7c.947T>C (p.Phe316Ser)
c.1013T>C (p.Phe338Ser)
c.761T>C (p.Phe254Ser)
n.1034T>C
c.806T>C (p.Phe269Ser)
c.1055T>C (p.Phe352Ser)
c.869T>C (p.Phe290Ser)
c.707T>C (p.Phe236Ser)
c.1016T>C (p.Phe339Ser)
c.851T>C (p.Phe284Ser)
c.1100T>C (p.Phe367Ser)
c.914T>C (p.Phe305Ser)
n.1031T>C
13g.113118620T>GCA388786170F7c.947T>G (p.Phe316Cys)
c.1013T>G (p.Phe338Cys)
c.761T>G (p.Phe254Cys)
n.1034T>G
c.806T>G (p.Phe269Cys)
c.1055T>G (p.Phe352Cys)
c.869T>G (p.Phe290Cys)
c.707T>G (p.Phe236Cys)
c.1016T>G (p.Phe339Cys)
c.851T>G (p.Phe284Cys)
c.1100T>G (p.Phe367Cys)
c.914T>G (p.Phe305Cys)
n.1031T>G
13g.113118621C>ACA388786171F7c.948C>A (p.Phe316Leu)
c.1014C>A (p.Phe338Leu)
c.762C>A (p.Phe254Leu)
n.1035C>A
c.807C>A (p.Phe269Leu)
c.1056C>A (p.Phe352Leu)
c.870C>A (p.Phe290Leu)
c.708C>A (p.Phe236Leu)
c.1017C>A (p.Phe339Leu)
c.852C>A (p.Phe284Leu)
c.1101C>A (p.Phe367Leu)
c.915C>A (p.Phe305Leu)
n.1032C>A
13g.113118621C=CA2120142212F7c.948C= (p.Phe316=)
c.1014C= (p.Phe338=)
c.762C= (p.Phe254=)
n.1035C=
c.807C= (p.Phe269=)
c.1056C= (p.Phe352=)
c.870C= (p.Phe290=)
c.708C= (p.Phe236=)
c.1017C= (p.Phe339=)
c.852C= (p.Phe284=)
c.1101C= (p.Phe367=)
c.915C= (p.Phe305=)
n.1032C=
13g.113118621C>GCA7060195F7c.948C>G (p.Phe316Leu)
c.1014C>G (p.Phe338Leu)
c.762C>G (p.Phe254Leu)
n.1035C>G
c.807C>G (p.Phe269Leu)
c.1056C>G (p.Phe352Leu)
c.870C>G (p.Phe290Leu)
c.708C>G (p.Phe236Leu)
c.1017C>G (p.Phe339Leu)
c.852C>G (p.Phe284Leu)
c.1101C>G (p.Phe367Leu)
c.915C>G (p.Phe305Leu)
n.1032C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118621C>TCA485423946F7c.948C>T (p.Phe316=)
c.1014C>T (p.Phe338=)
c.762C>T (p.Phe254=)
n.1035C>T
c.807C>T (p.Phe269=)
c.1056C>T (p.Phe352=)
c.870C>T (p.Phe290=)
c.708C>T (p.Phe236=)
c.1017C>T (p.Phe339=)
c.852C>T (p.Phe284=)
c.1101C>T (p.Phe367=)
c.915C>T (p.Phe305=)
n.1032C>T
13g.113118622T>ACA388786172F7c.949T>A (p.Ser317Thr)
c.1015T>A (p.Ser339Thr)
c.763T>A (p.Ser255Thr)
n.1036T>A
c.808T>A (p.Ser270Thr)
c.1057T>A (p.Ser353Thr)
c.871T>A (p.Ser291Thr)
c.709T>A (p.Ser237Thr)
c.1018T>A (p.Ser340Thr)
c.853T>A (p.Ser285Thr)
c.1102T>A (p.Ser368Thr)
c.916T>A (p.Ser306Thr)
n.1033T>A
13g.113118622T>CCA388786173F7c.949T>C (p.Ser317Pro)
c.1015T>C (p.Ser339Pro)
c.763T>C (p.Ser255Pro)
n.1036T>C
c.808T>C (p.Ser270Pro)
c.1057T>C (p.Ser353Pro)
c.871T>C (p.Ser291Pro)
c.709T>C (p.Ser237Pro)
c.1018T>C (p.Ser340Pro)
c.853T>C (p.Ser285Pro)
c.1102T>C (p.Ser368Pro)
c.916T>C (p.Ser306Pro)
n.1033T>C
13g.113118622T>GCA388786174F7c.949T>G (p.Ser317Ala)
c.1015T>G (p.Ser339Ala)
c.763T>G (p.Ser255Ala)
n.1036T>G
c.808T>G (p.Ser270Ala)
c.1057T>G (p.Ser353Ala)
c.871T>G (p.Ser291Ala)
c.709T>G (p.Ser237Ala)
c.1018T>G (p.Ser340Ala)
c.853T>G (p.Ser285Ala)
c.1102T>G (p.Ser368Ala)
c.916T>G (p.Ser306Ala)
n.1033T>G
13g.113118623C>ACA388786175F7c.950C>A (p.Ser317Ter)
c.1016C>A (p.Ser339Ter)
c.764C>A (p.Ser255Ter)
n.1037C>A
c.809C>A (p.Ser270Ter)
c.1058C>A (p.Ser353Ter)
c.872C>A (p.Ser291Ter)
c.710C>A (p.Ser237Ter)
c.1019C>A (p.Ser340Ter)
c.854C>A (p.Ser285Ter)
c.1103C>A (p.Ser368Ter)
c.917C>A (p.Ser306Ter)
n.1034C>A
13g.113118623C>GCA388786176F7c.950C>G (p.Ser317Ter)
c.1016C>G (p.Ser339Ter)
c.764C>G (p.Ser255Ter)
n.1037C>G
c.809C>G (p.Ser270Ter)
c.1058C>G (p.Ser353Ter)
c.872C>G (p.Ser291Ter)
c.710C>G (p.Ser237Ter)
c.1019C>G (p.Ser340Ter)
c.854C>G (p.Ser285Ter)
c.1103C>G (p.Ser368Ter)
c.917C>G (p.Ser306Ter)
n.1034C>G
13g.113118623C>TCA388786177F7c.950C>T (p.Ser317Leu)
c.1016C>T (p.Ser339Leu)
c.764C>T (p.Ser255Leu)
n.1037C>T
c.809C>T (p.Ser270Leu)
c.1058C>T (p.Ser353Leu)
c.872C>T (p.Ser291Leu)
c.710C>T (p.Ser237Leu)
c.1019C>T (p.Ser340Leu)
c.854C>T (p.Ser285Leu)
c.1103C>T (p.Ser368Leu)
c.917C>T (p.Ser306Leu)
n.1034C>T
13g.113118624A=CA2120142213F7c.951A= (p.Ser317=)
c.1017A= (p.Ser339=)
c.765A= (p.Ser255=)
n.1038A=
c.810A= (p.Ser270=)
c.1059A= (p.Ser353=)
c.873A= (p.Ser291=)
c.711A= (p.Ser237=)
c.1020A= (p.Ser340=)
c.855A= (p.Ser285=)
c.1104A= (p.Ser368=)
c.918A= (p.Ser306=)
n.1035A=
13g.113118624A>CCA485423947F7c.951A>C (p.Ser317=)
c.1017A>C (p.Ser339=)
c.765A>C (p.Ser255=)
n.1038A>C
c.810A>C (p.Ser270=)
c.1059A>C (p.Ser353=)
c.873A>C (p.Ser291=)
c.711A>C (p.Ser237=)
c.1020A>C (p.Ser340=)
c.855A>C (p.Ser285=)
c.1104A>C (p.Ser368=)
c.918A>C (p.Ser306=)
n.1035A>C
13g.113118624A>GCA7060196F7c.951A>G (p.Ser317=)
c.1017A>G (p.Ser339=)
c.765A>G (p.Ser255=)
n.1038A>G
c.810A>G (p.Ser270=)
c.1059A>G (p.Ser353=)
c.873A>G (p.Ser291=)
c.711A>G (p.Ser237=)
c.1020A>G (p.Ser340=)
c.855A>G (p.Ser285=)
c.1104A>G (p.Ser368=)
c.918A>G (p.Ser306=)
n.1035A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118624A>TCA485423948F7c.951A>T (p.Ser317=)
c.1017A>T (p.Ser339=)
c.765A>T (p.Ser255=)
n.1038A>T
c.810A>T (p.Ser270=)
c.1059A>T (p.Ser353=)
c.873A>T (p.Ser291=)
c.711A>T (p.Ser237=)
c.1020A>T (p.Ser340=)
c.855A>T (p.Ser285=)
c.1104A>T (p.Ser368=)
c.918A>T (p.Ser306=)
n.1035A>T
13g.113118625T>ACA388786179F7c.952T>A (p.Leu318Met)
c.1018T>A (p.Leu340Met)
c.766T>A (p.Leu256Met)
n.1039T>A
c.811T>A (p.Leu271Met)
c.1060T>A (p.Leu354Met)
c.874T>A (p.Leu292Met)
c.712T>A (p.Leu238Met)
c.1021T>A (p.Leu341Met)
c.856T>A (p.Leu286Met)
c.1105T>A (p.Leu369Met)
c.919T>A (p.Leu307Met)
n.1036T>A
13g.113118625T>CCA485423949F7c.952T>C (p.Leu318=)
c.1018T>C (p.Leu340=)
c.766T>C (p.Leu256=)
n.1039T>C
c.811T>C (p.Leu271=)
c.1060T>C (p.Leu354=)
c.874T>C (p.Leu292=)
c.712T>C (p.Leu238=)
c.1021T>C (p.Leu341=)
c.856T>C (p.Leu286=)
c.1105T>C (p.Leu369=)
c.919T>C (p.Leu307=)
n.1036T>C
13g.113118625T>GCA388786178F7c.952T>G (p.Leu318Val)
c.1018T>G (p.Leu340Val)
c.766T>G (p.Leu256Val)
n.1039T>G
c.811T>G (p.Leu271Val)
c.1060T>G (p.Leu354Val)
c.874T>G (p.Leu292Val)
c.712T>G (p.Leu238Val)
c.1021T>G (p.Leu341Val)
c.856T>G (p.Leu286Val)
c.1105T>G (p.Leu369Val)
c.919T>G (p.Leu307Val)
n.1036T>G
13g.113118626T>ACA388786180F7c.953T>A (p.Leu318Ter)
c.1019T>A (p.Leu340Ter)
c.767T>A (p.Leu256Ter)
n.1040T>A
c.812T>A (p.Leu271Ter)
c.1061T>A (p.Leu354Ter)
c.875T>A (p.Leu292Ter)
c.713T>A (p.Leu238Ter)
c.1022T>A (p.Leu341Ter)
c.857T>A (p.Leu286Ter)
c.1106T>A (p.Leu369Ter)
c.920T>A (p.Leu307Ter)
n.1037T>A
13g.113118626T>CCA388786181F7c.953T>C (p.Leu318Ser)
c.1019T>C (p.Leu340Ser)
c.767T>C (p.Leu256Ser)
n.1040T>C
c.812T>C (p.Leu271Ser)
c.1061T>C (p.Leu354Ser)
c.875T>C (p.Leu292Ser)
c.713T>C (p.Leu238Ser)
c.1022T>C (p.Leu341Ser)
c.857T>C (p.Leu286Ser)
c.1106T>C (p.Leu369Ser)
c.920T>C (p.Leu307Ser)
n.1037T>C
13g.113118626T>GCA7060197F7c.953T>G (p.Leu318Trp)
c.1019T>G (p.Leu340Trp)
c.767T>G (p.Leu256Trp)
n.1040T>G
c.812T>G (p.Leu271Trp)
c.1061T>G (p.Leu354Trp)
c.875T>G (p.Leu292Trp)
c.713T>G (p.Leu238Trp)
c.1022T>G (p.Leu341Trp)
c.857T>G (p.Leu286Trp)
c.1106T>G (p.Leu369Trp)
c.920T>G (p.Leu307Trp)
n.1037T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118626T=CA2120142219F7c.953T= (p.Leu318=)
c.1019T= (p.Leu340=)
c.767T= (p.Leu256=)
n.1040T=
c.812T= (p.Leu271=)
c.1061T= (p.Leu354=)
c.875T= (p.Leu292=)
c.713T= (p.Leu238=)
c.1022T= (p.Leu341=)
c.857T= (p.Leu286=)
c.1106T= (p.Leu369=)
c.920T= (p.Leu307=)
n.1037T=
13g.113118627G>ACA7060198F7c.954G>A (p.Leu318=)
c.1020G>A (p.Leu340=)
c.768G>A (p.Leu256=)
n.1041G>A
c.813G>A (p.Leu271=)
c.1062G>A (p.Leu354=)
c.876G>A (p.Leu292=)
c.714G>A (p.Leu238=)
c.1023G>A (p.Leu341=)
c.858G>A (p.Leu286=)
c.1107G>A (p.Leu369=)
c.921G>A (p.Leu307=)
n.1038G>A
 dbSNP ExAC
13g.113118627G>CCA388786182F7c.954G>C (p.Leu318Phe)
c.1020G>C (p.Leu340Phe)
c.768G>C (p.Leu256Phe)
n.1041G>C
c.813G>C (p.Leu271Phe)
c.1062G>C (p.Leu354Phe)
c.876G>C (p.Leu292Phe)
c.714G>C (p.Leu238Phe)
c.1023G>C (p.Leu341Phe)
c.858G>C (p.Leu286Phe)
c.1107G>C (p.Leu369Phe)
c.921G>C (p.Leu307Phe)
n.1038G>C
13g.113118627G=CA2120142234F7c.954G= (p.Leu318=)
c.1020G= (p.Leu340=)
c.768G= (p.Leu256=)
n.1041G=
c.813G= (p.Leu271=)
c.1062G= (p.Leu354=)
c.876G= (p.Leu292=)
c.714G= (p.Leu238=)
c.1023G= (p.Leu341=)
c.858G= (p.Leu286=)
c.1107G= (p.Leu369=)
c.921G= (p.Leu307=)
n.1038G=
13g.113118627G>TCA388786183F7c.954G>T (p.Leu318Phe)
c.1020G>T (p.Leu340Phe)
c.768G>T (p.Leu256Phe)
n.1041G>T
c.813G>T (p.Leu271Phe)
c.1062G>T (p.Leu354Phe)
c.876G>T (p.Leu292Phe)
c.714G>T (p.Leu238Phe)
c.1023G>T (p.Leu341Phe)
c.858G>T (p.Leu286Phe)
c.1107G>T (p.Leu369Phe)
c.921G>T (p.Leu307Phe)
n.1038G>T
13g.113118628G>ACA388786186F7c.955G>A (p.Val319Ile)
c.1021G>A (p.Val341Ile)
c.769G>A (p.Val257Ile)
n.1042G>A
c.814G>A (p.Val272Ile)
c.1063G>A (p.Val355Ile)
c.877G>A (p.Val293Ile)
c.715G>A (p.Val239Ile)
c.1024G>A (p.Val342Ile)
c.859G>A (p.Val287Ile)
c.1108G>A (p.Val370Ile)
c.922G>A (p.Val308Ile)
n.1039G>A
13g.113118628G>CCA388786185F7c.955G>C (p.Val319Leu)
c.1021G>C (p.Val341Leu)
c.769G>C (p.Val257Leu)
n.1042G>C
c.814G>C (p.Val272Leu)
c.1063G>C (p.Val355Leu)
c.877G>C (p.Val293Leu)
c.715G>C (p.Val239Leu)
c.1024G>C (p.Val342Leu)
c.859G>C (p.Val287Leu)
c.1108G>C (p.Val370Leu)
c.922G>C (p.Val308Leu)
n.1039G>C
13g.113118628G>TCA388786184F7c.955G>T (p.Val319Phe)
c.1021G>T (p.Val341Phe)
c.769G>T (p.Val257Phe)
n.1042G>T
c.814G>T (p.Val272Phe)
c.1063G>T (p.Val355Phe)
c.877G>T (p.Val293Phe)
c.715G>T (p.Val239Phe)
c.1024G>T (p.Val342Phe)
c.859G>T (p.Val287Phe)
c.1108G>T (p.Val370Phe)
c.922G>T (p.Val308Phe)
n.1039G>T
13g.113118629T>ACA388786187F7c.956T>A (p.Val319Asp)
c.1022T>A (p.Val341Asp)
c.770T>A (p.Val257Asp)
n.1043T>A
c.815T>A (p.Val272Asp)
c.1064T>A (p.Val355Asp)
c.878T>A (p.Val293Asp)
c.716T>A (p.Val239Asp)
c.1025T>A (p.Val342Asp)
c.860T>A (p.Val287Asp)
c.1109T>A (p.Val370Asp)
c.923T>A (p.Val308Asp)
n.1040T>A
13g.113118629T>CCA388786188F7c.956T>C (p.Val319Ala)
c.1022T>C (p.Val341Ala)
c.770T>C (p.Val257Ala)
n.1043T>C
c.815T>C (p.Val272Ala)
c.1064T>C (p.Val355Ala)
c.878T>C (p.Val293Ala)
c.716T>C (p.Val239Ala)
c.1025T>C (p.Val342Ala)
c.860T>C (p.Val287Ala)
c.1109T>C (p.Val370Ala)
c.923T>C (p.Val308Ala)
n.1040T>C
13g.113118629T>GCA388786189F7c.956T>G (p.Val319Gly)
c.1022T>G (p.Val341Gly)
c.770T>G (p.Val257Gly)
n.1043T>G
c.815T>G (p.Val272Gly)
c.1064T>G (p.Val355Gly)
c.878T>G (p.Val293Gly)
c.716T>G (p.Val239Gly)
c.1025T>G (p.Val342Gly)
c.860T>G (p.Val287Gly)
c.1109T>G (p.Val370Gly)
c.923T>G (p.Val308Gly)
n.1040T>G
13g.113118630C>ACA485423952F7c.957C>A (p.Val319=)
c.1023C>A (p.Val341=)
c.771C>A (p.Val257=)
n.1044C>A
c.816C>A (p.Val272=)
c.1065C>A (p.Val355=)
c.879C>A (p.Val293=)
c.717C>A (p.Val239=)
c.1026C>A (p.Val342=)
c.861C>A (p.Val287=)
c.1110C>A (p.Val370=)
c.924C>A (p.Val308=)
n.1041C>A
13g.113118630C=CA2120142241F7c.957C= (p.Val319=)
c.1023C= (p.Val341=)
c.771C= (p.Val257=)
n.1044C=
c.816C= (p.Val272=)
c.1065C= (p.Val355=)
c.879C= (p.Val293=)
c.717C= (p.Val239=)
c.1026C= (p.Val342=)
c.861C= (p.Val287=)
c.1110C= (p.Val370=)
c.924C= (p.Val308=)
n.1041C=
13g.113118630C>GCA485423951F7c.957C>G (p.Val319=)
c.1023C>G (p.Val341=)
c.771C>G (p.Val257=)
n.1044C>G
c.816C>G (p.Val272=)
c.1065C>G (p.Val355=)
c.879C>G (p.Val293=)
c.717C>G (p.Val239=)
c.1026C>G (p.Val342=)
c.861C>G (p.Val287=)
c.1110C>G (p.Val370=)
c.924C>G (p.Val308=)
n.1041C>G
13g.113118630C>TCA485423950F7c.957C>T (p.Val319=)
c.1023C>T (p.Val341=)
c.771C>T (p.Val257=)
n.1044C>T
c.816C>T (p.Val272=)
c.1065C>T (p.Val355=)
c.879C>T (p.Val293=)
c.717C>T (p.Val239=)
c.1026C>T (p.Val342=)
c.861C>T (p.Val287=)
c.1110C>T (p.Val370=)
c.924C>T (p.Val308=)
n.1041C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118631A=CA2120142246F7c.958A= (p.Ser320=)
c.1024A= (p.Ser342=)
c.772A= (p.Ser258=)
n.1045A=
c.817A= (p.Ser273=)
c.1066A= (p.Ser356=)
c.880A= (p.Ser294=)
c.718A= (p.Ser240=)
c.1027A= (p.Ser343=)
c.862A= (p.Ser288=)
c.1111A= (p.Ser371=)
c.925A= (p.Ser309=)
n.1042A=
13g.113118631A>CCA388786190F7c.958A>C (p.Ser320Arg)
c.1024A>C (p.Ser342Arg)
c.772A>C (p.Ser258Arg)
n.1045A>C
c.817A>C (p.Ser273Arg)
c.1066A>C (p.Ser356Arg)
c.880A>C (p.Ser294Arg)
c.718A>C (p.Ser240Arg)
c.1027A>C (p.Ser343Arg)
c.862A>C (p.Ser288Arg)
c.1111A>C (p.Ser371Arg)
c.925A>C (p.Ser309Arg)
n.1042A>C
13g.113118631A>GCA388786191F7c.958A>G (p.Ser320Gly)
c.1024A>G (p.Ser342Gly)
c.772A>G (p.Ser258Gly)
n.1045A>G
c.817A>G (p.Ser273Gly)
c.1066A>G (p.Ser356Gly)
c.880A>G (p.Ser294Gly)
c.718A>G (p.Ser240Gly)
c.1027A>G (p.Ser343Gly)
c.862A>G (p.Ser288Gly)
c.1111A>G (p.Ser371Gly)
c.925A>G (p.Ser309Gly)
n.1042A>G
13g.113118631A>TCA388786192F7c.958A>T (p.Ser320Cys)
c.1024A>T (p.Ser342Cys)
c.772A>T (p.Ser258Cys)
n.1045A>T
c.817A>T (p.Ser273Cys)
c.1066A>T (p.Ser356Cys)
c.880A>T (p.Ser294Cys)
c.718A>T (p.Ser240Cys)
c.1027A>T (p.Ser343Cys)
c.862A>T (p.Ser288Cys)
c.1111A>T (p.Ser371Cys)
c.925A>T (p.Ser309Cys)
n.1042A>T
 dbSNP
13g.113118632G>ACA388786193F7c.959G>A (p.Ser320Asn)
c.1025G>A (p.Ser342Asn)
c.773G>A (p.Ser258Asn)
n.1046G>A
c.818G>A (p.Ser273Asn)
c.1067G>A (p.Ser356Asn)
c.881G>A (p.Ser294Asn)
c.719G>A (p.Ser240Asn)
c.1028G>A (p.Ser343Asn)
c.863G>A (p.Ser288Asn)
c.1112G>A (p.Ser371Asn)
c.926G>A (p.Ser309Asn)
n.1043G>A
 dbSNP
13g.113118632G>CCA388786195F7c.959G>C (p.Ser320Thr)
c.1025G>C (p.Ser342Thr)
c.773G>C (p.Ser258Thr)
n.1046G>C
c.818G>C (p.Ser273Thr)
c.1067G>C (p.Ser356Thr)
c.881G>C (p.Ser294Thr)
c.719G>C (p.Ser240Thr)
c.1028G>C (p.Ser343Thr)
c.863G>C (p.Ser288Thr)
c.1112G>C (p.Ser371Thr)
c.926G>C (p.Ser309Thr)
n.1043G>C
13g.113118632G>TCA388786194F7c.959G>T (p.Ser320Ile)
c.1025G>T (p.Ser342Ile)
c.773G>T (p.Ser258Ile)
n.1046G>T
c.818G>T (p.Ser273Ile)
c.1067G>T (p.Ser356Ile)
c.881G>T (p.Ser294Ile)
c.719G>T (p.Ser240Ile)
c.1028G>T (p.Ser343Ile)
c.863G>T (p.Ser288Ile)
c.1112G>T (p.Ser371Ile)
c.926G>T (p.Ser309Ile)
n.1043G>T
13g.113118633C>ACA388786196F7c.960C>A (p.Ser320Arg)
c.1026C>A (p.Ser342Arg)
c.774C>A (p.Ser258Arg)
n.1047C>A
c.819C>A (p.Ser273Arg)
c.1068C>A (p.Ser356Arg)
c.882C>A (p.Ser294Arg)
c.720C>A (p.Ser240Arg)
c.1029C>A (p.Ser343Arg)
c.864C>A (p.Ser288Arg)
c.1113C>A (p.Ser371Arg)
c.927C>A (p.Ser309Arg)
n.1044C>A
13g.113118633C=CA2120142248F7c.960C= (p.Ser320=)
c.1026C= (p.Ser342=)
c.774C= (p.Ser258=)
n.1047C=
c.819C= (p.Ser273=)
c.1068C= (p.Ser356=)
c.882C= (p.Ser294=)
c.720C= (p.Ser240=)
c.1029C= (p.Ser343=)
c.864C= (p.Ser288=)
c.1113C= (p.Ser371=)
c.927C= (p.Ser309=)
n.1044C=
13g.113118633C>GCA388786197F7c.960C>G (p.Ser320Arg)
c.1026C>G (p.Ser342Arg)
c.774C>G (p.Ser258Arg)
n.1047C>G
c.819C>G (p.Ser273Arg)
c.1068C>G (p.Ser356Arg)
c.882C>G (p.Ser294Arg)
c.720C>G (p.Ser240Arg)
c.1029C>G (p.Ser343Arg)
c.864C>G (p.Ser288Arg)
c.1113C>G (p.Ser371Arg)
c.927C>G (p.Ser309Arg)
n.1044C>G
13g.113118633C>TCA7060199F7c.960C>T (p.Ser320=)
c.1026C>T (p.Ser342=)
c.774C>T (p.Ser258=)
n.1047C>T
c.819C>T (p.Ser273=)
c.1068C>T (p.Ser356=)
c.882C>T (p.Ser294=)
c.720C>T (p.Ser240=)
c.1029C>T (p.Ser343=)
c.864C>T (p.Ser288=)
c.1113C>T (p.Ser371=)
c.927C>T (p.Ser309=)
n.1044C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118634G>ACA388786198F7c.961G>A (p.Gly321Ser)
c.1027G>A (p.Gly343Ser)
c.775G>A (p.Gly259Ser)
n.1048G>A
c.820G>A (p.Gly274Ser)
c.1069G>A (p.Gly357Ser)
c.883G>A (p.Gly295Ser)
c.721G>A (p.Gly241Ser)
c.1030G>A (p.Gly344Ser)
c.865G>A (p.Gly289Ser)
c.1114G>A (p.Gly372Ser)
c.928G>A (p.Gly310Ser)
n.1045G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118634G>CCA388786199F7c.961G>C (p.Gly321Arg)
c.1027G>C (p.Gly343Arg)
c.775G>C (p.Gly259Arg)
n.1048G>C
c.820G>C (p.Gly274Arg)
c.1069G>C (p.Gly357Arg)
c.883G>C (p.Gly295Arg)
c.721G>C (p.Gly241Arg)
c.1030G>C (p.Gly344Arg)
c.865G>C (p.Gly289Arg)
c.1114G>C (p.Gly372Arg)
c.928G>C (p.Gly310Arg)
n.1045G>C
13g.113118634G=CA2120142250F7c.961G= (p.Gly321=)
c.1027G= (p.Gly343=)
c.775G= (p.Gly259=)
n.1048G=
c.820G= (p.Gly274=)
c.1069G= (p.Gly357=)
c.883G= (p.Gly295=)
c.721G= (p.Gly241=)
c.1030G= (p.Gly344=)
c.865G= (p.Gly289=)
c.1114G= (p.Gly372=)
c.928G= (p.Gly310=)
n.1045G=
13g.113118634G>TCA388786200F7c.961G>T (p.Gly321Cys)
c.1027G>T (p.Gly343Cys)
c.775G>T (p.Gly259Cys)
n.1048G>T
c.820G>T (p.Gly274Cys)
c.1069G>T (p.Gly357Cys)
c.883G>T (p.Gly295Cys)
c.721G>T (p.Gly241Cys)
c.1030G>T (p.Gly344Cys)
c.865G>T (p.Gly289Cys)
c.1114G>T (p.Gly372Cys)
c.928G>T (p.Gly310Cys)
n.1045G>T
13g.113118635G>ACA388786201F7c.962G>A (p.Gly321Asp)
c.1028G>A (p.Gly343Asp)
c.776G>A (p.Gly259Asp)
n.1049G>A
c.821G>A (p.Gly274Asp)
c.1070G>A (p.Gly357Asp)
c.884G>A (p.Gly295Asp)
c.722G>A (p.Gly241Asp)
c.1031G>A (p.Gly344Asp)
c.866G>A (p.Gly289Asp)
c.1115G>A (p.Gly372Asp)
c.929G>A (p.Gly310Asp)
n.1046G>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118635G>CCA388786202F7c.962G>C (p.Gly321Ala)
c.1028G>C (p.Gly343Ala)
c.776G>C (p.Gly259Ala)
n.1049G>C
c.821G>C (p.Gly274Ala)
c.1070G>C (p.Gly357Ala)
c.884G>C (p.Gly295Ala)
c.722G>C (p.Gly241Ala)
c.1031G>C (p.Gly344Ala)
c.866G>C (p.Gly289Ala)
c.1115G>C (p.Gly372Ala)
c.929G>C (p.Gly310Ala)
n.1046G>C
13g.113118635G=CA2120142254F7c.962G= (p.Gly321=)
c.1028G= (p.Gly343=)
c.776G= (p.Gly259=)
n.1049G=
c.821G= (p.Gly274=)
c.1070G= (p.Gly357=)
c.884G= (p.Gly295=)
c.722G= (p.Gly241=)
c.1031G= (p.Gly344=)
c.866G= (p.Gly289=)
c.1115G= (p.Gly372=)
c.929G= (p.Gly310=)
n.1046G=
13g.113118635G>TCA388786203F7c.962G>T (p.Gly321Val)
c.1028G>T (p.Gly343Val)
c.776G>T (p.Gly259Val)
n.1049G>T
c.821G>T (p.Gly274Val)
c.1070G>T (p.Gly357Val)
c.884G>T (p.Gly295Val)
c.722G>T (p.Gly241Val)
c.1031G>T (p.Gly344Val)
c.866G>T (p.Gly289Val)
c.1115G>T (p.Gly372Val)
c.929G>T (p.Gly310Val)
n.1046G>T
13g.113118636C>ACA485423953F7c.963C>A (p.Gly321=)
c.1029C>A (p.Gly343=)
c.777C>A (p.Gly259=)
n.1050C>A
c.822C>A (p.Gly274=)
c.1071C>A (p.Gly357=)
c.885C>A (p.Gly295=)
c.723C>A (p.Gly241=)
c.1032C>A (p.Gly344=)
c.867C>A (p.Gly289=)
c.1116C>A (p.Gly372=)
c.930C>A (p.Gly310=)
n.1047C>A
13g.113118636C>GCA485423954F7c.963C>G (p.Gly321=)
c.1029C>G (p.Gly343=)
c.777C>G (p.Gly259=)
n.1050C>G
c.822C>G (p.Gly274=)
c.1071C>G (p.Gly357=)
c.885C>G (p.Gly295=)
c.723C>G (p.Gly241=)
c.1032C>G (p.Gly344=)
c.867C>G (p.Gly289=)
c.1116C>G (p.Gly372=)
c.930C>G (p.Gly310=)
n.1047C>G
13g.113118636C>TCA485423955F7c.963C>T (p.Gly321=)
c.1029C>T (p.Gly343=)
c.777C>T (p.Gly259=)
n.1050C>T
c.822C>T (p.Gly274=)
c.1071C>T (p.Gly357=)
c.885C>T (p.Gly295=)
c.723C>T (p.Gly241=)
c.1032C>T (p.Gly344=)
c.867C>T (p.Gly289=)
c.1116C>T (p.Gly372=)
c.930C>T (p.Gly310=)
n.1047C>T
13g.113118637T>ACA388786204F7c.964T>A (p.Trp322Arg)
c.1030T>A (p.Trp344Arg)
c.778T>A (p.Trp260Arg)
n.1051T>A
c.823T>A (p.Trp275Arg)
c.1072T>A (p.Trp358Arg)
c.886T>A (p.Trp296Arg)
c.724T>A (p.Trp242Arg)
c.1033T>A (p.Trp345Arg)
c.868T>A (p.Trp290Arg)
c.1117T>A (p.Trp373Arg)
c.931T>A (p.Trp311Arg)
n.1048T>A
13g.113118637T>CCA388786205F7c.964T>C (p.Trp322Arg)
c.1030T>C (p.Trp344Arg)
c.778T>C (p.Trp260Arg)
n.1051T>C
c.823T>C (p.Trp275Arg)
c.1072T>C (p.Trp358Arg)
c.886T>C (p.Trp296Arg)
c.724T>C (p.Trp242Arg)
c.1033T>C (p.Trp345Arg)
c.868T>C (p.Trp290Arg)
c.1117T>C (p.Trp373Arg)
c.931T>C (p.Trp311Arg)
n.1048T>C
13g.113118637T>GCA388786206F7c.964T>G (p.Trp322Gly)
c.1030T>G (p.Trp344Gly)
c.778T>G (p.Trp260Gly)
n.1051T>G
c.823T>G (p.Trp275Gly)
c.1072T>G (p.Trp358Gly)
c.886T>G (p.Trp296Gly)
c.724T>G (p.Trp242Gly)
c.1033T>G (p.Trp345Gly)
c.868T>G (p.Trp290Gly)
c.1117T>G (p.Trp373Gly)
c.931T>G (p.Trp311Gly)
n.1048T>G
13g.113118638G>ACA388786207F7c.965G>A (p.Trp322Ter)
c.1031G>A (p.Trp344Ter)
c.779G>A (p.Trp260Ter)
n.1052G>A
c.824G>A (p.Trp275Ter)
c.1073G>A (p.Trp358Ter)
c.887G>A (p.Trp296Ter)
c.725G>A (p.Trp242Ter)
c.1034G>A (p.Trp345Ter)
c.869G>A (p.Trp290Ter)
c.1118G>A (p.Trp373Ter)
c.932G>A (p.Trp311Ter)
n.1049G>A
 gnomAD v4
13g.113118638G>CCA388786209F7c.965G>C (p.Trp322Ser)
c.1031G>C (p.Trp344Ser)
c.779G>C (p.Trp260Ser)
n.1052G>C
c.824G>C (p.Trp275Ser)
c.1073G>C (p.Trp358Ser)
c.887G>C (p.Trp296Ser)
c.725G>C (p.Trp242Ser)
c.1034G>C (p.Trp345Ser)
c.869G>C (p.Trp290Ser)
c.1118G>C (p.Trp373Ser)
c.932G>C (p.Trp311Ser)
n.1049G>C
13g.113118638G>TCA388786208F7c.965G>T (p.Trp322Leu)
c.1031G>T (p.Trp344Leu)
c.779G>T (p.Trp260Leu)
n.1052G>T
c.824G>T (p.Trp275Leu)
c.1073G>T (p.Trp358Leu)
c.887G>T (p.Trp296Leu)
c.725G>T (p.Trp242Leu)
c.1034G>T (p.Trp345Leu)
c.869G>T (p.Trp290Leu)
c.1118G>T (p.Trp373Leu)
c.932G>T (p.Trp311Leu)
n.1049G>T
13g.113118641delCA2729207345F7c.968del (p.Gly323AlafsTer21)
c.1034del (p.Gly345AlafsTer21)
c.782del (p.Gly261AlafsTer21)
n.1055del
c.827del (p.Gly276AlafsTer21)
c.1076del (p.Gly359AlafsTer21)
c.890del (p.Gly297AlafsTer21)
c.728del (p.Gly243AlafsTer21)
c.1037del (p.Gly346AlafsTer21)
c.872del (p.Gly291AlafsTer21)
c.1121del (p.Gly374AlafsTer21)
c.935del (p.Gly312AlafsTer21)
n.1052del
 dbSNP
13g.113118639G>ACA388786210F7c.966G>A (p.Trp322Ter)
c.1032G>A (p.Trp344Ter)
c.780G>A (p.Trp260Ter)
n.1053G>A
c.825G>A (p.Trp275Ter)
c.1074G>A (p.Trp358Ter)
c.888G>A (p.Trp296Ter)
c.726G>A (p.Trp242Ter)
c.1035G>A (p.Trp345Ter)
c.870G>A (p.Trp290Ter)
c.1119G>A (p.Trp373Ter)
c.933G>A (p.Trp311Ter)
n.1050G>A
13g.113118639G>CCA388786211F7c.966G>C (p.Trp322Cys)
c.1032G>C (p.Trp344Cys)
c.780G>C (p.Trp260Cys)
n.1053G>C
c.825G>C (p.Trp275Cys)
c.1074G>C (p.Trp358Cys)
c.888G>C (p.Trp296Cys)
c.726G>C (p.Trp242Cys)
c.1035G>C (p.Trp345Cys)
c.870G>C (p.Trp290Cys)
c.1119G>C (p.Trp373Cys)
c.933G>C (p.Trp311Cys)
n.1050G>C
 gnomAD v4
13g.113118639G>TCA388786212F7c.966G>T (p.Trp322Cys)
c.1032G>T (p.Trp344Cys)
c.780G>T (p.Trp260Cys)
n.1053G>T
c.825G>T (p.Trp275Cys)
c.1074G>T (p.Trp358Cys)
c.888G>T (p.Trp296Cys)
c.726G>T (p.Trp242Cys)
c.1035G>T (p.Trp345Cys)
c.870G>T (p.Trp290Cys)
c.1119G>T (p.Trp373Cys)
c.933G>T (p.Trp311Cys)
n.1050G>T
 gnomAD v4
13g.113118640G>ACA388786213F7c.967G>A (p.Gly323Ser)
c.1033G>A (p.Gly345Ser)
c.781G>A (p.Gly261Ser)
n.1054G>A
c.826G>A (p.Gly276Ser)
c.1075G>A (p.Gly359Ser)
c.889G>A (p.Gly297Ser)
c.727G>A (p.Gly243Ser)
c.1036G>A (p.Gly346Ser)
c.871G>A (p.Gly291Ser)
c.1120G>A (p.Gly374Ser)
c.934G>A (p.Gly312Ser)
n.1051G>A
 dbSNP
13g.113118640G>CCA388786214F7c.967G>C (p.Gly323Arg)
c.1033G>C (p.Gly345Arg)
c.781G>C (p.Gly261Arg)
n.1054G>C
c.826G>C (p.Gly276Arg)
c.1075G>C (p.Gly359Arg)
c.889G>C (p.Gly297Arg)
c.727G>C (p.Gly243Arg)
c.1036G>C (p.Gly346Arg)
c.871G>C (p.Gly291Arg)
c.1120G>C (p.Gly374Arg)
c.934G>C (p.Gly312Arg)
n.1051G>C
13g.113118640G=CA2120142255F7c.967G= (p.Gly323=)
c.1033G= (p.Gly345=)
c.781G= (p.Gly261=)
n.1054G=
c.826G= (p.Gly276=)
c.1075G= (p.Gly359=)
c.889G= (p.Gly297=)
c.727G= (p.Gly243=)
c.1036G= (p.Gly346=)
c.871G= (p.Gly291=)
c.1120G= (p.Gly374=)
c.934G= (p.Gly312=)
n.1051G=
13g.113118640G>TCA388786215F7c.967G>T (p.Gly323Cys)
c.1033G>T (p.Gly345Cys)
c.781G>T (p.Gly261Cys)
n.1054G>T
c.826G>T (p.Gly276Cys)
c.1075G>T (p.Gly359Cys)
c.889G>T (p.Gly297Cys)
c.727G>T (p.Gly243Cys)
c.1036G>T (p.Gly346Cys)
c.871G>T (p.Gly291Cys)
c.1120G>T (p.Gly374Cys)
c.934G>T (p.Gly312Cys)
n.1051G>T
 gnomAD v4
13g.113118641G>ACA388786218F7c.968G>A (p.Gly323Asp)
c.1034G>A (p.Gly345Asp)
c.782G>A (p.Gly261Asp)
n.1055G>A
c.827G>A (p.Gly276Asp)
c.1076G>A (p.Gly359Asp)
c.890G>A (p.Gly297Asp)
c.728G>A (p.Gly243Asp)
c.1037G>A (p.Gly346Asp)
c.872G>A (p.Gly291Asp)
c.1121G>A (p.Gly374Asp)
c.935G>A (p.Gly312Asp)
n.1052G>A
13g.113118641G>CCA388786217F7c.968G>C (p.Gly323Ala)
c.1034G>C (p.Gly345Ala)
c.782G>C (p.Gly261Ala)
n.1055G>C
c.827G>C (p.Gly276Ala)
c.1076G>C (p.Gly359Ala)
c.890G>C (p.Gly297Ala)
c.728G>C (p.Gly243Ala)
c.1037G>C (p.Gly346Ala)
c.872G>C (p.Gly291Ala)
c.1121G>C (p.Gly374Ala)
c.935G>C (p.Gly312Ala)
n.1052G>C
13g.113118641G>TCA388786216F7c.968G>T (p.Gly323Val)
c.1034G>T (p.Gly345Val)
c.782G>T (p.Gly261Val)
n.1055G>T
c.827G>T (p.Gly276Val)
c.1076G>T (p.Gly359Val)
c.890G>T (p.Gly297Val)
c.728G>T (p.Gly243Val)
c.1037G>T (p.Gly346Val)
c.872G>T (p.Gly291Val)
c.1121G>T (p.Gly374Val)
c.935G>T (p.Gly312Val)
n.1052G>T
13g.113118642C>ACA485423956F7c.969C>A (p.Gly323=)
c.1035C>A (p.Gly345=)
c.783C>A (p.Gly261=)
n.1056C>A
c.828C>A (p.Gly276=)
c.1077C>A (p.Gly359=)
c.891C>A (p.Gly297=)
c.729C>A (p.Gly243=)
c.1038C>A (p.Gly346=)
c.873C>A (p.Gly291=)
c.1122C>A (p.Gly374=)
c.936C>A (p.Gly312=)
n.1053C>A
13g.113118642C>GCA485423958F7c.969C>G (p.Gly323=)
c.1035C>G (p.Gly345=)
c.783C>G (p.Gly261=)
n.1056C>G
c.828C>G (p.Gly276=)
c.1077C>G (p.Gly359=)
c.891C>G (p.Gly297=)
c.729C>G (p.Gly243=)
c.1038C>G (p.Gly346=)
c.873C>G (p.Gly291=)
c.1122C>G (p.Gly374=)
c.936C>G (p.Gly312=)
n.1053C>G
13g.113118642C>TCA485423957F7c.969C>T (p.Gly323=)
c.1035C>T (p.Gly345=)
c.783C>T (p.Gly261=)
n.1056C>T
c.828C>T (p.Gly276=)
c.1077C>T (p.Gly359=)
c.891C>T (p.Gly297=)
c.729C>T (p.Gly243=)
c.1038C>T (p.Gly346=)
c.873C>T (p.Gly291=)
c.1122C>T (p.Gly374=)
c.936C>T (p.Gly312=)
n.1053C>T
 dbSNP
13g.113118643delCA2623809069F7c.970del (p.Gln324SerfsTer20)
c.1036del (p.Gln346SerfsTer20)
c.784del (p.Gln262SerfsTer20)
n.1057del
c.829del (p.Gln277SerfsTer20)
c.1078del (p.Gln360SerfsTer20)
c.892del (p.Gln298SerfsTer20)
c.730del (p.Gln244SerfsTer20)
c.1039del (p.Gln347SerfsTer20)
c.874del (p.Gln292SerfsTer20)
c.1123del (p.Gln375SerfsTer20)
c.937del (p.Gln313SerfsTer20)
n.1054del
 gnomAD v4
13g.113118643C>ACA388786219F7c.970C>A (p.Gln324Lys)
c.1036C>A (p.Gln346Lys)
c.784C>A (p.Gln262Lys)
n.1057C>A
c.829C>A (p.Gln277Lys)
c.1078C>A (p.Gln360Lys)
c.892C>A (p.Gln298Lys)
c.730C>A (p.Gln244Lys)
c.1039C>A (p.Gln347Lys)
c.874C>A (p.Gln292Lys)
c.1123C>A (p.Gln375Lys)
c.937C>A (p.Gln313Lys)
n.1054C>A
13g.113118643C>GCA388786220F7c.970C>G (p.Gln324Glu)
c.1036C>G (p.Gln346Glu)
c.784C>G (p.Gln262Glu)
n.1057C>G
c.829C>G (p.Gln277Glu)
c.1078C>G (p.Gln360Glu)
c.892C>G (p.Gln298Glu)
c.730C>G (p.Gln244Glu)
c.1039C>G (p.Gln347Glu)
c.874C>G (p.Gln292Glu)
c.1123C>G (p.Gln375Glu)
c.937C>G (p.Gln313Glu)
n.1054C>G
13g.113118643C>TCA388786221F7c.970C>T (p.Gln324Ter)
c.1036C>T (p.Gln346Ter)
c.784C>T (p.Gln262Ter)
n.1057C>T
c.829C>T (p.Gln277Ter)
c.1078C>T (p.Gln360Ter)
c.892C>T (p.Gln298Ter)
c.730C>T (p.Gln244Ter)
c.1039C>T (p.Gln347Ter)
c.874C>T (p.Gln292Ter)
c.1123C>T (p.Gln375Ter)
c.937C>T (p.Gln313Ter)
n.1054C>T
13g.113118644A>CCA388786222F7c.971A>C (p.Gln324Pro)
c.1037A>C (p.Gln346Pro)
c.785A>C (p.Gln262Pro)
n.1058A>C
c.830A>C (p.Gln277Pro)
c.1079A>C (p.Gln360Pro)
c.893A>C (p.Gln298Pro)
c.731A>C (p.Gln244Pro)
c.1040A>C (p.Gln347Pro)
c.875A>C (p.Gln292Pro)
c.1124A>C (p.Gln375Pro)
c.938A>C (p.Gln313Pro)
n.1055A>C
13g.113118644A>GCA388786223F7c.971A>G (p.Gln324Arg)
c.1037A>G (p.Gln346Arg)
c.785A>G (p.Gln262Arg)
n.1058A>G
c.830A>G (p.Gln277Arg)
c.1079A>G (p.Gln360Arg)
c.893A>G (p.Gln298Arg)
c.731A>G (p.Gln244Arg)
c.1040A>G (p.Gln347Arg)
c.875A>G (p.Gln292Arg)
c.1124A>G (p.Gln375Arg)
c.938A>G (p.Gln313Arg)
n.1055A>G
 gnomAD v4
13g.113118644A>TCA388786224F7c.971A>T (p.Gln324Leu)
c.1037A>T (p.Gln346Leu)
c.785A>T (p.Gln262Leu)
n.1058A>T
c.830A>T (p.Gln277Leu)
c.1079A>T (p.Gln360Leu)
c.893A>T (p.Gln298Leu)
c.731A>T (p.Gln244Leu)
c.1040A>T (p.Gln347Leu)
c.875A>T (p.Gln292Leu)
c.1124A>T (p.Gln375Leu)
c.938A>T (p.Gln313Leu)
n.1055A>T
 gnomAD v4
13g.113118645G>ACA7060200F7c.972G>A (p.Gln324=)
c.1038G>A (p.Gln346=)
c.786G>A (p.Gln262=)
n.1059G>A
c.831G>A (p.Gln277=)
c.1080G>A (p.Gln360=)
c.894G>A (p.Gln298=)
c.732G>A (p.Gln244=)
c.1041G>A (p.Gln347=)
c.876G>A (p.Gln292=)
c.1125G>A (p.Gln375=)
c.939G>A (p.Gln313=)
n.1056G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118645G>CCA388786226F7c.972G>C (p.Gln324His)
c.1038G>C (p.Gln346His)
c.786G>C (p.Gln262His)
n.1059G>C
c.831G>C (p.Gln277His)
c.1080G>C (p.Gln360His)
c.894G>C (p.Gln298His)
c.732G>C (p.Gln244His)
c.1041G>C (p.Gln347His)
c.876G>C (p.Gln292His)
c.1125G>C (p.Gln375His)
c.939G>C (p.Gln313His)
n.1056G>C
 gnomAD v4
13g.113118645G=CA2120142259F7c.972G= (p.Gln324=)
c.1038G= (p.Gln346=)
c.786G= (p.Gln262=)
n.1059G=
c.831G= (p.Gln277=)
c.1080G= (p.Gln360=)
c.894G= (p.Gln298=)
c.732G= (p.Gln244=)
c.1041G= (p.Gln347=)
c.876G= (p.Gln292=)
c.1125G= (p.Gln375=)
c.939G= (p.Gln313=)
n.1056G=
13g.113118645G>TCA388786225F7c.972G>T (p.Gln324His)
c.1038G>T (p.Gln346His)
c.786G>T (p.Gln262His)
n.1059G>T
c.831G>T (p.Gln277His)
c.1080G>T (p.Gln360His)
c.894G>T (p.Gln298His)
c.732G>T (p.Gln244His)
c.1041G>T (p.Gln347His)
c.876G>T (p.Gln292His)
c.1125G>T (p.Gln375His)
c.939G>T (p.Gln313His)
n.1056G>T
13g.113118646C>ACA388786227F7c.973C>A (p.Leu325Met)
c.1039C>A (p.Leu347Met)
c.787C>A (p.Leu263Met)
n.1060C>A
c.832C>A (p.Leu278Met)
c.1081C>A (p.Leu361Met)
c.895C>A (p.Leu299Met)
c.733C>A (p.Leu245Met)
c.1042C>A (p.Leu348Met)
c.877C>A (p.Leu293Met)
c.1126C>A (p.Leu376Met)
c.940C>A (p.Leu314Met)
n.1057C>A
13g.113118646C>GCA388786228F7c.973C>G (p.Leu325Val)
c.1039C>G (p.Leu347Val)
c.787C>G (p.Leu263Val)
n.1060C>G
c.832C>G (p.Leu278Val)
c.1081C>G (p.Leu361Val)
c.895C>G (p.Leu299Val)
c.733C>G (p.Leu245Val)
c.1042C>G (p.Leu348Val)
c.877C>G (p.Leu293Val)
c.1126C>G (p.Leu376Val)
c.940C>G (p.Leu314Val)
n.1057C>G
 gnomAD v4
13g.113118646C>TCA485423959F7c.973C>T (p.Leu325=)
c.1039C>T (p.Leu347=)
c.787C>T (p.Leu263=)
n.1060C>T
c.832C>T (p.Leu278=)
c.1081C>T (p.Leu361=)
c.895C>T (p.Leu299=)
c.733C>T (p.Leu245=)
c.1042C>T (p.Leu348=)
c.877C>T (p.Leu293=)
c.1126C>T (p.Leu376=)
c.940C>T (p.Leu314=)
n.1057C>T
13g.113118647T>ACA388786229F7c.974T>A (p.Leu325Gln)
c.1040T>A (p.Leu347Gln)
c.788T>A (p.Leu263Gln)
n.1061T>A
c.833T>A (p.Leu278Gln)
c.1082T>A (p.Leu361Gln)
c.896T>A (p.Leu299Gln)
c.734T>A (p.Leu245Gln)
c.1043T>A (p.Leu348Gln)
c.878T>A (p.Leu293Gln)
c.1127T>A (p.Leu376Gln)
c.941T>A (p.Leu314Gln)
n.1058T>A
13g.113118647T>CCA388786230F7c.974T>C (p.Leu325Pro)
c.1040T>C (p.Leu347Pro)
c.788T>C (p.Leu263Pro)
n.1061T>C
c.833T>C (p.Leu278Pro)
c.1082T>C (p.Leu361Pro)
c.896T>C (p.Leu299Pro)
c.734T>C (p.Leu245Pro)
c.1043T>C (p.Leu348Pro)
c.878T>C (p.Leu293Pro)
c.1127T>C (p.Leu376Pro)
c.941T>C (p.Leu314Pro)
n.1058T>C
13g.113118647T>GCA388786231F7c.974T>G (p.Leu325Arg)
c.1040T>G (p.Leu347Arg)
c.788T>G (p.Leu263Arg)
n.1061T>G
c.833T>G (p.Leu278Arg)
c.1082T>G (p.Leu361Arg)
c.896T>G (p.Leu299Arg)
c.734T>G (p.Leu245Arg)
c.1043T>G (p.Leu348Arg)
c.878T>G (p.Leu293Arg)
c.1127T>G (p.Leu376Arg)
c.941T>G (p.Leu314Arg)
n.1058T>G
13g.113118648G>ACA485423960F7c.975G>A (p.Leu325=)
c.1041G>A (p.Leu347=)
c.789G>A (p.Leu263=)
n.1062G>A
c.834G>A (p.Leu278=)
c.1083G>A (p.Leu361=)
c.897G>A (p.Leu299=)
c.735G>A (p.Leu245=)
c.1044G>A (p.Leu348=)
c.879G>A (p.Leu293=)
c.1128G>A (p.Leu376=)
c.942G>A (p.Leu314=)
n.1059G>A
 gnomAD v4
13g.113118648G>CCA485423961F7c.975G>C (p.Leu325=)
c.1041G>C (p.Leu347=)
c.789G>C (p.Leu263=)
n.1062G>C
c.834G>C (p.Leu278=)
c.1083G>C (p.Leu361=)
c.897G>C (p.Leu299=)
c.735G>C (p.Leu245=)
c.1044G>C (p.Leu348=)
c.879G>C (p.Leu293=)
c.1128G>C (p.Leu376=)
c.942G>C (p.Leu314=)
n.1059G>C
13g.113118648G>TCA485423962F7c.975G>T (p.Leu325=)
c.1041G>T (p.Leu347=)
c.789G>T (p.Leu263=)
n.1062G>T
c.834G>T (p.Leu278=)
c.1083G>T (p.Leu361=)
c.897G>T (p.Leu299=)
c.735G>T (p.Leu245=)
c.1044G>T (p.Leu348=)
c.879G>T (p.Leu293=)
c.1128G>T (p.Leu376=)
c.942G>T (p.Leu314=)
n.1059G>T
13g.113118649C>ACA388786232F7c.976C>A (p.Leu326Met)
c.1042C>A (p.Leu348Met)
c.790C>A (p.Leu264Met)
n.1063C>A
c.835C>A (p.Leu279Met)
c.1084C>A (p.Leu362Met)
c.898C>A (p.Leu300Met)
c.736C>A (p.Leu246Met)
c.1045C>A (p.Leu349Met)
c.880C>A (p.Leu294Met)
c.1129C>A (p.Leu377Met)
c.943C>A (p.Leu315Met)
n.1060C>A
13g.113118649C>GCA388786233F7c.976C>G (p.Leu326Val)
c.1042C>G (p.Leu348Val)
c.790C>G (p.Leu264Val)
n.1063C>G
c.835C>G (p.Leu279Val)
c.1084C>G (p.Leu362Val)
c.898C>G (p.Leu300Val)
c.736C>G (p.Leu246Val)
c.1045C>G (p.Leu349Val)
c.880C>G (p.Leu294Val)
c.1129C>G (p.Leu377Val)
c.943C>G (p.Leu315Val)
n.1060C>G
13g.113118649C>TCA485423963F7c.976C>T (p.Leu326=)
c.1042C>T (p.Leu348=)
c.790C>T (p.Leu264=)
n.1063C>T
c.835C>T (p.Leu279=)
c.1084C>T (p.Leu362=)
c.898C>T (p.Leu300=)
c.736C>T (p.Leu246=)
c.1045C>T (p.Leu349=)
c.880C>T (p.Leu294=)
c.1129C>T (p.Leu377=)
c.943C>T (p.Leu315=)
n.1060C>T
13g.113118650T>ACA388786234F7c.977T>A (p.Leu326Gln)
c.1043T>A (p.Leu348Gln)
c.791T>A (p.Leu264Gln)
n.1064T>A
c.836T>A (p.Leu279Gln)
c.1085T>A (p.Leu362Gln)
c.899T>A (p.Leu300Gln)
c.737T>A (p.Leu246Gln)
c.1046T>A (p.Leu349Gln)
c.881T>A (p.Leu294Gln)
c.1130T>A (p.Leu377Gln)
c.944T>A (p.Leu315Gln)
n.1061T>A
13g.113118650T>CCA388786235F7c.977T>C (p.Leu326Pro)
c.1043T>C (p.Leu348Pro)
c.791T>C (p.Leu264Pro)
n.1064T>C
c.836T>C (p.Leu279Pro)
c.1085T>C (p.Leu362Pro)
c.899T>C (p.Leu300Pro)
c.737T>C (p.Leu246Pro)
c.1046T>C (p.Leu349Pro)
c.881T>C (p.Leu294Pro)
c.1130T>C (p.Leu377Pro)
c.944T>C (p.Leu315Pro)
n.1061T>C
 COSMIC COSMIC
13g.113118650T>GCA388786236F7c.977T>G (p.Leu326Arg)
c.1043T>G (p.Leu348Arg)
c.791T>G (p.Leu264Arg)
n.1064T>G
c.836T>G (p.Leu279Arg)
c.1085T>G (p.Leu362Arg)
c.899T>G (p.Leu300Arg)
c.737T>G (p.Leu246Arg)
c.1046T>G (p.Leu349Arg)
c.881T>G (p.Leu294Arg)
c.1130T>G (p.Leu377Arg)
c.944T>G (p.Leu315Arg)
n.1061T>G
13g.113118651G>ACA7060201F7c.978G>A (p.Leu326=)
c.1044G>A (p.Leu348=)
c.792G>A (p.Leu264=)
n.1065G>A
c.837G>A (p.Leu279=)
c.1086G>A (p.Leu362=)
c.900G>A (p.Leu300=)
c.738G>A (p.Leu246=)
c.1047G>A (p.Leu349=)
c.882G>A (p.Leu294=)
c.1131G>A (p.Leu377=)
c.945G>A (p.Leu315=)
n.1062G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118651G>CCA485423964F7c.978G>C (p.Leu326=)
c.1044G>C (p.Leu348=)
c.792G>C (p.Leu264=)
n.1065G>C
c.837G>C (p.Leu279=)
c.1086G>C (p.Leu362=)
c.900G>C (p.Leu300=)
c.738G>C (p.Leu246=)
c.1047G>C (p.Leu349=)
c.882G>C (p.Leu294=)
c.1131G>C (p.Leu377=)
c.945G>C (p.Leu315=)
n.1062G>C
13g.113118651G=CA2120142264F7c.978G= (p.Leu326=)
c.1044G= (p.Leu348=)
c.792G= (p.Leu264=)
n.1065G=
c.837G= (p.Leu279=)
c.1086G= (p.Leu362=)
c.900G= (p.Leu300=)
c.738G= (p.Leu246=)
c.1047G= (p.Leu349=)
c.882G= (p.Leu294=)
c.1131G= (p.Leu377=)
c.945G= (p.Leu315=)
n.1062G=
13g.113118651G>TCA485423965F7c.978G>T (p.Leu326=)
c.1044G>T (p.Leu348=)
c.792G>T (p.Leu264=)
n.1065G>T
c.837G>T (p.Leu279=)
c.1086G>T (p.Leu362=)
c.900G>T (p.Leu300=)
c.738G>T (p.Leu246=)
c.1047G>T (p.Leu349=)
c.882G>T (p.Leu294=)
c.1131G>T (p.Leu377=)
c.945G>T (p.Leu315=)
n.1062G>T
13g.113118652G>ACA7060202F7c.979G>A (p.Asp327Asn)
c.1045G>A (p.Asp349Asn)
c.793G>A (p.Asp265Asn)
n.1066G>A
c.838G>A (p.Asp280Asn)
c.1087G>A (p.Asp363Asn)
c.901G>A (p.Asp301Asn)
c.739G>A (p.Asp247Asn)
c.1048G>A (p.Asp350Asn)
c.883G>A (p.Asp295Asn)
c.1132G>A (p.Asp378Asn)
c.946G>A (p.Asp316Asn)
n.1063G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118652G>CCA388786238F7c.979G>C (p.Asp327His)
c.1045G>C (p.Asp349His)
c.793G>C (p.Asp265His)
n.1066G>C
c.838G>C (p.Asp280His)
c.1087G>C (p.Asp363His)
c.901G>C (p.Asp301His)
c.739G>C (p.Asp247His)
c.1048G>C (p.Asp350His)
c.883G>C (p.Asp295His)
c.1132G>C (p.Asp378His)
c.946G>C (p.Asp316His)
n.1063G>C
 gnomAD v4
13g.113118652G=CA2120142269F7c.979G= (p.Asp327=)
c.1045G= (p.Asp349=)
c.793G= (p.Asp265=)
n.1066G=
c.838G= (p.Asp280=)
c.1087G= (p.Asp363=)
c.901G= (p.Asp301=)
c.739G= (p.Asp247=)
c.1048G= (p.Asp350=)
c.883G= (p.Asp295=)
c.1132G= (p.Asp378=)
c.946G= (p.Asp316=)
n.1063G=
13g.113118652G>TCA388786237F7c.979G>T (p.Asp327Tyr)
c.1045G>T (p.Asp349Tyr)
c.793G>T (p.Asp265Tyr)
n.1066G>T
c.838G>T (p.Asp280Tyr)
c.1087G>T (p.Asp363Tyr)
c.901G>T (p.Asp301Tyr)
c.739G>T (p.Asp247Tyr)
c.1048G>T (p.Asp350Tyr)
c.883G>T (p.Asp295Tyr)
c.1132G>T (p.Asp378Tyr)
c.946G>T (p.Asp316Tyr)
n.1063G>T
 gnomAD v4
13g.113118653A>CCA388786239F7c.980A>C (p.Asp327Ala)
c.1046A>C (p.Asp349Ala)
c.794A>C (p.Asp265Ala)
n.1067A>C
c.839A>C (p.Asp280Ala)
c.1088A>C (p.Asp363Ala)
c.902A>C (p.Asp301Ala)
c.740A>C (p.Asp247Ala)
c.1049A>C (p.Asp350Ala)
c.884A>C (p.Asp295Ala)
c.1133A>C (p.Asp378Ala)
c.947A>C (p.Asp316Ala)
n.1064A>C
 gnomAD v4
13g.113118653A>GCA388786240F7c.980A>G (p.Asp327Gly)
c.1046A>G (p.Asp349Gly)
c.794A>G (p.Asp265Gly)
n.1067A>G
c.839A>G (p.Asp280Gly)
c.1088A>G (p.Asp363Gly)
c.902A>G (p.Asp301Gly)
c.740A>G (p.Asp247Gly)
c.1049A>G (p.Asp350Gly)
c.884A>G (p.Asp295Gly)
c.1133A>G (p.Asp378Gly)
c.947A>G (p.Asp316Gly)
n.1064A>G
 gnomAD v4
13g.113118653A>TCA388786241F7c.980A>T (p.Asp327Val)
c.1046A>T (p.Asp349Val)
c.794A>T (p.Asp265Val)
n.1067A>T
c.839A>T (p.Asp280Val)
c.1088A>T (p.Asp363Val)
c.902A>T (p.Asp301Val)
c.740A>T (p.Asp247Val)
c.1049A>T (p.Asp350Val)
c.884A>T (p.Asp295Val)
c.1133A>T (p.Asp378Val)
c.947A>T (p.Asp316Val)
n.1064A>T
13g.113118654C>ACA388786242F7c.981C>A (p.Asp327Glu)
c.1047C>A (p.Asp349Glu)
c.795C>A (p.Asp265Glu)
n.1068C>A
c.840C>A (p.Asp280Glu)
c.1089C>A (p.Asp363Glu)
c.903C>A (p.Asp301Glu)
c.741C>A (p.Asp247Glu)
c.1050C>A (p.Asp350Glu)
c.885C>A (p.Asp295Glu)
c.1134C>A (p.Asp378Glu)
c.948C>A (p.Asp316Glu)
n.1065C>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118654C=CA2120142273F7c.981C= (p.Asp327=)
c.1047C= (p.Asp349=)
c.795C= (p.Asp265=)
n.1068C=
c.840C= (p.Asp280=)
c.1089C= (p.Asp363=)
c.903C= (p.Asp301=)
c.741C= (p.Asp247=)
c.1050C= (p.Asp350=)
c.885C= (p.Asp295=)
c.1134C= (p.Asp378=)
c.948C= (p.Asp316=)
n.1065C=
13g.113118654C>GCA388786243F7c.981C>G (p.Asp327Glu)
c.1047C>G (p.Asp349Glu)
c.795C>G (p.Asp265Glu)
n.1068C>G
c.840C>G (p.Asp280Glu)
c.1089C>G (p.Asp363Glu)
c.903C>G (p.Asp301Glu)
c.741C>G (p.Asp247Glu)
c.1050C>G (p.Asp350Glu)
c.885C>G (p.Asp295Glu)
c.1134C>G (p.Asp378Glu)
c.948C>G (p.Asp316Glu)
n.1065C>G
13g.113118654C>TCA7060203F7c.981C>T (p.Asp327=)
c.1047C>T (p.Asp349=)
c.795C>T (p.Asp265=)
n.1068C>T
c.840C>T (p.Asp280=)
c.1089C>T (p.Asp363=)
c.903C>T (p.Asp301=)
c.741C>T (p.Asp247=)
c.1050C>T (p.Asp350=)
c.885C>T (p.Asp295=)
c.1134C>T (p.Asp378=)
c.948C>T (p.Asp316=)
n.1065C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118655delCA2695218972F7c.982del (p.Arg328ValfsTer16)
c.1048del (p.Arg350ValfsTer16)
c.796del (p.Arg266ValfsTer16)
n.1069del
c.841del (p.Arg281ValfsTer16)
c.1090del (p.Arg364ValfsTer16)
c.904del (p.Arg302ValfsTer16)
c.742del (p.Arg248ValfsTer16)
c.1051del (p.Arg351ValfsTer16)
c.886del (p.Arg296ValfsTer16)
c.1135del (p.Arg379ValfsTer16)
c.949del (p.Arg317ValfsTer16)
n.1066del
13g.113118655C>ACA388786244F7c.982C>A (p.Arg328Ser)
c.1048C>A (p.Arg350Ser)
c.796C>A (p.Arg266Ser)
n.1069C>A
c.841C>A (p.Arg281Ser)
c.1090C>A (p.Arg364Ser)
c.904C>A (p.Arg302Ser)
c.742C>A (p.Arg248Ser)
c.1051C>A (p.Arg351Ser)
c.886C>A (p.Arg296Ser)
c.1135C>A (p.Arg379Ser)
c.949C>A (p.Arg317Ser)
n.1066C>A
 dbSNP
13g.113118655C=CA2120142285F7c.982C= (p.Arg328=)
c.1048C= (p.Arg350=)
c.796C= (p.Arg266=)
n.1069C=
c.841C= (p.Arg281=)
c.1090C= (p.Arg364=)
c.904C= (p.Arg302=)
c.742C= (p.Arg248=)
c.1051C= (p.Arg351=)
c.886C= (p.Arg296=)
c.1135C= (p.Arg379=)
c.949C= (p.Arg317=)
n.1066C=
13g.113118655C>GCA388786245F7c.982C>G (p.Arg328Gly)
c.1048C>G (p.Arg350Gly)
c.796C>G (p.Arg266Gly)
n.1069C>G
c.841C>G (p.Arg281Gly)
c.1090C>G (p.Arg364Gly)
c.904C>G (p.Arg302Gly)
c.742C>G (p.Arg248Gly)
c.1051C>G (p.Arg351Gly)
c.886C>G (p.Arg296Gly)
c.1135C>G (p.Arg379Gly)
c.949C>G (p.Arg317Gly)
n.1066C>G
13g.113118655C>TCA7060204F7c.982C>T (p.Arg328Cys)
c.1048C>T (p.Arg350Cys)
c.796C>T (p.Arg266Cys)
n.1069C>T
c.841C>T (p.Arg281Cys)
c.1090C>T (p.Arg364Cys)
c.904C>T (p.Arg302Cys)
c.742C>T (p.Arg248Cys)
c.1051C>T (p.Arg351Cys)
c.886C>T (p.Arg296Cys)
c.1135C>T (p.Arg379Cys)
c.949C>T (p.Arg317Cys)
n.1066C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118656G>ACA7060205F7c.983G>A (p.Arg328His)
c.1049G>A (p.Arg350His)
c.797G>A (p.Arg266His)
n.1070G>A
c.842G>A (p.Arg281His)
c.1091G>A (p.Arg364His)
c.905G>A (p.Arg302His)
c.743G>A (p.Arg248His)
c.1052G>A (p.Arg351His)
c.887G>A (p.Arg296His)
c.1136G>A (p.Arg379His)
c.950G>A (p.Arg317His)
n.1067G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118656G>CCA388786246F7c.983G>C (p.Arg328Pro)
c.1049G>C (p.Arg350Pro)
c.797G>C (p.Arg266Pro)
n.1070G>C
c.842G>C (p.Arg281Pro)
c.1091G>C (p.Arg364Pro)
c.905G>C (p.Arg302Pro)
c.743G>C (p.Arg248Pro)
c.1052G>C (p.Arg351Pro)
c.887G>C (p.Arg296Pro)
c.1136G>C (p.Arg379Pro)
c.950G>C (p.Arg317Pro)
n.1067G>C
13g.113118656G=CA2120142296F7c.983G= (p.Arg328=)
c.1049G= (p.Arg350=)
c.797G= (p.Arg266=)
n.1070G=
c.842G= (p.Arg281=)
c.1091G= (p.Arg364=)
c.905G= (p.Arg302=)
c.743G= (p.Arg248=)
c.1052G= (p.Arg351=)
c.887G= (p.Arg296=)
c.1136G= (p.Arg379=)
c.950G= (p.Arg317=)
n.1067G=
13g.113118656G>TCA388786247F7c.983G>T (p.Arg328Leu)
c.1049G>T (p.Arg350Leu)
c.797G>T (p.Arg266Leu)
n.1070G>T
c.842G>T (p.Arg281Leu)
c.1091G>T (p.Arg364Leu)
c.905G>T (p.Arg302Leu)
c.743G>T (p.Arg248Leu)
c.1052G>T (p.Arg351Leu)
c.887G>T (p.Arg296Leu)
c.1136G>T (p.Arg379Leu)
c.950G>T (p.Arg317Leu)
n.1067G>T
13g.113118657T>ACA485423968F7c.984T>A (p.Arg328=)
c.1050T>A (p.Arg350=)
c.798T>A (p.Arg266=)
n.1071T>A
c.843T>A (p.Arg281=)
c.1092T>A (p.Arg364=)
c.906T>A (p.Arg302=)
c.744T>A (p.Arg248=)
c.1053T>A (p.Arg351=)
c.888T>A (p.Arg296=)
c.1137T>A (p.Arg379=)
c.951T>A (p.Arg317=)
n.1068T>A
13g.113118657T>CCA485423967F7c.984T>C (p.Arg328=)
c.1050T>C (p.Arg350=)
c.798T>C (p.Arg266=)
n.1071T>C
c.843T>C (p.Arg281=)
c.1092T>C (p.Arg364=)
c.906T>C (p.Arg302=)
c.744T>C (p.Arg248=)
c.1053T>C (p.Arg351=)
c.888T>C (p.Arg296=)
c.1137T>C (p.Arg379=)
c.951T>C (p.Arg317=)
n.1068T>C
13g.113118657T>GCA485423966F7c.984T>G (p.Arg328=)
c.1050T>G (p.Arg350=)
c.798T>G (p.Arg266=)
n.1071T>G
c.843T>G (p.Arg281=)
c.1092T>G (p.Arg364=)
c.906T>G (p.Arg302=)
c.744T>G (p.Arg248=)
c.1053T>G (p.Arg351=)
c.888T>G (p.Arg296=)
c.1137T>G (p.Arg379=)
c.951T>G (p.Arg317=)
n.1068T>G
 dbSNP
13g.113118657T=CA2120142305F7c.984T= (p.Arg328=)
c.1050T= (p.Arg350=)
c.798T= (p.Arg266=)
n.1071T=
c.843T= (p.Arg281=)
c.1092T= (p.Arg364=)
c.906T= (p.Arg302=)
c.744T= (p.Arg248=)
c.1053T= (p.Arg351=)
c.888T= (p.Arg296=)
c.1137T= (p.Arg379=)
c.951T= (p.Arg317=)
n.1068T=
13g.113118658G>ACA388786250F7c.985G>A (p.Gly329Ser)
c.1051G>A (p.Gly351Ser)
c.799G>A (p.Gly267Ser)
n.1072G>A
c.844G>A (p.Gly282Ser)
c.1093G>A (p.Gly365Ser)
c.907G>A (p.Gly303Ser)
c.745G>A (p.Gly249Ser)
c.1054G>A (p.Gly352Ser)
c.889G>A (p.Gly297Ser)
c.1138G>A (p.Gly380Ser)
c.952G>A (p.Gly318Ser)
n.1069G>A
 gnomAD v4
13g.113118658G>CCA388786248F7c.985G>C (p.Gly329Arg)
c.1051G>C (p.Gly351Arg)
c.799G>C (p.Gly267Arg)
n.1072G>C
c.844G>C (p.Gly282Arg)
c.1093G>C (p.Gly365Arg)
c.907G>C (p.Gly303Arg)
c.745G>C (p.Gly249Arg)
c.1054G>C (p.Gly352Arg)
c.889G>C (p.Gly297Arg)
c.1138G>C (p.Gly380Arg)
c.952G>C (p.Gly318Arg)
n.1069G>C
13g.113118658G>TCA388786249F7c.985G>T (p.Gly329Cys)
c.1051G>T (p.Gly351Cys)
c.799G>T (p.Gly267Cys)
n.1072G>T
c.844G>T (p.Gly282Cys)
c.1093G>T (p.Gly365Cys)
c.907G>T (p.Gly303Cys)
c.745G>T (p.Gly249Cys)
c.1054G>T (p.Gly352Cys)
c.889G>T (p.Gly297Cys)
c.1138G>T (p.Gly380Cys)
c.952G>T (p.Gly318Cys)
n.1069G>T
 gnomAD v4
13g.113118659G>ACA388786251F7c.986G>A (p.Gly329Asp)
c.1052G>A (p.Gly351Asp)
c.800G>A (p.Gly267Asp)
n.1073G>A
c.845G>A (p.Gly282Asp)
c.1094G>A (p.Gly365Asp)
c.908G>A (p.Gly303Asp)
c.746G>A (p.Gly249Asp)
c.1055G>A (p.Gly352Asp)
c.890G>A (p.Gly297Asp)
c.1139G>A (p.Gly380Asp)
c.953G>A (p.Gly318Asp)
n.1070G>A
13g.113118659G>CCA388786252F7c.986G>C (p.Gly329Ala)
c.1052G>C (p.Gly351Ala)
c.800G>C (p.Gly267Ala)
n.1073G>C
c.845G>C (p.Gly282Ala)
c.1094G>C (p.Gly365Ala)
c.908G>C (p.Gly303Ala)
c.746G>C (p.Gly249Ala)
c.1055G>C (p.Gly352Ala)
c.890G>C (p.Gly297Ala)
c.1139G>C (p.Gly380Ala)
c.953G>C (p.Gly318Ala)
n.1070G>C
13g.113118659G>TCA388786253F7c.986G>T (p.Gly329Val)
c.1052G>T (p.Gly351Val)
c.800G>T (p.Gly267Val)
n.1073G>T
c.845G>T (p.Gly282Val)
c.1094G>T (p.Gly365Val)
c.908G>T (p.Gly303Val)
c.746G>T (p.Gly249Val)
c.1055G>T (p.Gly352Val)
c.890G>T (p.Gly297Val)
c.1139G>T (p.Gly380Val)
c.953G>T (p.Gly318Val)
n.1070G>T
13g.113118660C>ACA485423969F7c.987C>A (p.Gly329=)
c.1053C>A (p.Gly351=)
c.801C>A (p.Gly267=)
n.1074C>A
c.846C>A (p.Gly282=)
c.1095C>A (p.Gly365=)
c.909C>A (p.Gly303=)
c.747C>A (p.Gly249=)
c.1056C>A (p.Gly352=)
c.891C>A (p.Gly297=)
c.1140C>A (p.Gly380=)
c.954C>A (p.Gly318=)
n.1071C>A
13g.113118660C=CA2120142312F7c.987C= (p.Gly329=)
c.1053C= (p.Gly351=)
c.801C= (p.Gly267=)
n.1074C=
c.846C= (p.Gly282=)
c.1095C= (p.Gly365=)
c.909C= (p.Gly303=)
c.747C= (p.Gly249=)
c.1056C= (p.Gly352=)
c.891C= (p.Gly297=)
c.1140C= (p.Gly380=)
c.954C= (p.Gly318=)
n.1071C=
13g.113118660C>GCA485423970F7c.987C>G (p.Gly329=)
c.1053C>G (p.Gly351=)
c.801C>G (p.Gly267=)
n.1074C>G
c.846C>G (p.Gly282=)
c.1095C>G (p.Gly365=)
c.909C>G (p.Gly303=)
c.747C>G (p.Gly249=)
c.1056C>G (p.Gly352=)
c.891C>G (p.Gly297=)
c.1140C>G (p.Gly380=)
c.954C>G (p.Gly318=)
n.1071C>G
13g.113118660C>TCA7060206F7c.987C>T (p.Gly329=)
c.1053C>T (p.Gly351=)
c.801C>T (p.Gly267=)
n.1074C>T
c.846C>T (p.Gly282=)
c.1095C>T (p.Gly365=)
c.909C>T (p.Gly303=)
c.747C>T (p.Gly249=)
c.1056C>T (p.Gly352=)
c.891C>T (p.Gly297=)
c.1140C>T (p.Gly380=)
c.954C>T (p.Gly318=)
n.1071C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118661G>ACA7060207F7c.988G>A (p.Ala330Thr)
c.1054G>A (p.Ala352Thr)
c.802G>A (p.Ala268Thr)
n.1075G>A
c.847G>A (p.Ala283Thr)
c.1096G>A (p.Ala366Thr)
c.910G>A (p.Ala304Thr)
c.748G>A (p.Ala250Thr)
c.1057G>A (p.Ala353Thr)
c.892G>A (p.Ala298Thr)
c.1141G>A (p.Ala381Thr)
c.955G>A (p.Ala319Thr)
n.1072G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118661G>CCA388786254F7c.988G>C (p.Ala330Pro)
c.1054G>C (p.Ala352Pro)
c.802G>C (p.Ala268Pro)
n.1075G>C
c.847G>C (p.Ala283Pro)
c.1096G>C (p.Ala366Pro)
c.910G>C (p.Ala304Pro)
c.748G>C (p.Ala250Pro)
c.1057G>C (p.Ala353Pro)
c.892G>C (p.Ala298Pro)
c.1141G>C (p.Ala381Pro)
c.955G>C (p.Ala319Pro)
n.1072G>C
 dbSNP
13g.113118661G=CA2018068580F7c.988G= (p.Ala330=)
c.1054G= (p.Ala352=)
c.802G= (p.Ala268=)
n.1075G=
c.847G= (p.Ala283=)
c.1096G= (p.Ala366=)
c.910G= (p.Ala304=)
c.748G= (p.Ala250=)
c.1057G= (p.Ala353=)
c.892G= (p.Ala298=)
c.1141G= (p.Ala381=)
c.955G= (p.Ala319=)
n.1072G=
13g.113118661G>TCA256461692F7c.988G>T (p.Ala330Ser)
c.1054G>T (p.Ala352Ser)
c.802G>T (p.Ala268Ser)
n.1075G>T
c.847G>T (p.Ala283Ser)
c.1096G>T (p.Ala366Ser)
c.910G>T (p.Ala304Ser)
c.748G>T (p.Ala250Ser)
c.1057G>T (p.Ala353Ser)
c.892G>T (p.Ala298Ser)
c.1141G>T (p.Ala381Ser)
c.955G>T (p.Ala319Ser)
n.1072G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118662C>ACA388786255F7c.989C>A (p.Ala330Asp)
c.1055C>A (p.Ala352Asp)
c.803C>A (p.Ala268Asp)
n.1076C>A
c.848C>A (p.Ala283Asp)
c.1097C>A (p.Ala366Asp)
c.911C>A (p.Ala304Asp)
c.749C>A (p.Ala250Asp)
c.1058C>A (p.Ala353Asp)
c.893C>A (p.Ala298Asp)
c.1142C>A (p.Ala381Asp)
c.956C>A (p.Ala319Asp)
n.1073C>A
13g.113118662C=CA2120142334F7c.989C= (p.Ala330=)
c.1055C= (p.Ala352=)
c.803C= (p.Ala268=)
n.1076C=
c.848C= (p.Ala283=)
c.1097C= (p.Ala366=)
c.911C= (p.Ala304=)
c.749C= (p.Ala250=)
c.1058C= (p.Ala353=)
c.893C= (p.Ala298=)
c.1142C= (p.Ala381=)
c.956C= (p.Ala319=)
n.1073C=
13g.113118662C>GCA388786256F7c.989C>G (p.Ala330Gly)
c.1055C>G (p.Ala352Gly)
c.803C>G (p.Ala268Gly)
n.1076C>G
c.848C>G (p.Ala283Gly)
c.1097C>G (p.Ala366Gly)
c.911C>G (p.Ala304Gly)
c.749C>G (p.Ala250Gly)
c.1058C>G (p.Ala353Gly)
c.893C>G (p.Ala298Gly)
c.1142C>G (p.Ala381Gly)
c.956C>G (p.Ala319Gly)
n.1073C>G
13g.113118662C>TCA388786257F7c.989C>T (p.Ala330Val)
c.1055C>T (p.Ala352Val)
c.803C>T (p.Ala268Val)
n.1076C>T
c.848C>T (p.Ala283Val)
c.1097C>T (p.Ala366Val)
c.911C>T (p.Ala304Val)
c.749C>T (p.Ala250Val)
c.1058C>T (p.Ala353Val)
c.893C>T (p.Ala298Val)
c.1142C>T (p.Ala381Val)
c.956C>T (p.Ala319Val)
n.1073C>T
 dbSNP
13g.113118663C>ACA485423971F7c.990C>A (p.Ala330=)
c.1056C>A (p.Ala352=)
c.804C>A (p.Ala268=)
n.1077C>A
c.849C>A (p.Ala283=)
c.1098C>A (p.Ala366=)
c.912C>A (p.Ala304=)
c.750C>A (p.Ala250=)
c.1059C>A (p.Ala353=)
c.894C>A (p.Ala298=)
c.1143C>A (p.Ala381=)
c.957C>A (p.Ala319=)
n.1074C>A
13g.113118663C=CA2120142340F7c.990C= (p.Ala330=)
c.1056C= (p.Ala352=)
c.804C= (p.Ala268=)
n.1077C=
c.849C= (p.Ala283=)
c.1098C= (p.Ala366=)
c.912C= (p.Ala304=)
c.750C= (p.Ala250=)
c.1059C= (p.Ala353=)
c.894C= (p.Ala298=)
c.1143C= (p.Ala381=)
c.957C= (p.Ala319=)
n.1074C=
13g.113118663C>GCA485423972F7c.990C>G (p.Ala330=)
c.1056C>G (p.Ala352=)
c.804C>G (p.Ala268=)
n.1077C>G
c.849C>G (p.Ala283=)
c.1098C>G (p.Ala366=)
c.912C>G (p.Ala304=)
c.750C>G (p.Ala250=)
c.1059C>G (p.Ala353=)
c.894C>G (p.Ala298=)
c.1143C>G (p.Ala381=)
c.957C>G (p.Ala319=)
n.1074C>G
13g.113118663C>TCA7060208F7c.990C>T (p.Ala330=)
c.1056C>T (p.Ala352=)
c.804C>T (p.Ala268=)
n.1077C>T
c.849C>T (p.Ala283=)
c.1098C>T (p.Ala366=)
c.912C>T (p.Ala304=)
c.750C>T (p.Ala250=)
c.1059C>T (p.Ala353=)
c.894C>T (p.Ala298=)
c.1143C>T (p.Ala381=)
c.957C>T (p.Ala319=)
n.1074C>T
 dbSNP ExAC gnomAD v2
13g.113118664A=CA2120142347F7c.991A= (p.Thr331=)
c.1057A= (p.Thr353=)
c.805A= (p.Thr269=)
n.1078A=
c.850A= (p.Thr284=)
c.1099A= (p.Thr367=)
c.913A= (p.Thr305=)
c.751A= (p.Thr251=)
c.1060A= (p.Thr354=)
c.895A= (p.Thr299=)
c.1144A= (p.Thr382=)
c.958A= (p.Thr320=)
n.1075A=
13g.113118664A>CCA7060209F7c.991A>C (p.Thr331Pro)
c.1057A>C (p.Thr353Pro)
c.805A>C (p.Thr269Pro)
n.1078A>C
c.850A>C (p.Thr284Pro)
c.1099A>C (p.Thr367Pro)
c.913A>C (p.Thr305Pro)
c.751A>C (p.Thr251Pro)
c.1060A>C (p.Thr354Pro)
c.895A>C (p.Thr299Pro)
c.1144A>C (p.Thr382Pro)
c.958A>C (p.Thr320Pro)
n.1075A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118664A>GCA388786259F7c.991A>G (p.Thr331Ala)
c.1057A>G (p.Thr353Ala)
c.805A>G (p.Thr269Ala)
n.1078A>G
c.850A>G (p.Thr284Ala)
c.1099A>G (p.Thr367Ala)
c.913A>G (p.Thr305Ala)
c.751A>G (p.Thr251Ala)
c.1060A>G (p.Thr354Ala)
c.895A>G (p.Thr299Ala)
c.1144A>G (p.Thr382Ala)
c.958A>G (p.Thr320Ala)
n.1075A>G
13g.113118664A>TCA388786258F7c.991A>T (p.Thr331Ser)
c.1057A>T (p.Thr353Ser)
c.805A>T (p.Thr269Ser)
n.1078A>T
c.850A>T (p.Thr284Ser)
c.1099A>T (p.Thr367Ser)
c.913A>T (p.Thr305Ser)
c.751A>T (p.Thr251Ser)
c.1060A>T (p.Thr354Ser)
c.895A>T (p.Thr299Ser)
c.1144A>T (p.Thr382Ser)
c.958A>T (p.Thr320Ser)
n.1075A>T
13g.113118665C>ACA388786260F7c.992C>A (p.Thr331Lys)
c.1058C>A (p.Thr353Lys)
c.806C>A (p.Thr269Lys)
n.1079C>A
c.851C>A (p.Thr284Lys)
c.1100C>A (p.Thr367Lys)
c.914C>A (p.Thr305Lys)
c.752C>A (p.Thr251Lys)
c.1061C>A (p.Thr354Lys)
c.896C>A (p.Thr299Lys)
c.1145C>A (p.Thr382Lys)
c.959C>A (p.Thr320Lys)
n.1076C>A
 dbSNP gnomAD v4
13g.113118665C=CA2120142352F7c.992C= (p.Thr331=)
c.1058C= (p.Thr353=)
c.806C= (p.Thr269=)
n.1079C=
c.851C= (p.Thr284=)
c.1100C= (p.Thr367=)
c.914C= (p.Thr305=)
c.752C= (p.Thr251=)
c.1061C= (p.Thr354=)
c.896C= (p.Thr299=)
c.1145C= (p.Thr382=)
c.959C= (p.Thr320=)
n.1076C=
13g.113118665C>GCA388786261F7c.992C>G (p.Thr331Arg)
c.1058C>G (p.Thr353Arg)
c.806C>G (p.Thr269Arg)
n.1079C>G
c.851C>G (p.Thr284Arg)
c.1100C>G (p.Thr367Arg)
c.914C>G (p.Thr305Arg)
c.752C>G (p.Thr251Arg)
c.1061C>G (p.Thr354Arg)
c.896C>G (p.Thr299Arg)
c.1145C>G (p.Thr382Arg)
c.959C>G (p.Thr320Arg)
n.1076C>G
13g.113118665C>TCA7060210F7c.992C>T (p.Thr331Met)
c.1058C>T (p.Thr353Met)
c.806C>T (p.Thr269Met)
n.1079C>T
c.851C>T (p.Thr284Met)
c.1100C>T (p.Thr367Met)
c.914C>T (p.Thr305Met)
c.752C>T (p.Thr251Met)
c.1061C>T (p.Thr354Met)
c.896C>T (p.Thr299Met)
c.1145C>T (p.Thr382Met)
c.959C>T (p.Thr320Met)
n.1076C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118666G>ACA7060211F7c.993G>A (p.Thr331=)
c.1059G>A (p.Thr353=)
c.807G>A (p.Thr269=)
n.1080G>A
c.852G>A (p.Thr284=)
c.1101G>A (p.Thr367=)
c.915G>A (p.Thr305=)
c.753G>A (p.Thr251=)
c.1062G>A (p.Thr354=)
c.897G>A (p.Thr299=)
c.1146G>A (p.Thr382=)
c.960G>A (p.Thr320=)
n.1077G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118666G>CCA485423973F7c.993G>C (p.Thr331=)
c.1059G>C (p.Thr353=)
c.807G>C (p.Thr269=)
n.1080G>C
c.852G>C (p.Thr284=)
c.1101G>C (p.Thr367=)
c.915G>C (p.Thr305=)
c.753G>C (p.Thr251=)
c.1062G>C (p.Thr354=)
c.897G>C (p.Thr299=)
c.1146G>C (p.Thr382=)
c.960G>C (p.Thr320=)
n.1077G>C
13g.113118666G=CA2120142356F7c.993G= (p.Thr331=)
c.1059G= (p.Thr353=)
c.807G= (p.Thr269=)
n.1080G=
c.852G= (p.Thr284=)
c.1101G= (p.Thr367=)
c.915G= (p.Thr305=)
c.753G= (p.Thr251=)
c.1062G= (p.Thr354=)
c.897G= (p.Thr299=)
c.1146G= (p.Thr382=)
c.960G= (p.Thr320=)
n.1077G=
13g.113118666G>TCA485423974F7c.993G>T (p.Thr331=)
c.1059G>T (p.Thr353=)
c.807G>T (p.Thr269=)
n.1080G>T
c.852G>T (p.Thr284=)
c.1101G>T (p.Thr367=)
c.915G>T (p.Thr305=)
c.753G>T (p.Thr251=)
c.1062G>T (p.Thr354=)
c.897G>T (p.Thr299=)
c.1146G>T (p.Thr382=)
c.960G>T (p.Thr320=)
n.1077G>T
13g.113118667G>ACA388786263F7c.994G>A (p.Ala332Thr)
c.1060G>A (p.Ala354Thr)
c.808G>A (p.Ala270Thr)
n.1081G>A
c.853G>A (p.Ala285Thr)
c.1102G>A (p.Ala368Thr)
c.916G>A (p.Ala306Thr)
c.754G>A (p.Ala252Thr)
c.1063G>A (p.Ala355Thr)
c.898G>A (p.Ala300Thr)
c.1147G>A (p.Ala383Thr)
c.961G>A (p.Ala321Thr)
n.1078G>A
13g.113118667G>CCA388786262F7c.994G>C (p.Ala332Pro)
c.1060G>C (p.Ala354Pro)
c.808G>C (p.Ala270Pro)
n.1081G>C
c.853G>C (p.Ala285Pro)
c.1102G>C (p.Ala368Pro)
c.916G>C (p.Ala306Pro)
c.754G>C (p.Ala252Pro)
c.1063G>C (p.Ala355Pro)
c.898G>C (p.Ala300Pro)
c.1147G>C (p.Ala383Pro)
c.961G>C (p.Ala321Pro)
n.1078G>C
13g.113118667G=CA2120142362F7c.994G= (p.Ala332=)
c.1060G= (p.Ala354=)
c.808G= (p.Ala270=)
n.1081G=
c.853G= (p.Ala285=)
c.1102G= (p.Ala368=)
c.916G= (p.Ala306=)
c.754G= (p.Ala252=)
c.1063G= (p.Ala355=)
c.898G= (p.Ala300=)
c.1147G= (p.Ala383=)
c.961G= (p.Ala321=)
n.1078G=
13g.113118667G>TCA7060212F7c.994G>T (p.Ala332Ser)
c.1060G>T (p.Ala354Ser)
c.808G>T (p.Ala270Ser)
n.1081G>T
c.853G>T (p.Ala285Ser)
c.1102G>T (p.Ala368Ser)
c.916G>T (p.Ala306Ser)
c.754G>T (p.Ala252Ser)
c.1063G>T (p.Ala355Ser)
c.898G>T (p.Ala300Ser)
c.1147G>T (p.Ala383Ser)
c.961G>T (p.Ala321Ser)
n.1078G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118668C>ACA388786264F7c.995C>A (p.Ala332Asp)
c.1061C>A (p.Ala354Asp)
c.809C>A (p.Ala270Asp)
n.1082C>A
c.854C>A (p.Ala285Asp)
c.1103C>A (p.Ala368Asp)
c.917C>A (p.Ala306Asp)
c.755C>A (p.Ala252Asp)
c.1064C>A (p.Ala355Asp)
c.899C>A (p.Ala300Asp)
c.1148C>A (p.Ala383Asp)
c.962C>A (p.Ala321Asp)
n.1079C>A
13g.113118668C=CA2120142367F7c.995C= (p.Ala332=)
c.1061C= (p.Ala354=)
c.809C= (p.Ala270=)
n.1082C=
c.854C= (p.Ala285=)
c.1103C= (p.Ala368=)
c.917C= (p.Ala306=)
c.755C= (p.Ala252=)
c.1064C= (p.Ala355=)
c.899C= (p.Ala300=)
c.1148C= (p.Ala383=)
c.962C= (p.Ala321=)
n.1079C=
13g.113118668C>GCA388786265F7c.995C>G (p.Ala332Gly)
c.1061C>G (p.Ala354Gly)
c.809C>G (p.Ala270Gly)
n.1082C>G
c.854C>G (p.Ala285Gly)
c.1103C>G (p.Ala368Gly)
c.917C>G (p.Ala306Gly)
c.755C>G (p.Ala252Gly)
c.1064C>G (p.Ala355Gly)
c.899C>G (p.Ala300Gly)
c.1148C>G (p.Ala383Gly)
c.962C>G (p.Ala321Gly)
n.1079C>G
13g.113118668C>TCA121850F7c.995C>T (p.Ala332Val)
c.1061C>T (p.Ala354Val)
c.809C>T (p.Ala270Val)
n.1082C>T
c.854C>T (p.Ala285Val)
c.1103C>T (p.Ala368Val)
c.917C>T (p.Ala306Val)
c.755C>T (p.Ala252Val)
c.1064C>T (p.Ala355Val)
c.899C>T (p.Ala300Val)
c.1148C>T (p.Ala383Val)
c.962C>T (p.Ala321Val)
n.1079C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118669C>ACA485423975F7c.996C>A (p.Ala332=)
c.1062C>A (p.Ala354=)
c.810C>A (p.Ala270=)
n.1083C>A
c.855C>A (p.Ala285=)
c.1104C>A (p.Ala368=)
c.918C>A (p.Ala306=)
c.756C>A (p.Ala252=)
c.1065C>A (p.Ala355=)
c.900C>A (p.Ala300=)
c.1149C>A (p.Ala383=)
c.963C>A (p.Ala321=)
n.1080C>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118669C=CA2120142375F7c.996C= (p.Ala332=)
c.1062C= (p.Ala354=)
c.810C= (p.Ala270=)
n.1083C=
c.855C= (p.Ala285=)
c.1104C= (p.Ala368=)
c.918C= (p.Ala306=)
c.756C= (p.Ala252=)
c.1065C= (p.Ala355=)
c.900C= (p.Ala300=)
c.1149C= (p.Ala383=)
c.963C= (p.Ala321=)
n.1080C=
13g.113118669C>GCA485423977F7c.996C>G (p.Ala332=)
c.1062C>G (p.Ala354=)
c.810C>G (p.Ala270=)
n.1083C>G
c.855C>G (p.Ala285=)
c.1104C>G (p.Ala368=)
c.918C>G (p.Ala306=)
c.756C>G (p.Ala252=)
c.1065C>G (p.Ala355=)
c.900C>G (p.Ala300=)
c.1149C>G (p.Ala383=)
c.963C>G (p.Ala321=)
n.1080C>G
13g.113118669C>TCA485423976F7c.996C>T (p.Ala332=)
c.1062C>T (p.Ala354=)
c.810C>T (p.Ala270=)
n.1083C>T
c.855C>T (p.Ala285=)
c.1104C>T (p.Ala368=)
c.918C>T (p.Ala306=)
c.756C>T (p.Ala252=)
c.1065C>T (p.Ala355=)
c.900C>T (p.Ala300=)
c.1149C>T (p.Ala383=)
c.963C>T (p.Ala321=)
n.1080C>T
 gnomAD v4
13g.113118670C>ACA388786266F7c.997C>A (p.Leu333Met)
c.1063C>A (p.Leu355Met)
c.811C>A (p.Leu271Met)
n.1084C>A
c.856C>A (p.Leu286Met)
c.1105C>A (p.Leu369Met)
c.919C>A (p.Leu307Met)
c.757C>A (p.Leu253Met)
c.1066C>A (p.Leu356Met)
c.901C>A (p.Leu301Met)
c.1150C>A (p.Leu384Met)
c.964C>A (p.Leu322Met)
n.1081C>A
13g.113118670C=CA2120142378F7c.997C= (p.Leu333=)
c.1063C= (p.Leu355=)
c.811C= (p.Leu271=)
n.1084C=
c.856C= (p.Leu286=)
c.1105C= (p.Leu369=)
c.919C= (p.Leu307=)
c.757C= (p.Leu253=)
c.1066C= (p.Leu356=)
c.901C= (p.Leu301=)
c.1150C= (p.Leu384=)
c.964C= (p.Leu322=)
n.1081C=
13g.113118670C>GCA388786267F7c.997C>G (p.Leu333Val)
c.1063C>G (p.Leu355Val)
c.811C>G (p.Leu271Val)
n.1084C>G
c.856C>G (p.Leu286Val)
c.1105C>G (p.Leu369Val)
c.919C>G (p.Leu307Val)
c.757C>G (p.Leu253Val)
c.1066C>G (p.Leu356Val)
c.901C>G (p.Leu301Val)
c.1150C>G (p.Leu384Val)
c.964C>G (p.Leu322Val)
n.1081C>G
 gnomAD v4
13g.113118670C>TCA485423978F7c.997C>T (p.Leu333=)
c.1063C>T (p.Leu355=)
c.811C>T (p.Leu271=)
n.1084C>T
c.856C>T (p.Leu286=)
c.1105C>T (p.Leu369=)
c.919C>T (p.Leu307=)
c.757C>T (p.Leu253=)
c.1066C>T (p.Leu356=)
c.901C>T (p.Leu301=)
c.1150C>T (p.Leu384=)
c.964C>T (p.Leu322=)
n.1081C>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118671T>ACA388786268F7c.998T>A (p.Leu333Gln)
c.1064T>A (p.Leu355Gln)
c.812T>A (p.Leu271Gln)
n.1085T>A
c.857T>A (p.Leu286Gln)
c.1106T>A (p.Leu369Gln)
c.920T>A (p.Leu307Gln)
c.758T>A (p.Leu253Gln)
c.1067T>A (p.Leu356Gln)
c.902T>A (p.Leu301Gln)
c.1151T>A (p.Leu384Gln)
c.965T>A (p.Leu322Gln)
n.1082T>A
13g.113118671T>CCA388786269F7c.998T>C (p.Leu333Pro)
c.1064T>C (p.Leu355Pro)
c.812T>C (p.Leu271Pro)
n.1085T>C
c.857T>C (p.Leu286Pro)
c.1106T>C (p.Leu369Pro)
c.920T>C (p.Leu307Pro)
c.758T>C (p.Leu253Pro)
c.1067T>C (p.Leu356Pro)
c.902T>C (p.Leu301Pro)
c.1151T>C (p.Leu384Pro)
c.965T>C (p.Leu322Pro)
n.1082T>C
13g.113118671T>GCA388786270F7c.998T>G (p.Leu333Arg)
c.1064T>G (p.Leu355Arg)
c.812T>G (p.Leu271Arg)
n.1085T>G
c.857T>G (p.Leu286Arg)
c.1106T>G (p.Leu369Arg)
c.920T>G (p.Leu307Arg)
c.758T>G (p.Leu253Arg)
c.1067T>G (p.Leu356Arg)
c.902T>G (p.Leu301Arg)
c.1151T>G (p.Leu384Arg)
c.965T>G (p.Leu322Arg)
n.1082T>G
13g.113118672G>ACA485423979F7c.999G>A (p.Leu333=)
c.1065G>A (p.Leu355=)
c.813G>A (p.Leu271=)
n.1086G>A
c.858G>A (p.Leu286=)
c.1107G>A (p.Leu369=)
c.921G>A (p.Leu307=)
c.759G>A (p.Leu253=)
c.1068G>A (p.Leu356=)
c.903G>A (p.Leu301=)
c.1152G>A (p.Leu384=)
c.966G>A (p.Leu322=)
n.1083G>A
13g.113118672G>CCA485423980F7c.999G>C (p.Leu333=)
c.1065G>C (p.Leu355=)
c.813G>C (p.Leu271=)
n.1086G>C
c.858G>C (p.Leu286=)
c.1107G>C (p.Leu369=)
c.921G>C (p.Leu307=)
c.759G>C (p.Leu253=)
c.1068G>C (p.Leu356=)
c.903G>C (p.Leu301=)
c.1152G>C (p.Leu384=)
c.966G>C (p.Leu322=)
n.1083G>C
13g.113118672G>TCA485423981F7c.999G>T (p.Leu333=)
c.1065G>T (p.Leu355=)
c.813G>T (p.Leu271=)
n.1086G>T
c.858G>T (p.Leu286=)
c.1107G>T (p.Leu369=)
c.921G>T (p.Leu307=)
c.759G>T (p.Leu253=)
c.1068G>T (p.Leu356=)
c.903G>T (p.Leu301=)
c.1152G>T (p.Leu384=)
c.966G>T (p.Leu322=)
n.1083G>T
13g.113118673G>ACA388786271F7c.1000G>A (p.Glu334Lys)
c.1066G>A (p.Glu356Lys)
c.814G>A (p.Glu272Lys)
n.1087G>A
c.859G>A (p.Glu287Lys)
c.1108G>A (p.Glu370Lys)
c.922G>A (p.Glu308Lys)
c.760G>A (p.Glu254Lys)
c.1069G>A (p.Glu357Lys)
c.904G>A (p.Glu302Lys)
c.1153G>A (p.Glu385Lys)
c.967G>A (p.Glu323Lys)
n.1084G>A
 gnomAD v4 COSMIC
13g.113118673G>CCA388786272F7c.1000G>C (p.Glu334Gln)
c.1066G>C (p.Glu356Gln)
c.814G>C (p.Glu272Gln)
n.1087G>C
c.859G>C (p.Glu287Gln)
c.1108G>C (p.Glu370Gln)
c.922G>C (p.Glu308Gln)
c.760G>C (p.Glu254Gln)
c.1069G>C (p.Glu357Gln)
c.904G>C (p.Glu302Gln)
c.1153G>C (p.Glu385Gln)
c.967G>C (p.Glu323Gln)
n.1084G>C
13g.113118673G>TCA388786273F7c.1000G>T (p.Glu334Ter)
c.1066G>T (p.Glu356Ter)
c.814G>T (p.Glu272Ter)
n.1087G>T
c.859G>T (p.Glu287Ter)
c.1108G>T (p.Glu370Ter)
c.922G>T (p.Glu308Ter)
c.760G>T (p.Glu254Ter)
c.1069G>T (p.Glu357Ter)
c.904G>T (p.Glu302Ter)
c.1153G>T (p.Glu385Ter)
c.967G>T (p.Glu323Ter)
n.1084G>T
13g.113118674A>CCA388786274F7c.1001A>C (p.Glu334Ala)
c.1067A>C (p.Glu356Ala)
c.815A>C (p.Glu272Ala)
n.1088A>C
c.860A>C (p.Glu287Ala)
c.1109A>C (p.Glu370Ala)
c.923A>C (p.Glu308Ala)
c.761A>C (p.Glu254Ala)
c.1070A>C (p.Glu357Ala)
c.905A>C (p.Glu302Ala)
c.1154A>C (p.Glu385Ala)
c.968A>C (p.Glu323Ala)
n.1085A>C
13g.113118674A>GCA388786275F7c.1001A>G (p.Glu334Gly)
c.1067A>G (p.Glu356Gly)
c.815A>G (p.Glu272Gly)
n.1088A>G
c.860A>G (p.Glu287Gly)
c.1109A>G (p.Glu370Gly)
c.923A>G (p.Glu308Gly)
c.761A>G (p.Glu254Gly)
c.1070A>G (p.Glu357Gly)
c.905A>G (p.Glu302Gly)
c.1154A>G (p.Glu385Gly)
c.968A>G (p.Glu323Gly)
n.1085A>G
 ClinVar
13g.113118674A>TCA388786276F7c.1001A>T (p.Glu334Val)
c.1067A>T (p.Glu356Val)
c.815A>T (p.Glu272Val)
n.1088A>T
c.860A>T (p.Glu287Val)
c.1109A>T (p.Glu370Val)
c.923A>T (p.Glu308Val)
c.761A>T (p.Glu254Val)
c.1070A>T (p.Glu357Val)
c.905A>T (p.Glu302Val)
c.1154A>T (p.Glu385Val)
c.968A>T (p.Glu323Val)
n.1085A>T
13g.113118675G>ACA485423982F7c.1002G>A (p.Glu334=)
c.1068G>A (p.Glu356=)
c.816G>A (p.Glu272=)
n.1089G>A
c.861G>A (p.Glu287=)
c.1110G>A (p.Glu370=)
c.924G>A (p.Glu308=)
c.762G>A (p.Glu254=)
c.1071G>A (p.Glu357=)
c.906G>A (p.Glu302=)
c.1155G>A (p.Glu385=)
c.969G>A (p.Glu323=)
n.1086G>A
13g.113118675G>CCA388786277F7c.1002G>C (p.Glu334Asp)
c.1068G>C (p.Glu356Asp)
c.816G>C (p.Glu272Asp)
n.1089G>C
c.861G>C (p.Glu287Asp)
c.1110G>C (p.Glu370Asp)
c.924G>C (p.Glu308Asp)
c.762G>C (p.Glu254Asp)
c.1071G>C (p.Glu357Asp)
c.906G>C (p.Glu302Asp)
c.1155G>C (p.Glu385Asp)
c.969G>C (p.Glu323Asp)
n.1086G>C
13g.113118675G>TCA388786278F7c.1002G>T (p.Glu334Asp)
c.1068G>T (p.Glu356Asp)
c.816G>T (p.Glu272Asp)
n.1089G>T
c.861G>T (p.Glu287Asp)
c.1110G>T (p.Glu370Asp)
c.924G>T (p.Glu308Asp)
c.762G>T (p.Glu254Asp)
c.1071G>T (p.Glu357Asp)
c.906G>T (p.Glu302Asp)
c.1155G>T (p.Glu385Asp)
c.969G>T (p.Glu323Asp)
n.1086G>T
13g.113118676C>ACA388786279F7c.1003C>A (p.Leu335Ile)
c.1069C>A (p.Leu357Ile)
c.817C>A (p.Leu273Ile)
n.1090C>A
c.862C>A (p.Leu288Ile)
c.1111C>A (p.Leu371Ile)
c.925C>A (p.Leu309Ile)
c.763C>A (p.Leu255Ile)
c.1072C>A (p.Leu358Ile)
c.907C>A (p.Leu303Ile)
c.1156C>A (p.Leu386Ile)
c.970C>A (p.Leu324Ile)
n.1087C>A
13g.113118676C>GCA388786281F7c.1003C>G (p.Leu335Val)
c.1069C>G (p.Leu357Val)
c.817C>G (p.Leu273Val)
n.1090C>G
c.862C>G (p.Leu288Val)
c.1111C>G (p.Leu371Val)
c.925C>G (p.Leu309Val)
c.763C>G (p.Leu255Val)
c.1072C>G (p.Leu358Val)
c.907C>G (p.Leu303Val)
c.1156C>G (p.Leu386Val)
c.970C>G (p.Leu324Val)
n.1087C>G
 gnomAD v4
13g.113118676C>TCA388786280F7c.1003C>T (p.Leu335Phe)
c.1069C>T (p.Leu357Phe)
c.817C>T (p.Leu273Phe)
n.1090C>T
c.862C>T (p.Leu288Phe)
c.1111C>T (p.Leu371Phe)
c.925C>T (p.Leu309Phe)
c.763C>T (p.Leu255Phe)
c.1072C>T (p.Leu358Phe)
c.907C>T (p.Leu303Phe)
c.1156C>T (p.Leu386Phe)
c.970C>T (p.Leu324Phe)
n.1087C>T
13g.113118677T>ACA388786282F7c.1004T>A (p.Leu335His)
c.1070T>A (p.Leu357His)
c.818T>A (p.Leu273His)
n.1091T>A
c.863T>A (p.Leu288His)
c.1112T>A (p.Leu371His)
c.926T>A (p.Leu309His)
c.764T>A (p.Leu255His)
c.1073T>A (p.Leu358His)
c.908T>A (p.Leu303His)
c.1157T>A (p.Leu386His)
c.971T>A (p.Leu324His)
n.1088T>A
13g.113118677T>CCA388786283F7c.1004T>C (p.Leu335Pro)
c.1070T>C (p.Leu357Pro)
c.818T>C (p.Leu273Pro)
n.1091T>C
c.863T>C (p.Leu288Pro)
c.1112T>C (p.Leu371Pro)
c.926T>C (p.Leu309Pro)
c.764T>C (p.Leu255Pro)
c.1073T>C (p.Leu358Pro)
c.908T>C (p.Leu303Pro)
c.1157T>C (p.Leu386Pro)
c.971T>C (p.Leu324Pro)
n.1088T>C
13g.113118677T>GCA388786284F7c.1004T>G (p.Leu335Arg)
c.1070T>G (p.Leu357Arg)
c.818T>G (p.Leu273Arg)
n.1091T>G
c.863T>G (p.Leu288Arg)
c.1112T>G (p.Leu371Arg)
c.926T>G (p.Leu309Arg)
c.764T>G (p.Leu255Arg)
c.1073T>G (p.Leu358Arg)
c.908T>G (p.Leu303Arg)
c.1157T>G (p.Leu386Arg)
c.971T>G (p.Leu324Arg)
n.1088T>G
13g.113118678C>ACA485423983F7c.1005C>A (p.Leu335=)
c.1071C>A (p.Leu357=)
c.819C>A (p.Leu273=)
n.1092C>A
c.864C>A (p.Leu288=)
c.1113C>A (p.Leu371=)
c.927C>A (p.Leu309=)
c.765C>A (p.Leu255=)
c.1074C>A (p.Leu358=)
c.909C>A (p.Leu303=)
c.1158C>A (p.Leu386=)
c.972C>A (p.Leu324=)
n.1089C>A
 gnomAD v4
13g.113118678C>GCA485423985F7c.1005C>G (p.Leu335=)
c.1071C>G (p.Leu357=)
c.819C>G (p.Leu273=)
n.1092C>G
c.864C>G (p.Leu288=)
c.1113C>G (p.Leu371=)
c.927C>G (p.Leu309=)
c.765C>G (p.Leu255=)
c.1074C>G (p.Leu358=)
c.909C>G (p.Leu303=)
c.1158C>G (p.Leu386=)
c.972C>G (p.Leu324=)
n.1089C>G
13g.113118678C>TCA485423984F7c.1005C>T (p.Leu335=)
c.1071C>T (p.Leu357=)
c.819C>T (p.Leu273=)
n.1092C>T
c.864C>T (p.Leu288=)
c.1113C>T (p.Leu371=)
c.927C>T (p.Leu309=)
c.765C>T (p.Leu255=)
c.1074C>T (p.Leu358=)
c.909C>T (p.Leu303=)
c.1158C>T (p.Leu386=)
c.972C>T (p.Leu324=)
n.1089C>T
13g.113118679A=CA2120142383F7c.1006A= (p.Met336=)
c.1072A= (p.Met358=)
c.820A= (p.Met274=)
n.1093A=
c.865A= (p.Met289=)
c.1114A= (p.Met372=)
c.928A= (p.Met310=)
c.766A= (p.Met256=)
c.1075A= (p.Met359=)
c.910A= (p.Met304=)
c.1159A= (p.Met387=)
c.973A= (p.Met325=)
n.1090A=
13g.113118679A>CCA256461714F7c.1006A>C (p.Met336Leu)
c.1072A>C (p.Met358Leu)
c.820A>C (p.Met274Leu)
n.1093A>C
c.865A>C (p.Met289Leu)
c.1114A>C (p.Met372Leu)
c.928A>C (p.Met310Leu)
c.766A>C (p.Met256Leu)
c.1075A>C (p.Met359Leu)
c.910A>C (p.Met304Leu)
c.1159A>C (p.Met387Leu)
c.973A>C (p.Met325Leu)
n.1090A>C
 dbSNP gnomAD v2 gnomAD v4
13g.113118679A>GCA388786285F7c.1006A>G (p.Met336Val)
c.1072A>G (p.Met358Val)
c.820A>G (p.Met274Val)
n.1093A>G
c.865A>G (p.Met289Val)
c.1114A>G (p.Met372Val)
c.928A>G (p.Met310Val)
c.766A>G (p.Met256Val)
c.1075A>G (p.Met359Val)
c.910A>G (p.Met304Val)
c.1159A>G (p.Met387Val)
c.973A>G (p.Met325Val)
n.1090A>G
 dbSNP gnomAD v2 gnomAD v4
13g.113118679A>TCA388786286F7c.1006A>T (p.Met336Leu)
c.1072A>T (p.Met358Leu)
c.820A>T (p.Met274Leu)
n.1093A>T
c.865A>T (p.Met289Leu)
c.1114A>T (p.Met372Leu)
c.928A>T (p.Met310Leu)
c.766A>T (p.Met256Leu)
c.1075A>T (p.Met359Leu)
c.910A>T (p.Met304Leu)
c.1159A>T (p.Met387Leu)
c.973A>T (p.Met325Leu)
n.1090A>T
 gnomAD v2 gnomAD v4
13g.113118680T>ACA388786287F7c.1007T>A (p.Met336Lys)
c.1073T>A (p.Met358Lys)
c.821T>A (p.Met274Lys)
n.1094T>A
c.866T>A (p.Met289Lys)
c.1115T>A (p.Met372Lys)
c.929T>A (p.Met310Lys)
c.767T>A (p.Met256Lys)
c.1076T>A (p.Met359Lys)
c.911T>A (p.Met304Lys)
c.1160T>A (p.Met387Lys)
c.974T>A (p.Met325Lys)
n.1091T>A
13g.113118680T>CCA388786288F7c.1007T>C (p.Met336Thr)
c.1073T>C (p.Met358Thr)
c.821T>C (p.Met274Thr)
n.1094T>C
c.866T>C (p.Met289Thr)
c.1115T>C (p.Met372Thr)
c.929T>C (p.Met310Thr)
c.767T>C (p.Met256Thr)
c.1076T>C (p.Met359Thr)
c.911T>C (p.Met304Thr)
c.1160T>C (p.Met387Thr)
c.974T>C (p.Met325Thr)
n.1091T>C
13g.113118680T>GCA388786289F7c.1007T>G (p.Met336Arg)
c.1073T>G (p.Met358Arg)
c.821T>G (p.Met274Arg)
n.1094T>G
c.866T>G (p.Met289Arg)
c.1115T>G (p.Met372Arg)
c.929T>G (p.Met310Arg)
c.767T>G (p.Met256Arg)
c.1076T>G (p.Met359Arg)
c.911T>G (p.Met304Arg)
c.1160T>G (p.Met387Arg)
c.974T>G (p.Met325Arg)
n.1091T>G
13g.113118681G>ACA7060213F7c.1008G>A (p.Met336Ile)
c.1074G>A (p.Met358Ile)
c.822G>A (p.Met274Ile)
n.1095G>A
c.867G>A (p.Met289Ile)
c.1116G>A (p.Met372Ile)
c.930G>A (p.Met310Ile)
c.768G>A (p.Met256Ile)
c.1077G>A (p.Met359Ile)
c.912G>A (p.Met304Ile)
c.1161G>A (p.Met387Ile)
c.975G>A (p.Met325Ile)
n.1092G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118681G>CCA388786291F7c.1008G>C (p.Met336Ile)
c.1074G>C (p.Met358Ile)
c.822G>C (p.Met274Ile)
n.1095G>C
c.867G>C (p.Met289Ile)
c.1116G>C (p.Met372Ile)
c.930G>C (p.Met310Ile)
c.768G>C (p.Met256Ile)
c.1077G>C (p.Met359Ile)
c.912G>C (p.Met304Ile)
c.1161G>C (p.Met387Ile)
c.975G>C (p.Met325Ile)
n.1092G>C
13g.113118681G=CA2120142393F7c.1008G= (p.Met336=)
c.1074G= (p.Met358=)
c.822G= (p.Met274=)
n.1095G=
c.867G= (p.Met289=)
c.1116G= (p.Met372=)
c.930G= (p.Met310=)
c.768G= (p.Met256=)
c.1077G= (p.Met359=)
c.912G= (p.Met304=)
c.1161G= (p.Met387=)
c.975G= (p.Met325=)
n.1092G=
13g.113118681G>TCA388786290F7c.1008G>T (p.Met336Ile)
c.1074G>T (p.Met358Ile)
c.822G>T (p.Met274Ile)
n.1095G>T
c.867G>T (p.Met289Ile)
c.1116G>T (p.Met372Ile)
c.930G>T (p.Met310Ile)
c.768G>T (p.Met256Ile)
c.1077G>T (p.Met359Ile)
c.912G>T (p.Met304Ile)
c.1161G>T (p.Met387Ile)
c.975G>T (p.Met325Ile)
n.1092G>T
13g.113118682delCA2800652035F7c.1009del (p.Val337SerfsTer7)
c.1075del (p.Val359SerfsTer7)
c.823del (p.Val275SerfsTer7)
n.1096del
c.868del (p.Val290SerfsTer7)
c.1117del (p.Val373SerfsTer7)
c.931del (p.Val311SerfsTer7)
c.769del (p.Val257SerfsTer7)
c.1078del (p.Val360SerfsTer7)
c.913del (p.Val305SerfsTer7)
c.1162del (p.Val388SerfsTer7)
c.976del (p.Val326SerfsTer7)
n.1093del
13g.113118682G>ACA388786292F7c.1009G>A (p.Val337Ile)
c.1075G>A (p.Val359Ile)
c.823G>A (p.Val275Ile)
n.1096G>A
c.868G>A (p.Val290Ile)
c.1117G>A (p.Val373Ile)
c.931G>A (p.Val311Ile)
c.769G>A (p.Val257Ile)
c.1078G>A (p.Val360Ile)
c.913G>A (p.Val305Ile)
c.1162G>A (p.Val388Ile)
c.976G>A (p.Val326Ile)
n.1093G>A
13g.113118682G>CCA388786293F7c.1009G>C (p.Val337Leu)
c.1075G>C (p.Val359Leu)
c.823G>C (p.Val275Leu)
n.1096G>C
c.868G>C (p.Val290Leu)
c.1117G>C (p.Val373Leu)
c.931G>C (p.Val311Leu)
c.769G>C (p.Val257Leu)
c.1078G>C (p.Val360Leu)
c.913G>C (p.Val305Leu)
c.1162G>C (p.Val388Leu)
c.976G>C (p.Val326Leu)
n.1093G>C
13g.113118682G>TCA388786294F7c.1009G>T (p.Val337Phe)
c.1075G>T (p.Val359Phe)
c.823G>T (p.Val275Phe)
n.1096G>T
c.868G>T (p.Val290Phe)
c.1117G>T (p.Val373Phe)
c.931G>T (p.Val311Phe)
c.769G>T (p.Val257Phe)
c.1078G>T (p.Val360Phe)
c.913G>T (p.Val305Phe)
c.1162G>T (p.Val388Phe)
c.976G>T (p.Val326Phe)
n.1093G>T
13g.113118683T>ACA388786295F7c.1010T>A (p.Val337Asp)
c.1076T>A (p.Val359Asp)
c.824T>A (p.Val275Asp)
n.1097T>A
c.869T>A (p.Val290Asp)
c.1118T>A (p.Val373Asp)
c.932T>A (p.Val311Asp)
c.770T>A (p.Val257Asp)
c.1079T>A (p.Val360Asp)
c.914T>A (p.Val305Asp)
c.1163T>A (p.Val388Asp)
c.977T>A (p.Val326Asp)
n.1094T>A
13g.113118683T>CCA388786296F7c.1010T>C (p.Val337Ala)
c.1076T>C (p.Val359Ala)
c.824T>C (p.Val275Ala)
n.1097T>C
c.869T>C (p.Val290Ala)
c.1118T>C (p.Val373Ala)
c.932T>C (p.Val311Ala)
c.770T>C (p.Val257Ala)
c.1079T>C (p.Val360Ala)
c.914T>C (p.Val305Ala)
c.1163T>C (p.Val388Ala)
c.977T>C (p.Val326Ala)
n.1094T>C
13g.113118683T>GCA388786297F7c.1010T>G (p.Val337Gly)
c.1076T>G (p.Val359Gly)
c.824T>G (p.Val275Gly)
n.1097T>G
c.869T>G (p.Val290Gly)
c.1118T>G (p.Val373Gly)
c.932T>G (p.Val311Gly)
c.770T>G (p.Val257Gly)
c.1079T>G (p.Val360Gly)
c.914T>G (p.Val305Gly)
c.1163T>G (p.Val388Gly)
c.977T>G (p.Val326Gly)
n.1094T>G
 dbSNP
13g.113118683T=CA2120142399F7c.1010T= (p.Val337=)
c.1076T= (p.Val359=)
c.824T= (p.Val275=)
n.1097T=
c.869T= (p.Val290=)
c.1118T= (p.Val373=)
c.932T= (p.Val311=)
c.770T= (p.Val257=)
c.1079T= (p.Val360=)
c.914T= (p.Val305=)
c.1163T= (p.Val388=)
c.977T= (p.Val326=)
n.1094T=
13g.113118684C>ACA485423987F7c.1011C>A (p.Val337=)
c.1077C>A (p.Val359=)
c.825C>A (p.Val275=)
n.1098C>A
c.870C>A (p.Val290=)
c.1119C>A (p.Val373=)
c.933C>A (p.Val311=)
c.771C>A (p.Val257=)
c.1080C>A (p.Val360=)
c.915C>A (p.Val305=)
c.1164C>A (p.Val388=)
c.978C>A (p.Val326=)
n.1095C>A
13g.113118684C>GCA485423988F7c.1011C>G (p.Val337=)
c.1077C>G (p.Val359=)
c.825C>G (p.Val275=)
n.1098C>G
c.870C>G (p.Val290=)
c.1119C>G (p.Val373=)
c.933C>G (p.Val311=)
c.771C>G (p.Val257=)
c.1080C>G (p.Val360=)
c.915C>G (p.Val305=)
c.1164C>G (p.Val388=)
c.978C>G (p.Val326=)
n.1095C>G
13g.113118684C>TCA485423986F7c.1011C>T (p.Val337=)
c.1077C>T (p.Val359=)
c.825C>T (p.Val275=)
n.1098C>T
c.870C>T (p.Val290=)
c.1119C>T (p.Val373=)
c.933C>T (p.Val311=)
c.771C>T (p.Val257=)
c.1080C>T (p.Val360=)
c.915C>T (p.Val305=)
c.1164C>T (p.Val388=)
c.978C>T (p.Val326=)
n.1095C>T
13g.113118685C>ACA388786298F7c.1012C>A (p.Leu338Ile)
c.1078C>A (p.Leu360Ile)
c.826C>A (p.Leu276Ile)
n.1099C>A
c.871C>A (p.Leu291Ile)
c.1120C>A (p.Leu374Ile)
c.934C>A (p.Leu312Ile)
c.772C>A (p.Leu258Ile)
c.1081C>A (p.Leu361Ile)
c.916C>A (p.Leu306Ile)
c.1165C>A (p.Leu389Ile)
c.979C>A (p.Leu327Ile)
n.1096C>A
13g.113118685C=CA2120142402F7c.1012C= (p.Leu338=)
c.1078C= (p.Leu360=)
c.826C= (p.Leu276=)
n.1099C=
c.871C= (p.Leu291=)
c.1120C= (p.Leu374=)
c.934C= (p.Leu312=)
c.772C= (p.Leu258=)
c.1081C= (p.Leu361=)
c.916C= (p.Leu306=)
c.1165C= (p.Leu389=)
c.979C= (p.Leu327=)
n.1096C=
13g.113118685C>GCA388786299F7c.1012C>G (p.Leu338Val)
c.1078C>G (p.Leu360Val)
c.826C>G (p.Leu276Val)
n.1099C>G
c.871C>G (p.Leu291Val)
c.1120C>G (p.Leu374Val)
c.934C>G (p.Leu312Val)
c.772C>G (p.Leu258Val)
c.1081C>G (p.Leu361Val)
c.916C>G (p.Leu306Val)
c.1165C>G (p.Leu389Val)
c.979C>G (p.Leu327Val)
n.1096C>G
13g.113118685C>TCA388786300F7c.1012C>T (p.Leu338Phe)
c.1078C>T (p.Leu360Phe)
c.826C>T (p.Leu276Phe)
n.1099C>T
c.871C>T (p.Leu291Phe)
c.1120C>T (p.Leu374Phe)
c.934C>T (p.Leu312Phe)
c.772C>T (p.Leu258Phe)
c.1081C>T (p.Leu361Phe)
c.916C>T (p.Leu306Phe)
c.1165C>T (p.Leu389Phe)
c.979C>T (p.Leu327Phe)
n.1096C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118686T>ACA388786301F7c.1013T>A (p.Leu338His)
c.1079T>A (p.Leu360His)
c.827T>A (p.Leu276His)
n.1100T>A
c.872T>A (p.Leu291His)
c.1121T>A (p.Leu374His)
c.935T>A (p.Leu312His)
c.773T>A (p.Leu258His)
c.1082T>A (p.Leu361His)
c.917T>A (p.Leu306His)
c.1166T>A (p.Leu389His)
c.980T>A (p.Leu327His)
n.1097T>A
13g.113118686T>CCA388786302F7c.1013T>C (p.Leu338Pro)
c.1079T>C (p.Leu360Pro)
c.827T>C (p.Leu276Pro)
n.1100T>C
c.872T>C (p.Leu291Pro)
c.1121T>C (p.Leu374Pro)
c.935T>C (p.Leu312Pro)
c.773T>C (p.Leu258Pro)
c.1082T>C (p.Leu361Pro)
c.917T>C (p.Leu306Pro)
c.1166T>C (p.Leu389Pro)
c.980T>C (p.Leu327Pro)
n.1097T>C
13g.113118686T>GCA388786303F7c.1013T>G (p.Leu338Arg)
c.1079T>G (p.Leu360Arg)
c.827T>G (p.Leu276Arg)
n.1100T>G
c.872T>G (p.Leu291Arg)
c.1121T>G (p.Leu374Arg)
c.935T>G (p.Leu312Arg)
c.773T>G (p.Leu258Arg)
c.1082T>G (p.Leu361Arg)
c.917T>G (p.Leu306Arg)
c.1166T>G (p.Leu389Arg)
c.980T>G (p.Leu327Arg)
n.1097T>G
13g.113118687C>ACA485423989F7c.1014C>A (p.Leu338=)
c.1080C>A (p.Leu360=)
c.828C>A (p.Leu276=)
n.1101C>A
c.873C>A (p.Leu291=)
c.1122C>A (p.Leu374=)
c.936C>A (p.Leu312=)
c.774C>A (p.Leu258=)
c.1083C>A (p.Leu361=)
c.918C>A (p.Leu306=)
c.1167C>A (p.Leu389=)
c.981C>A (p.Leu327=)
n.1098C>A
 COSMIC COSMIC
13g.113118687C>GCA485423990F7c.1014C>G (p.Leu338=)
c.1080C>G (p.Leu360=)
c.828C>G (p.Leu276=)
n.1101C>G
c.873C>G (p.Leu291=)
c.1122C>G (p.Leu374=)
c.936C>G (p.Leu312=)
c.774C>G (p.Leu258=)
c.1083C>G (p.Leu361=)
c.918C>G (p.Leu306=)
c.1167C>G (p.Leu389=)
c.981C>G (p.Leu327=)
n.1098C>G
13g.113118687C>TCA485423991F7c.1014C>T (p.Leu338=)
c.1080C>T (p.Leu360=)
c.828C>T (p.Leu276=)
n.1101C>T
c.873C>T (p.Leu291=)
c.1122C>T (p.Leu374=)
c.936C>T (p.Leu312=)
c.774C>T (p.Leu258=)
c.1083C>T (p.Leu361=)
c.918C>T (p.Leu306=)
c.1167C>T (p.Leu389=)
c.981C>T (p.Leu327=)
n.1098C>T
13g.113118688A=CA2120142406F7c.1015A= (p.Asn339=)
c.1081A= (p.Asn361=)
c.829A= (p.Asn277=)
n.1102A=
c.874A= (p.Asn292=)
c.1123A= (p.Asn375=)
c.937A= (p.Asn313=)
c.775A= (p.Asn259=)
c.1084A= (p.Asn362=)
c.919A= (p.Asn307=)
c.1168A= (p.Asn390=)
c.982A= (p.Asn328=)
n.1099A=
13g.113118688A>CCA388786306F7c.1015A>C (p.Asn339His)
c.1081A>C (p.Asn361His)
c.829A>C (p.Asn277His)
n.1102A>C
c.874A>C (p.Asn292His)
c.1123A>C (p.Asn375His)
c.937A>C (p.Asn313His)
c.775A>C (p.Asn259His)
c.1084A>C (p.Asn362His)
c.919A>C (p.Asn307His)
c.1168A>C (p.Asn390His)
c.982A>C (p.Asn328His)
n.1099A>C
 dbSNP
13g.113118688A>GCA388786304F7c.1015A>G (p.Asn339Asp)
c.1081A>G (p.Asn361Asp)
c.829A>G (p.Asn277Asp)
n.1102A>G
c.874A>G (p.Asn292Asp)
c.1123A>G (p.Asn375Asp)
c.937A>G (p.Asn313Asp)
c.775A>G (p.Asn259Asp)
c.1084A>G (p.Asn362Asp)
c.919A>G (p.Asn307Asp)
c.1168A>G (p.Asn390Asp)
c.982A>G (p.Asn328Asp)
n.1099A>G
13g.113118688A>TCA388786305F7c.1015A>T (p.Asn339Tyr)
c.1081A>T (p.Asn361Tyr)
c.829A>T (p.Asn277Tyr)
n.1102A>T
c.874A>T (p.Asn292Tyr)
c.1123A>T (p.Asn375Tyr)
c.937A>T (p.Asn313Tyr)
c.775A>T (p.Asn259Tyr)
c.1084A>T (p.Asn362Tyr)
c.919A>T (p.Asn307Tyr)
c.1168A>T (p.Asn390Tyr)
c.982A>T (p.Asn328Tyr)
n.1099A>T
13g.113118689A=CA2120142411F7c.1016A= (p.Asn339=)
c.1082A= (p.Asn361=)
c.830A= (p.Asn277=)
n.1103A=
c.875A= (p.Asn292=)
c.1124A= (p.Asn375=)
c.938A= (p.Asn313=)
c.776A= (p.Asn259=)
c.1085A= (p.Asn362=)
c.920A= (p.Asn307=)
c.1169A= (p.Asn390=)
c.983A= (p.Asn328=)
n.1100A=
13g.113118689A>CCA388786307F7c.1016A>C (p.Asn339Thr)
c.1082A>C (p.Asn361Thr)
c.830A>C (p.Asn277Thr)
n.1103A>C
c.875A>C (p.Asn292Thr)
c.1124A>C (p.Asn375Thr)
c.938A>C (p.Asn313Thr)
c.776A>C (p.Asn259Thr)
c.1085A>C (p.Asn362Thr)
c.920A>C (p.Asn307Thr)
c.1169A>C (p.Asn390Thr)
c.983A>C (p.Asn328Thr)
n.1100A>C
 gnomAD v4
13g.113118689A>GCA256461726F7c.1016A>G (p.Asn339Ser)
c.1082A>G (p.Asn361Ser)
c.830A>G (p.Asn277Ser)
n.1103A>G
c.875A>G (p.Asn292Ser)
c.1124A>G (p.Asn375Ser)
c.938A>G (p.Asn313Ser)
c.776A>G (p.Asn259Ser)
c.1085A>G (p.Asn362Ser)
c.920A>G (p.Asn307Ser)
c.1169A>G (p.Asn390Ser)
c.983A>G (p.Asn328Ser)
n.1100A>G
 dbSNP
13g.113118689A>TCA388786308F7c.1016A>T (p.Asn339Ile)
c.1082A>T (p.Asn361Ile)
c.830A>T (p.Asn277Ile)
n.1103A>T
c.875A>T (p.Asn292Ile)
c.1124A>T (p.Asn375Ile)
c.938A>T (p.Asn313Ile)
c.776A>T (p.Asn259Ile)
c.1085A>T (p.Asn362Ile)
c.920A>T (p.Asn307Ile)
c.1169A>T (p.Asn390Ile)
c.983A>T (p.Asn328Ile)
n.1100A>T
13g.113118690C>ACA388786309F7c.1017C>A (p.Asn339Lys)
c.1083C>A (p.Asn361Lys)
c.831C>A (p.Asn277Lys)
n.1104C>A
c.876C>A (p.Asn292Lys)
c.1125C>A (p.Asn375Lys)
c.939C>A (p.Asn313Lys)
c.777C>A (p.Asn259Lys)
c.1086C>A (p.Asn362Lys)
c.921C>A (p.Asn307Lys)
c.1170C>A (p.Asn390Lys)
c.984C>A (p.Asn328Lys)
n.1101C>A
13g.113118690C=CA2120142421F7c.1017C= (p.Asn339=)
c.1083C= (p.Asn361=)
c.831C= (p.Asn277=)
n.1104C=
c.876C= (p.Asn292=)
c.1125C= (p.Asn375=)
c.939C= (p.Asn313=)
c.777C= (p.Asn259=)
c.1086C= (p.Asn362=)
c.921C= (p.Asn307=)
c.1170C= (p.Asn390=)
c.984C= (p.Asn328=)
n.1101C=
13g.113118690C>GCA388786310F7c.1017C>G (p.Asn339Lys)
c.1083C>G (p.Asn361Lys)
c.831C>G (p.Asn277Lys)
n.1104C>G
c.876C>G (p.Asn292Lys)
c.1125C>G (p.Asn375Lys)
c.939C>G (p.Asn313Lys)
c.777C>G (p.Asn259Lys)
c.1086C>G (p.Asn362Lys)
c.921C>G (p.Asn307Lys)
c.1170C>G (p.Asn390Lys)
c.984C>G (p.Asn328Lys)
n.1101C>G
13g.113118690C>TCA7060214F7c.1017C>T (p.Asn339=)
c.1083C>T (p.Asn361=)
c.831C>T (p.Asn277=)
n.1104C>T
c.876C>T (p.Asn292=)
c.1125C>T (p.Asn375=)
c.939C>T (p.Asn313=)
c.777C>T (p.Asn259=)
c.1086C>T (p.Asn362=)
c.921C>T (p.Asn307=)
c.1170C>T (p.Asn390=)
c.984C>T (p.Asn328=)
n.1101C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118691G>ACA7060215F7c.1018G>A (p.Val340Met)
c.1084G>A (p.Val362Met)
c.832G>A (p.Val278Met)
n.1105G>A
c.877G>A (p.Val293Met)
c.1126G>A (p.Val376Met)
c.940G>A (p.Val314Met)
c.778G>A (p.Val260Met)
c.1087G>A (p.Val363Met)
c.922G>A (p.Val308Met)
c.1171G>A (p.Val391Met)
c.985G>A (p.Val329Met)
n.1102G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118691G>CCA388786311F7c.1018G>C (p.Val340Leu)
c.1084G>C (p.Val362Leu)
c.832G>C (p.Val278Leu)
n.1105G>C
c.877G>C (p.Val293Leu)
c.1126G>C (p.Val376Leu)
c.940G>C (p.Val314Leu)
c.778G>C (p.Val260Leu)
c.1087G>C (p.Val363Leu)
c.922G>C (p.Val308Leu)
c.1171G>C (p.Val391Leu)
c.985G>C (p.Val329Leu)
n.1102G>C
 gnomAD v4
13g.113118691G=CA2120142428F7c.1018G= (p.Val340=)
c.1084G= (p.Val362=)
c.832G= (p.Val278=)
n.1105G=
c.877G= (p.Val293=)
c.1126G= (p.Val376=)
c.940G= (p.Val314=)
c.778G= (p.Val260=)
c.1087G= (p.Val363=)
c.922G= (p.Val308=)
c.1171G= (p.Val391=)
c.985G= (p.Val329=)
n.1102G=
13g.113118691G>TCA388786312F7c.1018G>T (p.Val340Leu)
c.1084G>T (p.Val362Leu)
c.832G>T (p.Val278Leu)
n.1105G>T
c.877G>T (p.Val293Leu)
c.1126G>T (p.Val376Leu)
c.940G>T (p.Val314Leu)
c.778G>T (p.Val260Leu)
c.1087G>T (p.Val363Leu)
c.922G>T (p.Val308Leu)
c.1171G>T (p.Val391Leu)
c.985G>T (p.Val329Leu)
n.1102G>T
13g.113118692T>ACA388786313F7c.1019T>A (p.Val340Glu)
c.1085T>A (p.Val362Glu)
c.833T>A (p.Val278Glu)
n.1106T>A
c.878T>A (p.Val293Glu)
c.1127T>A (p.Val376Glu)
c.941T>A (p.Val314Glu)
c.779T>A (p.Val260Glu)
c.1088T>A (p.Val363Glu)
c.923T>A (p.Val308Glu)
c.1172T>A (p.Val391Glu)
c.986T>A (p.Val329Glu)
n.1103T>A
13g.113118692T>CCA388786314F7c.1019T>C (p.Val340Ala)
c.1085T>C (p.Val362Ala)
c.833T>C (p.Val278Ala)
n.1106T>C
c.878T>C (p.Val293Ala)
c.1127T>C (p.Val376Ala)
c.941T>C (p.Val314Ala)
c.779T>C (p.Val260Ala)
c.1088T>C (p.Val363Ala)
c.923T>C (p.Val308Ala)
c.1172T>C (p.Val391Ala)
c.986T>C (p.Val329Ala)
n.1103T>C
13g.113118692T>GCA388786315F7c.1019T>G (p.Val340Gly)
c.1085T>G (p.Val362Gly)
c.833T>G (p.Val278Gly)
n.1106T>G
c.878T>G (p.Val293Gly)
c.1127T>G (p.Val376Gly)
c.941T>G (p.Val314Gly)
c.779T>G (p.Val260Gly)
c.1088T>G (p.Val363Gly)
c.923T>G (p.Val308Gly)
c.1172T>G (p.Val391Gly)
c.986T>G (p.Val329Gly)
n.1103T>G
13g.113118693G>ACA485423992F7c.1020G>A (p.Val340=)
c.1086G>A (p.Val362=)
c.834G>A (p.Val278=)
n.1107G>A
c.879G>A (p.Val293=)
c.1128G>A (p.Val376=)
c.942G>A (p.Val314=)
c.780G>A (p.Val260=)
c.1089G>A (p.Val363=)
c.924G>A (p.Val308=)
c.1173G>A (p.Val391=)
c.987G>A (p.Val329=)
n.1104G>A
13g.113118693G>CCA485423993F7c.1020G>C (p.Val340=)
c.1086G>C (p.Val362=)
c.834G>C (p.Val278=)
n.1107G>C
c.879G>C (p.Val293=)
c.1128G>C (p.Val376=)
c.942G>C (p.Val314=)
c.780G>C (p.Val260=)
c.1089G>C (p.Val363=)
c.924G>C (p.Val308=)
c.1173G>C (p.Val391=)
c.987G>C (p.Val329=)
n.1104G>C
13g.113118693G>TCA485423994F7c.1020G>T (p.Val340=)
c.1086G>T (p.Val362=)
c.834G>T (p.Val278=)
n.1107G>T
c.879G>T (p.Val293=)
c.1128G>T (p.Val376=)
c.942G>T (p.Val314=)
c.780G>T (p.Val260=)
c.1089G>T (p.Val363=)
c.924G>T (p.Val308=)
c.1173G>T (p.Val391=)
c.987G>T (p.Val329=)
n.1104G>T
13g.113118694C>ACA388786317F7c.1021C>A (p.Pro341Thr)
c.1087C>A (p.Pro363Thr)
c.835C>A (p.Pro279Thr)
n.1108C>A
c.880C>A (p.Pro294Thr)
c.1129C>A (p.Pro377Thr)
c.943C>A (p.Pro315Thr)
c.781C>A (p.Pro261Thr)
c.1090C>A (p.Pro364Thr)
c.925C>A (p.Pro309Thr)
c.1174C>A (p.Pro392Thr)
c.988C>A (p.Pro330Thr)
n.1105C>A
13g.113118694C>GCA388786318F7c.1021C>G (p.Pro341Ala)
c.1087C>G (p.Pro363Ala)
c.835C>G (p.Pro279Ala)
n.1108C>G
c.880C>G (p.Pro294Ala)
c.1129C>G (p.Pro377Ala)
c.943C>G (p.Pro315Ala)
c.781C>G (p.Pro261Ala)
c.1090C>G (p.Pro364Ala)
c.925C>G (p.Pro309Ala)
c.1174C>G (p.Pro392Ala)
c.988C>G (p.Pro330Ala)
n.1105C>G
13g.113118694C>TCA388786316F7c.1021C>T (p.Pro341Ser)
c.1087C>T (p.Pro363Ser)
c.835C>T (p.Pro279Ser)
n.1108C>T
c.880C>T (p.Pro294Ser)
c.1129C>T (p.Pro377Ser)
c.943C>T (p.Pro315Ser)
c.781C>T (p.Pro261Ser)
c.1090C>T (p.Pro364Ser)
c.925C>T (p.Pro309Ser)
c.1174C>T (p.Pro392Ser)
c.988C>T (p.Pro330Ser)
n.1105C>T
13g.113118697delCA2623809111F7c.1024del (p.Arg342GlyfsTer2)
c.1090del (p.Arg364GlyfsTer2)
c.838del (p.Arg280GlyfsTer2)
n.1111del
c.883del (p.Arg295GlyfsTer2)
c.1132del (p.Arg378GlyfsTer2)
c.946del (p.Arg316GlyfsTer2)
c.784del (p.Arg262GlyfsTer2)
c.1093del (p.Arg365GlyfsTer2)
c.928del (p.Arg310GlyfsTer2)
c.1177del (p.Arg393GlyfsTer2)
c.991del (p.Arg331GlyfsTer2)
n.1108del
 gnomAD v4
13g.113118696_113118697delCA2695218990F7c.1023_1024del (p.Arg342AlafsTer?)
c.1089_1090del (p.Arg364AlafsTer?)
c.837_838del (p.Arg280AlafsTer?)
n.1110_1111del
c.882_883del (p.Arg295AlafsTer?)
c.1131_1132del (p.Arg378AlafsTer?)
c.945_946del (p.Arg316AlafsTer?)
c.783_784del (p.Arg262AlafsTer?)
c.1092_1093del (p.Arg365AlafsTer?)
c.927_928del (p.Arg310AlafsTer?)
c.1176_1177del (p.Arg393AlafsTer?)
c.990_991del (p.Arg331AlafsTer?)
n.1107_1108del
13g.113118695C>ACA388786319F7c.1022C>A (p.Pro341His)
c.1088C>A (p.Pro363His)
c.836C>A (p.Pro279His)
n.1109C>A
c.881C>A (p.Pro294His)
c.1130C>A (p.Pro377His)
c.944C>A (p.Pro315His)
c.782C>A (p.Pro261His)
c.1091C>A (p.Pro364His)
c.926C>A (p.Pro309His)
c.1175C>A (p.Pro392His)
c.989C>A (p.Pro330His)
n.1106C>A
13g.113118695C=CA2120142430F7c.1022C= (p.Pro341=)
c.1088C= (p.Pro363=)
c.836C= (p.Pro279=)
n.1109C=
c.881C= (p.Pro294=)
c.1130C= (p.Pro377=)
c.944C= (p.Pro315=)
c.782C= (p.Pro261=)
c.1091C= (p.Pro364=)
c.926C= (p.Pro309=)
c.1175C= (p.Pro392=)
c.989C= (p.Pro330=)
n.1106C=
13g.113118695C>GCA256461738F7c.1022C>G (p.Pro341Arg)
c.1088C>G (p.Pro363Arg)
c.836C>G (p.Pro279Arg)
n.1109C>G
c.881C>G (p.Pro294Arg)
c.1130C>G (p.Pro377Arg)
c.944C>G (p.Pro315Arg)
c.782C>G (p.Pro261Arg)
c.1091C>G (p.Pro364Arg)
c.926C>G (p.Pro309Arg)
c.1175C>G (p.Pro392Arg)
c.989C>G (p.Pro330Arg)
n.1106C>G
 dbSNP gnomAD v2 gnomAD v4
13g.113118695C>TCA388786320F7c.1022C>T (p.Pro341Leu)
c.1088C>T (p.Pro363Leu)
c.836C>T (p.Pro279Leu)
n.1109C>T
c.881C>T (p.Pro294Leu)
c.1130C>T (p.Pro377Leu)
c.944C>T (p.Pro315Leu)
c.782C>T (p.Pro261Leu)
c.1091C>T (p.Pro364Leu)
c.926C>T (p.Pro309Leu)
c.1175C>T (p.Pro392Leu)
c.989C>T (p.Pro330Leu)
n.1106C>T
 gnomAD v4
13g.113118696C>ACA485423995F7c.1023C>A (p.Pro341=)
c.1089C>A (p.Pro363=)
c.837C>A (p.Pro279=)
n.1110C>A
c.882C>A (p.Pro294=)
c.1131C>A (p.Pro377=)
c.945C>A (p.Pro315=)
c.783C>A (p.Pro261=)
c.1092C>A (p.Pro364=)
c.927C>A (p.Pro309=)
c.1176C>A (p.Pro392=)
c.990C>A (p.Pro330=)
n.1107C>A
13g.113118696C=CA2120142437F7c.1023C= (p.Pro341=)
c.1089C= (p.Pro363=)
c.837C= (p.Pro279=)
n.1110C=
c.882C= (p.Pro294=)
c.1131C= (p.Pro377=)
c.945C= (p.Pro315=)
c.783C= (p.Pro261=)
c.1092C= (p.Pro364=)
c.927C= (p.Pro309=)
c.1176C= (p.Pro392=)
c.990C= (p.Pro330=)
n.1107C=
13g.113118696C>GCA7060216F7c.1023C>G (p.Pro341=)
c.1089C>G (p.Pro363=)
c.837C>G (p.Pro279=)
n.1110C>G
c.882C>G (p.Pro294=)
c.1131C>G (p.Pro377=)
c.945C>G (p.Pro315=)
c.783C>G (p.Pro261=)
c.1092C>G (p.Pro364=)
c.927C>G (p.Pro309=)
c.1176C>G (p.Pro392=)
c.990C>G (p.Pro330=)
n.1107C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118696C>TCA485423996F7c.1023C>T (p.Pro341=)
c.1089C>T (p.Pro363=)
c.837C>T (p.Pro279=)
n.1110C>T
c.882C>T (p.Pro294=)
c.1131C>T (p.Pro377=)
c.945C>T (p.Pro315=)
c.783C>T (p.Pro261=)
c.1092C>T (p.Pro364=)
c.927C>T (p.Pro309=)
c.1176C>T (p.Pro392=)
c.990C>T (p.Pro330=)
n.1107C>T
13g.113118697C>ACA485423997F7c.1024C>A (p.Arg342=)
c.1090C>A (p.Arg364=)
c.838C>A (p.Arg280=)
n.1111C>A
c.883C>A (p.Arg295=)
c.1132C>A (p.Arg378=)
c.946C>A (p.Arg316=)
c.784C>A (p.Arg262=)
c.1093C>A (p.Arg365=)
c.928C>A (p.Arg310=)
c.1177C>A (p.Arg393=)
c.991C>A (p.Arg331=)
n.1108C>A
13g.113118697C=CA2120142441F7c.1024C= (p.Arg342=)
c.1090C= (p.Arg364=)
c.838C= (p.Arg280=)
n.1111C=
c.883C= (p.Arg295=)
c.1132C= (p.Arg378=)
c.946C= (p.Arg316=)
c.784C= (p.Arg262=)
c.1093C= (p.Arg365=)
c.928C= (p.Arg310=)
c.1177C= (p.Arg393=)
c.991C= (p.Arg331=)
n.1108C=
13g.113118697C>GCA7060218F7c.1024C>G (p.Arg342Gly)
c.1090C>G (p.Arg364Gly)
c.838C>G (p.Arg280Gly)
n.1111C>G
c.883C>G (p.Arg295Gly)
c.1132C>G (p.Arg378Gly)
c.946C>G (p.Arg316Gly)
c.784C>G (p.Arg262Gly)
c.1093C>G (p.Arg365Gly)
c.928C>G (p.Arg310Gly)
c.1177C>G (p.Arg393Gly)
c.991C>G (p.Arg331Gly)
n.1108C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118697C>TCA7060217F7c.1024C>T (p.Arg342Trp)
c.1090C>T (p.Arg364Trp)
c.838C>T (p.Arg280Trp)
n.1111C>T
c.883C>T (p.Arg295Trp)
c.1132C>T (p.Arg378Trp)
c.946C>T (p.Arg316Trp)
c.784C>T (p.Arg262Trp)
c.1093C>T (p.Arg365Trp)
c.928C>T (p.Arg310Trp)
c.1177C>T (p.Arg393Trp)
c.991C>T (p.Arg331Trp)
n.1108C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.113118698G>ACA7060219F7c.1025G>A (p.Arg342Gln)
c.1091G>A (p.Arg364Gln)
c.839G>A (p.Arg280Gln)
n.1112G>A
c.884G>A (p.Arg295Gln)
c.1133G>A (p.Arg378Gln)
c.947G>A (p.Arg316Gln)
c.785G>A (p.Arg262Gln)
c.1094G>A (p.Arg365Gln)
c.929G>A (p.Arg310Gln)
c.1178G>A (p.Arg393Gln)
c.992G>A (p.Arg331Gln)
n.1109G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118698G>CCA388786321F7c.1025G>C (p.Arg342Pro)
c.1091G>C (p.Arg364Pro)
c.839G>C (p.Arg280Pro)
n.1112G>C
c.884G>C (p.Arg295Pro)
c.1133G>C (p.Arg378Pro)
c.947G>C (p.Arg316Pro)
c.785G>C (p.Arg262Pro)
c.1094G>C (p.Arg365Pro)
c.929G>C (p.Arg310Pro)
c.1178G>C (p.Arg393Pro)
c.992G>C (p.Arg331Pro)
n.1109G>C
13g.113118698G=CA2120142455F7c.1025G= (p.Arg342=)
c.1091G= (p.Arg364=)
c.839G= (p.Arg280=)
n.1112G=
c.884G= (p.Arg295=)
c.1133G= (p.Arg378=)
c.947G= (p.Arg316=)
c.785G= (p.Arg262=)
c.1094G= (p.Arg365=)
c.929G= (p.Arg310=)
c.1178G= (p.Arg393=)
c.992G= (p.Arg331=)
n.1109G=
13g.113118698G>TCA388786322F7c.1025G>T (p.Arg342Leu)
c.1091G>T (p.Arg364Leu)
c.839G>T (p.Arg280Leu)
n.1112G>T
c.884G>T (p.Arg295Leu)
c.1133G>T (p.Arg378Leu)
c.947G>T (p.Arg316Leu)
c.785G>T (p.Arg262Leu)
c.1094G>T (p.Arg365Leu)
c.929G>T (p.Arg310Leu)
c.1178G>T (p.Arg393Leu)
c.992G>T (p.Arg331Leu)
n.1109G>T

Number of alleles fetched