Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113118598A= | CA2120142132 | F7 | c.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= | |
13 | g.113118598A>C | CA485423931 | F7 | c.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 | |
13 | g.113118598A>G | CA388786126 | F7 | c.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 | |
13 | g.113118598A>T | CA388786127 | F7 | c.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 | |
13 | g.113118599G>A | CA388786128 | F7 | c.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 |
13 | g.113118599G>C | CA388786129 | F7 | c.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 | |
13 | g.113118599G= | CA2120142136 | F7 | c.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= | |
13 | g.113118599G>T | CA388786130 | F7 | c.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 | |
13 | g.113118599_113118600dup | CA612868317 | F7 | c.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 |
13 | g.113118600G>A | CA485423932 | F7 | c.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 | |
13 | g.113118600G>C | CA388786131 | F7 | c.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 | |
13 | g.113118600G>T | CA388786132 | F7 | c.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 | |
13 | g.113118601A>C | CA388786133 | F7 | c.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 | |
13 | g.113118601A>G | CA388786134 | F7 | c.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 |
13 | g.113118601A>T | CA388786135 | F7 | c.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 |
13 | g.113118602C>A | CA388786136 | F7 | c.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 | |
13 | g.113118602C= | CA2120142140 | F7 | c.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= | |
13 | g.113118602C>G | CA388786137 | F7 | c.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 | |
13 | g.113118602C>T | CA7060188 | F7 | c.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 |
13 | g.113118603G>A | CA7060189 | F7 | c.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 |
13 | g.113118603G>C | CA485423933 | F7 | c.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 |
13 | g.113118603G= | CA2120142153 | F7 | c.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= | |
13 | g.113118603G>T | CA256461637 | F7 | c.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 |
13 | g.113118604C>A | CA388786138 | F7 | c.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 |
13 | g.113118604C= | CA2120142157 | F7 | c.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= | |
13 | g.113118604C>G | CA388786139 | F7 | c.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 | |
13 | g.113118604C>T | CA485423934 | F7 | c.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 |
13 | g.113118605T>A | CA388786140 | F7 | c.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 |
13 | g.113118605T>C | CA388786141 | F7 | c.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 |
13 | g.113118605T>G | CA388786142 | F7 | c.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 | |
13 | g.113118606G>A | CA485423935 | F7 | c.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 | |
13 | g.113118606G>C | CA485423936 | F7 | c.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 | |
13 | g.113118606G>T | CA485423937 | F7 | c.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 | |
13 | g.113118607G>A | CA388786143 | F7 | c.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 | |
13 | g.113118607G>C | CA388786144 | F7 | c.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 |
13 | g.113118607G= | CA2120142158 | F7 | c.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= | |
13 | g.113118607G>T | CA388786145 | F7 | c.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 |
13 | g.113118608C>A | CA388786146 | F7 | c.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 | |
13 | g.113118608C>G | CA388786147 | F7 | c.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 | |
13 | g.113118608C>T | CA388786148 | F7 | c.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 | |
13 | g.113118609C>A | CA485423938 | F7 | c.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 | |
13 | g.113118609C>G | CA485423939 | F7 | c.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 | |
13 | g.113118609C>T | CA485423940 | F7 | c.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 | |
13 | g.113118610T>A | CA388786149 | F7 | c.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 | |
13 | g.113118610T>C | CA7060190 | F7 | c.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 |
13 | g.113118610T>G | CA388786150 | F7 | c.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 | |
13 | g.113118610T= | CA2120142163 | F7 | c.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= | |
13 | g.113118611T>A | CA388786151 | F7 | c.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 | |
13 | g.113118611T>C | CA388786153 | F7 | c.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 | |
13 | g.113118611T>G | CA388786152 | F7 | c.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 | |
13 | g.113118612C>A | CA388786154 | F7 | c.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 | |
13 | g.113118612C= | CA2120142173 | F7 | c.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= | |
13 | g.113118612C>G | CA388786155 | F7 | c.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 | |
13 | g.113118612C>T | CA7060191 | F7 | c.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 |
13 | g.113118613del | CA2695218971 | F7 | c.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 | |
13 | g.113118613G>A | CA7060192 | F7 | c.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 |
13 | g.113118613G>C | CA388786156 | F7 | c.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 |
13 | g.113118613G= | CA2120142183 | F7 | c.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= | |
13 | g.113118613G>T | CA388786157 | F7 | c.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 |
13 | g.113118614T>A | CA388786158 | F7 | c.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 | |
13 | g.113118614T>C | CA388786159 | F7 | c.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 | |
13 | g.113118614T>G | CA388786160 | F7 | c.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 | |
13 | g.113118615G>A | CA485423943 | F7 | c.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 |
13 | g.113118615G>C | CA485423942 | F7 | c.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 | |
13 | g.113118615G>T | CA485423941 | F7 | c.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 | |
13 | g.113118616C>A | CA388786161 | F7 | c.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 | |
13 | g.113118616C= | CA2120142191 | F7 | c.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= | |
13 | g.113118616C>G | CA388786162 | F7 | c.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 | |
13 | g.113118616C>T | CA7060193 | F7 | c.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 |
13 | g.113118617G>A | CA7060194 | F7 | c.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 |
13 | g.113118617G>C | CA388786163 | F7 | c.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 | |
13 | g.113118617G= | CA2120142196 | F7 | c.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= | |
13 | g.113118617G>T | CA388786164 | F7 | c.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 |
13 | g.113118618C>A | CA485423944 | F7 | c.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 | |
13 | g.113118618C= | CA2120142200 | F7 | c.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= | |
13 | g.113118618C>G | CA485423945 | F7 | c.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 | |
13 | g.113118618C>T | CA256461660 | F7 | c.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 |
13 | g.113118619T>A | CA388786167 | F7 | c.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 | |
13 | g.113118619T>C | CA388786165 | F7 | c.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 |
13 | g.113118619T>G | CA388786166 | F7 | c.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 | |
13 | g.113118619T= | CA2120142205 | F7 | c.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= | |
13 | g.113118620T>A | CA388786168 | F7 | c.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 | |
13 | g.113118620T>C | CA388786169 | F7 | c.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 | |
13 | g.113118620T>G | CA388786170 | F7 | c.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 | |
13 | g.113118621C>A | CA388786171 | F7 | c.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 | |
13 | g.113118621C= | CA2120142212 | F7 | c.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= | |
13 | g.113118621C>G | CA7060195 | F7 | c.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 |
13 | g.113118621C>T | CA485423946 | F7 | c.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 | |
13 | g.113118622T>A | CA388786172 | F7 | c.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 | |
13 | g.113118622T>C | CA388786173 | F7 | c.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 | |
13 | g.113118622T>G | CA388786174 | F7 | c.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 | |
13 | g.113118623C>A | CA388786175 | F7 | c.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 | |
13 | g.113118623C>G | CA388786176 | F7 | c.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 | |
13 | g.113118623C>T | CA388786177 | F7 | c.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 | |
13 | g.113118624A= | CA2120142213 | F7 | c.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= | |
13 | g.113118624A>C | CA485423947 | F7 | c.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 | |
13 | g.113118624A>G | CA7060196 | F7 | c.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 |
13 | g.113118624A>T | CA485423948 | F7 | c.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 | |
13 | g.113118625T>A | CA388786179 | F7 | c.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 | |
13 | g.113118625T>C | CA485423949 | F7 | c.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 | |
13 | g.113118625T>G | CA388786178 | F7 | c.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 | |
13 | g.113118626T>A | CA388786180 | F7 | c.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 | |
13 | g.113118626T>C | CA388786181 | F7 | c.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 | |
13 | g.113118626T>G | CA7060197 | F7 | c.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 |
13 | g.113118626T= | CA2120142219 | F7 | c.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= | |
13 | g.113118627G>A | CA7060198 | F7 | c.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 |
13 | g.113118627G>C | CA388786182 | F7 | c.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 | |
13 | g.113118627G= | CA2120142234 | F7 | c.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= | |
13 | g.113118627G>T | CA388786183 | F7 | c.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 | |
13 | g.113118628G>A | CA388786186 | F7 | c.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 | |
13 | g.113118628G>C | CA388786185 | F7 | c.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 | |
13 | g.113118628G>T | CA388786184 | F7 | c.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 | |
13 | g.113118629T>A | CA388786187 | F7 | c.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 | |
13 | g.113118629T>C | CA388786188 | F7 | c.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 | |
13 | g.113118629T>G | CA388786189 | F7 | c.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 | |
13 | g.113118630C>A | CA485423952 | F7 | c.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 | |
13 | g.113118630C= | CA2120142241 | F7 | c.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= | |
13 | g.113118630C>G | CA485423951 | F7 | c.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 | |
13 | g.113118630C>T | CA485423950 | F7 | c.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 |
13 | g.113118631A= | CA2120142246 | F7 | c.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= | |
13 | g.113118631A>C | CA388786190 | F7 | c.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 | |
13 | g.113118631A>G | CA388786191 | F7 | c.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 | |
13 | g.113118631A>T | CA388786192 | F7 | c.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 |
13 | g.113118632G>A | CA388786193 | F7 | c.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 |
13 | g.113118632G>C | CA388786195 | F7 | c.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 | |
13 | g.113118632G>T | CA388786194 | F7 | c.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 | |
13 | g.113118633C>A | CA388786196 | F7 | c.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 | |
13 | g.113118633C= | CA2120142248 | F7 | c.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= | |
13 | g.113118633C>G | CA388786197 | F7 | c.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 | |
13 | g.113118633C>T | CA7060199 | F7 | c.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 |
13 | g.113118634G>A | CA388786198 | F7 | c.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 |
13 | g.113118634G>C | CA388786199 | F7 | c.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 | |
13 | g.113118634G= | CA2120142250 | F7 | c.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= | |
13 | g.113118634G>T | CA388786200 | F7 | c.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 | |
13 | g.113118635G>A | CA388786201 | F7 | c.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 |
13 | g.113118635G>C | CA388786202 | F7 | c.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 | |
13 | g.113118635G= | CA2120142254 | F7 | c.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= | |
13 | g.113118635G>T | CA388786203 | F7 | c.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 | |
13 | g.113118636C>A | CA485423953 | F7 | c.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 | |
13 | g.113118636C>G | CA485423954 | F7 | c.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 | |
13 | g.113118636C>T | CA485423955 | F7 | c.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 | |
13 | g.113118637T>A | CA388786204 | F7 | c.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 | |
13 | g.113118637T>C | CA388786205 | F7 | c.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 | |
13 | g.113118637T>G | CA388786206 | F7 | c.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 | |
13 | g.113118638G>A | CA388786207 | F7 | c.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 |
13 | g.113118638G>C | CA388786209 | F7 | c.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 | |
13 | g.113118638G>T | CA388786208 | F7 | c.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 | |
13 | g.113118641del | CA2729207345 | F7 | c.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 |
13 | g.113118639G>A | CA388786210 | F7 | c.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 | |
13 | g.113118639G>C | CA388786211 | F7 | c.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 |
13 | g.113118639G>T | CA388786212 | F7 | c.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 |
13 | g.113118640G>A | CA388786213 | F7 | c.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 |
13 | g.113118640G>C | CA388786214 | F7 | c.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 | |
13 | g.113118640G= | CA2120142255 | F7 | c.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= | |
13 | g.113118640G>T | CA388786215 | F7 | c.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 |
13 | g.113118641G>A | CA388786218 | F7 | c.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 | |
13 | g.113118641G>C | CA388786217 | F7 | c.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 | |
13 | g.113118641G>T | CA388786216 | F7 | c.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 | |
13 | g.113118642C>A | CA485423956 | F7 | c.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 | |
13 | g.113118642C>G | CA485423958 | F7 | c.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 | |
13 | g.113118642C>T | CA485423957 | F7 | c.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 |
13 | g.113118643del | CA2623809069 | F7 | c.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 |
13 | g.113118643C>A | CA388786219 | F7 | c.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 | |
13 | g.113118643C>G | CA388786220 | F7 | c.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 | |
13 | g.113118643C>T | CA388786221 | F7 | c.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 | |
13 | g.113118644A>C | CA388786222 | F7 | c.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 | |
13 | g.113118644A>G | CA388786223 | F7 | c.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 |
13 | g.113118644A>T | CA388786224 | F7 | c.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 |
13 | g.113118645G>A | CA7060200 | F7 | c.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 |
13 | g.113118645G>C | CA388786226 | F7 | c.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 |
13 | g.113118645G= | CA2120142259 | F7 | c.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= | |
13 | g.113118645G>T | CA388786225 | F7 | c.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 | |
13 | g.113118646C>A | CA388786227 | F7 | c.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 | |
13 | g.113118646C>G | CA388786228 | F7 | c.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 |
13 | g.113118646C>T | CA485423959 | F7 | c.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 | |
13 | g.113118647del | CA2838032570 | F7 | c.974del (p.Leu325ArgfsTer19) c.1040del (p.Leu347ArgfsTer19) c.788del (p.Leu263ArgfsTer19) n.1061del c.833del (p.Leu278ArgfsTer19) c.1082del (p.Leu361ArgfsTer19) c.896del (p.Leu299ArgfsTer19) c.734del (p.Leu245ArgfsTer19) c.1043del (p.Leu348ArgfsTer19) c.878del (p.Leu293ArgfsTer19) c.1127del (p.Leu376ArgfsTer19) c.941del (p.Leu314ArgfsTer19) n.1058del | |
13 | g.113118647T>A | CA388786229 | F7 | c.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 | |
13 | g.113118647T>C | CA388786230 | F7 | c.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 | |
13 | g.113118647T>G | CA388786231 | F7 | c.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 | |
13 | g.113118648G>A | CA485423960 | F7 | c.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 |
13 | g.113118648G>C | CA485423961 | F7 | c.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 | |
13 | g.113118648G>T | CA485423962 | F7 | c.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 | |
13 | g.113118649C>A | CA388786232 | F7 | c.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 | |
13 | g.113118649C>G | CA388786233 | F7 | c.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 | |
13 | g.113118649C>T | CA485423963 | F7 | c.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 | |
13 | g.113118650T>A | CA388786234 | F7 | c.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 | |
13 | g.113118650T>C | CA388786235 | F7 | c.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 |
13 | g.113118650T>G | CA388786236 | F7 | c.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 | |
13 | g.113118651G>A | CA7060201 | F7 | c.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 |
13 | g.113118651G>C | CA485423964 | F7 | c.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 | |
13 | g.113118651G= | CA2120142264 | F7 | c.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= | |
13 | g.113118651G>T | CA485423965 | F7 | c.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 | |
13 | g.113118652G>A | CA7060202 | F7 | c.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 |
13 | g.113118652G>C | CA388786238 | F7 | c.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 |
13 | g.113118652G= | CA2120142269 | F7 | c.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= | |
13 | g.113118652G>T | CA388786237 | F7 | c.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 |
13 | g.113118653A>C | CA388786239 | F7 | c.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 |
13 | g.113118653A>G | CA388786240 | F7 | c.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 |
13 | g.113118653A>T | CA388786241 | F7 | c.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 | |
13 | g.113118654C>A | CA388786242 | F7 | c.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 |
13 | g.113118654C= | CA2120142273 | F7 | c.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= | |
13 | g.113118654C>G | CA388786243 | F7 | c.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 | |
13 | g.113118654C>T | CA7060203 | F7 | c.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 |
13 | g.113118655_113118656insATGAGCTCCAGGGCC | CA2840047288 | F7 | c.982_983insATGAGCTCCAGGGCC (p.Asp327_Arg328insHisGluLeuGlnGly) c.1048_1049insATGAGCTCCAGGGCC (p.Asp349_Arg350insHisGluLeuGlnGly) c.796_797insATGAGCTCCAGGGCC (p.Asp265_Arg266insHisGluLeuGlnGly) n.1069_1070insATGAGCTCCAGGGCC c.841_842insATGAGCTCCAGGGCC (p.Asp280_Arg281insHisGluLeuGlnGly) c.1090_1091insATGAGCTCCAGGGCC (p.Asp363_Arg364insHisGluLeuGlnGly) c.904_905insATGAGCTCCAGGGCC (p.Asp301_Arg302insHisGluLeuGlnGly) c.742_743insATGAGCTCCAGGGCC (p.Asp247_Arg248insHisGluLeuGlnGly) c.1051_1052insATGAGCTCCAGGGCC (p.Asp350_Arg351insHisGluLeuGlnGly) c.886_887insATGAGCTCCAGGGCC (p.Asp295_Arg296insHisGluLeuGlnGly) c.1135_1136insATGAGCTCCAGGGCC (p.Asp378_Arg379insHisGluLeuGlnGly) c.949_950insATGAGCTCCAGGGCC (p.Asp316_Arg317insHisGluLeuGlnGly) n.1066_1067insATGAGCTCCAGGGCC | |
13 | g.113118655del | CA2695218972 | F7 | c.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 | |
13 | g.113118655C>A | CA388786244 | F7 | c.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 |
13 | g.113118655C= | CA2120142285 | F7 | c.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= | |
13 | g.113118655C>G | CA388786245 | F7 | c.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 | |
13 | g.113118655C>T | CA7060204 | F7 | c.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 |
13 | g.113118656G>A | CA7060205 | F7 | c.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 |
13 | g.113118656G>C | CA388786246 | F7 | c.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 | |
13 | g.113118656G= | CA2120142296 | F7 | c.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= | |
13 | g.113118656G>T | CA388786247 | F7 | c.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 | |
13 | g.113118657T>A | CA485423968 | F7 | c.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 | |
13 | g.113118657T>C | CA485423967 | F7 | c.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 | |
13 | g.113118657T>G | CA485423966 | F7 | c.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 |
13 | g.113118657T= | CA2120142305 | F7 | c.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= | |
13 | g.113118658G>A | CA388786250 | F7 | c.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 |
13 | g.113118658G>C | CA388786248 | F7 | c.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 | |
13 | g.113118658G>T | CA388786249 | F7 | c.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 |
13 | g.113118659G>A | CA388786251 | F7 | c.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 | |
13 | g.113118659G>C | CA388786252 | F7 | c.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 | |
13 | g.113118659G>T | CA388786253 | F7 | c.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 | |
13 | g.113118660C>A | CA485423969 | F7 | c.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 | |
13 | g.113118660C= | CA2120142312 | F7 | c.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= | |
13 | g.113118660C>G | CA485423970 | F7 | c.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 | |
13 | g.113118660C>T | CA7060206 | F7 | c.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 |
13 | g.113118661G>A | CA7060207 | F7 | c.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 |
13 | g.113118661G>C | CA388786254 | F7 | c.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 |
13 | g.113118661G= | CA2018068580 | F7 | c.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= | |
13 | g.113118661G>T | CA256461692 | F7 | c.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 |
13 | g.113118662C>A | CA388786255 | F7 | c.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 | |
13 | g.113118662C= | CA2120142334 | F7 | c.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= | |
13 | g.113118662C>G | CA388786256 | F7 | c.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 | |
13 | g.113118662C>T | CA388786257 | F7 | c.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 |
13 | g.113118663C>A | CA485423971 | F7 | c.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 | |
13 | g.113118663C= | CA2120142340 | F7 | c.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= | |
13 | g.113118663C>G | CA485423972 | F7 | c.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 | |
13 | g.113118663C>T | CA7060208 | F7 | c.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 |
13 | g.113118664A= | CA2120142347 | F7 | c.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= | |
13 | g.113118664A>C | CA7060209 | F7 | c.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 |
13 | g.113118664A>G | CA388786259 | F7 | c.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 | |
13 | g.113118664A>T | CA388786258 | F7 | c.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 | |
13 | g.113118665C>A | CA388786260 | F7 | c.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 |
13 | g.113118665C= | CA2120142352 | F7 | c.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= | |
13 | g.113118665C>G | CA388786261 | F7 | c.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 | |
13 | g.113118665C>T | CA7060210 | F7 | c.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 |
13 | g.113118666G>A | CA7060211 | F7 | c.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 |
13 | g.113118666G>C | CA485423973 | F7 | c.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 | |
13 | g.113118666G= | CA2120142356 | F7 | c.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= | |
13 | g.113118666G>T | CA485423974 | F7 | c.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 | |
13 | g.113118667G>A | CA388786263 | F7 | c.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 | |
13 | g.113118667G>C | CA388786262 | F7 | c.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 | |
13 | g.113118667G= | CA2120142362 | F7 | c.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= | |
13 | g.113118667G>T | CA7060212 | F7 | c.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 |
13 | g.113118668C>A | CA388786264 | F7 | c.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 | |
13 | g.113118668C= | CA2120142367 | F7 | c.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= | |
13 | g.113118668C>G | CA388786265 | F7 | c.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 | |
13 | g.113118668C>T | CA121850 | F7 | c.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 |
13 | g.113118670dup | CA2840370919 | F7 | c.997dup (p.Leu333ProfsTer?) c.1063dup (p.Leu355ProfsTer?) c.811dup (p.Leu271ProfsTer?) n.1084dup c.856dup (p.Leu286ProfsTer?) c.1105dup (p.Leu369ProfsTer?) c.919dup (p.Leu307ProfsTer?) c.757dup (p.Leu253ProfsTer?) c.1066dup (p.Leu356ProfsTer?) c.901dup (p.Leu301ProfsTer?) c.1150dup (p.Leu384ProfsTer?) c.964dup (p.Leu322ProfsTer?) n.1081dup | |
13 | g.113118669C>A | CA485423975 | F7 | c.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 |
13 | g.113118669C= | CA2120142375 | F7 | c.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= | |
13 | g.113118669C>G | CA485423977 | F7 | c.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 | |
13 | g.113118669C>T | CA485423976 | F7 | c.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 |
13 | g.113118670C>A | CA388786266 | F7 | c.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 | |
13 | g.113118670C= | CA2120142378 | F7 | c.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= | |
13 | g.113118670C>G | CA388786267 | F7 | c.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 |
13 | g.113118670C>T | CA485423978 | F7 | c.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 |
13 | g.113118671T>A | CA388786268 | F7 | c.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 | |
13 | g.113118671T>C | CA388786269 | F7 | c.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 | |
13 | g.113118671T>G | CA388786270 | F7 | c.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 | |
13 | g.113118672G>A | CA485423979 | F7 | c.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 | |
13 | g.113118672G>C | CA485423980 | F7 | c.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 | |
13 | g.113118672G>T | CA485423981 | F7 | c.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 | |
13 | g.113118673G>A | CA388786271 | F7 | c.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 |
13 | g.113118673G>C | CA388786272 | F7 | c.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 | |
13 | g.113118673G>T | CA388786273 | F7 | c.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 | |
13 | g.113118674A>C | CA388786274 | F7 | c.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 | |
13 | g.113118674A>G | CA388786275 | F7 | c.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 |
13 | g.113118674A>T | CA388786276 | F7 | c.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 | |
13 | g.113118675G>A | CA485423982 | F7 | c.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 | |
13 | g.113118675G>C | CA388786277 | F7 | c.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 | |
13 | g.113118675G>T | CA388786278 | F7 | c.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 | |
13 | g.113118676C>A | CA388786279 | F7 | c.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 | |
13 | g.113118676C>G | CA388786281 | F7 | c.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 |
13 | g.113118676C>T | CA388786280 | F7 | c.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 | |
13 | g.113118677T>A | CA388786282 | F7 | c.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 | |
13 | g.113118677T>C | CA388786283 | F7 | c.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 | |
13 | g.113118677T>G | CA388786284 | F7 | c.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 | |
13 | g.113118678C>A | CA485423983 | F7 | c.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 |
13 | g.113118678C>G | CA485423985 | F7 | c.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 | |
13 | g.113118678C>T | CA485423984 | F7 | c.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 | |
13 | g.113118679A= | CA2120142383 | F7 | c.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= | |
13 | g.113118679A>C | CA256461714 | F7 | c.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 |
13 | g.113118679A>G | CA388786285 | F7 | c.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 |
13 | g.113118679A>T | CA388786286 | F7 | c.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 |
13 | g.113118680T>A | CA388786287 | F7 | c.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 | |
13 | g.113118680T>C | CA388786288 | F7 | c.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 | |
13 | g.113118680T>G | CA388786289 | F7 | c.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 | |
13 | g.113118681G>A | CA7060213 | F7 | c.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 |
13 | g.113118681G>C | CA388786291 | F7 | c.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 | |
13 | g.113118681G= | CA2120142393 | F7 | c.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= | |
13 | g.113118681G>T | CA388786290 | F7 | c.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 | |
13 | g.113118682del | CA2800652035 | F7 | c.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 | |
13 | g.113118682G>A | CA388786292 | F7 | c.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 | |
13 | g.113118682G>C | CA388786293 | F7 | c.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 | |
13 | g.113118682G>T | CA388786294 | F7 | c.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 | |
13 | g.113118683T>A | CA388786295 | F7 | c.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 | |
13 | g.113118683T>C | CA388786296 | F7 | c.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 | |
13 | g.113118683T>G | CA388786297 | F7 | c.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 |
13 | g.113118683T= | CA2120142399 | F7 | c.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= | |
13 | g.113118684C>A | CA485423987 | F7 | c.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 | |
13 | g.113118684C>G | CA485423988 | F7 | c.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 | |
13 | g.113118684C>T | CA485423986 | F7 | c.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 | |
13 | g.113118685C>A | CA388786298 | F7 | c.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 | |
13 | g.113118685C= | CA2120142402 | F7 | c.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= | |
13 | g.113118685C>G | CA388786299 | F7 | c.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 | |
13 | g.113118685C>T | CA388786300 | F7 | c.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 |
13 | g.113118686T>A | CA388786301 | F7 | c.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 | |
13 | g.113118686T>C | CA388786302 | F7 | c.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 | |
13 | g.113118686T>G | CA388786303 | F7 | c.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 | |
13 | g.113118687C>A | CA485423989 | F7 | c.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 |
13 | g.113118687C>G | CA485423990 | F7 | c.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 | |
13 | g.113118687C>T | CA485423991 | F7 | c.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 | |
13 | g.113118688A= | CA2120142406 | F7 | c.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= | |
13 | g.113118688A>C | CA388786306 | F7 | c.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 |
13 | g.113118688A>G | CA388786304 | F7 | c.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 | |
13 | g.113118688A>T | CA388786305 | F7 | c.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 | |
13 | g.113118689A= | CA2120142411 | F7 | c.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= | |
13 | g.113118689A>C | CA388786307 | F7 | c.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 |
13 | g.113118689A>G | CA256461726 | F7 | c.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 |
13 | g.113118689A>T | CA388786308 | F7 | c.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 | |
13 | g.113118690C>A | CA388786309 | F7 | c.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 | |
13 | g.113118690C= | CA2120142421 | F7 | c.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= | |
13 | g.113118690C>G | CA388786310 | F7 | c.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 | |
13 | g.113118690C>T | CA7060214 | F7 | c.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 |
13 | g.113118691G>A | CA7060215 | F7 | c.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 |
13 | g.113118691G>C | CA388786311 | F7 | c.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 |
13 | g.113118691G= | CA2120142428 | F7 | c.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= | |
13 | g.113118691G>T | CA388786312 | F7 | c.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 | |
13 | g.113118692T>A | CA388786313 | F7 | c.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 | |
13 | g.113118692T>C | CA388786314 | F7 | c.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 | |
13 | g.113118692T>G | CA388786315 | F7 | c.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 | |
13 | g.113118693G>A | CA485423992 | F7 | c.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 | |
13 | g.113118693G>C | CA485423993 | F7 | c.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 | |
13 | g.113118693G>T | CA485423994 | F7 | c.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 | |
13 | g.113118694C>A | CA388786317 | F7 | c.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 | |
13 | g.113118694C>G | CA388786318 | F7 | c.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 | |
13 | g.113118694C>T | CA388786316 | F7 | c.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 | |
13 | g.113118697del | CA2623809111 | F7 | c.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 |
13 | g.113118696_113118697del | CA2695218990 | F7 | c.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 | |
13 | g.113118695C>A | CA388786319 | F7 | c.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 | |
13 | g.113118695C= | CA2120142430 | F7 | c.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= | |
13 | g.113118695C>G | CA256461738 | F7 | c.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 |
13 | g.113118695C>T | CA388786320 | F7 | c.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 |
13 | g.113118696C>A | CA485423995 | F7 | c.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 | |
13 | g.113118696C= | CA2120142437 | F7 | c.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= | |
13 | g.113118696C>G | CA7060216 | F7 | c.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 |
13 | g.113118696C>T | CA485423996 | F7 | c.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 | |
13 | g.113118697C>A | CA485423997 | F7 | c.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 | |
13 | g.113118697C= | CA2120142441 | F7 | c.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= | |
13 | g.113118697C>G | CA7060218 | F7 | c.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 |
13 | g.113118697C>T | CA7060217 | F7 | c.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 |
13 | g.113118698G>A | CA7060219 | F7 | c.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 |
13 | g.113118698G>C | CA388786321 | F7 | c.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 | |
13 | g.113118698G= | CA2120142455 | F7 | c.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= | |
13 | g.113118698G>T | CA388786322 | F7 | c.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 |