Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24081181_24081182dupCA2575490418NRLc.*54_*55dup (n.*54_*55dup)
14g.24081182T>ACA2624297376NRLc.*54A>T (n.*54A>T)
gnomAD v4
14g.24081182T>CCA257867978NRLc.*54A>G (n.*54A>G)
dbSNP gnomAD v4
14g.24081182T>GCA2575490419NRLc.*54A>C (n.*54A>C)
gnomAD v4
14g.24081182T=CA2123777025NRLc.*54A= (n.*54A=)
14g.24081182_24081183delinsTGCA2123777027NRLc.*53_*54delinsCA (n.*53_*54delinsCA)
14g.24081183G>ACA2624297377NRLc.*53C>T (n.*53C>T)
gnomAD v4
14g.24081183G>CCA613319067NRLc.*53C>G (n.*53C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081183G=CA2123777035NRLc.*53C= (n.*53C=)
14g.24081183G>TCA257867990NRLc.*53C>A (n.*53C>A)
dbSNP gnomAD v3 gnomAD v4
14g.24081185delCA2123777034NRLc.*53del (n.*53del)
dbSNP gnomAD v4
14g.24081183_24081186delinsGGGCCA2123777032NRLc.*50_*53delinsGCCC (n.*50_*53delinsGCCC)
14g.24081184G>ACA961115925NRLc.*52C>T (n.*52C>T)
dbSNP gnomAD v3 gnomAD v4
14g.24081184G=CA2123777038NRLc.*52C= (n.*52C=)
14g.24081184G>TCA2575490420NRLc.*52C>A (n.*52C>A)
gnomAD v4
14g.24081186_24081188delCA961115905NRLc.*50_*52del (n.*50_*52del)
dbSNP gnomAD v3 gnomAD v4
14g.24081185G>ACA2624297378NRLc.*51C>T (n.*51C>T)
gnomAD v4
14g.24081185G>CCA2624297379NRLc.*51C>G (n.*51C>G)
gnomAD v4
14g.24081185G>TCA2624297380NRLc.*51C>A (n.*51C>A)
gnomAD v4
14g.24081186delCA2624297382NRLc.*50del (n.*50del)
gnomAD v4
14g.24081186C>ACA7122803NRLc.*50G>T (n.*50G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081186C=CA2123777039NRLc.*50G= (n.*50G=)
14g.24081186C>TCA2624297381NRLc.*50G>A (n.*50G>A)
gnomAD v4
14g.24081187G>ACA613319068NRLc.*49C>T (n.*49C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081187G>CCA704330111NRLc.*49C>G (n.*49C>G)
dbSNP gnomAD v3 gnomAD v4
14g.24081187G=CA2123777041NRLc.*49C= (n.*49C=)
14g.24081187G>TCA2624297384NRLc.*49C>A (n.*49C>A)
gnomAD v4
14g.24081188G>ACA257867995NRLc.*48C>T (n.*48C>T)
dbSNP gnomAD v3 gnomAD v4
14g.24081188G>CCA257867997NRLc.*48C>G (n.*48C>G)
dbSNP
14g.24081188G=CA2123777044NRLc.*48C= (n.*48C=)
14g.24081188G>TCA2624297385NRLc.*48C>A (n.*48C>A)
gnomAD v4
14g.24081189A>CCA2624297386NRLc.*47T>G (n.*47T>G)
gnomAD v4
14g.24081189A>GCA2624297387NRLc.*47T>C (n.*47T>C)
gnomAD v4
14g.24081189A>TCA2729091190NRLc.*47T>A (n.*47T>A)
dbSNP
14g.24081190G>ACA2624297388NRLc.*46C>T (n.*46C>T)
gnomAD v4
14g.24081190G>TCA2624297389NRLc.*46C>A (n.*46C>A)
gnomAD v4
14g.24081191C>ACA2624297390NRLc.*45G>T (n.*45G>T)
gnomAD v4
14g.24081191C>GCA2624297391NRLc.*45G>C (n.*45G>C)
gnomAD v4
14g.24081191C>TCA2624297392NRLc.*45G>A (n.*45G>A)
gnomAD v4
14g.24081192C>ACA2624297393NRLc.*44G>T (n.*44G>T)
gnomAD v4
14g.24081192C>TCA2624297394NRLc.*44G>A (n.*44G>A)
gnomAD v4
14g.24081192_24081193insGCTAAAATGGGGAGGTTCA2800892046NRLc.*43_*44insAACCTCCCCATTTTAGC (n.*43_*44insAACCTCCCCATTTTAGC)
14g.24081193A=CA2123777046NRLc.*43T= (n.*43T=)
14g.24081193A>CCA2123777045NRLc.*43T>G (n.*43T>G)
dbSNP gnomAD v4
14g.24081193A>GCA2624297395NRLc.*43T>C (n.*43T>C)
gnomAD v4
14g.24081194C>ACA613319069NRLc.*42G>T (n.*42G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081194C=CA2123777047NRLc.*42G= (n.*42G=)
14g.24081194C>TCA2624297398NRLc.*42G>A (n.*42G>A)
gnomAD v4
14g.24081197dupCA2624297396NRLc.*42dup (n.*42dup)
gnomAD v4
14g.24081197delCA2624297397NRLc.*42del (n.*42del)
gnomAD v4
14g.24081196_24081197delCA2800892047NRLc.*41_*42del (n.*41_*42del)
14g.24081195C>ACA613319070NRLc.*41G>T (n.*41G>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081195C=CA2123777050NRLc.*41G= (n.*41G=)
14g.24081195C>TCA961115936NRLc.*41G>A (n.*41G>A)
dbSNP gnomAD v3 gnomAD v4
14g.24081196C>ACA613319071NRLc.*40G>T (n.*40G>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081196C=CA2123777053NRLc.*40G= (n.*40G=)
14g.24081196C>TCA2624297399NRLc.*40G>A (n.*40G>A)
gnomAD v4
14g.24081197C>ACA2624297400NRLc.*39G>T (n.*39G>T)
gnomAD v4
14g.24081197C>TCA2624297401NRLc.*39G>A (n.*39G>A)
gnomAD v4
14g.24081198A=CA2123777064NRLc.*38T= (n.*38T=)
14g.24081198A>CCA704330127NRLc.*38T>G (n.*38T>G)
dbSNP gnomAD v3 gnomAD v4
14g.24081198A>GCA2624297402NRLc.*38T>C (n.*38T>C)
gnomAD v4
14g.24081199C>ACA2624297404NRLc.*37G>T (n.*37G>T)
gnomAD v4
14g.24081199C>GCA2624297406NRLc.*37G>C (n.*37G>C)
gnomAD v4
14g.24081199C>TCA2624297405NRLc.*37G>A (n.*37G>A)
gnomAD v4
14g.24081201delCA2624297407NRLc.*37del (n.*37del)
gnomAD v4
14g.24081200C>ACA2624297409NRLc.*36G>T (n.*36G>T)
gnomAD v4
14g.24081200C>TCA2624297408NRLc.*36G>A (n.*36G>A)
gnomAD v4
14g.24081200_24081201insTTCAGAATGAAAATACA2800892048NRLc.*35_*36insTATTTTCATTCTGAA (n.*35_*36insTATTTTCATTCTGAA)
14g.24081201C>ACA613319072NRLc.*35G>T (n.*35G>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081201C=CA2123777070NRLc.*35G= (n.*35G=)
14g.24081201C>GCA2624297411NRLc.*35G>C (n.*35G>C)
gnomAD v4
14g.24081201C>TCA2624297412NRLc.*35G>A (n.*35G>A)
gnomAD v4
14g.24081202A>CCA2624297413NRLc.*34T>G (n.*34T>G)
gnomAD v4
14g.24081202A>GCA2624297414NRLc.*34T>C (n.*34T>C)
gnomAD v4
14g.24081203G>ACA2624297415NRLc.*33C>T (n.*33C>T)
gnomAD v4
14g.24081203G>TCA2624297416NRLc.*33C>A (n.*33C>A)
gnomAD v4
14g.24081204C>ACA2624297417NRLc.*32G>T (n.*32G>T)
gnomAD v4
14g.24081204C=CA2123777073NRLc.*32G= (n.*32G=)
14g.24081204C>TCA613319073NRLc.*32G>A (n.*32G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081208dupCA2624297419NRLc.*32dup (n.*32dup)
gnomAD v4
14g.24081208delCA2624297418NRLc.*32del (n.*32del)
gnomAD v4
14g.24081205C>ACA2624297420NRLc.*31G>T (n.*31G>T)
gnomAD v4
14g.24081205C>TCA2624297421NRLc.*31G>A (n.*31G>A)
gnomAD v4
14g.24081206C>ACA2624297422NRLc.*30G>T (n.*30G>T)
gnomAD v4
14g.24081206C>TCA2624297423NRLc.*30G>A (n.*30G>A)
gnomAD v4
14g.24081207_24081210delCA2534235522NRLc.*27_*30del (n.*27_*30del)
14g.24081207C>ACA2123777078NRLc.*29G>T (n.*29G>T)
dbSNP gnomAD v4
14g.24081207C=CA2123777076NRLc.*29G= (n.*29G=)
14g.24081207C>TCA2624297424NRLc.*29G>A (n.*29G>A)
gnomAD v4
14g.24081207_24081208insATTGCA2800892049NRLc.*28_*29insCAAT (n.*28_*29insCAAT)
14g.24081208C>ACA2624297431NRLc.*28G>T (n.*28G>T)
gnomAD v4
14g.24081208C=CA2123777081NRLc.*28G= (n.*28G=)
14g.24081208C>GCA2624297426NRLc.*28G>C (n.*28G>C)
gnomAD v4
14g.24081208C>TCA7122804NRLc.*28G>A (n.*28G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081208_24081209insTACA2800892050NRLc.*27_*28insTA (n.*27_*28insTA)
14g.24081209delCA2624297432NRLc.*27del (n.*27del)
gnomAD v4
14g.24081209A=CA2123777083NRLc.*27T= (n.*27T=)
14g.24081209A>GCA7122805NRLc.*27T>C (n.*27T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081210C>ACA2624297435NRLc.*26G>T (n.*26G>T)
gnomAD v4
14g.24081210C>GCA2624297436NRLc.*26G>C (n.*26G>C)
gnomAD v4
14g.24081210C>TCA2624297437NRLc.*26G>A (n.*26G>A)
gnomAD v4
14g.24081211T>CCA2624297438NRLc.*25A>G (n.*25A>G)
gnomAD v4
14g.24081212A>GCA2624297440NRLc.*24T>C (n.*24T>C)
gnomAD v4
14g.24081213C>ACA2624297442NRLc.*23G>T (n.*23G>T)
gnomAD v4
14g.24081213C=CA2123777087NRLc.*23G= (n.*23G=)
14g.24081213C>GCA2624297443NRLc.*23G>C (n.*23G>C)
gnomAD v4
14g.24081213C>TCA704330141NRLc.*23G>A (n.*23G>A)
dbSNP gnomAD v3 gnomAD v4
14g.24081214A>CCA2624297445NRLc.*22T>G (n.*22T>G)
gnomAD v4
14g.24081214A>GCA2624297448NRLc.*22T>C (n.*22T>C)
gnomAD v4
14g.24081215C>ACA961115944NRLc.*21G>T (n.*21G>T)
dbSNP gnomAD v3 gnomAD v4
14g.24081215C=CA2123777090NRLc.*21G= (n.*21G=)
14g.24081215C>GCA2624297454NRLc.*21G>C (n.*21G>C)
gnomAD v4
14g.24081215C>TCA2624297449NRLc.*21G>A (n.*21G>A)
gnomAD v4
14g.24081216C>ACA2624297460NRLc.*20G>T (n.*20G>T)
gnomAD v4
14g.24081216C>TCA655933279NRLc.*20G>A (n.*20G>A)
gnomAD v4 COSMIC
14g.24081216_24081217insTTTAATGTGTTCA2800892051NRLc.*19_*20insAACACATTAAA (n.*19_*20insAACACATTAAA)
14g.24081217A>GCA2624297461NRLc.*19T>C (n.*19T>C)
gnomAD v4
14g.24081217A>TCA2624297462NRLc.*19T>A (n.*19T>A)
gnomAD v4
14g.24081218C>ACA2624297463NRLc.*18G>T (n.*18G>T)
dbSNP gnomAD v4
14g.24081218C=CA2123777094NRLc.*18G= (n.*18G=)
14g.24081218C>GCA2624297464NRLc.*18G>C (n.*18G>C)
gnomAD v4
14g.24081218C>TCA613319074NRLc.*18G>A (n.*18G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081219A>GCA2624297466NRLc.*17T>C (n.*17T>C)
gnomAD v4
14g.24081220delCA2624297465NRLc.*17del (n.*17del)
gnomAD v4
14g.24081220A=CA2123777097NRLc.*16T= (n.*16T=)
14g.24081220A>CCA2624297468NRLc.*16T>G (n.*16T>G)
gnomAD v4
14g.24081220A>GCA7122806NRLc.*16T>C (n.*16T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081220A>TCA2624297469NRLc.*16T>A (n.*16T>A)
gnomAD v4
14g.24081220_24081221delinsAGCA2123777098NRLc.*15_*16delinsCT (n.*15_*16delinsCT)
14g.24081221G>ACA613319075NRLc.*15C>T (n.*15C>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081221G>CCA2575490421NRLc.*15C>G (n.*15C>G)
14g.24081221G=CA2123777104NRLc.*15C= (n.*15C=)
14g.24081221G>TCA2624297472NRLc.*15C>A (n.*15C>A)
gnomAD v4
14g.24081222delCA704330151NRLc.*15del (n.*15del)
dbSNP
14g.24081222G>ACA7122807NRLc.*14C>T (n.*14C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081222G>CCA2624297479NRLc.*14C>G (n.*14C>G)
gnomAD v4
14g.24081222G=CA2123777107NRLc.*14C= (n.*14C=)
14g.24081222G>TCA2624297480NRLc.*14C>A (n.*14C>A)
gnomAD v4
14g.24081223T>CCA2624297483NRLc.*13A>G (n.*13A>G)
gnomAD v4
14g.24081224G>ACA2624297484NRLc.*12C>T (n.*12C>T)
gnomAD v4
14g.24081224G>CCA2624297485NRLc.*12C>G (n.*12C>G)
gnomAD v4
14g.24081224G=CA2123777110NRLc.*12C= (n.*12C=)
14g.24081224G>TCA613319076NRLc.*12C>A (n.*12C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081224_24081225insAAAACA2800892052NRLc.*11_*12insTTTT (n.*11_*12insTTTT)
14g.24081225C>ACA2624297486NRLc.*11G>T (n.*11G>T)
gnomAD v4
14g.24081225C>GCA2624297487NRLc.*11G>C (n.*11G>C)
gnomAD v4
14g.24081225C>TCA2624297488NRLc.*11G>A (n.*11G>A)
gnomAD v4
14g.24081226T>CCA2624297491NRLc.*10A>G (n.*10A>G)
gnomAD v4
14g.24081227C>ACA2624297492NRLc.*9G>T (n.*9G>T)
gnomAD v4
14g.24081227C>TCA2624297493NRLc.*9G>A (n.*9G>A)
dbSNP gnomAD v4
14g.24081228T>CCA961115954NRLc.*8A>G (n.*8A>G)
dbSNP gnomAD v3 gnomAD v4
14g.24081228T>GCA2624297497NRLc.*8A>C (n.*8A>C)
dbSNP gnomAD v4
14g.24081228T=CA2123777112NRLc.*8A= (n.*8A=)
14g.24081229G>ACA2624297501NRLc.*7C>T (n.*7C>T)
gnomAD v4
14g.24081229G>CCA961115955NRLc.*7C>G (n.*7C>G)
dbSNP gnomAD v3 gnomAD v4
14g.24081229G=CA2123777114NRLc.*7C= (n.*7C=)
14g.24081229G>TCA2624297503NRLc.*7C>A (n.*7C>A)
gnomAD v4
14g.24081230A>GCA2624297504NRLc.*6T>C (n.*6T>C)
gnomAD v4
14g.24081231A>CCA2800892053NRLc.*5T>G (n.*5T>G)
14g.24081231A>GCA2624297506NRLc.*5T>C (n.*5T>C)
gnomAD v4
14g.24081231A>TCA2624297508NRLc.*5T>A (n.*5T>A)
gnomAD v4
14g.24081232C>ACA2624297509NRLc.*4G>T (n.*4G>T)
dbSNP gnomAD v4
14g.24081232C=CA2123777118NRLc.*4G= (n.*4G=)
14g.24081232C>GCA2624297510NRLc.*4G>C (n.*4G>C)
gnomAD v4
14g.24081232C>TCA257868023NRLc.*4G>A (n.*4G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081232_24081235delCA2800892054NRLc.*1_*4del (n.*1_*4del)
14g.24081233G>ACA7122808NRLc.*3C>T (n.*3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081233G>CCA613319077NRLc.*3C>G (n.*3C>G)
dbSNP gnomAD v2 gnomAD v4
14g.24081233G=CA2123777122NRLc.*3C= (n.*3C=)
14g.24081233G>TCA257868025NRLc.*3C>A (n.*3C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.24081234G>ACA2624297523NRLc.*2C>T (n.*2C>T)
gnomAD v4
14g.24081234G>CCA2624297524NRLc.*2C>G (n.*2C>G)
gnomAD v4
14g.24081234G>TCA2624297525NRLc.*2C>A (n.*2C>A)
gnomAD v4
14g.24081235C>ACA2624297528NRLc.*1G>T (n.*1G>T)
gnomAD v4
14g.24081235C>GCA2575490422NRLc.*1G>C (n.*1G>C)
14g.24081235C>TCA2575490423NRLc.*1G>A (n.*1G>A)
gnomAD v4
14g.24081236T>ACA389275949NRLc.714A>T (p.Ter238Cys)
c.297A>T (p.Ter99Cys)
c.813A>T (p.Ter271Cys)
c.498A>T (p.Ter166Cys)
c.399A>T (p.Ter133Cys)
c.1020A>T (p.Ter340Cys)
c.705A>T (p.Ter235Cys)
14g.24081236T>CCA389275951NRLc.714A>G (p.Ter238Trp)
c.297A>G (p.Ter99Trp)
c.813A>G (p.Ter271Trp)
c.498A>G (p.Ter166Trp)
c.399A>G (p.Ter133Trp)
c.1020A>G (p.Ter340Trp)
c.705A>G (p.Ter235Trp)
gnomAD v4
14g.24081236T>GCA389275953NRLc.714A>C (p.Ter238Cys)
c.297A>C (p.Ter99Cys)
c.813A>C (p.Ter271Cys)
c.498A>C (p.Ter166Cys)
c.399A>C (p.Ter133Cys)
c.1020A>C (p.Ter340Cys)
c.705A>C (p.Ter235Cys)
14g.24081237C>ACA7122809NRLc.713G>T (p.Ter238Leu)
c.296G>T (p.Ter99Leu)
c.812G>T (p.Ter271Leu)
c.497G>T (p.Ter166Leu)
c.398G>T (p.Ter133Leu)
c.1019G>T (p.Ter340Leu)
c.704G>T (p.Ter235Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081237C=CA2123777124NRLc.713G= (p.Ter238=)
c.296G= (p.Ter99=)
c.812G= (p.Ter271=)
c.497G= (p.Ter166=)
c.398G= (p.Ter133=)
c.1019G= (p.Ter340=)
c.704G= (p.Ter235=)
14g.24081237C>GCA389275957NRLc.713G>C (p.Ter238Ser)
c.296G>C (p.Ter99Ser)
c.812G>C (p.Ter271Ser)
c.497G>C (p.Ter166Ser)
c.398G>C (p.Ter133Ser)
c.1019G>C (p.Ter340Ser)
c.704G>C (p.Ter235Ser)
gnomAD v4
14g.24081237C>TCA485775420NRLc.713G>A (p.Ter238=)
c.296G>A (p.Ter99=)
c.812G>A (p.Ter271=)
c.497G>A (p.Ter166=)
c.398G>A (p.Ter133=)
c.1019G>A (p.Ter340=)
c.704G>A (p.Ter235=)
gnomAD v4
14g.24081237_24081238delCA2624297543NRLc.712_713del (p.Ter238SerextTer9)
c.295_296del (p.Ter99SerextTer9)
c.811_812del (p.Ter271SerextTer9)
c.496_497del (p.Ter166SerextTer9)
c.397_398del (p.Ter133SerextTer9)
c.1018_1019del (p.Ter340SerextTer9)
c.703_704del (p.Ter235SerextTer9)
gnomAD v4
14g.24081238A=CA2123777130NRLc.712T= (p.Ter238=)
c.295T= (p.Ter99=)
c.811T= (p.Ter271=)
c.496T= (p.Ter166=)
c.397T= (p.Ter133=)
c.1018T= (p.Ter340=)
c.703T= (p.Ter235=)
14g.24081238A>CCA389275968NRLc.712T>G (p.Ter238Gly)
c.295T>G (p.Ter99Gly)
c.811T>G (p.Ter271Gly)
c.496T>G (p.Ter166Gly)
c.397T>G (p.Ter133Gly)
c.1018T>G (p.Ter340Gly)
c.703T>G (p.Ter235Gly)
14g.24081238A>GCA389275967NRLc.712T>C (p.Ter238Arg)
c.295T>C (p.Ter99Arg)
c.811T>C (p.Ter271Arg)
c.496T>C (p.Ter166Arg)
c.397T>C (p.Ter133Arg)
c.1018T>C (p.Ter340Arg)
c.703T>C (p.Ter235Arg)
ClinVar dbSNP gnomAD v4
14g.24081238A>TCA389275964NRLc.712T>A (p.Ter238Arg)
c.295T>A (p.Ter99Arg)
c.811T>A (p.Ter271Arg)
c.496T>A (p.Ter166Arg)
c.397T>A (p.Ter133Arg)
c.1018T>A (p.Ter340Arg)
c.703T>A (p.Ter235Arg)
gnomAD v4
14g.24081239G>ACA485775421NRLc.711C>T (p.Leu237=)
c.294C>T (p.Leu98=)
c.810C>T (p.Leu270=)
c.495C>T (p.Leu165=)
c.396C>T (p.Leu132=)
c.1017C>T (p.Leu339=)
c.702C>T (p.Leu234=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24081239G>CCA180256NRLc.711C>G (p.Leu237=)
c.294C>G (p.Leu98=)
c.810C>G (p.Leu270=)
c.495C>G (p.Leu165=)
c.396C>G (p.Leu132=)
c.1017C>G (p.Leu339=)
c.702C>G (p.Leu234=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081239G=CA2123777137NRLc.711C= (p.Leu237=)
c.294C= (p.Leu98=)
c.810C= (p.Leu270=)
c.495C= (p.Leu165=)
c.396C= (p.Leu132=)
c.1017C= (p.Leu339=)
c.702C= (p.Leu234=)
14g.24081239G>TCA485775422NRLc.711C>A (p.Leu237=)
c.294C>A (p.Leu98=)
c.810C>A (p.Leu270=)
c.495C>A (p.Leu165=)
c.396C>A (p.Leu132=)
c.1017C>A (p.Leu339=)
c.702C>A (p.Leu234=)
gnomAD v4
14g.24081240A>CCA389275977NRLc.710T>G (p.Leu237Arg)
c.293T>G (p.Leu98Arg)
c.809T>G (p.Leu270Arg)
c.494T>G (p.Leu165Arg)
c.395T>G (p.Leu132Arg)
c.1016T>G (p.Leu339Arg)
c.701T>G (p.Leu234Arg)
14g.24081240A>GCA389275980NRLc.710T>C (p.Leu237Pro)
c.293T>C (p.Leu98Pro)
c.809T>C (p.Leu270Pro)
c.494T>C (p.Leu165Pro)
c.395T>C (p.Leu132Pro)
c.1016T>C (p.Leu339Pro)
c.701T>C (p.Leu234Pro)
gnomAD v4
14g.24081240A>TCA389275983NRLc.710T>A (p.Leu237His)
c.293T>A (p.Leu98His)
c.809T>A (p.Leu270His)
c.494T>A (p.Leu165His)
c.395T>A (p.Leu132His)
c.1016T>A (p.Leu339His)
c.701T>A (p.Leu234His)
gnomAD v4
14g.24081240_24081241delinsAGCA2123777146NRLc.709_710delinsCT (p.Leu237=)
c.292_293delinsCT (p.Leu98=)
c.808_809delinsCT (p.Leu270=)
c.493_494delinsCT (p.Leu165=)
c.394_395delinsCT (p.Leu132=)
c.1015_1016delinsCT (p.Leu339=)
c.700_701delinsCT (p.Leu234=)
14g.24081241G>ACA389275987NRLc.709C>T (p.Leu237Phe)
c.292C>T (p.Leu98Phe)
c.808C>T (p.Leu270Phe)
c.493C>T (p.Leu165Phe)
c.394C>T (p.Leu132Phe)
c.1015C>T (p.Leu339Phe)
c.700C>T (p.Leu234Phe)
ClinVar dbSNP gnomAD v4
14g.24081241G>CCA389275989NRLc.709C>G (p.Leu237Val)
c.292C>G (p.Leu98Val)
c.808C>G (p.Leu270Val)
c.493C>G (p.Leu165Val)
c.394C>G (p.Leu132Val)
c.1015C>G (p.Leu339Val)
c.700C>G (p.Leu234Val)
gnomAD v4
14g.24081241G=CA2123777153NRLc.709C= (p.Leu237=)
c.292C= (p.Leu98=)
c.808C= (p.Leu270=)
c.493C= (p.Leu165=)
c.394C= (p.Leu132=)
c.1015C= (p.Leu339=)
c.700C= (p.Leu234=)
14g.24081241G>TCA389275992NRLc.709C>A (p.Leu237Ile)
c.292C>A (p.Leu98Ile)
c.808C>A (p.Leu270Ile)
c.493C>A (p.Leu165Ile)
c.394C>A (p.Leu132Ile)
c.1015C>A (p.Leu339Ile)
c.700C>A (p.Leu234Ile)
gnomAD v4 COSMIC
14g.24081241_24081242delCA2800892055NRLc.708_709del (p.Ter238SerextTer9)
c.291_292del (p.Ter99SerextTer9)
c.807_808del (p.Ter271SerextTer9)
c.492_493del (p.Ter166SerextTer9)
c.393_394del (p.Ter133SerextTer9)
c.1014_1015del (p.Ter340SerextTer9)
c.699_700del (p.Ter235SerextTer9)
14g.24081242delCA2123777151NRLc.709del (p.Leu237SerfsTer?)
c.292del (p.Leu98SerfsTer?)
c.808del (p.Leu270SerfsTer?)
c.493del (p.Leu165SerfsTer?)
c.394del (p.Leu132SerfsTer?)
c.1015del (p.Leu339SerfsTer?)
c.700del (p.Leu234SerfsTer?)
dbSNP
14g.24081242G>ACA7122810NRLc.708C>T (p.Phe236=)
c.291C>T (p.Phe97=)
c.807C>T (p.Phe269=)
c.492C>T (p.Phe164=)
c.393C>T (p.Phe131=)
c.1014C>T (p.Phe338=)
c.699C>T (p.Phe233=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081242G>CCA389275998NRLc.708C>G (p.Phe236Leu)
c.291C>G (p.Phe97Leu)
c.807C>G (p.Phe269Leu)
c.492C>G (p.Phe164Leu)
c.393C>G (p.Phe131Leu)
c.1014C>G (p.Phe338Leu)
c.699C>G (p.Phe233Leu)
14g.24081242G=CA2123777161NRLc.708C= (p.Phe236=)
c.291C= (p.Phe97=)
c.807C= (p.Phe269=)
c.492C= (p.Phe164=)
c.393C= (p.Phe131=)
c.1014C= (p.Phe338=)
c.699C= (p.Phe233=)
14g.24081242G>TCA389276001NRLc.708C>A (p.Phe236Leu)
c.291C>A (p.Phe97Leu)
c.807C>A (p.Phe269Leu)
c.492C>A (p.Phe164Leu)
c.393C>A (p.Phe131Leu)
c.1014C>A (p.Phe338Leu)
c.699C>A (p.Phe233Leu)
gnomAD v4
14g.24081243A>CCA389276005NRLc.707T>G (p.Phe236Cys)
c.290T>G (p.Phe97Cys)
c.806T>G (p.Phe269Cys)
c.491T>G (p.Phe164Cys)
c.392T>G (p.Phe131Cys)
c.1013T>G (p.Phe338Cys)
c.698T>G (p.Phe233Cys)
14g.24081243A>GCA389276007NRLc.707T>C (p.Phe236Ser)
c.290T>C (p.Phe97Ser)
c.806T>C (p.Phe269Ser)
c.491T>C (p.Phe164Ser)
c.392T>C (p.Phe131Ser)
c.1013T>C (p.Phe338Ser)
c.698T>C (p.Phe233Ser)
gnomAD v4
14g.24081243A>TCA389276008NRLc.707T>A (p.Phe236Tyr)
c.290T>A (p.Phe97Tyr)
c.806T>A (p.Phe269Tyr)
c.491T>A (p.Phe164Tyr)
c.392T>A (p.Phe131Tyr)
c.1013T>A (p.Phe338Tyr)
c.698T>A (p.Phe233Tyr)
gnomAD v4
14g.24081244A>CCA389276016NRLc.706T>G (p.Phe236Val)
c.289T>G (p.Phe97Val)
c.805T>G (p.Phe269Val)
c.490T>G (p.Phe164Val)
c.391T>G (p.Phe131Val)
c.1012T>G (p.Phe338Val)
c.697T>G (p.Phe233Val)
14g.24081244A>GCA389276018NRLc.706T>C (p.Phe236Leu)
c.289T>C (p.Phe97Leu)
c.805T>C (p.Phe269Leu)
c.490T>C (p.Phe164Leu)
c.391T>C (p.Phe131Leu)
c.1012T>C (p.Phe338Leu)
c.697T>C (p.Phe233Leu)
gnomAD v4
14g.24081244A>TCA389276011NRLc.706T>A (p.Phe236Ile)
c.289T>A (p.Phe97Ile)
c.805T>A (p.Phe269Ile)
c.490T>A (p.Phe164Ile)
c.391T>A (p.Phe131Ile)
c.1012T>A (p.Phe338Ile)
c.697T>A (p.Phe233Ile)
14g.24081245G>ACA485775423NRLc.705C>T (p.Leu235=)
c.288C>T (p.Leu96=)
c.804C>T (p.Leu268=)
c.489C>T (p.Leu163=)
c.390C>T (p.Leu130=)
c.1011C>T (p.Leu337=)
c.696C>T (p.Leu232=)
14g.24081245G>CCA485775424NRLc.705C>G (p.Leu235=)
c.288C>G (p.Leu96=)
c.804C>G (p.Leu268=)
c.489C>G (p.Leu163=)
c.390C>G (p.Leu130=)
c.1011C>G (p.Leu337=)
c.696C>G (p.Leu232=)
14g.24081245G=CA2123777163NRLc.705C= (p.Leu235=)
c.288C= (p.Leu96=)
c.804C= (p.Leu268=)
c.489C= (p.Leu163=)
c.390C= (p.Leu130=)
c.1011C= (p.Leu337=)
c.696C= (p.Leu232=)
14g.24081245G>TCA257868036NRLc.705C>A (p.Leu235=)
c.288C>A (p.Leu96=)
c.804C>A (p.Leu268=)
c.489C>A (p.Leu163=)
c.390C>A (p.Leu130=)
c.1011C>A (p.Leu337=)
c.696C>A (p.Leu232=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081246A>CCA389276019NRLc.704T>G (p.Leu235Arg)
c.287T>G (p.Leu96Arg)
c.803T>G (p.Leu268Arg)
c.488T>G (p.Leu163Arg)
c.389T>G (p.Leu130Arg)
c.1010T>G (p.Leu337Arg)
c.695T>G (p.Leu232Arg)
14g.24081246A>GCA389276020NRLc.704T>C (p.Leu235Pro)
c.287T>C (p.Leu96Pro)
c.803T>C (p.Leu268Pro)
c.488T>C (p.Leu163Pro)
c.389T>C (p.Leu130Pro)
c.1010T>C (p.Leu337Pro)
c.695T>C (p.Leu232Pro)
gnomAD v4
14g.24081246A>TCA389276021NRLc.704T>A (p.Leu235His)
c.287T>A (p.Leu96His)
c.803T>A (p.Leu268His)
c.488T>A (p.Leu163His)
c.389T>A (p.Leu130His)
c.1010T>A (p.Leu337His)
c.695T>A (p.Leu232His)
gnomAD v4
14g.24081247G>ACA7122811NRLc.703C>T (p.Leu235Phe)
c.286C>T (p.Leu96Phe)
c.802C>T (p.Leu268Phe)
c.487C>T (p.Leu163Phe)
c.388C>T (p.Leu130Phe)
c.1009C>T (p.Leu337Phe)
c.694C>T (p.Leu232Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081247G>CCA389276022NRLc.703C>G (p.Leu235Val)
c.286C>G (p.Leu96Val)
c.802C>G (p.Leu268Val)
c.487C>G (p.Leu163Val)
c.388C>G (p.Leu130Val)
c.1009C>G (p.Leu337Val)
c.694C>G (p.Leu232Val)
COSMIC
14g.24081247G=CA2123777165NRLc.703C= (p.Leu235=)
c.286C= (p.Leu96=)
c.802C= (p.Leu268=)
c.487C= (p.Leu163=)
c.388C= (p.Leu130=)
c.1009C= (p.Leu337=)
c.694C= (p.Leu232=)
14g.24081247G>TCA389276025NRLc.703C>A (p.Leu235Ile)
c.286C>A (p.Leu96Ile)
c.802C>A (p.Leu268Ile)
c.487C>A (p.Leu163Ile)
c.388C>A (p.Leu130Ile)
c.1009C>A (p.Leu337Ile)
c.694C>A (p.Leu232Ile)
gnomAD v4
14g.24081247_24081249delinsGGTCA2123777167NRLc.701_703delinsACC (p.His234=)
c.284_286delinsACC (p.His95=)
c.800_802delinsACC (p.His267=)
c.485_487delinsACC (p.His162=)
c.386_388delinsACC (p.His129=)
c.1007_1009delinsACC (p.His336=)
c.692_694delinsACC (p.His231=)
14g.24081248G>ACA485775425NRLc.702C>T (p.His234=)
c.285C>T (p.His95=)
c.801C>T (p.His267=)
c.486C>T (p.His162=)
c.387C>T (p.His129=)
c.1008C>T (p.His336=)
c.693C>T (p.His231=)
gnomAD v4
14g.24081248G>CCA389276032NRLc.702C>G (p.His234Gln)
c.285C>G (p.His95Gln)
c.801C>G (p.His267Gln)
c.486C>G (p.His162Gln)
c.387C>G (p.His129Gln)
c.1008C>G (p.His336Gln)
c.693C>G (p.His231Gln)
14g.24081248G>TCA389276030NRLc.702C>A (p.His234Gln)
c.285C>A (p.His95Gln)
c.801C>A (p.His267Gln)
c.486C>A (p.His162Gln)
c.387C>A (p.His129Gln)
c.1008C>A (p.His336Gln)
c.693C>A (p.His231Gln)
gnomAD v4
14g.24081249_24081250delCA961115974NRLc.701_702del (p.His234ProfsTer13)
c.284_285del (p.His95ProfsTer13)
c.800_801del (p.His267ProfsTer13)
c.485_486del (p.His162ProfsTer13)
c.386_387del (p.His129ProfsTer13)
c.1007_1008del (p.His336ProfsTer13)
c.692_693del (p.His231ProfsTer13)
dbSNP gnomAD v3 gnomAD v4
14g.24081249T>ACA389276039NRLc.701A>T (p.His234Leu)
c.284A>T (p.His95Leu)
c.800A>T (p.His267Leu)
c.485A>T (p.His162Leu)
c.386A>T (p.His129Leu)
c.1007A>T (p.His336Leu)
c.692A>T (p.His231Leu)
gnomAD v4
14g.24081249T>CCA389276040NRLc.701A>G (p.His234Arg)
c.284A>G (p.His95Arg)
c.800A>G (p.His267Arg)
c.485A>G (p.His162Arg)
c.386A>G (p.His129Arg)
c.1007A>G (p.His336Arg)
c.692A>G (p.His231Arg)
gnomAD v4
14g.24081249T>GCA389276043NRLc.701A>C (p.His234Pro)
c.284A>C (p.His95Pro)
c.800A>C (p.His267Pro)
c.485A>C (p.His162Pro)
c.386A>C (p.His129Pro)
c.1007A>C (p.His336Pro)
c.692A>C (p.His231Pro)
gnomAD v4
14g.24081250G>ACA389276050NRLc.700C>T (p.His234Tyr)
c.283C>T (p.His95Tyr)
c.799C>T (p.His267Tyr)
c.484C>T (p.His162Tyr)
c.385C>T (p.His129Tyr)
c.1006C>T (p.His336Tyr)
c.691C>T (p.His231Tyr)
gnomAD v4
14g.24081250G>CCA389276054NRLc.700C>G (p.His234Asp)
c.283C>G (p.His95Asp)
c.799C>G (p.His267Asp)
c.484C>G (p.His162Asp)
c.385C>G (p.His129Asp)
c.1006C>G (p.His336Asp)
c.691C>G (p.His231Asp)
14g.24081250G>TCA389276055NRLc.700C>A (p.His234Asn)
c.283C>A (p.His95Asn)
c.799C>A (p.His267Asn)
c.484C>A (p.His162Asn)
c.385C>A (p.His129Asn)
c.1006C>A (p.His336Asn)
c.691C>A (p.His231Asn)
gnomAD v4
14g.24081252delCA2624297633NRLc.700del (p.His234ThrfsTer?)
c.283del (p.His95ThrfsTer?)
c.799del (p.His267ThrfsTer?)
c.484del (p.His162ThrfsTer?)
c.385del (p.His129ThrfsTer?)
c.1006del (p.His336ThrfsTer?)
c.691del (p.His231ThrfsTer?)
gnomAD v4
14g.24081252_24081264dupCA2624297632NRLc.688_700dup (p.His234ArgfsTer18)
c.271_283dup (p.His95ArgfsTer18)
c.787_799dup (p.His267ArgfsTer18)
c.472_484dup (p.His162ArgfsTer18)
c.373_385dup (p.His129ArgfsTer18)
c.994_1006dup (p.His336ArgfsTer18)
c.679_691dup (p.His231ArgfsTer18)
gnomAD v4
14g.24081251G>ACA485775426NRLc.699C>T (p.Ser233=)
c.282C>T (p.Ser94=)
c.798C>T (p.Ser266=)
c.483C>T (p.Ser161=)
c.384C>T (p.Ser128=)
c.1005C>T (p.Ser335=)
c.690C>T (p.Ser230=)
gnomAD v4
14g.24081251G>CCA485775427NRLc.699C>G (p.Ser233=)
c.282C>G (p.Ser94=)
c.798C>G (p.Ser266=)
c.483C>G (p.Ser161=)
c.384C>G (p.Ser128=)
c.1005C>G (p.Ser335=)
c.690C>G (p.Ser230=)
14g.24081251G>TCA485775428NRLc.699C>A (p.Ser233=)
c.282C>A (p.Ser94=)
c.798C>A (p.Ser266=)
c.483C>A (p.Ser161=)
c.384C>A (p.Ser128=)
c.1005C>A (p.Ser335=)
c.690C>A (p.Ser230=)
gnomAD v4
14g.24081252G>ACA389276066NRLc.698C>T (p.Ser233Phe)
c.281C>T (p.Ser94Phe)
c.797C>T (p.Ser266Phe)
c.482C>T (p.Ser161Phe)
c.383C>T (p.Ser128Phe)
c.1004C>T (p.Ser335Phe)
c.689C>T (p.Ser230Phe)
14g.24081252G>CCA389276061NRLc.698C>G (p.Ser233Cys)
c.281C>G (p.Ser94Cys)
c.797C>G (p.Ser266Cys)
c.482C>G (p.Ser161Cys)
c.383C>G (p.Ser128Cys)
c.1004C>G (p.Ser335Cys)
c.689C>G (p.Ser230Cys)
14g.24081252G>TCA389276062NRLc.698C>A (p.Ser233Tyr)
c.281C>A (p.Ser94Tyr)
c.797C>A (p.Ser266Tyr)
c.482C>A (p.Ser161Tyr)
c.383C>A (p.Ser128Tyr)
c.1004C>A (p.Ser335Tyr)
c.689C>A (p.Ser230Tyr)
gnomAD v4
14g.24081253delCA2624297648NRLc.697del (p.Ser233ProfsTer?)
c.280del (p.Ser94ProfsTer?)
c.796del (p.Ser266ProfsTer?)
c.481del (p.Ser161ProfsTer?)
c.382del (p.Ser128ProfsTer?)
c.1003del (p.Ser335ProfsTer?)
c.688del (p.Ser230ProfsTer?)
gnomAD v4
14g.24081253A>CCA389276068NRLc.697T>G (p.Ser233Ala)
c.280T>G (p.Ser94Ala)
c.796T>G (p.Ser266Ala)
c.481T>G (p.Ser161Ala)
c.382T>G (p.Ser128Ala)
c.1003T>G (p.Ser335Ala)
c.688T>G (p.Ser230Ala)
14g.24081253A>GCA389276070NRLc.697T>C (p.Ser233Pro)
c.280T>C (p.Ser94Pro)
c.796T>C (p.Ser266Pro)
c.481T>C (p.Ser161Pro)
c.382T>C (p.Ser128Pro)
c.1003T>C (p.Ser335Pro)
c.688T>C (p.Ser230Pro)
gnomAD v4
14g.24081253A>TCA389276071NRLc.697T>A (p.Ser233Thr)
c.280T>A (p.Ser94Thr)
c.796T>A (p.Ser266Thr)
c.481T>A (p.Ser161Thr)
c.382T>A (p.Ser128Thr)
c.1003T>A (p.Ser335Thr)
c.688T>A (p.Ser230Thr)
gnomAD v4
14g.24081253_24081254insCACA2624297646NRLc.697_698insGT (p.Ser233CysfsTer?)
c.280_281insGT (p.Ser94CysfsTer?)
c.796_797insGT (p.Ser266CysfsTer?)
c.481_482insGT (p.Ser161CysfsTer?)
c.382_383insGT (p.Ser128CysfsTer?)
c.1003_1004insGT (p.Ser335CysfsTer?)
c.688_689insGT (p.Ser230CysfsTer?)
gnomAD v4
14g.24081254G>ACA485775429NRLc.696C>T (p.Pro232=)
c.279C>T (p.Pro93=)
c.795C>T (p.Pro265=)
c.480C>T (p.Pro160=)
c.381C>T (p.Pro127=)
c.1002C>T (p.Pro334=)
c.687C>T (p.Pro229=)
ClinVar dbSNP gnomAD v4
14g.24081254G>CCA485775430NRLc.696C>G (p.Pro232=)
c.279C>G (p.Pro93=)
c.795C>G (p.Pro265=)
c.480C>G (p.Pro160=)
c.381C>G (p.Pro127=)
c.1002C>G (p.Pro334=)
c.687C>G (p.Pro229=)
14g.24081254G=CA2123777174NRLc.696C= (p.Pro232=)
c.279C= (p.Pro93=)
c.795C= (p.Pro265=)
c.480C= (p.Pro160=)
c.381C= (p.Pro127=)
c.1002C= (p.Pro334=)
c.687C= (p.Pro229=)
14g.24081254G>TCA485775431NRLc.696C>A (p.Pro232=)
c.279C>A (p.Pro93=)
c.795C>A (p.Pro265=)
c.480C>A (p.Pro160=)
c.381C>A (p.Pro127=)
c.1002C>A (p.Pro334=)
c.687C>A (p.Pro229=)
gnomAD v4
14g.24081255G>ACA389276073NRLc.695C>T (p.Pro232Leu)
c.278C>T (p.Pro93Leu)
c.794C>T (p.Pro265Leu)
c.479C>T (p.Pro160Leu)
c.380C>T (p.Pro127Leu)
c.1001C>T (p.Pro334Leu)
c.686C>T (p.Pro229Leu)
gnomAD v4
14g.24081255G>CCA389276074NRLc.695C>G (p.Pro232Arg)
c.278C>G (p.Pro93Arg)
c.794C>G (p.Pro265Arg)
c.479C>G (p.Pro160Arg)
c.380C>G (p.Pro127Arg)
c.1001C>G (p.Pro334Arg)
c.686C>G (p.Pro229Arg)
14g.24081255G>TCA389276078NRLc.695C>A (p.Pro232His)
c.278C>A (p.Pro93His)
c.794C>A (p.Pro265His)
c.479C>A (p.Pro160His)
c.380C>A (p.Pro127His)
c.1001C>A (p.Pro334His)
c.686C>A (p.Pro229His)
gnomAD v4
14g.24081255_24081268delinsGGGTCCCCGGACCCCA2123777181NRLc.682_695delinsGGGTCCGGGGACCC (p.Gly228=)
c.265_278delinsGGGTCCGGGGACCC (p.Gly89=)
c.781_794delinsGGGTCCGGGGACCC (p.Gly261=)
c.466_479delinsGGGTCCGGGGACCC (p.Gly156=)
c.367_380delinsGGGTCCGGGGACCC (p.Gly123=)
c.988_1001delinsGGGTCCGGGGACCC (p.Gly330=)
c.673_686delinsGGGTCCGGGGACCC (p.Gly225=)
14g.24081256G>ACA389276085NRLc.694C>T (p.Pro232Ser)
c.277C>T (p.Pro93Ser)
c.793C>T (p.Pro265Ser)
c.478C>T (p.Pro160Ser)
c.379C>T (p.Pro127Ser)
c.1000C>T (p.Pro334Ser)
c.685C>T (p.Pro229Ser)
gnomAD v4
14g.24081256G>CCA389276083NRLc.694C>G (p.Pro232Ala)
c.277C>G (p.Pro93Ala)
c.793C>G (p.Pro265Ala)
c.478C>G (p.Pro160Ala)
c.379C>G (p.Pro127Ala)
c.1000C>G (p.Pro334Ala)
c.685C>G (p.Pro229Ala)
gnomAD v4
14g.24081256G>TCA389276084NRLc.694C>A (p.Pro232Thr)
c.277C>A (p.Pro93Thr)
c.793C>A (p.Pro265Thr)
c.478C>A (p.Pro160Thr)
c.379C>A (p.Pro127Thr)
c.1000C>A (p.Pro334Thr)
c.685C>A (p.Pro229Thr)
gnomAD v4
14g.24081258_24081270delCA961115980NRLc.682_694del (p.Gly228ProfsTer?)
c.265_277del (p.Gly89ProfsTer?)
c.781_793del (p.Gly261ProfsTer?)
c.466_478del (p.Gly156ProfsTer?)
c.367_379del (p.Gly123ProfsTer?)
c.988_1000del (p.Gly330ProfsTer?)
c.673_685del (p.Gly225ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
14g.24081257G>ACA257868037NRLc.693C>T (p.Asp231=)
c.276C>T (p.Asp92=)
c.792C>T (p.Asp264=)
c.477C>T (p.Asp159=)
c.378C>T (p.Asp126=)
c.999C>T (p.Asp333=)
c.684C>T (p.Asp228=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081257G>CCA389276086NRLc.693C>G (p.Asp231Glu)
c.276C>G (p.Asp92Glu)
c.792C>G (p.Asp264Glu)
c.477C>G (p.Asp159Glu)
c.378C>G (p.Asp126Glu)
c.999C>G (p.Asp333Glu)
c.684C>G (p.Asp228Glu)
ClinVar gnomAD v4
14g.24081257G=CA2123777187NRLc.693C= (p.Asp231=)
c.276C= (p.Asp92=)
c.792C= (p.Asp264=)
c.477C= (p.Asp159=)
c.378C= (p.Asp126=)
c.999C= (p.Asp333=)
c.684C= (p.Asp228=)
14g.24081257G>TCA389276088NRLc.693C>A (p.Asp231Glu)
c.276C>A (p.Asp92Glu)
c.792C>A (p.Asp264Glu)
c.477C>A (p.Asp159Glu)
c.378C>A (p.Asp126Glu)
c.999C>A (p.Asp333Glu)
c.684C>A (p.Asp228Glu)
gnomAD v4
14g.24081258T>ACA389276092NRLc.692A>T (p.Asp231Val)
c.275A>T (p.Asp92Val)
c.791A>T (p.Asp264Val)
c.476A>T (p.Asp159Val)
c.377A>T (p.Asp126Val)
c.998A>T (p.Asp333Val)
c.683A>T (p.Asp228Val)
gnomAD v4
14g.24081258T>CCA389276095NRLc.692A>G (p.Asp231Gly)
c.275A>G (p.Asp92Gly)
c.791A>G (p.Asp264Gly)
c.476A>G (p.Asp159Gly)
c.377A>G (p.Asp126Gly)
c.998A>G (p.Asp333Gly)
c.683A>G (p.Asp228Gly)
gnomAD v4
14g.24081258T>GCA389276098NRLc.692A>C (p.Asp231Ala)
c.275A>C (p.Asp92Ala)
c.791A>C (p.Asp264Ala)
c.476A>C (p.Asp159Ala)
c.377A>C (p.Asp126Ala)
c.998A>C (p.Asp333Ala)
c.683A>C (p.Asp228Ala)
14g.24081258_24081259delinsTCCA2123777193NRLc.691_692delinsGA (p.Asp231=)
c.274_275delinsGA (p.Asp92=)
c.790_791delinsGA (p.Asp264=)
c.475_476delinsGA (p.Asp159=)
c.376_377delinsGA (p.Asp126=)
c.997_998delinsGA (p.Asp333=)
c.682_683delinsGA (p.Asp228=)
14g.24081259C>ACA389276103NRLc.691G>T (p.Asp231Tyr)
c.274G>T (p.Asp92Tyr)
c.790G>T (p.Asp264Tyr)
c.475G>T (p.Asp159Tyr)
c.376G>T (p.Asp126Tyr)
c.997G>T (p.Asp333Tyr)
c.682G>T (p.Asp228Tyr)
gnomAD v4
14g.24081259C=CA2123777199NRLc.691G= (p.Asp231=)
c.274G= (p.Asp92=)
c.790G= (p.Asp264=)
c.475G= (p.Asp159=)
c.376G= (p.Asp126=)
c.997G= (p.Asp333=)
c.682G= (p.Asp228=)
14g.24081259C>GCA389276107NRLc.691G>C (p.Asp231His)
c.274G>C (p.Asp92His)
c.790G>C (p.Asp264His)
c.475G>C (p.Asp159His)
c.376G>C (p.Asp126His)
c.997G>C (p.Asp333His)
c.682G>C (p.Asp228His)
gnomAD v4
14g.24081259C>TCA7122812NRLc.691G>A (p.Asp231Asn)
c.274G>A (p.Asp92Asn)
c.790G>A (p.Asp264Asn)
c.475G>A (p.Asp159Asn)
c.376G>A (p.Asp126Asn)
c.997G>A (p.Asp333Asn)
c.682G>A (p.Asp228Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081262delCA613319078NRLc.691del (p.Asp231ThrfsTer?)
c.274del (p.Asp92ThrfsTer?)
c.790del (p.Asp264ThrfsTer?)
c.475del (p.Asp159ThrfsTer?)
c.376del (p.Asp126ThrfsTer?)
c.997del (p.Asp333ThrfsTer?)
c.682del (p.Asp228ThrfsTer?)
dbSNP gnomAD v2 gnomAD v4
14g.24081260C>ACA485775432NRLc.690G>T (p.Gly230=)
c.273G>T (p.Gly91=)
c.789G>T (p.Gly263=)
c.474G>T (p.Gly158=)
c.375G>T (p.Gly125=)
c.996G>T (p.Gly332=)
c.681G>T (p.Gly227=)
gnomAD v4
14g.24081260C>GCA485775433NRLc.690G>C (p.Gly230=)
c.273G>C (p.Gly91=)
c.789G>C (p.Gly263=)
c.474G>C (p.Gly158=)
c.375G>C (p.Gly125=)
c.996G>C (p.Gly332=)
c.681G>C (p.Gly227=)
14g.24081260C>TCA485775434NRLc.690G>A (p.Gly230=)
c.273G>A (p.Gly91=)
c.789G>A (p.Gly263=)
c.474G>A (p.Gly158=)
c.375G>A (p.Gly125=)
c.996G>A (p.Gly332=)
c.681G>A (p.Gly227=)
gnomAD v4
14g.24081261C>ACA389276109NRLc.689G>T (p.Gly230Val)
c.272G>T (p.Gly91Val)
c.788G>T (p.Gly263Val)
c.473G>T (p.Gly158Val)
c.374G>T (p.Gly125Val)
c.995G>T (p.Gly332Val)
c.680G>T (p.Gly227Val)
gnomAD v4
14g.24081261C=CA2123777203NRLc.689G= (p.Gly230=)
c.272G= (p.Gly91=)
c.788G= (p.Gly263=)
c.473G= (p.Gly158=)
c.374G= (p.Gly125=)
c.995G= (p.Gly332=)
c.680G= (p.Gly227=)
14g.24081261C>GCA389276113NRLc.689G>C (p.Gly230Ala)
c.272G>C (p.Gly91Ala)
c.788G>C (p.Gly263Ala)
c.473G>C (p.Gly158Ala)
c.374G>C (p.Gly125Ala)
c.995G>C (p.Gly332Ala)
c.680G>C (p.Gly227Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081261C>TCA389276115NRLc.689G>A (p.Gly230Glu)
c.272G>A (p.Gly91Glu)
c.788G>A (p.Gly263Glu)
c.473G>A (p.Gly158Glu)
c.374G>A (p.Gly125Glu)
c.995G>A (p.Gly332Glu)
c.680G>A (p.Gly227Glu)
gnomAD v4
14g.24081262C>ACA389276126NRLc.688G>T (p.Gly230Trp)
c.271G>T (p.Gly91Trp)
c.787G>T (p.Gly263Trp)
c.472G>T (p.Gly158Trp)
c.373G>T (p.Gly125Trp)
c.994G>T (p.Gly332Trp)
c.679G>T (p.Gly227Trp)
gnomAD v4
14g.24081262C=CA2123777205NRLc.688G= (p.Gly230=)
c.271G= (p.Gly91=)
c.787G= (p.Gly263=)
c.472G= (p.Gly158=)
c.373G= (p.Gly125=)
c.994G= (p.Gly332=)
c.679G= (p.Gly227=)
14g.24081262C>GCA389276129NRLc.688G>C (p.Gly230Arg)
c.271G>C (p.Gly91Arg)
c.787G>C (p.Gly263Arg)
c.472G>C (p.Gly158Arg)
c.373G>C (p.Gly125Arg)
c.994G>C (p.Gly332Arg)
c.679G>C (p.Gly227Arg)
dbSNP gnomAD v2 gnomAD v4
14g.24081262C>TCA389276131NRLc.688G>A (p.Gly230Arg)
c.271G>A (p.Gly91Arg)
c.787G>A (p.Gly263Arg)
c.472G>A (p.Gly158Arg)
c.373G>A (p.Gly125Arg)
c.994G>A (p.Gly332Arg)
c.679G>A (p.Gly227Arg)
gnomAD v4
14g.24081263G>ACA7122813NRLc.687C>T (p.Ser229=)
c.270C>T (p.Ser90=)
c.786C>T (p.Ser262=)
c.471C>T (p.Ser157=)
c.372C>T (p.Ser124=)
c.993C>T (p.Ser331=)
c.678C>T (p.Ser226=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081263G>CCA485775435NRLc.687C>G (p.Ser229=)
c.270C>G (p.Ser90=)
c.786C>G (p.Ser262=)
c.471C>G (p.Ser157=)
c.372C>G (p.Ser124=)
c.993C>G (p.Ser331=)
c.678C>G (p.Ser226=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081263G=CA2123777211NRLc.687C= (p.Ser229=)
c.270C= (p.Ser90=)
c.786C= (p.Ser262=)
c.471C= (p.Ser157=)
c.372C= (p.Ser124=)
c.993C= (p.Ser331=)
c.678C= (p.Ser226=)
14g.24081263G>TCA485775436NRLc.687C>A (p.Ser229=)
c.270C>A (p.Ser90=)
c.786C>A (p.Ser262=)
c.471C>A (p.Ser157=)
c.372C>A (p.Ser124=)
c.993C>A (p.Ser331=)
c.678C>A (p.Ser226=)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24081264G>ACA389276134NRLc.686C>T (p.Ser229Phe)
c.269C>T (p.Ser90Phe)
c.785C>T (p.Ser262Phe)
c.470C>T (p.Ser157Phe)
c.371C>T (p.Ser124Phe)
c.992C>T (p.Ser331Phe)
c.677C>T (p.Ser226Phe)
gnomAD v4
14g.24081264G>CCA389276136NRLc.686C>G (p.Ser229Cys)
c.269C>G (p.Ser90Cys)
c.785C>G (p.Ser262Cys)
c.470C>G (p.Ser157Cys)
c.371C>G (p.Ser124Cys)
c.992C>G (p.Ser331Cys)
c.677C>G (p.Ser226Cys)
14g.24081264G>TCA389276141NRLc.686C>A (p.Ser229Tyr)
c.269C>A (p.Ser90Tyr)
c.785C>A (p.Ser262Tyr)
c.470C>A (p.Ser157Tyr)
c.371C>A (p.Ser124Tyr)
c.992C>A (p.Ser331Tyr)
c.677C>A (p.Ser226Tyr)
gnomAD v4
14g.24081265A=CA2123777216NRLc.685T= (p.Ser229=)
c.268T= (p.Ser90=)
c.784T= (p.Ser262=)
c.469T= (p.Ser157=)
c.370T= (p.Ser124=)
c.991T= (p.Ser331=)
c.676T= (p.Ser226=)
14g.24081265A>CCA389276146NRLc.685T>G (p.Ser229Ala)
c.268T>G (p.Ser90Ala)
c.784T>G (p.Ser262Ala)
c.469T>G (p.Ser157Ala)
c.370T>G (p.Ser124Ala)
c.991T>G (p.Ser331Ala)
c.676T>G (p.Ser226Ala)
dbSNP
14g.24081265A>GCA389276149NRLc.685T>C (p.Ser229Pro)
c.268T>C (p.Ser90Pro)
c.784T>C (p.Ser262Pro)
c.469T>C (p.Ser157Pro)
c.370T>C (p.Ser124Pro)
c.991T>C (p.Ser331Pro)
c.676T>C (p.Ser226Pro)
gnomAD v4
14g.24081265A>TCA389276161NRLc.685T>A (p.Ser229Thr)
c.268T>A (p.Ser90Thr)
c.784T>A (p.Ser262Thr)
c.469T>A (p.Ser157Thr)
c.370T>A (p.Ser124Thr)
c.991T>A (p.Ser331Thr)
c.676T>A (p.Ser226Thr)
14g.24081266C>ACA485775437NRLc.684G>T (p.Gly228=)
c.267G>T (p.Gly89=)
c.783G>T (p.Gly261=)
c.468G>T (p.Gly156=)
c.369G>T (p.Gly123=)
c.990G>T (p.Gly330=)
c.675G>T (p.Gly225=)
gnomAD v4
14g.24081266C>GCA485775439NRLc.684G>C (p.Gly228=)
c.267G>C (p.Gly89=)
c.783G>C (p.Gly261=)
c.468G>C (p.Gly156=)
c.369G>C (p.Gly123=)
c.990G>C (p.Gly330=)
c.675G>C (p.Gly225=)
gnomAD v4
14g.24081266C>TCA485775438NRLc.684G>A (p.Gly228=)
c.267G>A (p.Gly89=)
c.783G>A (p.Gly261=)
c.468G>A (p.Gly156=)
c.369G>A (p.Gly123=)
c.990G>A (p.Gly330=)
c.675G>A (p.Gly225=)
ClinVar dbSNP gnomAD v4
14g.24081268delCA2624297730NRLc.684del (p.Ser229ProfsTer?)
c.267del (p.Ser90ProfsTer?)
c.783del (p.Ser262ProfsTer?)
c.468del (p.Ser157ProfsTer?)
c.369del (p.Ser124ProfsTer?)
c.990del (p.Ser331ProfsTer?)
c.675del (p.Ser226ProfsTer?)
gnomAD v4
14g.24081267C>ACA389276181NRLc.683G>T (p.Gly228Val)
c.266G>T (p.Gly89Val)
c.782G>T (p.Gly261Val)
c.467G>T (p.Gly156Val)
c.368G>T (p.Gly123Val)
c.989G>T (p.Gly330Val)
c.674G>T (p.Gly225Val)
gnomAD v4
14g.24081267C=CA2123777221NRLc.683G= (p.Gly228=)
c.266G= (p.Gly89=)
c.782G= (p.Gly261=)
c.467G= (p.Gly156=)
c.368G= (p.Gly123=)
c.989G= (p.Gly330=)
c.674G= (p.Gly225=)
14g.24081267C>GCA389276165NRLc.683G>C (p.Gly228Ala)
c.266G>C (p.Gly89Ala)
c.782G>C (p.Gly261Ala)
c.467G>C (p.Gly156Ala)
c.368G>C (p.Gly123Ala)
c.989G>C (p.Gly330Ala)
c.674G>C (p.Gly225Ala)
14g.24081267C>TCA7122814NRLc.683G>A (p.Gly228Glu)
c.266G>A (p.Gly89Glu)
c.782G>A (p.Gly261Glu)
c.467G>A (p.Gly156Glu)
c.368G>A (p.Gly123Glu)
c.989G>A (p.Gly330Glu)
c.674G>A (p.Gly225Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081268C>ACA389276187NRLc.682G>T (p.Gly228Trp)
c.265G>T (p.Gly89Trp)
c.781G>T (p.Gly261Trp)
c.466G>T (p.Gly156Trp)
c.367G>T (p.Gly123Trp)
c.988G>T (p.Gly330Trp)
c.673G>T (p.Gly225Trp)
gnomAD v4
14g.24081268C=CA2123777226NRLc.682G= (p.Gly228=)
c.265G= (p.Gly89=)
c.781G= (p.Gly261=)
c.466G= (p.Gly156=)
c.367G= (p.Gly123=)
c.988G= (p.Gly330=)
c.673G= (p.Gly225=)
14g.24081268C>GCA389276189NRLc.682G>C (p.Gly228Arg)
c.265G>C (p.Gly89Arg)
c.781G>C (p.Gly261Arg)
c.466G>C (p.Gly156Arg)
c.367G>C (p.Gly123Arg)
c.988G>C (p.Gly330Arg)
c.673G>C (p.Gly225Arg)
gnomAD v4
14g.24081268C>TCA389276191NRLc.682G>A (p.Gly228Arg)
c.265G>A (p.Gly89Arg)
c.781G>A (p.Gly261Arg)
c.466G>A (p.Gly156Arg)
c.367G>A (p.Gly123Arg)
c.988G>A (p.Gly330Arg)
c.673G>A (p.Gly225Arg)
dbSNP gnomAD v2 gnomAD v4
14g.24081269G>ACA485775440NRLc.681C>T (p.Pro227=)
c.264C>T (p.Pro88=)
c.780C>T (p.Pro260=)
c.465C>T (p.Pro155=)
c.366C>T (p.Pro122=)
c.987C>T (p.Pro329=)
c.672C>T (p.Pro224=)
gnomAD v4
14g.24081269G>CCA485775441NRLc.681C>G (p.Pro227=)
c.264C>G (p.Pro88=)
c.780C>G (p.Pro260=)
c.465C>G (p.Pro155=)
c.366C>G (p.Pro122=)
c.987C>G (p.Pro329=)
c.672C>G (p.Pro224=)
gnomAD v4
14g.24081269G>TCA485775442NRLc.681C>A (p.Pro227=)
c.264C>A (p.Pro88=)
c.780C>A (p.Pro260=)
c.465C>A (p.Pro155=)
c.366C>A (p.Pro122=)
c.987C>A (p.Pro329=)
c.672C>A (p.Pro224=)
gnomAD v4
14g.24081272delCA613319079NRLc.681del (p.Ser229ProfsTer?)
c.264del (p.Ser90ProfsTer?)
c.780del (p.Ser262ProfsTer?)
c.465del (p.Ser157ProfsTer?)
c.366del (p.Ser124ProfsTer?)
c.987del (p.Ser331ProfsTer?)
c.672del (p.Ser226ProfsTer?)
gnomAD v2 gnomAD v4
14g.24081270G>ACA389276193NRLc.680C>T (p.Pro227Leu)
c.263C>T (p.Pro88Leu)
c.779C>T (p.Pro260Leu)
c.464C>T (p.Pro155Leu)
c.365C>T (p.Pro122Leu)
c.986C>T (p.Pro329Leu)
c.671C>T (p.Pro224Leu)
gnomAD v4
14g.24081270G>CCA389276194NRLc.680C>G (p.Pro227Arg)
c.263C>G (p.Pro88Arg)
c.779C>G (p.Pro260Arg)
c.464C>G (p.Pro155Arg)
c.365C>G (p.Pro122Arg)
c.986C>G (p.Pro329Arg)
c.671C>G (p.Pro224Arg)
14g.24081270G>TCA389276196NRLc.680C>A (p.Pro227His)
c.263C>A (p.Pro88His)
c.779C>A (p.Pro260His)
c.464C>A (p.Pro155His)
c.365C>A (p.Pro122His)
c.986C>A (p.Pro329His)
c.671C>A (p.Pro224His)
gnomAD v4
14g.24081271G>ACA389276202NRLc.679C>T (p.Pro227Ser)
c.262C>T (p.Pro88Ser)
c.778C>T (p.Pro260Ser)
c.463C>T (p.Pro155Ser)
c.364C>T (p.Pro122Ser)
c.985C>T (p.Pro329Ser)
c.670C>T (p.Pro224Ser)
gnomAD v4
14g.24081271G>CCA389276203NRLc.679C>G (p.Pro227Ala)
c.262C>G (p.Pro88Ala)
c.778C>G (p.Pro260Ala)
c.463C>G (p.Pro155Ala)
c.364C>G (p.Pro122Ala)
c.985C>G (p.Pro329Ala)
c.670C>G (p.Pro224Ala)
14g.24081271G>TCA389276207NRLc.679C>A (p.Pro227Thr)
c.262C>A (p.Pro88Thr)
c.778C>A (p.Pro260Thr)
c.463C>A (p.Pro155Thr)
c.364C>A (p.Pro122Thr)
c.985C>A (p.Pro329Thr)
c.670C>A (p.Pro224Thr)
gnomAD v4
14g.24081272G>ACA485775443NRLc.678C>T (p.Gly226=)
c.261C>T (p.Gly87=)
c.777C>T (p.Gly259=)
c.462C>T (p.Gly154=)
c.363C>T (p.Gly121=)
c.984C>T (p.Gly328=)
c.669C>T (p.Gly223=)
dbSNP gnomAD v2 gnomAD v4
14g.24081272G>CCA485775444NRLc.678C>G (p.Gly226=)
c.261C>G (p.Gly87=)
c.777C>G (p.Gly259=)
c.462C>G (p.Gly154=)
c.363C>G (p.Gly121=)
c.984C>G (p.Gly328=)
c.669C>G (p.Gly223=)
gnomAD v4
14g.24081272G=CA2123777229NRLc.678C= (p.Gly226=)
c.261C= (p.Gly87=)
c.777C= (p.Gly259=)
c.462C= (p.Gly154=)
c.363C= (p.Gly121=)
c.984C= (p.Gly328=)
c.669C= (p.Gly223=)
14g.24081272G>TCA485775445NRLc.678C>A (p.Gly226=)
c.261C>A (p.Gly87=)
c.777C>A (p.Gly259=)
c.462C>A (p.Gly154=)
c.363C>A (p.Gly121=)
c.984C>A (p.Gly328=)
c.669C>A (p.Gly223=)
gnomAD v4
14g.24081273C>ACA389276210NRLc.677G>T (p.Gly226Val)
c.260G>T (p.Gly87Val)
c.776G>T (p.Gly259Val)
c.461G>T (p.Gly154Val)
c.362G>T (p.Gly121Val)
c.983G>T (p.Gly328Val)
c.668G>T (p.Gly223Val)
ClinVar dbSNP gnomAD v4
14g.24081273C=CA2123777235NRLc.677G= (p.Gly226=)
c.260G= (p.Gly87=)
c.776G= (p.Gly259=)
c.461G= (p.Gly154=)
c.362G= (p.Gly121=)
c.983G= (p.Gly328=)
c.668G= (p.Gly223=)
14g.24081273C>GCA389276213NRLc.677G>C (p.Gly226Ala)
c.260G>C (p.Gly87Ala)
c.776G>C (p.Gly259Ala)
c.461G>C (p.Gly154Ala)
c.362G>C (p.Gly121Ala)
c.983G>C (p.Gly328Ala)
c.668G>C (p.Gly223Ala)
14g.24081273C>TCA389276214NRLc.677G>A (p.Gly226Asp)
c.260G>A (p.Gly87Asp)
c.776G>A (p.Gly259Asp)
c.461G>A (p.Gly154Asp)
c.362G>A (p.Gly121Asp)
c.983G>A (p.Gly328Asp)
c.668G>A (p.Gly223Asp)
dbSNP gnomAD v2 gnomAD v4
14g.24081274C>ACA389276216NRLc.676G>T (p.Gly226Cys)
c.259G>T (p.Gly87Cys)
c.775G>T (p.Gly259Cys)
c.460G>T (p.Gly154Cys)
c.361G>T (p.Gly121Cys)
c.982G>T (p.Gly328Cys)
c.667G>T (p.Gly223Cys)
gnomAD v4
14g.24081274C=CA2123777236NRLc.676G= (p.Gly226=)
c.259G= (p.Gly87=)
c.775G= (p.Gly259=)
c.460G= (p.Gly154=)
c.361G= (p.Gly121=)
c.982G= (p.Gly328=)
c.667G= (p.Gly223=)
14g.24081274C>GCA389276219NRLc.676G>C (p.Gly226Arg)
c.259G>C (p.Gly87Arg)
c.775G>C (p.Gly259Arg)
c.460G>C (p.Gly154Arg)
c.361G>C (p.Gly121Arg)
c.982G>C (p.Gly328Arg)
c.667G>C (p.Gly223Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081274C>TCA389276217NRLc.676G>A (p.Gly226Ser)
c.259G>A (p.Gly87Ser)
c.775G>A (p.Gly259Ser)
c.460G>A (p.Gly154Ser)
c.361G>A (p.Gly121Ser)
c.982G>A (p.Gly328Ser)
c.667G>A (p.Gly223Ser)
dbSNP gnomAD v4
14g.24081275G>ACA7122815NRLc.675C>T (p.Ser225=)
c.258C>T (p.Ser86=)
c.774C>T (p.Ser258=)
c.459C>T (p.Ser153=)
c.360C>T (p.Ser120=)
c.981C>T (p.Ser327=)
c.666C>T (p.Ser222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081275G>CCA389276225NRLc.675C>G (p.Ser225Arg)
c.258C>G (p.Ser86Arg)
c.774C>G (p.Ser258Arg)
c.459C>G (p.Ser153Arg)
c.360C>G (p.Ser120Arg)
c.981C>G (p.Ser327Arg)
c.666C>G (p.Ser222Arg)
14g.24081275G=CA2123777240NRLc.675C= (p.Ser225=)
c.258C= (p.Ser86=)
c.774C= (p.Ser258=)
c.459C= (p.Ser153=)
c.360C= (p.Ser120=)
c.981C= (p.Ser327=)
c.666C= (p.Ser222=)
14g.24081275G>TCA389276224NRLc.675C>A (p.Ser225Arg)
c.258C>A (p.Ser86Arg)
c.774C>A (p.Ser258Arg)
c.459C>A (p.Ser153Arg)
c.360C>A (p.Ser120Arg)
c.981C>A (p.Ser327Arg)
c.666C>A (p.Ser222Arg)
gnomAD v4
14g.24081276C>ACA389276226NRLc.674G>T (p.Ser225Ile)
c.257G>T (p.Ser86Ile)
c.773G>T (p.Ser258Ile)
c.458G>T (p.Ser153Ile)
c.359G>T (p.Ser120Ile)
c.980G>T (p.Ser327Ile)
c.665G>T (p.Ser222Ile)
gnomAD v4
14g.24081276C=CA2123777248NRLc.674G= (p.Ser225=)
c.257G= (p.Ser86=)
c.773G= (p.Ser258=)
c.458G= (p.Ser153=)
c.359G= (p.Ser120=)
c.980G= (p.Ser327=)
c.665G= (p.Ser222=)
14g.24081276C>GCA389276227NRLc.674G>C (p.Ser225Thr)
c.257G>C (p.Ser86Thr)
c.773G>C (p.Ser258Thr)
c.458G>C (p.Ser153Thr)
c.359G>C (p.Ser120Thr)
c.980G>C (p.Ser327Thr)
c.665G>C (p.Ser222Thr)
14g.24081276C>TCA389276228NRLc.674G>A (p.Ser225Asn)
c.257G>A (p.Ser86Asn)
c.773G>A (p.Ser258Asn)
c.458G>A (p.Ser153Asn)
c.359G>A (p.Ser120Asn)
c.980G>A (p.Ser327Asn)
c.665G>A (p.Ser222Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081277T>ACA389276234NRLc.673A>T (p.Ser225Cys)
c.256A>T (p.Ser86Cys)
c.772A>T (p.Ser258Cys)
c.457A>T (p.Ser153Cys)
c.358A>T (p.Ser120Cys)
c.979A>T (p.Ser327Cys)
c.664A>T (p.Ser222Cys)
14g.24081277T>CCA389276237NRLc.673A>G (p.Ser225Gly)
c.256A>G (p.Ser86Gly)
c.772A>G (p.Ser258Gly)
c.457A>G (p.Ser153Gly)
c.358A>G (p.Ser120Gly)
c.979A>G (p.Ser327Gly)
c.664A>G (p.Ser222Gly)
gnomAD v4
14g.24081277T>GCA389276240NRLc.673A>C (p.Ser225Arg)
c.256A>C (p.Ser86Arg)
c.772A>C (p.Ser258Arg)
c.457A>C (p.Ser153Arg)
c.358A>C (p.Ser120Arg)
c.979A>C (p.Ser327Arg)
c.664A>C (p.Ser222Arg)
14g.24081277_24081278insACA2800892056NRLc.672_673insT (p.Ser225Ter)
c.255_256insT (p.Ser86Ter)
c.771_772insT (p.Ser258Ter)
c.456_457insT (p.Ser153Ter)
c.357_358insT (p.Ser120Ter)
c.978_979insT (p.Ser327Ter)
c.663_664insT (p.Ser222Ter)
14g.24081278C>ACA485775446NRLc.672G>T (p.Ser224=)
c.255G>T (p.Ser85=)
c.771G>T (p.Ser257=)
c.456G>T (p.Ser152=)
c.357G>T (p.Ser119=)
c.978G>T (p.Ser326=)
c.663G>T (p.Ser221=)
gnomAD v4
14g.24081278C=CA2123777251NRLc.672G= (p.Ser224=)
c.255G= (p.Ser85=)
c.771G= (p.Ser257=)
c.456G= (p.Ser152=)
c.357G= (p.Ser119=)
c.978G= (p.Ser326=)
c.663G= (p.Ser221=)
14g.24081278C>GCA485775447NRLc.672G>C (p.Ser224=)
c.255G>C (p.Ser85=)
c.771G>C (p.Ser257=)
c.456G>C (p.Ser152=)
c.357G>C (p.Ser119=)
c.978G>C (p.Ser326=)
c.663G>C (p.Ser221=)
dbSNP
14g.24081278C>TCA485775448NRLc.672G>A (p.Ser224=)
c.255G>A (p.Ser85=)
c.771G>A (p.Ser257=)
c.456G>A (p.Ser152=)
c.357G>A (p.Ser119=)
c.978G>A (p.Ser326=)
c.663G>A (p.Ser221=)
14g.24081279G>ACA389276243NRLc.671C>T (p.Ser224Leu)
c.254C>T (p.Ser85Leu)
c.770C>T (p.Ser257Leu)
c.455C>T (p.Ser152Leu)
c.356C>T (p.Ser119Leu)
c.977C>T (p.Ser326Leu)
c.662C>T (p.Ser221Leu)
gnomAD v4
14g.24081279G>CCA389276245NRLc.671C>G (p.Ser224Trp)
c.254C>G (p.Ser85Trp)
c.770C>G (p.Ser257Trp)
c.455C>G (p.Ser152Trp)
c.356C>G (p.Ser119Trp)
c.977C>G (p.Ser326Trp)
c.662C>G (p.Ser221Trp)
ClinVar
14g.24081279G=CA2123777257NRLc.671C= (p.Ser224=)
c.254C= (p.Ser85=)
c.770C= (p.Ser257=)
c.455C= (p.Ser152=)
c.356C= (p.Ser119=)
c.977C= (p.Ser326=)
c.662C= (p.Ser221=)
14g.24081279G>TCA389276253NRLc.671C>A (p.Ser224Ter)
c.254C>A (p.Ser85Ter)
c.770C>A (p.Ser257Ter)
c.455C>A (p.Ser152Ter)
c.356C>A (p.Ser119Ter)
c.977C>A (p.Ser326Ter)
c.662C>A (p.Ser221Ter)
dbSNP gnomAD v2 gnomAD v4
14g.24081280A=CA2123777258NRLc.670T= (p.Ser224=)
c.253T= (p.Ser85=)
c.769T= (p.Ser257=)
c.454T= (p.Ser152=)
c.355T= (p.Ser119=)
c.976T= (p.Ser326=)
c.661T= (p.Ser221=)
14g.24081280A>CCA389276257NRLc.670T>G (p.Ser224Ala)
c.253T>G (p.Ser85Ala)
c.769T>G (p.Ser257Ala)
c.454T>G (p.Ser152Ala)
c.355T>G (p.Ser119Ala)
c.976T>G (p.Ser326Ala)
c.661T>G (p.Ser221Ala)
dbSNP gnomAD v3 gnomAD v4
14g.24081280A>GCA389276271NRLc.670T>C (p.Ser224Pro)
c.253T>C (p.Ser85Pro)
c.769T>C (p.Ser257Pro)
c.454T>C (p.Ser152Pro)
c.355T>C (p.Ser119Pro)
c.976T>C (p.Ser326Pro)
c.661T>C (p.Ser221Pro)
gnomAD v4
14g.24081280A>TCA389276273NRLc.670T>A (p.Ser224Thr)
c.253T>A (p.Ser85Thr)
c.769T>A (p.Ser257Thr)
c.454T>A (p.Ser152Thr)
c.355T>A (p.Ser119Thr)
c.976T>A (p.Ser326Thr)
c.661T>A (p.Ser221Thr)
gnomAD v4
14g.24081281G>ACA485775449NRLc.669C>T (p.Thr223=)
c.252C>T (p.Thr84=)
c.768C>T (p.Thr256=)
c.453C>T (p.Thr151=)
c.354C>T (p.Thr118=)
c.975C>T (p.Thr325=)
c.660C>T (p.Thr220=)
dbSNP gnomAD v4
14g.24081281G>CCA485775450NRLc.669C>G (p.Thr223=)
c.252C>G (p.Thr84=)
c.768C>G (p.Thr256=)
c.453C>G (p.Thr151=)
c.354C>G (p.Thr118=)
c.975C>G (p.Thr325=)
c.660C>G (p.Thr220=)
14g.24081281G=CA2123777261NRLc.669C= (p.Thr223=)
c.252C= (p.Thr84=)
c.768C= (p.Thr256=)
c.453C= (p.Thr151=)
c.354C= (p.Thr118=)
c.975C= (p.Thr325=)
c.660C= (p.Thr220=)
14g.24081281G>TCA485775451NRLc.669C>A (p.Thr223=)
c.252C>A (p.Thr84=)
c.768C>A (p.Thr256=)
c.453C>A (p.Thr151=)
c.354C>A (p.Thr118=)
c.975C>A (p.Thr325=)
c.660C>A (p.Thr220=)
gnomAD v4
14g.24081282G>ACA7122816NRLc.668C>T (p.Thr223Ile)
c.251C>T (p.Thr84Ile)
c.767C>T (p.Thr256Ile)
c.452C>T (p.Thr151Ile)
c.353C>T (p.Thr118Ile)
c.974C>T (p.Thr325Ile)
c.659C>T (p.Thr220Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081282G>CCA389276274NRLc.668C>G (p.Thr223Ser)
c.251C>G (p.Thr84Ser)
c.767C>G (p.Thr256Ser)
c.452C>G (p.Thr151Ser)
c.353C>G (p.Thr118Ser)
c.974C>G (p.Thr325Ser)
c.659C>G (p.Thr220Ser)
gnomAD v4
14g.24081282G=CA2123777269NRLc.668C= (p.Thr223=)
c.251C= (p.Thr84=)
c.767C= (p.Thr256=)
c.452C= (p.Thr151=)
c.353C= (p.Thr118=)
c.974C= (p.Thr325=)
c.659C= (p.Thr220=)
14g.24081282G>TCA389276275NRLc.668C>A (p.Thr223Asn)
c.251C>A (p.Thr84Asn)
c.767C>A (p.Thr256Asn)
c.452C>A (p.Thr151Asn)
c.353C>A (p.Thr118Asn)
c.974C>A (p.Thr325Asn)
c.659C>A (p.Thr220Asn)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched