Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43066319_43066320delinsAGCA2579812192CBSc.374_375delinsCT (p.Arg125Pro)
n.685_686delinsCT
n.817_818delinsCT
c.425_426delinsCT (p.Arg142Pro)
c.59_60delinsCT (p.Arg20Pro)
n.745_746delinsCT
n.524_525delinsCT
21g.43066319_43066320delinsATCA2579812197CBSc.374_375delinsAT (p.Arg125His)
n.685_686delinsAT
n.817_818delinsAT
c.425_426delinsAT (p.Arg142His)
c.59_60delinsAT (p.Arg20His)
n.745_746delinsAT
n.524_525delinsAT
21g.43066319_43066320delinsTACA2579813888CBSc.374_375delinsTA (p.Arg125Leu)
n.685_686delinsTA
n.817_818delinsTA
c.425_426delinsTA (p.Arg142Leu)
c.59_60delinsTA (p.Arg20Leu)
n.745_746delinsTA
n.524_525delinsTA
21g.43066319_43066321delinsAAACA2579812193CBSc.373_375delinsTTT (p.Arg125Phe)
n.684_686delinsTTT
n.816_818delinsTTT
c.424_426delinsTTT (p.Arg142Phe)
c.58_60delinsTTT (p.Arg20Phe)
n.744_746delinsTTT
n.523_525delinsTTT
21g.43066319_43066321delinsAATCA2579812195CBSc.373_375delinsATT (p.Arg125Ile)
n.684_686delinsATT
n.816_818delinsATT
c.424_426delinsATT (p.Arg142Ile)
c.58_60delinsATT (p.Arg20Ile)
n.744_746delinsATT
n.523_525delinsATT
21g.43066319_43066321delinsACACA2579812199CBSc.373_375delinsTGT (p.Arg125Cys)
n.684_686delinsTGT
n.816_818delinsTGT
c.424_426delinsTGT (p.Arg142Cys)
c.58_60delinsTGT (p.Arg20Cys)
n.744_746delinsTGT
n.523_525delinsTGT
21g.43066319_43066321delinsACCCA2579812198CBSc.373_375delinsGGT (p.Arg125Gly)
n.684_686delinsGGT
n.816_818delinsGGT
c.424_426delinsGGT (p.Arg142Gly)
c.58_60delinsGGT (p.Arg20Gly)
n.744_746delinsGGT
n.523_525delinsGGT
21g.43066319_43066321delinsACTCA2579812191CBSc.373_375delinsAGT (p.Arg125Ser)
n.684_686delinsAGT
n.816_818delinsAGT
c.424_426delinsAGT (p.Arg142Ser)
c.58_60delinsAGT (p.Arg20Ser)
n.744_746delinsAGT
n.523_525delinsAGT
21g.43066319_43066321delinsAGACA2579812190CBSc.373_375delinsTCT (p.Arg125Ser)
n.684_686delinsTCT
n.816_818delinsTCT
c.424_426delinsTCT (p.Arg142Ser)
c.58_60delinsTCT (p.Arg20Ser)
n.744_746delinsTCT
n.523_525delinsTCT
21g.43066319_43066321delinsAGCCA2579812202CBSc.373_375delinsGCT (p.Arg125Ala)
n.684_686delinsGCT
n.816_818delinsGCT
c.424_426delinsGCT (p.Arg142Ala)
c.58_60delinsGCT (p.Arg20Ala)
n.744_746delinsGCT
n.523_525delinsGCT
21g.43066319_43066321delinsAGTCA2579812187CBSc.373_375delinsACT (p.Arg125Thr)
n.684_686delinsACT
n.816_818delinsACT
c.424_426delinsACT (p.Arg142Thr)
c.58_60delinsACT (p.Arg20Thr)
n.744_746delinsACT
n.523_525delinsACT
21g.43066319_43066321delinsATACA2579813887CBSc.373_375delinsTAT (p.Arg125Tyr)
n.684_686delinsTAT
n.816_818delinsTAT
c.424_426delinsTAT (p.Arg142Tyr)
c.58_60delinsTAT (p.Arg20Tyr)
n.744_746delinsTAT
n.523_525delinsTAT
21g.43066319_43066321delinsATCCA2579812201CBSc.373_375delinsGAT (p.Arg125Asp)
n.684_686delinsGAT
n.816_818delinsGAT
c.424_426delinsGAT (p.Arg142Asp)
c.58_60delinsGAT (p.Arg20Asp)
n.744_746delinsGAT
n.523_525delinsGAT
21g.43066319_43066321delinsTAACA2579812196CBSc.373_375delinsTTA (p.Arg125Leu)
n.684_686delinsTTA
n.816_818delinsTTA
c.424_426delinsTTA (p.Arg142Leu)
c.58_60delinsTTA (p.Arg20Leu)
n.744_746delinsTTA
n.523_525delinsTTA
21g.43066320C>ACA410601842CBSc.374G>T (p.Arg125Leu)
n.685G>T
n.817G>T
c.425G>T (p.Arg142Leu)
c.59G>T (p.Arg20Leu)
n.745G>T
n.524G>T
21g.43066320C=CA2391104167CBSc.374G= (p.Arg125=)
n.685G=
n.817G=
c.425G= (p.Arg142=)
c.59G= (p.Arg20=)
n.745G=
n.524G=
21g.43066320C>GCA410601843CBSc.374G>C (p.Arg125Pro)
n.685G>C
n.817G>C
c.425G>C (p.Arg142Pro)
c.59G>C (p.Arg20Pro)
n.745G>C
n.524G>C
21g.43066320C>TCA275291CBSc.374G>A (p.Arg125Gln)
n.685G>A
n.817G>A
c.425G>A (p.Arg142Gln)
c.59G>A (p.Arg20Gln)
n.745G>A
n.524G>A
 ClinVar dbSNP gnomAD v4
21g.43066320_43066321delinsAACA2579812194CBSc.373_374delinsTT (p.Arg125Leu)
n.684_685delinsTT
n.816_817delinsTT
c.424_425delinsTT (p.Arg142Leu)
c.58_59delinsTT (p.Arg20Leu)
n.744_745delinsTT
n.523_524delinsTT
21g.43066320_43066321delinsACCA2579812186CBSc.373_374delinsGT (p.Arg125Val)
n.684_685delinsGT
n.816_817delinsGT
c.424_425delinsGT (p.Arg142Val)
c.58_59delinsGT (p.Arg20Val)
n.744_745delinsGT
n.523_524delinsGT
21g.43066320_43066321delinsGACA2579812189CBSc.373_374delinsTC (p.Arg125Ser)
n.684_685delinsTC
n.816_817delinsTC
c.424_425delinsTC (p.Arg142Ser)
c.58_59delinsTC (p.Arg20Ser)
n.744_745delinsTC
n.523_524delinsTC
21g.43066320_43066321delinsGCCA2579812205CBSc.373_374delinsGC (p.Arg125Ala)
n.684_685delinsGC
n.816_817delinsGC
c.424_425delinsGC (p.Arg142Ala)
c.58_59delinsGC (p.Arg20Ala)
n.744_745delinsGC
n.523_524delinsGC
21g.43066320_43066321delinsTACA2579812188CBSc.373_374delinsTA (p.Arg125Ter)
n.684_685delinsTA
n.816_817delinsTA
c.424_425delinsTA (p.Arg142Ter)
c.58_59delinsTA (p.Arg20Ter)
n.744_745delinsTA
n.523_524delinsTA
21g.43066320_43066321delinsTCCA2579812200CBSc.373_374delinsGA (p.Arg125Glu)
n.684_685delinsGA
n.816_817delinsGA
c.424_425delinsGA (p.Arg142Glu)
c.58_59delinsGA (p.Arg20Glu)
n.744_745delinsGA
n.523_524delinsGA
21g.43066320_43066323dupCA321097806CBSc.371_374dup (p.Met126AlafsTer4)
n.682_685dup
n.814_817dup
c.422_425dup (p.Met143AlafsTer4)
c.56_59dup (p.Met21AlafsTer4)
n.742_745dup
n.521_524dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066320_43066321insTCA2654728586CBSc.373_374insA (p.Arg125GlnfsTer4)
n.684_685insA
n.816_817insA
c.424_425insA (p.Arg142GlnfsTer4)
c.58_59insA (p.Arg20GlnfsTer4)
n.744_745insA
n.523_524insA
 gnomAD v4
21g.43066321G>ACA10644742CBSc.373C>T (p.Arg125Trp)
n.684C>T
n.816C>T
c.424C>T (p.Arg142Trp)
c.58C>T (p.Arg20Trp)
n.744C>T
n.523C>T
 ClinVar dbSNP gnomAD v4
21g.43066321G>CCA410601844CBSc.373C>G (p.Arg125Gly)
n.684C>G
n.816C>G
c.424C>G (p.Arg142Gly)
c.58C>G (p.Arg20Gly)
n.744C>G
n.523C>G
21g.43066321G=CA2391104168CBSc.373C= (p.Arg125=)
n.684C=
n.816C=
c.424C= (p.Arg142=)
c.58C= (p.Arg20=)
n.744C=
n.523C=
21g.43066321G>TCA2577615901CBSc.373C>A (p.Arg125=)
n.684C>A
n.816C>A
c.424C>A (p.Arg142=)
c.58C>A (p.Arg20=)
n.744C>A
n.523C>A
 gnomAD v4
21g.43066321_43066329delCA2654728587CBSc.365_373del (p.Ile122_Leu124del)
n.676_684del
n.808_816del
c.416_424del (p.Ile139_Leu141del)
c.50_58del (p.Ile17_Leu19del)
n.736_744del
n.515_523del
 gnomAD v4
21g.43066322C=CA2391104169CBSc.372G= (p.Leu124=)
n.683G=
n.815G=
c.423G= (p.Leu141=)
c.57G= (p.Leu19=)
n.743G=
n.522G=
21g.43066322C>TCA749580353CBSc.372G>A (p.Leu124=)
n.683G>A
n.815G>A
c.423G>A (p.Leu141=)
c.57G>A (p.Leu19=)
n.743G>A
n.522G>A
 ClinVar dbSNP
21g.43066322_43066323delinsACCA2579807926CBSc.371_372delinsGT (p.Leu124Arg)
n.682_683delinsGT
n.814_815delinsGT
c.422_423delinsGT (p.Leu141Arg)
c.56_57delinsGT (p.Leu19Arg)
n.742_743delinsGT
n.521_522delinsGT
21g.43066322_43066323delinsATCA2579807925CBSc.371_372delinsAT (p.Leu124His)
n.682_683delinsAT
n.814_815delinsAT
c.422_423delinsAT (p.Leu141His)
c.56_57delinsAT (p.Leu19His)
n.742_743delinsAT
n.521_522delinsAT
21g.43066322_43066323delinsGGCA2579807921CBSc.371_372delinsCC (p.Leu124Pro)
n.682_683delinsCC
n.814_815delinsCC
c.422_423delinsCC (p.Leu141Pro)
c.56_57delinsCC (p.Leu19Pro)
n.742_743delinsCC
n.521_522delinsCC
21g.43066322_43066323delinsTGCA2579807919CBSc.371_372delinsCA (p.Leu124Pro)
n.682_683delinsCA
n.814_815delinsCA
c.422_423delinsCA (p.Leu141Pro)
c.56_57delinsCA (p.Leu19Pro)
n.742_743delinsCA
n.521_522delinsCA
21g.43066322_43066324delinsAAACA2579807920CBSc.370_372delinsTTT (p.Leu124Phe)
n.681_683delinsTTT
n.813_815delinsTTT
c.421_423delinsTTT (p.Leu141Phe)
c.55_57delinsTTT (p.Leu19Phe)
n.741_743delinsTTT
n.520_522delinsTTT
21g.43066322_43066324delinsAACCA2579807914CBSc.370_372delinsGTT (p.Leu124Val)
n.681_683delinsGTT
n.813_815delinsGTT
c.421_423delinsGTT (p.Leu141Val)
c.55_57delinsGTT (p.Leu19Val)
n.741_743delinsGTT
n.520_522delinsGTT
21g.43066322_43066324delinsAATCA2579807923CBSc.370_372delinsATT (p.Leu124Ile)
n.681_683delinsATT
n.813_815delinsATT
c.421_423delinsATT (p.Leu141Ile)
c.55_57delinsATT (p.Leu19Ile)
n.741_743delinsATT
n.520_522delinsATT
21g.43066322_43066324delinsAGACA2579807918CBSc.370_372delinsTCT (p.Leu124Ser)
n.681_683delinsTCT
n.813_815delinsTCT
c.421_423delinsTCT (p.Leu141Ser)
c.55_57delinsTCT (p.Leu19Ser)
n.741_743delinsTCT
n.520_522delinsTCT
21g.43066322_43066324delinsGATCA2579807922CBSc.370_372delinsATC (p.Leu124Ile)
n.681_683delinsATC
n.813_815delinsATC
c.421_423delinsATC (p.Leu141Ile)
c.55_57delinsATC (p.Leu19Ile)
n.741_743delinsATC
n.520_522delinsATC
21g.43066322_43066323insGGATGATTGAGGCA2654728589CBSc.371_372insCCTCAATCATCC (p.Leu124_Arg125insLeuAsnHisPro)
n.682_683insCCTCAATCATCC
n.814_815insCCTCAATCATCC
c.422_423insCCTCAATCATCC (p.Leu141_Arg142insLeuAsnHisPro)
c.56_57insCCTCAATCATCC (p.Leu19_Arg20insLeuAsnHisPro)
n.742_743insCCTCAATCATCC
n.521_522insCCTCAATCATCC
 gnomAD v4
21g.43066323delCA2654728588CBSc.371del (p.Leu124ArgfsTer3)
n.682del
n.814del
c.422del (p.Leu141ArgfsTer3)
c.56del (p.Leu19ArgfsTer3)
n.742del
n.521del
 gnomAD v4
21g.43066323A=CA2391104170CBSc.371T= (p.Leu124=)
n.682T=
n.814T=
c.422T= (p.Leu141=)
c.56T= (p.Leu19=)
n.742T=
n.521T=
21g.43066323A>CCA321097819CBSc.371T>G (p.Leu124Arg)
n.682T>G
n.814T>G
c.422T>G (p.Leu141Arg)
c.56T>G (p.Leu19Arg)
n.742T>G
n.521T>G
 dbSNP
21g.43066323A>GCA410601845CBSc.371T>C (p.Leu124Pro)
n.682T>C
n.814T>C
c.422T>C (p.Leu141Pro)
c.56T>C (p.Leu19Pro)
n.742T>C
n.521T>C
21g.43066323A>TCA410601846CBSc.371T>A (p.Leu124Gln)
n.682T>A
n.814T>A
c.422T>A (p.Leu141Gln)
c.56T>A (p.Leu19Gln)
n.742T>A
n.521T>A
21g.43066323_43066324delinsCACA2579807915CBSc.370_371delinsTG (p.Leu124Trp)
n.681_682delinsTG
n.813_814delinsTG
c.421_422delinsTG (p.Leu141Trp)
c.55_56delinsTG (p.Leu19Trp)
n.741_742delinsTG
n.520_521delinsTG
21g.43066323_43066324delinsCCCA2579807924CBSc.370_371delinsGG (p.Leu124Gly)
n.681_682delinsGG
n.813_814delinsGG
c.421_422delinsGG (p.Leu141Gly)
c.55_56delinsGG (p.Leu19Gly)
n.741_742delinsGG
n.520_521delinsGG
21g.43066323_43066324delinsCTCA2579807928CBSc.370_371delinsAG (p.Leu124Arg)
n.681_682delinsAG
n.813_814delinsAG
c.421_422delinsAG (p.Leu141Arg)
c.55_56delinsAG (p.Leu19Arg)
n.741_742delinsAG
n.520_521delinsAG
21g.43066323_43066324delinsGACA2579807916CBSc.370_371delinsTC (p.Leu124Ser)
n.681_682delinsTC
n.813_814delinsTC
c.421_422delinsTC (p.Leu141Ser)
c.55_56delinsTC (p.Leu19Ser)
n.741_742delinsTC
n.520_521delinsTC
21g.43066323_43066324delinsTACA2579807917CBSc.370_371delinsTA (p.Leu124Ter)
n.681_682delinsTA
n.813_814delinsTA
c.421_422delinsTA (p.Leu141Ter)
c.55_56delinsTA (p.Leu19Ter)
n.741_742delinsTA
n.520_521delinsTA
21g.43066323_43066324delinsTTCA2579813636CBSc.370_371delinsAA (p.Leu124Lys)
n.681_682delinsAA
n.813_814delinsAA
c.421_422delinsAA (p.Leu141Lys)
c.55_56delinsAA (p.Leu19Lys)
n.741_742delinsAA
n.520_521delinsAA
21g.43066324G>ACA2579807927CBSc.370C>T (p.Leu124=)
n.681C>T
n.813C>T
c.421C>T (p.Leu141=)
c.55C>T (p.Leu19=)
n.741C>T
n.520C>T
 gnomAD v4
21g.43066324G>CCA410601847CBSc.370C>G (p.Leu124Val)
n.681C>G
n.813C>G
c.421C>G (p.Leu141Val)
c.55C>G (p.Leu19Val)
n.741C>G
n.520C>G
21g.43066324G>TCA410601848CBSc.370C>A (p.Leu124Met)
n.681C>A
n.813C>A
c.421C>A (p.Leu141Met)
c.55C>A (p.Leu19Met)
n.741C>A
n.520C>A
 gnomAD v4
21g.43066325G>ACA2499225941CBSc.369C>T (p.Ser123=)
n.680C>T
n.812C>T
c.420C>T (p.Ser140=)
c.54C>T (p.Ser18=)
n.740C>T
n.519C>T
 ClinVar dbSNP
21g.43066325G>CCA410601849CBSc.369C>G (p.Ser123Arg)
n.680C>G
n.812C>G
c.420C>G (p.Ser140Arg)
c.54C>G (p.Ser18Arg)
n.740C>G
n.519C>G
21g.43066325G=CA2391104171CBSc.369C= (p.Ser123=)
n.680C=
n.812C=
c.420C= (p.Ser140=)
c.54C= (p.Ser18=)
n.740C=
n.519C=
21g.43066325G>TCA410601850CBSc.369C>A (p.Ser123Arg)
n.680C>A
n.812C>A
c.420C>A (p.Ser140Arg)
c.54C>A (p.Ser18Arg)
n.740C>A
n.519C>A
 ClinVar dbSNP gnomAD v4
21g.43066325_43066326delinsAGCA2579813487CBSc.368_369delinsCT (p.Ser123Thr)
n.679_680delinsCT
n.811_812delinsCT
c.419_420delinsCT (p.Ser140Thr)
c.53_54delinsCT (p.Ser18Thr)
n.739_740delinsCT
n.518_519delinsCT
21g.43066325_43066326delinsATCA2579813490CBSc.368_369delinsAT (p.Ser123Asn)
n.679_680delinsAT
n.811_812delinsAT
c.419_420delinsAT (p.Ser140Asn)
c.53_54delinsAT (p.Ser18Asn)
n.739_740delinsAT
n.518_519delinsAT
21g.43066325_43066326delinsCACA2579804783CBSc.368_369delinsTG (p.Ser123Met)
n.679_680delinsTG
n.811_812delinsTG
c.419_420delinsTG (p.Ser140Met)
c.53_54delinsTG (p.Ser18Met)
n.739_740delinsTG
n.518_519delinsTG
21g.43066325_43066326delinsCGCA2579804781CBSc.368_369delinsCG (p.Ser123Thr)
n.679_680delinsCG
n.811_812delinsCG
c.419_420delinsCG (p.Ser140Thr)
c.53_54delinsCG (p.Ser18Thr)
n.739_740delinsCG
n.518_519delinsCG
21g.43066325_43066327delinsAACCA2579804777CBSc.367_369delinsGTT (p.Ser123Val)
n.678_680delinsGTT
n.810_812delinsGTT
c.418_420delinsGTT (p.Ser140Val)
c.52_54delinsGTT (p.Ser18Val)
n.738_740delinsGTT
n.517_519delinsGTT
21g.43066325_43066327delinsACACA2579804787CBSc.367_369delinsTGT (p.Ser123Cys)
n.678_680delinsTGT
n.810_812delinsTGT
c.418_420delinsTGT (p.Ser140Cys)
c.52_54delinsTGT (p.Ser18Cys)
n.738_740delinsTGT
n.517_519delinsTGT
21g.43066325_43066327delinsACCCA2579804785CBSc.367_369delinsGGT (p.Ser123Gly)
n.678_680delinsGGT
n.810_812delinsGGT
c.418_420delinsGGT (p.Ser140Gly)
c.52_54delinsGGT (p.Ser18Gly)
n.738_740delinsGGT
n.517_519delinsGGT
21g.43066325_43066327delinsAGACA2579804790CBSc.367_369delinsTCT (p.Ser123=)
n.678_680delinsTCT
n.810_812delinsTCT
c.418_420delinsTCT (p.Ser140=)
c.52_54delinsTCT (p.Ser18=)
n.738_740delinsTCT
n.517_519delinsTCT
21g.43066325_43066327delinsAGCCA2579813489CBSc.367_369delinsGCT (p.Ser123Ala)
n.678_680delinsGCT
n.810_812delinsGCT
c.418_420delinsGCT (p.Ser140Ala)
c.52_54delinsGCT (p.Ser18Ala)
n.738_740delinsGCT
n.517_519delinsGCT
21g.43066325_43066327delinsATCCA2579804788CBSc.367_369delinsGAT (p.Ser123Asp)
n.678_680delinsGAT
n.810_812delinsGAT
c.418_420delinsGAT (p.Ser140Asp)
c.52_54delinsGAT (p.Ser18Asp)
n.738_740delinsGAT
n.517_519delinsGAT
21g.43066325_43066327delinsCAACA2579804784CBSc.367_369delinsTTG (p.Ser123Leu)
n.678_680delinsTTG
n.810_812delinsTTG
c.418_420delinsTTG (p.Ser140Leu)
c.52_54delinsTTG (p.Ser18Leu)
n.738_740delinsTTG
n.517_519delinsTTG
21g.43066325_43066327delinsCACCA2579804779CBSc.367_369delinsGTG (p.Ser123Val)
n.678_680delinsGTG
n.810_812delinsGTG
c.418_420delinsGTG (p.Ser140Val)
c.52_54delinsGTG (p.Ser18Val)
n.738_740delinsGTG
n.517_519delinsGTG
21g.43066325_43066327delinsCCACA2579804780CBSc.367_369delinsTGG (p.Ser123Trp)
n.678_680delinsTGG
n.810_812delinsTGG
c.418_420delinsTGG (p.Ser140Trp)
c.52_54delinsTGG (p.Ser18Trp)
n.738_740delinsTGG
n.517_519delinsTGG
21g.43066325_43066327delinsCCCCA2579804786CBSc.367_369delinsGGG (p.Ser123Gly)
n.678_680delinsGGG
n.810_812delinsGGG
c.418_420delinsGGG (p.Ser140Gly)
c.52_54delinsGGG (p.Ser18Gly)
n.738_740delinsGGG
n.517_519delinsGGG
21g.43066325_43066327delinsCGACA2579804789CBSc.367_369delinsTCG (p.Ser123=)
n.678_680delinsTCG
n.810_812delinsTCG
c.418_420delinsTCG (p.Ser140=)
c.52_54delinsTCG (p.Ser18=)
n.738_740delinsTCG
n.517_519delinsTCG
21g.43066325_43066327delinsCTACA2579804782CBSc.367_369delinsTAG (p.Ser123Ter)
n.678_680delinsTAG
n.810_812delinsTAG
c.418_420delinsTAG (p.Ser140Ter)
c.52_54delinsTAG (p.Ser18Ter)
n.738_740delinsTAG
n.517_519delinsTAG
21g.43066326C>ACA410601851CBSc.368G>T (p.Ser123Ile)
n.679G>T
n.811G>T
c.419G>T (p.Ser140Ile)
c.53G>T (p.Ser18Ile)
n.739G>T
n.518G>T
 gnomAD v4
21g.43066326C>GCA410601853CBSc.368G>C (p.Ser123Thr)
n.679G>C
n.811G>C
c.419G>C (p.Ser140Thr)
c.53G>C (p.Ser18Thr)
n.739G>C
n.518G>C
21g.43066326C>TCA410601852CBSc.368G>A (p.Ser123Asn)
n.679G>A
n.811G>A
c.419G>A (p.Ser140Asn)
c.53G>A (p.Ser18Asn)
n.739G>A
n.518G>A
 gnomAD v4
21g.43066326_43066327delinsACCA2579804778CBSc.367_368delinsGT (p.Ser123Val)
n.678_679delinsGT
n.810_811delinsGT
c.418_419delinsGT (p.Ser140Val)
c.52_53delinsGT (p.Ser18Val)
n.738_739delinsGT
n.517_518delinsGT
21g.43066326_43066327delinsAGCA2579813488CBSc.367_368delinsCT (p.Ser123Leu)
n.678_679delinsCT
n.810_811delinsCT
c.418_419delinsCT (p.Ser140Leu)
c.52_53delinsCT (p.Ser18Leu)
n.738_739delinsCT
n.517_518delinsCT
21g.43066327_43066336delCA2573054941CBSc.359_368del (p.Asp120AlafsTer4)
n.670_679del
n.802_811del
c.410_419del (p.Asp137AlafsTer4)
c.44_53del (p.Asp15AlafsTer4)
n.730_739del
n.509_518del
 ClinVar dbSNP
21g.43066327T>ACA410601854CBSc.367A>T (p.Ser123Cys)
n.678A>T
n.810A>T
c.418A>T (p.Ser140Cys)
c.52A>T (p.Ser18Cys)
n.738A>T
n.517A>T
21g.43066327T>CCA410601855CBSc.367A>G (p.Ser123Gly)
n.678A>G
n.810A>G
c.418A>G (p.Ser140Gly)
c.52A>G (p.Ser18Gly)
n.738A>G
n.517A>G
21g.43066327T>GCA410601856CBSc.367A>C (p.Ser123Arg)
n.678A>C
n.810A>C
c.418A>C (p.Ser140Arg)
c.52A>C (p.Ser18Arg)
n.738A>C
n.517A>C
21g.43066328G>ACA2577615902CBSc.366C>T (p.Ile122=)
n.677C>T
n.809C>T
c.417C>T (p.Ile139=)
c.51C>T (p.Ile17=)
n.737C>T
n.516C>T
 ClinVar
21g.43066328G>CCA410601857CBSc.366C>G (p.Ile122Met)
n.677C>G
n.809C>G
c.417C>G (p.Ile139Met)
c.51C>G (p.Ile17Met)
n.737C>G
n.516C>G
21g.43066328G>TCA2577615903CBSc.366C>A (p.Ile122=)
n.677C>A
n.809C>A
c.417C>A (p.Ile139=)
c.51C>A (p.Ile17=)
n.737C>A
n.516C>A
 gnomAD v4
21g.43066328_43066329delinsAGCA2579808613CBSc.365_366delinsCT (p.Ile122Thr)
n.676_677delinsCT
n.808_809delinsCT
c.416_417delinsCT (p.Ile139Thr)
c.50_51delinsCT (p.Ile17Thr)
n.736_737delinsCT
n.515_516delinsCT
21g.43066328_43066329delinsATCA2579808624CBSc.365_366delinsAT (p.Ile122Asn)
n.676_677delinsAT
n.808_809delinsAT
c.416_417delinsAT (p.Ile139Asn)
c.50_51delinsAT (p.Ile17Asn)
n.736_737delinsAT
n.515_516delinsAT
21g.43066328_43066329delinsTGCA2579813667CBSc.365_366delinsCA (p.Ile122Thr)
n.676_677delinsCA
n.808_809delinsCA
c.416_417delinsCA (p.Ile139Thr)
c.50_51delinsCA (p.Ile17Thr)
n.736_737delinsCA
n.515_516delinsCA
21g.43066328_43066330delinsAAACA2579808617CBSc.364_366delinsTTT (p.Ile122Phe)
n.675_677delinsTTT
n.807_809delinsTTT
c.415_417delinsTTT (p.Ile139Phe)
c.49_51delinsTTT (p.Ile17Phe)
n.735_737delinsTTT
n.514_516delinsTTT
21g.43066328_43066330delinsAACCA2579808611CBSc.364_366delinsGTT (p.Ile122Val)
n.675_677delinsGTT
n.807_809delinsGTT
c.415_417delinsGTT (p.Ile139Val)
c.49_51delinsGTT (p.Ile17Val)
n.735_737delinsGTT
n.514_516delinsGTT
21g.43066328_43066330delinsAAGCA2579808619CBSc.364_366delinsCTT (p.Ile122Leu)
n.675_677delinsCTT
n.807_809delinsCTT
c.415_417delinsCTT (p.Ile139Leu)
c.49_51delinsCTT (p.Ile17Leu)
n.735_737delinsCTT
n.514_516delinsCTT
21g.43066328_43066330delinsACACA2579808623CBSc.364_366delinsTGT (p.Ile122Cys)
n.675_677delinsTGT
n.807_809delinsTGT
c.415_417delinsTGT (p.Ile139Cys)
c.49_51delinsTGT (p.Ile17Cys)
n.735_737delinsTGT
n.514_516delinsTGT
21g.43066328_43066330delinsACCCA2579808620CBSc.364_366delinsGGT (p.Ile122Gly)
n.675_677delinsGGT
n.807_809delinsGGT
c.415_417delinsGGT (p.Ile139Gly)
c.49_51delinsGGT (p.Ile17Gly)
n.735_737delinsGGT
n.514_516delinsGGT
21g.43066328_43066330delinsACGCA2579808625CBSc.364_366delinsCGT (p.Ile122Arg)
n.675_677delinsCGT
n.807_809delinsCGT
c.415_417delinsCGT (p.Ile139Arg)
c.49_51delinsCGT (p.Ile17Arg)
n.735_737delinsCGT
n.514_516delinsCGT
21g.43066328_43066330delinsAGCCA2579808626CBSc.364_366delinsGCT (p.Ile122Ala)
n.675_677delinsGCT
n.807_809delinsGCT
c.415_417delinsGCT (p.Ile139Ala)
c.49_51delinsGCT (p.Ile17Ala)
n.735_737delinsGCT
n.514_516delinsGCT
21g.43066328_43066330delinsAGGCA2579808615CBSc.364_366delinsCCT (p.Ile122Pro)
n.675_677delinsCCT
n.807_809delinsCCT
c.415_417delinsCCT (p.Ile139Pro)
c.49_51delinsCCT (p.Ile17Pro)
n.735_737delinsCCT
n.514_516delinsCCT
21g.43066328_43066330delinsATCCA2579813668CBSc.364_366delinsGAT (p.Ile122Asp)
n.675_677delinsGAT
n.807_809delinsGAT
c.415_417delinsGAT (p.Ile139Asp)
c.49_51delinsGAT (p.Ile17Asp)
n.735_737delinsGAT
n.514_516delinsGAT
21g.43066328_43066330delinsCAACA2579808618CBSc.364_366delinsTTG (p.Ile122Leu)
n.675_677delinsTTG
n.807_809delinsTTG
c.415_417delinsTTG (p.Ile139Leu)
c.49_51delinsTTG (p.Ile17Leu)
n.735_737delinsTTG
n.514_516delinsTTG
21g.43066328_43066330delinsCACCA2579808612CBSc.364_366delinsGTG (p.Ile122Val)
n.675_677delinsGTG
n.807_809delinsGTG
c.415_417delinsGTG (p.Ile139Val)
c.49_51delinsGTG (p.Ile17Val)
n.735_737delinsGTG
n.514_516delinsGTG
21g.43066328_43066330delinsCCACA2579808614CBSc.364_366delinsTGG (p.Ile122Trp)
n.675_677delinsTGG
n.807_809delinsTGG
c.415_417delinsTGG (p.Ile139Trp)
c.49_51delinsTGG (p.Ile17Trp)
n.735_737delinsTGG
n.514_516delinsTGG
21g.43066328_43066330delinsCGGCA2579808616CBSc.364_366delinsCCG (p.Ile122Pro)
n.675_677delinsCCG
n.807_809delinsCCG
c.415_417delinsCCG (p.Ile139Pro)
c.49_51delinsCCG (p.Ile17Pro)
n.735_737delinsCCG
n.514_516delinsCCG
21g.43066328_43066330delinsCTCCA2579808621CBSc.364_366delinsGAG (p.Ile122Glu)
n.675_677delinsGAG
n.807_809delinsGAG
c.415_417delinsGAG (p.Ile139Glu)
c.49_51delinsGAG (p.Ile17Glu)
n.735_737delinsGAG
n.514_516delinsGAG
21g.43066328_43066330delinsCTGCA2579808622CBSc.364_366delinsCAG (p.Ile122Gln)
n.675_677delinsCAG
n.807_809delinsCAG
c.415_417delinsCAG (p.Ile139Gln)
c.49_51delinsCAG (p.Ile17Gln)
n.735_737delinsCAG
n.514_516delinsCAG
21g.43066328_43066330delinsTACCA2579813666CBSc.364_366delinsGTA (p.Ile122Val)
n.675_677delinsGTA
n.807_809delinsGTA
c.415_417delinsGTA (p.Ile139Val)
c.49_51delinsGTA (p.Ile17Val)
n.735_737delinsGTA
n.514_516delinsGTA
21g.43066329A>CCA410601858CBSc.365T>G (p.Ile122Ser)
n.676T>G
n.808T>G
c.416T>G (p.Ile139Ser)
c.50T>G (p.Ile17Ser)
n.736T>G
n.515T>G
21g.43066329A>GCA410601859CBSc.365T>C (p.Ile122Thr)
n.676T>C
n.808T>C
c.416T>C (p.Ile139Thr)
c.50T>C (p.Ile17Thr)
n.736T>C
n.515T>C
21g.43066329A>TCA410601860CBSc.365T>A (p.Ile122Asn)
n.676T>A
n.808T>A
c.416T>A (p.Ile139Asn)
c.50T>A (p.Ile17Asn)
n.736T>A
n.515T>A
21g.43066330T>ACA410601861CBSc.364A>T (p.Ile122Phe)
n.675A>T
n.807A>T
c.415A>T (p.Ile139Phe)
c.49A>T (p.Ile17Phe)
n.735A>T
n.514A>T
21g.43066330T>CCA410601862CBSc.364A>G (p.Ile122Val)
n.675A>G
n.807A>G
c.415A>G (p.Ile139Val)
c.49A>G (p.Ile17Val)
n.735A>G
n.514A>G
21g.43066330T>GCA410601863CBSc.364A>C (p.Ile122Leu)
n.675A>C
n.807A>C
c.415A>C (p.Ile139Leu)
c.49A>C (p.Ile17Leu)
n.735A>C
n.514A>C
21g.43066330dupCA2654728590CBSc.364dup (p.Ile122AsnfsTer7)
n.675dup
n.807dup
c.415dup (p.Ile139AsnfsTer7)
c.49dup (p.Ile17AsnfsTer7)
n.735dup
n.514dup
 gnomAD v4
21g.43066330_43066331insTGACA2654728591CBSc.363_364insTCA (p.Arg121_Ile122insSer)
n.674_675insTCA
n.806_807insTCA
c.414_415insTCA (p.Arg138_Ile139insSer)
c.48_49insTCA (p.Arg16_Ile17insSer)
n.734_735insTCA
n.513_514insTCA
 gnomAD v4
21g.43066331G>TCA2577615904CBSc.363C>A (p.Arg121=)
n.674C>A
n.806C>A
c.414C>A (p.Arg138=)
c.48C>A (p.Arg16=)
n.734C>A
n.513C>A
21g.43066331_43066332delinsAACA2579812219CBSc.362_363delinsTT (p.Arg121Leu)
n.673_674delinsTT
n.805_806delinsTT
c.413_414delinsTT (p.Arg138Leu)
c.47_48delinsTT (p.Arg16Leu)
n.733_734delinsTT
n.512_513delinsTT
21g.43066331_43066332delinsAGCA2579812212CBSc.362_363delinsCT (p.Arg121Pro)
n.673_674delinsCT
n.805_806delinsCT
c.413_414delinsCT (p.Arg138Pro)
c.47_48delinsCT (p.Arg16Pro)
n.733_734delinsCT
n.512_513delinsCT
21g.43066331_43066332delinsATCA2579812221CBSc.362_363delinsAT (p.Arg121His)
n.673_674delinsAT
n.805_806delinsAT
c.413_414delinsAT (p.Arg138His)
c.47_48delinsAT (p.Arg16His)
n.733_734delinsAT
n.512_513delinsAT
21g.43066331_43066332delinsCACA2579812217CBSc.362_363delinsTG (p.Arg121Leu)
n.673_674delinsTG
n.805_806delinsTG
c.413_414delinsTG (p.Arg138Leu)
c.47_48delinsTG (p.Arg16Leu)
n.733_734delinsTG
n.512_513delinsTG
21g.43066331_43066332delinsCTCA2579812224CBSc.362_363delinsAG (p.Arg121Gln)
n.673_674delinsAG
n.805_806delinsAG
c.413_414delinsAG (p.Arg138Gln)
c.47_48delinsAG (p.Arg16Gln)
n.733_734delinsAG
n.512_513delinsAG
21g.43066331_43066333delinsAAACA2579812214CBSc.361_363delinsTTT (p.Arg121Phe)
n.672_674delinsTTT
n.804_806delinsTTT
c.412_414delinsTTT (p.Arg138Phe)
c.46_48delinsTTT (p.Arg16Phe)
n.732_734delinsTTT
n.511_513delinsTTT
21g.43066331_43066333delinsAACCA2579812203CBSc.361_363delinsGTT (p.Arg121Val)
n.672_674delinsGTT
n.804_806delinsGTT
c.412_414delinsGTT (p.Arg138Val)
c.46_48delinsGTT (p.Arg16Val)
n.732_734delinsGTT
n.511_513delinsGTT
21g.43066331_43066333delinsAATCA2579812220CBSc.361_363delinsATT (p.Arg121Ile)
n.672_674delinsATT
n.804_806delinsATT
c.412_414delinsATT (p.Arg138Ile)
c.46_48delinsATT (p.Arg16Ile)
n.732_734delinsATT
n.511_513delinsATT
21g.43066331_43066333delinsACACA2579812225CBSc.361_363delinsTGT (p.Arg121Cys)
n.672_674delinsTGT
n.804_806delinsTGT
c.412_414delinsTGT (p.Arg138Cys)
c.46_48delinsTGT (p.Arg16Cys)
n.732_734delinsTGT
n.511_513delinsTGT
21g.43066331_43066333delinsACCCA2579812222CBSc.361_363delinsGGT (p.Arg121Gly)
n.672_674delinsGGT
n.804_806delinsGGT
c.412_414delinsGGT (p.Arg138Gly)
c.46_48delinsGGT (p.Arg16Gly)
n.732_734delinsGGT
n.511_513delinsGGT
21g.43066331_43066333delinsACTCA2579812211CBSc.361_363delinsAGT (p.Arg121Ser)
n.672_674delinsAGT
n.804_806delinsAGT
c.412_414delinsAGT (p.Arg138Ser)
c.46_48delinsAGT (p.Arg16Ser)
n.732_734delinsAGT
n.511_513delinsAGT
21g.43066331_43066333delinsAGACA2579812213CBSc.361_363delinsTCT (p.Arg121Ser)
n.672_674delinsTCT
n.804_806delinsTCT
c.412_414delinsTCT (p.Arg138Ser)
c.46_48delinsTCT (p.Arg16Ser)
n.732_734delinsTCT
n.511_513delinsTCT
21g.43066331_43066333delinsATACA2579812206CBSc.361_363delinsTAT (p.Arg121Tyr)
n.672_674delinsTAT
n.804_806delinsTAT
c.412_414delinsTAT (p.Arg138Tyr)
c.46_48delinsTAT (p.Arg16Tyr)
n.732_734delinsTAT
n.511_513delinsTAT
21g.43066331_43066333delinsATCCA2579812228CBSc.361_363delinsGAT (p.Arg121Asp)
n.672_674delinsGAT
n.804_806delinsGAT
c.412_414delinsGAT (p.Arg138Asp)
c.46_48delinsGAT (p.Arg16Asp)
n.732_734delinsGAT
n.511_513delinsGAT
21g.43066331_43066333delinsCAACA2579812218CBSc.361_363delinsTTG (p.Arg121Leu)
n.672_674delinsTTG
n.804_806delinsTTG
c.412_414delinsTTG (p.Arg138Leu)
c.46_48delinsTTG (p.Arg16Leu)
n.732_734delinsTTG
n.511_513delinsTTG
21g.43066331_43066333delinsCACCA2579812204CBSc.361_363delinsGTG (p.Arg121Val)
n.672_674delinsGTG
n.804_806delinsGTG
c.412_414delinsGTG (p.Arg138Val)
c.46_48delinsGTG (p.Arg16Val)
n.732_734delinsGTG
n.511_513delinsGTG
21g.43066331_43066333delinsCATCA2579812216CBSc.361_363delinsATG (p.Arg121Met)
n.672_674delinsATG
n.804_806delinsATG
c.412_414delinsATG (p.Arg138Met)
c.46_48delinsATG (p.Arg16Met)
n.732_734delinsATG
n.511_513delinsATG
21g.43066331_43066333delinsCCACA2579812209CBSc.361_363delinsTGG (p.Arg121Trp)
n.672_674delinsTGG
n.804_806delinsTGG
c.412_414delinsTGG (p.Arg138Trp)
c.46_48delinsTGG (p.Arg16Trp)
n.732_734delinsTGG
n.511_513delinsTGG
21g.43066331_43066333delinsCCCCA2579812223CBSc.361_363delinsGGG (p.Arg121Gly)
n.672_674delinsGGG
n.804_806delinsGGG
c.412_414delinsGGG (p.Arg138Gly)
c.46_48delinsGGG (p.Arg16Gly)
n.732_734delinsGGG
n.511_513delinsGGG
21g.43066331_43066333delinsCCTCA2579812227CBSc.361_363delinsAGG (p.Arg121=)
n.672_674delinsAGG
n.804_806delinsAGG
c.412_414delinsAGG (p.Arg138=)
c.46_48delinsAGG (p.Arg16=)
n.732_734delinsAGG
n.511_513delinsAGG
21g.43066331_43066333delinsCGACA2579813905CBSc.361_363delinsTCG (p.Arg121Ser)
n.672_674delinsTCG
n.804_806delinsTCG
c.412_414delinsTCG (p.Arg138Ser)
c.46_48delinsTCG (p.Arg16Ser)
n.732_734delinsTCG
n.511_513delinsTCG
21g.43066331_43066333delinsCTACA2579812208CBSc.361_363delinsTAG (p.Arg121Ter)
n.672_674delinsTAG
n.804_806delinsTAG
c.412_414delinsTAG (p.Arg138Ter)
c.46_48delinsTAG (p.Arg16Ter)
n.732_734delinsTAG
n.511_513delinsTAG
21g.43066331_43066333delinsCTTCA2579812215CBSc.361_363delinsAAG (p.Arg121Lys)
n.672_674delinsAAG
n.804_806delinsAAG
c.412_414delinsAAG (p.Arg138Lys)
c.46_48delinsAAG (p.Arg16Lys)
n.732_734delinsAAG
n.511_513delinsAAG
21g.43066331_43066333delinsTCACA2579812210CBSc.361_363delinsTGA (p.Arg121Ter)
n.672_674delinsTGA
n.804_806delinsTGA
c.412_414delinsTGA (p.Arg138Ter)
c.46_48delinsTGA (p.Arg16Ter)
n.732_734delinsTGA
n.511_513delinsTGA
21g.43066332C>ACA275933CBSc.362G>T (p.Arg121Leu)
n.673G>T
n.805G>T
c.413G>T (p.Arg138Leu)
c.47G>T (p.Arg16Leu)
n.733G>T
n.512G>T
 ClinVar dbSNP gnomAD v4
21g.43066332C=CA2391104172CBSc.362G= (p.Arg121=)
n.673G=
n.805G=
c.413G= (p.Arg138=)
c.47G= (p.Arg16=)
n.733G=
n.512G=
21g.43066332C>GCA410601864CBSc.362G>C (p.Arg121Pro)
n.673G>C
n.805G>C
c.413G>C (p.Arg138Pro)
c.47G>C (p.Arg16Pro)
n.733G>C
n.512G>C
21g.43066332C>TCA274172CBSc.362G>A (p.Arg121His)
n.673G>A
n.805G>A
c.413G>A (p.Arg138His)
c.47G>A (p.Arg16His)
n.733G>A
n.512G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.43066332_43066333delinsGTCA2579812207CBSc.361_362delinsAC (p.Arg121Thr)
n.672_673delinsAC
n.804_805delinsAC
c.412_413delinsAC (p.Arg138Thr)
c.46_47delinsAC (p.Arg16Thr)
n.732_733delinsAC
n.511_512delinsAC
21g.43066332_43066333delinsTCCA2579812226CBSc.361_362delinsGA (p.Arg121Asp)
n.672_673delinsGA
n.804_805delinsGA
c.412_413delinsGA (p.Arg138Asp)
c.46_47delinsGA (p.Arg16Asp)
n.732_733delinsGA
n.511_512delinsGA
21g.43066334_43066343delCA2695201464CBSc.353_362del (p.Val118AlafsTer6)
n.664_673del
n.796_805del
c.404_413del (p.Val135AlafsTer6)
c.38_47del (p.Val13AlafsTer6)
n.724_733del
n.503_512del
 ClinVar
21g.43066333G>ACA321269CBSc.361C>T (p.Arg121Cys)
n.672C>T
n.804C>T
c.412C>T (p.Arg138Cys)
c.46C>T (p.Arg16Cys)
n.732C>T
n.511C>T
 ClinVar dbSNP gnomAD v4
21g.43066333G>CCA410601866CBSc.361C>G (p.Arg121Gly)
n.672C>G
n.804C>G
c.412C>G (p.Arg138Gly)
c.46C>G (p.Arg16Gly)
n.732C>G
n.511C>G
 ClinVar gnomAD v4
21g.43066333G=CA2391104173CBSc.361C= (p.Arg121=)
n.672C=
n.804C=
c.412C= (p.Arg138=)
c.46C= (p.Arg16=)
n.732C=
n.511C=
21g.43066333G>TCA410601865CBSc.361C>A (p.Arg121Ser)
n.672C>A
n.804C>A
c.412C>A (p.Arg138Ser)
c.46C>A (p.Arg16Ser)
n.732C>A
n.511C>A
 gnomAD v4
21g.43066334G>ACA2577615907CBSc.360C>T (p.Asp120=)
n.671C>T
n.803C>T
c.411C>T (p.Asp137=)
c.45C>T (p.Asp15=)
n.731C>T
n.510C>T
 gnomAD v4
21g.43066334G>CCA410601867CBSc.360C>G (p.Asp120Glu)
n.671C>G
n.803C>G
c.411C>G (p.Asp137Glu)
c.45C>G (p.Asp15Glu)
n.731C>G
n.510C>G
21g.43066334G>TCA410601868CBSc.360C>A (p.Asp120Glu)
n.671C>A
n.803C>A
c.411C>A (p.Asp137Glu)
c.45C>A (p.Asp15Glu)
n.731C>A
n.510C>A
21g.43066334_43066335delinsAACA2579813845CBSc.359_360delinsTT (p.Asp120Val)
n.670_671delinsTT
n.802_803delinsTT
c.410_411delinsTT (p.Asp137Val)
c.44_45delinsTT (p.Asp15Val)
n.730_731delinsTT
n.509_510delinsTT
21g.43066334_43066335delinsACCA2579813846CBSc.359_360delinsGT (p.Asp120Gly)
n.670_671delinsGT
n.802_803delinsGT
c.410_411delinsGT (p.Asp137Gly)
c.44_45delinsGT (p.Asp15Gly)
n.730_731delinsGT
n.509_510delinsGT
21g.43066334_43066335delinsCACA2579811572CBSc.359_360delinsTG (p.Asp120Val)
n.670_671delinsTG
n.802_803delinsTG
c.410_411delinsTG (p.Asp137Val)
c.44_45delinsTG (p.Asp15Val)
n.730_731delinsTG
n.509_510delinsTG
21g.43066334_43066335delinsCGCA2579811578CBSc.359_360delinsCG (p.Asp120Ala)
n.670_671delinsCG
n.802_803delinsCG
c.410_411delinsCG (p.Asp137Ala)
c.44_45delinsCG (p.Asp15Ala)
n.730_731delinsCG
n.509_510delinsCG
21g.43066334_43066336delinsACTCA2579811576CBSc.358_360delinsAGT (p.Asp120Ser)
n.669_671delinsAGT
n.801_803delinsAGT
c.409_411delinsAGT (p.Asp137Ser)
c.43_45delinsAGT (p.Asp15Ser)
n.729_731delinsAGT
n.508_510delinsAGT
21g.43066334_43066336delinsATACA2579811573CBSc.358_360delinsTAT (p.Asp120Tyr)
n.669_671delinsTAT
n.801_803delinsTAT
c.409_411delinsTAT (p.Asp137Tyr)
c.43_45delinsTAT (p.Asp15Tyr)
n.729_731delinsTAT
n.508_510delinsTAT
21g.43066334_43066336delinsCCACA2579811575CBSc.358_360delinsTGG (p.Asp120Trp)
n.669_671delinsTGG
n.801_803delinsTGG
c.409_411delinsTGG (p.Asp137Trp)
c.43_45delinsTGG (p.Asp15Trp)
n.729_731delinsTGG
n.508_510delinsTGG
21g.43066334_43066336delinsCCGCA2579811579CBSc.358_360delinsCGG (p.Asp120Arg)
n.669_671delinsCGG
n.801_803delinsCGG
c.409_411delinsCGG (p.Asp137Arg)
c.43_45delinsCGG (p.Asp15Arg)
n.729_731delinsCGG
n.508_510delinsCGG
21g.43066334_43066336delinsCGACA2579811574CBSc.358_360delinsTCG (p.Asp120Ser)
n.669_671delinsTCG
n.801_803delinsTCG
c.409_411delinsTCG (p.Asp137Ser)
c.43_45delinsTCG (p.Asp15Ser)
n.729_731delinsTCG
n.508_510delinsTCG
21g.43066334_43066336delinsCTACA2579813847CBSc.358_360delinsTAG (p.Asp120Ter)
n.669_671delinsTAG
n.801_803delinsTAG
c.409_411delinsTAG (p.Asp137Ter)
c.43_45delinsTAG (p.Asp15Ter)
n.729_731delinsTAG
n.508_510delinsTAG
21g.43066335T>ACA410601869CBSc.359A>T (p.Asp120Val)
n.670A>T
n.802A>T
c.410A>T (p.Asp137Val)
c.44A>T (p.Asp15Val)
n.730A>T
n.509A>T
21g.43066335T>CCA410601870CBSc.359A>G (p.Asp120Gly)
n.670A>G
n.802A>G
c.410A>G (p.Asp137Gly)
c.44A>G (p.Asp15Gly)
n.730A>G
n.509A>G
 ClinVar dbSNP
21g.43066335T>GCA410601871CBSc.359A>C (p.Asp120Ala)
n.670A>C
n.802A>C
c.410A>C (p.Asp137Ala)
c.44A>C (p.Asp15Ala)
n.730A>C
n.509A>C
21g.43066335T=CA2391104174CBSc.359A= (p.Asp120=)
n.670A=
n.802A=
c.410A= (p.Asp137=)
c.44A= (p.Asp15=)
n.730A=
n.509A=
21g.43066335_43066336delinsAACA2579811577CBSc.358_359delinsTT (p.Asp120Phe)
n.669_670delinsTT
n.801_802delinsTT
c.409_410delinsTT (p.Asp137Phe)
c.43_44delinsTT (p.Asp15Phe)
n.729_730delinsTT
n.508_509delinsTT
21g.43066336C>ACA410601872CBSc.358G>T (p.Asp120Tyr)
n.669G>T
n.801G>T
c.409G>T (p.Asp137Tyr)
c.43G>T (p.Asp15Tyr)
n.729G>T
n.508G>T
 gnomAD v4
21g.43066336C=CA2391104175CBSc.358G= (p.Asp120=)
n.669G=
n.801G=
c.409G= (p.Asp137=)
c.43G= (p.Asp15=)
n.729G=
n.508G=
21g.43066336C>GCA410601873CBSc.358G>C (p.Asp120His)
n.669G>C
n.801G>C
c.409G>C (p.Asp137His)
c.43G>C (p.Asp15His)
n.729G>C
n.508G>C
21g.43066336C>TCA410601874CBSc.358G>A (p.Asp120Asn)
n.669G>A
n.801G>A
c.409G>A (p.Asp137Asn)
c.43G>A (p.Asp15Asn)
n.729G>A
n.508G>A
 dbSNP gnomAD v3 gnomAD v4
21g.43066337C>ACA410601875CBSc.357G>T (p.Lys119Asn)
n.668G>T
n.800G>T
c.408G>T (p.Lys136Asn)
c.42G>T (p.Lys14Asn)
n.728G>T
n.507G>T
21g.43066337C>GCA410601876CBSc.357G>C (p.Lys119Asn)
n.668G>C
n.800G>C
c.408G>C (p.Lys136Asn)
c.42G>C (p.Lys14Asn)
n.728G>C
n.507G>C
21g.43066337C>TCA2579807277CBSc.357G>A (p.Lys119=)
n.668G>A
n.800G>A
c.408G>A (p.Lys136=)
c.42G>A (p.Lys14=)
n.728G>A
n.507G>A
21g.43066337_43066338delinsAACA2579807273CBSc.356_357delinsTT (p.Lys119Ile)
n.667_668delinsTT
n.799_800delinsTT
c.407_408delinsTT (p.Lys136Ile)
c.41_42delinsTT (p.Lys14Ile)
n.727_728delinsTT
n.506_507delinsTT
21g.43066337_43066338delinsGACA2579813559CBSc.356_357delinsTC (p.Lys119Ile)
n.667_668delinsTC
n.799_800delinsTC
c.407_408delinsTC (p.Lys136Ile)
c.41_42delinsTC (p.Lys14Ile)
n.727_728delinsTC
n.506_507delinsTC
21g.43066337_43066339delinsAAACA2579807272CBSc.355_357delinsTTT (p.Lys119Phe)
n.666_668delinsTTT
n.798_800delinsTTT
c.406_408delinsTTT (p.Lys136Phe)
c.40_42delinsTTT (p.Lys14Phe)
n.726_728delinsTTT
n.505_507delinsTTT
21g.43066337_43066339delinsAACCA2579807270CBSc.355_357delinsGTT (p.Lys119Val)
n.666_668delinsGTT
n.798_800delinsGTT
c.406_408delinsGTT (p.Lys136Val)
c.40_42delinsGTT (p.Lys14Val)
n.726_728delinsGTT
n.505_507delinsGTT
21g.43066337_43066339delinsTTCCA2579807276CBSc.355_357delinsGAA (p.Lys119Glu)
n.666_668delinsGAA
n.798_800delinsGAA
c.406_408delinsGAA (p.Lys136Glu)
c.40_42delinsGAA (p.Lys14Glu)
n.726_728delinsGAA
n.505_507delinsGAA
21g.43066338T>ACA410601877CBSc.356A>T (p.Lys119Met)
n.667A>T
n.799A>T
c.407A>T (p.Lys136Met)
c.41A>T (p.Lys14Met)
n.727A>T
n.506A>T
21g.43066338T>CCA410601878CBSc.356A>G (p.Lys119Arg)
n.667A>G
n.799A>G
c.407A>G (p.Lys136Arg)
c.41A>G (p.Lys14Arg)
n.727A>G
n.506A>G
21g.43066338T>GCA410601879CBSc.356A>C (p.Lys119Thr)
n.667A>C
n.799A>C
c.407A>C (p.Lys136Thr)
c.41A>C (p.Lys14Thr)
n.727A>C
n.506A>C
21g.43066338_43066339delinsAACA2579807275CBSc.355_356delinsTT (p.Lys119Leu)
n.666_667delinsTT
n.798_799delinsTT
c.406_407delinsTT (p.Lys136Leu)
c.40_41delinsTT (p.Lys14Leu)
n.726_727delinsTT
n.505_506delinsTT
21g.43066338_43066339delinsACCA2579807271CBSc.355_356delinsGT (p.Lys119Val)
n.666_667delinsGT
n.798_799delinsGT
c.406_407delinsGT (p.Lys136Val)
c.40_41delinsGT (p.Lys14Val)
n.726_727delinsGT
n.505_506delinsGT
21g.43066338_43066339delinsCCCA2579807274CBSc.355_356delinsGG (p.Lys119Gly)
n.666_667delinsGG
n.798_799delinsGG
c.406_407delinsGG (p.Lys136Gly)
c.40_41delinsGG (p.Lys14Gly)
n.726_727delinsGG
n.505_506delinsGG
21g.43066339T>ACA410601881CBSc.355A>T (p.Lys119Ter)
n.666A>T
n.798A>T
c.406A>T (p.Lys136Ter)
c.40A>T (p.Lys14Ter)
n.726A>T
n.505A>T
21g.43066339T>CCA410601882CBSc.355A>G (p.Lys119Glu)
n.666A>G
n.798A>G
c.406A>G (p.Lys136Glu)
c.40A>G (p.Lys14Glu)
n.726A>G
n.505A>G
21g.43066339T>GCA410601880CBSc.355A>C (p.Lys119Gln)
n.666A>C
n.798A>C
c.406A>C (p.Lys136Gln)
c.40A>C (p.Lys14Gln)
n.726A>C
n.505A>C
21g.43066343_43066368delCA2654728592CBSc.330_355del (p.Phe111GlyfsTer9)
n.641_666del
n.773_798del
c.381_406del (p.Phe128GlyfsTer9)
c.15_40del (p.Phe6GlyfsTer9)
n.701_726del
n.480_505del
 gnomAD v4
21g.43066340C>TCA2654728593CBSc.354G>A (p.Val118=)
n.665G>A
n.797G>A
c.405G>A (p.Val135=)
c.39G>A (p.Val13=)
n.725G>A
n.504G>A
 gnomAD v4
21g.43066340_43066341delinsACCA2579803345CBSc.353_354delinsGT (p.Val118Gly)
n.664_665delinsGT
n.796_797delinsGT
c.404_405delinsGT (p.Val135Gly)
c.38_39delinsGT (p.Val13Gly)
n.724_725delinsGT
n.503_504delinsGT
21g.43066340_43066341delinsAGCA2579803350CBSc.353_354delinsCT (p.Val118Ala)
n.664_665delinsCT
n.796_797delinsCT
c.404_405delinsCT (p.Val135Ala)
c.38_39delinsCT (p.Val13Ala)
n.724_725delinsCT
n.503_504delinsCT
21g.43066340_43066341delinsATCA2579803347CBSc.353_354delinsAT (p.Val118Asp)
n.664_665delinsAT
n.796_797delinsAT
c.404_405delinsAT (p.Val135Asp)
c.38_39delinsAT (p.Val13Asp)
n.724_725delinsAT
n.503_504delinsAT
21g.43066340_43066342delinsAAACA2579813370CBSc.352_354delinsTTT (p.Val118Phe)
n.663_665delinsTTT
n.795_797delinsTTT
c.403_405delinsTTT (p.Val135Phe)
c.37_39delinsTTT (p.Val13Phe)
n.723_725delinsTTT
n.502_504delinsTTT
21g.43066340_43066342delinsAAGCA2579803336CBSc.352_354delinsCTT (p.Val118Leu)
n.663_665delinsCTT
n.795_797delinsCTT
c.403_405delinsCTT (p.Val135Leu)
c.37_39delinsCTT (p.Val13Leu)
n.723_725delinsCTT
n.502_504delinsCTT
21g.43066340_43066342delinsAATCA2579803343CBSc.352_354delinsATT (p.Val118Ile)
n.663_665delinsATT
n.795_797delinsATT
c.403_405delinsATT (p.Val135Ile)
c.37_39delinsATT (p.Val13Ile)
n.723_725delinsATT
n.502_504delinsATT
21g.43066340_43066342delinsAGACA2579803335CBSc.352_354delinsTCT (p.Val118Ser)
n.663_665delinsTCT
n.795_797delinsTCT
c.403_405delinsTCT (p.Val135Ser)
c.37_39delinsTCT (p.Val13Ser)
n.723_725delinsTCT
n.502_504delinsTCT
21g.43066340_43066342delinsATGCA2579803346CBSc.352_354delinsCAT (p.Val118His)
n.663_665delinsCAT
n.795_797delinsCAT
c.403_405delinsCAT (p.Val135His)
c.37_39delinsCAT (p.Val13His)
n.723_725delinsCAT
n.502_504delinsCAT
21g.43066340_43066342delinsGATCA2579803344CBSc.352_354delinsATC (p.Val118Ile)
n.663_665delinsATC
n.795_797delinsATC
c.403_405delinsATC (p.Val135Ile)
c.37_39delinsATC (p.Val13Ile)
n.723_725delinsATC
n.502_504delinsATC
21g.43066340_43066342delinsTAACA2579803341CBSc.352_354delinsTTA (p.Val118Leu)
n.663_665delinsTTA
n.795_797delinsTTA
c.403_405delinsTTA (p.Val135Leu)
c.37_39delinsTTA (p.Val13Leu)
n.723_725delinsTTA
n.502_504delinsTTA
21g.43066341A>CCA410601883CBSc.353T>G (p.Val118Gly)
n.664T>G
n.796T>G
c.404T>G (p.Val135Gly)
c.38T>G (p.Val13Gly)
n.724T>G
n.503T>G
21g.43066341A>GCA410601884CBSc.353T>C (p.Val118Ala)
n.664T>C
n.796T>C
c.404T>C (p.Val135Ala)
c.38T>C (p.Val13Ala)
n.724T>C
n.503T>C
21g.43066341A>TCA410601885CBSc.353T>A (p.Val118Glu)
n.664T>A
n.796T>A
c.404T>A (p.Val135Glu)
c.38T>A (p.Val13Glu)
n.724T>A
n.503T>A
21g.43066341_43066342delinsCGCA2579803348CBSc.352_353delinsCG (p.Val118Arg)
n.663_664delinsCG
n.795_796delinsCG
c.403_404delinsCG (p.Val135Arg)
c.37_38delinsCG (p.Val13Arg)
n.723_724delinsCG
n.502_503delinsCG
21g.43066341_43066342delinsGTCA2579803332CBSc.352_353delinsAC (p.Val118Thr)
n.663_664delinsAC
n.795_796delinsAC
c.403_404delinsAC (p.Val135Thr)
c.37_38delinsAC (p.Val13Thr)
n.723_724delinsAC
n.502_503delinsAC
21g.43066341_43066342delinsTACA2579803334CBSc.352_353delinsTA (p.Val118Ter)
n.663_664delinsTA
n.795_796delinsTA
c.403_404delinsTA (p.Val135Ter)
c.37_38delinsTA (p.Val13Ter)
n.723_724delinsTA
n.502_503delinsTA
21g.43066342C>ACA410601886CBSc.352G>T (p.Val118Leu)
n.663G>T
n.795G>T
c.403G>T (p.Val135Leu)
c.37G>T (p.Val13Leu)
n.723G>T
n.502G>T
 ClinVar gnomAD v4
21g.43066342C=CA2391104176CBSc.352G= (p.Val118=)
n.663G=
n.795G=
c.403G= (p.Val135=)
c.37G= (p.Val13=)
n.723G=
n.502G=
21g.43066342C>GCA410601887CBSc.352G>C (p.Val118Leu)
n.663G>C
n.795G>C
c.403G>C (p.Val135Leu)
c.37G>C (p.Val13Leu)
n.723G>C
n.502G>C
21g.43066342C>TCA10644745CBSc.352G>A (p.Val118Met)
n.663G>A
n.795G>A
c.403G>A (p.Val135Met)
c.37G>A (p.Val13Met)
n.723G>A
n.502G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.43066343G>ACA321097852CBSc.351C>T (p.Ser117=)
n.662C>T
n.794C>T
c.402C>T (p.Ser134=)
c.36C>T (p.Ser12=)
n.722C>T
n.501C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066343G>CCA410601888CBSc.351C>G (p.Ser117Arg)
n.662C>G
n.794C>G
c.402C>G (p.Ser134Arg)
c.36C>G (p.Ser12Arg)
n.722C>G
n.501C>G
21g.43066343G=CA2391104177CBSc.351C= (p.Ser117=)
n.662C=
n.794C=
c.402C= (p.Ser134=)
c.36C= (p.Ser12=)
n.722C=
n.501C=
21g.43066343G>TCA410601889CBSc.351C>A (p.Ser117Arg)
n.662C>A
n.794C>A
c.402C>A (p.Ser134Arg)
c.36C>A (p.Ser12Arg)
n.722C>A
n.501C>A
 gnomAD v4
21g.43066343_43066344delinsATCA2579813492CBSc.350_351delinsAT (p.Ser117Asn)
n.661_662delinsAT
n.793_794delinsAT
c.401_402delinsAT (p.Ser134Asn)
c.35_36delinsAT (p.Ser12Asn)
n.721_722delinsAT
n.500_501delinsAT
21g.43066343_43066345delinsAACCA2579813491CBSc.349_351delinsGTT (p.Ser117Val)
n.660_662delinsGTT
n.792_794delinsGTT
c.400_402delinsGTT (p.Ser134Val)
c.34_36delinsGTT (p.Ser12Val)
n.720_722delinsGTT
n.499_501delinsGTT
21g.43066343_43066345delinsACACA2579804794CBSc.349_351delinsTGT (p.Ser117Cys)
n.660_662delinsTGT
n.792_794delinsTGT
c.400_402delinsTGT (p.Ser134Cys)
c.34_36delinsTGT (p.Ser12Cys)
n.720_722delinsTGT
n.499_501delinsTGT
21g.43066343_43066345delinsACCCA2579804792CBSc.349_351delinsGGT (p.Ser117Gly)
n.660_662delinsGGT
n.792_794delinsGGT
c.400_402delinsGGT (p.Ser134Gly)
c.34_36delinsGGT (p.Ser12Gly)
n.720_722delinsGGT
n.499_501delinsGGT
21g.43066343_43066345delinsATCCA2579805406CBSc.349_351delinsGAT (p.Ser117Asp)
n.660_662delinsGAT
n.792_794delinsGAT
c.400_402delinsGAT (p.Ser134Asp)
c.34_36delinsGAT (p.Ser12Asp)
n.720_722delinsGAT
n.499_501delinsGAT
21g.43066343_43066345delinsTCCCA2579804791CBSc.349_351delinsGGA (p.Ser117Gly)
n.660_662delinsGGA
n.792_794delinsGGA
c.400_402delinsGGA (p.Ser134Gly)
c.34_36delinsGGA (p.Ser12Gly)
n.720_722delinsGGA
n.499_501delinsGGA
21g.43066344C>ACA321097853CBSc.350G>T (p.Ser117Ile)
n.661G>T
n.793G>T
c.401G>T (p.Ser134Ile)
c.35G>T (p.Ser12Ile)
n.721G>T
n.500G>T
 dbSNP gnomAD v4
21g.43066344C=CA2391104178CBSc.350G= (p.Ser117=)
n.661G=
n.793G=
c.401G= (p.Ser134=)
c.35G= (p.Ser12=)
n.721G=
n.500G=
21g.43066344C>GCA410601890CBSc.350G>C (p.Ser117Thr)
n.661G>C
n.793G>C
c.401G>C (p.Ser134Thr)
c.35G>C (p.Ser12Thr)
n.721G>C
n.500G>C
21g.43066344C>TCA410601891CBSc.350G>A (p.Ser117Asn)
n.661G>A
n.793G>A
c.401G>A (p.Ser134Asn)
c.35G>A (p.Ser12Asn)
n.721G>A
n.500G>A
21g.43066345T>ACA410601894CBSc.349A>T (p.Ser117Cys)
n.660A>T
n.792A>T
c.400A>T (p.Ser134Cys)
c.34A>T (p.Ser12Cys)
n.720A>T
n.499A>T
 ClinVar dbSNP
21g.43066345T>CCA410601892CBSc.349A>G (p.Ser117Gly)
n.660A>G
n.792A>G
c.400A>G (p.Ser134Gly)
c.34A>G (p.Ser12Gly)
n.720A>G
n.499A>G
21g.43066345T>GCA410601893CBSc.349A>C (p.Ser117Arg)
n.660A>C
n.792A>C
c.400A>C (p.Ser134Arg)
c.34A>C (p.Ser12Arg)
n.720A>C
n.499A>C
21g.43066345T=CA2391104179CBSc.349A= (p.Ser117=)
n.660A=
n.792A=
c.400A= (p.Ser134=)
c.34A= (p.Ser12=)
n.720A=
n.499A=
21g.43066346C>ACA16608525CBSc.348G>T (p.Gly116=)
n.659G>T
n.791G>T
c.399G>T (p.Gly133=)
c.33G>T (p.Gly11=)
n.719G>T
n.498G>T
 ClinVar dbSNP
21g.43066346C=CA2391104180CBSc.348G= (p.Gly116=)
n.659G=
n.791G=
c.399G= (p.Gly133=)
c.33G= (p.Gly11=)
n.719G=
n.498G=
21g.43066346C>GCA321097860CBSc.348G>C (p.Gly116=)
n.659G>C
n.791G>C
c.399G>C (p.Gly133=)
c.33G>C (p.Gly11=)
n.719G>C
n.498G>C
 dbSNP
21g.43066346C>TCA2579810110CBSc.348G>A (p.Gly116=)
n.659G>A
n.791G>A
c.399G>A (p.Gly133=)
c.33G>A (p.Gly11=)
n.719G>A
n.498G>A
21g.43066346_43066347delinsATCA2579810108CBSc.347_348delinsAT (p.Gly116Asp)
n.658_659delinsAT
n.790_791delinsAT
c.398_399delinsAT (p.Gly133Asp)
c.32_33delinsAT (p.Gly11Asp)
n.718_719delinsAT
n.497_498delinsAT
21g.43066346_43066347delinsGACA2579810103CBSc.347_348delinsTC (p.Gly116Val)
n.658_659delinsTC
n.790_791delinsTC
c.398_399delinsTC (p.Gly133Val)
c.32_33delinsTC (p.Gly11Val)
n.718_719delinsTC
n.497_498delinsTC
21g.43066346_43066347delinsTACA2579810104CBSc.347_348delinsTA (p.Gly116Val)
n.658_659delinsTA
n.790_791delinsTA
c.398_399delinsTA (p.Gly133Val)
c.32_33delinsTA (p.Gly11Val)
n.718_719delinsTA
n.497_498delinsTA
21g.43066346_43066348delinsACACA2579810106CBSc.346_348delinsTGT (p.Gly116Cys)
n.657_659delinsTGT
n.789_791delinsTGT
c.397_399delinsTGT (p.Gly133Cys)
c.31_33delinsTGT (p.Gly11Cys)
n.717_719delinsTGT
n.496_498delinsTGT
21g.43066346_43066348delinsACTCA2579810107CBSc.346_348delinsAGT (p.Gly116Ser)
n.657_659delinsAGT
n.789_791delinsAGT
c.397_399delinsAGT (p.Gly133Ser)
c.31_33delinsAGT (p.Gly11Ser)
n.717_719delinsAGT
n.496_498delinsAGT
21g.43066346_43066348delinsGCGCA2579813745CBSc.346_348delinsCGC (p.Gly116Arg)
n.657_659delinsCGC
n.789_791delinsCGC
c.397_399delinsCGC (p.Gly133Arg)
c.31_33delinsCGC (p.Gly11Arg)
n.717_719delinsCGC
n.496_498delinsCGC
21g.43066346_43066348delinsTCACA2579813744CBSc.346_348delinsTGA (p.Gly116Ter)
n.657_659delinsTGA
n.789_791delinsTGA
c.397_399delinsTGA (p.Gly133Ter)
c.31_33delinsTGA (p.Gly11Ter)
n.717_719delinsTGA
n.496_498delinsTGA
21g.43066346_43066348delinsTCTCA2579810109CBSc.346_348delinsAGA (p.Gly116Arg)
n.657_659delinsAGA
n.789_791delinsAGA
c.397_399delinsAGA (p.Gly133Arg)
c.31_33delinsAGA (p.Gly11Arg)
n.717_719delinsAGA
n.496_498delinsAGA
21g.43066347C>ACA410601895CBSc.347G>T (p.Gly116Val)
n.658G>T
n.790G>T
c.398G>T (p.Gly133Val)
c.32G>T (p.Gly11Val)
n.718G>T
n.497G>T
21g.43066347C>GCA410601896CBSc.347G>C (p.Gly116Ala)
n.658G>C
n.790G>C
c.398G>C (p.Gly133Ala)
c.32G>C (p.Gly11Ala)
n.718G>C
n.497G>C
21g.43066347C>TCA410601897CBSc.347G>A (p.Gly116Glu)
n.658G>A
n.790G>A
c.398G>A (p.Gly133Glu)
c.32G>A (p.Gly11Glu)
n.718G>A
n.497G>A
21g.43066347_43066348delinsTACA2579810105CBSc.346_347delinsTA (p.Gly116Ter)
n.657_658delinsTA
n.789_790delinsTA
c.397_398delinsTA (p.Gly133Ter)
c.31_32delinsTA (p.Gly11Ter)
n.717_718delinsTA
n.496_497delinsTA
21g.43066348C>ACA410601898CBSc.346G>T (p.Gly116Trp)
n.657G>T
n.789G>T
c.397G>T (p.Gly133Trp)
c.31G>T (p.Gly11Trp)
n.717G>T
n.496G>T
21g.43066348C=CA2391104181CBSc.346G= (p.Gly116=)
n.657G=
n.789G=
c.397G= (p.Gly133=)
c.31G= (p.Gly11=)
n.717G=
n.496G=
21g.43066348C>GCA410601899CBSc.346G>C (p.Gly116Arg)
n.657G>C
n.789G>C
c.397G>C (p.Gly133Arg)
c.31G>C (p.Gly11Arg)
n.717G>C
n.496G>C
21g.43066348C>TCA273957CBSc.346G>A (p.Gly116Arg)
n.657G>A
n.789G>A
c.397G>A (p.Gly133Arg)
c.31G>A (p.Gly11Arg)
n.717G>A
n.496G>A
 ClinVar dbSNP gnomAD v4
21g.43066349G>ACA321097878CBSc.345C>T (p.Gly115=)
n.656C>T
n.788C>T
c.396C>T (p.Gly132=)
c.30C>T (p.Gly10=)
n.716C>T
n.495C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066349G=CA2391104182CBSc.345C= (p.Gly115=)
n.656C=
n.788C=
c.396C= (p.Gly132=)
c.30C= (p.Gly10=)
n.716C=
n.495C=
21g.43066349G>TCA2654728594CBSc.345C>A (p.Gly115=)
n.656C>A
n.788C>A
c.396C>A (p.Gly132=)
c.30C>A (p.Gly10=)
n.716C>A
n.495C>A
 gnomAD v4
21g.43066349_43066350delinsAGCA2579810118CBSc.344_345delinsCT (p.Gly115Ala)
n.655_656delinsCT
n.787_788delinsCT
c.395_396delinsCT (p.Gly132Ala)
c.29_30delinsCT (p.Gly10Ala)
n.715_716delinsCT
n.494_495delinsCT
21g.43066349_43066350delinsCACA2579810112CBSc.344_345delinsTG (p.Gly115Val)
n.655_656delinsTG
n.787_788delinsTG
c.395_396delinsTG (p.Gly132Val)
c.29_30delinsTG (p.Gly10Val)
n.715_716delinsTG
n.494_495delinsTG
21g.43066349_43066350delinsCGCA2579810117CBSc.344_345delinsCG (p.Gly115Ala)
n.655_656delinsCG
n.787_788delinsCG
c.395_396delinsCG (p.Gly132Ala)
c.29_30delinsCG (p.Gly10Ala)
n.715_716delinsCG
n.494_495delinsCG
21g.43066349_43066350delinsCTCA2579810114CBSc.344_345delinsAG (p.Gly115Glu)
n.655_656delinsAG
n.787_788delinsAG
c.395_396delinsAG (p.Gly132Glu)
c.29_30delinsAG (p.Gly10Glu)
n.715_716delinsAG
n.494_495delinsAG
21g.43066349_43066351delinsACGCA2579810116CBSc.343_345delinsCGT (p.Gly115Arg)
n.654_656delinsCGT
n.786_788delinsCGT
c.394_396delinsCGT (p.Gly132Arg)
c.28_30delinsCGT (p.Gly10Arg)
n.714_716delinsCGT
n.493_495delinsCGT
21g.43066349_43066351delinsACTCA2579810113CBSc.343_345delinsAGT (p.Gly115Ser)
n.654_656delinsAGT
n.786_788delinsAGT
c.394_396delinsAGT (p.Gly132Ser)
c.28_30delinsAGT (p.Gly10Ser)
n.714_716delinsAGT
n.493_495delinsAGT
21g.43066349_43066351delinsAGACA2579813746CBSc.343_345delinsTCT (p.Gly115Ser)
n.654_656delinsTCT
n.786_788delinsTCT
c.394_396delinsTCT (p.Gly132Ser)
c.28_30delinsTCT (p.Gly10Ser)
n.714_716delinsTCT
n.493_495delinsTCT
21g.43066349_43066351delinsCGACA2579810111CBSc.343_345delinsTCG (p.Gly115Ser)
n.654_656delinsTCG
n.786_788delinsTCG
c.394_396delinsTCG (p.Gly132Ser)
c.28_30delinsTCG (p.Gly10Ser)
n.714_716delinsTCG
n.493_495delinsTCG
21g.43066349_43066351delinsTCTCA2579810115CBSc.343_345delinsAGA (p.Gly115Arg)
n.654_656delinsAGA
n.786_788delinsAGA
c.394_396delinsAGA (p.Gly132Arg)
c.28_30delinsAGA (p.Gly10Arg)
n.714_716delinsAGA
n.493_495delinsAGA
21g.43066350C>ACA410601900CBSc.344G>T (p.Gly115Val)
n.655G>T
n.787G>T
c.395G>T (p.Gly132Val)
c.29G>T (p.Gly10Val)
n.715G>T
n.494G>T
21g.43066350C>GCA410601901CBSc.344G>C (p.Gly115Ala)
n.655G>C
n.787G>C
c.395G>C (p.Gly132Ala)
c.29G>C (p.Gly10Ala)
n.715G>C
n.494G>C
21g.43066350C>TCA410601902CBSc.344G>A (p.Gly115Asp)
n.655G>A
n.787G>A
c.395G>A (p.Gly132Asp)
c.29G>A (p.Gly10Asp)
n.715G>A
n.494G>A
 ClinVar
21g.43066351C>ACA410601905CBSc.343G>T (p.Gly115Cys)
n.654G>T
n.786G>T
c.394G>T (p.Gly132Cys)
c.28G>T (p.Gly10Cys)
n.714G>T
n.493G>T
21g.43066351C>GCA410601904CBSc.343G>C (p.Gly115Arg)
n.654G>C
n.786G>C
c.394G>C (p.Gly132Arg)
c.28G>C (p.Gly10Arg)
n.714G>C
n.493G>C
21g.43066351C>TCA410601903CBSc.343G>A (p.Gly115Ser)
n.654G>A
n.786G>A
c.394G>A (p.Gly132Ser)
c.28G>A (p.Gly10Ser)
n.714G>A
n.493G>A
21g.43066352C=CA2391104183CBSc.342G= (p.Ala114=)
n.653G=
n.785G=
c.393G= (p.Ala131=)
c.27G= (p.Ala9=)
n.713G=
n.492G=
21g.43066352C>TCA10587950CBSc.342G>A (p.Ala114=)
n.653G>A
n.785G>A
c.393G>A (p.Ala131=)
c.27G>A (p.Ala9=)
n.713G>A
n.492G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066352_43066353delinsAACA2579813313CBSc.341_342delinsTT (p.Ala114Val)
n.652_653delinsTT
n.784_785delinsTT
c.392_393delinsTT (p.Ala131Val)
c.26_27delinsTT (p.Ala9Val)
n.712_713delinsTT
n.491_492delinsTT
21g.43066352_43066353delinsACCA2579813325CBSc.341_342delinsGT (p.Ala114Gly)
n.652_653delinsGT
n.784_785delinsGT
c.392_393delinsGT (p.Ala131Gly)
c.26_27delinsGT (p.Ala9Gly)
n.712_713delinsGT
n.491_492delinsGT
21g.43066352_43066353delinsATCA2579813327CBSc.341_342delinsAT (p.Ala114Asp)
n.652_653delinsAT
n.784_785delinsAT
c.392_393delinsAT (p.Ala131Asp)
c.26_27delinsAT (p.Ala9Asp)
n.712_713delinsAT
n.491_492delinsAT
21g.43066352_43066354delinsAAACA2579813319CBSc.340_342delinsTTT (p.Ala114Phe)
n.651_653delinsTTT
n.783_785delinsTTT
c.391_393delinsTTT (p.Ala131Phe)
c.25_27delinsTTT (p.Ala9Phe)
n.711_713delinsTTT
n.490_492delinsTTT
21g.43066352_43066354delinsAAGCA2579813320CBSc.340_342delinsCTT (p.Ala114Leu)
n.651_653delinsCTT
n.783_785delinsCTT
c.391_393delinsCTT (p.Ala131Leu)
c.25_27delinsCTT (p.Ala9Leu)
n.711_713delinsCTT
n.490_492delinsCTT
21g.43066352_43066354delinsAATCA2579813323CBSc.340_342delinsATT (p.Ala114Ile)
n.651_653delinsATT
n.783_785delinsATT
c.391_393delinsATT (p.Ala131Ile)
c.25_27delinsATT (p.Ala9Ile)
n.711_713delinsATT
n.490_492delinsATT
21g.43066352_43066354delinsACACA2579813328CBSc.340_342delinsTGT (p.Ala114Cys)
n.651_653delinsTGT
n.783_785delinsTGT
c.391_393delinsTGT (p.Ala131Cys)
c.25_27delinsTGT (p.Ala9Cys)
n.711_713delinsTGT
n.490_492delinsTGT
21g.43066352_43066354delinsAGACA2579813316CBSc.340_342delinsTCT (p.Ala114Ser)
n.651_653delinsTCT
n.783_785delinsTCT
c.391_393delinsTCT (p.Ala131Ser)
c.25_27delinsTCT (p.Ala9Ser)
n.711_713delinsTCT
n.490_492delinsTCT
21g.43066352_43066354delinsAGGCA2579813318CBSc.340_342delinsCCT (p.Ala114Pro)
n.651_653delinsCCT
n.783_785delinsCCT
c.391_393delinsCCT (p.Ala131Pro)
c.25_27delinsCCT (p.Ala9Pro)
n.711_713delinsCCT
n.490_492delinsCCT
21g.43066352_43066354delinsAGTCA2579813314CBSc.340_342delinsACT (p.Ala114Thr)
n.651_653delinsACT
n.783_785delinsACT
c.391_393delinsACT (p.Ala131Thr)
c.25_27delinsACT (p.Ala9Thr)
n.711_713delinsACT
n.490_492delinsACT
21g.43066352_43066354delinsATACA2579813311CBSc.340_342delinsTAT (p.Ala114Tyr)
n.651_653delinsTAT
n.783_785delinsTAT
c.391_393delinsTAT (p.Ala131Tyr)
c.25_27delinsTAT (p.Ala9Tyr)
n.711_713delinsTAT
n.490_492delinsTAT
21g.43066352_43066354delinsATGCA2579813324CBSc.340_342delinsCAT (p.Ala114His)
n.651_653delinsCAT
n.783_785delinsCAT
c.391_393delinsCAT (p.Ala131His)
c.25_27delinsCAT (p.Ala9His)
n.711_713delinsCAT
n.490_492delinsCAT
21g.43066352_43066354delinsTGACA2579813317CBSc.340_342delinsTCA (p.Ala114Ser)
n.651_653delinsTCA
n.783_785delinsTCA
c.391_393delinsTCA (p.Ala131Ser)
c.25_27delinsTCA (p.Ala9Ser)
n.711_713delinsTCA
n.490_492delinsTCA
21g.43066353G>ACA113878CBSc.341C>T (p.Ala114Val)
n.652C>T
n.784C>T
c.392C>T (p.Ala131Val)
c.26C>T (p.Ala9Val)
n.712C>T
n.491C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.43066353G>CCA321097886CBSc.341C>G (p.Ala114Gly)
n.652C>G
n.784C>G
c.392C>G (p.Ala131Gly)
c.26C>G (p.Ala9Gly)
n.712C>G
n.491C>G
 dbSNP
21g.43066353G=CA2391104184CBSc.341C= (p.Ala114=)
n.652C=
n.784C=
c.392C= (p.Ala131=)
c.26C= (p.Ala9=)
n.712C=
n.491C=
21g.43066353G>TCA410601906CBSc.341C>A (p.Ala114Glu)
n.652C>A
n.784C>A
c.392C>A (p.Ala131Glu)
c.26C>A (p.Ala9Glu)
n.712C>A
n.491C>A
21g.43066353_43066354delinsAACA2579813322CBSc.340_341delinsTT (p.Ala114Leu)
n.651_652delinsTT
n.783_784delinsTT
c.391_392delinsTT (p.Ala131Leu)
c.25_26delinsTT (p.Ala9Leu)
n.711_712delinsTT
n.490_491delinsTT
21g.43066353_43066354delinsAGCA2579813321CBSc.340_341delinsCT (p.Ala114Leu)
n.651_652delinsCT
n.783_784delinsCT
c.391_392delinsCT (p.Ala131Leu)
c.25_26delinsCT (p.Ala9Leu)
n.711_712delinsCT
n.490_491delinsCT
21g.43066353_43066354delinsCACA2579813312CBSc.340_341delinsTG (p.Ala114Trp)
n.651_652delinsTG
n.783_784delinsTG
c.391_392delinsTG (p.Ala131Trp)
c.25_26delinsTG (p.Ala9Trp)
n.711_712delinsTG
n.490_491delinsTG
21g.43066353_43066354delinsCGCA2579813940CBSc.340_341delinsCG (p.Ala114Arg)
n.651_652delinsCG
n.783_784delinsCG
c.391_392delinsCG (p.Ala131Arg)
c.25_26delinsCG (p.Ala9Arg)
n.711_712delinsCG
n.490_491delinsCG
21g.43066353_43066354delinsCTCA2579813329CBSc.340_341delinsAG (p.Ala114Arg)
n.651_652delinsAG
n.783_784delinsAG
c.391_392delinsAG (p.Ala131Arg)
c.25_26delinsAG (p.Ala9Arg)
n.711_712delinsAG
n.490_491delinsAG
21g.43066353_43066354delinsTACA2579813315CBSc.340_341delinsTA (p.Ala114Ter)
n.651_652delinsTA
n.783_784delinsTA
c.391_392delinsTA (p.Ala131Ter)
c.25_26delinsTA (p.Ala9Ter)
n.711_712delinsTA
n.490_491delinsTA
21g.43066353_43066354delinsTGCA2579813326CBSc.340_341delinsCA (p.Ala114Gln)
n.651_652delinsCA
n.783_784delinsCA
c.391_392delinsCA (p.Ala131Gln)
c.25_26delinsCA (p.Ala9Gln)
n.711_712delinsCA
n.490_491delinsCA
21g.43066354C>ACA321097892CBSc.340G>T (p.Ala114Ser)
n.651G>T
n.783G>T
c.391G>T (p.Ala131Ser)
c.25G>T (p.Ala9Ser)
n.711G>T
n.490G>T
 ClinVar dbSNP gnomAD v4
21g.43066354C=CA2391104185CBSc.340G= (p.Ala114=)
n.651G=
n.783G=
c.391G= (p.Ala131=)
c.25G= (p.Ala9=)
n.711G=
n.490G=
21g.43066354C>GCA410601907CBSc.340G>C (p.Ala114Pro)
n.651G>C
n.783G>C
c.391G>C (p.Ala131Pro)
c.25G>C (p.Ala9Pro)
n.711G>C
n.490G>C
21g.43066354C>TCA321097898CBSc.340G>A (p.Ala114Thr)
n.651G>A
n.783G>A
c.391G>A (p.Ala131Thr)
c.25G>A (p.Ala9Thr)
n.711G>A
n.490G>A
 ClinVar dbSNP gnomAD v4
21g.43066355G>ACA321097902CBSc.339C>T (p.Asn113=)
n.650C>T
n.782C>T
c.390C>T (p.Asn130=)
c.24C>T (p.Asn8=)
n.710C>T
n.489C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.43066355G>CCA410601908CBSc.339C>G (p.Asn113Lys)
n.650C>G
n.782C>G
c.390C>G (p.Asn130Lys)
c.24C>G (p.Asn8Lys)
n.710C>G
n.489C>G
21g.43066355G=CA2391104186CBSc.339C= (p.Asn113=)
n.650C=
n.782C=
c.390C= (p.Asn130=)
c.24C= (p.Asn8=)
n.710C=
n.489C=
21g.43066355G>TCA410601909CBSc.339C>A (p.Asn113Lys)
n.650C>A
n.782C>A
c.390C>A (p.Asn130Lys)
c.24C>A (p.Asn8Lys)
n.710C>A
n.489C>A
 gnomAD v4
21g.43066355_43066356delinsAACA2579812338CBSc.338_339delinsTT (p.Asn113Ile)
n.649_650delinsTT
n.781_782delinsTT
c.389_390delinsTT (p.Asn130Ile)
c.23_24delinsTT (p.Asn8Ile)
n.709_710delinsTT
n.488_489delinsTT
21g.43066355_43066356delinsACCA2579812331CBSc.338_339delinsGT (p.Asn113Ser)
n.649_650delinsGT
n.781_782delinsGT
c.389_390delinsGT (p.Asn130Ser)
c.23_24delinsGT (p.Asn8Ser)
n.709_710delinsGT
n.488_489delinsGT
21g.43066355_43066356delinsAGCA2579812329CBSc.338_339delinsCT (p.Asn113Thr)
n.649_650delinsCT
n.781_782delinsCT
c.389_390delinsCT (p.Asn130Thr)
c.23_24delinsCT (p.Asn8Thr)
n.709_710delinsCT
n.488_489delinsCT
21g.43066355_43066356delinsCACA2579812334CBSc.338_339delinsTG (p.Asn113Met)
n.649_650delinsTG
n.781_782delinsTG
c.389_390delinsTG (p.Asn130Met)
c.23_24delinsTG (p.Asn8Met)
n.709_710delinsTG
n.488_489delinsTG
21g.43066355_43066356delinsCCCA2579812346CBSc.338_339delinsGG (p.Asn113Arg)
n.649_650delinsGG
n.781_782delinsGG
c.389_390delinsGG (p.Asn130Arg)
c.23_24delinsGG (p.Asn8Arg)
n.709_710delinsGG
n.488_489delinsGG
21g.43066355_43066356delinsCGCA2579812328CBSc.338_339delinsCG (p.Asn113Thr)
n.649_650delinsCG
n.781_782delinsCG
c.389_390delinsCG (p.Asn130Thr)
c.23_24delinsCG (p.Asn8Thr)
n.709_710delinsCG
n.488_489delinsCG
21g.43066355_43066357delinsAAACA2579812332CBSc.337_339delinsTTT (p.Asn113Phe)
n.648_650delinsTTT
n.780_782delinsTTT
c.388_390delinsTTT (p.Asn130Phe)
c.22_24delinsTTT (p.Asn8Phe)
n.708_710delinsTTT
n.487_489delinsTTT
21g.43066355_43066357delinsAACCA2579812324CBSc.337_339delinsGTT (p.Asn113Val)
n.648_650delinsGTT
n.780_782delinsGTT
c.388_390delinsGTT (p.Asn130Val)
c.22_24delinsGTT (p.Asn8Val)
n.708_710delinsGTT
n.487_489delinsGTT
21g.43066355_43066357delinsAAGCA2579812335CBSc.337_339delinsCTT (p.Asn113Leu)
n.648_650delinsCTT
n.780_782delinsCTT
c.388_390delinsCTT (p.Asn130Leu)
c.22_24delinsCTT (p.Asn8Leu)
n.708_710delinsCTT
n.487_489delinsCTT
21g.43066355_43066357delinsACACA2579812344CBSc.337_339delinsTGT (p.Asn113Cys)
n.648_650delinsTGT
n.780_782delinsTGT
c.388_390delinsTGT (p.Asn130Cys)
c.22_24delinsTGT (p.Asn8Cys)
n.708_710delinsTGT
n.487_489delinsTGT
21g.43066355_43066357delinsACCCA2579812339CBSc.337_339delinsGGT (p.Asn113Gly)
n.648_650delinsGGT
n.780_782delinsGGT
c.388_390delinsGGT (p.Asn130Gly)
c.22_24delinsGGT (p.Asn8Gly)
n.708_710delinsGGT
n.487_489delinsGGT
21g.43066355_43066357delinsACGCA2579812345CBSc.337_339delinsCGT (p.Asn113Arg)
n.648_650delinsCGT
n.780_782delinsCGT
c.388_390delinsCGT (p.Asn130Arg)
c.22_24delinsCGT (p.Asn8Arg)
n.708_710delinsCGT
n.487_489delinsCGT
21g.43066355_43066357delinsATACA2579812326CBSc.337_339delinsTAT (p.Asn113Tyr)
n.648_650delinsTAT
n.780_782delinsTAT
c.388_390delinsTAT (p.Asn130Tyr)
c.22_24delinsTAT (p.Asn8Tyr)
n.708_710delinsTAT
n.487_489delinsTAT
21g.43066355_43066357delinsATCCA2579812343CBSc.337_339delinsGAT (p.Asn113Asp)
n.648_650delinsGAT
n.780_782delinsGAT
c.388_390delinsGAT (p.Asn130Asp)
c.22_24delinsGAT (p.Asn8Asp)
n.708_710delinsGAT
n.487_489delinsGAT
21g.43066355_43066357delinsATGCA2579812340CBSc.337_339delinsCAT (p.Asn113His)
n.648_650delinsCAT
n.780_782delinsCAT
c.388_390delinsCAT (p.Asn130His)
c.22_24delinsCAT (p.Asn8His)
n.708_710delinsCAT
n.487_489delinsCAT
21g.43066355_43066357delinsCAACA2579812337CBSc.337_339delinsTTG (p.Asn113Leu)
n.648_650delinsTTG
n.780_782delinsTTG
c.388_390delinsTTG (p.Asn130Leu)
c.22_24delinsTTG (p.Asn8Leu)
n.708_710delinsTTG
n.487_489delinsTTG
21g.43066355_43066357delinsCACCA2579812325CBSc.337_339delinsGTG (p.Asn113Val)
n.648_650delinsGTG
n.780_782delinsGTG
c.388_390delinsGTG (p.Asn130Val)
c.22_24delinsGTG (p.Asn8Val)
n.708_710delinsGTG
n.487_489delinsGTG
21g.43066355_43066357delinsCAGCA2579812336CBSc.337_339delinsCTG (p.Asn113Leu)
n.648_650delinsCTG
n.780_782delinsCTG
c.388_390delinsCTG (p.Asn130Leu)
c.22_24delinsCTG (p.Asn8Leu)
n.708_710delinsCTG
n.487_489delinsCTG
21g.43066355_43066357delinsCCACA2579812327CBSc.337_339delinsTGG (p.Asn113Trp)
n.648_650delinsTGG
n.780_782delinsTGG
c.388_390delinsTGG (p.Asn130Trp)
c.22_24delinsTGG (p.Asn8Trp)
n.708_710delinsTGG
n.487_489delinsTGG
21g.43066355_43066357delinsCCCCA2579812341CBSc.337_339delinsGGG (p.Asn113Gly)
n.648_650delinsGGG
n.780_782delinsGGG
c.388_390delinsGGG (p.Asn130Gly)
c.22_24delinsGGG (p.Asn8Gly)
n.708_710delinsGGG
n.487_489delinsGGG
21g.43066355_43066357delinsCTACA2579812330CBSc.337_339delinsTAG (p.Asn113Ter)
n.648_650delinsTAG
n.780_782delinsTAG
c.388_390delinsTAG (p.Asn130Ter)
c.22_24delinsTAG (p.Asn8Ter)
n.708_710delinsTAG
n.487_489delinsTAG
21g.43066355_43066357delinsCTCCA2579812342CBSc.337_339delinsGAG (p.Asn113Glu)
n.648_650delinsGAG
n.780_782delinsGAG
c.388_390delinsGAG (p.Asn130Glu)
c.22_24delinsGAG (p.Asn8Glu)
n.708_710delinsGAG
n.487_489delinsGAG
21g.43066356T>ACA410601910CBSc.338A>T (p.Asn113Ile)
n.649A>T
n.781A>T
c.389A>T (p.Asn130Ile)
c.23A>T (p.Asn8Ile)
n.709A>T
n.488A>T
21g.43066356T>CCA410601911CBSc.338A>G (p.Asn113Ser)
n.649A>G
n.781A>G
c.389A>G (p.Asn130Ser)
c.23A>G (p.Asn8Ser)
n.709A>G
n.488A>G
 gnomAD v4
21g.43066356T>GCA410601912CBSc.338A>C (p.Asn113Thr)
n.649A>C
n.781A>C
c.389A>C (p.Asn130Thr)
c.23A>C (p.Asn8Thr)
n.709A>C
n.488A>C
21g.43066356_43066357delinsAACA2579812333CBSc.337_338delinsTT (p.Asn113Phe)
n.648_649delinsTT
n.780_781delinsTT
c.388_389delinsTT (p.Asn130Phe)
c.22_23delinsTT (p.Asn8Phe)
n.708_709delinsTT
n.487_488delinsTT
21g.43066357T>ACA410601913CBSc.337A>T (p.Asn113Tyr)
n.648A>T
n.780A>T
c.388A>T (p.Asn130Tyr)
c.22A>T (p.Asn8Tyr)
n.708A>T
n.487A>T
21g.43066357T>CCA410601914CBSc.337A>G (p.Asn113Asp)
n.648A>G
n.780A>G
c.388A>G (p.Asn130Asp)
c.22A>G (p.Asn8Asp)
n.708A>G
n.487A>G
21g.43066357T>GCA410601915CBSc.337A>C (p.Asn113His)
n.648A>C
n.780A>C
c.388A>C (p.Asn130His)
c.22A>C (p.Asn8His)
n.708A>C
n.487A>C
21g.43066358G>CCA410601916CBSc.336C>G (p.Phe112Leu)
n.647C>G
n.779C>G
c.387C>G (p.Phe129Leu)
c.21C>G (p.Phe7Leu)
n.707C>G
n.486C>G
21g.43066358G>TCA410601917CBSc.336C>A (p.Phe112Leu)
n.647C>A
n.779C>A
c.387C>A (p.Phe129Leu)
c.21C>A (p.Phe7Leu)
n.707C>A
n.486C>A
21g.43066358_43066359delinsACCA2579806251CBSc.335_336delinsGT (p.Phe112Cys)
n.646_647delinsGT
n.778_779delinsGT
c.386_387delinsGT (p.Phe129Cys)
c.20_21delinsGT (p.Phe7Cys)
n.706_707delinsGT
n.485_486delinsGT
21g.43066358_43066359delinsATCA2579806238CBSc.335_336delinsAT (p.Phe112Tyr)
n.646_647delinsAT
n.778_779delinsAT
c.386_387delinsAT (p.Phe129Tyr)
c.20_21delinsAT (p.Phe7Tyr)
n.706_707delinsAT
n.485_486delinsAT
21g.43066358_43066359delinsCCCA2579806239CBSc.335_336delinsGG (p.Phe112Trp)
n.646_647delinsGG
n.778_779delinsGG
c.386_387delinsGG (p.Phe129Trp)
c.20_21delinsGG (p.Phe7Trp)
n.706_707delinsGG
n.485_486delinsGG
21g.43066358_43066359delinsCGCA2579806243CBSc.335_336delinsCG (p.Phe112Ser)
n.646_647delinsCG
n.778_779delinsCG
c.386_387delinsCG (p.Phe129Ser)
c.20_21delinsCG (p.Phe7Ser)
n.706_707delinsCG
n.485_486delinsCG
21g.43066358_43066359delinsCTCA2579806240CBSc.335_336delinsAG (p.Phe112Ter)
n.646_647delinsAG
n.778_779delinsAG
c.386_387delinsAG (p.Phe129Ter)
c.20_21delinsAG (p.Phe7Ter)
n.706_707delinsAG
n.485_486delinsAG
21g.43066358_43066359delinsTGCA2579806241CBSc.335_336delinsCA (p.Phe112Ser)
n.646_647delinsCA
n.778_779delinsCA
c.386_387delinsCA (p.Phe129Ser)
c.20_21delinsCA (p.Phe7Ser)
n.706_707delinsCA
n.485_486delinsCA
21g.43066358_43066360delinsAACCA2579806236CBSc.334_336delinsGTT (p.Phe112Val)
n.645_647delinsGTT
n.777_779delinsGTT
c.385_387delinsGTT (p.Phe129Val)
c.19_21delinsGTT (p.Phe7Val)
n.705_707delinsGTT
n.484_486delinsGTT
21g.43066358_43066360delinsAAGCA2579806247CBSc.334_336delinsCTT (p.Phe112Leu)
n.645_647delinsCTT
n.777_779delinsCTT
c.385_387delinsCTT (p.Phe129Leu)
c.19_21delinsCTT (p.Phe7Leu)
n.705_707delinsCTT
n.484_486delinsCTT
21g.43066358_43066360delinsACCCA2579806248CBSc.334_336delinsGGT (p.Phe112Gly)
n.645_647delinsGGT
n.777_779delinsGGT
c.385_387delinsGGT (p.Phe129Gly)
c.19_21delinsGGT (p.Phe7Gly)
n.705_707delinsGGT
n.484_486delinsGGT
21g.43066358_43066360delinsACGCA2579806254CBSc.334_336delinsCGT (p.Phe112Arg)
n.645_647delinsCGT
n.777_779delinsCGT
c.385_387delinsCGT (p.Phe129Arg)
c.19_21delinsCGT (p.Phe7Arg)
n.705_707delinsCGT
n.484_486delinsCGT
21g.43066358_43066360delinsACTCA2579806242CBSc.334_336delinsAGT (p.Phe112Ser)
n.645_647delinsAGT
n.777_779delinsAGT
c.385_387delinsAGT (p.Phe129Ser)
c.19_21delinsAGT (p.Phe7Ser)
n.705_707delinsAGT
n.484_486delinsAGT
21g.43066358_43066360delinsAGCCA2579806255CBSc.334_336delinsGCT (p.Phe112Ala)
n.645_647delinsGCT
n.777_779delinsGCT
c.385_387delinsGCT (p.Phe129Ala)
c.19_21delinsGCT (p.Phe7Ala)
n.705_707delinsGCT
n.484_486delinsGCT
21g.43066358_43066360delinsATCCA2579806252CBSc.334_336delinsGAT (p.Phe112Asp)
n.645_647delinsGAT
n.777_779delinsGAT
c.385_387delinsGAT (p.Phe129Asp)
c.19_21delinsGAT (p.Phe7Asp)
n.705_707delinsGAT
n.484_486delinsGAT
21g.43066358_43066360delinsATGCA2579806245CBSc.334_336delinsCAT (p.Phe112His)
n.645_647delinsCAT
n.777_779delinsCAT
c.385_387delinsCAT (p.Phe129His)
c.19_21delinsCAT (p.Phe7His)
n.705_707delinsCAT
n.484_486delinsCAT
21g.43066358_43066360delinsCACCA2579806237CBSc.334_336delinsGTG (p.Phe112Val)
n.645_647delinsGTG
n.777_779delinsGTG
c.385_387delinsGTG (p.Phe129Val)
c.19_21delinsGTG (p.Phe7Val)
n.705_707delinsGTG
n.484_486delinsGTG
21g.43066358_43066360delinsCAGCA2579806244CBSc.334_336delinsCTG (p.Phe112Leu)
n.645_647delinsCTG
n.777_779delinsCTG
c.385_387delinsCTG (p.Phe129Leu)
c.19_21delinsCTG (p.Phe7Leu)
n.705_707delinsCTG
n.484_486delinsCTG
21g.43066358_43066360delinsCCCCA2579806246CBSc.334_336delinsGGG (p.Phe112Gly)
n.645_647delinsGGG
n.777_779delinsGGG
c.385_387delinsGGG (p.Phe129Gly)
c.19_21delinsGGG (p.Phe7Gly)
n.705_707delinsGGG
n.484_486delinsGGG
21g.43066358_43066360delinsCCGCA2579806253CBSc.334_336delinsCGG (p.Phe112Arg)
n.645_647delinsCGG
n.777_779delinsCGG
c.385_387delinsCGG (p.Phe129Arg)
c.19_21delinsCGG (p.Phe7Arg)
n.705_707delinsCGG
n.484_486delinsCGG
21g.43066358_43066360delinsCGCCA2579806256CBSc.334_336delinsGCG (p.Phe112Ala)
n.645_647delinsGCG
n.777_779delinsGCG
c.385_387delinsGCG (p.Phe129Ala)
c.19_21delinsGCG (p.Phe7Ala)
n.705_707delinsGCG
n.484_486delinsGCG
21g.43066358_43066360delinsCTCCA2579806249CBSc.334_336delinsGAG (p.Phe112Glu)
n.645_647delinsGAG
n.777_779delinsGAG
c.385_387delinsGAG (p.Phe129Glu)
c.19_21delinsGAG (p.Phe7Glu)
n.705_707delinsGAG
n.484_486delinsGAG
21g.43066358_43066360delinsCTGCA2579806250CBSc.334_336delinsCAG (p.Phe112Gln)
n.645_647delinsCAG
n.777_779delinsCAG
c.385_387delinsCAG (p.Phe129Gln)
c.19_21delinsCAG (p.Phe7Gln)
n.705_707delinsCAG
n.484_486delinsCAG
21g.43066359A>CCA410601918CBSc.335T>G (p.Phe112Cys)
n.646T>G
n.778T>G
c.386T>G (p.Phe129Cys)
c.20T>G (p.Phe7Cys)
n.706T>G
n.485T>G
21g.43066359A>GCA410601919CBSc.335T>C (p.Phe112Ser)
n.646T>C
n.778T>C
c.386T>C (p.Phe129Ser)
c.20T>C (p.Phe7Ser)
n.706T>C
n.485T>C
21g.43066359A>TCA410601920CBSc.335T>A (p.Phe112Tyr)
n.646T>A
n.778T>A
c.386T>A (p.Phe129Tyr)
c.20T>A (p.Phe7Tyr)
n.706T>A
n.485T>A
21g.43066360A>CCA410601921CBSc.334T>G (p.Phe112Val)
n.645T>G
n.777T>G
c.385T>G (p.Phe129Val)
c.19T>G (p.Phe7Val)
n.705T>G
n.484T>G
21g.43066360A>GCA410601922CBSc.334T>C (p.Phe112Leu)
n.645T>C
n.777T>C
c.385T>C (p.Phe129Leu)
c.19T>C (p.Phe7Leu)
n.705T>C
n.484T>C
21g.43066360A>TCA410601923CBSc.334T>A (p.Phe112Ile)
n.645T>A
n.777T>A
c.385T>A (p.Phe129Ile)
c.19T>A (p.Phe7Ile)
n.705T>A
n.484T>A
21g.43066361G>ACA2579806267CBSc.333C>T (p.Phe111=)
n.644C>T
n.776C>T
c.384C>T (p.Phe128=)
c.18C>T (p.Phe6=)
n.704C>T
n.483C>T
 ClinVar
21g.43066361G>CCA410601924CBSc.333C>G (p.Phe111Leu)
n.644C>G
n.776C>G
c.384C>G (p.Phe128Leu)
c.18C>G (p.Phe6Leu)
n.704C>G
n.483C>G
21g.43066361G>TCA410601925CBSc.333C>A (p.Phe111Leu)
n.644C>A
n.776C>A
c.384C>A (p.Phe128Leu)
c.18C>A (p.Phe6Leu)
n.704C>A
n.483C>A
21g.43066361_43066362delinsACCA2579806264CBSc.332_333delinsGT (p.Phe111Cys)
n.643_644delinsGT
n.775_776delinsGT
c.383_384delinsGT (p.Phe128Cys)
c.17_18delinsGT (p.Phe6Cys)
n.703_704delinsGT
n.482_483delinsGT
21g.43066361_43066362delinsAGCA2579806260CBSc.332_333delinsCT (p.Phe111Ser)
n.643_644delinsCT
n.775_776delinsCT
c.383_384delinsCT (p.Phe128Ser)
c.17_18delinsCT (p.Phe6Ser)
n.703_704delinsCT
n.482_483delinsCT
21g.43066361_43066362delinsCCCA2579806259CBSc.332_333delinsGG (p.Phe111Trp)
n.643_644delinsGG
n.775_776delinsGG
c.383_384delinsGG (p.Phe128Trp)
c.17_18delinsGG (p.Phe6Trp)
n.703_704delinsGG
n.482_483delinsGG
21g.43066361_43066363delinsAACCA2579806258CBSc.331_333delinsGTT (p.Phe111Val)
n.642_644delinsGTT
n.774_776delinsGTT
c.382_384delinsGTT (p.Phe128Val)
c.16_18delinsGTT (p.Phe6Val)
n.702_704delinsGTT
n.481_483delinsGTT
21g.43066361_43066363delinsACCCA2579806261CBSc.331_333delinsGGT (p.Phe111Gly)
n.642_644delinsGGT
n.774_776delinsGGT
c.382_384delinsGGT (p.Phe128Gly)
c.16_18delinsGGT (p.Phe6Gly)
n.702_704delinsGGT
n.481_483delinsGGT
21g.43066361_43066363delinsAGCCA2579806265CBSc.331_333delinsGCT (p.Phe111Ala)
n.642_644delinsGCT
n.774_776delinsGCT
c.382_384delinsGCT (p.Phe128Ala)
c.16_18delinsGCT (p.Phe6Ala)
n.702_704delinsGCT
n.481_483delinsGCT
21g.43066361_43066363delinsCACCA2579806257CBSc.331_333delinsGTG (p.Phe111Val)
n.642_644delinsGTG
n.774_776delinsGTG
c.382_384delinsGTG (p.Phe128Val)
c.16_18delinsGTG (p.Phe6Val)
n.702_704delinsGTG
n.481_483delinsGTG
21g.43066361_43066363delinsCCCCA2579806262CBSc.331_333delinsGGG (p.Phe111Gly)
n.642_644delinsGGG
n.774_776delinsGGG
c.382_384delinsGGG (p.Phe128Gly)
c.16_18delinsGGG (p.Phe6Gly)
n.702_704delinsGGG
n.481_483delinsGGG
21g.43066361_43066363delinsCGCCA2579806266CBSc.331_333delinsGCG (p.Phe111Ala)
n.642_644delinsGCG
n.774_776delinsGCG
c.382_384delinsGCG (p.Phe128Ala)
c.16_18delinsGCG (p.Phe6Ala)
n.702_704delinsGCG
n.481_483delinsGCG
21g.43066361_43066363delinsCTGCA2579806263CBSc.331_333delinsCAG (p.Phe111Gln)
n.642_644delinsCAG
n.774_776delinsCAG
c.382_384delinsCAG (p.Phe128Gln)
c.16_18delinsCAG (p.Phe6Gln)
n.702_704delinsCAG
n.481_483delinsCAG
21g.43066362A>CCA410601926CBSc.332T>G (p.Phe111Cys)
n.643T>G
n.775T>G
c.383T>G (p.Phe128Cys)
c.17T>G (p.Phe6Cys)
n.703T>G
n.482T>G
21g.43066362A>GCA410601927CBSc.332T>C (p.Phe111Ser)
n.643T>C
n.775T>C
c.383T>C (p.Phe128Ser)
c.17T>C (p.Phe6Ser)
n.703T>C
n.482T>C
21g.43066362A>TCA410601928CBSc.332T>A (p.Phe111Tyr)
n.643T>A
n.775T>A
c.383T>A (p.Phe128Tyr)
c.17T>A (p.Phe6Tyr)
n.703T>A
n.482T>A
21g.43066363A>CCA410601931CBSc.331T>G (p.Phe111Val)
n.642T>G
n.774T>G
c.382T>G (p.Phe128Val)
c.16T>G (p.Phe6Val)
n.702T>G
n.481T>G
21g.43066363A>GCA410601930CBSc.331T>C (p.Phe111Leu)
n.642T>C
n.774T>C
c.382T>C (p.Phe128Leu)
c.16T>C (p.Phe6Leu)
n.702T>C
n.481T>C
21g.43066363A>TCA410601929CBSc.331T>A (p.Phe111Ile)
n.642T>A
n.774T>A
c.382T>A (p.Phe128Ile)
c.16T>A (p.Phe6Ile)
n.702T>A
n.481T>A
21g.43066364C>ACA410601932CBSc.330G>T (p.Glu110Asp)
n.641G>T
n.773G>T
c.381G>T (p.Glu127Asp)
c.15G>T (p.Glu5Asp)
n.701G>T
n.480G>T
21g.43066364C>GCA410601933CBSc.330G>C (p.Glu110Asp)
n.641G>C
n.773G>C
c.381G>C (p.Glu127Asp)
c.15G>C (p.Glu5Asp)
n.701G>C
n.480G>C
21g.43066364C>TCA2573157497CBSc.330G>A (p.Glu110=)
n.641G>A
n.773G>A
c.381G>A (p.Glu127=)
c.15G>A (p.Glu5=)
n.701G>A
n.480G>A
 ClinVar dbSNP
21g.43066364_43066365delinsAACA2579810230CBSc.329_330delinsTT (p.Glu110Val)
n.640_641delinsTT
n.772_773delinsTT
c.380_381delinsTT (p.Glu127Val)
c.14_15delinsTT (p.Glu5Val)
n.700_701delinsTT
n.479_480delinsTT
21g.43066364_43066365delinsACCA2579810830CBSc.329_330delinsGT (p.Glu110Gly)
n.640_641delinsGT
n.772_773delinsGT
c.380_381delinsGT (p.Glu127Gly)
c.14_15delinsGT (p.Glu5Gly)
n.700_701delinsGT
n.479_480delinsGT
21g.43066364_43066366delinsAAACA2579810825CBSc.328_330delinsTTT (p.Glu110Phe)
n.639_641delinsTTT
n.771_773delinsTTT
c.379_381delinsTTT (p.Glu127Phe)
c.13_15delinsTTT (p.Glu5Phe)
n.699_701delinsTTT
n.478_480delinsTTT
21g.43066364_43066366delinsAAGCA2579810827CBSc.328_330delinsCTT (p.Glu110Leu)
n.639_641delinsCTT
n.771_773delinsCTT
c.379_381delinsCTT (p.Glu127Leu)
c.13_15delinsCTT (p.Glu5Leu)
n.699_701delinsCTT
n.478_480delinsCTT
21g.43066364_43066366delinsACACA2579810831CBSc.328_330delinsTGT (p.Glu110Cys)
n.639_641delinsTGT
n.771_773delinsTGT
c.379_381delinsTGT (p.Glu127Cys)
c.13_15delinsTGT (p.Glu5Cys)
n.699_701delinsTGT
n.478_480delinsTGT
21g.43066364_43066366delinsACGCA2579810832CBSc.328_330delinsCGT (p.Glu110Arg)
n.639_641delinsCGT
n.771_773delinsCGT
c.379_381delinsCGT (p.Glu127Arg)
c.13_15delinsCGT (p.Glu5Arg)
n.699_701delinsCGT
n.478_480delinsCGT
21g.43066364_43066366delinsAGACA2579810234CBSc.328_330delinsTCT (p.Glu110Ser)
n.639_641delinsTCT
n.771_773delinsTCT
c.379_381delinsTCT (p.Glu127Ser)
c.13_15delinsTCT (p.Glu5Ser)
n.699_701delinsTCT
n.478_480delinsTCT
21g.43066364_43066366delinsAGGCA2579810824CBSc.328_330delinsCCT (p.Glu110Pro)
n.639_641delinsCCT
n.771_773delinsCCT
c.379_381delinsCCT (p.Glu127Pro)
c.13_15delinsCCT (p.Glu5Pro)
n.699_701delinsCCT
n.478_480delinsCCT
21g.43066364_43066366delinsAGTCA2579810232CBSc.328_330delinsACT (p.Glu110Thr)
n.639_641delinsACT
n.771_773delinsACT
c.379_381delinsACT (p.Glu127Thr)
c.13_15delinsACT (p.Glu5Thr)
n.699_701delinsACT
n.478_480delinsACT
21g.43066364_43066366delinsATACA2579810231CBSc.328_330delinsTAT (p.Glu110Tyr)
n.639_641delinsTAT
n.771_773delinsTAT
c.379_381delinsTAT (p.Glu127Tyr)
c.13_15delinsTAT (p.Glu5Tyr)
n.699_701delinsTAT
n.478_480delinsTAT
21g.43066364_43066366delinsATGCA2579810829CBSc.328_330delinsCAT (p.Glu110His)
n.639_641delinsCAT
n.771_773delinsCAT
c.379_381delinsCAT (p.Glu127His)
c.13_15delinsCAT (p.Glu5His)
n.699_701delinsCAT
n.478_480delinsCAT
21g.43066365T>ACA410601934CBSc.329A>T (p.Glu110Val)
n.640A>T
n.772A>T
c.380A>T (p.Glu127Val)
c.14A>T (p.Glu5Val)
n.700A>T
n.479A>T
21g.43066365T>CCA410601935CBSc.329A>G (p.Glu110Gly)
n.640A>G
n.772A>G
c.380A>G (p.Glu127Gly)
c.14A>G (p.Glu5Gly)
n.700A>G
n.479A>G
21g.43066365T>GCA410601936CBSc.329A>C (p.Glu110Ala)
n.640A>C
n.772A>C
c.380A>C (p.Glu127Ala)
c.14A>C (p.Glu5Ala)
n.700A>C
n.479A>C
21g.43066365_43066366delinsAACA2579810828CBSc.328_329delinsTT (p.Glu110Leu)
n.639_640delinsTT
n.771_772delinsTT
c.379_380delinsTT (p.Glu127Leu)
c.13_14delinsTT (p.Glu5Leu)
n.699_700delinsTT
n.478_479delinsTT
21g.43066365_43066366delinsAGCA2579810826CBSc.328_329delinsCT (p.Glu110Leu)
n.639_640delinsCT
n.771_772delinsCT
c.379_380delinsCT (p.Glu127Leu)
c.13_14delinsCT (p.Glu5Leu)
n.699_700delinsCT
n.478_479delinsCT
21g.43066365_43066366delinsATCA2579813763CBSc.328_329delinsAT (p.Glu110Met)
n.639_640delinsAT
n.771_772delinsAT
c.379_380delinsAT (p.Glu127Met)
c.13_14delinsAT (p.Glu5Met)
n.699_700delinsAT
n.478_479delinsAT
21g.43066365_43066366delinsCGCA2579810833CBSc.328_329delinsCG (p.Glu110Arg)
n.639_640delinsCG
n.771_772delinsCG
c.379_380delinsCG (p.Glu127Arg)
c.13_14delinsCG (p.Glu5Arg)
n.699_700delinsCG
n.478_479delinsCG
21g.43066365_43066366delinsGACA2579810233CBSc.328_329delinsTC (p.Glu110Ser)
n.639_640delinsTC
n.771_772delinsTC
c.379_380delinsTC (p.Glu127Ser)
c.13_14delinsTC (p.Glu5Ser)
n.699_700delinsTC
n.478_479delinsTC
21g.43066366C>ACA410601937CBSc.328G>T (p.Glu110Ter)
n.639G>T
n.771G>T
c.379G>T (p.Glu127Ter)
c.13G>T (p.Glu5Ter)
n.699G>T
n.478G>T
21g.43066366C>GCA410601938CBSc.328G>C (p.Glu110Gln)
n.639G>C
n.771G>C
c.379G>C (p.Glu127Gln)
c.13G>C (p.Glu5Gln)
n.699G>C
n.478G>C
21g.43066366C>TCA410601939CBSc.328G>A (p.Glu110Lys)
n.639G>A
n.771G>A
c.379G>A (p.Glu127Lys)
c.13G>A (p.Glu5Lys)
n.699G>A
n.478G>A
21g.43066367A>CCA410601940CBSc.327T>G (p.Cys109Trp)
n.638T>G
n.770T>G
c.378T>G (p.Cys126Trp)
c.12T>G (p.Cys4Trp)
n.698T>G
n.477T>G
21g.43066367A>TCA410601941CBSc.327T>A (p.Cys109Ter)
n.638T>A
n.770T>A
c.378T>A (p.Cys126Ter)
c.12T>A (p.Cys4Ter)
n.698T>A
n.477T>A
21g.43066367_43066368delinsCACA2579811011CBSc.326_327delinsTG (p.Cys109Leu)
n.637_638delinsTG
n.769_770delinsTG
c.377_378delinsTG (p.Cys126Leu)
c.11_12delinsTG (p.Cys4Leu)
n.697_698delinsTG
n.476_477delinsTG
21g.43066367_43066369delinsCAGCA2579811012CBSc.325_327delinsCTG (p.Cys109Leu)
n.636_638delinsCTG
n.768_770delinsCTG
c.376_378delinsCTG (p.Cys126Leu)
c.10_12delinsCTG (p.Cys4Leu)
n.696_698delinsCTG
n.475_477delinsCTG
21g.43066367_43066369delinsCCCCA2579811014CBSc.325_327delinsGGG (p.Cys109Gly)
n.636_638delinsGGG
n.768_770delinsGGG
c.376_378delinsGGG (p.Cys126Gly)
c.10_12delinsGGG (p.Cys4Gly)
n.696_698delinsGGG
n.475_477delinsGGG
21g.43066367_43066369delinsCCGCA2579811019CBSc.325_327delinsCGG (p.Cys109Arg)
n.636_638delinsCGG
n.768_770delinsCGG
c.376_378delinsCGG (p.Cys126Arg)
c.10_12delinsCGG (p.Cys4Arg)
n.696_698delinsCGG
n.475_477delinsCGG
21g.43066367_43066369delinsCTTCA2579811009CBSc.325_327delinsAAG (p.Cys109Lys)
n.636_638delinsAAG
n.768_770delinsAAG
c.376_378delinsAAG (p.Cys126Lys)
c.10_12delinsAAG (p.Cys4Lys)
n.696_698delinsAAG
n.475_477delinsAAG
21g.43066368C>ACA410601942CBSc.326G>T (p.Cys109Phe)
n.637G>T
n.769G>T
c.377G>T (p.Cys126Phe)
c.11G>T (p.Cys4Phe)
n.697G>T
n.476G>T
 gnomAD v4
21g.43066368C>GCA410601943CBSc.326G>C (p.Cys109Ser)
n.637G>C
n.769G>C
c.377G>C (p.Cys126Ser)
c.11G>C (p.Cys4Ser)
n.697G>C
n.476G>C
21g.43066368C>TCA410601944CBSc.326G>A (p.Cys109Tyr)
n.637G>A
n.769G>A
c.377G>A (p.Cys126Tyr)
c.11G>A (p.Cys4Tyr)
n.697G>A
n.476G>A
 ClinVar gnomAD v4
21g.43066368_43066369delinsACCA2579811010CBSc.325_326delinsGT (p.Cys109Val)
n.636_637delinsGT
n.768_769delinsGT
c.376_377delinsGT (p.Cys126Val)
c.10_11delinsGT (p.Cys4Val)
n.696_697delinsGT
n.475_476delinsGT
21g.43066368_43066369delinsATCA2579811015CBSc.325_326delinsAT (p.Cys109Ile)
n.636_637delinsAT
n.768_769delinsAT
c.376_377delinsAT (p.Cys126Ile)
c.10_11delinsAT (p.Cys4Ile)
n.696_697delinsAT
n.475_476delinsAT
21g.43066368_43066369delinsGCCA2579811018CBSc.325_326delinsGC (p.Cys109Ala)
n.636_637delinsGC
n.768_769delinsGC
c.376_377delinsGC (p.Cys126Ala)
c.10_11delinsGC (p.Cys4Ala)
n.696_697delinsGC
n.475_476delinsGC
21g.43066368_43066369delinsTCCA2579811016CBSc.325_326delinsGA (p.Cys109Asp)
n.636_637delinsGA
n.768_769delinsGA
c.376_377delinsGA (p.Cys126Asp)
c.10_11delinsGA (p.Cys4Asp)
n.696_697delinsGA
n.475_476delinsGA
21g.43066368_43066369delinsTGCA2579811013CBSc.325_326delinsCA (p.Cys109His)
n.636_637delinsCA
n.768_769delinsCA
c.376_377delinsCA (p.Cys126His)
c.10_11delinsCA (p.Cys4His)
n.696_697delinsCA
n.475_476delinsCA
21g.43066368_43066369delinsTTCA2579811017CBSc.325_326delinsAA (p.Cys109Asn)
n.636_637delinsAA
n.768_769delinsAA
c.376_377delinsAA (p.Cys126Asn)
c.10_11delinsAA (p.Cys4Asn)
n.696_697delinsAA
n.475_476delinsAA
21g.43066369A=CA2391104187CBSc.325T= (p.Cys109=)
n.636T=
n.768T=
c.376T= (p.Cys126=)
c.10T= (p.Cys4=)
n.696T=
n.475T=
21g.43066369A>CCA410601946CBSc.325T>G (p.Cys109Gly)
n.636T>G
n.768T>G
c.376T>G (p.Cys126Gly)
c.10T>G (p.Cys4Gly)
n.696T>G
n.475T>G
 gnomAD v3 gnomAD v4
21g.43066369A>GCA324303CBSc.325T>C (p.Cys109Arg)
n.636T>C
n.768T>C
c.376T>C (p.Cys126Arg)
c.10T>C (p.Cys4Arg)
n.696T>C
n.475T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066369A>TCA410601945CBSc.325T>A (p.Cys109Ser)
n.636T>A
n.768T>A
c.376T>A (p.Cys126Ser)
c.10T>A (p.Cys4Ser)
n.696T>A
n.475T>A
21g.43066370C>ACA410601947CBSc.324G>T (p.Lys108Asn)
n.635G>T
n.767G>T
c.375G>T (p.Lys125Asn)
c.9G>T (p.Lys3Asn)
n.695G>T
n.474G>T
21g.43066370C>GCA410601948CBSc.324G>C (p.Lys108Asn)
n.635G>C
n.767G>C
c.375G>C (p.Lys125Asn)
c.9G>C (p.Lys3Asn)
n.695G>C
n.474G>C
21g.43066370C>TCA2654728595CBSc.324G>A (p.Lys108=)
n.635G>A
n.767G>A
c.375G>A (p.Lys125=)
c.9G>A (p.Lys3=)
n.695G>A
n.474G>A
 ClinVar gnomAD v4
21g.43066370_43066371delinsAACA2579807289CBSc.323_324delinsTT (p.Lys108Ile)
n.634_635delinsTT
n.766_767delinsTT
c.374_375delinsTT (p.Lys125Ile)
c.8_9delinsTT (p.Lys3Ile)
n.694_695delinsTT
n.473_474delinsTT
21g.43066370_43066371delinsACCA2579807284CBSc.323_324delinsGT (p.Lys108Ser)
n.634_635delinsGT
n.766_767delinsGT
c.374_375delinsGT (p.Lys125Ser)
c.8_9delinsGT (p.Lys3Ser)
n.694_695delinsGT
n.473_474delinsGT
21g.43066370_43066371delinsCTCA2391104188CBSc.323_324delinsAG (p.Lys108=)
n.634_635delinsAG
n.766_767delinsAG
c.374_375delinsAG (p.Lys125=)
c.8_9delinsAG (p.Lys3=)
n.694_695delinsAG
n.473_474delinsAG
21g.43066370_43066372delinsAAACA2579807285CBSc.322_324delinsTTT (p.Lys108Phe)
n.633_635delinsTTT
n.765_767delinsTTT
c.373_375delinsTTT (p.Lys125Phe)
c.7_9delinsTTT (p.Lys3Phe)
n.693_695delinsTTT
n.472_474delinsTTT
21g.43066370_43066372delinsAAGCA2579807287CBSc.322_324delinsCTT (p.Lys108Leu)
n.633_635delinsCTT
n.765_767delinsCTT
c.373_375delinsCTT (p.Lys125Leu)
c.7_9delinsCTT (p.Lys3Leu)
n.693_695delinsCTT
n.472_474delinsCTT
21g.43066370_43066372delinsACACA2579807290CBSc.322_324delinsTGT (p.Lys108Cys)
n.633_635delinsTGT
n.765_767delinsTGT
c.373_375delinsTGT (p.Lys125Cys)
c.7_9delinsTGT (p.Lys3Cys)
n.693_695delinsTGT
n.472_474delinsTGT
21g.43066370_43066372delinsAGACA2579807281CBSc.322_324delinsTCT (p.Lys108Ser)
n.633_635delinsTCT
n.765_767delinsTCT
c.373_375delinsTCT (p.Lys125Ser)
c.7_9delinsTCT (p.Lys3Ser)
n.693_695delinsTCT
n.472_474delinsTCT
21g.43066370_43066372delinsAGGCA2579807283CBSc.322_324delinsCCT (p.Lys108Pro)
n.633_635delinsCCT
n.765_767delinsCCT
c.373_375delinsCCT (p.Lys125Pro)
c.7_9delinsCCT (p.Lys3Pro)
n.693_695delinsCCT
n.472_474delinsCCT
21g.43066370_43066372delinsATACA2579807279CBSc.322_324delinsTAT (p.Lys108Tyr)
n.633_635delinsTAT
n.765_767delinsTAT
c.373_375delinsTAT (p.Lys125Tyr)
c.7_9delinsTAT (p.Lys3Tyr)
n.693_695delinsTAT
n.472_474delinsTAT
21g.43066371T>ACA410601949CBSc.323A>T (p.Lys108Met)
n.634A>T
n.766A>T
c.374A>T (p.Lys125Met)
c.8A>T (p.Lys3Met)
n.694A>T
n.473A>T
21g.43066371T>CCA410601950CBSc.323A>G (p.Lys108Arg)
n.634A>G
n.766A>G
c.374A>G (p.Lys125Arg)
c.8A>G (p.Lys3Arg)
n.694A>G
n.473A>G
 ClinVar dbSNP
21g.43066371T>GCA410601951CBSc.323A>C (p.Lys108Thr)
n.634A>C
n.766A>C
c.374A>C (p.Lys125Thr)
c.8A>C (p.Lys3Thr)
n.694A>C
n.473A>C
21g.43066371_43066372delinsAACA2579807288CBSc.322_323delinsTT (p.Lys108Leu)
n.633_634delinsTT
n.765_766delinsTT
c.373_374delinsTT (p.Lys125Leu)
c.7_8delinsTT (p.Lys3Leu)
n.693_694delinsTT
n.472_473delinsTT
21g.43066371_43066372delinsACCA2579807278CBSc.322_323delinsGT (p.Lys108Val)
n.633_634delinsGT
n.765_766delinsGT
c.373_374delinsGT (p.Lys125Val)
c.7_8delinsGT (p.Lys3Val)
n.693_694delinsGT
n.472_473delinsGT
21g.43066371_43066372delinsAGCA2579807286CBSc.322_323delinsCT (p.Lys108Leu)
n.633_634delinsCT
n.765_766delinsCT
c.373_374delinsCT (p.Lys125Leu)
c.7_8delinsCT (p.Lys3Leu)
n.693_694delinsCT
n.472_473delinsCT
21g.43066371_43066372delinsCACA2579807280CBSc.322_323delinsTG (p.Lys108Trp)
n.633_634delinsTG
n.765_766delinsTG
c.373_374delinsTG (p.Lys125Trp)
c.7_8delinsTG (p.Lys3Trp)
n.693_694delinsTG
n.472_473delinsTG
21g.43066371_43066372delinsCCCA2579807292CBSc.322_323delinsGG (p.Lys108Gly)
n.633_634delinsGG
n.765_766delinsGG
c.373_374delinsGG (p.Lys125Gly)
c.7_8delinsGG (p.Lys3Gly)
n.693_694delinsGG
n.472_473delinsGG
21g.43066371_43066372delinsCGCA2579807291CBSc.322_323delinsCG (p.Lys108Arg)
n.633_634delinsCG
n.765_766delinsCG
c.373_374delinsCG (p.Lys125Arg)
c.7_8delinsCG (p.Lys3Arg)
n.693_694delinsCG
n.472_473delinsCG
21g.43066371_43066372delinsGACA2579807282CBSc.322_323delinsTC (p.Lys108Ser)
n.633_634delinsTC
n.765_766delinsTC
c.373_374delinsTC (p.Lys125Ser)
c.7_8delinsTC (p.Lys3Ser)
n.693_694delinsTC
n.472_473delinsTC
21g.43066371_43066372delinsGCCA2579807293CBSc.322_323delinsGC (p.Lys108Ala)
n.633_634delinsGC
n.765_766delinsGC
c.373_374delinsGC (p.Lys125Ala)
c.7_8delinsGC (p.Lys3Ala)
n.693_694delinsGC
n.472_473delinsGC
21g.43066372delCA749580387CBSc.323del (p.Lys108SerfsTer11)
n.634del
n.766del
c.374del (p.Lys125SerfsTer11)
c.8del (p.Lys3SerfsTer11)
n.694del
n.473del
 ClinVar dbSNP gnomAD v4
21g.43066372T>ACA410601952CBSc.322A>T (p.Lys108Ter)
n.633A>T
n.765A>T
c.373A>T (p.Lys125Ter)
c.7A>T (p.Lys3Ter)
n.693A>T
n.472A>T
21g.43066372T>CCA410601953CBSc.322A>G (p.Lys108Glu)
n.633A>G
n.765A>G
c.373A>G (p.Lys125Glu)
c.7A>G (p.Lys3Glu)
n.693A>G
n.472A>G
21g.43066372T>GCA410601954CBSc.322A>C (p.Lys108Gln)
n.633A>C
n.765A>C
c.373A>C (p.Lys125Gln)
c.7A>C (p.Lys3Gln)
n.693A>C
n.472A>C
21g.43066373G>ACA658799454CBSc.321C>T (p.Ala107=)
n.632C>T
n.764C>T
c.372C>T (p.Ala124=)
c.6C>T (p.Ala2=)
n.692C>T
n.471C>T
 ClinVar dbSNP
21g.43066373G=CA2391104189CBSc.321C= (p.Ala107=)
n.632C=
n.764C=
c.372C= (p.Ala124=)
c.6C= (p.Ala2=)
n.692C=
n.471C=
21g.43066373_43066374delinsAACA2579813941CBSc.320_321delinsTT (p.Ala107Val)
n.631_632delinsTT
n.763_764delinsTT
c.371_372delinsTT (p.Ala124Val)
c.5_6delinsTT (p.Ala2Val)
n.691_692delinsTT
n.470_471delinsTT
21g.43066373_43066374delinsACCA2579813339CBSc.320_321delinsGT (p.Ala107Gly)
n.631_632delinsGT
n.763_764delinsGT
c.371_372delinsGT (p.Ala124Gly)
c.5_6delinsGT (p.Ala2Gly)
n.691_692delinsGT
n.470_471delinsGT
21g.43066373_43066374delinsCACA2579813330CBSc.320_321delinsTG (p.Ala107Val)
n.631_632delinsTG
n.763_764delinsTG
c.371_372delinsTG (p.Ala124Val)
c.5_6delinsTG (p.Ala2Val)
n.691_692delinsTG
n.470_471delinsTG
21g.43066373_43066375delinsAAACA2579813334CBSc.319_321delinsTTT (p.Ala107Phe)
n.630_632delinsTTT
n.762_764delinsTTT
c.370_372delinsTTT (p.Ala124Phe)
c.4_6delinsTTT (p.Ala2Phe)
n.690_692delinsTTT
n.469_471delinsTTT
21g.43066373_43066375delinsAAGCA2579813337CBSc.319_321delinsCTT (p.Ala107Leu)
n.630_632delinsCTT
n.762_764delinsCTT
c.370_372delinsCTT (p.Ala124Leu)
c.4_6delinsCTT (p.Ala2Leu)
n.690_692delinsCTT
n.469_471delinsCTT
21g.43066373_43066375delinsAATCA2579813338CBSc.319_321delinsATT (p.Ala107Ile)
n.630_632delinsATT
n.762_764delinsATT
c.370_372delinsATT (p.Ala124Ile)
c.4_6delinsATT (p.Ala2Ile)
n.690_692delinsATT
n.469_471delinsATT
21g.43066373_43066375delinsACACA2579813340CBSc.319_321delinsTGT (p.Ala107Cys)
n.630_632delinsTGT
n.762_764delinsTGT
c.370_372delinsTGT (p.Ala124Cys)
c.4_6delinsTGT (p.Ala2Cys)
n.690_692delinsTGT
n.469_471delinsTGT
21g.43066373_43066375delinsAGACA2579813335CBSc.319_321delinsTCT (p.Ala107Ser)
n.630_632delinsTCT
n.762_764delinsTCT
c.370_372delinsTCT (p.Ala124Ser)
c.4_6delinsTCT (p.Ala2Ser)
n.690_692delinsTCT
n.469_471delinsTCT
21g.43066373_43066375delinsAGTCA2579813332CBSc.319_321delinsACT (p.Ala107Thr)
n.630_632delinsACT
n.762_764delinsACT
c.370_372delinsACT (p.Ala124Thr)
c.4_6delinsACT (p.Ala2Thr)
n.690_692delinsACT
n.469_471delinsACT
21g.43066373_43066375delinsATACA2579813331CBSc.319_321delinsTAT (p.Ala107Tyr)
n.630_632delinsTAT
n.762_764delinsTAT
c.370_372delinsTAT (p.Ala124Tyr)
c.4_6delinsTAT (p.Ala2Tyr)
n.690_692delinsTAT
n.469_471delinsTAT
21g.43066373_43066375delinsCAGCA2579813336CBSc.319_321delinsCTG (p.Ala107Leu)
n.630_632delinsCTG
n.762_764delinsCTG
c.370_372delinsCTG (p.Ala124Leu)
c.4_6delinsCTG (p.Ala2Leu)
n.690_692delinsCTG
n.469_471delinsCTG
21g.43066373_43066375delinsCCACA2579813942CBSc.319_321delinsTGG (p.Ala107Trp)
n.630_632delinsTGG
n.762_764delinsTGG
c.370_372delinsTGG (p.Ala124Trp)
c.4_6delinsTGG (p.Ala2Trp)
n.690_692delinsTGG
n.469_471delinsTGG
21g.43066373_43066375delinsCGACA2579813333CBSc.319_321delinsTCG (p.Ala107Ser)
n.630_632delinsTCG
n.762_764delinsTCG
c.370_372delinsTCG (p.Ala124Ser)
c.4_6delinsTCG (p.Ala2Ser)
n.690_692delinsTCG
n.469_471delinsTCG
21g.43066374G>ACA410601955CBSc.320C>T (p.Ala107Val)
n.631C>T
n.763C>T
c.371C>T (p.Ala124Val)
c.5C>T (p.Ala2Val)
n.691C>T
n.470C>T
21g.43066374G>CCA410601956CBSc.320C>G (p.Ala107Gly)
n.631C>G
n.763C>G
c.371C>G (p.Ala124Gly)
c.5C>G (p.Ala2Gly)
n.691C>G
n.470C>G
21g.43066374G>TCA410601957CBSc.320C>A (p.Ala107Asp)
n.631C>A
n.763C>A
c.371C>A (p.Ala124Asp)
c.5C>A (p.Ala2Asp)
n.691C>A
n.470C>A
21g.43066375C>ACA410601960CBSc.319G>T (p.Ala107Ser)
n.630G>T
n.762G>T
c.370G>T (p.Ala124Ser)
c.4G>T (p.Ala2Ser)
n.690G>T
n.469G>T
21g.43066375C>GCA410601959CBSc.319G>C (p.Ala107Pro)
n.630G>C
n.762G>C
c.370G>C (p.Ala124Pro)
c.4G>C (p.Ala2Pro)
n.690G>C
n.469G>C
21g.43066375C>TCA410601958CBSc.319G>A (p.Ala107Thr)
n.630G>A
n.762G>A
c.370G>A (p.Ala124Thr)
c.4G>A (p.Ala2Thr)
n.690G>A
n.469G>A
 gnomAD v4
21g.43066376delCA2577615918CBSc.319del (p.Ala107ProfsTer12)
n.630del
n.762del
c.370del (p.Ala124ProfsTer12)
c.4del (p.Ala2ProfsTer12)
n.690del
n.469del
21g.43066376C>ACA410601961CBSc.318G>T (p.Leu106Phe)
n.629G>T
n.761G>T
c.369G>T (p.Val123=)
c.3G>T (p.Met1Ile)
n.689G>T
n.468G>T
 COSMIC
21g.43066376C=CA2391104190CBSc.318G= (p.Leu106=)
n.629G=
n.761G=
c.369G= (p.Val123=)
c.3G= (p.Met1=)
n.689G=
n.468G=
21g.43066376C>GCA410601962CBSc.318G>C (p.Leu106Phe)
n.629G>C
n.761G>C
c.369G>C (p.Val123=)
c.3G>C (p.Met1Ile)
n.689G>C
n.468G>C
21g.43066376C>TCA749580392CBSc.318G>A (p.Leu106=)
n.629G>A
n.761G>A
c.369G>A (p.Val123=)
c.3G>A (p.Met1Ile)
n.689G>A
n.468G>A
 dbSNP gnomAD v3 gnomAD v4
21g.43066377A>CCA410601963CBSc.317T>G (p.Leu106Trp)
n.628T>G
n.760T>G
c.368T>G (p.Val123Gly)
c.2T>G (p.Met1Arg)
n.688T>G
n.467T>G
21g.43066377A>GCA410601965CBSc.317T>C (p.Leu106Ser)
n.628T>C
n.760T>C
c.368T>C (p.Val123Ala)
c.2T>C (p.Met1Thr)
n.688T>C
n.467T>C
21g.43066377A>TCA410601964CBSc.317T>A (p.Leu106Ter)
n.628T>A
n.760T>A
c.368T>A (p.Val123Glu)
c.2T>A (p.Met1Lys)
n.688T>A
n.467T>A
21g.43066378C>ACA410601966CBSc.317-1G>T (n.317-1G>T)
n.628-1G>T
n.760-1G>T
c.368-1G>T (n.368-1G>T)
c.2-1G>T (n.2-1G>T)
n.688-1G>T
n.467-1G>T
21g.43066378C>GCA410601967CBSc.317-1G>C (n.317-1G>C)
n.628-1G>C
n.760-1G>C
c.368-1G>C (n.368-1G>C)
c.2-1G>C (n.2-1G>C)
n.688-1G>C
n.467-1G>C
21g.43066378C>TCA410601968CBSc.317-1G>A (n.317-1G>A)
n.628-1G>A
n.760-1G>A
c.368-1G>A (n.368-1G>A)
c.2-1G>A (n.2-1G>A)
n.688-1G>A
n.467-1G>A
21g.43066379T>ACA410601969CBSc.317-2A>T (n.317-2A>T)
n.628-2A>T
n.760-2A>T
c.368-2A>T (n.368-2A>T)
c.2-2A>T (n.2-2A>T)
n.688-2A>T
n.467-2A>T
21g.43066379T>CCA410601970CBSc.317-2A>G (n.317-2A>G)
n.628-2A>G
n.760-2A>G
c.368-2A>G (n.368-2A>G)
c.2-2A>G (n.2-2A>G)
n.688-2A>G
n.467-2A>G
 ClinVar dbSNP
21g.43066379T>GCA410601971CBSc.317-2A>C (n.317-2A>C)
n.628-2A>C
n.760-2A>C
c.368-2A>C (n.368-2A>C)
c.2-2A>C (n.2-2A>C)
n.688-2A>C
n.467-2A>C
 gnomAD v3 gnomAD v4
21g.43066380G>TCA2654728596CBSc.317-3C>A (n.317-3C>A)
n.628-3C>A
n.760-3C>A
c.368-3C>A (n.368-3C>A)
c.2-3C>A (n.2-3C>A)
n.688-3C>A
n.467-3C>A
 gnomAD v4
21g.43066382delCA2580099040CBSc.317-3del (n.317-3del)
n.628-3del
n.760-3del
c.368-3del (n.368-3del)
c.2-3del (n.2-3del)
n.688-3del
n.467-3del
 ClinVar
21g.43066381G>ACA749580397CBSc.317-4C>T (n.317-4C>T)
n.628-4C>T
n.760-4C>T
c.368-4C>T (n.368-4C>T)
c.2-4C>T (n.2-4C>T)
n.688-4C>T
n.467-4C>T
 ClinVar dbSNP gnomAD v4
21g.43066381G=CA2391104191CBSc.317-4C= (n.317-4C=)
n.628-4C=
n.760-4C=
c.368-4C= (n.368-4C=)
c.2-4C= (n.2-4C=)
n.688-4C=
n.467-4C=
21g.43066382G>ACA749580398CBSc.317-5C>T (n.317-5C>T)
n.628-5C>T
n.760-5C>T
c.368-5C>T (n.368-5C>T)
c.2-5C>T (n.2-5C>T)
n.688-5C>T
n.467-5C>T
 dbSNP gnomAD v4
21g.43066382G=CA2391104192CBSc.317-5C= (n.317-5C=)
n.628-5C=
n.760-5C=
c.368-5C= (n.368-5C=)
c.2-5C= (n.2-5C=)
n.688-5C=
n.467-5C=
21g.43066385delCA2654728597CBSc.317-7del (n.317-7del)
n.628-7del
n.760-7del
c.368-7del (n.368-7del)
c.2-7del (n.2-7del)
n.688-7del
n.467-7del
 gnomAD v4
21g.43066385G>ACA915952620CBSc.317-8C>T (n.317-8C>T)
n.628-8C>T
n.760-8C>T
c.368-8C>T (n.368-8C>T)
c.2-8C>T (n.2-8C>T)
n.688-8C>T
n.467-8C>T
 ClinVar dbSNP gnomAD v4
21g.43066385G>CCA2499225942CBSc.317-8C>G (n.317-8C>G)
n.628-8C>G
n.760-8C>G
c.368-8C>G (n.368-8C>G)
c.2-8C>G (n.2-8C>G)
n.688-8C>G
n.467-8C>G
 ClinVar dbSNP
21g.43066385G=CA2391104193CBSc.317-8C= (n.317-8C=)
n.628-8C=
n.760-8C=
c.368-8C= (n.368-8C=)
c.2-8C= (n.2-8C=)
n.688-8C=
n.467-8C=
21g.43066387A>GCA2499225943CBSc.317-10T>C (n.317-10T>C)
n.628-10T>C
n.760-10T>C
c.368-10T>C (n.368-10T>C)
c.2-10T>C (n.2-10T>C)
n.688-10T>C
n.467-10T>C
 ClinVar dbSNP
21g.43066388G>CCA2818001118CBSc.317-11C>G (n.317-11C>G)
n.628-11C>G
n.760-11C>G
c.368-11C>G (n.368-11C>G)
c.2-11C>G (n.2-11C>G)
n.688-11C>G
n.467-11C>G
21g.43066390G>ACA749580399CBSc.317-13C>T (n.317-13C>T)
n.628-13C>T
n.760-13C>T
c.368-13C>T (n.368-13C>T)
c.2-13C>T (n.2-13C>T)
n.688-13C>T
n.467-13C>T
 dbSNP
21g.43066390G=CA2391104194CBSc.317-13C= (n.317-13C=)
n.628-13C=
n.760-13C=
c.368-13C= (n.368-13C=)
c.2-13C= (n.2-13C=)
n.688-13C=
n.467-13C=
21g.43066390G>TCA2654728598CBSc.317-13C>A (n.317-13C>A)
n.628-13C>A
n.760-13C>A
c.368-13C>A (n.368-13C>A)
c.2-13C>A (n.2-13C>A)
n.688-13C>A
n.467-13C>A
 gnomAD v4
21g.43066391A>TCA2654728599CBSc.317-14T>A (n.317-14T>A)
n.628-14T>A
n.760-14T>A
c.368-14T>A (n.368-14T>A)
c.2-14T>A (n.2-14T>A)
n.688-14T>A
n.467-14T>A
 gnomAD v4
21g.43066392T>ACA2654728600CBSc.317-15A>T (n.317-15A>T)
n.628-15A>T
n.760-15A>T
c.368-15A>T (n.368-15A>T)
c.2-15A>T (n.2-15A>T)
n.688-15A>T
n.467-15A>T
 ClinVar gnomAD v4
21g.43066392T>CCA2573157499CBSc.317-15A>G (n.317-15A>G)
n.628-15A>G
n.760-15A>G
c.368-15A>G (n.368-15A>G)
c.2-15A>G (n.2-15A>G)
n.688-15A>G
n.467-15A>G
 ClinVar dbSNP
21g.43066393G>CCA321097903CBSc.317-16C>G (n.317-16C>G)
n.628-16C>G
n.760-16C>G
c.368-16C>G (n.368-16C>G)
c.2-16C>G (n.2-16C>G)
n.688-16C>G
n.467-16C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066393G=CA2391104195CBSc.317-16C= (n.317-16C=)
n.628-16C=
n.760-16C=
c.368-16C= (n.368-16C=)
c.2-16C= (n.2-16C=)
n.688-16C=
n.467-16C=
21g.43066393G>TCA2654728601CBSc.317-16C>A (n.317-16C>A)
n.628-16C>A
n.760-16C>A
c.368-16C>A (n.368-16C>A)
c.2-16C>A (n.2-16C>A)
n.688-16C>A
n.467-16C>A
 gnomAD v4
21g.43066395A>CCA2818001119CBSc.317-18T>G (n.317-18T>G)
n.628-18T>G
n.760-18T>G
c.368-18T>G (n.368-18T>G)
c.2-18T>G (n.2-18T>G)
n.688-18T>G
n.467-18T>G
21g.43066399_43066400delCA2580615213CBSc.317-21_317-20del (n.317-21_317-20del)
n.628-21_628-20del
n.760-21_760-20del
c.368-21_368-20del (n.368-21_368-20del)
c.2-21_2-20del (n.2-21_2-20del)
n.688-21_688-20del
n.467-21_467-20del
 ClinVar
21g.43066398A>CCA2654728602CBSc.317-21T>G (n.317-21T>G)
n.628-21T>G
n.760-21T>G
c.368-21T>G (n.368-21T>G)
c.2-21T>G (n.2-21T>G)
n.688-21T>G
n.467-21T>G
 gnomAD v4
21g.43066399C=CA2391104196CBSc.317-22G= (n.317-22G=)
n.628-22G=
n.760-22G=
c.368-22G= (n.368-22G=)
c.2-22G= (n.2-22G=)
n.688-22G=
n.467-22G=
21g.43066399C>TCA321097908CBSc.317-22G>A (n.317-22G>A)
n.628-22G>A
n.760-22G>A
c.368-22G>A (n.368-22G>A)
c.2-22G>A (n.2-22G>A)
n.688-22G>A
n.467-22G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43066401G>ACA657667345CBSc.317-24C>T (n.317-24C>T)
n.628-24C>T
n.760-24C>T
c.368-24C>T (n.368-24C>T)
c.2-24C>T (n.2-24C>T)
n.688-24C>T
n.467-24C>T
 COSMIC COSMIC
21g.43066404G>ACA321097910CBSc.317-27C>T (n.317-27C>T)
n.628-27C>T
n.760-27C>T
c.368-27C>T (n.368-27C>T)
c.2-27C>T (n.2-27C>T)
n.688-27C>T
n.467-27C>T
 dbSNP
21g.43066404G=CA2391104197CBSc.317-27C= (n.317-27C=)
n.628-27C=
n.760-27C=
c.368-27C= (n.368-27C=)
c.2-27C= (n.2-27C=)
n.688-27C=
n.467-27C=
21g.43066405G>ACA749580401CBSc.317-28C>T (n.317-28C>T)
n.628-28C>T
n.760-28C>T
c.368-28C>T (n.368-28C>T)
c.2-28C>T (n.2-28C>T)
n.688-28C>T
n.467-28C>T
 dbSNP
21g.43066405G=CA2391104198CBSc.317-28C= (n.317-28C=)
n.628-28C=
n.760-28C=
c.368-28C= (n.368-28C=)
c.2-28C= (n.2-28C=)
n.688-28C=
n.467-28C=
21g.43066406G>ACA2577615920CBSc.317-29C>T (n.317-29C>T)
n.628-29C>T
n.760-29C>T
c.368-29C>T (n.368-29C>T)
c.2-29C>T (n.2-29C>T)
n.688-29C>T
n.467-29C>T
21g.43066406G>CCA2737802360CBSc.317-29C>G (n.317-29C>G)
n.628-29C>G
n.760-29C>G
c.368-29C>G (n.368-29C>G)
c.2-29C>G (n.2-29C>G)
n.688-29C>G
n.467-29C>G
 dbSNP
21g.43066406_43066407delinsGACA2391104199CBSc.317-30_317-29delinsTC (n.317-30_317-29delinsTC)
n.628-30_628-29delinsTC
n.760-30_760-29delinsTC
c.368-30_368-29delinsTC (n.368-30_368-29delinsTC)
c.2-30_2-29delinsTC (n.2-30_2-29delinsTC)
n.688-30_688-29delinsTC
n.467-30_467-29delinsTC
21g.43066407delCA2391104202CBSc.317-30del (n.317-30del)
n.628-30del
n.760-30del
c.368-30del (n.368-30del)
c.2-30del (n.2-30del)
n.688-30del
n.467-30del
 dbSNP
21g.43066407A=CA2391104200CBSc.317-30T= (n.317-30T=)
n.628-30T=
n.760-30T=
c.368-30T= (n.368-30T=)
c.2-30T= (n.2-30T=)
n.688-30T=
n.467-30T=
21g.43066407A>CCA749580403CBSc.317-30T>G (n.317-30T>G)
n.628-30T>G
n.760-30T>G
c.368-30T>G (n.368-30T>G)
c.2-30T>G (n.2-30T>G)
n.688-30T>G
n.467-30T>G
 dbSNP gnomAD v3 gnomAD v4
21g.43066407A>GCA2391104201CBSc.317-30T>C (n.317-30T>C)
n.628-30T>C
n.760-30T>C
c.368-30T>C (n.368-30T>C)
c.2-30T>C (n.2-30T>C)
n.688-30T>C
n.467-30T>C
 dbSNP
21g.43066407A>TCA2654728603CBSc.317-30T>A (n.317-30T>A)
n.628-30T>A
n.760-30T>A
c.368-30T>A (n.368-30T>A)
c.2-30T>A (n.2-30T>A)
n.688-30T>A
n.467-30T>A
 gnomAD v4
21g.43066408C>ACA2391104204CBSc.317-31G>T (n.317-31G>T)
n.628-31G>T
n.760-31G>T
c.368-31G>T (n.368-31G>T)
c.2-31G>T (n.2-31G>T)
n.688-31G>T
n.467-31G>T
 dbSNP gnomAD v4
21g.43066408C=CA2391104203CBSc.317-31G= (n.317-31G=)
n.628-31G=
n.760-31G=
c.368-31G= (n.368-31G=)
c.2-31G= (n.2-31G=)
n.688-31G=
n.467-31G=
21g.43066408C>GCA2654728604CBSc.317-31G>C (n.317-31G>C)
n.628-31G>C
n.760-31G>C
c.368-31G>C (n.368-31G>C)
c.2-31G>C (n.2-31G>C)
n.688-31G>C
n.467-31G>C
 gnomAD v4
21g.43066412dupCA2577615921CBSc.317-31dup (n.317-31dup)
n.628-31dup
n.760-31dup
c.368-31dup (n.368-31dup)
c.2-31dup (n.2-31dup)
n.688-31dup
n.467-31dup
21g.43066412delCA2654728605CBSc.317-31del (n.317-31del)
n.628-31del
n.760-31del
c.368-31del (n.368-31del)
c.2-31del (n.2-31del)
n.688-31del
n.467-31del
 gnomAD v4
21g.43066409C=CA2391104205CBSc.317-32G= (n.317-32G=)
n.628-32G=
n.760-32G=
c.368-32G= (n.368-32G=)
c.2-32G= (n.2-32G=)
n.688-32G=
n.467-32G=
21g.43066409C>GCA2654728606CBSc.317-32G>C (n.317-32G>C)
n.628-32G>C
n.760-32G>C
c.368-32G>C (n.368-32G>C)
c.2-32G>C (n.2-32G>C)
n.688-32G>C
n.467-32G>C
 gnomAD v4
21g.43066409C>TCA321097911CBSc.317-32G>A (n.317-32G>A)
n.628-32G>A
n.760-32G>A
c.368-32G>A (n.368-32G>A)
c.2-32G>A (n.2-32G>A)
n.688-32G>A
n.467-32G>A
 dbSNP gnomAD v4
21g.43066411_43066413delinsCCTCA2391104206CBSc.317-36_317-34delinsAGG (n.317-36_317-34delinsAGG)
n.628-36_628-34delinsAGG
n.760-36_760-34delinsAGG
c.368-36_368-34delinsAGG (n.368-36_368-34delinsAGG)
c.2-36_2-34delinsAGG (n.2-36_2-34delinsAGG)
n.688-36_688-34delinsAGG
n.467-36_467-34delinsAGG
21g.43066412C>TCA2573129966CBSc.317-35G>A (n.317-35G>A)
n.628-35G>A
n.760-35G>A
c.368-35G>A (n.368-35G>A)
c.2-35G>A (n.2-35G>A)
n.688-35G>A
n.467-35G>A
21g.43066412_43066413delCA321097914CBSc.317-36_317-35del (n.317-36_317-35del)
n.628-36_628-35del
n.760-36_760-35del
c.368-36_368-35del (n.368-36_368-35del)
c.2-36_2-35del (n.2-36_2-35del)
n.688-36_688-35del
n.467-36_467-35del
 dbSNP gnomAD v3 gnomAD v4
21g.43066412_43066413delinsCTCA2391104207CBSc.317-36_317-35delinsAG (n.317-36_317-35delinsAG)
n.628-36_628-35delinsAG
n.760-36_760-35delinsAG
c.368-36_368-35delinsAG (n.368-36_368-35delinsAG)
c.2-36_2-35delinsAG (n.2-36_2-35delinsAG)
n.688-36_688-35delinsAG
n.467-36_467-35delinsAG
21g.43066413delCA749580406CBSc.317-36del (n.317-36del)
n.628-36del
n.760-36del
c.368-36del (n.368-36del)
c.2-36del (n.2-36del)
n.688-36del
n.467-36del
 dbSNP gnomAD v4
21g.43066413_43066414delCA410601972CBSc.317-37_317-36del (n.317-37_317-36del)
n.628-37_628-36del
n.760-37_760-36del
c.368-37_368-36del (n.368-37_368-36del)
c.2-37_2-36del (n.2-37_2-36del)
n.688-37_688-36del
n.467-37_467-36del
21g.43066414G>ACA321097918CBSc.317-37C>T (n.317-37C>T)
n.628-37C>T
n.760-37C>T
c.368-37C>T (n.368-37C>T)
c.2-37C>T (n.2-37C>T)
n.688-37C>T
n.467-37C>T
 dbSNP gnomAD v3 gnomAD v4
21g.43066414G=CA2391104208CBSc.317-37C= (n.317-37C=)
n.628-37C=
n.760-37C=
c.368-37C= (n.368-37C=)
c.2-37C= (n.2-37C=)
n.688-37C=
n.467-37C=
21g.43066415A=CA2391104209CBSc.317-38T= (n.317-38T=)
n.628-38T=
n.760-38T=
c.368-38T= (n.368-38T=)
c.2-38T= (n.2-38T=)
n.688-38T=
n.467-38T=
21g.43066415A>CCA1022628660CBSc.317-38T>G (n.317-38T>G)
n.628-38T>G
n.760-38T>G
c.368-38T>G (n.368-38T>G)
c.2-38T>G (n.2-38T>G)
n.688-38T>G
n.467-38T>G
 dbSNP gnomAD v3 gnomAD v4
21g.43066415_43066416delinsACCA2391104210CBSc.317-39_317-38delinsGT (n.317-39_317-38delinsGT)
n.628-39_628-38delinsGT
n.760-39_760-38delinsGT
c.368-39_368-38delinsGT (n.368-39_368-38delinsGT)
c.2-39_2-38delinsGT (n.2-39_2-38delinsGT)
n.688-39_688-38delinsGT
n.467-39_467-38delinsGT
21g.43066416C>TCA2818001122CBSc.317-39G>A (n.317-39G>A)
n.628-39G>A
n.760-39G>A
c.368-39G>A (n.368-39G>A)
c.2-39G>A (n.2-39G>A)
n.688-39G>A
n.467-39G>A
21g.43066417delCA321097926CBSc.317-39del (n.317-39del)
n.628-39del
n.760-39del
c.368-39del (n.368-39del)
c.2-39del (n.2-39del)
n.688-39del
n.467-39del
 dbSNP gnomAD v4
21g.43066416_43066438delinsCCACCCCCCCATTGATTCCTGCTCA2391104211CBSc.317-61_317-39delinsAGCAGGAATCAATGGGGGGGTGG (n.317-61_317-39delinsAGCAGGAATCAATGGGGGGGTGG)
n.628-61_628-39delinsAGCAGGAATCAATGGGGGGGTGG
n.760-61_760-39delinsAGCAGGAATCAATGGGGGGGTGG
c.368-61_368-39delinsAGCAGGAATCAATGGGGGGGTGG (n.368-61_368-39delinsAGCAGGAATCAATGGGGGGGTGG)
c.2-61_2-39delinsAGCAGGAATCAATGGGGGGGTGG (n.2-61_2-39delinsAGCAGGAATCAATGGGGGGGTGG)
n.688-61_688-39delinsAGCAGGAATCAATGGGGGGGTGG
n.467-61_467-39delinsAGCAGGAATCAATGGGGGGGTGG
21g.43066429_43066450delCA749580408CBSc.317-61_317-40del (n.317-61_317-40del)
n.628-61_628-40del
n.760-61_760-40del
c.368-61_368-40del (n.368-61_368-40del)
c.2-61_2-40del (n.2-61_2-40del)
n.688-61_688-40del
n.467-61_467-40del
 dbSNP gnomAD v3 gnomAD v4
21g.43066418A=CA2391104213CBSc.317-41T= (n.317-41T=)
n.628-41T=
n.760-41T=
c.368-41T= (n.368-41T=)
c.2-41T= (n.2-41T=)
n.688-41T=
n.467-41T=
21g.43066418A>CCA321097934CBSc.317-41T>G (n.317-41T>G)
n.628-41T>G
n.760-41T>G
c.368-41T>G (n.368-41T>G)
c.2-41T>G (n.2-41T>G)
n.688-41T>G
n.467-41T>G
 dbSNP gnomAD v3 gnomAD v4
21g.43066418A>TCA2391104214CBSc.317-41T>A (n.317-41T>A)
n.628-41T>A
n.760-41T>A
c.368-41T>A (n.368-41T>A)
c.2-41T>A (n.2-41T>A)
n.688-41T>A
n.467-41T>A
 dbSNP gnomAD v4
21g.43066418_43066419delinsACCA2391104212CBSc.317-42_317-41delinsGT (n.317-42_317-41delinsGT)
n.628-42_628-41delinsGT
n.760-42_760-41delinsGT
c.368-42_368-41delinsGT (n.368-42_368-41delinsGT)
c.2-42_2-41delinsGT (n.2-42_2-41delinsGT)
n.688-42_688-41delinsGT
n.467-42_467-41delinsGT
21g.43066419C=CA2391104215CBSc.317-42G= (n.317-42G=)
n.628-42G=
n.760-42G=
c.368-42G= (n.368-42G=)
c.2-42G= (n.2-42G=)
n.688-42G=
n.467-42G=
21g.43066419C>TCA749580411CBSc.317-42G>A (n.317-42G>A)
n.628-42G>A
n.760-42G>A
c.368-42G>A (n.368-42G>A)
c.2-42G>A (n.2-42G>A)
n.688-42G>A
n.467-42G>A
 dbSNP gnomAD v4
21g.43066425dupCA321097936CBSc.317-42dup (n.317-42dup)
n.628-42dup
n.760-42dup
c.368-42dup (n.368-42dup)
c.2-42dup (n.2-42dup)
n.688-42dup
n.467-42dup
 dbSNP gnomAD v3 gnomAD v4
21g.43066425delCA321097939CBSc.317-42del (n.317-42del)
n.628-42del
n.760-42del
c.368-42del (n.368-42del)
c.2-42del (n.2-42del)
n.688-42del
n.467-42del
 dbSNP gnomAD v3 gnomAD v4
21g.43066420C=CA2391104216CBSc.317-43G= (n.317-43G=)
n.628-43G=
n.760-43G=
c.368-43G= (n.368-43G=)
c.2-43G= (n.2-43G=)
n.688-43G=
n.467-43G=
21g.43066420C>GCA2654728607CBSc.317-43G>C (n.317-43G>C)
n.628-43G>C
n.760-43G>C
c.368-43G>C (n.368-43G>C)
c.2-43G>C (n.2-43G>C)
n.688-43G>C
n.467-43G>C
 gnomAD v4
21g.43066420C>TCA321097956CBSc.317-43G>A (n.317-43G>A)
n.628-43G>A
n.760-43G>A
c.368-43G>A (n.368-43G>A)
c.2-43G>A (n.2-43G>A)
n.688-43G>A
n.467-43G>A
 dbSNP gnomAD v4

Number of alleles fetched