Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261993T>ACA354151777CASRc.958T>A (p.Phe320Ile)
c.475T>A (p.Phe159Ile)
c.370T>A (p.Phe124Ile)
 ClinVar COSMIC
3g.122261993T>CCA354151784CASRc.958T>C (p.Phe320Leu)
c.475T>C (p.Phe159Leu)
c.370T>C (p.Phe124Leu)
3g.122261993T>GCA354151787CASRc.958T>G (p.Phe320Val)
c.475T>G (p.Phe159Val)
c.370T>G (p.Phe124Val)
3g.122261994T>ACA354151796CASRc.959T>A (p.Phe320Tyr)
c.476T>A (p.Phe159Tyr)
c.371T>A (p.Phe124Tyr)
3g.122261994T>CCA354151791CASRc.959T>C (p.Phe320Ser)
c.476T>C (p.Phe159Ser)
c.371T>C (p.Phe124Ser)
3g.122261994T>GCA354151793CASRc.959T>G (p.Phe320Cys)
c.476T>G (p.Phe159Cys)
c.371T>G (p.Phe124Cys)
3g.122261995C>ACA354151799CASRc.960C>A (p.Phe320Leu)
c.477C>A (p.Phe159Leu)
c.372C>A (p.Phe124Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.122261995C=CA1397873262CASRc.960C= (p.Phe320=)
c.477C= (p.Phe159=)
c.372C= (p.Phe124=)
3g.122261995C>GCA354151800CASRc.960C>G (p.Phe320Leu)
c.477C>G (p.Phe159Leu)
c.372C>G (p.Phe124Leu)
 dbSNP
3g.122261995C>TCA2569567CASRc.960C>T (p.Phe320=)
c.477C>T (p.Phe159=)
c.372C>T (p.Phe124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261996_122261997delCA2573136447CASRc.961_962del (p.Ala321SerfsTer?)
c.478_479del (p.Ala160SerfsTer?)
c.373_374del (p.Ala125SerfsTer?)
 ClinVar dbSNP
3g.122261996G>ACA354151806CASRc.961G>A (p.Ala321Thr)
c.478G>A (p.Ala160Thr)
c.373G>A (p.Ala125Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261996G>CCA354151808CASRc.961G>C (p.Ala321Pro)
c.478G>C (p.Ala160Pro)
c.373G>C (p.Ala125Pro)
3g.122261996G=CA1397873264CASRc.961G= (p.Ala321=)
c.478G= (p.Ala160=)
c.373G= (p.Ala125=)
3g.122261996G>TCA354151812CASRc.961G>T (p.Ala321Ser)
c.478G>T (p.Ala160Ser)
c.373G>T (p.Ala125Ser)
 ClinVar dbSNP
3g.122261997C>ACA354151816CASRc.962C>A (p.Ala321Asp)
c.479C>A (p.Ala160Asp)
c.374C>A (p.Ala125Asp)
3g.122261997C>GCA354151817CASRc.962C>G (p.Ala321Gly)
c.479C>G (p.Ala160Gly)
c.374C>G (p.Ala125Gly)
3g.122261997C>TCA354151820CASRc.962C>T (p.Ala321Val)
c.479C>T (p.Ala160Val)
c.374C>T (p.Ala125Val)
 gnomAD v4
3g.122261998T>ACA435424679CASRc.963T>A (p.Ala321=)
c.480T>A (p.Ala160=)
c.375T>A (p.Ala125=)
3g.122261998T>CCA435424680CASRc.963T>C (p.Ala321=)
c.480T>C (p.Ala160=)
c.375T>C (p.Ala125=)
3g.122261998T>GCA435424681CASRc.963T>G (p.Ala321=)
c.480T>G (p.Ala160=)
c.375T>G (p.Ala125=)
3g.122261999C>ACA354151823CASRc.964C>A (p.Leu322Met)
c.481C>A (p.Leu161Met)
c.376C>A (p.Leu126Met)
3g.122261999C>GCA354151825CASRc.964C>G (p.Leu322Val)
c.481C>G (p.Leu161Val)
c.376C>G (p.Leu126Val)
3g.122261999C>TCA435424682CASRc.964C>T (p.Leu322=)
c.481C>T (p.Leu161=)
c.376C>T (p.Leu126=)
 ClinVar dbSNP
3g.122262000T>ACA354151828CASRc.965T>A (p.Leu322Gln)
c.482T>A (p.Leu161Gln)
c.377T>A (p.Leu126Gln)
3g.122262000T>CCA354151834CASRc.965T>C (p.Leu322Pro)
c.482T>C (p.Leu161Pro)
c.377T>C (p.Leu126Pro)
3g.122262000T>GCA354151831CASRc.965T>G (p.Leu322Arg)
c.482T>G (p.Leu161Arg)
c.377T>G (p.Leu126Arg)
 gnomAD v4
3g.122262001G>ACA435424684CASRc.966G>A (p.Leu322=)
c.483G>A (p.Leu161=)
c.378G>A (p.Leu126=)
3g.122262001G>CCA435424685CASRc.966G>C (p.Leu322=)
c.483G>C (p.Leu161=)
c.378G>C (p.Leu126=)
3g.122262001G>TCA435424686CASRc.966G>T (p.Leu322=)
c.483G>T (p.Leu161=)
c.378G>T (p.Leu126=)
3g.122262002A>CCA354151838CASRc.967A>C (p.Lys323Gln)
c.484A>C (p.Lys162Gln)
c.379A>C (p.Lys127Gln)
3g.122262002A>GCA354151842CASRc.967A>G (p.Lys323Glu)
c.484A>G (p.Lys162Glu)
c.379A>G (p.Lys127Glu)
3g.122262002A>TCA354151840CASRc.967A>T (p.Lys323Ter)
c.484A>T (p.Lys162Ter)
c.379A>T (p.Lys127Ter)
 gnomAD v4
3g.122262003A=CA1397873266CASRc.968A= (p.Lys323=)
c.485A= (p.Lys162=)
c.380A= (p.Lys127=)
3g.122262003A>CCA354151845CASRc.968A>C (p.Lys323Thr)
c.485A>C (p.Lys162Thr)
c.380A>C (p.Lys127Thr)
 ClinVar dbSNP
3g.122262003A>GCA354151851CASRc.968A>G (p.Lys323Arg)
c.485A>G (p.Lys162Arg)
c.380A>G (p.Lys127Arg)
3g.122262003A>TCA354151848CASRc.968A>T (p.Lys323Met)
c.485A>T (p.Lys162Met)
c.380A>T (p.Lys127Met)
3g.122262004G>ACA435424689CASRc.969G>A (p.Lys323=)
c.486G>A (p.Lys162=)
c.381G>A (p.Lys127=)
 ClinVar dbSNP
3g.122262004G>CCA354151853CASRc.969G>C (p.Lys323Asn)
c.486G>C (p.Lys162Asn)
c.381G>C (p.Lys127Asn)
3g.122262004G=CA1397873268CASRc.969G= (p.Lys323=)
c.486G= (p.Lys162=)
c.381G= (p.Lys127=)
3g.122262004G>TCA354151856CASRc.969G>T (p.Lys323Asn)
c.486G>T (p.Lys162Asn)
c.381G>T (p.Lys127Asn)
3g.122262005G>ACA354151859CASRc.970G>A (p.Ala324Thr)
c.487G>A (p.Ala163Thr)
c.382G>A (p.Ala128Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122262005G>CCA2569568CASRc.970G>C (p.Ala324Pro)
c.487G>C (p.Ala163Pro)
c.382G>C (p.Ala128Pro)
 ClinVar dbSNP ExAC gnomAD v2
3g.122262005G=CA1397873270CASRc.970G= (p.Ala324=)
c.487G= (p.Ala163=)
c.382G= (p.Ala128=)
3g.122262005G>TCA354151863CASRc.970G>T (p.Ala324Ser)
c.487G>T (p.Ala163Ser)
c.382G>T (p.Ala128Ser)
3g.122262006C>ACA354151871CASRc.971C>A (p.Ala324Asp)
c.488C>A (p.Ala163Asp)
c.383C>A (p.Ala128Asp)
 ClinVar
3g.122262006C>GCA354151869CASRc.971C>G (p.Ala324Gly)
c.488C>G (p.Ala163Gly)
c.383C>G (p.Ala128Gly)
 ClinVar
3g.122262006C>TCA354151867CASRc.971C>T (p.Ala324Val)
c.488C>T (p.Ala163Val)
c.383C>T (p.Ala128Val)
3g.122262007T>ACA435424692CASRc.972T>A (p.Ala324=)
c.489T>A (p.Ala163=)
c.384T>A (p.Ala128=)
3g.122262007T>CCA435424693CASRc.972T>C (p.Ala324=)
c.489T>C (p.Ala163=)
c.384T>C (p.Ala128=)
3g.122262007T>GCA435424694CASRc.972T>G (p.Ala324=)
c.489T>G (p.Ala163=)
c.384T>G (p.Ala128=)
3g.122262008G>ACA354151874CASRc.973G>A (p.Gly325Arg)
c.490G>A (p.Gly164Arg)
c.385G>A (p.Gly129Arg)
 ClinVar COSMIC
3g.122262008G>CCA2569569CASRc.973G>C (p.Gly325Arg)
c.490G>C (p.Gly164Arg)
c.385G>C (p.Gly129Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262008G=CA1397873271CASRc.973G= (p.Gly325=)
c.490G= (p.Gly164=)
c.385G= (p.Gly129=)
3g.122262008G>TCA354151877CASRc.973G>T (p.Gly325Trp)
c.490G>T (p.Gly164Trp)
c.385G>T (p.Gly129Trp)
3g.122262009G>ACA213606CASRc.974G>A (p.Gly325Glu)
c.491G>A (p.Gly164Glu)
c.386G>A (p.Gly129Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262009G>CCA82738718CASRc.974G>C (p.Gly325Ala)
c.491G>C (p.Gly164Ala)
c.386G>C (p.Gly129Ala)
 dbSNP
3g.122262009G=CA1397873273CASRc.974G= (p.Gly325=)
c.491G= (p.Gly164=)
c.386G= (p.Gly129=)
3g.122262009G>TCA354151882CASRc.974G>T (p.Gly325Val)
c.491G>T (p.Gly164Val)
c.386G>T (p.Gly129Val)
3g.122262010G>ACA435424699CASRc.975G>A (p.Gly325=)
c.492G>A (p.Gly164=)
c.387G>A (p.Gly129=)
 ClinVar
3g.122262010G>CCA435424700CASRc.975G>C (p.Gly325=)
c.492G>C (p.Gly164=)
c.387G>C (p.Gly129=)
3g.122262010G>TCA435424702CASRc.975G>T (p.Gly325=)
c.492G>T (p.Gly164=)
c.387G>T (p.Gly129=)
 gnomAD v4
3g.122262011C>ACA354151889CASRc.976C>A (p.Gln326Lys)
c.493C>A (p.Gln165Lys)
c.388C>A (p.Gln130Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.122262011C=CA1397873276CASRc.976C= (p.Gln326=)
c.493C= (p.Gln165=)
c.388C= (p.Gln130=)
3g.122262011C>GCA354151884CASRc.976C>G (p.Gln326Glu)
c.493C>G (p.Gln165Glu)
c.388C>G (p.Gln130Glu)
3g.122262011C>TCA354151887CASRc.976C>T (p.Gln326Ter)
c.493C>T (p.Gln165Ter)
c.388C>T (p.Gln130Ter)
3g.122262012A>CCA354151893CASRc.977A>C (p.Gln326Pro)
c.494A>C (p.Gln165Pro)
c.389A>C (p.Gln130Pro)
3g.122262012A>GCA354151895CASRc.977A>G (p.Gln326Arg)
c.494A>G (p.Gln165Arg)
c.389A>G (p.Gln130Arg)
3g.122262012A>TCA354151898CASRc.977A>T (p.Gln326Leu)
c.494A>T (p.Gln165Leu)
c.389A>T (p.Gln130Leu)
 ClinVar
3g.122262013G>ACA82738724CASRc.978G>A (p.Gln326=)
c.495G>A (p.Gln165=)
c.390G>A (p.Gln130=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262013G>CCA354151901CASRc.978G>C (p.Gln326His)
c.495G>C (p.Gln165His)
c.390G>C (p.Gln130His)
3g.122262013G=CA1397873277CASRc.978G= (p.Gln326=)
c.495G= (p.Gln165=)
c.390G= (p.Gln130=)
3g.122262013G>TCA354151904CASRc.978G>T (p.Gln326His)
c.495G>T (p.Gln165His)
c.390G>T (p.Gln130His)
3g.122262014A>CCA354151908CASRc.979A>C (p.Ile327Leu)
c.496A>C (p.Ile166Leu)
c.391A>C (p.Ile131Leu)
3g.122262014A>GCA354151910CASRc.979A>G (p.Ile327Val)
c.496A>G (p.Ile166Val)
c.391A>G (p.Ile131Val)
3g.122262014A>TCA354151913CASRc.979A>T (p.Ile327Phe)
c.496A>T (p.Ile166Phe)
c.391A>T (p.Ile131Phe)
3g.122262015T>ACA354151916CASRc.980T>A (p.Ile327Asn)
c.497T>A (p.Ile166Asn)
c.392T>A (p.Ile131Asn)
3g.122262015T>CCA354151918CASRc.980T>C (p.Ile327Thr)
c.497T>C (p.Ile166Thr)
c.392T>C (p.Ile131Thr)
3g.122262015T>GCA354151921CASRc.980T>G (p.Ile327Ser)
c.497T>G (p.Ile166Ser)
c.392T>G (p.Ile131Ser)
3g.122262016C>ACA435424717CASRc.981C>A (p.Ile327=)
c.498C>A (p.Ile166=)
c.393C>A (p.Ile131=)
3g.122262016C=CA1397873280CASRc.981C= (p.Ile327=)
c.498C= (p.Ile166=)
c.393C= (p.Ile131=)
3g.122262016C>GCA354151923CASRc.981C>G (p.Ile327Met)
c.498C>G (p.Ile166Met)
c.393C>G (p.Ile131Met)
 ClinVar dbSNP
3g.122262016C>TCA435424713CASRc.981C>T (p.Ile327=)
c.498C>T (p.Ile166=)
c.393C>T (p.Ile131=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262017C>ACA354151925CASRc.982C>A (p.Pro328Thr)
c.499C>A (p.Pro167Thr)
c.394C>A (p.Pro132Thr)
3g.122262017C>GCA354151931CASRc.982C>G (p.Pro328Ala)
c.499C>G (p.Pro167Ala)
c.394C>G (p.Pro132Ala)
3g.122262017C>TCA354151928CASRc.982C>T (p.Pro328Ser)
c.499C>T (p.Pro167Ser)
c.394C>T (p.Pro132Ser)
3g.122262018C>ACA354151935CASRc.983C>A (p.Pro328Gln)
c.500C>A (p.Pro167Gln)
c.395C>A (p.Pro132Gln)
3g.122262018C>GCA354151938CASRc.983C>G (p.Pro328Arg)
c.500C>G (p.Pro167Arg)
c.395C>G (p.Pro132Arg)
3g.122262018C>TCA354151941CASRc.983C>T (p.Pro328Leu)
c.500C>T (p.Pro167Leu)
c.395C>T (p.Pro132Leu)
3g.122262019A>CCA435424721CASRc.984A>C (p.Pro328=)
c.501A>C (p.Pro167=)
c.396A>C (p.Pro132=)
3g.122262019A>GCA435424723CASRc.984A>G (p.Pro328=)
c.501A>G (p.Pro167=)
c.396A>G (p.Pro132=)
3g.122262019A>TCA435424722CASRc.984A>T (p.Pro328=)
c.501A>T (p.Pro167=)
c.396A>T (p.Pro132=)
3g.122262020G>ACA354151945CASRc.985G>A (p.Gly329Ser)
c.502G>A (p.Gly168Ser)
c.397G>A (p.Gly133Ser)
 COSMIC
3g.122262020G>CCA354151947CASRc.985G>C (p.Gly329Arg)
c.502G>C (p.Gly168Arg)
c.397G>C (p.Gly133Arg)
3g.122262020G>TCA354151952CASRc.985G>T (p.Gly329Cys)
c.502G>T (p.Gly168Cys)
c.397G>T (p.Gly133Cys)
3g.122262021_122262029delCA2573136449CASRc.986_994del (p.Gly329_Arg331del)
c.503_511del (p.Gly168_Arg170del)
c.398_406del (p.Gly133_Arg135del)
 ClinVar dbSNP
3g.122262021G>ACA354151956CASRc.986G>A (p.Gly329Asp)
c.503G>A (p.Gly168Asp)
c.398G>A (p.Gly133Asp)
3g.122262021G>CCA354151961CASRc.986G>C (p.Gly329Ala)
c.503G>C (p.Gly168Ala)
c.398G>C (p.Gly133Ala)
3g.122262021G>TCA354151963CASRc.986G>T (p.Gly329Val)
c.503G>T (p.Gly168Val)
c.398G>T (p.Gly133Val)
3g.122262022C>ACA435424927CASRc.987C>A (p.Gly329=)
c.504C>A (p.Gly168=)
c.399C>A (p.Gly133=)
 gnomAD v4
3g.122262022C=CA1397873282CASRc.987C= (p.Gly329=)
c.504C= (p.Gly168=)
c.399C= (p.Gly133=)
3g.122262022C>GCA435424928CASRc.987C>G (p.Gly329=)
c.504C>G (p.Gly168=)
c.399C>G (p.Gly133=)
3g.122262022C>TCA435424929CASRc.987C>T (p.Gly329=)
c.504C>T (p.Gly168=)
c.399C>T (p.Gly133=)
 ClinVar dbSNP gnomAD v4
3g.122262023T>ACA354151965CASRc.988T>A (p.Phe330Ile)
c.505T>A (p.Phe169Ile)
c.400T>A (p.Phe134Ile)
3g.122262023T>CCA354151968CASRc.988T>C (p.Phe330Leu)
c.505T>C (p.Phe169Leu)
c.400T>C (p.Phe134Leu)
 gnomAD v4
3g.122262023T>GCA354151970CASRc.988T>G (p.Phe330Val)
c.505T>G (p.Phe169Val)
c.400T>G (p.Phe134Val)
3g.122262024T>ACA354151975CASRc.989T>A (p.Phe330Tyr)
c.506T>A (p.Phe169Tyr)
c.401T>A (p.Phe134Tyr)
3g.122262024T>CCA354151973CASRc.989T>C (p.Phe330Ser)
c.506T>C (p.Phe169Ser)
c.401T>C (p.Phe134Ser)
3g.122262024T>GCA354151974CASRc.989T>G (p.Phe330Cys)
c.506T>G (p.Phe169Cys)
c.401T>G (p.Phe134Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262024T=CA1397873284CASRc.989T= (p.Phe330=)
c.506T= (p.Phe169=)
c.401T= (p.Phe134=)
3g.122262025C>ACA354151977CASRc.990C>A (p.Phe330Leu)
c.507C>A (p.Phe169Leu)
c.402C>A (p.Phe134Leu)
3g.122262025C>GCA354151980CASRc.990C>G (p.Phe330Leu)
c.507C>G (p.Phe169Leu)
c.402C>G (p.Phe134Leu)
3g.122262025C>TCA435424938CASRc.990C>T (p.Phe330=)
c.507C>T (p.Phe169=)
c.402C>T (p.Phe134=)
3g.122262026C>ACA435424939CASRc.991C>A (p.Arg331=)
c.508C>A (p.Arg170=)
c.403C>A (p.Arg135=)
3g.122262026C=CA1397873287CASRc.991C= (p.Arg331=)
c.508C= (p.Arg170=)
c.403C= (p.Arg135=)
3g.122262026C>GCA354151982CASRc.991C>G (p.Arg331Gly)
c.508C>G (p.Arg170Gly)
c.403C>G (p.Arg135Gly)
3g.122262026C>TCA354151985CASRc.991C>T (p.Arg331Trp)
c.508C>T (p.Arg170Trp)
c.403C>T (p.Arg135Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262027G>ACA2569570CASRc.992G>A (p.Arg331Gln)
c.509G>A (p.Arg170Gln)
c.404G>A (p.Arg135Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262027G>CCA354151990CASRc.992G>C (p.Arg331Pro)
c.509G>C (p.Arg170Pro)
c.404G>C (p.Arg135Pro)
 ClinVar dbSNP
3g.122262027G=CA1397873290CASRc.992G= (p.Arg331=)
c.509G= (p.Arg170=)
c.404G= (p.Arg135=)
3g.122262027G>TCA354151992CASRc.992G>T (p.Arg331Leu)
c.509G>T (p.Arg170Leu)
c.404G>T (p.Arg135Leu)
 ClinVar dbSNP
3g.122262029delCA2740094564CASRc.994del (p.Glu332AsnfsTer3)
c.511del (p.Glu171AsnfsTer3)
c.406del (p.Glu136AsnfsTer3)
 ClinVar
3g.122262028G>ACA435424943CASRc.993G>A (p.Arg331=)
c.510G>A (p.Arg170=)
c.405G>A (p.Arg135=)
 gnomAD v4 COSMIC
3g.122262028G>CCA435424944CASRc.993G>C (p.Arg331=)
c.510G>C (p.Arg170=)
c.405G>C (p.Arg135=)
3g.122262028G>TCA435424945CASRc.993G>T (p.Arg331=)
c.510G>T (p.Arg170=)
c.405G>T (p.Arg135=)
3g.122262029G>ACA354151996CASRc.994G>A (p.Glu332Lys)
c.511G>A (p.Glu171Lys)
c.406G>A (p.Glu136Lys)
 ClinVar COSMIC
3g.122262029G>CCA354151998CASRc.994G>C (p.Glu332Gln)
c.511G>C (p.Glu171Gln)
c.406G>C (p.Glu136Gln)
3g.122262029G>TCA354152001CASRc.994G>T (p.Glu332Ter)
c.511G>T (p.Glu171Ter)
c.406G>T (p.Glu136Ter)
3g.122262030A>CCA354152008CASRc.995A>C (p.Glu332Ala)
c.512A>C (p.Glu171Ala)
c.407A>C (p.Glu136Ala)
3g.122262030A>GCA354152006CASRc.995A>G (p.Glu332Gly)
c.512A>G (p.Glu171Gly)
c.407A>G (p.Glu136Gly)
 ClinVar
3g.122262030A>TCA354152004CASRc.995A>T (p.Glu332Val)
c.512A>T (p.Glu171Val)
c.407A>T (p.Glu136Val)
3g.122262031A>CCA354152012CASRc.996A>C (p.Glu332Asp)
c.513A>C (p.Glu171Asp)
c.408A>C (p.Glu136Asp)
3g.122262031A>GCA435424952CASRc.996A>G (p.Glu332=)
c.513A>G (p.Glu171=)
c.408A>G (p.Glu136=)
 gnomAD v4
3g.122262031A>TCA354152014CASRc.996A>T (p.Glu332Asp)
c.513A>T (p.Glu171Asp)
c.408A>T (p.Glu136Asp)
3g.122262032T>ACA354152016CASRc.997T>A (p.Phe333Ile)
c.514T>A (p.Phe172Ile)
c.409T>A (p.Phe137Ile)
3g.122262032T>CCA354152019CASRc.997T>C (p.Phe333Leu)
c.514T>C (p.Phe172Leu)
c.409T>C (p.Phe137Leu)
3g.122262032T>GCA354152021CASRc.997T>G (p.Phe333Val)
c.514T>G (p.Phe172Val)
c.409T>G (p.Phe137Val)
3g.122262033T>ACA354152025CASRc.998T>A (p.Phe333Tyr)
c.515T>A (p.Phe172Tyr)
c.410T>A (p.Phe137Tyr)
3g.122262033T>CCA354152027CASRc.998T>C (p.Phe333Ser)
c.515T>C (p.Phe172Ser)
c.410T>C (p.Phe137Ser)
3g.122262033T>GCA354152030CASRc.998T>G (p.Phe333Cys)
c.515T>G (p.Phe172Cys)
c.410T>G (p.Phe137Cys)
3g.122262034C>ACA354152032CASRc.999C>A (p.Phe333Leu)
c.516C>A (p.Phe172Leu)
c.411C>A (p.Phe137Leu)
3g.122262034C=CA1397873292CASRc.999C= (p.Phe333=)
c.516C= (p.Phe172=)
c.411C= (p.Phe137=)
3g.122262034C>GCA354152035CASRc.999C>G (p.Phe333Leu)
c.516C>G (p.Phe172Leu)
c.411C>G (p.Phe137Leu)
3g.122262034C>TCA2569571CASRc.999C>T (p.Phe333=)
c.516C>T (p.Phe172=)
c.411C>T (p.Phe137=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262035C>ACA354152040CASRc.1000C>A (p.Leu334Met)
c.517C>A (p.Leu173Met)
c.412C>A (p.Leu138Met)
3g.122262035C>GCA354152042CASRc.1000C>G (p.Leu334Val)
c.517C>G (p.Leu173Val)
c.412C>G (p.Leu138Val)
3g.122262035C>TCA435424965CASRc.1000C>T (p.Leu334=)
c.517C>T (p.Leu173=)
c.412C>T (p.Leu138=)
 gnomAD v4
3g.122262036T>ACA354152049CASRc.1001T>A (p.Leu334Gln)
c.518T>A (p.Leu173Gln)
c.413T>A (p.Leu138Gln)
3g.122262036T>CCA354152045CASRc.1001T>C (p.Leu334Pro)
c.518T>C (p.Leu173Pro)
c.413T>C (p.Leu138Pro)
 COSMIC
3g.122262036T>GCA354152047CASRc.1001T>G (p.Leu334Arg)
c.518T>G (p.Leu173Arg)
c.413T>G (p.Leu138Arg)
3g.122262037G>ACA435424970CASRc.1002G>A (p.Leu334=)
c.519G>A (p.Leu173=)
c.414G>A (p.Leu138=)
 ClinVar dbSNP
3g.122262037G>CCA435424971CASRc.1002G>C (p.Leu334=)
c.519G>C (p.Leu173=)
c.414G>C (p.Leu138=)
3g.122262037G>TCA435424972CASRc.1002G>T (p.Leu334=)
c.519G>T (p.Leu173=)
c.414G>T (p.Leu138=)
3g.122262041_122262043delCA2586972806CASRc.1006_1008del (p.Lys336del)
c.523_525del (p.Lys175del)
c.418_420del (p.Lys140del)
3g.122262038A>CCA354152053CASRc.1003A>C (p.Lys335Gln)
c.520A>C (p.Lys174Gln)
c.415A>C (p.Lys139Gln)
3g.122262038A>GCA354152055CASRc.1003A>G (p.Lys335Glu)
c.520A>G (p.Lys174Glu)
c.415A>G (p.Lys139Glu)
3g.122262038A>TCA354152058CASRc.1003A>T (p.Lys335Ter)
c.520A>T (p.Lys174Ter)
c.415A>T (p.Lys139Ter)
3g.122262039A>CCA354152062CASRc.1004A>C (p.Lys335Thr)
c.521A>C (p.Lys174Thr)
c.416A>C (p.Lys139Thr)
3g.122262039A>GCA354152065CASRc.1004A>G (p.Lys335Arg)
c.521A>G (p.Lys174Arg)
c.416A>G (p.Lys139Arg)
3g.122262039A>TCA354152068CASRc.1004A>T (p.Lys335Met)
c.521A>T (p.Lys174Met)
c.416A>T (p.Lys139Met)
3g.122262040G>ACA435424979CASRc.1005G>A (p.Lys335=)
c.522G>A (p.Lys174=)
c.417G>A (p.Lys139=)
3g.122262040G>CCA354152071CASRc.1005G>C (p.Lys335Asn)
c.522G>C (p.Lys174Asn)
c.417G>C (p.Lys139Asn)
3g.122262040G>TCA354152073CASRc.1005G>T (p.Lys335Asn)
c.522G>T (p.Lys174Asn)
c.417G>T (p.Lys139Asn)
3g.122262041A=CA1397873293CASRc.1006A= (p.Lys336=)
c.523A= (p.Lys175=)
c.418A= (p.Lys140=)
3g.122262041A>CCA354152075CASRc.1006A>C (p.Lys336Gln)
c.523A>C (p.Lys175Gln)
c.418A>C (p.Lys140Gln)
3g.122262041A>GCA354152078CASRc.1006A>G (p.Lys336Glu)
c.523A>G (p.Lys175Glu)
c.418A>G (p.Lys140Glu)
 dbSNP
3g.122262041A>TCA354152081CASRc.1006A>T (p.Lys336Ter)
c.523A>T (p.Lys175Ter)
c.418A>T (p.Lys140Ter)
3g.122262042A>CCA354152086CASRc.1007A>C (p.Lys336Thr)
c.524A>C (p.Lys175Thr)
c.419A>C (p.Lys140Thr)
3g.122262042A>GCA354152089CASRc.1007A>G (p.Lys336Arg)
c.524A>G (p.Lys175Arg)
c.419A>G (p.Lys140Arg)
3g.122262042A>TCA354152083CASRc.1007A>T (p.Lys336Met)
c.524A>T (p.Lys175Met)
c.419A>T (p.Lys140Met)
3g.122262043G>ACA435424990CASRc.1008G>A (p.Lys336=)
c.525G>A (p.Lys175=)
c.420G>A (p.Lys140=)
3g.122262043G>CCA2569573CASRc.1008G>C (p.Lys336Asn)
c.525G>C (p.Lys175Asn)
c.420G>C (p.Lys140Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262043G=CA1397873295CASRc.1008G= (p.Lys336=)
c.525G= (p.Lys175=)
c.420G= (p.Lys140=)
3g.122262043G>TCA2569572CASRc.1008G>T (p.Lys336Asn)
c.525G>T (p.Lys175Asn)
c.420G>T (p.Lys140Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262044G>ACA354152099CASRc.1009G>A (p.Val337Ile)
c.526G>A (p.Val176Ile)
c.421G>A (p.Val141Ile)
 dbSNP
3g.122262044G>CCA354152100CASRc.1009G>C (p.Val337Leu)
c.526G>C (p.Val176Leu)
c.421G>C (p.Val141Leu)
3g.122262044G=CA1397873299CASRc.1009G= (p.Val337=)
c.526G= (p.Val176=)
c.421G= (p.Val141=)
3g.122262044G>TCA2569574CASRc.1009G>T (p.Val337Phe)
c.526G>T (p.Val176Phe)
c.421G>T (p.Val141Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262045T>ACA354152101CASRc.1010T>A (p.Val337Asp)
c.527T>A (p.Val176Asp)
c.422T>A (p.Val141Asp)
3g.122262045T>CCA354152102CASRc.1010T>C (p.Val337Ala)
c.527T>C (p.Val176Ala)
c.422T>C (p.Val141Ala)
 ClinVar dbSNP
3g.122262045T>GCA354152104CASRc.1010T>G (p.Val337Gly)
c.527T>G (p.Val176Gly)
c.422T>G (p.Val141Gly)
3g.122262046C>ACA435424999CASRc.1011C>A (p.Val337=)
c.528C>A (p.Val176=)
c.423C>A (p.Val141=)
3g.122262046C=CA1397873302CASRc.1011C= (p.Val337=)
c.528C= (p.Val176=)
c.423C= (p.Val141=)
3g.122262046C>GCA2569575CASRc.1011C>G (p.Val337=)
c.528C>G (p.Val176=)
c.423C>G (p.Val141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262046C>TCA435425000CASRc.1011C>T (p.Val337=)
c.528C>T (p.Val176=)
c.423C>T (p.Val141=)
3g.122262047C>ACA354152107CASRc.1012C>A (p.His338Asn)
c.529C>A (p.His177Asn)
c.424C>A (p.His142Asn)
3g.122262047C=CA1397873304CASRc.1012C= (p.His338=)
c.529C= (p.His177=)
c.424C= (p.His142=)
3g.122262047C>GCA354152108CASRc.1012C>G (p.His338Asp)
c.529C>G (p.His177Asp)
c.424C>G (p.His142Asp)
3g.122262047C>TCA354152111CASRc.1012C>T (p.His338Tyr)
c.529C>T (p.His177Tyr)
c.424C>T (p.His142Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262048A=CA1397873305CASRc.1013A= (p.His338=)
c.530A= (p.His177=)
c.425A= (p.His142=)
3g.122262048A>CCA354152118CASRc.1013A>C (p.His338Pro)
c.530A>C (p.His177Pro)
c.425A>C (p.His142Pro)
 gnomAD v4
3g.122262048A>GCA2569576CASRc.1013A>G (p.His338Arg)
c.530A>G (p.His177Arg)
c.425A>G (p.His142Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262048A>TCA354152114CASRc.1013A>T (p.His338Leu)
c.530A>T (p.His177Leu)
c.425A>T (p.His142Leu)
3g.122262049T>ACA354152123CASRc.1014T>A (p.His338Gln)
c.531T>A (p.His177Gln)
c.426T>A (p.His142Gln)
3g.122262049T>CCA435425009CASRc.1014T>C (p.His338=)
c.531T>C (p.His177=)
c.426T>C (p.His142=)
 ClinVar dbSNP
3g.122262049T>GCA354152126CASRc.1014T>G (p.His338Gln)
c.531T>G (p.His177Gln)
c.426T>G (p.His142Gln)
3g.122262049T=CA1397873307CASRc.1014T= (p.His338=)
c.531T= (p.His177=)
c.426T= (p.His142=)
3g.122262050C>ACA354152129CASRc.1015C>A (p.Pro339Thr)
c.532C>A (p.Pro178Thr)
c.427C>A (p.Pro143Thr)
 gnomAD v4
3g.122262050C>GCA354152132CASRc.1015C>G (p.Pro339Ala)
c.532C>G (p.Pro178Ala)
c.427C>G (p.Pro143Ala)
3g.122262050C>TCA354152135CASRc.1015C>T (p.Pro339Ser)
c.532C>T (p.Pro178Ser)
c.427C>T (p.Pro143Ser)
3g.122262051C>ACA354152141CASRc.1016C>A (p.Pro339His)
c.533C>A (p.Pro178His)
c.428C>A (p.Pro143His)
3g.122262051C=CA1397873309CASRc.1016C= (p.Pro339=)
c.533C= (p.Pro178=)
c.428C= (p.Pro143=)
3g.122262051C>GCA354152136CASRc.1016C>G (p.Pro339Arg)
c.533C>G (p.Pro178Arg)
c.428C>G (p.Pro143Arg)
 ClinVar
3g.122262051C>TCA354152138CASRc.1016C>T (p.Pro339Leu)
c.533C>T (p.Pro178Leu)
c.428C>T (p.Pro143Leu)
 ClinVar dbSNP
3g.122262052C>ACA435425017CASRc.1017C>A (p.Pro339=)
c.534C>A (p.Pro178=)
c.429C>A (p.Pro143=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262052C=CA1397873311CASRc.1017C= (p.Pro339=)
c.534C= (p.Pro178=)
c.429C= (p.Pro143=)
3g.122262052C>GCA435425018CASRc.1017C>G (p.Pro339=)
c.534C>G (p.Pro178=)
c.429C>G (p.Pro143=)
3g.122262052C>TCA435425019CASRc.1017C>T (p.Pro339=)
c.534C>T (p.Pro178=)
c.429C>T (p.Pro143=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262053A=CA1397873313CASRc.1018A= (p.Arg340=)
c.535A= (p.Arg179=)
c.430A= (p.Arg144=)
3g.122262053A>CCA435425022CASRc.1018A>C (p.Arg340=)
c.535A>C (p.Arg179=)
c.430A>C (p.Arg144=)
3g.122262053A>GCA16611089CASRc.1018A>G (p.Arg340Gly)
c.535A>G (p.Arg179Gly)
c.430A>G (p.Arg144Gly)
 ClinVar dbSNP gnomAD v4
3g.122262053A>TCA354152145CASRc.1018A>T (p.Arg340Trp)
c.535A>T (p.Arg179Trp)
c.430A>T (p.Arg144Trp)
3g.122262054G>ACA2569577CASRc.1019G>A (p.Arg340Lys)
c.536G>A (p.Arg179Lys)
c.431G>A (p.Arg144Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262054G>CCA354152149CASRc.1019G>C (p.Arg340Thr)
c.536G>C (p.Arg179Thr)
c.431G>C (p.Arg144Thr)
3g.122262054G=CA1397873315CASRc.1019G= (p.Arg340=)
c.536G= (p.Arg179=)
c.431G= (p.Arg144=)
3g.122262054G>TCA82738770CASRc.1019G>T (p.Arg340Met)
c.536G>T (p.Arg179Met)
c.431G>T (p.Arg144Met)
 dbSNP
3g.122262055G>ACA2569578CASRc.1020G>A (p.Arg340=)
c.537G>A (p.Arg179=)
c.432G>A (p.Arg144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122262055G>CCA354152158CASRc.1020G>C (p.Arg340Ser)
c.537G>C (p.Arg179Ser)
c.432G>C (p.Arg144Ser)
3g.122262055G=CA1397873317CASRc.1020G= (p.Arg340=)
c.537G= (p.Arg179=)
c.432G= (p.Arg144=)
3g.122262055G>TCA354152155CASRc.1020G>T (p.Arg340Ser)
c.537G>T (p.Arg179Ser)
c.432G>T (p.Arg144Ser)
 COSMIC
3g.122262056A>CCA354152169CASRc.1021A>C (p.Lys341Gln)
c.538A>C (p.Lys180Gln)
c.433A>C (p.Lys145Gln)
3g.122262056A>GCA354152174CASRc.1021A>G (p.Lys341Glu)
c.538A>G (p.Lys180Glu)
c.433A>G (p.Lys145Glu)
3g.122262056A>TCA354152171CASRc.1021A>T (p.Lys341Ter)
c.538A>T (p.Lys180Ter)
c.433A>T (p.Lys145Ter)
3g.122262057A=CA1397873319CASRc.1022A= (p.Lys341=)
c.539A= (p.Lys180=)
c.434A= (p.Lys145=)
3g.122262057A>CCA354152178CASRc.1022A>C (p.Lys341Thr)
c.539A>C (p.Lys180Thr)
c.434A>C (p.Lys145Thr)
3g.122262057A>GCA354152181CASRc.1022A>G (p.Lys341Arg)
c.539A>G (p.Lys180Arg)
c.434A>G (p.Lys145Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262057A>TCA354152184CASRc.1022A>T (p.Lys341Met)
c.539A>T (p.Lys180Met)
c.434A>T (p.Lys145Met)
 gnomAD v4
3g.122262058G>ACA435425028CASRc.1023G>A (p.Lys341=)
c.540G>A (p.Lys180=)
c.435G>A (p.Lys145=)
3g.122262058G>CCA354152187CASRc.1023G>C (p.Lys341Asn)
c.540G>C (p.Lys180Asn)
c.435G>C (p.Lys145Asn)
3g.122262058G=CA1397873321CASRc.1023G= (p.Lys341=)
c.540G= (p.Lys180=)
c.435G= (p.Lys145=)
3g.122262058G>TCA82738777CASRc.1023G>T (p.Lys341Asn)
c.540G>T (p.Lys180Asn)
c.435G>T (p.Lys145Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262059T>ACA354152193CASRc.1024T>A (p.Ser342Thr)
c.541T>A (p.Ser181Thr)
c.436T>A (p.Ser146Thr)
3g.122262059T>CCA354152195CASRc.1024T>C (p.Ser342Pro)
c.541T>C (p.Ser181Pro)
c.436T>C (p.Ser146Pro)
 ClinVar dbSNP
3g.122262059T>GCA354152197CASRc.1024T>G (p.Ser342Ala)
c.541T>G (p.Ser181Ala)
c.436T>G (p.Ser146Ala)
3g.122262059T=CA1397873323CASRc.1024T= (p.Ser342=)
c.541T= (p.Ser181=)
c.436T= (p.Ser146=)
3g.122262060C>ACA354152200CASRc.1025C>A (p.Ser342Tyr)
c.542C>A (p.Ser181Tyr)
c.437C>A (p.Ser146Tyr)
3g.122262060C>GCA354152203CASRc.1025C>G (p.Ser342Cys)
c.542C>G (p.Ser181Cys)
c.437C>G (p.Ser146Cys)
3g.122262060C>TCA354152205CASRc.1025C>T (p.Ser342Phe)
c.542C>T (p.Ser181Phe)
c.437C>T (p.Ser146Phe)
 COSMIC
3g.122262061T>ACA435425035CASRc.1026T>A (p.Ser342=)
c.543T>A (p.Ser181=)
c.438T>A (p.Ser146=)
3g.122262061T>CCA2569579CASRc.1026T>C (p.Ser342=)
c.543T>C (p.Ser181=)
c.438T>C (p.Ser146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262061T>GCA435425037CASRc.1026T>G (p.Ser342=)
c.543T>G (p.Ser181=)
c.438T>G (p.Ser146=)
 gnomAD v4
3g.122262061T=CA1397873326CASRc.1026T= (p.Ser342=)
c.543T= (p.Ser181=)
c.438T= (p.Ser146=)
3g.122262062G>ACA2569580CASRc.1027G>A (p.Val343Ile)
c.544G>A (p.Val182Ile)
c.439G>A (p.Val147Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262062G>CCA354152210CASRc.1027G>C (p.Val343Leu)
c.544G>C (p.Val182Leu)
c.439G>C (p.Val147Leu)
3g.122262062G=CA1397873327CASRc.1027G= (p.Val343=)
c.544G= (p.Val182=)
c.439G= (p.Val147=)
3g.122262062G>TCA354152212CASRc.1027G>T (p.Val343Phe)
c.544G>T (p.Val182Phe)
c.439G>T (p.Val147Phe)
3g.122262063T>ACA354152216CASRc.1028T>A (p.Val343Asp)
c.545T>A (p.Val182Asp)
c.440T>A (p.Val147Asp)
3g.122262063T>CCA2569581CASRc.1028T>C (p.Val343Ala)
c.545T>C (p.Val182Ala)
c.440T>C (p.Val147Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262063T>GCA354152220CASRc.1028T>G (p.Val343Gly)
c.545T>G (p.Val182Gly)
c.440T>G (p.Val147Gly)
3g.122262063T=CA1397873329CASRc.1028T= (p.Val343=)
c.545T= (p.Val182=)
c.440T= (p.Val147=)
3g.122262064C>ACA435425042CASRc.1029C>A (p.Val343=)
c.546C>A (p.Val182=)
c.441C>A (p.Val147=)
 ClinVar gnomAD v4
3g.122262064C>GCA435425045CASRc.1029C>G (p.Val343=)
c.546C>G (p.Val182=)
c.441C>G (p.Val147=)
3g.122262064C>TCA435425046CASRc.1029C>T (p.Val343=)
c.546C>T (p.Val182=)
c.441C>T (p.Val147=)
3g.122262065C>ACA354152225CASRc.1030C>A (p.His344Asn)
c.547C>A (p.His183Asn)
c.442C>A (p.His148Asn)
3g.122262065C>GCA354152228CASRc.1030C>G (p.His344Asp)
c.547C>G (p.His183Asp)
c.442C>G (p.His148Asp)
3g.122262065C>TCA354152230CASRc.1030C>T (p.His344Tyr)
c.547C>T (p.His183Tyr)
c.442C>T (p.His148Tyr)
3g.122262065_122262068delinsCACACA1397873331CASRc.1030_1033delinsCACA (p.His344=)
c.547_550delinsCACA (p.His183=)
c.442_445delinsCACA (p.His148=)
3g.122262066A>CCA354152234CASRc.1031A>C (p.His344Pro)
c.548A>C (p.His183Pro)
c.443A>C (p.His148Pro)
3g.122262066A>GCA354152237CASRc.1031A>G (p.His344Arg)
c.548A>G (p.His183Arg)
c.443A>G (p.His148Arg)
3g.122262066A>TCA354152239CASRc.1031A>T (p.His344Leu)
c.548A>T (p.His183Leu)
c.443A>T (p.His148Leu)
 COSMIC
3g.122262066_122262069delinsTCA2586972807CASRc.1031_1034delinsT (p.His344_Asn345delinsLeu)
c.548_551delinsT (p.His183_Asn184delinsLeu)
c.443_446delinsT (p.His148_Asn149delinsLeu)
3g.122262067_122262069delCA1397873332CASRc.1032_1034del (p.Asn345del)
c.549_551del (p.Asn184del)
c.444_446del (p.Asn149del)
 dbSNP
3g.122262067C>ACA354152241CASRc.1032C>A (p.His344Gln)
c.549C>A (p.His183Gln)
c.444C>A (p.His148Gln)
3g.122262067C>GCA354152243CASRc.1032C>G (p.His344Gln)
c.549C>G (p.His183Gln)
c.444C>G (p.His148Gln)
3g.122262067C>TCA435425052CASRc.1032C>T (p.His344=)
c.549C>T (p.His183=)
c.444C>T (p.His148=)
 ClinVar dbSNP
3g.122262068A=CA1397873333CASRc.1033A= (p.Asn345=)
c.550A= (p.Asn184=)
c.445A= (p.Asn149=)
3g.122262068A>CCA354152249CASRc.1033A>C (p.Asn345His)
c.550A>C (p.Asn184His)
c.445A>C (p.Asn149His)
3g.122262068A>GCA2569582CASRc.1033A>G (p.Asn345Asp)
c.550A>G (p.Asn184Asp)
c.445A>G (p.Asn149Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262068A>TCA354152245CASRc.1033A>T (p.Asn345Tyr)
c.550A>T (p.Asn184Tyr)
c.445A>T (p.Asn149Tyr)
3g.122262069A=CA1397873335CASRc.1034A= (p.Asn345=)
c.551A= (p.Asn184=)
c.446A= (p.Asn149=)
3g.122262069A>CCA354152257CASRc.1034A>C (p.Asn345Thr)
c.551A>C (p.Asn184Thr)
c.446A>C (p.Asn149Thr)
3g.122262069A>GCA354152254CASRc.1034A>G (p.Asn345Ser)
c.551A>G (p.Asn184Ser)
c.446A>G (p.Asn149Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262069A>TCA354152256CASRc.1034A>T (p.Asn345Ile)
c.551A>T (p.Asn184Ile)
c.446A>T (p.Asn149Ile)
 ClinVar dbSNP
3g.122262070T>ACA354152260CASRc.1035T>A (p.Asn345Lys)
c.552T>A (p.Asn184Lys)
c.447T>A (p.Asn149Lys)
3g.122262070T>CCA435425060CASRc.1035T>C (p.Asn345=)
c.552T>C (p.Asn184=)
c.447T>C (p.Asn149=)
3g.122262070T>GCA2569583CASRc.1035T>G (p.Asn345Lys)
c.552T>G (p.Asn184Lys)
c.447T>G (p.Asn149Lys)
 dbSNP ExAC
3g.122262070T=CA1397873337CASRc.1035T= (p.Asn345=)
c.552T= (p.Asn184=)
c.447T= (p.Asn149=)
3g.122262071G>ACA354152273CASRc.1036G>A (p.Gly346Ser)
c.553G>A (p.Gly185Ser)
c.448G>A (p.Gly150Ser)
3g.122262071G>CCA354152275CASRc.1036G>C (p.Gly346Arg)
c.553G>C (p.Gly185Arg)
c.448G>C (p.Gly150Arg)
 ClinVar gnomAD v4
3g.122262071G>TCA354152277CASRc.1036G>T (p.Gly346Cys)
c.553G>T (p.Gly185Cys)
c.448G>T (p.Gly150Cys)
 gnomAD v4
3g.122262072G>ACA354152281CASRc.1037G>A (p.Gly346Asp)
c.554G>A (p.Gly185Asp)
c.449G>A (p.Gly150Asp)
 ClinVar dbSNP
3g.122262072G>CCA354152284CASRc.1037G>C (p.Gly346Ala)
c.554G>C (p.Gly185Ala)
c.449G>C (p.Gly150Ala)
3g.122262072G>TCA354152286CASRc.1037G>T (p.Gly346Val)
c.554G>T (p.Gly185Val)
c.449G>T (p.Gly150Val)
3g.122262073T>ACA435425063CASRc.1038T>A (p.Gly346=)
c.555T>A (p.Gly185=)
c.450T>A (p.Gly150=)
3g.122262073T>CCA435425067CASRc.1038T>C (p.Gly346=)
c.555T>C (p.Gly185=)
c.450T>C (p.Gly150=)
3g.122262073T>GCA435425065CASRc.1038T>G (p.Gly346=)
c.555T>G (p.Gly185=)
c.450T>G (p.Gly150=)
3g.122262074T>ACA354152290CASRc.1039T>A (p.Phe347Ile)
c.556T>A (p.Phe186Ile)
c.451T>A (p.Phe151Ile)
3g.122262074T>CCA354152292CASRc.1039T>C (p.Phe347Leu)
c.556T>C (p.Phe186Leu)
c.451T>C (p.Phe151Leu)
3g.122262074T>GCA354152294CASRc.1039T>G (p.Phe347Val)
c.556T>G (p.Phe186Val)
c.451T>G (p.Phe151Val)
3g.122262075T>ACA354152309CASRc.1040T>A (p.Phe347Tyr)
c.557T>A (p.Phe186Tyr)
c.452T>A (p.Phe151Tyr)
3g.122262075T>CCA354152298CASRc.1040T>C (p.Phe347Ser)
c.557T>C (p.Phe186Ser)
c.452T>C (p.Phe151Ser)
3g.122262075T>GCA354152306CASRc.1040T>G (p.Phe347Cys)
c.557T>G (p.Phe186Cys)
c.452T>G (p.Phe151Cys)
3g.122262076T>ACA354152313CASRc.1041T>A (p.Phe347Leu)
c.558T>A (p.Phe186Leu)
c.453T>A (p.Phe151Leu)
3g.122262076T>CCA435425072CASRc.1041T>C (p.Phe347=)
c.558T>C (p.Phe186=)
c.453T>C (p.Phe151=)
 dbSNP
3g.122262076T>GCA354152315CASRc.1041T>G (p.Phe347Leu)
c.558T>G (p.Phe186Leu)
c.453T>G (p.Phe151Leu)
3g.122262077G>ACA354152319CASRc.1042G>A (p.Ala348Thr)
c.559G>A (p.Ala187Thr)
c.454G>A (p.Ala152Thr)
3g.122262077G>CCA354152321CASRc.1042G>C (p.Ala348Pro)
c.559G>C (p.Ala187Pro)
c.454G>C (p.Ala152Pro)
3g.122262077G>TCA354152323CASRc.1042G>T (p.Ala348Ser)
c.559G>T (p.Ala187Ser)
c.454G>T (p.Ala152Ser)
3g.122262078C>ACA354152325CASRc.1043C>A (p.Ala348Asp)
c.560C>A (p.Ala187Asp)
c.455C>A (p.Ala152Asp)
 gnomAD v4
3g.122262078C=CA1397873338CASRc.1043C= (p.Ala348=)
c.560C= (p.Ala187=)
c.455C= (p.Ala152=)
3g.122262078C>GCA354152331CASRc.1043C>G (p.Ala348Gly)
c.560C>G (p.Ala187Gly)
c.455C>G (p.Ala152Gly)
3g.122262078C>TCA354152335CASRc.1043C>T (p.Ala348Val)
c.560C>T (p.Ala187Val)
c.455C>T (p.Ala152Val)
 ClinVar dbSNP
3g.122262078_122262079delinsAACA2573136451CASRc.1043_1044delinsAA (p.Ala348Glu)
c.560_561delinsAA (p.Ala187Glu)
c.455_456delinsAA (p.Ala152Glu)
 ClinVar dbSNP
3g.122262079C>ACA2569584CASRc.1044C>A (p.Ala348=)
c.561C>A (p.Ala187=)
c.456C>A (p.Ala152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262079C=CA1397873340CASRc.1044C= (p.Ala348=)
c.561C= (p.Ala187=)
c.456C= (p.Ala152=)
3g.122262079C>GCA435425077CASRc.1044C>G (p.Ala348=)
c.561C>G (p.Ala187=)
c.456C>G (p.Ala152=)
3g.122262079C>TCA435425079CASRc.1044C>T (p.Ala348=)
c.561C>T (p.Ala187=)
c.456C>T (p.Ala152=)
 ClinVar gnomAD v4
3g.122262080A=CA1397873346CASRc.1045A= (p.Lys349=)
c.562A= (p.Lys188=)
c.457A= (p.Lys153=)
3g.122262080A>CCA354152341CASRc.1045A>C (p.Lys349Gln)
c.562A>C (p.Lys188Gln)
c.457A>C (p.Lys153Gln)
3g.122262080A>GCA354152344CASRc.1045A>G (p.Lys349Glu)
c.562A>G (p.Lys188Glu)
c.457A>G (p.Lys153Glu)
 ClinVar dbSNP
3g.122262080A>TCA354152346CASRc.1045A>T (p.Lys349Ter)
c.562A>T (p.Lys188Ter)
c.457A>T (p.Lys153Ter)
3g.122262081A>CCA354152354CASRc.1046A>C (p.Lys349Thr)
c.563A>C (p.Lys188Thr)
c.458A>C (p.Lys153Thr)
3g.122262081A>GCA354152357CASRc.1046A>G (p.Lys349Arg)
c.563A>G (p.Lys188Arg)
c.458A>G (p.Lys153Arg)
3g.122262081A>TCA354152352CASRc.1046A>T (p.Lys349Met)
c.563A>T (p.Lys188Met)
c.458A>T (p.Lys153Met)
3g.122262083_122262085delCA2667224937CASRc.1048_1050del (p.Glu350del)
c.565_567del (p.Glu189del)
c.460_462del (p.Glu154del)
 gnomAD v4
3g.122262082G>ACA435425089CASRc.1047G>A (p.Lys349=)
c.564G>A (p.Lys188=)
c.459G>A (p.Lys153=)
 gnomAD v4
3g.122262082G>CCA354152359CASRc.1047G>C (p.Lys349Asn)
c.564G>C (p.Lys188Asn)
c.459G>C (p.Lys153Asn)
3g.122262082G>TCA354152362CASRc.1047G>T (p.Lys349Asn)
c.564G>T (p.Lys188Asn)
c.459G>T (p.Lys153Asn)
3g.122262083G>ACA354152366CASRc.1048G>A (p.Glu350Lys)
c.565G>A (p.Glu189Lys)
c.460G>A (p.Glu154Lys)
 gnomAD v4 COSMIC
3g.122262083G>CCA354152369CASRc.1048G>C (p.Glu350Gln)
c.565G>C (p.Glu189Gln)
c.460G>C (p.Glu154Gln)
 gnomAD v4
3g.122262083G>TCA354152371CASRc.1048G>T (p.Glu350Ter)
c.565G>T (p.Glu189Ter)
c.460G>T (p.Glu154Ter)
 ClinVar
3g.122262084A>CCA354152373CASRc.1049A>C (p.Glu350Ala)
c.566A>C (p.Glu189Ala)
c.461A>C (p.Glu154Ala)
3g.122262084A>GCA354152376CASRc.1049A>G (p.Glu350Gly)
c.566A>G (p.Glu189Gly)
c.461A>G (p.Glu154Gly)
3g.122262084A>TCA354152379CASRc.1049A>T (p.Glu350Val)
c.566A>T (p.Glu189Val)
c.461A>T (p.Glu154Val)
 COSMIC
3g.122262085G>ACA2569585CASRc.1050G>A (p.Glu350=)
c.567G>A (p.Glu189=)
c.462G>A (p.Glu154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262085G>CCA354152384CASRc.1050G>C (p.Glu350Asp)
c.567G>C (p.Glu189Asp)
c.462G>C (p.Glu154Asp)
3g.122262085G=CA1397873348CASRc.1050G= (p.Glu350=)
c.567G= (p.Glu189=)
c.462G= (p.Glu154=)
3g.122262085G>TCA354152387CASRc.1050G>T (p.Glu350Asp)
c.567G>T (p.Glu189Asp)
c.462G>T (p.Glu154Asp)
3g.122262086T>ACA354152390CASRc.1051T>A (p.Phe351Ile)
c.568T>A (p.Phe190Ile)
c.463T>A (p.Phe155Ile)
3g.122262086T>CCA354152393CASRc.1051T>C (p.Phe351Leu)
c.568T>C (p.Phe190Leu)
c.463T>C (p.Phe155Leu)
3g.122262086T>GCA354152396CASRc.1051T>G (p.Phe351Val)
c.568T>G (p.Phe190Val)
c.463T>G (p.Phe155Val)
3g.122262089dupCA645532162CASRc.1054dup (p.Trp352LeufsTer6)
c.571dup (p.Trp191LeufsTer6)
c.466dup (p.Trp156LeufsTer6)
 COSMIC
3g.122262089delCA2499216411CASRc.1054del (p.Trp352GlyfsTer23)
c.571del (p.Trp191GlyfsTer23)
c.466del (p.Trp156GlyfsTer23)
 ClinVar dbSNP
3g.122262087T>ACA354152405CASRc.1052T>A (p.Phe351Tyr)
c.569T>A (p.Phe190Tyr)
c.464T>A (p.Phe155Tyr)
3g.122262087T>CCA354152398CASRc.1052T>C (p.Phe351Ser)
c.569T>C (p.Phe190Ser)
c.464T>C (p.Phe155Ser)
3g.122262087T>GCA354152403CASRc.1052T>G (p.Phe351Cys)
c.569T>G (p.Phe190Cys)
c.464T>G (p.Phe155Cys)
3g.122262088T>ACA354152407CASRc.1053T>A (p.Phe351Leu)
c.570T>A (p.Phe190Leu)
c.465T>A (p.Phe155Leu)
3g.122262088T>CCA435425110CASRc.1053T>C (p.Phe351=)
c.570T>C (p.Phe190=)
c.465T>C (p.Phe155=)
3g.122262088T>GCA354152410CASRc.1053T>G (p.Phe351Leu)
c.570T>G (p.Phe190Leu)
c.465T>G (p.Phe155Leu)
3g.122262089T>ACA354152412CASRc.1054T>A (p.Trp352Arg)
c.571T>A (p.Trp191Arg)
c.466T>A (p.Trp156Arg)
3g.122262089T>CCA354152415CASRc.1054T>C (p.Trp352Arg)
c.571T>C (p.Trp191Arg)
c.466T>C (p.Trp156Arg)
 ClinVar dbSNP
3g.122262089T>GCA354152417CASRc.1054T>G (p.Trp352Gly)
c.571T>G (p.Trp191Gly)
c.466T>G (p.Trp156Gly)
 ClinVar
3g.122262090G>ACA354152419CASRc.1055G>A (p.Trp352Ter)
c.572G>A (p.Trp191Ter)
c.467G>A (p.Trp156Ter)
3g.122262090G>CCA354152422CASRc.1055G>C (p.Trp352Ser)
c.572G>C (p.Trp191Ser)
c.467G>C (p.Trp156Ser)
3g.122262090G>TCA354152425CASRc.1055G>T (p.Trp352Leu)
c.572G>T (p.Trp191Leu)
c.467G>T (p.Trp156Leu)
3g.122262091G>ACA354152428CASRc.1056G>A (p.Trp352Ter)
c.573G>A (p.Trp191Ter)
c.468G>A (p.Trp156Ter)
 ClinVar dbSNP
3g.122262091G>CCA354152431CASRc.1056G>C (p.Trp352Cys)
c.573G>C (p.Trp191Cys)
c.468G>C (p.Trp156Cys)
3g.122262091G>TCA354152433CASRc.1056G>T (p.Trp352Cys)
c.573G>T (p.Trp191Cys)
c.468G>T (p.Trp156Cys)
3g.122262092G>ACA354152439CASRc.1057G>A (p.Glu353Lys)
c.574G>A (p.Glu192Lys)
c.469G>A (p.Glu157Lys)
 COSMIC
3g.122262092G>CCA354152436CASRc.1057G>C (p.Glu353Gln)
c.574G>C (p.Glu192Gln)
c.469G>C (p.Glu157Gln)
3g.122262092G>TCA354152435CASRc.1057G>T (p.Glu353Ter)
c.574G>T (p.Glu192Ter)
c.469G>T (p.Glu157Ter)
3g.122262093A=CA1397873351CASRc.1058A= (p.Glu353=)
c.575A= (p.Glu192=)
c.470A= (p.Glu157=)
3g.122262093A>CCA213557CASRc.1058A>C (p.Glu353Ala)
c.575A>C (p.Glu192Ala)
c.470A>C (p.Glu157Ala)
 ClinVar dbSNP
3g.122262093A>GCA354152443CASRc.1058A>G (p.Glu353Gly)
c.575A>G (p.Glu192Gly)
c.470A>G (p.Glu157Gly)
3g.122262093A>TCA354152445CASRc.1058A>T (p.Glu353Val)
c.575A>T (p.Glu192Val)
c.470A>T (p.Glu157Val)

Number of alleles fetched