Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261996_122261997del | CA2573136447 | CASR | c.961_962del (p.Ala321SerfsTer?) c.478_479del (p.Ala160SerfsTer?) c.373_374del (p.Ala125SerfsTer?) | ClinVar dbSNP |
3 | g.122261996G>A | CA354151806 | CASR | c.961G>A (p.Ala321Thr) c.478G>A (p.Ala160Thr) c.373G>A (p.Ala125Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261996G>C | CA354151808 | CASR | c.961G>C (p.Ala321Pro) c.478G>C (p.Ala160Pro) c.373G>C (p.Ala125Pro) | |
3 | g.122261996G= | CA1397873264 | CASR | c.961G= (p.Ala321=) c.478G= (p.Ala160=) c.373G= (p.Ala125=) | |
3 | g.122261996G>T | CA354151812 | CASR | c.961G>T (p.Ala321Ser) c.478G>T (p.Ala160Ser) c.373G>T (p.Ala125Ser) | ClinVar dbSNP |
3 | g.122261997C>A | CA354151816 | CASR | c.962C>A (p.Ala321Asp) c.479C>A (p.Ala160Asp) c.374C>A (p.Ala125Asp) | |
3 | g.122261997C>G | CA354151817 | CASR | c.962C>G (p.Ala321Gly) c.479C>G (p.Ala160Gly) c.374C>G (p.Ala125Gly) | |
3 | g.122261997C>T | CA354151820 | CASR | c.962C>T (p.Ala321Val) c.479C>T (p.Ala160Val) c.374C>T (p.Ala125Val) | gnomAD v4 |
3 | g.122261998T>A | CA435424679 | CASR | c.963T>A (p.Ala321=) c.480T>A (p.Ala160=) c.375T>A (p.Ala125=) | |
3 | g.122261998T>C | CA435424680 | CASR | c.963T>C (p.Ala321=) c.480T>C (p.Ala160=) c.375T>C (p.Ala125=) | |
3 | g.122261998T>G | CA435424681 | CASR | c.963T>G (p.Ala321=) c.480T>G (p.Ala160=) c.375T>G (p.Ala125=) | |
3 | g.122261999C>A | CA354151823 | CASR | c.964C>A (p.Leu322Met) c.481C>A (p.Leu161Met) c.376C>A (p.Leu126Met) | |
3 | g.122261999C>G | CA354151825 | CASR | c.964C>G (p.Leu322Val) c.481C>G (p.Leu161Val) c.376C>G (p.Leu126Val) | |
3 | g.122261999C>T | CA435424682 | CASR | c.964C>T (p.Leu322=) c.481C>T (p.Leu161=) c.376C>T (p.Leu126=) | ClinVar dbSNP |
3 | g.122262000T>A | CA354151828 | CASR | c.965T>A (p.Leu322Gln) c.482T>A (p.Leu161Gln) c.377T>A (p.Leu126Gln) | |
3 | g.122262000T>C | CA354151834 | CASR | c.965T>C (p.Leu322Pro) c.482T>C (p.Leu161Pro) c.377T>C (p.Leu126Pro) | |
3 | g.122262000T>G | CA354151831 | CASR | c.965T>G (p.Leu322Arg) c.482T>G (p.Leu161Arg) c.377T>G (p.Leu126Arg) | gnomAD v4 |
3 | g.122262001G>A | CA435424684 | CASR | c.966G>A (p.Leu322=) c.483G>A (p.Leu161=) c.378G>A (p.Leu126=) | |
3 | g.122262001G>C | CA435424685 | CASR | c.966G>C (p.Leu322=) c.483G>C (p.Leu161=) c.378G>C (p.Leu126=) | |
3 | g.122262001G>T | CA435424686 | CASR | c.966G>T (p.Leu322=) c.483G>T (p.Leu161=) c.378G>T (p.Leu126=) | |
3 | g.122262002A>C | CA354151838 | CASR | c.967A>C (p.Lys323Gln) c.484A>C (p.Lys162Gln) c.379A>C (p.Lys127Gln) | |
3 | g.122262002A>G | CA354151842 | CASR | c.967A>G (p.Lys323Glu) c.484A>G (p.Lys162Glu) c.379A>G (p.Lys127Glu) | |
3 | g.122262002A>T | CA354151840 | CASR | c.967A>T (p.Lys323Ter) c.484A>T (p.Lys162Ter) c.379A>T (p.Lys127Ter) | gnomAD v4 |
3 | g.122262003A= | CA1397873266 | CASR | c.968A= (p.Lys323=) c.485A= (p.Lys162=) c.380A= (p.Lys127=) | |
3 | g.122262003A>C | CA354151845 | CASR | c.968A>C (p.Lys323Thr) c.485A>C (p.Lys162Thr) c.380A>C (p.Lys127Thr) | ClinVar dbSNP |
3 | g.122262003A>G | CA354151851 | CASR | c.968A>G (p.Lys323Arg) c.485A>G (p.Lys162Arg) c.380A>G (p.Lys127Arg) | |
3 | g.122262003A>T | CA354151848 | CASR | c.968A>T (p.Lys323Met) c.485A>T (p.Lys162Met) c.380A>T (p.Lys127Met) | |
3 | g.122262004G>A | CA435424689 | CASR | c.969G>A (p.Lys323=) c.486G>A (p.Lys162=) c.381G>A (p.Lys127=) | ClinVar dbSNP |
3 | g.122262004G>C | CA354151853 | CASR | c.969G>C (p.Lys323Asn) c.486G>C (p.Lys162Asn) c.381G>C (p.Lys127Asn) | |
3 | g.122262004G= | CA1397873268 | CASR | c.969G= (p.Lys323=) c.486G= (p.Lys162=) c.381G= (p.Lys127=) | |
3 | g.122262004G>T | CA354151856 | CASR | c.969G>T (p.Lys323Asn) c.486G>T (p.Lys162Asn) c.381G>T (p.Lys127Asn) | |
3 | g.122262005G>A | CA354151859 | CASR | c.970G>A (p.Ala324Thr) c.487G>A (p.Ala163Thr) c.382G>A (p.Ala128Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262005G>C | CA2569568 | CASR | c.970G>C (p.Ala324Pro) c.487G>C (p.Ala163Pro) c.382G>C (p.Ala128Pro) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122262005G= | CA1397873270 | CASR | c.970G= (p.Ala324=) c.487G= (p.Ala163=) c.382G= (p.Ala128=) | |
3 | g.122262005G>T | CA354151863 | CASR | c.970G>T (p.Ala324Ser) c.487G>T (p.Ala163Ser) c.382G>T (p.Ala128Ser) | |
3 | g.122262006C>A | CA354151871 | CASR | c.971C>A (p.Ala324Asp) c.488C>A (p.Ala163Asp) c.383C>A (p.Ala128Asp) | ClinVar |
3 | g.122262006C>G | CA354151869 | CASR | c.971C>G (p.Ala324Gly) c.488C>G (p.Ala163Gly) c.383C>G (p.Ala128Gly) | ClinVar |
3 | g.122262006C>T | CA354151867 | CASR | c.971C>T (p.Ala324Val) c.488C>T (p.Ala163Val) c.383C>T (p.Ala128Val) | |
3 | g.122262007T>A | CA435424692 | CASR | c.972T>A (p.Ala324=) c.489T>A (p.Ala163=) c.384T>A (p.Ala128=) | |
3 | g.122262007T>C | CA435424693 | CASR | c.972T>C (p.Ala324=) c.489T>C (p.Ala163=) c.384T>C (p.Ala128=) | |
3 | g.122262007T>G | CA435424694 | CASR | c.972T>G (p.Ala324=) c.489T>G (p.Ala163=) c.384T>G (p.Ala128=) | |
3 | g.122262008G>A | CA354151874 | CASR | c.973G>A (p.Gly325Arg) c.490G>A (p.Gly164Arg) c.385G>A (p.Gly129Arg) | ClinVar COSMIC |
3 | g.122262008G>C | CA2569569 | CASR | c.973G>C (p.Gly325Arg) c.490G>C (p.Gly164Arg) c.385G>C (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262008G= | CA1397873271 | CASR | c.973G= (p.Gly325=) c.490G= (p.Gly164=) c.385G= (p.Gly129=) | |
3 | g.122262008G>T | CA354151877 | CASR | c.973G>T (p.Gly325Trp) c.490G>T (p.Gly164Trp) c.385G>T (p.Gly129Trp) | |
3 | g.122262009G>A | CA213606 | CASR | c.974G>A (p.Gly325Glu) c.491G>A (p.Gly164Glu) c.386G>A (p.Gly129Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262009G>C | CA82738718 | CASR | c.974G>C (p.Gly325Ala) c.491G>C (p.Gly164Ala) c.386G>C (p.Gly129Ala) | dbSNP |
3 | g.122262009G= | CA1397873273 | CASR | c.974G= (p.Gly325=) c.491G= (p.Gly164=) c.386G= (p.Gly129=) | |
3 | g.122262009G>T | CA354151882 | CASR | c.974G>T (p.Gly325Val) c.491G>T (p.Gly164Val) c.386G>T (p.Gly129Val) | |
3 | g.122262010G>A | CA435424699 | CASR | c.975G>A (p.Gly325=) c.492G>A (p.Gly164=) c.387G>A (p.Gly129=) | ClinVar |
3 | g.122262010G>C | CA435424700 | CASR | c.975G>C (p.Gly325=) c.492G>C (p.Gly164=) c.387G>C (p.Gly129=) | |
3 | g.122262010G>T | CA435424702 | CASR | c.975G>T (p.Gly325=) c.492G>T (p.Gly164=) c.387G>T (p.Gly129=) | gnomAD v4 |
3 | g.122262011C>A | CA354151889 | CASR | c.976C>A (p.Gln326Lys) c.493C>A (p.Gln165Lys) c.388C>A (p.Gln130Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262011C= | CA1397873276 | CASR | c.976C= (p.Gln326=) c.493C= (p.Gln165=) c.388C= (p.Gln130=) | |
3 | g.122262011C>G | CA354151884 | CASR | c.976C>G (p.Gln326Glu) c.493C>G (p.Gln165Glu) c.388C>G (p.Gln130Glu) | |
3 | g.122262011C>T | CA354151887 | CASR | c.976C>T (p.Gln326Ter) c.493C>T (p.Gln165Ter) c.388C>T (p.Gln130Ter) | ClinVar |
3 | g.122262012A>C | CA354151893 | CASR | c.977A>C (p.Gln326Pro) c.494A>C (p.Gln165Pro) c.389A>C (p.Gln130Pro) | |
3 | g.122262012A>G | CA354151895 | CASR | c.977A>G (p.Gln326Arg) c.494A>G (p.Gln165Arg) c.389A>G (p.Gln130Arg) | |
3 | g.122262012A>T | CA354151898 | CASR | c.977A>T (p.Gln326Leu) c.494A>T (p.Gln165Leu) c.389A>T (p.Gln130Leu) | ClinVar |
3 | g.122262013G>A | CA82738724 | CASR | c.978G>A (p.Gln326=) c.495G>A (p.Gln165=) c.390G>A (p.Gln130=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262013G>C | CA354151901 | CASR | c.978G>C (p.Gln326His) c.495G>C (p.Gln165His) c.390G>C (p.Gln130His) | |
3 | g.122262013G= | CA1397873277 | CASR | c.978G= (p.Gln326=) c.495G= (p.Gln165=) c.390G= (p.Gln130=) | |
3 | g.122262013G>T | CA354151904 | CASR | c.978G>T (p.Gln326His) c.495G>T (p.Gln165His) c.390G>T (p.Gln130His) | |
3 | g.122262014A>C | CA354151908 | CASR | c.979A>C (p.Ile327Leu) c.496A>C (p.Ile166Leu) c.391A>C (p.Ile131Leu) | |
3 | g.122262014A>G | CA354151910 | CASR | c.979A>G (p.Ile327Val) c.496A>G (p.Ile166Val) c.391A>G (p.Ile131Val) | |
3 | g.122262014A>T | CA354151913 | CASR | c.979A>T (p.Ile327Phe) c.496A>T (p.Ile166Phe) c.391A>T (p.Ile131Phe) | |
3 | g.122262015T>A | CA354151916 | CASR | c.980T>A (p.Ile327Asn) c.497T>A (p.Ile166Asn) c.392T>A (p.Ile131Asn) | |
3 | g.122262015T>C | CA354151918 | CASR | c.980T>C (p.Ile327Thr) c.497T>C (p.Ile166Thr) c.392T>C (p.Ile131Thr) | |
3 | g.122262015T>G | CA354151921 | CASR | c.980T>G (p.Ile327Ser) c.497T>G (p.Ile166Ser) c.392T>G (p.Ile131Ser) | |
3 | g.122262016C>A | CA435424717 | CASR | c.981C>A (p.Ile327=) c.498C>A (p.Ile166=) c.393C>A (p.Ile131=) | |
3 | g.122262016C= | CA1397873280 | CASR | c.981C= (p.Ile327=) c.498C= (p.Ile166=) c.393C= (p.Ile131=) | |
3 | g.122262016C>G | CA354151923 | CASR | c.981C>G (p.Ile327Met) c.498C>G (p.Ile166Met) c.393C>G (p.Ile131Met) | ClinVar dbSNP |
3 | g.122262016C>T | CA435424713 | CASR | c.981C>T (p.Ile327=) c.498C>T (p.Ile166=) c.393C>T (p.Ile131=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262017C>A | CA354151925 | CASR | c.982C>A (p.Pro328Thr) c.499C>A (p.Pro167Thr) c.394C>A (p.Pro132Thr) | |
3 | g.122262017C>G | CA354151931 | CASR | c.982C>G (p.Pro328Ala) c.499C>G (p.Pro167Ala) c.394C>G (p.Pro132Ala) | |
3 | g.122262017C>T | CA354151928 | CASR | c.982C>T (p.Pro328Ser) c.499C>T (p.Pro167Ser) c.394C>T (p.Pro132Ser) | |
3 | g.122262018C>A | CA354151935 | CASR | c.983C>A (p.Pro328Gln) c.500C>A (p.Pro167Gln) c.395C>A (p.Pro132Gln) | |
3 | g.122262018C>G | CA354151938 | CASR | c.983C>G (p.Pro328Arg) c.500C>G (p.Pro167Arg) c.395C>G (p.Pro132Arg) | |
3 | g.122262018C>T | CA354151941 | CASR | c.983C>T (p.Pro328Leu) c.500C>T (p.Pro167Leu) c.395C>T (p.Pro132Leu) | |
3 | g.122262019A>C | CA435424721 | CASR | c.984A>C (p.Pro328=) c.501A>C (p.Pro167=) c.396A>C (p.Pro132=) | |
3 | g.122262019A>G | CA435424723 | CASR | c.984A>G (p.Pro328=) c.501A>G (p.Pro167=) c.396A>G (p.Pro132=) | |
3 | g.122262019A>T | CA435424722 | CASR | c.984A>T (p.Pro328=) c.501A>T (p.Pro167=) c.396A>T (p.Pro132=) | |
3 | g.122262020G>A | CA354151945 | CASR | c.985G>A (p.Gly329Ser) c.502G>A (p.Gly168Ser) c.397G>A (p.Gly133Ser) | COSMIC |
3 | g.122262020G>C | CA354151947 | CASR | c.985G>C (p.Gly329Arg) c.502G>C (p.Gly168Arg) c.397G>C (p.Gly133Arg) | |
3 | g.122262020G>T | CA354151952 | CASR | c.985G>T (p.Gly329Cys) c.502G>T (p.Gly168Cys) c.397G>T (p.Gly133Cys) | |
3 | g.122262021_122262029del | CA2573136449 | CASR | c.986_994del (p.Gly329_Arg331del) c.503_511del (p.Gly168_Arg170del) c.398_406del (p.Gly133_Arg135del) | ClinVar dbSNP |
3 | g.122262021G>A | CA354151956 | CASR | c.986G>A (p.Gly329Asp) c.503G>A (p.Gly168Asp) c.398G>A (p.Gly133Asp) | |
3 | g.122262021G>C | CA354151961 | CASR | c.986G>C (p.Gly329Ala) c.503G>C (p.Gly168Ala) c.398G>C (p.Gly133Ala) | |
3 | g.122262021G>T | CA354151963 | CASR | c.986G>T (p.Gly329Val) c.503G>T (p.Gly168Val) c.398G>T (p.Gly133Val) | |
3 | g.122262022C>A | CA435424927 | CASR | c.987C>A (p.Gly329=) c.504C>A (p.Gly168=) c.399C>A (p.Gly133=) | gnomAD v4 |
3 | g.122262022C= | CA1397873282 | CASR | c.987C= (p.Gly329=) c.504C= (p.Gly168=) c.399C= (p.Gly133=) | |
3 | g.122262022C>G | CA435424928 | CASR | c.987C>G (p.Gly329=) c.504C>G (p.Gly168=) c.399C>G (p.Gly133=) | |
3 | g.122262022C>T | CA435424929 | CASR | c.987C>T (p.Gly329=) c.504C>T (p.Gly168=) c.399C>T (p.Gly133=) | ClinVar dbSNP gnomAD v4 |
3 | g.122262023T>A | CA354151965 | CASR | c.988T>A (p.Phe330Ile) c.505T>A (p.Phe169Ile) c.400T>A (p.Phe134Ile) | |
3 | g.122262023T>C | CA354151968 | CASR | c.988T>C (p.Phe330Leu) c.505T>C (p.Phe169Leu) c.400T>C (p.Phe134Leu) | gnomAD v4 |
3 | g.122262023T>G | CA354151970 | CASR | c.988T>G (p.Phe330Val) c.505T>G (p.Phe169Val) c.400T>G (p.Phe134Val) | |
3 | g.122262024T>A | CA354151975 | CASR | c.989T>A (p.Phe330Tyr) c.506T>A (p.Phe169Tyr) c.401T>A (p.Phe134Tyr) | |
3 | g.122262024T>C | CA354151973 | CASR | c.989T>C (p.Phe330Ser) c.506T>C (p.Phe169Ser) c.401T>C (p.Phe134Ser) | |
3 | g.122262024T>G | CA354151974 | CASR | c.989T>G (p.Phe330Cys) c.506T>G (p.Phe169Cys) c.401T>G (p.Phe134Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262024T= | CA1397873284 | CASR | c.989T= (p.Phe330=) c.506T= (p.Phe169=) c.401T= (p.Phe134=) | |
3 | g.122262025C>A | CA354151977 | CASR | c.990C>A (p.Phe330Leu) c.507C>A (p.Phe169Leu) c.402C>A (p.Phe134Leu) | |
3 | g.122262025C>G | CA354151980 | CASR | c.990C>G (p.Phe330Leu) c.507C>G (p.Phe169Leu) c.402C>G (p.Phe134Leu) | |
3 | g.122262025C>T | CA435424938 | CASR | c.990C>T (p.Phe330=) c.507C>T (p.Phe169=) c.402C>T (p.Phe134=) | |
3 | g.122262026C>A | CA435424939 | CASR | c.991C>A (p.Arg331=) c.508C>A (p.Arg170=) c.403C>A (p.Arg135=) | |
3 | g.122262026C= | CA1397873287 | CASR | c.991C= (p.Arg331=) c.508C= (p.Arg170=) c.403C= (p.Arg135=) | |
3 | g.122262026C>G | CA354151982 | CASR | c.991C>G (p.Arg331Gly) c.508C>G (p.Arg170Gly) c.403C>G (p.Arg135Gly) | |
3 | g.122262026C>T | CA354151985 | CASR | c.991C>T (p.Arg331Trp) c.508C>T (p.Arg170Trp) c.403C>T (p.Arg135Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122262027G>A | CA2569570 | CASR | c.992G>A (p.Arg331Gln) c.509G>A (p.Arg170Gln) c.404G>A (p.Arg135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262027G>C | CA354151990 | CASR | c.992G>C (p.Arg331Pro) c.509G>C (p.Arg170Pro) c.404G>C (p.Arg135Pro) | ClinVar dbSNP |
3 | g.122262027G= | CA1397873290 | CASR | c.992G= (p.Arg331=) c.509G= (p.Arg170=) c.404G= (p.Arg135=) | |
3 | g.122262027G>T | CA354151992 | CASR | c.992G>T (p.Arg331Leu) c.509G>T (p.Arg170Leu) c.404G>T (p.Arg135Leu) | ClinVar dbSNP |
3 | g.122262029del | CA2740094564 | CASR | c.994del (p.Glu332AsnfsTer3) c.511del (p.Glu171AsnfsTer3) c.406del (p.Glu136AsnfsTer3) | ClinVar |
3 | g.122262028G>A | CA435424943 | CASR | c.993G>A (p.Arg331=) c.510G>A (p.Arg170=) c.405G>A (p.Arg135=) | gnomAD v4 COSMIC |
3 | g.122262028G>C | CA435424944 | CASR | c.993G>C (p.Arg331=) c.510G>C (p.Arg170=) c.405G>C (p.Arg135=) | |
3 | g.122262028G>T | CA435424945 | CASR | c.993G>T (p.Arg331=) c.510G>T (p.Arg170=) c.405G>T (p.Arg135=) | |
3 | g.122262029G>A | CA354151996 | CASR | c.994G>A (p.Glu332Lys) c.511G>A (p.Glu171Lys) c.406G>A (p.Glu136Lys) | ClinVar COSMIC |
3 | g.122262029G>C | CA354151998 | CASR | c.994G>C (p.Glu332Gln) c.511G>C (p.Glu171Gln) c.406G>C (p.Glu136Gln) | |
3 | g.122262029G>T | CA354152001 | CASR | c.994G>T (p.Glu332Ter) c.511G>T (p.Glu171Ter) c.406G>T (p.Glu136Ter) | |
3 | g.122262030A>C | CA354152008 | CASR | c.995A>C (p.Glu332Ala) c.512A>C (p.Glu171Ala) c.407A>C (p.Glu136Ala) | |
3 | g.122262030A>G | CA354152006 | CASR | c.995A>G (p.Glu332Gly) c.512A>G (p.Glu171Gly) c.407A>G (p.Glu136Gly) | ClinVar |
3 | g.122262030A>T | CA354152004 | CASR | c.995A>T (p.Glu332Val) c.512A>T (p.Glu171Val) c.407A>T (p.Glu136Val) | |
3 | g.122262031A>C | CA354152012 | CASR | c.996A>C (p.Glu332Asp) c.513A>C (p.Glu171Asp) c.408A>C (p.Glu136Asp) | |
3 | g.122262031A>G | CA435424952 | CASR | c.996A>G (p.Glu332=) c.513A>G (p.Glu171=) c.408A>G (p.Glu136=) | gnomAD v4 |
3 | g.122262031A>T | CA354152014 | CASR | c.996A>T (p.Glu332Asp) c.513A>T (p.Glu171Asp) c.408A>T (p.Glu136Asp) | |
3 | g.122262032T>A | CA354152016 | CASR | c.997T>A (p.Phe333Ile) c.514T>A (p.Phe172Ile) c.409T>A (p.Phe137Ile) | |
3 | g.122262032T>C | CA354152019 | CASR | c.997T>C (p.Phe333Leu) c.514T>C (p.Phe172Leu) c.409T>C (p.Phe137Leu) | |
3 | g.122262032T>G | CA354152021 | CASR | c.997T>G (p.Phe333Val) c.514T>G (p.Phe172Val) c.409T>G (p.Phe137Val) | |
3 | g.122262033T>A | CA354152025 | CASR | c.998T>A (p.Phe333Tyr) c.515T>A (p.Phe172Tyr) c.410T>A (p.Phe137Tyr) | |
3 | g.122262033T>C | CA354152027 | CASR | c.998T>C (p.Phe333Ser) c.515T>C (p.Phe172Ser) c.410T>C (p.Phe137Ser) | ClinVar |
3 | g.122262033T>G | CA354152030 | CASR | c.998T>G (p.Phe333Cys) c.515T>G (p.Phe172Cys) c.410T>G (p.Phe137Cys) | |
3 | g.122262034C>A | CA354152032 | CASR | c.999C>A (p.Phe333Leu) c.516C>A (p.Phe172Leu) c.411C>A (p.Phe137Leu) | |
3 | g.122262034C= | CA1397873292 | CASR | c.999C= (p.Phe333=) c.516C= (p.Phe172=) c.411C= (p.Phe137=) | |
3 | g.122262034C>G | CA354152035 | CASR | c.999C>G (p.Phe333Leu) c.516C>G (p.Phe172Leu) c.411C>G (p.Phe137Leu) | |
3 | g.122262034C>T | CA2569571 | CASR | c.999C>T (p.Phe333=) c.516C>T (p.Phe172=) c.411C>T (p.Phe137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262035C>A | CA354152040 | CASR | c.1000C>A (p.Leu334Met) c.517C>A (p.Leu173Met) c.412C>A (p.Leu138Met) | |
3 | g.122262035C>G | CA354152042 | CASR | c.1000C>G (p.Leu334Val) c.517C>G (p.Leu173Val) c.412C>G (p.Leu138Val) | |
3 | g.122262035C>T | CA435424965 | CASR | c.1000C>T (p.Leu334=) c.517C>T (p.Leu173=) c.412C>T (p.Leu138=) | gnomAD v4 |
3 | g.122262036T>A | CA354152049 | CASR | c.1001T>A (p.Leu334Gln) c.518T>A (p.Leu173Gln) c.413T>A (p.Leu138Gln) | |
3 | g.122262036T>C | CA354152045 | CASR | c.1001T>C (p.Leu334Pro) c.518T>C (p.Leu173Pro) c.413T>C (p.Leu138Pro) | COSMIC |
3 | g.122262036T>G | CA354152047 | CASR | c.1001T>G (p.Leu334Arg) c.518T>G (p.Leu173Arg) c.413T>G (p.Leu138Arg) | |
3 | g.122262037G>A | CA435424970 | CASR | c.1002G>A (p.Leu334=) c.519G>A (p.Leu173=) c.414G>A (p.Leu138=) | ClinVar dbSNP |
3 | g.122262037G>C | CA435424971 | CASR | c.1002G>C (p.Leu334=) c.519G>C (p.Leu173=) c.414G>C (p.Leu138=) | |
3 | g.122262037G>T | CA435424972 | CASR | c.1002G>T (p.Leu334=) c.519G>T (p.Leu173=) c.414G>T (p.Leu138=) | |
3 | g.122262041_122262043del | CA2586972806 | CASR | c.1006_1008del (p.Lys336del) c.523_525del (p.Lys175del) c.418_420del (p.Lys140del) | |
3 | g.122262038A>C | CA354152053 | CASR | c.1003A>C (p.Lys335Gln) c.520A>C (p.Lys174Gln) c.415A>C (p.Lys139Gln) | |
3 | g.122262038A>G | CA354152055 | CASR | c.1003A>G (p.Lys335Glu) c.520A>G (p.Lys174Glu) c.415A>G (p.Lys139Glu) | |
3 | g.122262038A>T | CA354152058 | CASR | c.1003A>T (p.Lys335Ter) c.520A>T (p.Lys174Ter) c.415A>T (p.Lys139Ter) | |
3 | g.122262039A>C | CA354152062 | CASR | c.1004A>C (p.Lys335Thr) c.521A>C (p.Lys174Thr) c.416A>C (p.Lys139Thr) | |
3 | g.122262039A>G | CA354152065 | CASR | c.1004A>G (p.Lys335Arg) c.521A>G (p.Lys174Arg) c.416A>G (p.Lys139Arg) | |
3 | g.122262039A>T | CA354152068 | CASR | c.1004A>T (p.Lys335Met) c.521A>T (p.Lys174Met) c.416A>T (p.Lys139Met) | |
3 | g.122262040G>A | CA435424979 | CASR | c.1005G>A (p.Lys335=) c.522G>A (p.Lys174=) c.417G>A (p.Lys139=) | |
3 | g.122262040G>C | CA354152071 | CASR | c.1005G>C (p.Lys335Asn) c.522G>C (p.Lys174Asn) c.417G>C (p.Lys139Asn) | |
3 | g.122262040G>T | CA354152073 | CASR | c.1005G>T (p.Lys335Asn) c.522G>T (p.Lys174Asn) c.417G>T (p.Lys139Asn) | |
3 | g.122262041A= | CA1397873293 | CASR | c.1006A= (p.Lys336=) c.523A= (p.Lys175=) c.418A= (p.Lys140=) | |
3 | g.122262041A>C | CA354152075 | CASR | c.1006A>C (p.Lys336Gln) c.523A>C (p.Lys175Gln) c.418A>C (p.Lys140Gln) | |
3 | g.122262041A>G | CA354152078 | CASR | c.1006A>G (p.Lys336Glu) c.523A>G (p.Lys175Glu) c.418A>G (p.Lys140Glu) | dbSNP |
3 | g.122262041A>T | CA354152081 | CASR | c.1006A>T (p.Lys336Ter) c.523A>T (p.Lys175Ter) c.418A>T (p.Lys140Ter) | |
3 | g.122262042A>C | CA354152086 | CASR | c.1007A>C (p.Lys336Thr) c.524A>C (p.Lys175Thr) c.419A>C (p.Lys140Thr) | |
3 | g.122262042A>G | CA354152089 | CASR | c.1007A>G (p.Lys336Arg) c.524A>G (p.Lys175Arg) c.419A>G (p.Lys140Arg) | |
3 | g.122262042A>T | CA354152083 | CASR | c.1007A>T (p.Lys336Met) c.524A>T (p.Lys175Met) c.419A>T (p.Lys140Met) | |
3 | g.122262043G>A | CA435424990 | CASR | c.1008G>A (p.Lys336=) c.525G>A (p.Lys175=) c.420G>A (p.Lys140=) | |
3 | g.122262043G>C | CA2569573 | CASR | c.1008G>C (p.Lys336Asn) c.525G>C (p.Lys175Asn) c.420G>C (p.Lys140Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262043G= | CA1397873295 | CASR | c.1008G= (p.Lys336=) c.525G= (p.Lys175=) c.420G= (p.Lys140=) | |
3 | g.122262043G>T | CA2569572 | CASR | c.1008G>T (p.Lys336Asn) c.525G>T (p.Lys175Asn) c.420G>T (p.Lys140Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262044G>A | CA354152099 | CASR | c.1009G>A (p.Val337Ile) c.526G>A (p.Val176Ile) c.421G>A (p.Val141Ile) | dbSNP |
3 | g.122262044G>C | CA354152100 | CASR | c.1009G>C (p.Val337Leu) c.526G>C (p.Val176Leu) c.421G>C (p.Val141Leu) | |
3 | g.122262044G= | CA1397873299 | CASR | c.1009G= (p.Val337=) c.526G= (p.Val176=) c.421G= (p.Val141=) | |
3 | g.122262044G>T | CA2569574 | CASR | c.1009G>T (p.Val337Phe) c.526G>T (p.Val176Phe) c.421G>T (p.Val141Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262045T>A | CA354152101 | CASR | c.1010T>A (p.Val337Asp) c.527T>A (p.Val176Asp) c.422T>A (p.Val141Asp) | |
3 | g.122262045T>C | CA354152102 | CASR | c.1010T>C (p.Val337Ala) c.527T>C (p.Val176Ala) c.422T>C (p.Val141Ala) | ClinVar dbSNP |
3 | g.122262045T>G | CA354152104 | CASR | c.1010T>G (p.Val337Gly) c.527T>G (p.Val176Gly) c.422T>G (p.Val141Gly) | |
3 | g.122262046C>A | CA435424999 | CASR | c.1011C>A (p.Val337=) c.528C>A (p.Val176=) c.423C>A (p.Val141=) | |
3 | g.122262046C= | CA1397873302 | CASR | c.1011C= (p.Val337=) c.528C= (p.Val176=) c.423C= (p.Val141=) | |
3 | g.122262046C>G | CA2569575 | CASR | c.1011C>G (p.Val337=) c.528C>G (p.Val176=) c.423C>G (p.Val141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262046C>T | CA435425000 | CASR | c.1011C>T (p.Val337=) c.528C>T (p.Val176=) c.423C>T (p.Val141=) | |
3 | g.122262047C>A | CA354152107 | CASR | c.1012C>A (p.His338Asn) c.529C>A (p.His177Asn) c.424C>A (p.His142Asn) | |
3 | g.122262047C= | CA1397873304 | CASR | c.1012C= (p.His338=) c.529C= (p.His177=) c.424C= (p.His142=) | |
3 | g.122262047C>G | CA354152108 | CASR | c.1012C>G (p.His338Asp) c.529C>G (p.His177Asp) c.424C>G (p.His142Asp) | |
3 | g.122262047C>T | CA354152111 | CASR | c.1012C>T (p.His338Tyr) c.529C>T (p.His177Tyr) c.424C>T (p.His142Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262048A= | CA1397873305 | CASR | c.1013A= (p.His338=) c.530A= (p.His177=) c.425A= (p.His142=) | |
3 | g.122262048A>C | CA354152118 | CASR | c.1013A>C (p.His338Pro) c.530A>C (p.His177Pro) c.425A>C (p.His142Pro) | gnomAD v4 |
3 | g.122262048A>G | CA2569576 | CASR | c.1013A>G (p.His338Arg) c.530A>G (p.His177Arg) c.425A>G (p.His142Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262048A>T | CA354152114 | CASR | c.1013A>T (p.His338Leu) c.530A>T (p.His177Leu) c.425A>T (p.His142Leu) | |
3 | g.122262049T>A | CA354152123 | CASR | c.1014T>A (p.His338Gln) c.531T>A (p.His177Gln) c.426T>A (p.His142Gln) | |
3 | g.122262049T>C | CA435425009 | CASR | c.1014T>C (p.His338=) c.531T>C (p.His177=) c.426T>C (p.His142=) | ClinVar dbSNP |
3 | g.122262049T>G | CA354152126 | CASR | c.1014T>G (p.His338Gln) c.531T>G (p.His177Gln) c.426T>G (p.His142Gln) | |
3 | g.122262049T= | CA1397873307 | CASR | c.1014T= (p.His338=) c.531T= (p.His177=) c.426T= (p.His142=) | |
3 | g.122262050C>A | CA354152129 | CASR | c.1015C>A (p.Pro339Thr) c.532C>A (p.Pro178Thr) c.427C>A (p.Pro143Thr) | gnomAD v4 |
3 | g.122262050C>G | CA354152132 | CASR | c.1015C>G (p.Pro339Ala) c.532C>G (p.Pro178Ala) c.427C>G (p.Pro143Ala) | |
3 | g.122262050C>T | CA354152135 | CASR | c.1015C>T (p.Pro339Ser) c.532C>T (p.Pro178Ser) c.427C>T (p.Pro143Ser) | |
3 | g.122262051C>A | CA354152141 | CASR | c.1016C>A (p.Pro339His) c.533C>A (p.Pro178His) c.428C>A (p.Pro143His) | |
3 | g.122262051C= | CA1397873309 | CASR | c.1016C= (p.Pro339=) c.533C= (p.Pro178=) c.428C= (p.Pro143=) | |
3 | g.122262051C>G | CA354152136 | CASR | c.1016C>G (p.Pro339Arg) c.533C>G (p.Pro178Arg) c.428C>G (p.Pro143Arg) | ClinVar |
3 | g.122262051C>T | CA354152138 | CASR | c.1016C>T (p.Pro339Leu) c.533C>T (p.Pro178Leu) c.428C>T (p.Pro143Leu) | ClinVar dbSNP |
3 | g.122262052C>A | CA435425017 | CASR | c.1017C>A (p.Pro339=) c.534C>A (p.Pro178=) c.429C>A (p.Pro143=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262052C= | CA1397873311 | CASR | c.1017C= (p.Pro339=) c.534C= (p.Pro178=) c.429C= (p.Pro143=) | |
3 | g.122262052C>G | CA435425018 | CASR | c.1017C>G (p.Pro339=) c.534C>G (p.Pro178=) c.429C>G (p.Pro143=) | |
3 | g.122262052C>T | CA435425019 | CASR | c.1017C>T (p.Pro339=) c.534C>T (p.Pro178=) c.429C>T (p.Pro143=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262053A= | CA1397873313 | CASR | c.1018A= (p.Arg340=) c.535A= (p.Arg179=) c.430A= (p.Arg144=) | |
3 | g.122262053A>C | CA435425022 | CASR | c.1018A>C (p.Arg340=) c.535A>C (p.Arg179=) c.430A>C (p.Arg144=) | |
3 | g.122262053A>G | CA16611089 | CASR | c.1018A>G (p.Arg340Gly) c.535A>G (p.Arg179Gly) c.430A>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.122262053A>T | CA354152145 | CASR | c.1018A>T (p.Arg340Trp) c.535A>T (p.Arg179Trp) c.430A>T (p.Arg144Trp) | |
3 | g.122262054G>A | CA2569577 | CASR | c.1019G>A (p.Arg340Lys) c.536G>A (p.Arg179Lys) c.431G>A (p.Arg144Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262054G>C | CA354152149 | CASR | c.1019G>C (p.Arg340Thr) c.536G>C (p.Arg179Thr) c.431G>C (p.Arg144Thr) | |
3 | g.122262054G= | CA1397873315 | CASR | c.1019G= (p.Arg340=) c.536G= (p.Arg179=) c.431G= (p.Arg144=) | |
3 | g.122262054G>T | CA82738770 | CASR | c.1019G>T (p.Arg340Met) c.536G>T (p.Arg179Met) c.431G>T (p.Arg144Met) | dbSNP |
3 | g.122262055G>A | CA2569578 | CASR | c.1020G>A (p.Arg340=) c.537G>A (p.Arg179=) c.432G>A (p.Arg144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122262055G>C | CA354152158 | CASR | c.1020G>C (p.Arg340Ser) c.537G>C (p.Arg179Ser) c.432G>C (p.Arg144Ser) | |
3 | g.122262055G= | CA1397873317 | CASR | c.1020G= (p.Arg340=) c.537G= (p.Arg179=) c.432G= (p.Arg144=) | |
3 | g.122262055G>T | CA354152155 | CASR | c.1020G>T (p.Arg340Ser) c.537G>T (p.Arg179Ser) c.432G>T (p.Arg144Ser) | COSMIC |
3 | g.122262056A>C | CA354152169 | CASR | c.1021A>C (p.Lys341Gln) c.538A>C (p.Lys180Gln) c.433A>C (p.Lys145Gln) | |
3 | g.122262056A>G | CA354152174 | CASR | c.1021A>G (p.Lys341Glu) c.538A>G (p.Lys180Glu) c.433A>G (p.Lys145Glu) | |
3 | g.122262056A>T | CA354152171 | CASR | c.1021A>T (p.Lys341Ter) c.538A>T (p.Lys180Ter) c.433A>T (p.Lys145Ter) | |
3 | g.122262057A= | CA1397873319 | CASR | c.1022A= (p.Lys341=) c.539A= (p.Lys180=) c.434A= (p.Lys145=) | |
3 | g.122262057A>C | CA354152178 | CASR | c.1022A>C (p.Lys341Thr) c.539A>C (p.Lys180Thr) c.434A>C (p.Lys145Thr) | |
3 | g.122262057A>G | CA354152181 | CASR | c.1022A>G (p.Lys341Arg) c.539A>G (p.Lys180Arg) c.434A>G (p.Lys145Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262057A>T | CA354152184 | CASR | c.1022A>T (p.Lys341Met) c.539A>T (p.Lys180Met) c.434A>T (p.Lys145Met) | gnomAD v4 |
3 | g.122262058G>A | CA435425028 | CASR | c.1023G>A (p.Lys341=) c.540G>A (p.Lys180=) c.435G>A (p.Lys145=) | |
3 | g.122262058G>C | CA354152187 | CASR | c.1023G>C (p.Lys341Asn) c.540G>C (p.Lys180Asn) c.435G>C (p.Lys145Asn) | |
3 | g.122262058G= | CA1397873321 | CASR | c.1023G= (p.Lys341=) c.540G= (p.Lys180=) c.435G= (p.Lys145=) | |
3 | g.122262058G>T | CA82738777 | CASR | c.1023G>T (p.Lys341Asn) c.540G>T (p.Lys180Asn) c.435G>T (p.Lys145Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262059T>A | CA354152193 | CASR | c.1024T>A (p.Ser342Thr) c.541T>A (p.Ser181Thr) c.436T>A (p.Ser146Thr) | |
3 | g.122262059T>C | CA354152195 | CASR | c.1024T>C (p.Ser342Pro) c.541T>C (p.Ser181Pro) c.436T>C (p.Ser146Pro) | ClinVar dbSNP |
3 | g.122262059T>G | CA354152197 | CASR | c.1024T>G (p.Ser342Ala) c.541T>G (p.Ser181Ala) c.436T>G (p.Ser146Ala) | |
3 | g.122262059T= | CA1397873323 | CASR | c.1024T= (p.Ser342=) c.541T= (p.Ser181=) c.436T= (p.Ser146=) | |
3 | g.122262060C>A | CA354152200 | CASR | c.1025C>A (p.Ser342Tyr) c.542C>A (p.Ser181Tyr) c.437C>A (p.Ser146Tyr) | |
3 | g.122262060C>G | CA354152203 | CASR | c.1025C>G (p.Ser342Cys) c.542C>G (p.Ser181Cys) c.437C>G (p.Ser146Cys) | |
3 | g.122262060C>T | CA354152205 | CASR | c.1025C>T (p.Ser342Phe) c.542C>T (p.Ser181Phe) c.437C>T (p.Ser146Phe) | COSMIC |
3 | g.122262061T>A | CA435425035 | CASR | c.1026T>A (p.Ser342=) c.543T>A (p.Ser181=) c.438T>A (p.Ser146=) | |
3 | g.122262061T>C | CA2569579 | CASR | c.1026T>C (p.Ser342=) c.543T>C (p.Ser181=) c.438T>C (p.Ser146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262061T>G | CA435425037 | CASR | c.1026T>G (p.Ser342=) c.543T>G (p.Ser181=) c.438T>G (p.Ser146=) | gnomAD v4 |
3 | g.122262061T= | CA1397873326 | CASR | c.1026T= (p.Ser342=) c.543T= (p.Ser181=) c.438T= (p.Ser146=) | |
3 | g.122262062G>A | CA2569580 | CASR | c.1027G>A (p.Val343Ile) c.544G>A (p.Val182Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262062G>C | CA354152210 | CASR | c.1027G>C (p.Val343Leu) c.544G>C (p.Val182Leu) c.439G>C (p.Val147Leu) | |
3 | g.122262062G= | CA1397873327 | CASR | c.1027G= (p.Val343=) c.544G= (p.Val182=) c.439G= (p.Val147=) | |
3 | g.122262062G>T | CA354152212 | CASR | c.1027G>T (p.Val343Phe) c.544G>T (p.Val182Phe) c.439G>T (p.Val147Phe) | |
3 | g.122262063T>A | CA354152216 | CASR | c.1028T>A (p.Val343Asp) c.545T>A (p.Val182Asp) c.440T>A (p.Val147Asp) | |
3 | g.122262063T>C | CA2569581 | CASR | c.1028T>C (p.Val343Ala) c.545T>C (p.Val182Ala) c.440T>C (p.Val147Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262063T>G | CA354152220 | CASR | c.1028T>G (p.Val343Gly) c.545T>G (p.Val182Gly) c.440T>G (p.Val147Gly) | |
3 | g.122262063T= | CA1397873329 | CASR | c.1028T= (p.Val343=) c.545T= (p.Val182=) c.440T= (p.Val147=) | |
3 | g.122262064C>A | CA435425042 | CASR | c.1029C>A (p.Val343=) c.546C>A (p.Val182=) c.441C>A (p.Val147=) | ClinVar gnomAD v4 |
3 | g.122262064C>G | CA435425045 | CASR | c.1029C>G (p.Val343=) c.546C>G (p.Val182=) c.441C>G (p.Val147=) | |
3 | g.122262064C>T | CA435425046 | CASR | c.1029C>T (p.Val343=) c.546C>T (p.Val182=) c.441C>T (p.Val147=) | |
3 | g.122262065C>A | CA354152225 | CASR | c.1030C>A (p.His344Asn) c.547C>A (p.His183Asn) c.442C>A (p.His148Asn) | |
3 | g.122262065C>G | CA354152228 | CASR | c.1030C>G (p.His344Asp) c.547C>G (p.His183Asp) c.442C>G (p.His148Asp) | |
3 | g.122262065C>T | CA354152230 | CASR | c.1030C>T (p.His344Tyr) c.547C>T (p.His183Tyr) c.442C>T (p.His148Tyr) | |
3 | g.122262065_122262068delinsCACA | CA1397873331 | CASR | c.1030_1033delinsCACA (p.His344=) c.547_550delinsCACA (p.His183=) c.442_445delinsCACA (p.His148=) | |
3 | g.122262066A>C | CA354152234 | CASR | c.1031A>C (p.His344Pro) c.548A>C (p.His183Pro) c.443A>C (p.His148Pro) | |
3 | g.122262066A>G | CA354152237 | CASR | c.1031A>G (p.His344Arg) c.548A>G (p.His183Arg) c.443A>G (p.His148Arg) | |
3 | g.122262066A>T | CA354152239 | CASR | c.1031A>T (p.His344Leu) c.548A>T (p.His183Leu) c.443A>T (p.His148Leu) | COSMIC |
3 | g.122262066_122262069delinsT | CA2586972807 | CASR | c.1031_1034delinsT (p.His344_Asn345delinsLeu) c.548_551delinsT (p.His183_Asn184delinsLeu) c.443_446delinsT (p.His148_Asn149delinsLeu) | |
3 | g.122262067_122262069del | CA1397873332 | CASR | c.1032_1034del (p.Asn345del) c.549_551del (p.Asn184del) c.444_446del (p.Asn149del) | dbSNP |
3 | g.122262067C>A | CA354152241 | CASR | c.1032C>A (p.His344Gln) c.549C>A (p.His183Gln) c.444C>A (p.His148Gln) | |
3 | g.122262067C>G | CA354152243 | CASR | c.1032C>G (p.His344Gln) c.549C>G (p.His183Gln) c.444C>G (p.His148Gln) | |
3 | g.122262067C>T | CA435425052 | CASR | c.1032C>T (p.His344=) c.549C>T (p.His183=) c.444C>T (p.His148=) | ClinVar dbSNP |
3 | g.122262068A= | CA1397873333 | CASR | c.1033A= (p.Asn345=) c.550A= (p.Asn184=) c.445A= (p.Asn149=) | |
3 | g.122262068A>C | CA354152249 | CASR | c.1033A>C (p.Asn345His) c.550A>C (p.Asn184His) c.445A>C (p.Asn149His) | |
3 | g.122262068A>G | CA2569582 | CASR | c.1033A>G (p.Asn345Asp) c.550A>G (p.Asn184Asp) c.445A>G (p.Asn149Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262068A>T | CA354152245 | CASR | c.1033A>T (p.Asn345Tyr) c.550A>T (p.Asn184Tyr) c.445A>T (p.Asn149Tyr) | |
3 | g.122262069A= | CA1397873335 | CASR | c.1034A= (p.Asn345=) c.551A= (p.Asn184=) c.446A= (p.Asn149=) | |
3 | g.122262069A>C | CA354152257 | CASR | c.1034A>C (p.Asn345Thr) c.551A>C (p.Asn184Thr) c.446A>C (p.Asn149Thr) | |
3 | g.122262069A>G | CA354152254 | CASR | c.1034A>G (p.Asn345Ser) c.551A>G (p.Asn184Ser) c.446A>G (p.Asn149Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262069A>T | CA354152256 | CASR | c.1034A>T (p.Asn345Ile) c.551A>T (p.Asn184Ile) c.446A>T (p.Asn149Ile) | ClinVar dbSNP |
3 | g.122262070T>A | CA354152260 | CASR | c.1035T>A (p.Asn345Lys) c.552T>A (p.Asn184Lys) c.447T>A (p.Asn149Lys) | |
3 | g.122262070T>C | CA435425060 | CASR | c.1035T>C (p.Asn345=) c.552T>C (p.Asn184=) c.447T>C (p.Asn149=) | |
3 | g.122262070T>G | CA2569583 | CASR | c.1035T>G (p.Asn345Lys) c.552T>G (p.Asn184Lys) c.447T>G (p.Asn149Lys) | dbSNP ExAC |
3 | g.122262070T= | CA1397873337 | CASR | c.1035T= (p.Asn345=) c.552T= (p.Asn184=) c.447T= (p.Asn149=) | |
3 | g.122262071G>A | CA354152273 | CASR | c.1036G>A (p.Gly346Ser) c.553G>A (p.Gly185Ser) c.448G>A (p.Gly150Ser) | |
3 | g.122262071G>C | CA354152275 | CASR | c.1036G>C (p.Gly346Arg) c.553G>C (p.Gly185Arg) c.448G>C (p.Gly150Arg) | ClinVar gnomAD v4 |
3 | g.122262071G>T | CA354152277 | CASR | c.1036G>T (p.Gly346Cys) c.553G>T (p.Gly185Cys) c.448G>T (p.Gly150Cys) | gnomAD v4 |
3 | g.122262072G>A | CA354152281 | CASR | c.1037G>A (p.Gly346Asp) c.554G>A (p.Gly185Asp) c.449G>A (p.Gly150Asp) | ClinVar dbSNP |
3 | g.122262072G>C | CA354152284 | CASR | c.1037G>C (p.Gly346Ala) c.554G>C (p.Gly185Ala) c.449G>C (p.Gly150Ala) | |
3 | g.122262072G>T | CA354152286 | CASR | c.1037G>T (p.Gly346Val) c.554G>T (p.Gly185Val) c.449G>T (p.Gly150Val) | |
3 | g.122262073T>A | CA435425063 | CASR | c.1038T>A (p.Gly346=) c.555T>A (p.Gly185=) c.450T>A (p.Gly150=) | |
3 | g.122262073T>C | CA435425067 | CASR | c.1038T>C (p.Gly346=) c.555T>C (p.Gly185=) c.450T>C (p.Gly150=) | |
3 | g.122262073T>G | CA435425065 | CASR | c.1038T>G (p.Gly346=) c.555T>G (p.Gly185=) c.450T>G (p.Gly150=) | |
3 | g.122262074T>A | CA354152290 | CASR | c.1039T>A (p.Phe347Ile) c.556T>A (p.Phe186Ile) c.451T>A (p.Phe151Ile) | |
3 | g.122262074T>C | CA354152292 | CASR | c.1039T>C (p.Phe347Leu) c.556T>C (p.Phe186Leu) c.451T>C (p.Phe151Leu) | |
3 | g.122262074T>G | CA354152294 | CASR | c.1039T>G (p.Phe347Val) c.556T>G (p.Phe186Val) c.451T>G (p.Phe151Val) | |
3 | g.122262075T>A | CA354152309 | CASR | c.1040T>A (p.Phe347Tyr) c.557T>A (p.Phe186Tyr) c.452T>A (p.Phe151Tyr) | |
3 | g.122262075T>C | CA354152298 | CASR | c.1040T>C (p.Phe347Ser) c.557T>C (p.Phe186Ser) c.452T>C (p.Phe151Ser) | |
3 | g.122262075T>G | CA354152306 | CASR | c.1040T>G (p.Phe347Cys) c.557T>G (p.Phe186Cys) c.452T>G (p.Phe151Cys) | |
3 | g.122262076T>A | CA354152313 | CASR | c.1041T>A (p.Phe347Leu) c.558T>A (p.Phe186Leu) c.453T>A (p.Phe151Leu) | |
3 | g.122262076T>C | CA435425072 | CASR | c.1041T>C (p.Phe347=) c.558T>C (p.Phe186=) c.453T>C (p.Phe151=) | dbSNP |
3 | g.122262076T>G | CA354152315 | CASR | c.1041T>G (p.Phe347Leu) c.558T>G (p.Phe186Leu) c.453T>G (p.Phe151Leu) | |
3 | g.122262077G>A | CA354152319 | CASR | c.1042G>A (p.Ala348Thr) c.559G>A (p.Ala187Thr) c.454G>A (p.Ala152Thr) | |
3 | g.122262077G>C | CA354152321 | CASR | c.1042G>C (p.Ala348Pro) c.559G>C (p.Ala187Pro) c.454G>C (p.Ala152Pro) | |
3 | g.122262077G>T | CA354152323 | CASR | c.1042G>T (p.Ala348Ser) c.559G>T (p.Ala187Ser) c.454G>T (p.Ala152Ser) | |
3 | g.122262078C>A | CA354152325 | CASR | c.1043C>A (p.Ala348Asp) c.560C>A (p.Ala187Asp) c.455C>A (p.Ala152Asp) | gnomAD v4 |
3 | g.122262078C= | CA1397873338 | CASR | c.1043C= (p.Ala348=) c.560C= (p.Ala187=) c.455C= (p.Ala152=) | |
3 | g.122262078C>G | CA354152331 | CASR | c.1043C>G (p.Ala348Gly) c.560C>G (p.Ala187Gly) c.455C>G (p.Ala152Gly) | |
3 | g.122262078C>T | CA354152335 | CASR | c.1043C>T (p.Ala348Val) c.560C>T (p.Ala187Val) c.455C>T (p.Ala152Val) | ClinVar dbSNP |
3 | g.122262078_122262079delinsAA | CA2573136451 | CASR | c.1043_1044delinsAA (p.Ala348Glu) c.560_561delinsAA (p.Ala187Glu) c.455_456delinsAA (p.Ala152Glu) | ClinVar dbSNP |
3 | g.122262079C>A | CA2569584 | CASR | c.1044C>A (p.Ala348=) c.561C>A (p.Ala187=) c.456C>A (p.Ala152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262079C= | CA1397873340 | CASR | c.1044C= (p.Ala348=) c.561C= (p.Ala187=) c.456C= (p.Ala152=) | |
3 | g.122262079C>G | CA435425077 | CASR | c.1044C>G (p.Ala348=) c.561C>G (p.Ala187=) c.456C>G (p.Ala152=) | |
3 | g.122262079C>T | CA435425079 | CASR | c.1044C>T (p.Ala348=) c.561C>T (p.Ala187=) c.456C>T (p.Ala152=) | ClinVar gnomAD v4 |
3 | g.122262080A= | CA1397873346 | CASR | c.1045A= (p.Lys349=) c.562A= (p.Lys188=) c.457A= (p.Lys153=) | |
3 | g.122262080A>C | CA354152341 | CASR | c.1045A>C (p.Lys349Gln) c.562A>C (p.Lys188Gln) c.457A>C (p.Lys153Gln) | |
3 | g.122262080A>G | CA354152344 | CASR | c.1045A>G (p.Lys349Glu) c.562A>G (p.Lys188Glu) c.457A>G (p.Lys153Glu) | ClinVar dbSNP |
3 | g.122262080A>T | CA354152346 | CASR | c.1045A>T (p.Lys349Ter) c.562A>T (p.Lys188Ter) c.457A>T (p.Lys153Ter) | |
3 | g.122262081A>C | CA354152354 | CASR | c.1046A>C (p.Lys349Thr) c.563A>C (p.Lys188Thr) c.458A>C (p.Lys153Thr) | |
3 | g.122262081A>G | CA354152357 | CASR | c.1046A>G (p.Lys349Arg) c.563A>G (p.Lys188Arg) c.458A>G (p.Lys153Arg) | |
3 | g.122262081A>T | CA354152352 | CASR | c.1046A>T (p.Lys349Met) c.563A>T (p.Lys188Met) c.458A>T (p.Lys153Met) | |
3 | g.122262083_122262085del | CA2667224937 | CASR | c.1048_1050del (p.Glu350del) c.565_567del (p.Glu189del) c.460_462del (p.Glu154del) | gnomAD v4 |
3 | g.122262082G>A | CA435425089 | CASR | c.1047G>A (p.Lys349=) c.564G>A (p.Lys188=) c.459G>A (p.Lys153=) | gnomAD v4 |
3 | g.122262082G>C | CA354152359 | CASR | c.1047G>C (p.Lys349Asn) c.564G>C (p.Lys188Asn) c.459G>C (p.Lys153Asn) | |
3 | g.122262082G>T | CA354152362 | CASR | c.1047G>T (p.Lys349Asn) c.564G>T (p.Lys188Asn) c.459G>T (p.Lys153Asn) | |
3 | g.122262083G>A | CA354152366 | CASR | c.1048G>A (p.Glu350Lys) c.565G>A (p.Glu189Lys) c.460G>A (p.Glu154Lys) | gnomAD v4 COSMIC |
3 | g.122262083G>C | CA354152369 | CASR | c.1048G>C (p.Glu350Gln) c.565G>C (p.Glu189Gln) c.460G>C (p.Glu154Gln) | gnomAD v4 |
3 | g.122262083G>T | CA354152371 | CASR | c.1048G>T (p.Glu350Ter) c.565G>T (p.Glu189Ter) c.460G>T (p.Glu154Ter) | ClinVar |
3 | g.122262084A>C | CA354152373 | CASR | c.1049A>C (p.Glu350Ala) c.566A>C (p.Glu189Ala) c.461A>C (p.Glu154Ala) | |
3 | g.122262084A>G | CA354152376 | CASR | c.1049A>G (p.Glu350Gly) c.566A>G (p.Glu189Gly) c.461A>G (p.Glu154Gly) | |
3 | g.122262084A>T | CA354152379 | CASR | c.1049A>T (p.Glu350Val) c.566A>T (p.Glu189Val) c.461A>T (p.Glu154Val) | COSMIC |
3 | g.122262085G>A | CA2569585 | CASR | c.1050G>A (p.Glu350=) c.567G>A (p.Glu189=) c.462G>A (p.Glu154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262085G>C | CA354152384 | CASR | c.1050G>C (p.Glu350Asp) c.567G>C (p.Glu189Asp) c.462G>C (p.Glu154Asp) | |
3 | g.122262085G= | CA1397873348 | CASR | c.1050G= (p.Glu350=) c.567G= (p.Glu189=) c.462G= (p.Glu154=) | |
3 | g.122262085G>T | CA354152387 | CASR | c.1050G>T (p.Glu350Asp) c.567G>T (p.Glu189Asp) c.462G>T (p.Glu154Asp) | |
3 | g.122262086T>A | CA354152390 | CASR | c.1051T>A (p.Phe351Ile) c.568T>A (p.Phe190Ile) c.463T>A (p.Phe155Ile) | |
3 | g.122262086T>C | CA354152393 | CASR | c.1051T>C (p.Phe351Leu) c.568T>C (p.Phe190Leu) c.463T>C (p.Phe155Leu) | |
3 | g.122262086T>G | CA354152396 | CASR | c.1051T>G (p.Phe351Val) c.568T>G (p.Phe190Val) c.463T>G (p.Phe155Val) | |
3 | g.122262089dup | CA645532162 | CASR | c.1054dup (p.Trp352LeufsTer6) c.571dup (p.Trp191LeufsTer6) c.466dup (p.Trp156LeufsTer6) | COSMIC |
3 | g.122262089del | CA2499216411 | CASR | c.1054del (p.Trp352GlyfsTer23) c.571del (p.Trp191GlyfsTer23) c.466del (p.Trp156GlyfsTer23) | ClinVar dbSNP |
3 | g.122262087T>A | CA354152405 | CASR | c.1052T>A (p.Phe351Tyr) c.569T>A (p.Phe190Tyr) c.464T>A (p.Phe155Tyr) | |
3 | g.122262087T>C | CA354152398 | CASR | c.1052T>C (p.Phe351Ser) c.569T>C (p.Phe190Ser) c.464T>C (p.Phe155Ser) | |
3 | g.122262087T>G | CA354152403 | CASR | c.1052T>G (p.Phe351Cys) c.569T>G (p.Phe190Cys) c.464T>G (p.Phe155Cys) | |
3 | g.122262088T>A | CA354152407 | CASR | c.1053T>A (p.Phe351Leu) c.570T>A (p.Phe190Leu) c.465T>A (p.Phe155Leu) | |
3 | g.122262088T>C | CA435425110 | CASR | c.1053T>C (p.Phe351=) c.570T>C (p.Phe190=) c.465T>C (p.Phe155=) | |
3 | g.122262088T>G | CA354152410 | CASR | c.1053T>G (p.Phe351Leu) c.570T>G (p.Phe190Leu) c.465T>G (p.Phe155Leu) | |
3 | g.122262089T>A | CA354152412 | CASR | c.1054T>A (p.Trp352Arg) c.571T>A (p.Trp191Arg) c.466T>A (p.Trp156Arg) | |
3 | g.122262089T>C | CA354152415 | CASR | c.1054T>C (p.Trp352Arg) c.571T>C (p.Trp191Arg) c.466T>C (p.Trp156Arg) | ClinVar dbSNP |
3 | g.122262089T>G | CA354152417 | CASR | c.1054T>G (p.Trp352Gly) c.571T>G (p.Trp191Gly) c.466T>G (p.Trp156Gly) | ClinVar |
3 | g.122262090G>A | CA354152419 | CASR | c.1055G>A (p.Trp352Ter) c.572G>A (p.Trp191Ter) c.467G>A (p.Trp156Ter) | |
3 | g.122262090G>C | CA354152422 | CASR | c.1055G>C (p.Trp352Ser) c.572G>C (p.Trp191Ser) c.467G>C (p.Trp156Ser) | |
3 | g.122262090G>T | CA354152425 | CASR | c.1055G>T (p.Trp352Leu) c.572G>T (p.Trp191Leu) c.467G>T (p.Trp156Leu) | |
3 | g.122262091G>A | CA354152428 | CASR | c.1056G>A (p.Trp352Ter) c.573G>A (p.Trp191Ter) c.468G>A (p.Trp156Ter) | ClinVar dbSNP |
3 | g.122262091G>C | CA354152431 | CASR | c.1056G>C (p.Trp352Cys) c.573G>C (p.Trp191Cys) c.468G>C (p.Trp156Cys) | |
3 | g.122262091G>T | CA354152433 | CASR | c.1056G>T (p.Trp352Cys) c.573G>T (p.Trp191Cys) c.468G>T (p.Trp156Cys) | |
3 | g.122262092G>A | CA354152439 | CASR | c.1057G>A (p.Glu353Lys) c.574G>A (p.Glu192Lys) c.469G>A (p.Glu157Lys) | COSMIC |
3 | g.122262092G>C | CA354152436 | CASR | c.1057G>C (p.Glu353Gln) c.574G>C (p.Glu192Gln) c.469G>C (p.Glu157Gln) | |
3 | g.122262092G>T | CA354152435 | CASR | c.1057G>T (p.Glu353Ter) c.574G>T (p.Glu192Ter) c.469G>T (p.Glu157Ter) | |
3 | g.122262093A= | CA1397873351 | CASR | c.1058A= (p.Glu353=) c.575A= (p.Glu192=) c.470A= (p.Glu157=) | |
3 | g.122262093A>C | CA213557 | CASR | c.1058A>C (p.Glu353Ala) c.575A>C (p.Glu192Ala) c.470A>C (p.Glu157Ala) | ClinVar dbSNP |
3 | g.122262093A>G | CA354152443 | CASR | c.1058A>G (p.Glu353Gly) c.575A>G (p.Glu192Gly) c.470A>G (p.Glu157Gly) | ClinVar |
3 | g.122262093A>T | CA354152445 | CASR | c.1058A>T (p.Glu353Val) c.575A>T (p.Glu192Val) c.470A>T (p.Glu157Val) | |
3 | g.122262094A>C | CA354152447 | CASR | c.1059A>C (p.Glu353Asp) c.576A>C (p.Glu192Asp) c.471A>C (p.Glu157Asp) | |
3 | g.122262094A>G | CA435425123 | CASR | c.1059A>G (p.Glu353=) c.576A>G (p.Glu192=) c.471A>G (p.Glu157=) | |
3 | g.122262094A>T | CA354152450 | CASR | c.1059A>T (p.Glu353Asp) c.576A>T (p.Glu192Asp) c.471A>T (p.Glu157Asp) | |
3 | g.122262095G>A | CA354152451 | CASR | c.1060G>A (p.Glu354Lys) c.577G>A (p.Glu193Lys) c.472G>A (p.Glu158Lys) | |
3 | g.122262095G>C | CA354152454 | CASR | c.1060G>C (p.Glu354Gln) c.577G>C (p.Glu193Gln) c.472G>C (p.Glu158Gln) | |
3 | g.122262095G>T | CA354152457 | CASR | c.1060G>T (p.Glu354Ter) c.577G>T (p.Glu193Ter) c.472G>T (p.Glu158Ter) | |
3 | g.122262096A>C | CA354152460 | CASR | c.1061A>C (p.Glu354Ala) c.578A>C (p.Glu193Ala) c.473A>C (p.Glu158Ala) | |
3 | g.122262096A>G | CA354152461 | CASR | c.1061A>G (p.Glu354Gly) c.578A>G (p.Glu193Gly) c.473A>G (p.Glu158Gly) | |
3 | g.122262096A>T | CA354152464 | CASR | c.1061A>T (p.Glu354Val) c.578A>T (p.Glu193Val) c.473A>T (p.Glu158Val) |