| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99891236G>A | CA966916 | AGL | c.2829G>A (p.Leu943=) n.3040G>A c.2781G>A (p.Leu927=) c.2778G>A (p.Leu926=) c.1089G>A (p.Leu363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891236G>C | CA341324880 | AGL | c.2829G>C (p.Leu943Phe) n.3040G>C c.2781G>C (p.Leu927Phe) c.2778G>C (p.Leu926Phe) c.1089G>C (p.Leu363Phe) | |
| 1 | g.99891236G= | CA1148445020 | AGL | c.2829G= (p.Leu943=) n.3040G= c.2781G= (p.Leu927=) c.2778G= (p.Leu926=) c.1089G= (p.Leu363=) | |
| 1 | g.99891236G>T | CA341324876 | AGL | c.2829G>T (p.Leu943Phe) n.3040G>T c.2781G>T (p.Leu927Phe) c.2778G>T (p.Leu926Phe) c.1089G>T (p.Leu363Phe) | |
| 1 | g.99891237G>A | CA341324888 | AGL | c.2830G>A (p.Ala944Thr) n.3041G>A c.2782G>A (p.Ala928Thr) c.2779G>A (p.Ala927Thr) c.1090G>A (p.Ala364Thr) | |
| 1 | g.99891237G>C | CA341324883 | AGL | c.2830G>C (p.Ala944Pro) n.3041G>C c.2782G>C (p.Ala928Pro) c.2779G>C (p.Ala927Pro) c.1090G>C (p.Ala364Pro) | |
| 1 | g.99891237G>T | CA341324886 | AGL | c.2830G>T (p.Ala944Ser) n.3041G>T c.2782G>T (p.Ala928Ser) c.2779G>T (p.Ala927Ser) c.1090G>T (p.Ala364Ser) | |
| 1 | g.99891238C>A | CA341324896 | AGL | c.2831C>A (p.Ala944Glu) n.3042C>A c.2783C>A (p.Ala928Glu) c.2780C>A (p.Ala927Glu) c.1091C>A (p.Ala364Glu) | |
| 1 | g.99891238C>G | CA341324898 | AGL | c.2831C>G (p.Ala944Gly) n.3042C>G c.2783C>G (p.Ala928Gly) c.2780C>G (p.Ala927Gly) c.1091C>G (p.Ala364Gly) | |
| 1 | g.99891238C>T | CA341324901 | AGL | c.2831C>T (p.Ala944Val) n.3042C>T c.2783C>T (p.Ala928Val) c.2780C>T (p.Ala927Val) c.1091C>T (p.Ala364Val) | gnomAD v4 |
| 1 | g.99891239A= | CA1183933217 | AGL | c.2832A= (p.Ala944=) n.3043A= c.2784A= (p.Ala928=) c.2781A= (p.Ala927=) c.1092A= (p.Ala364=) | |
| 1 | g.99891239A>C | CA419314444 | AGL | c.2832A>C (p.Ala944=) n.3043A>C c.2784A>C (p.Ala928=) c.2781A>C (p.Ala927=) c.1092A>C (p.Ala364=) | |
| 1 | g.99891239A>G | CA419314445 | AGL | c.2832A>G (p.Ala944=) n.3043A>G c.2784A>G (p.Ala928=) c.2781A>G (p.Ala927=) c.1092A>G (p.Ala364=) | |
| 1 | g.99891239A>T | CA419314446 | AGL | c.2832A>T (p.Ala944=) n.3043A>T c.2784A>T (p.Ala928=) c.2781A>T (p.Ala927=) c.1092A>T (p.Ala364=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99891240G>A | CA341324904 | AGL | c.2833G>A (p.Glu945Lys) n.3044G>A c.2785G>A (p.Glu929Lys) c.2782G>A (p.Glu928Lys) c.1093G>A (p.Glu365Lys) | gnomAD v4 |
| 1 | g.99891240G>C | CA341324907 | AGL | c.2833G>C (p.Glu945Gln) n.3044G>C c.2785G>C (p.Glu929Gln) c.2782G>C (p.Glu928Gln) c.1093G>C (p.Glu365Gln) | |
| 1 | g.99891240G>T | CA341324909 | AGL | c.2833G>T (p.Glu945Ter) n.3044G>T c.2785G>T (p.Glu929Ter) c.2782G>T (p.Glu928Ter) c.1093G>T (p.Glu365Ter) | |
| 1 | g.99891241A>C | CA341324912 | AGL | c.2834A>C (p.Glu945Ala) n.3045A>C c.2786A>C (p.Glu929Ala) c.2783A>C (p.Glu928Ala) c.1094A>C (p.Glu365Ala) | |
| 1 | g.99891241A>G | CA341324914 | AGL | c.2834A>G (p.Glu945Gly) n.3045A>G c.2786A>G (p.Glu929Gly) c.2783A>G (p.Glu928Gly) c.1094A>G (p.Glu365Gly) | |
| 1 | g.99891241A>T | CA341324916 | AGL | c.2834A>T (p.Glu945Val) n.3045A>T c.2786A>T (p.Glu929Val) c.2783A>T (p.Glu928Val) c.1094A>T (p.Glu365Val) | |
| 1 | g.99891242A= | CA1183933218 | AGL | c.2835A= (p.Glu945=) n.3046A= c.2787A= (p.Glu929=) c.2784A= (p.Glu928=) c.1095A= (p.Glu365=) | |
| 1 | g.99891242A>C | CA341324918 | AGL | c.2835A>C (p.Glu945Asp) n.3046A>C c.2787A>C (p.Glu929Asp) c.2784A>C (p.Glu928Asp) c.1095A>C (p.Glu365Asp) | |
| 1 | g.99891242A>G | CA419314447 | AGL | c.2835A>G (p.Glu945=) n.3046A>G c.2787A>G (p.Glu929=) c.2784A>G (p.Glu928=) c.1095A>G (p.Glu365=) | ClinVar dbSNP |
| 1 | g.99891242A>T | CA966917 | AGL | c.2835A>T (p.Glu945Asp) n.3046A>T c.2787A>T (p.Glu929Asp) c.2784A>T (p.Glu928Asp) c.1095A>T (p.Glu365Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.99891243A= | CA1144022277 | AGL | c.2836A= (p.Ile946=) n.3047A= c.2788A= (p.Ile930=) c.2785A= (p.Ile929=) c.1096A= (p.Ile366=) | |
| 1 | g.99891243A>C | CA341324927 | AGL | c.2836A>C (p.Ile946Leu) n.3047A>C c.2788A>C (p.Ile930Leu) c.2785A>C (p.Ile929Leu) c.1096A>C (p.Ile366Leu) | |
| 1 | g.99891243A>G | CA27526284 | AGL | c.2836A>G (p.Ile946Val) n.3047A>G c.2788A>G (p.Ile930Val) c.2785A>G (p.Ile929Val) c.1096A>G (p.Ile366Val) | dbSNP gnomAD v4 |
| 1 | g.99891243A>T | CA341324922 | AGL | c.2836A>T (p.Ile946Leu) n.3047A>T c.2788A>T (p.Ile930Leu) c.2785A>T (p.Ile929Leu) c.1096A>T (p.Ile366Leu) | |
| 1 | g.99891244T>A | CA341324928 | AGL | c.2837T>A (p.Ile946Lys) n.3048T>A c.2789T>A (p.Ile930Lys) c.2786T>A (p.Ile929Lys) c.1097T>A (p.Ile366Lys) | |
| 1 | g.99891244T>C | CA341324930 | AGL | c.2837T>C (p.Ile946Thr) n.3048T>C c.2789T>C (p.Ile930Thr) c.2786T>C (p.Ile929Thr) c.1097T>C (p.Ile366Thr) | |
| 1 | g.99891244T>G | CA341324933 | AGL | c.2837T>G (p.Ile946Arg) n.3048T>G c.2789T>G (p.Ile930Arg) c.2786T>G (p.Ile929Arg) c.1097T>G (p.Ile366Arg) | dbSNP |
| 1 | g.99891244T= | CA1183933219 | AGL | c.2837T= (p.Ile946=) n.3048T= c.2789T= (p.Ile930=) c.2786T= (p.Ile929=) c.1097T= (p.Ile366=) | |
| 1 | g.99891245A= | CA1183933220 | AGL | c.2838A= (p.Ile946=) n.3049A= c.2790A= (p.Ile930=) c.2787A= (p.Ile929=) c.1098A= (p.Ile366=) | |
| 1 | g.99891245A>C | CA419314448 | AGL | c.2838A>C (p.Ile946=) n.3049A>C c.2790A>C (p.Ile930=) c.2787A>C (p.Ile929=) c.1098A>C (p.Ile366=) | |
| 1 | g.99891245A>G | CA966918 | AGL | c.2838A>G (p.Ile946Met) n.3049A>G c.2790A>G (p.Ile930Met) c.2787A>G (p.Ile929Met) c.1098A>G (p.Ile366Met) | dbSNP ExAC gnomAD v2 |
| 1 | g.99891245A>T | CA419314449 | AGL | c.2838A>T (p.Ile946=) n.3049A>T c.2790A>T (p.Ile930=) c.2787A>T (p.Ile929=) c.1098A>T (p.Ile366=) | |
| 1 | g.99891246A>C | CA419314450 | AGL | c.2839A>C (p.Arg947=) n.3050A>C c.2791A>C (p.Arg931=) c.2788A>C (p.Arg930=) c.1099A>C (p.Arg367=) | gnomAD v4 |
| 1 | g.99891246A>G | CA341324940 | AGL | c.2839A>G (p.Arg947Gly) n.3050A>G c.2791A>G (p.Arg931Gly) c.2788A>G (p.Arg930Gly) c.1099A>G (p.Arg367Gly) | |
| 1 | g.99891246A>T | CA341324941 | AGL | c.2839A>T (p.Arg947Ter) n.3050A>T c.2791A>T (p.Arg931Ter) c.2788A>T (p.Arg930Ter) c.1099A>T (p.Arg367Ter) | |
| 1 | g.99891247G>A | CA341324944 | AGL | c.2840G>A (p.Arg947Lys) n.3051G>A c.2792G>A (p.Arg931Lys) c.2789G>A (p.Arg930Lys) c.1100G>A (p.Arg367Lys) | ClinVar |
| 1 | g.99891247G>C | CA341324945 | AGL | c.2840G>C (p.Arg947Thr) n.3051G>C c.2792G>C (p.Arg931Thr) c.2789G>C (p.Arg930Thr) c.1100G>C (p.Arg367Thr) | dbSNP |
| 1 | g.99891247G>T | CA341324946 | AGL | c.2840G>T (p.Arg947Ile) n.3051G>T c.2792G>T (p.Arg931Ile) c.2789G>T (p.Arg930Ile) c.1100G>T (p.Arg367Ile) | gnomAD v4 |
| 1 | g.99891248A>C | CA341324948 | AGL | c.2841A>C (p.Arg947Ser) n.3052A>C c.2793A>C (p.Arg931Ser) c.2790A>C (p.Arg930Ser) c.1101A>C (p.Arg367Ser) | |
| 1 | g.99891248A>G | CA419314451 | AGL | c.2841A>G (p.Arg947=) n.3052A>G c.2793A>G (p.Arg931=) c.2790A>G (p.Arg930=) c.1101A>G (p.Arg367=) | |
| 1 | g.99891248A>T | CA341324950 | AGL | c.2841A>T (p.Arg947Ser) n.3052A>T c.2793A>T (p.Arg931Ser) c.2790A>T (p.Arg930Ser) c.1101A>T (p.Arg367Ser) | |
| 1 | g.99891249C>A | CA341324953 | AGL | c.2842C>A (p.Pro948Thr) n.3053C>A c.2794C>A (p.Pro932Thr) c.2791C>A (p.Pro931Thr) c.1102C>A (p.Pro368Thr) | |
| 1 | g.99891249C= | CA1183933221 | AGL | c.2842C= (p.Pro948=) n.3053C= c.2794C= (p.Pro932=) c.2791C= (p.Pro931=) c.1102C= (p.Pro368=) | |
| 1 | g.99891249C>G | CA341324956 | AGL | c.2842C>G (p.Pro948Ala) n.3053C>G c.2794C>G (p.Pro932Ala) c.2791C>G (p.Pro931Ala) c.1102C>G (p.Pro368Ala) | |
| 1 | g.99891249C>T | CA341324958 | AGL | c.2842C>T (p.Pro948Ser) n.3053C>T c.2794C>T (p.Pro932Ser) c.2791C>T (p.Pro931Ser) c.1102C>T (p.Pro368Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891250C>A | CA341324964 | AGL | c.2843C>A (p.Pro948Gln) n.3054C>A c.2795C>A (p.Pro932Gln) c.2792C>A (p.Pro931Gln) c.1103C>A (p.Pro368Gln) |