UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 1 | g.99891250C>G | CA341324966 | AGL | c.2843C>G (p.Pro948Arg) n.3054C>G c.2795C>G (p.Pro932Arg) c.2792C>G (p.Pro931Arg) c.1103C>G (p.Pro368Arg) | |
| 1 | g.99891250C>T | CA341324961 | AGL | c.2843C>T (p.Pro948Leu) n.3054C>T c.2795C>T (p.Pro932Leu) c.2792C>T (p.Pro931Leu) c.1103C>T (p.Pro368Leu) | gnomAD v4 |
| 1 | g.99891251A>C | CA419314452 | AGL | c.2844A>C (p.Pro948=) n.3055A>C c.2796A>C (p.Pro932=) c.2793A>C (p.Pro931=) c.1104A>C (p.Pro368=) | |
| 1 | g.99891251A>G | CA419314453 | AGL | c.2844A>G (p.Pro948=) n.3055A>G c.2796A>G (p.Pro932=) c.2793A>G (p.Pro931=) c.1104A>G (p.Pro368=) | ClinVar |
| 1 | g.99891251A>T | CA419314454 | AGL | c.2844A>T (p.Pro948=) n.3055A>T c.2796A>T (p.Pro932=) c.2793A>T (p.Pro931=) c.1104A>T (p.Pro368=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891252A= | CA1183933222 | AGL | c.2845A= (p.Lys949=) n.3056A= c.2797A= (p.Lys933=) c.2794A= (p.Lys932=) c.1105A= (p.Lys369=) | |
| 1 | g.99891252A>C | CA341324969 | AGL | c.2845A>C (p.Lys949Gln) n.3056A>C c.2797A>C (p.Lys933Gln) c.2794A>C (p.Lys932Gln) c.1105A>C (p.Lys369Gln) | |
| 1 | g.99891252A>G | CA341324972 | AGL | c.2845A>G (p.Lys949Glu) n.3056A>G c.2797A>G (p.Lys933Glu) c.2794A>G (p.Lys932Glu) c.1105A>G (p.Lys369Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891252A>T | CA341324974 | AGL | c.2845A>T (p.Lys949Ter) n.3056A>T c.2797A>T (p.Lys933Ter) c.2794A>T (p.Lys932Ter) c.1105A>T (p.Lys369Ter) | |
| 1 | g.99891253A>C | CA341324977 | AGL | c.2846A>C (p.Lys949Thr) n.3057A>C c.2798A>C (p.Lys933Thr) c.2795A>C (p.Lys932Thr) c.1106A>C (p.Lys369Thr) | |
| 1 | g.99891253A>G | CA341324979 | AGL | c.2846A>G (p.Lys949Arg) n.3057A>G c.2798A>G (p.Lys933Arg) c.2795A>G (p.Lys932Arg) c.1106A>G (p.Lys369Arg) | |
| 1 | g.99891253A>T | CA341324981 | AGL | c.2846A>T (p.Lys949Met) n.3057A>T c.2798A>T (p.Lys933Met) c.2795A>T (p.Lys932Met) c.1106A>T (p.Lys369Met) | |
| 1 | g.99891254G>A | CA419314455 | AGL | c.2847G>A (p.Lys949=) n.3058G>A c.2799G>A (p.Lys933=) c.2796G>A (p.Lys932=) c.1107G>A (p.Lys369=) | ClinVar |
| 1 | g.99891254G>C | CA341324983 | AGL | c.2847G>C (p.Lys949Asn) n.3058G>C c.2799G>C (p.Lys933Asn) c.2796G>C (p.Lys932Asn) c.1107G>C (p.Lys369Asn) | COSMIC COSMIC |
| 1 | g.99891254G>T | CA341324986 | AGL | c.2847G>T (p.Lys949Asn) n.3058G>T c.2799G>T (p.Lys933Asn) c.2796G>T (p.Lys932Asn) c.1107G>T (p.Lys369Asn) | COSMIC COSMIC |
| 1 | g.99891255A>C | CA341324988 | AGL | c.2848A>C (p.Asn950His) n.3059A>C c.2800A>C (p.Asn934His) c.2797A>C (p.Asn933His) c.1108A>C (p.Asn370His) | |
| 1 | g.99891255A>G | CA341324990 | AGL | c.2848A>G (p.Asn950Asp) n.3059A>G c.2800A>G (p.Asn934Asp) c.2797A>G (p.Asn933Asp) c.1108A>G (p.Asn370Asp) | |
| 1 | g.99891255A>T | CA341324992 | AGL | c.2848A>T (p.Asn950Tyr) n.3059A>T c.2800A>T (p.Asn934Tyr) c.2797A>T (p.Asn933Tyr) c.1108A>T (p.Asn370Tyr) | |
| 1 | g.99891256A= | CA1148274275 | AGL | c.2849A= (p.Asn950=) n.3060A= c.2801A= (p.Asn934=) c.2798A= (p.Asn933=) c.1109A= (p.Asn370=) | |
| 1 | g.99891256A>C | CA341324996 | AGL | c.2849A>C (p.Asn950Thr) n.3060A>C c.2801A>C (p.Asn934Thr) c.2798A>C (p.Asn933Thr) c.1109A>C (p.Asn370Thr) | |
| 1 | g.99891256A>G | CA966919 | AGL | c.2849A>G (p.Asn950Ser) n.3060A>G c.2801A>G (p.Asn934Ser) c.2798A>G (p.Asn933Ser) c.1109A>G (p.Asn370Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891256A>T | CA341324998 | AGL | c.2849A>T (p.Asn950Ile) n.3060A>T c.2801A>T (p.Asn934Ile) c.2798A>T (p.Asn933Ile) c.1109A>T (p.Asn370Ile) | |
| 1 | g.99891257T>A | CA341325000 | AGL | c.2850T>A (p.Asn950Lys) n.3061T>A c.2802T>A (p.Asn934Lys) c.2799T>A (p.Asn933Lys) c.1110T>A (p.Asn370Lys) | |
| 1 | g.99891257T>C | CA419314456 | AGL | c.2850T>C (p.Asn950=) n.3061T>C c.2802T>C (p.Asn934=) c.2799T>C (p.Asn933=) c.1110T>C (p.Asn370=) | ClinVar |
| 1 | g.99891257T>G | CA341325001 | AGL | c.2850T>G (p.Asn950Lys) n.3061T>G c.2802T>G (p.Asn934Lys) c.2799T>G (p.Asn933Lys) c.1110T>G (p.Asn370Lys) | |
| 1 | g.99891258G>A | CA341325003 | AGL | c.2851G>A (p.Asp951Asn) n.3062G>A c.2803G>A (p.Asp935Asn) c.2800G>A (p.Asp934Asn) c.1111G>A (p.Asp371Asn) | ClinVar dbSNP |
| 1 | g.99891258G>C | CA341325005 | AGL | c.2851G>C (p.Asp951His) n.3062G>C c.2803G>C (p.Asp935His) c.2800G>C (p.Asp934His) c.1111G>C (p.Asp371His) | |
| 1 | g.99891258G= | CA1183933223 | AGL | c.2851G= (p.Asp951=) n.3062G= c.2803G= (p.Asp935=) c.2800G= (p.Asp934=) c.1111G= (p.Asp371=) | |
| 1 | g.99891258G>T | CA341325009 | AGL | c.2851G>T (p.Asp951Tyr) n.3062G>T c.2803G>T (p.Asp935Tyr) c.2800G>T (p.Asp934Tyr) c.1111G>T (p.Asp371Tyr) | |
| 1 | g.99891259A>C | CA341325010 | AGL | c.2852A>C (p.Asp951Ala) n.3063A>C c.2804A>C (p.Asp935Ala) c.2801A>C (p.Asp934Ala) c.1112A>C (p.Asp371Ala) | |
| 1 | g.99891259A>G | CA341325011 | AGL | c.2852A>G (p.Asp951Gly) n.3063A>G c.2804A>G (p.Asp935Gly) c.2801A>G (p.Asp934Gly) c.1112A>G (p.Asp371Gly) | gnomAD v4 |
| 1 | g.99891259A>T | CA341325012 | AGL | c.2852A>T (p.Asp951Val) n.3063A>T c.2804A>T (p.Asp935Val) c.2801A>T (p.Asp934Val) c.1112A>T (p.Asp371Val) | |
| 1 | g.99891260C>A | CA341325013 | AGL | c.2853C>A (p.Asp951Glu) n.3064C>A c.2805C>A (p.Asp935Glu) c.2802C>A (p.Asp934Glu) c.1113C>A (p.Asp371Glu) | |
| 1 | g.99891260C>G | CA341325014 | AGL | c.2853C>G (p.Asp951Glu) n.3064C>G c.2805C>G (p.Asp935Glu) c.2802C>G (p.Asp934Glu) c.1113C>G (p.Asp371Glu) | |
| 1 | g.99891260C>T | CA419314457 | AGL | c.2853C>T (p.Asp951=) n.3064C>T c.2805C>T (p.Asp935=) c.2802C>T (p.Asp934=) c.1113C>T (p.Asp371=) | |
| 1 | g.99891261T>A | CA341325016 | AGL | c.2854T>A (p.Leu952Met) n.3065T>A c.2806T>A (p.Leu936Met) c.2803T>A (p.Leu935Met) c.1114T>A (p.Leu372Met) | |
| 1 | g.99891261T>C | CA966920 | AGL | c.2854T>C (p.Leu952=) n.3065T>C c.2806T>C (p.Leu936=) c.2803T>C (p.Leu935=) c.1114T>C (p.Leu372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891261T>G | CA341325019 | AGL | c.2854T>G (p.Leu952Val) n.3065T>G c.2806T>G (p.Leu936Val) c.2803T>G (p.Leu935Val) c.1114T>G (p.Leu372Val) | |
| 1 | g.99891261T= | CA1183933224 | AGL | c.2854T= (p.Leu952=) n.3065T= c.2806T= (p.Leu936=) c.2803T= (p.Leu935=) c.1114T= (p.Leu372=) | |
| 1 | g.99891262dup | CA2586967001 | AGL | c.2855dup (p.Leu952PhefsTer7) n.3066dup c.2807dup (p.Leu936PhefsTer7) c.2804dup (p.Leu935PhefsTer7) c.1115dup (p.Leu372PhefsTer7) | |
| 1 | g.99891262T>A | CA341325025 | AGL | c.2855T>A (p.Leu952Ter) n.3066T>A c.2807T>A (p.Leu936Ter) c.2804T>A (p.Leu935Ter) c.1115T>A (p.Leu372Ter) | |
| 1 | g.99891262T>C | CA341325023 | AGL | c.2855T>C (p.Leu952Ser) n.3066T>C c.2807T>C (p.Leu936Ser) c.2804T>C (p.Leu935Ser) c.1115T>C (p.Leu372Ser) | |
| 1 | g.99891262T>G | CA341325021 | AGL | c.2855T>G (p.Leu952Trp) n.3066T>G c.2807T>G (p.Leu936Trp) c.2804T>G (p.Leu935Trp) c.1115T>G (p.Leu372Trp) | |
| 1 | g.99891263G>A | CA419314458 | AGL | c.2856G>A (p.Leu952=) n.3067G>A c.2808G>A (p.Leu936=) c.2805G>A (p.Leu935=) c.1116G>A (p.Leu372=) | dbSNP |
| 1 | g.99891263G>C | CA341325026 | AGL | c.2856G>C (p.Leu952Phe) n.3067G>C c.2808G>C (p.Leu936Phe) c.2805G>C (p.Leu935Phe) c.1116G>C (p.Leu372Phe) | |
| 1 | g.99891263G= | CA1143390458 | AGL | c.2856G= (p.Leu952=) n.3067G= c.2808G= (p.Leu936=) c.2805G= (p.Leu935=) c.1116G= (p.Leu372=) | |
| 1 | g.99891263G>T | CA966921 | AGL | c.2856G>T (p.Leu952Phe) n.3067G>T c.2808G>T (p.Leu936Phe) c.2805G>T (p.Leu935Phe) c.1116G>T (p.Leu372Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891266del | CA2646737224 | AGL | c.2859del (p.His954IlefsTer7) n.3070del c.2811del (p.His938IlefsTer7) c.2808del (p.His937IlefsTer7) c.1119del (p.His374IlefsTer7) | gnomAD v4 |
| 1 | g.99891264G>A | CA27526341 | AGL | c.2857G>A (p.Gly953Arg) n.3068G>A c.2809G>A (p.Gly937Arg) c.2806G>A (p.Gly936Arg) c.1117G>A (p.Gly373Arg) | ClinVar dbSNP |
| 1 | g.99891264G>C | CA341325030 | AGL | c.2857G>C (p.Gly953Arg) n.3068G>C c.2809G>C (p.Gly937Arg) c.2806G>C (p.Gly936Arg) c.1117G>C (p.Gly373Arg) | |
| 1 | g.99891264G= | CA1183933225 | AGL | c.2857G= (p.Gly953=) n.3068G= c.2809G= (p.Gly937=) c.2806G= (p.Gly936=) c.1117G= (p.Gly373=) | |
| 1 | g.99891264G>T | CA341325032 | AGL | c.2857G>T (p.Gly953Trp) n.3068G>T c.2809G>T (p.Gly937Trp) c.2806G>T (p.Gly936Trp) c.1117G>T (p.Gly373Trp) | gnomAD v4 |
| 1 | g.99891265G>A | CA341325034 | AGL | c.2858G>A (p.Gly953Glu) n.3069G>A c.2810G>A (p.Gly937Glu) c.2807G>A (p.Gly936Glu) c.1118G>A (p.Gly373Glu) | gnomAD v4 |
| 1 | g.99891265G>C | CA341325035 | AGL | c.2858G>C (p.Gly953Ala) n.3069G>C c.2810G>C (p.Gly937Ala) c.2807G>C (p.Gly936Ala) c.1118G>C (p.Gly373Ala) | gnomAD v4 |
| 1 | g.99891265G>T | CA341325040 | AGL | c.2858G>T (p.Gly953Val) n.3069G>T c.2810G>T (p.Gly937Val) c.2807G>T (p.Gly936Val) c.1118G>T (p.Gly373Val) | |
| 1 | g.99891266G>A | CA419314459 | AGL | c.2859G>A (p.Gly953=) n.3070G>A c.2811G>A (p.Gly937=) c.2808G>A (p.Gly936=) c.1119G>A (p.Gly373=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99891266G>C | CA966922 | AGL | c.2859G>C (p.Gly953=) n.3070G>C c.2811G>C (p.Gly937=) c.2808G>C (p.Gly936=) c.1119G>C (p.Gly373=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891266G= | CA1149129730 | AGL | c.2859G= (p.Gly953=) n.3070G= c.2811G= (p.Gly937=) c.2808G= (p.Gly936=) c.1119G= (p.Gly373=) | |
| 1 | g.99891266G>T | CA419314460 | AGL | c.2859G>T (p.Gly953=) n.3070G>T c.2811G>T (p.Gly937=) c.2808G>T (p.Gly936=) c.1119G>T (p.Gly373=) | |
| 1 | g.99891267C>A | CA341325047 | AGL | c.2860C>A (p.His954Asn) n.3071C>A c.2812C>A (p.His938Asn) c.2809C>A (p.His937Asn) c.1120C>A (p.His374Asn) | ClinVar |
| 1 | g.99891267C>G | CA341325048 | AGL | c.2860C>G (p.His954Asp) n.3071C>G c.2812C>G (p.His938Asp) c.2809C>G (p.His937Asp) c.1120C>G (p.His374Asp) | |
| 1 | g.99891267C>T | CA341325050 | AGL | c.2860C>T (p.His954Tyr) n.3071C>T c.2812C>T (p.His938Tyr) c.2809C>T (p.His937Tyr) c.1120C>T (p.His374Tyr) | |
| 1 | g.99891268A>C | CA341325052 | AGL | c.2861A>C (p.His954Pro) n.3072A>C c.2813A>C (p.His938Pro) c.2810A>C (p.His937Pro) c.1121A>C (p.His374Pro) | |
| 1 | g.99891268A>G | CA341325054 | AGL | c.2861A>G (p.His954Arg) n.3072A>G c.2813A>G (p.His938Arg) c.2810A>G (p.His937Arg) c.1121A>G (p.His374Arg) | COSMIC COSMIC |
| 1 | g.99891268A>T | CA341325056 | AGL | c.2861A>T (p.His954Leu) n.3072A>T c.2813A>T (p.His938Leu) c.2810A>T (p.His937Leu) c.1121A>T (p.His374Leu) | |
| 1 | g.99891269T>A | CA341325059 | AGL | c.2862T>A (p.His954Gln) n.3073T>A c.2814T>A (p.His938Gln) c.2811T>A (p.His937Gln) c.1122T>A (p.His374Gln) | |
| 1 | g.99891269T>C | CA419314461 | AGL | c.2862T>C (p.His954=) n.3073T>C c.2814T>C (p.His938=) c.2811T>C (p.His937=) c.1122T>C (p.His374=) | |
| 1 | g.99891269T>G | CA341325058 | AGL | c.2862T>G (p.His954Gln) n.3073T>G c.2814T>G (p.His938Gln) c.2811T>G (p.His937Gln) c.1122T>G (p.His374Gln) | |
| 1 | g.99891270C>A | CA341325060 | AGL | c.2863C>A (p.Pro955Thr) n.3074C>A c.2815C>A (p.Pro939Thr) c.2812C>A (p.Pro938Thr) c.1123C>A (p.Pro375Thr) | |
| 1 | g.99891270C>G | CA341325061 | AGL | c.2863C>G (p.Pro955Ala) n.3074C>G c.2815C>G (p.Pro939Ala) c.2812C>G (p.Pro938Ala) c.1123C>G (p.Pro375Ala) | |
| 1 | g.99891270C>T | CA341325062 | AGL | c.2863C>T (p.Pro955Ser) n.3074C>T c.2815C>T (p.Pro939Ser) c.2812C>T (p.Pro938Ser) c.1123C>T (p.Pro375Ser) | gnomAD v4 |
| 1 | g.99891271C>A | CA341325064 | AGL | c.2864C>A (p.Pro955His) n.3075C>A c.2816C>A (p.Pro939His) c.2813C>A (p.Pro938His) c.1124C>A (p.Pro375His) | |
| 1 | g.99891271C>G | CA341325066 | AGL | c.2864C>G (p.Pro955Arg) n.3075C>G c.2816C>G (p.Pro939Arg) c.2813C>G (p.Pro938Arg) c.1124C>G (p.Pro375Arg) | gnomAD v4 COSMIC COSMIC |
| 1 | g.99891271C>T | CA341325067 | AGL | c.2864C>T (p.Pro955Leu) n.3075C>T c.2816C>T (p.Pro939Leu) c.2813C>T (p.Pro938Leu) c.1124C>T (p.Pro375Leu) | COSMIC COSMIC |
| 1 | g.99891272T>A | CA419314462 | AGL | c.2865T>A (p.Pro955=) n.3076T>A c.2817T>A (p.Pro939=) c.2814T>A (p.Pro938=) c.1125T>A (p.Pro375=) | |
| 1 | g.99891272T>C | CA419314463 | AGL | c.2865T>C (p.Pro955=) n.3076T>C c.2817T>C (p.Pro939=) c.2814T>C (p.Pro938=) c.1125T>C (p.Pro375=) | ClinVar |
| 1 | g.99891272T>G | CA419314464 | AGL | c.2865T>G (p.Pro955=) n.3076T>G c.2817T>G (p.Pro939=) c.2814T>G (p.Pro938=) c.1125T>G (p.Pro375=) | |
| 1 | g.99891276del | CA2695198065 | AGL | c.2869del (p.Cys957ValfsTer4) n.3080del c.2821del (p.Cys941ValfsTer4) c.2818del (p.Cys940ValfsTer4) c.1129del (p.Cys377ValfsTer4) | ClinVar |
| 1 | g.99891273T>A | CA341325069 | AGL | c.2866T>A (p.Phe956Ile) n.3077T>A c.2818T>A (p.Phe940Ile) c.2815T>A (p.Phe939Ile) c.1126T>A (p.Phe376Ile) | |
| 1 | g.99891273T>C | CA341325071 | AGL | c.2866T>C (p.Phe956Leu) n.3077T>C c.2818T>C (p.Phe940Leu) c.2815T>C (p.Phe939Leu) c.1126T>C (p.Phe376Leu) | |
| 1 | g.99891273T>G | CA341325075 | AGL | c.2866T>G (p.Phe956Val) n.3077T>G c.2818T>G (p.Phe940Val) c.2815T>G (p.Phe939Val) c.1126T>G (p.Phe376Val) | |
| 1 | g.99891274T>A | CA341325077 | AGL | c.2867T>A (p.Phe956Tyr) n.3078T>A c.2819T>A (p.Phe940Tyr) c.2816T>A (p.Phe939Tyr) c.1127T>A (p.Phe376Tyr) | |
| 1 | g.99891274T>C | CA341325079 | AGL | c.2867T>C (p.Phe956Ser) n.3078T>C c.2819T>C (p.Phe940Ser) c.2816T>C (p.Phe939Ser) c.1127T>C (p.Phe376Ser) | |
| 1 | g.99891274T>G | CA341325080 | AGL | c.2867T>G (p.Phe956Cys) n.3078T>G c.2819T>G (p.Phe940Cys) c.2816T>G (p.Phe939Cys) c.1127T>G (p.Phe376Cys) | |
| 1 | g.99891275T>A | CA341325085 | AGL | c.2868T>A (p.Phe956Leu) n.3079T>A c.2820T>A (p.Phe940Leu) c.2817T>A (p.Phe939Leu) c.1128T>A (p.Phe376Leu) | |
| 1 | g.99891275T>C | CA27526344 | AGL | c.2868T>C (p.Phe956=) n.3079T>C c.2820T>C (p.Phe940=) c.2817T>C (p.Phe939=) c.1128T>C (p.Phe376=) | dbSNP gnomAD v4 |
| 1 | g.99891275T>G | CA341325082 | AGL | c.2868T>G (p.Phe956Leu) n.3079T>G c.2820T>G (p.Phe940Leu) c.2817T>G (p.Phe939Leu) c.1128T>G (p.Phe376Leu) | COSMIC |
| 1 | g.99891275T= | CA1148280209 | AGL | c.2868T= (p.Phe956=) n.3079T= c.2820T= (p.Phe940=) c.2817T= (p.Phe939=) c.1128T= (p.Phe376=) | |
| 1 | g.99891276T>A | CA341325086 | AGL | c.2869T>A (p.Cys957Ser) n.3080T>A c.2821T>A (p.Cys941Ser) c.2818T>A (p.Cys940Ser) c.1129T>A (p.Cys377Ser) | |
| 1 | g.99891276T>C | CA341325088 | AGL | c.2869T>C (p.Cys957Arg) n.3080T>C c.2821T>C (p.Cys941Arg) c.2818T>C (p.Cys940Arg) c.1129T>C (p.Cys377Arg) | |
| 1 | g.99891276T>G | CA341325089 | AGL | c.2869T>G (p.Cys957Gly) n.3080T>G c.2821T>G (p.Cys941Gly) c.2818T>G (p.Cys940Gly) c.1129T>G (p.Cys377Gly) | |
| 1 | g.99891277G>A | CA341325091 | AGL | c.2870G>A (p.Cys957Tyr) n.3081G>A c.2822G>A (p.Cys941Tyr) c.2819G>A (p.Cys940Tyr) c.1130G>A (p.Cys377Tyr) | |
| 1 | g.99891277G>C | CA341325092 | AGL | c.2870G>C (p.Cys957Ser) n.3081G>C c.2822G>C (p.Cys941Ser) c.2819G>C (p.Cys940Ser) c.1130G>C (p.Cys377Ser) | |
| 1 | g.99891277G>T | CA341325094 | AGL | c.2870G>T (p.Cys957Phe) n.3081G>T c.2822G>T (p.Cys941Phe) c.2819G>T (p.Cys940Phe) c.1130G>T (p.Cys377Phe) | |
| 1 | g.99891278T>A | CA341325096 | AGL | c.2871T>A (p.Cys957Ter) n.3082T>A c.2823T>A (p.Cys941Ter) c.2820T>A (p.Cys940Ter) c.1131T>A (p.Cys377Ter) | |
| 1 | g.99891278T>C | CA419314465 | AGL | c.2871T>C (p.Cys957=) n.3082T>C c.2823T>C (p.Cys941=) c.2820T>C (p.Cys940=) c.1131T>C (p.Cys377=) | |
| 1 | g.99891278T>G | CA341325098 | AGL | c.2871T>G (p.Cys957Trp) n.3082T>G c.2823T>G (p.Cys941Trp) c.2820T>G (p.Cys940Trp) c.1131T>G (p.Cys377Trp) | |
| 1 | g.99891279A>C | CA341325100 | AGL | c.2872A>C (p.Asn958His) n.3083A>C c.2824A>C (p.Asn942His) c.2821A>C (p.Asn941His) c.1132A>C (p.Asn378His) | |
| 1 | g.99891279A>G | CA341325105 | AGL | c.2872A>G (p.Asn958Asp) n.3083A>G c.2824A>G (p.Asn942Asp) c.2821A>G (p.Asn941Asp) c.1132A>G (p.Asn378Asp) | |
| 1 | g.99891279A>T | CA341325107 | AGL | c.2872A>T (p.Asn958Tyr) n.3083A>T c.2824A>T (p.Asn942Tyr) c.2821A>T (p.Asn941Tyr) c.1132A>T (p.Asn378Tyr) | |
| 1 | g.99891280A= | CA1183933226 | AGL | c.2873A= (p.Asn958=) n.3084A= c.2825A= (p.Asn942=) c.2822A= (p.Asn941=) c.1133A= (p.Asn378=) | |
| 1 | g.99891280A>C | CA341325108 | AGL | c.2873A>C (p.Asn958Thr) n.3084A>C c.2825A>C (p.Asn942Thr) c.2822A>C (p.Asn941Thr) c.1133A>C (p.Asn378Thr) | |
| 1 | g.99891280A>G | CA341325109 | AGL | c.2873A>G (p.Asn958Ser) n.3084A>G c.2825A>G (p.Asn942Ser) c.2822A>G (p.Asn941Ser) c.1133A>G (p.Asn378Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891280A>T | CA341325110 | AGL | c.2873A>T (p.Asn958Ile) n.3084A>T c.2825A>T (p.Asn942Ile) c.2822A>T (p.Asn941Ile) c.1133A>T (p.Asn378Ile) | |
| 1 | g.99891281T>A | CA341325111 | AGL | c.2874T>A (p.Asn958Lys) n.3085T>A c.2826T>A (p.Asn942Lys) c.2823T>A (p.Asn941Lys) c.1134T>A (p.Asn378Lys) | |
| 1 | g.99891281T>C | CA419314466 | AGL | c.2874T>C (p.Asn958=) n.3085T>C c.2826T>C (p.Asn942=) c.2823T>C (p.Asn941=) c.1134T>C (p.Asn378=) | |
| 1 | g.99891281T>G | CA341325112 | AGL | c.2874T>G (p.Asn958Lys) n.3085T>G c.2826T>G (p.Asn942Lys) c.2823T>G (p.Asn941Lys) c.1134T>G (p.Asn378Lys) | |
| 1 | g.99891282A>C | CA341325113 | AGL | c.2875A>C (p.Asn959His) n.3086A>C c.2827A>C (p.Asn943His) c.2824A>C (p.Asn942His) c.1135A>C (p.Asn379His) | |
| 1 | g.99891282A>G | CA341325114 | AGL | c.2875A>G (p.Asn959Asp) n.3086A>G c.2827A>G (p.Asn943Asp) c.2824A>G (p.Asn942Asp) c.1135A>G (p.Asn379Asp) | |
| 1 | g.99891282A>T | CA341325116 | AGL | c.2875A>T (p.Asn959Tyr) n.3086A>T c.2827A>T (p.Asn943Tyr) c.2824A>T (p.Asn942Tyr) c.1135A>T (p.Asn379Tyr) | |
| 1 | g.99891283del | CA2646737241 | AGL | c.2876del (p.Asn959IlefsTer2) n.3087del c.2828del (p.Asn943IlefsTer2) c.2825del (p.Asn942IlefsTer2) c.1136del (p.Asn379IlefsTer2) | gnomAD v4 |
| 1 | g.99891283A>C | CA341325118 | AGL | c.2876A>C (p.Asn959Thr) n.3087A>C c.2828A>C (p.Asn943Thr) c.2825A>C (p.Asn942Thr) c.1136A>C (p.Asn379Thr) | |
| 1 | g.99891283A>G | CA341325119 | AGL | c.2876A>G (p.Asn959Ser) n.3087A>G c.2828A>G (p.Asn943Ser) c.2825A>G (p.Asn942Ser) c.1136A>G (p.Asn379Ser) | |
| 1 | g.99891283A>T | CA341325121 | AGL | c.2876A>T (p.Asn959Ile) n.3087A>T c.2828A>T (p.Asn943Ile) c.2825A>T (p.Asn942Ile) c.1136A>T (p.Asn379Ile) | |
| 1 | g.99891284T>A | CA341325122 | AGL | c.2877T>A (p.Asn959Lys) n.3088T>A c.2829T>A (p.Asn943Lys) c.2826T>A (p.Asn942Lys) c.1137T>A (p.Asn379Lys) | |
| 1 | g.99891284T>C | CA419314467 | AGL | c.2877T>C (p.Asn959=) n.3088T>C c.2829T>C (p.Asn943=) c.2826T>C (p.Asn942=) c.1137T>C (p.Asn379=) | |
| 1 | g.99891284T>G | CA341325123 | AGL | c.2877T>G (p.Asn959Lys) n.3088T>G c.2829T>G (p.Asn943Lys) c.2826T>G (p.Asn942Lys) c.1137T>G (p.Asn379Lys) | |
| 1 | g.99891285T>A | CA341325125 | AGL | c.2878T>A (p.Leu960Met) n.3089T>A c.2830T>A (p.Leu944Met) c.2827T>A (p.Leu943Met) c.1138T>A (p.Leu380Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891285T>C | CA419314468 | AGL | c.2878T>C (p.Leu960=) n.3089T>C c.2830T>C (p.Leu944=) c.2827T>C (p.Leu943=) c.1138T>C (p.Leu380=) | |
| 1 | g.99891285T>G | CA341325127 | AGL | c.2878T>G (p.Leu960Val) n.3089T>G c.2830T>G (p.Leu944Val) c.2827T>G (p.Leu943Val) c.1138T>G (p.Leu380Val) | |
| 1 | g.99891285T= | CA1183933227 | AGL | c.2878T= (p.Leu960=) n.3089T= c.2830T= (p.Leu944=) c.2827T= (p.Leu943=) c.1138T= (p.Leu380=) | |
| 1 | g.99891286T>A | CA341325129 | AGL | c.2879T>A (p.Leu960Ter) n.3090T>A c.2831T>A (p.Leu944Ter) c.2828T>A (p.Leu943Ter) c.1139T>A (p.Leu380Ter) | |
| 1 | g.99891286T>C | CA341325131 | AGL | c.2879T>C (p.Leu960Ser) n.3090T>C c.2831T>C (p.Leu944Ser) c.2828T>C (p.Leu943Ser) c.1139T>C (p.Leu380Ser) | |
| 1 | g.99891286T>G | CA341325133 | AGL | c.2879T>G (p.Leu960Trp) n.3090T>G c.2831T>G (p.Leu944Trp) c.2828T>G (p.Leu943Trp) c.1139T>G (p.Leu380Trp) | gnomAD v4 |
| 1 | g.99891287G>A | CA419314469 | AGL | c.2880G>A (p.Leu960=) n.3091G>A c.2832G>A (p.Leu944=) c.2829G>A (p.Leu943=) c.1140G>A (p.Leu380=) | gnomAD v4 |
| 1 | g.99891287G>C | CA341325136 | AGL | c.2880G>C (p.Leu960Phe) n.3091G>C c.2832G>C (p.Leu944Phe) c.2829G>C (p.Leu943Phe) c.1140G>C (p.Leu380Phe) | COSMIC |
| 1 | g.99891287G>T | CA341325134 | AGL | c.2880G>T (p.Leu960Phe) n.3091G>T c.2832G>T (p.Leu944Phe) c.2829G>T (p.Leu943Phe) c.1140G>T (p.Leu380Phe) | |
| 1 | g.99891288A>C | CA419314470 | AGL | c.2881A>C (p.Arg961=) n.3092A>C c.2833A>C (p.Arg945=) c.2830A>C (p.Arg944=) c.1141A>C (p.Arg381=) | |
| 1 | g.99891288A>G | CA341325139 | AGL | c.2881A>G (p.Arg961Gly) n.3092A>G c.2833A>G (p.Arg945Gly) c.2830A>G (p.Arg944Gly) c.1141A>G (p.Arg381Gly) | |
| 1 | g.99891288A>T | CA341325140 | AGL | c.2881A>T (p.Arg961Ter) n.3092A>T c.2833A>T (p.Arg945Ter) c.2830A>T (p.Arg944Ter) c.1141A>T (p.Arg381Ter) | |
| 1 | g.99891289G>A | CA341325141 | AGL | c.2882G>A (p.Arg961Lys) n.3093G>A c.2834G>A (p.Arg945Lys) c.2831G>A (p.Arg944Lys) c.1142G>A (p.Arg381Lys) | |
| 1 | g.99891289G>C | CA341325145 | AGL | c.2882G>C (p.Arg961Thr) n.3093G>C c.2834G>C (p.Arg945Thr) c.2831G>C (p.Arg944Thr) c.1142G>C (p.Arg381Thr) | |
| 1 | g.99891289G>T | CA341325143 | AGL | c.2882G>T (p.Arg961Ile) n.3093G>T c.2834G>T (p.Arg945Ile) c.2831G>T (p.Arg944Ile) c.1142G>T (p.Arg381Ile) | |
| 1 | g.99891290A= | CA1141349308 | AGL | c.2883A= (p.Arg961=) n.3094A= c.2835A= (p.Arg945=) c.2832A= (p.Arg944=) c.1143A= (p.Arg381=) | |
| 1 | g.99891290A>C | CA341325147 | AGL | c.2883A>C (p.Arg961Ser) n.3094A>C c.2835A>C (p.Arg945Ser) c.2832A>C (p.Arg944Ser) c.1143A>C (p.Arg381Ser) | |
| 1 | g.99891290A>G | CA966923 | AGL | c.2883A>G (p.Arg961=) n.3094A>G c.2835A>G (p.Arg945=) c.2832A>G (p.Arg944=) c.1143A>G (p.Arg381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891290A>T | CA341325149 | AGL | c.2883A>T (p.Arg961Ser) n.3094A>T c.2835A>T (p.Arg945Ser) c.2832A>T (p.Arg944Ser) c.1143A>T (p.Arg381Ser) | |
| 1 | g.99891291T>A | CA27526403 | AGL | c.2884T>A (p.Ser962Thr) n.3095T>A c.2836T>A (p.Ser946Thr) c.2833T>A (p.Ser945Thr) c.1144T>A (p.Ser382Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891291T>C | CA341325152 | AGL | c.2884T>C (p.Ser962Pro) n.3095T>C c.2836T>C (p.Ser946Pro) c.2833T>C (p.Ser945Pro) c.1144T>C (p.Ser382Pro) | |
| 1 | g.99891291T>G | CA341325154 | AGL | c.2884T>G (p.Ser962Ala) n.3095T>G c.2836T>G (p.Ser946Ala) c.2833T>G (p.Ser945Ala) c.1144T>G (p.Ser382Ala) | |
| 1 | g.99891291T= | CA1183933228 | AGL | c.2884T= (p.Ser962=) n.3095T= c.2836T= (p.Ser946=) c.2833T= (p.Ser945=) c.1144T= (p.Ser382=) | |
| 1 | g.99891292C>A | CA341325157 | AGL | c.2885C>A (p.Ser962Tyr) n.3096C>A c.2837C>A (p.Ser946Tyr) c.2834C>A (p.Ser945Tyr) c.1145C>A (p.Ser382Tyr) | |
| 1 | g.99891292C= | CA1140534429 | AGL | c.2885C= (p.Ser962=) n.3096C= c.2837C= (p.Ser946=) c.2834C= (p.Ser945=) c.1145C= (p.Ser382=) | |
| 1 | g.99891292C>G | CA966924 | AGL | c.2885C>G (p.Ser962Cys) n.3096C>G c.2837C>G (p.Ser946Cys) c.2834C>G (p.Ser945Cys) c.1145C>G (p.Ser382Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891292C>T | CA966925 | AGL | c.2885C>T (p.Ser962Phe) n.3096C>T c.2837C>T (p.Ser946Phe) c.2834C>T (p.Ser945Phe) c.1145C>T (p.Ser382Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891293T>A | CA419314471 | AGL | c.2886T>A (p.Ser962=) n.3097T>A c.2838T>A (p.Ser946=) c.2835T>A (p.Ser945=) c.1146T>A (p.Ser382=) | |
| 1 | g.99891293T>C | CA419314472 | AGL | c.2886T>C (p.Ser962=) n.3097T>C c.2838T>C (p.Ser946=) c.2835T>C (p.Ser945=) c.1146T>C (p.Ser382=) | |
| 1 | g.99891293T>G | CA419314473 | AGL | c.2886T>G (p.Ser962=) n.3097T>G c.2838T>G (p.Ser946=) c.2835T>G (p.Ser945=) c.1146T>G (p.Ser382=) | |
| 1 | g.99891294G>A | CA341325160 | AGL | c.2887G>A (p.Gly963Arg) n.3098G>A c.2839G>A (p.Gly947Arg) c.2836G>A (p.Gly946Arg) c.1147G>A (p.Gly383Arg) | |
| 1 | g.99891294G>C | CA341325161 | AGL | c.2887G>C (p.Gly963Arg) n.3098G>C c.2839G>C (p.Gly947Arg) c.2836G>C (p.Gly946Arg) c.1147G>C (p.Gly383Arg) | |
| 1 | g.99891294G>T | CA341325163 | AGL | c.2887G>T (p.Gly963Ter) n.3098G>T c.2839G>T (p.Gly947Ter) c.2836G>T (p.Gly946Ter) c.1147G>T (p.Gly383Ter) | |
| 1 | g.99891295G>A | CA341325164 | AGL | c.2888G>A (p.Gly963Glu) n.3099G>A c.2840G>A (p.Gly947Glu) c.2837G>A (p.Gly946Glu) c.1148G>A (p.Gly383Glu) | |
| 1 | g.99891295G>C | CA341325165 | AGL | c.2888G>C (p.Gly963Ala) n.3099G>C c.2840G>C (p.Gly947Ala) c.2837G>C (p.Gly946Ala) c.1148G>C (p.Gly383Ala) | |
| 1 | g.99891295G>T | CA341325166 | AGL | c.2888G>T (p.Gly963Val) n.3099G>T c.2840G>T (p.Gly947Val) c.2837G>T (p.Gly946Val) c.1148G>T (p.Gly383Val) | |
| 1 | g.99891296A>C | CA419314474 | AGL | c.2889A>C (p.Gly963=) n.3100A>C c.2841A>C (p.Gly947=) c.2838A>C (p.Gly946=) c.1149A>C (p.Gly383=) | |
| 1 | g.99891296A>G | CA419314476 | AGL | c.2889A>G (p.Gly963=) n.3100A>G c.2841A>G (p.Gly947=) c.2838A>G (p.Gly946=) c.1149A>G (p.Gly383=) | |
| 1 | g.99891296A>T | CA419314475 | AGL | c.2889A>T (p.Gly963=) n.3100A>T c.2841A>T (p.Gly947=) c.2838A>T (p.Gly946=) c.1149A>T (p.Gly383=) | |
| 1 | g.99891297G>A | CA341325168 | AGL | c.2890G>A (p.Asp964Asn) n.3101G>A c.2842G>A (p.Asp948Asn) c.2839G>A (p.Asp947Asn) c.1150G>A (p.Asp384Asn) | |
| 1 | g.99891297G>C | CA341325171 | AGL | c.2890G>C (p.Asp964His) n.3101G>C c.2842G>C (p.Asp948His) c.2839G>C (p.Asp947His) c.1150G>C (p.Asp384His) | |
| 1 | g.99891297G>T | CA341325170 | AGL | c.2890G>T (p.Asp964Tyr) n.3101G>T c.2842G>T (p.Asp948Tyr) c.2839G>T (p.Asp947Tyr) c.1150G>T (p.Asp384Tyr) | |
| 1 | g.99891298A= | CA1183933229 | AGL | c.2891A= (p.Asp964=) n.3102A= c.2843A= (p.Asp948=) c.2840A= (p.Asp947=) c.1151A= (p.Asp384=) | |
| 1 | g.99891298A>C | CA341325173 | AGL | c.2891A>C (p.Asp964Ala) n.3102A>C c.2843A>C (p.Asp948Ala) c.2840A>C (p.Asp947Ala) c.1151A>C (p.Asp384Ala) | |
| 1 | g.99891298A>G | CA341325175 | AGL | c.2891A>G (p.Asp964Gly) n.3102A>G c.2843A>G (p.Asp948Gly) c.2840A>G (p.Asp947Gly) c.1151A>G (p.Asp384Gly) | dbSNP |
| 1 | g.99891298A>T | CA341325177 | AGL | c.2891A>T (p.Asp964Val) n.3102A>T c.2843A>T (p.Asp948Val) c.2840A>T (p.Asp947Val) c.1151A>T (p.Asp384Val) | |
| 1 | g.99891299T>A | CA341325179 | AGL | c.2892T>A (p.Asp964Glu) n.3103T>A c.2844T>A (p.Asp948Glu) c.2841T>A (p.Asp947Glu) c.1152T>A (p.Asp384Glu) | |
| 1 | g.99891299T>C | CA419314477 | AGL | c.2892T>C (p.Asp964=) n.3103T>C c.2844T>C (p.Asp948=) c.2841T>C (p.Asp947=) c.1152T>C (p.Asp384=) | ClinVar dbSNP |
| 1 | g.99891299T>G | CA341325180 | AGL | c.2892T>G (p.Asp964Glu) n.3103T>G c.2844T>G (p.Asp948Glu) c.2841T>G (p.Asp947Glu) c.1152T>G (p.Asp384Glu) | |
| 1 | g.99891300T>A | CA341325182 | AGL | c.2893T>A (p.Trp965Arg) n.3104T>A c.2845T>A (p.Trp949Arg) c.2842T>A (p.Trp948Arg) c.1153T>A (p.Trp385Arg) | |
| 1 | g.99891300T>C | CA341325184 | AGL | c.2893T>C (p.Trp965Arg) n.3104T>C c.2845T>C (p.Trp949Arg) c.2842T>C (p.Trp948Arg) c.1153T>C (p.Trp385Arg) | |
| 1 | g.99891300T>G | CA966926 | AGL | c.2893T>G (p.Trp965Gly) n.3104T>G c.2845T>G (p.Trp949Gly) c.2842T>G (p.Trp948Gly) c.1153T>G (p.Trp385Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891300T= | CA1183933230 | AGL | c.2893T= (p.Trp965=) n.3104T= c.2845T= (p.Trp949=) c.2842T= (p.Trp948=) c.1153T= (p.Trp385=) | |
| 1 | g.99891301G>A | CA341325186 | AGL | c.2894G>A (p.Trp965Ter) n.3105G>A c.2846G>A (p.Trp949Ter) c.2843G>A (p.Trp948Ter) c.1154G>A (p.Trp385Ter) | ClinVar dbSNP |
| 1 | g.99891301G>C | CA341325189 | AGL | c.2894G>C (p.Trp965Ser) n.3105G>C c.2846G>C (p.Trp949Ser) c.2843G>C (p.Trp948Ser) c.1154G>C (p.Trp385Ser) | |
| 1 | g.99891301G= | CA1183933231 | AGL | c.2894G= (p.Trp965=) n.3105G= c.2846G= (p.Trp949=) c.2843G= (p.Trp948=) c.1154G= (p.Trp385=) | |
| 1 | g.99891301G>T | CA341325190 | AGL | c.2894G>T (p.Trp965Leu) n.3105G>T c.2846G>T (p.Trp949Leu) c.2843G>T (p.Trp948Leu) c.1154G>T (p.Trp385Leu) | |
| 1 | g.99891301_99891303delinsTG | CA2586967002 | AGL | c.2894_2896delinsTG (p.Trp965LeufsTer2) n.3105_3107delinsTG c.2846_2848delinsTG (p.Trp949LeufsTer2) c.2843_2845delinsTG (p.Trp948LeufsTer2) c.1154_1156delinsTG (p.Trp385LeufsTer2) | |
| 1 | g.99891302G>A | CA341325192 | AGL | c.2895G>A (p.Trp965Ter) n.3106G>A c.2847G>A (p.Trp949Ter) c.2844G>A (p.Trp948Ter) c.1155G>A (p.Trp385Ter) | ClinVar dbSNP |
| 1 | g.99891302G>C | CA341325196 | AGL | c.2895G>C (p.Trp965Cys) n.3106G>C c.2847G>C (p.Trp949Cys) c.2844G>C (p.Trp948Cys) c.1155G>C (p.Trp385Cys) | |
| 1 | g.99891302G>T | CA341325195 | AGL | c.2895G>T (p.Trp965Cys) n.3106G>T c.2847G>T (p.Trp949Cys) c.2844G>T (p.Trp948Cys) c.1155G>T (p.Trp385Cys) | gnomAD v4 |
| 1 | g.99891303A= | CA1183933232 | AGL | c.2896A= (p.Met966=) n.3107A= c.2848A= (p.Met950=) c.2845A= (p.Met949=) c.1156A= (p.Met386=) | |
| 1 | g.99891303A>C | CA341325198 | AGL | c.2896A>C (p.Met966Leu) n.3107A>C c.2848A>C (p.Met950Leu) c.2845A>C (p.Met949Leu) c.1156A>C (p.Met386Leu) | |
| 1 | g.99891303A>G | CA341325199 | AGL | c.2896A>G (p.Met966Val) n.3107A>G c.2848A>G (p.Met950Val) c.2845A>G (p.Met949Val) c.1156A>G (p.Met386Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891303A>T | CA966927 | AGL | c.2896A>T (p.Met966Leu) n.3107A>T c.2848A>T (p.Met950Leu) c.2845A>T (p.Met949Leu) c.1156A>T (p.Met386Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891304T>A | CA341325201 | AGL | c.2897T>A (p.Met966Lys) n.3108T>A c.2849T>A (p.Met950Lys) c.2846T>A (p.Met949Lys) c.1157T>A (p.Met386Lys) | |
| 1 | g.99891304T>C | CA27526429 | AGL | c.2897T>C (p.Met966Thr) n.3108T>C c.2849T>C (p.Met950Thr) c.2846T>C (p.Met949Thr) c.1157T>C (p.Met386Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891304T>G | CA341325202 | AGL | c.2897T>G (p.Met966Arg) n.3108T>G c.2849T>G (p.Met950Arg) c.2846T>G (p.Met949Arg) c.1157T>G (p.Met386Arg) | |
| 1 | g.99891304T= | CA1144200094 | AGL | c.2897T= (p.Met966=) n.3108T= c.2849T= (p.Met950=) c.2846T= (p.Met949=) c.1157T= (p.Met386=) | |
| 1 | g.99891305G>A | CA341325205 | AGL | c.2898G>A (p.Met966Ile) n.3109G>A c.2850G>A (p.Met950Ile) c.2847G>A (p.Met949Ile) c.1158G>A (p.Met386Ile) | dbSNP |
| 1 | g.99891305G>C | CA341325206 | AGL | c.2898G>C (p.Met966Ile) n.3109G>C c.2850G>C (p.Met950Ile) c.2847G>C (p.Met949Ile) c.1158G>C (p.Met386Ile) | |
| 1 | g.99891305G= | CA1183933233 | AGL | c.2898G= (p.Met966=) n.3109G= c.2850G= (p.Met950=) c.2847G= (p.Met949=) c.1158G= (p.Met386=) | |
| 1 | g.99891305G>T | CA341325208 | AGL | c.2898G>T (p.Met966Ile) n.3109G>T c.2850G>T (p.Met950Ile) c.2847G>T (p.Met949Ile) c.1158G>T (p.Met386Ile) | |
| 1 | g.99891306A>C | CA341325210 | AGL | c.2899A>C (p.Ile967Leu) n.3110A>C c.2851A>C (p.Ile951Leu) c.2848A>C (p.Ile950Leu) c.1159A>C (p.Ile387Leu) | |
| 1 | g.99891306A>G | CA341325211 | AGL | c.2899A>G (p.Ile967Val) n.3110A>G c.2851A>G (p.Ile951Val) c.2848A>G (p.Ile950Val) c.1159A>G (p.Ile387Val) | gnomAD v4 |
| 1 | g.99891306A>T | CA341325213 | AGL | c.2899A>T (p.Ile967Phe) n.3110A>T c.2851A>T (p.Ile951Phe) c.2848A>T (p.Ile950Phe) c.1159A>T (p.Ile387Phe) | |
| 1 | g.99891307T>A | CA341325218 | AGL | c.2900T>A (p.Ile967Asn) n.3111T>A c.2852T>A (p.Ile951Asn) c.2849T>A (p.Ile950Asn) c.1160T>A (p.Ile387Asn) | |
| 1 | g.99891307T>C | CA341325215 | AGL | c.2900T>C (p.Ile967Thr) n.3111T>C c.2852T>C (p.Ile951Thr) c.2849T>C (p.Ile950Thr) c.1160T>C (p.Ile387Thr) | dbSNP |
| 1 | g.99891307T>G | CA341325216 | AGL | c.2900T>G (p.Ile967Ser) n.3111T>G c.2852T>G (p.Ile951Ser) c.2849T>G (p.Ile950Ser) c.1160T>G (p.Ile387Ser) | |
| 1 | g.99891307T= | CA1183933234 | AGL | c.2900T= (p.Ile967=) n.3111T= c.2852T= (p.Ile951=) c.2849T= (p.Ile950=) c.1160T= (p.Ile387=) | |
| 1 | g.99891308T>A | CA419314478 | AGL | c.2901T>A (p.Ile967=) n.3112T>A c.2853T>A (p.Ile951=) c.2850T>A (p.Ile950=) c.1161T>A (p.Ile387=) | |
| 1 | g.99891308T>C | CA419314479 | AGL | c.2901T>C (p.Ile967=) n.3112T>C c.2853T>C (p.Ile951=) c.2850T>C (p.Ile950=) c.1161T>C (p.Ile387=) | |
| 1 | g.99891308T>G | CA341325219 | AGL | c.2901T>G (p.Ile967Met) n.3112T>G c.2853T>G (p.Ile951Met) c.2850T>G (p.Ile950Met) c.1161T>G (p.Ile387Met) | |
| 1 | g.99891309G>A | CA341325220 | AGL | c.2902G>A (p.Asp968Asn) n.3113G>A c.2854G>A (p.Asp952Asn) c.2851G>A (p.Asp951Asn) c.1162G>A (p.Asp388Asn) | |
| 1 | g.99891309G>C | CA341325221 | AGL | c.2902G>C (p.Asp968His) n.3113G>C c.2854G>C (p.Asp952His) c.2851G>C (p.Asp951His) c.1162G>C (p.Asp388His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891309G= | CA1183933235 | AGL | c.2902G= (p.Asp968=) n.3113G= c.2854G= (p.Asp952=) c.2851G= (p.Asp951=) c.1162G= (p.Asp388=) | |
| 1 | g.99891309G>T | CA341325222 | AGL | c.2902G>T (p.Asp968Tyr) n.3113G>T c.2854G>T (p.Asp952Tyr) c.2851G>T (p.Asp951Tyr) c.1162G>T (p.Asp388Tyr) | |
| 1 | g.99891310A= | CA1183933236 | AGL | c.2903A= (p.Asp968=) n.3114A= c.2855A= (p.Asp952=) c.2852A= (p.Asp951=) c.1163A= (p.Asp388=) | |
| 1 | g.99891310A>C | CA341325225 | AGL | c.2903A>C (p.Asp968Ala) n.3114A>C c.2855A>C (p.Asp952Ala) c.2852A>C (p.Asp951Ala) c.1163A>C (p.Asp388Ala) | |
| 1 | g.99891310A>G | CA341325226 | AGL | c.2903A>G (p.Asp968Gly) n.3114A>G c.2855A>G (p.Asp952Gly) c.2852A>G (p.Asp951Gly) c.1163A>G (p.Asp388Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891310A>T | CA341325229 | AGL | c.2903A>T (p.Asp968Val) n.3114A>T c.2855A>T (p.Asp952Val) c.2852A>T (p.Asp951Val) c.1163A>T (p.Asp388Val) | |
| 1 | g.99891311_99891313del | CA913046824 | AGL | c.2904_2906del (p.Tyr969del) n.3115_3117del c.2856_2858del (p.Tyr953del) c.2853_2855del (p.Tyr952del) c.1164_1166del (p.Tyr389del) | |
| 1 | g.99891311C>A | CA341325230 | AGL | c.2904C>A (p.Asp968Glu) n.3115C>A c.2856C>A (p.Asp952Glu) c.2853C>A (p.Asp951Glu) c.1164C>A (p.Asp388Glu) | |
| 1 | g.99891311C= | CA1183933237 | AGL | c.2904C= (p.Asp968=) n.3115C= c.2856C= (p.Asp952=) c.2853C= (p.Asp951=) c.1164C= (p.Asp388=) | |
| 1 | g.99891311C>G | CA341325231 | AGL | c.2904C>G (p.Asp968Glu) n.3115C>G c.2856C>G (p.Asp952Glu) c.2853C>G (p.Asp951Glu) c.1164C>G (p.Asp388Glu) | |
| 1 | g.99891311C>T | CA966928 | AGL | c.2904C>T (p.Asp968=) n.3115C>T c.2856C>T (p.Asp952=) c.2853C>T (p.Asp951=) c.1164C>T (p.Asp388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891311_99891313delinsCTA | CA1183933238 | AGL | c.2904_2906delinsCTA (p.Asp968=) n.3115_3117delinsCTA c.2856_2858delinsCTA (p.Asp952=) c.2853_2855delinsCTA (p.Asp951=) c.1164_1166delinsCTA (p.Asp388=) | |
| 1 | g.99891312T>A | CA341325235 | AGL | c.2905T>A (p.Tyr969Asn) n.3116T>A c.2857T>A (p.Tyr953Asn) c.2854T>A (p.Tyr952Asn) c.1165T>A (p.Tyr389Asn) | |
| 1 | g.99891312T>C | CA341325234 | AGL | c.2905T>C (p.Tyr969His) n.3116T>C c.2857T>C (p.Tyr953His) c.2854T>C (p.Tyr952His) c.1165T>C (p.Tyr389His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891312T>G | CA341325232 | AGL | c.2905T>G (p.Tyr969Asp) n.3116T>G c.2857T>G (p.Tyr953Asp) c.2854T>G (p.Tyr952Asp) c.1165T>G (p.Tyr389Asp) | |
| 1 | g.99891312T= | CA1183933239 | AGL | c.2905T= (p.Tyr969=) n.3116T= c.2857T= (p.Tyr953=) c.2854T= (p.Tyr952=) c.1165T= (p.Tyr389=) | |
| 1 | g.99891312dup | CA916082078 | AGL | c.2905dup (p.Tyr969LeufsTer4) n.3116dup c.2857dup (p.Tyr953LeufsTer4) c.2854dup (p.Tyr952LeufsTer4) c.1165dup (p.Tyr389LeufsTer4) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99891313_99891314del | CA658821114 | AGL | c.2906_2907del (p.Tyr969CysfsTer3) n.3117_3118del c.2858_2859del (p.Tyr953CysfsTer3) c.2855_2856del (p.Tyr952CysfsTer3) c.1166_1167del (p.Tyr389CysfsTer3) | ClinVar dbSNP |
| 1 | g.99891313A= | CA1183933240 | AGL | c.2906A= (p.Tyr969=) n.3117A= c.2858A= (p.Tyr953=) c.2855A= (p.Tyr952=) c.1166A= (p.Tyr389=) | |
| 1 | g.99891313A>C | CA341325237 | AGL | c.2906A>C (p.Tyr969Ser) n.3117A>C c.2858A>C (p.Tyr953Ser) c.2855A>C (p.Tyr952Ser) c.1166A>C (p.Tyr389Ser) | |
| 1 | g.99891313A>G | CA341325239 | AGL | c.2906A>G (p.Tyr969Cys) n.3117A>G c.2858A>G (p.Tyr953Cys) c.2855A>G (p.Tyr952Cys) c.1166A>G (p.Tyr389Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891313A>T | CA341325240 | AGL | c.2906A>T (p.Tyr969Phe) n.3117A>T c.2858A>T (p.Tyr953Phe) c.2855A>T (p.Tyr952Phe) c.1166A>T (p.Tyr389Phe) | |
| 1 | g.99891314T>A | CA341325242 | AGL | c.2907T>A (p.Tyr969Ter) n.3118T>A c.2859T>A (p.Tyr953Ter) c.2856T>A (p.Tyr952Ter) c.1167T>A (p.Tyr389Ter) | |
| 1 | g.99891314T>C | CA419314480 | AGL | c.2907T>C (p.Tyr969=) n.3118T>C c.2859T>C (p.Tyr953=) c.2856T>C (p.Tyr952=) c.1167T>C (p.Tyr389=) | |
| 1 | g.99891314T>G | CA341325244 | AGL | c.2907T>G (p.Tyr969Ter) n.3118T>G c.2859T>G (p.Tyr953Ter) c.2856T>G (p.Tyr952Ter) c.1167T>G (p.Tyr389Ter) | |
| 1 | g.99891315G>A | CA341325249 | AGL | c.2908G>A (p.Val970Ile) n.3119G>A c.2860G>A (p.Val954Ile) c.2857G>A (p.Val953Ile) c.1168G>A (p.Val390Ile) | gnomAD v4 |
| 1 | g.99891315G>C | CA341325248 | AGL | c.2908G>C (p.Val970Leu) n.3119G>C c.2860G>C (p.Val954Leu) c.2857G>C (p.Val953Leu) c.1168G>C (p.Val390Leu) | |
| 1 | g.99891315G>T | CA341325246 | AGL | c.2908G>T (p.Val970Phe) n.3119G>T c.2860G>T (p.Val954Phe) c.2857G>T (p.Val953Phe) c.1168G>T (p.Val390Phe) | ClinVar |
| 1 | g.99891316T>A | CA341325251 | AGL | c.2909T>A (p.Val970Asp) n.3120T>A c.2861T>A (p.Val954Asp) c.2858T>A (p.Val953Asp) c.1169T>A (p.Val390Asp) | |
| 1 | g.99891316T>C | CA341325253 | AGL | c.2909T>C (p.Val970Ala) n.3120T>C c.2861T>C (p.Val954Ala) c.2858T>C (p.Val953Ala) c.1169T>C (p.Val390Ala) | ClinVar dbSNP |
| 1 | g.99891316T>G | CA341325255 | AGL | c.2909T>G (p.Val970Gly) n.3120T>G c.2861T>G (p.Val954Gly) c.2858T>G (p.Val953Gly) c.1169T>G (p.Val390Gly) | |
| 1 | g.99891316T= | CA1183933241 | AGL | c.2909T= (p.Val970=) n.3120T= c.2861T= (p.Val954=) c.2858T= (p.Val953=) c.1169T= (p.Val390=) | |
| 1 | g.99891317C>A | CA419314481 | AGL | c.2910C>A (p.Val970=) n.3121C>A c.2862C>A (p.Val954=) c.2859C>A (p.Val953=) c.1170C>A (p.Val390=) | |
| 1 | g.99891317C>G | CA419314482 | AGL | c.2910C>G (p.Val970=) n.3121C>G c.2862C>G (p.Val954=) c.2859C>G (p.Val953=) c.1170C>G (p.Val390=) | |
| 1 | g.99891317C>T | CA419314483 | AGL | c.2910C>T (p.Val970=) n.3121C>T c.2862C>T (p.Val954=) c.2859C>T (p.Val953=) c.1170C>T (p.Val390=) | ClinVar gnomAD v4 |
| 1 | g.99891318A= | CA1183933242 | AGL | c.2911A= (p.Ser971=) n.3122A= c.2863A= (p.Ser955=) c.2860A= (p.Ser954=) c.1171A= (p.Ser391=) | |
| 1 | g.99891318A>C | CA341325257 | AGL | c.2911A>C (p.Ser971Arg) n.3122A>C c.2863A>C (p.Ser955Arg) c.2860A>C (p.Ser954Arg) c.1171A>C (p.Ser391Arg) | |
| 1 | g.99891318A>G | CA341325258 | AGL | c.2911A>G (p.Ser971Gly) n.3122A>G c.2863A>G (p.Ser955Gly) c.2860A>G (p.Ser954Gly) c.1171A>G (p.Ser391Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891318A>T | CA341325260 | AGL | c.2911A>T (p.Ser971Cys) n.3122A>T c.2863A>T (p.Ser955Cys) c.2860A>T (p.Ser954Cys) c.1171A>T (p.Ser391Cys) | |
| 1 | g.99891319G>A | CA341325266 | AGL | c.2912G>A (p.Ser971Asn) n.3123G>A c.2864G>A (p.Ser955Asn) c.2861G>A (p.Ser954Asn) c.1172G>A (p.Ser391Asn) | |
| 1 | g.99891319G>C | CA341325262 | AGL | c.2912G>C (p.Ser971Thr) n.3123G>C c.2864G>C (p.Ser955Thr) c.2861G>C (p.Ser954Thr) c.1172G>C (p.Ser391Thr) | dbSNP |
| 1 | g.99891319G= | CA1183933243 | AGL | c.2912G= (p.Ser971=) n.3123G= c.2864G= (p.Ser955=) c.2861G= (p.Ser954=) c.1172G= (p.Ser391=) | |
| 1 | g.99891319G>T | CA341325264 | AGL | c.2912G>T (p.Ser971Ile) n.3123G>T c.2864G>T (p.Ser955Ile) c.2861G>T (p.Ser954Ile) c.1172G>T (p.Ser391Ile) | |
| 1 | g.99891320T>A | CA341325267 | AGL | c.2913T>A (p.Ser971Arg) n.3124T>A c.2865T>A (p.Ser955Arg) c.2862T>A (p.Ser954Arg) c.1173T>A (p.Ser391Arg) | |
| 1 | g.99891320T>C | CA419314484 | AGL | c.2913T>C (p.Ser971=) n.3124T>C c.2865T>C (p.Ser955=) c.2862T>C (p.Ser954=) c.1173T>C (p.Ser391=) | |
| 1 | g.99891320T>G | CA341325268 | AGL | c.2913T>G (p.Ser971Arg) n.3124T>G c.2865T>G (p.Ser955Arg) c.2862T>G (p.Ser954Arg) c.1173T>G (p.Ser391Arg) | |
| 1 | g.99891321A>C | CA341325270 | AGL | c.2914A>C (p.Asn972His) n.3125A>C c.2866A>C (p.Asn956His) c.2863A>C (p.Asn955His) c.1174A>C (p.Asn392His) | |
| 1 | g.99891321A>G | CA341325272 | AGL | c.2914A>G (p.Asn972Asp) n.3125A>G c.2866A>G (p.Asn956Asp) c.2863A>G (p.Asn955Asp) c.1174A>G (p.Asn392Asp) | |
| 1 | g.99891321A>T | CA341325273 | AGL | c.2914A>T (p.Asn972Tyr) n.3125A>T c.2866A>T (p.Asn956Tyr) c.2863A>T (p.Asn955Tyr) c.1174A>T (p.Asn392Tyr) | |
| 1 | g.99891321_99891322del | CA2586967003 | AGL | c.2914_2915del (p.Asn972ProfsTer11) n.3125_3126del c.2866_2867del (p.Asn956ProfsTer11) c.2863_2864del (p.Asn955ProfsTer11) c.1174_1175del (p.Asn392ProfsTer11) | |
| 1 | g.99891322A>C | CA341325274 | AGL | c.2915A>C (p.Asn972Thr) n.3126A>C c.2867A>C (p.Asn956Thr) c.2864A>C (p.Asn955Thr) c.1175A>C (p.Asn392Thr) | |
| 1 | g.99891322A>G | CA341325275 | AGL | c.2915A>G (p.Asn972Ser) n.3126A>G c.2867A>G (p.Asn956Ser) c.2864A>G (p.Asn955Ser) c.1175A>G (p.Asn392Ser) | gnomAD v4 |
| 1 | g.99891322A>T | CA341325276 | AGL | c.2915A>T (p.Asn972Ile) n.3126A>T c.2867A>T (p.Asn956Ile) c.2864A>T (p.Asn955Ile) c.1175A>T (p.Asn392Ile) | |
| 1 | g.99891323C>A | CA341325278 | AGL | c.2916C>A (p.Asn972Lys) n.3127C>A c.2868C>A (p.Asn956Lys) c.2865C>A (p.Asn955Lys) c.1176C>A (p.Asn392Lys) | |
| 1 | g.99891323C= | CA1183933244 | AGL | c.2916C= (p.Asn972=) n.3127C= c.2868C= (p.Asn956=) c.2865C= (p.Asn955=) c.1176C= (p.Asn392=) | |
| 1 | g.99891323C>G | CA341325280 | AGL | c.2916C>G (p.Asn972Lys) n.3127C>G c.2868C>G (p.Asn956Lys) c.2865C>G (p.Asn955Lys) c.1176C>G (p.Asn392Lys) | |
| 1 | g.99891323C>T | CA419314485 | AGL | c.2916C>T (p.Asn972=) n.3127C>T c.2868C>T (p.Asn956=) c.2865C>T (p.Asn955=) c.1176C>T (p.Asn392=) | ClinVar dbSNP |
| 1 | g.99891324C>A | CA419314486 | AGL | c.2917C>A (p.Arg973=) n.3128C>A c.2869C>A (p.Arg957=) c.2866C>A (p.Arg956=) c.1177C>A (p.Arg393=) | ClinVar |
| 1 | g.99891324C= | CA1143752519 | AGL | c.2917C= (p.Arg973=) n.3128C= c.2869C= (p.Arg957=) c.2866C= (p.Arg956=) c.1177C= (p.Arg393=) | |
| 1 | g.99891324C>G | CA341325282 | AGL | c.2917C>G (p.Arg973Gly) n.3128C>G c.2869C>G (p.Arg957Gly) c.2866C>G (p.Arg956Gly) c.1177C>G (p.Arg393Gly) | |
| 1 | g.99891324C>T | CA966929 | AGL | c.2917C>T (p.Arg973Trp) n.3128C>T c.2869C>T (p.Arg957Trp) c.2866C>T (p.Arg956Trp) c.1177C>T (p.Arg393Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.99891325G>A | CA27526433 | AGL | c.2918G>A (p.Arg973Gln) n.3129G>A c.2870G>A (p.Arg957Gln) c.2867G>A (p.Arg956Gln) c.1178G>A (p.Arg393Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.99891325G>C | CA341325288 | AGL | c.2918G>C (p.Arg973Pro) n.3129G>C c.2870G>C (p.Arg957Pro) c.2867G>C (p.Arg956Pro) c.1178G>C (p.Arg393Pro) | |
| 1 | g.99891325G= | CA1183933245 | AGL | c.2918G= (p.Arg973=) n.3129G= c.2870G= (p.Arg957=) c.2867G= (p.Arg956=) c.1178G= (p.Arg393=) | |
| 1 | g.99891325G>T | CA341325285 | AGL | c.2918G>T (p.Arg973Leu) n.3129G>T c.2870G>T (p.Arg957Leu) c.2867G>T (p.Arg956Leu) c.1178G>T (p.Arg393Leu) | |
| 1 | g.99891326G>A | CA419314487 | AGL | c.2919G>A (p.Arg973=) n.3130G>A c.2871G>A (p.Arg957=) c.2868G>A (p.Arg956=) c.1179G>A (p.Arg393=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.99891326G>C | CA419314488 | AGL | c.2919G>C (p.Arg973=) n.3130G>C c.2871G>C (p.Arg957=) c.2868G>C (p.Arg956=) c.1179G>C (p.Arg393=) | |
| 1 | g.99891326G= | CA1183933246 | AGL | c.2919G= (p.Arg973=) n.3130G= c.2871G= (p.Arg957=) c.2868G= (p.Arg956=) c.1179G= (p.Arg393=) | |
| 1 | g.99891326G>T | CA419314489 | AGL | c.2919G>T (p.Arg973=) n.3130G>T c.2871G>T (p.Arg957=) c.2868G>T (p.Arg956=) c.1179G>T (p.Arg393=) | ClinVar |
| 1 | g.99891327C>A | CA341325291 | AGL | c.2920C>A (p.Leu974Ile) n.3131C>A c.2872C>A (p.Leu958Ile) c.2869C>A (p.Leu957Ile) c.1180C>A (p.Leu394Ile) | |
| 1 | g.99891327C= | CA1183933247 | AGL | c.2920C= (p.Leu974=) n.3131C= c.2872C= (p.Leu958=) c.2869C= (p.Leu957=) c.1180C= (p.Leu394=) | |
| 1 | g.99891327C>G | CA341325292 | AGL | c.2920C>G (p.Leu974Val) n.3131C>G c.2872C>G (p.Leu958Val) c.2869C>G (p.Leu957Val) c.1180C>G (p.Leu394Val) | |
| 1 | g.99891327C>T | CA966930 | AGL | c.2920C>T (p.Leu974Phe) n.3131C>T c.2872C>T (p.Leu958Phe) c.2869C>T (p.Leu957Phe) c.1180C>T (p.Leu394Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891328T>A | CA341325297 | AGL | c.2921T>A (p.Leu974His) n.3132T>A c.2873T>A (p.Leu958His) c.2870T>A (p.Leu957His) c.1181T>A (p.Leu394His) | |
| 1 | g.99891328T>C | CA341325298 | AGL | c.2921T>C (p.Leu974Pro) n.3132T>C c.2873T>C (p.Leu958Pro) c.2870T>C (p.Leu957Pro) c.1181T>C (p.Leu394Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891328T>G | CA341325305 | AGL | c.2921T>G (p.Leu974Arg) n.3132T>G c.2873T>G (p.Leu958Arg) c.2870T>G (p.Leu957Arg) c.1181T>G (p.Leu394Arg) | |
| 1 | g.99891328T= | CA1183933248 | AGL | c.2921T= (p.Leu974=) n.3132T= c.2873T= (p.Leu958=) c.2870T= (p.Leu957=) c.1181T= (p.Leu394=) | |
| 1 | g.99891329T>A | CA419314490 | AGL | c.2922T>A (p.Leu974=) n.3133T>A c.2874T>A (p.Leu958=) c.2871T>A (p.Leu957=) c.1182T>A (p.Leu394=) | |
| 1 | g.99891329T>C | CA419314491 | AGL | c.2922T>C (p.Leu974=) n.3133T>C c.2874T>C (p.Leu958=) c.2871T>C (p.Leu957=) c.1182T>C (p.Leu394=) | |
| 1 | g.99891329T>G | CA419314492 | AGL | c.2922T>G (p.Leu974=) n.3133T>G c.2874T>G (p.Leu958=) c.2871T>G (p.Leu957=) c.1182T>G (p.Leu394=) | |
| 1 | g.99891330A>C | CA341325308 | AGL | c.2923A>C (p.Ile975Leu) n.3134A>C c.2875A>C (p.Ile959Leu) c.2872A>C (p.Ile958Leu) c.1183A>C (p.Ile395Leu) | gnomAD v4 |
| 1 | g.99891330A>G | CA341325311 | AGL | c.2923A>G (p.Ile975Val) n.3134A>G c.2875A>G (p.Ile959Val) c.2872A>G (p.Ile958Val) c.1183A>G (p.Ile395Val) | |
| 1 | g.99891330A>T | CA341325313 | AGL | c.2923A>T (p.Ile975Phe) n.3134A>T c.2875A>T (p.Ile959Phe) c.2872A>T (p.Ile958Phe) c.1183A>T (p.Ile395Phe) | |
| 1 | g.99891331T>A | CA341325316 | AGL | c.2924T>A (p.Ile975Asn) n.3135T>A c.2876T>A (p.Ile959Asn) c.2873T>A (p.Ile958Asn) c.1184T>A (p.Ile395Asn) | |
| 1 | g.99891331T>C | CA341325318 | AGL | c.2924T>C (p.Ile975Thr) n.3135T>C c.2876T>C (p.Ile959Thr) c.2873T>C (p.Ile958Thr) c.1184T>C (p.Ile395Thr) | |
| 1 | g.99891331T>G | CA341325324 | AGL | c.2924T>G (p.Ile975Ser) n.3135T>G c.2876T>G (p.Ile959Ser) c.2873T>G (p.Ile958Ser) c.1184T>G (p.Ile395Ser) | |
| 1 | g.99891332_99891333dup | CA2586967004 | AGL | c.2925_2926dup (p.Ser976PhefsTer21) n.3136_3137dup c.2877_2878dup (p.Ser960PhefsTer21) c.2874_2875dup (p.Ser959PhefsTer21) c.1185_1186dup (p.Ser396PhefsTer21) | |
| 1 | g.99891332T>A | CA419314494 | AGL | c.2925T>A (p.Ile975=) n.3136T>A c.2877T>A (p.Ile959=) c.2874T>A (p.Ile958=) c.1185T>A (p.Ile395=) | |
| 1 | g.99891332T>C | CA419314493 | AGL | c.2925T>C (p.Ile975=) n.3136T>C c.2877T>C (p.Ile959=) c.2874T>C (p.Ile958=) c.1185T>C (p.Ile395=) | |
| 1 | g.99891332T>G | CA341325326 | AGL | c.2925T>G (p.Ile975Met) n.3136T>G c.2877T>G (p.Ile959Met) c.2874T>G (p.Ile958Met) c.1185T>G (p.Ile395Met) | |
| 1 | g.99891333T>A | CA341325331 | AGL | c.2926T>A (p.Ser976Thr) n.3137T>A c.2878T>A (p.Ser960Thr) c.2875T>A (p.Ser959Thr) c.1186T>A (p.Ser396Thr) | |
| 1 | g.99891333T>C | CA341325337 | AGL | c.2926T>C (p.Ser976Pro) n.3137T>C c.2878T>C (p.Ser960Pro) c.2875T>C (p.Ser959Pro) c.1186T>C (p.Ser396Pro) | |
| 1 | g.99891333T>G | CA341325336 | AGL | c.2926T>G (p.Ser976Ala) n.3137T>G c.2878T>G (p.Ser960Ala) c.2875T>G (p.Ser959Ala) c.1186T>G (p.Ser396Ala) | |
| 1 | g.99891334C>A | CA341325339 | AGL | c.2927C>A (p.Ser976Ter) n.3138C>A c.2879C>A (p.Ser960Ter) c.2876C>A (p.Ser959Ter) c.1187C>A (p.Ser396Ter) | |
| 1 | g.99891334C= | CA1183933249 | AGL | c.2927C= (p.Ser976=) n.3138C= c.2879C= (p.Ser960=) c.2876C= (p.Ser959=) c.1187C= (p.Ser396=) | |
| 1 | g.99891334C>G | CA341325340 | AGL | c.2927C>G (p.Ser976Ter) n.3138C>G c.2879C>G (p.Ser960Ter) c.2876C>G (p.Ser959Ter) c.1187C>G (p.Ser396Ter) | |
| 1 | g.99891334C>T | CA341325343 | AGL | c.2927C>T (p.Ser976Leu) n.3138C>T c.2879C>T (p.Ser960Leu) c.2876C>T (p.Ser959Leu) c.1187C>T (p.Ser396Leu) | dbSNP gnomAD v2 |
| 1 | g.99891335A>C | CA419314495 | AGL | c.2928A>C (p.Ser976=) n.3139A>C c.2880A>C (p.Ser960=) c.2877A>C (p.Ser959=) c.1188A>C (p.Ser396=) | |
| 1 | g.99891335A>G | CA419314496 | AGL | c.2928A>G (p.Ser976=) n.3139A>G c.2880A>G (p.Ser960=) c.2877A>G (p.Ser959=) c.1188A>G (p.Ser396=) | |
| 1 | g.99891335A>T | CA419314497 | AGL | c.2928A>T (p.Ser976=) n.3139A>T c.2880A>T (p.Ser960=) c.2877A>T (p.Ser959=) c.1188A>T (p.Ser396=) | |
| 1 | g.99891336C>A | CA419314498 | AGL | c.2929C>A (p.Arg977=) n.3140C>A c.2881C>A (p.Arg961=) c.2878C>A (p.Arg960=) c.1189C>A (p.Arg397=) | gnomAD v4 |
| 1 | g.99891336C= | CA1144552420 | AGL | c.2929C= (p.Arg977=) n.3140C= c.2881C= (p.Arg961=) c.2878C= (p.Arg960=) c.1189C= (p.Arg397=) | |
| 1 | g.99891336C>G | CA341325344 | AGL | c.2929C>G (p.Arg977Gly) n.3140C>G c.2881C>G (p.Arg961Gly) c.2878C>G (p.Arg960Gly) c.1189C>G (p.Arg397Gly) | gnomAD v4 |
| 1 | g.99891336C>T | CA16040839 | AGL | c.2929C>T (p.Arg977Ter) n.3140C>T c.2881C>T (p.Arg961Ter) c.2878C>T (p.Arg960Ter) c.1189C>T (p.Arg397Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |