| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99766902_99766904dup | CA2688067903 | VPS13B | c.7254_7256dup (p.Lys2419_Leu2420insLys) n.7324_7326dup c.*2936_*2938dup (n.*2936_*2938dup) c.7179_7181dup (p.Lys2394_Leu2395insLys) n.309_311dup c.7251_7253dup (p.Lys2418_Leu2419insLys) c.7176_7178dup (p.Lys2393_Leu2394insLys) c.6876_6878dup (p.Lys2293_Leu2294insLys) c.4140_4142dup (p.Lys1381_Leu1382insLys) c.3033_3035dup (p.Lys1012_Leu1013insLys) n.2065+3788_2065+3790dup c.7059_7061dup (p.Lys2354_Leu2355insLys) c.2811_2813dup (p.Lys938_Leu939insLys) c.6039_6041dup (p.Lys2014_Leu2015insLys) | gnomAD v4 |
| 8 | g.99766903A>C | CA371874404 | VPS13B | c.7255A>C (p.Lys2419Gln) n.7325A>C c.*2937A>C (n.*2937A>C) c.7180A>C (p.Lys2394Gln) n.310A>C c.7252A>C (p.Lys2418Gln) c.7177A>C (p.Lys2393Gln) c.6877A>C (p.Lys2293Gln) c.4141A>C (p.Lys1381Gln) c.3034A>C (p.Lys1012Gln) n.2065+3785T>G c.7060A>C (p.Lys2354Gln) c.2812A>C (p.Lys938Gln) c.6040A>C (p.Lys2014Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766903A>G | CA371874407 | VPS13B | c.7255A>G (p.Lys2419Glu) n.7325A>G c.*2937A>G (n.*2937A>G) c.7180A>G (p.Lys2394Glu) n.310A>G c.7252A>G (p.Lys2418Glu) c.7177A>G (p.Lys2393Glu) c.6877A>G (p.Lys2293Glu) c.4141A>G (p.Lys1381Glu) c.3034A>G (p.Lys1012Glu) n.2065+3785T>C c.7060A>G (p.Lys2354Glu) c.2812A>G (p.Lys938Glu) c.6040A>G (p.Lys2014Glu) | ClinVar |
| 8 | g.99766903A>T | CA16041251 | VPS13B | c.7255A>T (p.Lys2419Ter) n.7325A>T c.*2937A>T (n.*2937A>T) c.7180A>T (p.Lys2394Ter) n.310A>T c.7252A>T (p.Lys2418Ter) c.7177A>T (p.Lys2393Ter) c.6877A>T (p.Lys2293Ter) c.4141A>T (p.Lys1381Ter) c.3034A>T (p.Lys1012Ter) n.2065+3785T>A c.7060A>T (p.Lys2354Ter) c.2812A>T (p.Lys938Ter) c.6040A>T (p.Lys2014Ter) | ClinVar dbSNP |
| 8 | g.99766904A>C | CA371874414 | VPS13B | c.7256A>C (p.Lys2419Thr) n.7326A>C c.*2938A>C (n.*2938A>C) c.7181A>C (p.Lys2394Thr) n.311A>C c.7253A>C (p.Lys2418Thr) c.7178A>C (p.Lys2393Thr) c.6878A>C (p.Lys2293Thr) c.4142A>C (p.Lys1381Thr) c.3035A>C (p.Lys1012Thr) n.2065+3784T>G c.7061A>C (p.Lys2354Thr) c.2813A>C (p.Lys938Thr) c.6041A>C (p.Lys2014Thr) | |
| 8 | g.99766904A>G | CA371874415 | VPS13B | c.7256A>G (p.Lys2419Arg) n.7326A>G c.*2938A>G (n.*2938A>G) c.7181A>G (p.Lys2394Arg) n.311A>G c.7253A>G (p.Lys2418Arg) c.7178A>G (p.Lys2393Arg) c.6878A>G (p.Lys2293Arg) c.4142A>G (p.Lys1381Arg) c.3035A>G (p.Lys1012Arg) n.2065+3784T>C c.7061A>G (p.Lys2354Arg) c.2813A>G (p.Lys938Arg) c.6041A>G (p.Lys2014Arg) | |
| 8 | g.99766904A>T | CA371874416 | VPS13B | c.7256A>T (p.Lys2419Ile) n.7326A>T c.*2938A>T (n.*2938A>T) c.7181A>T (p.Lys2394Ile) n.311A>T c.7253A>T (p.Lys2418Ile) c.7178A>T (p.Lys2393Ile) c.6878A>T (p.Lys2293Ile) c.4142A>T (p.Lys1381Ile) c.3035A>T (p.Lys1012Ile) n.2065+3784T>A c.7061A>T (p.Lys2354Ile) c.2813A>T (p.Lys938Ile) c.6041A>T (p.Lys2014Ile) | |
| 8 | g.99766905A>C | CA371874417 | VPS13B | c.7257A>C (p.Lys2419Asn) n.7327A>C c.*2939A>C (n.*2939A>C) c.7182A>C (p.Lys2394Asn) n.312A>C c.7254A>C (p.Lys2418Asn) c.7179A>C (p.Lys2393Asn) c.6879A>C (p.Lys2293Asn) c.4143A>C (p.Lys1381Asn) c.3036A>C (p.Lys1012Asn) n.2065+3783T>G c.7062A>C (p.Lys2354Asn) c.2814A>C (p.Lys938Asn) c.6042A>C (p.Lys2014Asn) | |
| 8 | g.99766905A>G | CA462448990 | VPS13B | c.7257A>G (p.Lys2419=) n.7327A>G c.*2939A>G (n.*2939A>G) c.7182A>G (p.Lys2394=) n.312A>G c.7254A>G (p.Lys2418=) c.7179A>G (p.Lys2393=) c.6879A>G (p.Lys2293=) c.4143A>G (p.Lys1381=) c.3036A>G (p.Lys1012=) n.2065+3783T>C c.7062A>G (p.Lys2354=) c.2814A>G (p.Lys938=) c.6042A>G (p.Lys2014=) | |
| 8 | g.99766905A>T | CA371874418 | VPS13B | c.7257A>T (p.Lys2419Asn) n.7327A>T c.*2939A>T (n.*2939A>T) c.7182A>T (p.Lys2394Asn) n.312A>T c.7254A>T (p.Lys2418Asn) c.7179A>T (p.Lys2393Asn) c.6879A>T (p.Lys2293Asn) c.4143A>T (p.Lys1381Asn) c.3036A>T (p.Lys1012Asn) n.2065+3783T>A c.7062A>T (p.Lys2354Asn) c.2814A>T (p.Lys938Asn) c.6042A>T (p.Lys2014Asn) | |
| 8 | g.99766906T>A | CA371874419 | VPS13B | c.7258T>A (p.Leu2420Ile) n.7328T>A c.*2940T>A (n.*2940T>A) c.7183T>A (p.Leu2395Ile) n.313T>A c.7255T>A (p.Leu2419Ile) c.7180T>A (p.Leu2394Ile) c.6880T>A (p.Leu2294Ile) c.4144T>A (p.Leu1382Ile) c.3037T>A (p.Leu1013Ile) n.2065+3782A>T c.7063T>A (p.Leu2355Ile) c.2815T>A (p.Leu939Ile) c.6043T>A (p.Leu2015Ile) | gnomAD v4 |
| 8 | g.99766906T>C | CA462448991 | VPS13B | c.7258T>C (p.Leu2420=) n.7328T>C c.*2940T>C (n.*2940T>C) c.7183T>C (p.Leu2395=) n.313T>C c.7255T>C (p.Leu2419=) c.7180T>C (p.Leu2394=) c.6880T>C (p.Leu2294=) c.4144T>C (p.Leu1382=) c.3037T>C (p.Leu1013=) n.2065+3782A>G c.7063T>C (p.Leu2355=) c.2815T>C (p.Leu939=) c.6043T>C (p.Leu2015=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99766906T>G | CA371874420 | VPS13B | c.7258T>G (p.Leu2420Val) n.7328T>G c.*2940T>G (n.*2940T>G) c.7183T>G (p.Leu2395Val) n.313T>G c.7255T>G (p.Leu2419Val) c.7180T>G (p.Leu2394Val) c.6880T>G (p.Leu2294Val) c.4144T>G (p.Leu1382Val) c.3037T>G (p.Leu1013Val) n.2065+3782A>C c.7063T>G (p.Leu2355Val) c.2815T>G (p.Leu939Val) c.6043T>G (p.Leu2015Val) | |
| 8 | g.99766907T>A | CA371874421 | VPS13B | c.7259T>A (p.Leu2420Ter) n.7329T>A c.*2941T>A (n.*2941T>A) c.7184T>A (p.Leu2395Ter) n.314T>A c.7256T>A (p.Leu2419Ter) c.7181T>A (p.Leu2394Ter) c.6881T>A (p.Leu2294Ter) c.4145T>A (p.Leu1382Ter) c.3038T>A (p.Leu1013Ter) n.2065+3781A>T c.7064T>A (p.Leu2355Ter) c.2816T>A (p.Leu939Ter) c.6044T>A (p.Leu2015Ter) | |
| 8 | g.99766907T>C | CA371874422 | VPS13B | c.7259T>C (p.Leu2420Ser) n.7329T>C c.*2941T>C (n.*2941T>C) c.7184T>C (p.Leu2395Ser) n.314T>C c.7256T>C (p.Leu2419Ser) c.7181T>C (p.Leu2394Ser) c.6881T>C (p.Leu2294Ser) c.4145T>C (p.Leu1382Ser) c.3038T>C (p.Leu1013Ser) n.2065+3781A>G c.7064T>C (p.Leu2355Ser) c.2816T>C (p.Leu939Ser) c.6044T>C (p.Leu2015Ser) | |
| 8 | g.99766907T>G | CA371874423 | VPS13B | c.7259T>G (p.Leu2420Ter) n.7329T>G c.*2941T>G (n.*2941T>G) c.7184T>G (p.Leu2395Ter) n.314T>G c.7256T>G (p.Leu2419Ter) c.7181T>G (p.Leu2394Ter) c.6881T>G (p.Leu2294Ter) c.4145T>G (p.Leu1382Ter) c.3038T>G (p.Leu1013Ter) n.2065+3781A>C c.7064T>G (p.Leu2355Ter) c.2816T>G (p.Leu939Ter) c.6044T>G (p.Leu2015Ter) | ClinVar |
| 8 | g.99766907_99766908del | CA2695210050 | VPS13B | c.7259_7260del (p.Leu2420CysfsTer18) n.7329_7330del c.*2941_*2942del (n.*2941_*2942del) c.7184_7185del (p.Leu2395CysfsTer18) n.314_315del c.7256_7257del (p.Leu2419CysfsTer18) c.7181_7182del (p.Leu2394CysfsTer18) c.6881_6882del (p.Leu2294CysfsTer18) c.4145_4146del (p.Leu1382CysfsTer18) c.3038_3039del (p.Leu1013CysfsTer18) n.2065+3780_2065+3781del c.7064_7065del (p.Leu2355CysfsTer18) c.2816_2817del (p.Leu939CysfsTer18) c.6044_6045del (p.Leu2015CysfsTer18) | |
| 8 | g.99766908A>C | CA371874424 | VPS13B | c.7260A>C (p.Leu2420Phe) n.7330A>C c.*2942A>C (n.*2942A>C) c.7185A>C (p.Leu2395Phe) n.315A>C c.7257A>C (p.Leu2419Phe) c.7182A>C (p.Leu2394Phe) c.6882A>C (p.Leu2294Phe) c.4146A>C (p.Leu1382Phe) c.3039A>C (p.Leu1013Phe) n.2065+3780T>G c.7065A>C (p.Leu2355Phe) c.2817A>C (p.Leu939Phe) c.6045A>C (p.Leu2015Phe) | |
| 8 | g.99766908A>G | CA462448992 | VPS13B | c.7260A>G (p.Leu2420=) n.7330A>G c.*2942A>G (n.*2942A>G) c.7185A>G (p.Leu2395=) n.315A>G c.7257A>G (p.Leu2419=) c.7182A>G (p.Leu2394=) c.6882A>G (p.Leu2294=) c.4146A>G (p.Leu1382=) c.3039A>G (p.Leu1013=) n.2065+3780T>C c.7065A>G (p.Leu2355=) c.2817A>G (p.Leu939=) c.6045A>G (p.Leu2015=) | ClinVar |
| 8 | g.99766908A>T | CA371874425 | VPS13B | c.7260A>T (p.Leu2420Phe) n.7330A>T c.*2942A>T (n.*2942A>T) c.7185A>T (p.Leu2395Phe) n.315A>T c.7257A>T (p.Leu2419Phe) c.7182A>T (p.Leu2394Phe) c.6882A>T (p.Leu2294Phe) c.4146A>T (p.Leu1382Phe) c.3039A>T (p.Leu1013Phe) n.2065+3780T>A c.7065A>T (p.Leu2355Phe) c.2817A>T (p.Leu939Phe) c.6045A>T (p.Leu2015Phe) | |
| 8 | g.99766909G>A | CA371874427 | VPS13B | c.7261G>A (p.Val2421Ile) n.7331G>A c.*2943G>A (n.*2943G>A) c.7186G>A (p.Val2396Ile) n.316G>A c.7258G>A (p.Val2420Ile) c.7183G>A (p.Val2395Ile) c.6883G>A (p.Val2295Ile) c.4147G>A (p.Val1383Ile) c.3040G>A (p.Val1014Ile) n.2065+3779C>T c.7066G>A (p.Val2356Ile) c.2818G>A (p.Val940Ile) c.6046G>A (p.Val2016Ile) | ClinVar gnomAD v4 |
| 8 | g.99766909G>C | CA371874428 | VPS13B | c.7261G>C (p.Val2421Leu) n.7331G>C c.*2943G>C (n.*2943G>C) c.7186G>C (p.Val2396Leu) n.316G>C c.7258G>C (p.Val2420Leu) c.7183G>C (p.Val2395Leu) c.6883G>C (p.Val2295Leu) c.4147G>C (p.Val1383Leu) c.3040G>C (p.Val1014Leu) n.2065+3779C>G c.7066G>C (p.Val2356Leu) c.2818G>C (p.Val940Leu) c.6046G>C (p.Val2016Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99766909G>T | CA371874426 | VPS13B | c.7261G>T (p.Val2421Leu) n.7331G>T c.*2943G>T (n.*2943G>T) c.7186G>T (p.Val2396Leu) n.316G>T c.7258G>T (p.Val2420Leu) c.7183G>T (p.Val2395Leu) c.6883G>T (p.Val2295Leu) c.4147G>T (p.Val1383Leu) c.3040G>T (p.Val1014Leu) n.2065+3779C>A c.7066G>T (p.Val2356Leu) c.2818G>T (p.Val940Leu) c.6046G>T (p.Val2016Leu) | |
| 8 | g.99766910T>A | CA4824163 | VPS13B | c.7262T>A (p.Val2421Glu) n.7332T>A c.*2944T>A (n.*2944T>A) c.7187T>A (p.Val2396Glu) n.317T>A c.7259T>A (p.Val2420Glu) c.7184T>A (p.Val2395Glu) c.6884T>A (p.Val2295Glu) c.4148T>A (p.Val1383Glu) c.3041T>A (p.Val1014Glu) n.2065+3778A>T c.7067T>A (p.Val2356Glu) c.2819T>A (p.Val940Glu) c.6047T>A (p.Val2016Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99766910T>C | CA371874429 | VPS13B | c.7262T>C (p.Val2421Ala) n.7332T>C c.*2944T>C (n.*2944T>C) c.7187T>C (p.Val2396Ala) n.317T>C c.7259T>C (p.Val2420Ala) c.7184T>C (p.Val2395Ala) c.6884T>C (p.Val2295Ala) c.4148T>C (p.Val1383Ala) c.3041T>C (p.Val1014Ala) n.2065+3778A>G c.7067T>C (p.Val2356Ala) c.2819T>C (p.Val940Ala) c.6047T>C (p.Val2016Ala) | gnomAD v4 |
| 8 | g.99766910T>G | CA371874430 | VPS13B | c.7262T>G (p.Val2421Gly) n.7332T>G c.*2944T>G (n.*2944T>G) c.7187T>G (p.Val2396Gly) n.317T>G c.7259T>G (p.Val2420Gly) c.7184T>G (p.Val2395Gly) c.6884T>G (p.Val2295Gly) c.4148T>G (p.Val1383Gly) c.3041T>G (p.Val1014Gly) n.2065+3778A>C c.7067T>G (p.Val2356Gly) c.2819T>G (p.Val940Gly) c.6047T>G (p.Val2016Gly) | |
| 8 | g.99766911A>C | CA462448993 | VPS13B | c.7263A>C (p.Val2421=) n.7333A>C c.*2945A>C (n.*2945A>C) c.7188A>C (p.Val2396=) n.318A>C c.7260A>C (p.Val2420=) c.7185A>C (p.Val2395=) c.6885A>C (p.Val2295=) c.4149A>C (p.Val1383=) c.3042A>C (p.Val1014=) n.2065+3777T>G c.7068A>C (p.Val2356=) c.2820A>C (p.Val940=) c.6048A>C (p.Val2016=) | |
| 8 | g.99766911A>G | CA183039786 | VPS13B | c.7263A>G (p.Val2421=) n.7333A>G c.*2945A>G (n.*2945A>G) c.7188A>G (p.Val2396=) n.318A>G c.7260A>G (p.Val2420=) c.7185A>G (p.Val2395=) c.6885A>G (p.Val2295=) c.4149A>G (p.Val1383=) c.3042A>G (p.Val1014=) n.2065+3777T>C c.7068A>G (p.Val2356=) c.2820A>G (p.Val940=) c.6048A>G (p.Val2016=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99766911A>T | CA462448994 | VPS13B | c.7263A>T (p.Val2421=) n.7333A>T c.*2945A>T (n.*2945A>T) c.7188A>T (p.Val2396=) n.318A>T c.7260A>T (p.Val2420=) c.7185A>T (p.Val2395=) c.6885A>T (p.Val2295=) c.4149A>T (p.Val1383=) c.3042A>T (p.Val1014=) n.2065+3777T>A c.7068A>T (p.Val2356=) c.2820A>T (p.Val940=) c.6048A>T (p.Val2016=) | gnomAD v4 |
| 8 | g.99766912T>A | CA371874431 | VPS13B | c.7264T>A (p.Ser2422Thr) n.7334T>A c.*2946T>A (n.*2946T>A) c.7189T>A (p.Ser2397Thr) n.319T>A c.7261T>A (p.Ser2421Thr) c.7186T>A (p.Ser2396Thr) c.6886T>A (p.Ser2296Thr) c.4150T>A (p.Ser1384Thr) c.3043T>A (p.Ser1015Thr) n.2065+3776A>T c.7069T>A (p.Ser2357Thr) c.2821T>A (p.Ser941Thr) c.6049T>A (p.Ser2017Thr) | |
| 8 | g.99766912T>C | CA371874432 | VPS13B | c.7264T>C (p.Ser2422Pro) n.7334T>C c.*2946T>C (n.*2946T>C) c.7189T>C (p.Ser2397Pro) n.319T>C c.7261T>C (p.Ser2421Pro) c.7186T>C (p.Ser2396Pro) c.6886T>C (p.Ser2296Pro) c.4150T>C (p.Ser1384Pro) c.3043T>C (p.Ser1015Pro) n.2065+3776A>G c.7069T>C (p.Ser2357Pro) c.2821T>C (p.Ser941Pro) c.6049T>C (p.Ser2017Pro) | gnomAD v4 |
| 8 | g.99766912T>G | CA371874433 | VPS13B | c.7264T>G (p.Ser2422Ala) n.7334T>G c.*2946T>G (n.*2946T>G) c.7189T>G (p.Ser2397Ala) n.319T>G c.7261T>G (p.Ser2421Ala) c.7186T>G (p.Ser2396Ala) c.6886T>G (p.Ser2296Ala) c.4150T>G (p.Ser1384Ala) c.3043T>G (p.Ser1015Ala) n.2065+3776A>C c.7069T>G (p.Ser2357Ala) c.2821T>G (p.Ser941Ala) c.6049T>G (p.Ser2017Ala) | |
| 8 | g.99766913del | CA2697550070 | VPS13B | c.7265del (p.Ser2422PhefsTer9) n.7335del c.*2947del (n.*2947del) c.7190del (p.Ser2397PhefsTer9) n.320del c.7262del (p.Ser2421PhefsTer9) c.7187del (p.Ser2396PhefsTer9) c.6887del (p.Ser2296PhefsTer9) c.4151del (p.Ser1384PhefsTer9) c.3044del (p.Ser1015PhefsTer9) n.2065+3775del c.7070del (p.Ser2357PhefsTer9) c.2822del (p.Ser941PhefsTer9) c.6050del (p.Ser2017PhefsTer9) | ClinVar |
| 8 | g.99766913C>A | CA371874434 | VPS13B | c.7265C>A (p.Ser2422Tyr) n.7335C>A c.*2947C>A (n.*2947C>A) c.7190C>A (p.Ser2397Tyr) n.320C>A c.7262C>A (p.Ser2421Tyr) c.7187C>A (p.Ser2396Tyr) c.6887C>A (p.Ser2296Tyr) c.4151C>A (p.Ser1384Tyr) c.3044C>A (p.Ser1015Tyr) n.2065+3775G>T c.7070C>A (p.Ser2357Tyr) c.2822C>A (p.Ser941Tyr) c.6050C>A (p.Ser2017Tyr) | |
| 8 | g.99766913C>G | CA371874435 | VPS13B | c.7265C>G (p.Ser2422Cys) n.7335C>G c.*2947C>G (n.*2947C>G) c.7190C>G (p.Ser2397Cys) n.320C>G c.7262C>G (p.Ser2421Cys) c.7187C>G (p.Ser2396Cys) c.6887C>G (p.Ser2296Cys) c.4151C>G (p.Ser1384Cys) c.3044C>G (p.Ser1015Cys) n.2065+3775G>C c.7070C>G (p.Ser2357Cys) c.2822C>G (p.Ser941Cys) c.6050C>G (p.Ser2017Cys) | |
| 8 | g.99766913C>T | CA371874436 | VPS13B | c.7265C>T (p.Ser2422Phe) n.7335C>T c.*2947C>T (n.*2947C>T) c.7190C>T (p.Ser2397Phe) n.320C>T c.7262C>T (p.Ser2421Phe) c.7187C>T (p.Ser2396Phe) c.6887C>T (p.Ser2296Phe) c.4151C>T (p.Ser1384Phe) c.3044C>T (p.Ser1015Phe) n.2065+3775G>A c.7070C>T (p.Ser2357Phe) c.2822C>T (p.Ser941Phe) c.6050C>T (p.Ser2017Phe) | |
| 8 | g.99766914T>A | CA462448995 | VPS13B | c.7266T>A (p.Ser2422=) n.7336T>A c.*2948T>A (n.*2948T>A) c.7191T>A (p.Ser2397=) n.321T>A c.7263T>A (p.Ser2421=) c.7188T>A (p.Ser2396=) c.6888T>A (p.Ser2296=) c.4152T>A (p.Ser1384=) c.3045T>A (p.Ser1015=) n.2065+3774A>T c.7071T>A (p.Ser2357=) c.2823T>A (p.Ser941=) c.6051T>A (p.Ser2017=) | |
| 8 | g.99766914T>C | CA462448996 | VPS13B | c.7266T>C (p.Ser2422=) n.7336T>C c.*2948T>C (n.*2948T>C) c.7191T>C (p.Ser2397=) n.321T>C c.7263T>C (p.Ser2421=) c.7188T>C (p.Ser2396=) c.6888T>C (p.Ser2296=) c.4152T>C (p.Ser1384=) c.3045T>C (p.Ser1015=) n.2065+3774A>G c.7071T>C (p.Ser2357=) c.2823T>C (p.Ser941=) c.6051T>C (p.Ser2017=) | |
| 8 | g.99766914T>G | CA462448997 | VPS13B | c.7266T>G (p.Ser2422=) n.7336T>G c.*2948T>G (n.*2948T>G) c.7191T>G (p.Ser2397=) n.321T>G c.7263T>G (p.Ser2421=) c.7188T>G (p.Ser2396=) c.6888T>G (p.Ser2296=) c.4152T>G (p.Ser1384=) c.3045T>G (p.Ser1015=) n.2065+3774A>C c.7071T>G (p.Ser2357=) c.2823T>G (p.Ser941=) c.6051T>G (p.Ser2017=) | |
| 8 | g.99766914_99766915del | CA1139660678 | VPS13B | c.7266_7267del (p.Ser2423ArgfsTer15) n.7336_7337del c.*2948_*2949del (n.*2948_*2949del) c.7191_7192del (p.Ser2398ArgfsTer15) n.321_322del c.7263_7264del (p.Ser2422ArgfsTer15) c.7188_7189del (p.Ser2397ArgfsTer15) c.6888_6889del (p.Ser2297ArgfsTer15) c.4152_4153del (p.Ser1385ArgfsTer15) c.3045_3046del (p.Ser1016ArgfsTer15) n.2065+3773_2065+3774del c.7071_7072del (p.Ser2358ArgfsTer15) c.2823_2824del (p.Ser942ArgfsTer15) c.6051_6052del (p.Ser2018ArgfsTer15) | ClinVar dbSNP |
| 8 | g.99766915T>A | CA371874438 | VPS13B | c.7267T>A (p.Ser2423Thr) n.7337T>A c.*2949T>A (n.*2949T>A) c.7192T>A (p.Ser2398Thr) n.322T>A c.7264T>A (p.Ser2422Thr) c.7189T>A (p.Ser2397Thr) c.6889T>A (p.Ser2297Thr) c.4153T>A (p.Ser1385Thr) c.3046T>A (p.Ser1016Thr) n.2065+3773A>T c.7072T>A (p.Ser2358Thr) c.2824T>A (p.Ser942Thr) c.6052T>A (p.Ser2018Thr) | |
| 8 | g.99766915T>C | CA371874441 | VPS13B | c.7267T>C (p.Ser2423Pro) n.7337T>C c.*2949T>C (n.*2949T>C) c.7192T>C (p.Ser2398Pro) n.322T>C c.7264T>C (p.Ser2422Pro) c.7189T>C (p.Ser2397Pro) c.6889T>C (p.Ser2297Pro) c.4153T>C (p.Ser1385Pro) c.3046T>C (p.Ser1016Pro) n.2065+3773A>G c.7072T>C (p.Ser2358Pro) c.2824T>C (p.Ser942Pro) c.6052T>C (p.Ser2018Pro) | |
| 8 | g.99766915T>G | CA371874443 | VPS13B | c.7267T>G (p.Ser2423Ala) n.7337T>G c.*2949T>G (n.*2949T>G) c.7192T>G (p.Ser2398Ala) n.322T>G c.7264T>G (p.Ser2422Ala) c.7189T>G (p.Ser2397Ala) c.6889T>G (p.Ser2297Ala) c.4153T>G (p.Ser1385Ala) c.3046T>G (p.Ser1016Ala) n.2065+3773A>C c.7072T>G (p.Ser2358Ala) c.2824T>G (p.Ser942Ala) c.6052T>G (p.Ser2018Ala) | |
| 8 | g.99766916C>A | CA371874445 | VPS13B | c.7268C>A (p.Ser2423Ter) n.7338C>A c.*2950C>A (n.*2950C>A) c.7193C>A (p.Ser2398Ter) n.323C>A c.7265C>A (p.Ser2422Ter) c.7190C>A (p.Ser2397Ter) c.6890C>A (p.Ser2297Ter) c.4154C>A (p.Ser1385Ter) c.3047C>A (p.Ser1016Ter) n.2065+3772G>T c.7073C>A (p.Ser2358Ter) c.2825C>A (p.Ser942Ter) c.6053C>A (p.Ser2018Ter) | |
| 8 | g.99766916C>G | CA371874447 | VPS13B | c.7268C>G (p.Ser2423Ter) n.7338C>G c.*2950C>G (n.*2950C>G) c.7193C>G (p.Ser2398Ter) n.323C>G c.7265C>G (p.Ser2422Ter) c.7190C>G (p.Ser2397Ter) c.6890C>G (p.Ser2297Ter) c.4154C>G (p.Ser1385Ter) c.3047C>G (p.Ser1016Ter) n.2065+3772G>C c.7073C>G (p.Ser2358Ter) c.2825C>G (p.Ser942Ter) c.6053C>G (p.Ser2018Ter) | |
| 8 | g.99766916C>T | CA371874449 | VPS13B | c.7268C>T (p.Ser2423Leu) n.7338C>T c.*2950C>T (n.*2950C>T) c.7193C>T (p.Ser2398Leu) n.323C>T c.7265C>T (p.Ser2422Leu) c.7190C>T (p.Ser2397Leu) c.6890C>T (p.Ser2297Leu) c.4154C>T (p.Ser1385Leu) c.3047C>T (p.Ser1016Leu) n.2065+3772G>A c.7073C>T (p.Ser2358Leu) c.2825C>T (p.Ser942Leu) c.6053C>T (p.Ser2018Leu) | ClinVar gnomAD v4 |
| 8 | g.99766917A>C | CA462448998 | VPS13B | c.7269A>C (p.Ser2423=) n.7339A>C c.*2951A>C (n.*2951A>C) c.7194A>C (p.Ser2398=) n.324A>C c.7266A>C (p.Ser2422=) c.7191A>C (p.Ser2397=) c.6891A>C (p.Ser2297=) c.4155A>C (p.Ser1385=) c.3048A>C (p.Ser1016=) n.2065+3771T>G c.7074A>C (p.Ser2358=) c.2826A>C (p.Ser942=) c.6054A>C (p.Ser2018=) | |
| 8 | g.99766917A>G | CA183039789 | VPS13B | c.7269A>G (p.Ser2423=) n.7339A>G c.*2951A>G (n.*2951A>G) c.7194A>G (p.Ser2398=) n.324A>G c.7266A>G (p.Ser2422=) c.7191A>G (p.Ser2397=) c.6891A>G (p.Ser2297=) c.4155A>G (p.Ser1385=) c.3048A>G (p.Ser1016=) n.2065+3771T>C c.7074A>G (p.Ser2358=) c.2826A>G (p.Ser942=) c.6054A>G (p.Ser2018=) | dbSNP |
| 8 | g.99766917A>T | CA462448999 | VPS13B | c.7269A>T (p.Ser2423=) n.7339A>T c.*2951A>T (n.*2951A>T) c.7194A>T (p.Ser2398=) n.324A>T c.7266A>T (p.Ser2422=) c.7191A>T (p.Ser2397=) c.6891A>T (p.Ser2297=) c.4155A>T (p.Ser1385=) c.3048A>T (p.Ser1016=) n.2065+3771T>A c.7074A>T (p.Ser2358=) c.2826A>T (p.Ser942=) c.6054A>T (p.Ser2018=) | |
| 8 | g.99766918_99766919dup | CA584327772 | VPS13B | c.7270_7271dup (p.Asp2424GlufsTer8) n.7340_7341dup c.*2952_*2953dup (n.*2952_*2953dup) c.7195_7196dup (p.Asp2399GlufsTer8) n.325_326dup c.7267_7268dup (p.Asp2423GlufsTer8) c.7192_7193dup (p.Asp2398GlufsTer8) c.6892_6893dup (p.Asp2298GlufsTer8) c.4156_4157dup (p.Asp1386GlufsTer8) c.3049_3050dup (p.Asp1017GlufsTer8) n.2065+3770_2065+3771dup c.7075_7076dup (p.Asp2359GlufsTer8) c.2827_2828dup (p.Asp943GlufsTer8) c.6055_6056dup (p.Asp2019GlufsTer8) | dbSNP gnomAD v2 gnomAD v4 |