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 |
|---|---|---|---|---|---|
| 8 | g.99769013_99776930del | CA1139660679 | VPS13B | c.7322+2043_7478del n.7392+2043_7548del c.*3004+2043_*3160del c.7247+2043_7403del n.377+2043_378-1752del c.7319+2043_7475del c.7244+2043_7400del c.6944+2043_7100del c.4208+2043_4364del c.3101+2043_3257del n.1830+5550_2065+1677del c.7127+2043_7283del c.2879+2043_3035del c.6107+2043_6263del | ClinVar |
| 8 | g.99776898_99776901del | CA857581703 | VPS13B | c.7446_7449del (p.Phe2483SerfsTer16) n.7516_7519del c.*3128_*3131del (n.*3128_*3131del) c.7371_7374del (p.Phe2458SerfsTer16) n.378-1784_378-1781del c.7443_7446del (p.Phe2482SerfsTer16) c.7368_7371del (p.Phe2457SerfsTer16) c.7068_7071del (p.Phe2357SerfsTer16) c.4332_4335del (p.Phe1445SerfsTer16) c.3225_3228del (p.Phe1076SerfsTer16) n.1830+5581_1830+5584del c.7251_7254del (p.Phe2418SerfsTer16) c.3003_3006del (p.Phe1002SerfsTer16) c.6231_6234del (p.Phe2078SerfsTer16) | dbSNP |
| 8 | g.99776901C>A | CA371875798 | VPS13B | c.7449C>A (p.Phe2483Leu) n.7519C>A c.*3131C>A (n.*3131C>A) c.7374C>A (p.Phe2458Leu) n.378-1781C>A c.7446C>A (p.Phe2482Leu) c.7371C>A (p.Phe2457Leu) c.7071C>A (p.Phe2357Leu) c.4335C>A (p.Phe1445Leu) c.3228C>A (p.Phe1076Leu) n.1830+5577G>T c.7254C>A (p.Phe2418Leu) c.3006C>A (p.Phe1002Leu) c.6234C>A (p.Phe2078Leu) | |
| 8 | g.99776901C>G | CA371875797 | VPS13B | c.7449C>G (p.Phe2483Leu) n.7519C>G c.*3131C>G (n.*3131C>G) c.7374C>G (p.Phe2458Leu) n.378-1781C>G c.7446C>G (p.Phe2482Leu) c.7371C>G (p.Phe2457Leu) c.7071C>G (p.Phe2357Leu) c.4335C>G (p.Phe1445Leu) c.3228C>G (p.Phe1076Leu) n.1830+5577G>C c.7254C>G (p.Phe2418Leu) c.3006C>G (p.Phe1002Leu) c.6234C>G (p.Phe2078Leu) | |
| 8 | g.99776901C>T | CA462449218 | VPS13B | c.7449C>T (p.Phe2483=) n.7519C>T c.*3131C>T (n.*3131C>T) c.7374C>T (p.Phe2458=) n.378-1781C>T c.7446C>T (p.Phe2482=) c.7371C>T (p.Phe2457=) c.7071C>T (p.Phe2357=) c.4335C>T (p.Phe1445=) c.3228C>T (p.Phe1076=) n.1830+5577G>A c.7254C>T (p.Phe2418=) c.3006C>T (p.Phe1002=) c.6234C>T (p.Phe2078=) | ClinVar gnomAD v4 |
| 8 | g.99776902C>A | CA371875799 | VPS13B | c.7450C>A (p.Gln2484Lys) n.7520C>A c.*3132C>A (n.*3132C>A) c.7375C>A (p.Gln2459Lys) n.378-1780C>A c.7447C>A (p.Gln2483Lys) c.7372C>A (p.Gln2458Lys) c.7072C>A (p.Gln2358Lys) c.4336C>A (p.Gln1446Lys) c.3229C>A (p.Gln1077Lys) n.1830+5576G>T c.7255C>A (p.Gln2419Lys) c.3007C>A (p.Gln1003Lys) c.6235C>A (p.Gln2079Lys) | |
| 8 | g.99776902C>G | CA371875800 | VPS13B | c.7450C>G (p.Gln2484Glu) n.7520C>G c.*3132C>G (n.*3132C>G) c.7375C>G (p.Gln2459Glu) n.378-1780C>G c.7447C>G (p.Gln2483Glu) c.7372C>G (p.Gln2458Glu) c.7072C>G (p.Gln2358Glu) c.4336C>G (p.Gln1446Glu) c.3229C>G (p.Gln1077Glu) n.1830+5576G>C c.7255C>G (p.Gln2419Glu) c.3007C>G (p.Gln1003Glu) c.6235C>G (p.Gln2079Glu) | |
| 8 | g.99776902C>T | CA371875801 | VPS13B | c.7450C>T (p.Gln2484Ter) n.7520C>T c.*3132C>T (n.*3132C>T) c.7375C>T (p.Gln2459Ter) n.378-1780C>T c.7447C>T (p.Gln2483Ter) c.7372C>T (p.Gln2458Ter) c.7072C>T (p.Gln2358Ter) c.4336C>T (p.Gln1446Ter) c.3229C>T (p.Gln1077Ter) n.1830+5576G>A c.7255C>T (p.Gln2419Ter) c.3007C>T (p.Gln1003Ter) c.6235C>T (p.Gln2079Ter) | |
| 8 | g.99776903_99776909del | CA2497230830 | VPS13B | c.7451_7457del (p.Gln2484LeufsTer14) n.7521_7527del c.*3133_*3139del (n.*3133_*3139del) c.7376_7382del (p.Gln2459LeufsTer14) n.378-1779_378-1773del c.7448_7454del (p.Gln2483LeufsTer14) c.7373_7379del (p.Gln2458LeufsTer14) c.7073_7079del (p.Gln2358LeufsTer14) c.4337_4343del (p.Gln1446LeufsTer14) c.3230_3236del (p.Gln1077LeufsTer14) n.1830+5570_1830+5576del c.7256_7262del (p.Gln2419LeufsTer14) c.3008_3014del (p.Gln1003LeufsTer14) c.6236_6242del (p.Gln2079LeufsTer14) | dbSNP |
| 8 | g.99776903A>C | CA371875802 | VPS13B | c.7451A>C (p.Gln2484Pro) n.7521A>C c.*3133A>C (n.*3133A>C) c.7376A>C (p.Gln2459Pro) n.378-1779A>C c.7448A>C (p.Gln2483Pro) c.7373A>C (p.Gln2458Pro) c.7073A>C (p.Gln2358Pro) c.4337A>C (p.Gln1446Pro) c.3230A>C (p.Gln1077Pro) n.1830+5575T>G c.7256A>C (p.Gln2419Pro) c.3008A>C (p.Gln1003Pro) c.6236A>C (p.Gln2079Pro) | |
| 8 | g.99776903A>G | CA371875803 | VPS13B | c.7451A>G (p.Gln2484Arg) n.7521A>G c.*3133A>G (n.*3133A>G) c.7376A>G (p.Gln2459Arg) n.378-1779A>G c.7448A>G (p.Gln2483Arg) c.7373A>G (p.Gln2458Arg) c.7073A>G (p.Gln2358Arg) c.4337A>G (p.Gln1446Arg) c.3230A>G (p.Gln1077Arg) n.1830+5575T>C c.7256A>G (p.Gln2419Arg) c.3008A>G (p.Gln1003Arg) c.6236A>G (p.Gln2079Arg) | |
| 8 | g.99776903A>T | CA371875804 | VPS13B | c.7451A>T (p.Gln2484Leu) n.7521A>T c.*3133A>T (n.*3133A>T) c.7376A>T (p.Gln2459Leu) n.378-1779A>T c.7448A>T (p.Gln2483Leu) c.7373A>T (p.Gln2458Leu) c.7073A>T (p.Gln2358Leu) c.4337A>T (p.Gln1446Leu) c.3230A>T (p.Gln1077Leu) n.1830+5575T>A c.7256A>T (p.Gln2419Leu) c.3008A>T (p.Gln1003Leu) c.6236A>T (p.Gln2079Leu) | |
| 8 | g.99776904G>A | CA462449219 | VPS13B | c.7452G>A (p.Gln2484=) n.7522G>A c.*3134G>A (n.*3134G>A) c.7377G>A (p.Gln2459=) n.378-1778G>A c.7449G>A (p.Gln2483=) c.7374G>A (p.Gln2458=) c.7074G>A (p.Gln2358=) c.4338G>A (p.Gln1446=) c.3231G>A (p.Gln1077=) n.1830+5574C>T c.7257G>A (p.Gln2419=) c.3009G>A (p.Gln1003=) c.6237G>A (p.Gln2079=) | |
| 8 | g.99776904G>C | CA371875805 | VPS13B | c.7452G>C (p.Gln2484His) n.7522G>C c.*3134G>C (n.*3134G>C) c.7377G>C (p.Gln2459His) n.378-1778G>C c.7449G>C (p.Gln2483His) c.7374G>C (p.Gln2458His) c.7074G>C (p.Gln2358His) c.4338G>C (p.Gln1446His) c.3231G>C (p.Gln1077His) n.1830+5574C>G c.7257G>C (p.Gln2419His) c.3009G>C (p.Gln1003His) c.6237G>C (p.Gln2079His) | ClinVar gnomAD v4 |
| 8 | g.99776904G>T | CA371875806 | VPS13B | c.7452G>T (p.Gln2484His) n.7522G>T c.*3134G>T (n.*3134G>T) c.7377G>T (p.Gln2459His) n.378-1778G>T c.7449G>T (p.Gln2483His) c.7374G>T (p.Gln2458His) c.7074G>T (p.Gln2358His) c.4338G>T (p.Gln1446His) c.3231G>T (p.Gln1077His) n.1830+5574C>A c.7257G>T (p.Gln2419His) c.3009G>T (p.Gln1003His) c.6237G>T (p.Gln2079His) | |
| 8 | g.99776905T>A | CA371875807 | VPS13B | c.7453T>A (p.Phe2485Ile) n.7523T>A c.*3135T>A (n.*3135T>A) c.7378T>A (p.Phe2460Ile) n.378-1777T>A c.7450T>A (p.Phe2484Ile) c.7375T>A (p.Phe2459Ile) c.7075T>A (p.Phe2359Ile) c.4339T>A (p.Phe1447Ile) c.3232T>A (p.Phe1078Ile) n.1830+5573A>T c.7258T>A (p.Phe2420Ile) c.3010T>A (p.Phe1004Ile) c.6238T>A (p.Phe2080Ile) | |
| 8 | g.99776905T>C | CA371875808 | VPS13B | c.7453T>C (p.Phe2485Leu) n.7523T>C c.*3135T>C (n.*3135T>C) c.7378T>C (p.Phe2460Leu) n.378-1777T>C c.7450T>C (p.Phe2484Leu) c.7375T>C (p.Phe2459Leu) c.7075T>C (p.Phe2359Leu) c.4339T>C (p.Phe1447Leu) c.3232T>C (p.Phe1078Leu) n.1830+5573A>G c.7258T>C (p.Phe2420Leu) c.3010T>C (p.Phe1004Leu) c.6238T>C (p.Phe2080Leu) | dbSNP |
| 8 | g.99776905T>G | CA371875809 | VPS13B | c.7453T>G (p.Phe2485Val) n.7523T>G c.*3135T>G (n.*3135T>G) c.7378T>G (p.Phe2460Val) n.378-1777T>G c.7450T>G (p.Phe2484Val) c.7375T>G (p.Phe2459Val) c.7075T>G (p.Phe2359Val) c.4339T>G (p.Phe1447Val) c.3232T>G (p.Phe1078Val) n.1830+5573A>C c.7258T>G (p.Phe2420Val) c.3010T>G (p.Phe1004Val) c.6238T>G (p.Phe2080Val) | |
| 8 | g.99776906T>A | CA371875811 | VPS13B | c.7454T>A (p.Phe2485Tyr) n.7524T>A c.*3136T>A (n.*3136T>A) c.7379T>A (p.Phe2460Tyr) n.378-1776T>A c.7451T>A (p.Phe2484Tyr) c.7376T>A (p.Phe2459Tyr) c.7076T>A (p.Phe2359Tyr) c.4340T>A (p.Phe1447Tyr) c.3233T>A (p.Phe1078Tyr) n.1830+5572A>T c.7259T>A (p.Phe2420Tyr) c.3011T>A (p.Phe1004Tyr) c.6239T>A (p.Phe2080Tyr) | dbSNP |
| 8 | g.99776906T>C | CA371875812 | VPS13B | c.7454T>C (p.Phe2485Ser) n.7524T>C c.*3136T>C (n.*3136T>C) c.7379T>C (p.Phe2460Ser) n.378-1776T>C c.7451T>C (p.Phe2484Ser) c.7376T>C (p.Phe2459Ser) c.7076T>C (p.Phe2359Ser) c.4340T>C (p.Phe1447Ser) c.3233T>C (p.Phe1078Ser) n.1830+5572A>G c.7259T>C (p.Phe2420Ser) c.3011T>C (p.Phe1004Ser) c.6239T>C (p.Phe2080Ser) | |
| 8 | g.99776906T>G | CA371875810 | VPS13B | c.7454T>G (p.Phe2485Cys) n.7524T>G c.*3136T>G (n.*3136T>G) c.7379T>G (p.Phe2460Cys) n.378-1776T>G c.7451T>G (p.Phe2484Cys) c.7376T>G (p.Phe2459Cys) c.7076T>G (p.Phe2359Cys) c.4340T>G (p.Phe1447Cys) c.3233T>G (p.Phe1078Cys) n.1830+5572A>C c.7259T>G (p.Phe2420Cys) c.3011T>G (p.Phe1004Cys) c.6239T>G (p.Phe2080Cys) | |
| 8 | g.99776907T>A | CA371875813 | VPS13B | c.7455T>A (p.Phe2485Leu) n.7525T>A c.*3137T>A (n.*3137T>A) c.7380T>A (p.Phe2460Leu) n.378-1775T>A c.7452T>A (p.Phe2484Leu) c.7377T>A (p.Phe2459Leu) c.7077T>A (p.Phe2359Leu) c.4341T>A (p.Phe1447Leu) c.3234T>A (p.Phe1078Leu) n.1830+5571A>T c.7260T>A (p.Phe2420Leu) c.3012T>A (p.Phe1004Leu) c.6240T>A (p.Phe2080Leu) | |
| 8 | g.99776907T>C | CA462449220 | VPS13B | c.7455T>C (p.Phe2485=) n.7525T>C c.*3137T>C (n.*3137T>C) c.7380T>C (p.Phe2460=) n.378-1775T>C c.7452T>C (p.Phe2484=) c.7377T>C (p.Phe2459=) c.7077T>C (p.Phe2359=) c.4341T>C (p.Phe1447=) c.3234T>C (p.Phe1078=) n.1830+5571A>G c.7260T>C (p.Phe2420=) c.3012T>C (p.Phe1004=) c.6240T>C (p.Phe2080=) | |
| 8 | g.99776907T>G | CA4824201 | VPS13B | c.7455T>G (p.Phe2485Leu) n.7525T>G c.*3137T>G (n.*3137T>G) c.7380T>G (p.Phe2460Leu) n.378-1775T>G c.7452T>G (p.Phe2484Leu) c.7377T>G (p.Phe2459Leu) c.7077T>G (p.Phe2359Leu) c.4341T>G (p.Phe1447Leu) c.3234T>G (p.Phe1078Leu) n.1830+5571A>C c.7260T>G (p.Phe2420Leu) c.3012T>G (p.Phe1004Leu) c.6240T>G (p.Phe2080Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99776908G>A | CA371875814 | VPS13B | c.7456G>A (p.Ala2486Thr) n.7526G>A c.*3138G>A (n.*3138G>A) c.7381G>A (p.Ala2461Thr) n.378-1774G>A c.7453G>A (p.Ala2485Thr) c.7378G>A (p.Ala2460Thr) c.7078G>A (p.Ala2360Thr) c.4342G>A (p.Ala1448Thr) c.3235G>A (p.Ala1079Thr) n.1830+5570C>T c.7261G>A (p.Ala2421Thr) c.3013G>A (p.Ala1005Thr) c.6241G>A (p.Ala2081Thr) | gnomAD v4 |
| 8 | g.99776908G>C | CA371875815 | VPS13B | c.7456G>C (p.Ala2486Pro) n.7526G>C c.*3138G>C (n.*3138G>C) c.7381G>C (p.Ala2461Pro) n.378-1774G>C c.7453G>C (p.Ala2485Pro) c.7378G>C (p.Ala2460Pro) c.7078G>C (p.Ala2360Pro) c.4342G>C (p.Ala1448Pro) c.3235G>C (p.Ala1079Pro) n.1830+5570C>G c.7261G>C (p.Ala2421Pro) c.3013G>C (p.Ala1005Pro) c.6241G>C (p.Ala2081Pro) | |
| 8 | g.99776908G>T | CA371875816 | VPS13B | c.7456G>T (p.Ala2486Ser) n.7526G>T c.*3138G>T (n.*3138G>T) c.7381G>T (p.Ala2461Ser) n.378-1774G>T c.7453G>T (p.Ala2485Ser) c.7378G>T (p.Ala2460Ser) c.7078G>T (p.Ala2360Ser) c.4342G>T (p.Ala1448Ser) c.3235G>T (p.Ala1079Ser) n.1830+5570C>A c.7261G>T (p.Ala2421Ser) c.3013G>T (p.Ala1005Ser) c.6241G>T (p.Ala2081Ser) | gnomAD v4 |
| 8 | g.99776909C>A | CA371875819 | VPS13B | c.7457C>A (p.Ala2486Asp) n.7527C>A c.*3139C>A (n.*3139C>A) c.7382C>A (p.Ala2461Asp) n.378-1773C>A c.7454C>A (p.Ala2485Asp) c.7379C>A (p.Ala2460Asp) c.7079C>A (p.Ala2360Asp) c.4343C>A (p.Ala1448Asp) c.3236C>A (p.Ala1079Asp) n.1830+5569G>T c.7262C>A (p.Ala2421Asp) c.3014C>A (p.Ala1005Asp) c.6242C>A (p.Ala2081Asp) | |
| 8 | g.99776909C>G | CA371875817 | VPS13B | c.7457C>G (p.Ala2486Gly) n.7527C>G c.*3139C>G (n.*3139C>G) c.7382C>G (p.Ala2461Gly) n.378-1773C>G c.7454C>G (p.Ala2485Gly) c.7379C>G (p.Ala2460Gly) c.7079C>G (p.Ala2360Gly) c.4343C>G (p.Ala1448Gly) c.3236C>G (p.Ala1079Gly) n.1830+5569G>C c.7262C>G (p.Ala2421Gly) c.3014C>G (p.Ala1005Gly) c.6242C>G (p.Ala2081Gly) | |
| 8 | g.99776909C>T | CA371875818 | VPS13B | c.7457C>T (p.Ala2486Val) n.7527C>T c.*3139C>T (n.*3139C>T) c.7382C>T (p.Ala2461Val) n.378-1773C>T c.7454C>T (p.Ala2485Val) c.7379C>T (p.Ala2460Val) c.7079C>T (p.Ala2360Val) c.4343C>T (p.Ala1448Val) c.3236C>T (p.Ala1079Val) n.1830+5569G>A c.7262C>T (p.Ala2421Val) c.3014C>T (p.Ala1005Val) c.6242C>T (p.Ala2081Val) | |
| 8 | g.99776910T>A | CA462449221 | VPS13B | c.7458T>A (p.Ala2486=) n.7528T>A c.*3140T>A (n.*3140T>A) c.7383T>A (p.Ala2461=) n.378-1772T>A c.7455T>A (p.Ala2485=) c.7380T>A (p.Ala2460=) c.7080T>A (p.Ala2360=) c.4344T>A (p.Ala1448=) c.3237T>A (p.Ala1079=) n.1830+5568A>T c.7263T>A (p.Ala2421=) c.3015T>A (p.Ala1005=) c.6243T>A (p.Ala2081=) | |
| 8 | g.99776910T>C | CA462449222 | VPS13B | c.7458T>C (p.Ala2486=) n.7528T>C c.*3140T>C (n.*3140T>C) c.7383T>C (p.Ala2461=) n.378-1772T>C c.7455T>C (p.Ala2485=) c.7380T>C (p.Ala2460=) c.7080T>C (p.Ala2360=) c.4344T>C (p.Ala1448=) c.3237T>C (p.Ala1079=) n.1830+5568A>G c.7263T>C (p.Ala2421=) c.3015T>C (p.Ala1005=) c.6243T>C (p.Ala2081=) | |
| 8 | g.99776910T>G | CA462449223 | VPS13B | c.7458T>G (p.Ala2486=) n.7528T>G c.*3140T>G (n.*3140T>G) c.7383T>G (p.Ala2461=) n.378-1772T>G c.7455T>G (p.Ala2485=) c.7380T>G (p.Ala2460=) c.7080T>G (p.Ala2360=) c.4344T>G (p.Ala1448=) c.3237T>G (p.Ala1079=) n.1830+5568A>C c.7263T>G (p.Ala2421=) c.3015T>G (p.Ala1005=) c.6243T>G (p.Ala2081=) | |
| 8 | g.99776911C>A | CA371875820 | VPS13B | c.7459C>A (p.His2487Asn) n.7529C>A c.*3141C>A (n.*3141C>A) c.7384C>A (p.His2462Asn) n.378-1771C>A c.7456C>A (p.His2486Asn) c.7381C>A (p.His2461Asn) c.7081C>A (p.His2361Asn) c.4345C>A (p.His1449Asn) c.3238C>A (p.His1080Asn) n.1830+5567G>T c.7264C>A (p.His2422Asn) c.3016C>A (p.His1006Asn) c.6244C>A (p.His2082Asn) | |
| 8 | g.99776911C>G | CA371875821 | VPS13B | c.7459C>G (p.His2487Asp) n.7529C>G c.*3141C>G (n.*3141C>G) c.7384C>G (p.His2462Asp) n.378-1771C>G c.7456C>G (p.His2486Asp) c.7381C>G (p.His2461Asp) c.7081C>G (p.His2361Asp) c.4345C>G (p.His1449Asp) c.3238C>G (p.His1080Asp) n.1830+5567G>C c.7264C>G (p.His2422Asp) c.3016C>G (p.His1006Asp) c.6244C>G (p.His2082Asp) | |
| 8 | g.99776911C>T | CA371875822 | VPS13B | c.7459C>T (p.His2487Tyr) n.7529C>T c.*3141C>T (n.*3141C>T) c.7384C>T (p.His2462Tyr) n.378-1771C>T c.7456C>T (p.His2486Tyr) c.7381C>T (p.His2461Tyr) c.7081C>T (p.His2361Tyr) c.4345C>T (p.His1449Tyr) c.3238C>T (p.His1080Tyr) n.1830+5567G>A c.7264C>T (p.His2422Tyr) c.3016C>T (p.His1006Tyr) c.6244C>T (p.His2082Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99776912A>C | CA4824202 | VPS13B | c.7460A>C (p.His2487Pro) n.7530A>C c.*3142A>C (n.*3142A>C) c.7385A>C (p.His2462Pro) n.378-1770A>C c.7457A>C (p.His2486Pro) c.7382A>C (p.His2461Pro) c.7082A>C (p.His2361Pro) c.4346A>C (p.His1449Pro) c.3239A>C (p.His1080Pro) n.1830+5566T>G c.7265A>C (p.His2422Pro) c.3017A>C (p.His1006Pro) c.6245A>C (p.His2082Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.99776912A>G | CA371875823 | VPS13B | c.7460A>G (p.His2487Arg) n.7530A>G c.*3142A>G (n.*3142A>G) c.7385A>G (p.His2462Arg) n.378-1770A>G c.7457A>G (p.His2486Arg) c.7382A>G (p.His2461Arg) c.7082A>G (p.His2361Arg) c.4346A>G (p.His1449Arg) c.3239A>G (p.His1080Arg) n.1830+5566T>C c.7265A>G (p.His2422Arg) c.3017A>G (p.His1006Arg) c.6245A>G (p.His2082Arg) | |
| 8 | g.99776912A>T | CA371875824 | VPS13B | c.7460A>T (p.His2487Leu) n.7530A>T c.*3142A>T (n.*3142A>T) c.7385A>T (p.His2462Leu) n.378-1770A>T c.7457A>T (p.His2486Leu) c.7382A>T (p.His2461Leu) c.7082A>T (p.His2361Leu) c.4346A>T (p.His1449Leu) c.3239A>T (p.His1080Leu) n.1830+5566T>A c.7265A>T (p.His2422Leu) c.3017A>T (p.His1006Leu) c.6245A>T (p.His2082Leu) | |
| 8 | g.99776913C>A | CA371875825 | VPS13B | c.7461C>A (p.His2487Gln) n.7531C>A c.*3143C>A (n.*3143C>A) c.7386C>A (p.His2462Gln) n.378-1769C>A c.7458C>A (p.His2486Gln) c.7383C>A (p.His2461Gln) c.7083C>A (p.His2361Gln) c.4347C>A (p.His1449Gln) c.3240C>A (p.His1080Gln) n.1830+5565G>T c.7266C>A (p.His2422Gln) c.3018C>A (p.His1006Gln) c.6246C>A (p.His2082Gln) | |
| 8 | g.99776913C>G | CA371875826 | VPS13B | c.7461C>G (p.His2487Gln) n.7531C>G c.*3143C>G (n.*3143C>G) c.7386C>G (p.His2462Gln) n.378-1769C>G c.7458C>G (p.His2486Gln) c.7383C>G (p.His2461Gln) c.7083C>G (p.His2361Gln) c.4347C>G (p.His1449Gln) c.3240C>G (p.His1080Gln) n.1830+5565G>C c.7266C>G (p.His2422Gln) c.3018C>G (p.His1006Gln) c.6246C>G (p.His2082Gln) | |
| 8 | g.99776913C>T | CA462449224 | VPS13B | c.7461C>T (p.His2487=) n.7531C>T c.*3143C>T (n.*3143C>T) c.7386C>T (p.His2462=) n.378-1769C>T c.7458C>T (p.His2486=) c.7383C>T (p.His2461=) c.7083C>T (p.His2361=) c.4347C>T (p.His1449=) c.3240C>T (p.His1080=) n.1830+5565G>A c.7266C>T (p.His2422=) c.3018C>T (p.His1006=) c.6246C>T (p.His2082=) | |
| 8 | g.99776914C>A | CA371875827 | VPS13B | c.7462C>A (p.Leu2488Met) n.7532C>A c.*3144C>A (n.*3144C>A) c.7387C>A (p.Leu2463Met) n.378-1768C>A c.7459C>A (p.Leu2487Met) c.7384C>A (p.Leu2462Met) c.7084C>A (p.Leu2362Met) c.4348C>A (p.Leu1450Met) c.3241C>A (p.Leu1081Met) n.1830+5564G>T c.7267C>A (p.Leu2423Met) c.3019C>A (p.Leu1007Met) c.6247C>A (p.Leu2083Met) | |
| 8 | g.99776914C>G | CA371875828 | VPS13B | c.7462C>G (p.Leu2488Val) n.7532C>G c.*3144C>G (n.*3144C>G) c.7387C>G (p.Leu2463Val) n.378-1768C>G c.7459C>G (p.Leu2487Val) c.7384C>G (p.Leu2462Val) c.7084C>G (p.Leu2362Val) c.4348C>G (p.Leu1450Val) c.3241C>G (p.Leu1081Val) n.1830+5564G>C c.7267C>G (p.Leu2423Val) c.3019C>G (p.Leu1007Val) c.6247C>G (p.Leu2083Val) | gnomAD v4 |
| 8 | g.99776914C>T | CA462449225 | VPS13B | c.7462C>T (p.Leu2488=) n.7532C>T c.*3144C>T (n.*3144C>T) c.7387C>T (p.Leu2463=) n.378-1768C>T c.7459C>T (p.Leu2487=) c.7384C>T (p.Leu2462=) c.7084C>T (p.Leu2362=) c.4348C>T (p.Leu1450=) c.3241C>T (p.Leu1081=) n.1830+5564G>A c.7267C>T (p.Leu2423=) c.3019C>T (p.Leu1007=) c.6247C>T (p.Leu2083=) | |
| 8 | g.99776915T>A | CA371875829 | VPS13B | c.7463T>A (p.Leu2488Gln) n.7533T>A c.*3145T>A (n.*3145T>A) c.7388T>A (p.Leu2463Gln) n.378-1767T>A c.7460T>A (p.Leu2487Gln) c.7385T>A (p.Leu2462Gln) c.7085T>A (p.Leu2362Gln) c.4349T>A (p.Leu1450Gln) c.3242T>A (p.Leu1081Gln) n.1830+5563A>T c.7268T>A (p.Leu2423Gln) c.3020T>A (p.Leu1007Gln) c.6248T>A (p.Leu2083Gln) | |
| 8 | g.99776915T>C | CA371875830 | VPS13B | c.7463T>C (p.Leu2488Pro) n.7533T>C c.*3145T>C (n.*3145T>C) c.7388T>C (p.Leu2463Pro) n.378-1767T>C c.7460T>C (p.Leu2487Pro) c.7385T>C (p.Leu2462Pro) c.7085T>C (p.Leu2362Pro) c.4349T>C (p.Leu1450Pro) c.3242T>C (p.Leu1081Pro) n.1830+5563A>G c.7268T>C (p.Leu2423Pro) c.3020T>C (p.Leu1007Pro) c.6248T>C (p.Leu2083Pro) | |
| 8 | g.99776915T>G | CA371875831 | VPS13B | c.7463T>G (p.Leu2488Arg) n.7533T>G c.*3145T>G (n.*3145T>G) c.7388T>G (p.Leu2463Arg) n.378-1767T>G c.7460T>G (p.Leu2487Arg) c.7385T>G (p.Leu2462Arg) c.7085T>G (p.Leu2362Arg) c.4349T>G (p.Leu1450Arg) c.3242T>G (p.Leu1081Arg) n.1830+5563A>C c.7268T>G (p.Leu2423Arg) c.3020T>G (p.Leu1007Arg) c.6248T>G (p.Leu2083Arg) | gnomAD v4 |
| 8 | g.99776916G>A | CA462449226 | VPS13B | c.7464G>A (p.Leu2488=) n.7534G>A c.*3146G>A (n.*3146G>A) c.7389G>A (p.Leu2463=) n.378-1766G>A c.7461G>A (p.Leu2487=) c.7386G>A (p.Leu2462=) c.7086G>A (p.Leu2362=) c.4350G>A (p.Leu1450=) c.3243G>A (p.Leu1081=) n.1830+5562C>T c.7269G>A (p.Leu2423=) c.3021G>A (p.Leu1007=) c.6249G>A (p.Leu2083=) | |
| 8 | g.99776916G>C | CA462449227 | VPS13B | c.7464G>C (p.Leu2488=) n.7534G>C c.*3146G>C (n.*3146G>C) c.7389G>C (p.Leu2463=) n.378-1766G>C c.7461G>C (p.Leu2487=) c.7386G>C (p.Leu2462=) c.7086G>C (p.Leu2362=) c.4350G>C (p.Leu1450=) c.3243G>C (p.Leu1081=) n.1830+5562C>G c.7269G>C (p.Leu2423=) c.3021G>C (p.Leu1007=) c.6249G>C (p.Leu2083=) |