WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99717271T>A | CA462440260 | VPS13B | c.6630T>A (p.Ala2210=) n.6700T>A c.*2312T>A (n.*2312T>A) c.6555T>A (p.Ala2185=) c.6627T>A (p.Ala2209=) c.6552T>A (p.Ala2184=) c.6252T>A (p.Ala2084=) c.3516T>A (p.Ala1172=) c.2409T>A (p.Ala803=) c.6435T>A (p.Ala2145=) c.2187T>A (p.Ala729=) c.5415T>A (p.Ala1805=) | |
| 8 | g.99717271T>C | CA462440261 | VPS13B | c.6630T>C (p.Ala2210=) n.6700T>C c.*2312T>C (n.*2312T>C) c.6555T>C (p.Ala2185=) c.6627T>C (p.Ala2209=) c.6552T>C (p.Ala2184=) c.6252T>C (p.Ala2084=) c.3516T>C (p.Ala1172=) c.2409T>C (p.Ala803=) c.6435T>C (p.Ala2145=) c.2187T>C (p.Ala729=) c.5415T>C (p.Ala1805=) | dbSNP |
| 8 | g.99717271T>G | CA462440262 | VPS13B | c.6630T>G (p.Ala2210=) n.6700T>G c.*2312T>G (n.*2312T>G) c.6555T>G (p.Ala2185=) c.6627T>G (p.Ala2209=) c.6552T>G (p.Ala2184=) c.6252T>G (p.Ala2084=) c.3516T>G (p.Ala1172=) c.2409T>G (p.Ala803=) c.6435T>G (p.Ala2145=) c.2187T>G (p.Ala729=) c.5415T>G (p.Ala1805=) | |
| 8 | g.99717272A>C | CA371867289 | VPS13B | c.6631A>C (p.Thr2211Pro) n.6701A>C c.*2313A>C (n.*2313A>C) c.6556A>C (p.Thr2186Pro) c.6628A>C (p.Thr2210Pro) c.6553A>C (p.Thr2185Pro) c.6253A>C (p.Thr2085Pro) c.3517A>C (p.Thr1173Pro) c.2410A>C (p.Thr804Pro) c.6436A>C (p.Thr2146Pro) c.2188A>C (p.Thr730Pro) c.5416A>C (p.Thr1806Pro) | |
| 8 | g.99717272A>G | CA4824027 | VPS13B | c.6631A>G (p.Thr2211Ala) n.6701A>G c.*2313A>G (n.*2313A>G) c.6556A>G (p.Thr2186Ala) c.6628A>G (p.Thr2210Ala) c.6553A>G (p.Thr2185Ala) c.6253A>G (p.Thr2085Ala) c.3517A>G (p.Thr1173Ala) c.2410A>G (p.Thr804Ala) c.6436A>G (p.Thr2146Ala) c.2188A>G (p.Thr730Ala) c.5416A>G (p.Thr1806Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99717272A>T | CA371867290 | VPS13B | c.6631A>T (p.Thr2211Ser) n.6701A>T c.*2313A>T (n.*2313A>T) c.6556A>T (p.Thr2186Ser) c.6628A>T (p.Thr2210Ser) c.6553A>T (p.Thr2185Ser) c.6253A>T (p.Thr2085Ser) c.3517A>T (p.Thr1173Ser) c.2410A>T (p.Thr804Ser) c.6436A>T (p.Thr2146Ser) c.2188A>T (p.Thr730Ser) c.5416A>T (p.Thr1806Ser) | gnomAD v4 |
| 8 | g.99717273C>A | CA371867291 | VPS13B | c.6632C>A (p.Thr2211Asn) n.6702C>A c.*2314C>A (n.*2314C>A) c.6557C>A (p.Thr2186Asn) c.6629C>A (p.Thr2210Asn) c.6554C>A (p.Thr2185Asn) c.6254C>A (p.Thr2085Asn) c.3518C>A (p.Thr1173Asn) c.2411C>A (p.Thr804Asn) c.6437C>A (p.Thr2146Asn) c.2189C>A (p.Thr730Asn) c.5417C>A (p.Thr1806Asn) | |
| 8 | g.99717273C>G | CA371867292 | VPS13B | c.6632C>G (p.Thr2211Ser) n.6702C>G c.*2314C>G (n.*2314C>G) c.6557C>G (p.Thr2186Ser) c.6629C>G (p.Thr2210Ser) c.6554C>G (p.Thr2185Ser) c.6254C>G (p.Thr2085Ser) c.3518C>G (p.Thr1173Ser) c.2411C>G (p.Thr804Ser) c.6437C>G (p.Thr2146Ser) c.2189C>G (p.Thr730Ser) c.5417C>G (p.Thr1806Ser) | |
| 8 | g.99717273C>T | CA371867293 | VPS13B | c.6632C>T (p.Thr2211Ile) n.6702C>T c.*2314C>T (n.*2314C>T) c.6557C>T (p.Thr2186Ile) c.6629C>T (p.Thr2210Ile) c.6554C>T (p.Thr2185Ile) c.6254C>T (p.Thr2085Ile) c.3518C>T (p.Thr1173Ile) c.2411C>T (p.Thr804Ile) c.6437C>T (p.Thr2146Ile) c.2189C>T (p.Thr730Ile) c.5417C>T (p.Thr1806Ile) | |
| 8 | g.99717274T>A | CA462440263 | VPS13B | c.6633T>A (p.Thr2211=) n.6703T>A c.*2315T>A (n.*2315T>A) c.6558T>A (p.Thr2186=) c.6630T>A (p.Thr2210=) c.6555T>A (p.Thr2185=) c.6255T>A (p.Thr2085=) c.3519T>A (p.Thr1173=) c.2412T>A (p.Thr804=) c.6438T>A (p.Thr2146=) c.2190T>A (p.Thr730=) c.5418T>A (p.Thr1806=) | |
| 8 | g.99717274T>C | CA462440264 | VPS13B | c.6633T>C (p.Thr2211=) n.6703T>C c.*2315T>C (n.*2315T>C) c.6558T>C (p.Thr2186=) c.6630T>C (p.Thr2210=) c.6555T>C (p.Thr2185=) c.6255T>C (p.Thr2085=) c.3519T>C (p.Thr1173=) c.2412T>C (p.Thr804=) c.6438T>C (p.Thr2146=) c.2190T>C (p.Thr730=) c.5418T>C (p.Thr1806=) | COSMIC COSMIC |
| 8 | g.99717274T>G | CA4824028 | VPS13B | c.6633T>G (p.Thr2211=) n.6703T>G c.*2315T>G (n.*2315T>G) c.6558T>G (p.Thr2186=) c.6630T>G (p.Thr2210=) c.6555T>G (p.Thr2185=) c.6255T>G (p.Thr2085=) c.3519T>G (p.Thr1173=) c.2412T>G (p.Thr804=) c.6438T>G (p.Thr2146=) c.2190T>G (p.Thr730=) c.5418T>G (p.Thr1806=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.99717275G>A | CA371867296 | VPS13B | c.6634G>A (p.Ala2212Thr) n.6704G>A c.*2316G>A (n.*2316G>A) c.6559G>A (p.Ala2187Thr) c.6631G>A (p.Ala2211Thr) c.6556G>A (p.Ala2186Thr) c.6256G>A (p.Ala2086Thr) c.3520G>A (p.Ala1174Thr) c.2413G>A (p.Ala805Thr) c.6439G>A (p.Ala2147Thr) c.2191G>A (p.Ala731Thr) c.5419G>A (p.Ala1807Thr) | gnomAD v4 |
| 8 | g.99717275G>C | CA371867295 | VPS13B | c.6634G>C (p.Ala2212Pro) n.6704G>C c.*2316G>C (n.*2316G>C) c.6559G>C (p.Ala2187Pro) c.6631G>C (p.Ala2211Pro) c.6556G>C (p.Ala2186Pro) c.6256G>C (p.Ala2086Pro) c.3520G>C (p.Ala1174Pro) c.2413G>C (p.Ala805Pro) c.6439G>C (p.Ala2147Pro) c.2191G>C (p.Ala731Pro) c.5419G>C (p.Ala1807Pro) | |
| 8 | g.99717275G>T | CA371867294 | VPS13B | c.6634G>T (p.Ala2212Ser) n.6704G>T c.*2316G>T (n.*2316G>T) c.6559G>T (p.Ala2187Ser) c.6631G>T (p.Ala2211Ser) c.6556G>T (p.Ala2186Ser) c.6256G>T (p.Ala2086Ser) c.3520G>T (p.Ala1174Ser) c.2413G>T (p.Ala805Ser) c.6439G>T (p.Ala2147Ser) c.2191G>T (p.Ala731Ser) c.5419G>T (p.Ala1807Ser) | |
| 8 | g.99717276C>A | CA371867297 | VPS13B | c.6635C>A (p.Ala2212Asp) n.6705C>A c.*2317C>A (n.*2317C>A) c.6560C>A (p.Ala2187Asp) c.6632C>A (p.Ala2211Asp) c.6557C>A (p.Ala2186Asp) c.6257C>A (p.Ala2086Asp) c.3521C>A (p.Ala1174Asp) c.2414C>A (p.Ala805Asp) c.6440C>A (p.Ala2147Asp) c.2192C>A (p.Ala731Asp) c.5420C>A (p.Ala1807Asp) | |
| 8 | g.99717276C>G | CA371867298 | VPS13B | c.6635C>G (p.Ala2212Gly) n.6705C>G c.*2317C>G (n.*2317C>G) c.6560C>G (p.Ala2187Gly) c.6632C>G (p.Ala2211Gly) c.6557C>G (p.Ala2186Gly) c.6257C>G (p.Ala2086Gly) c.3521C>G (p.Ala1174Gly) c.2414C>G (p.Ala805Gly) c.6440C>G (p.Ala2147Gly) c.2192C>G (p.Ala731Gly) c.5420C>G (p.Ala1807Gly) | |
| 8 | g.99717276C>T | CA371867299 | VPS13B | c.6635C>T (p.Ala2212Val) n.6705C>T c.*2317C>T (n.*2317C>T) c.6560C>T (p.Ala2187Val) c.6632C>T (p.Ala2211Val) c.6557C>T (p.Ala2186Val) c.6257C>T (p.Ala2086Val) c.3521C>T (p.Ala1174Val) c.2414C>T (p.Ala805Val) c.6440C>T (p.Ala2147Val) c.2192C>T (p.Ala731Val) c.5420C>T (p.Ala1807Val) | ClinVar COSMIC COSMIC |
| 8 | g.99717277C>A | CA462440265 | VPS13B | c.6636C>A (p.Ala2212=) n.6706C>A c.*2318C>A (n.*2318C>A) c.6561C>A (p.Ala2187=) c.6633C>A (p.Ala2211=) c.6558C>A (p.Ala2186=) c.6258C>A (p.Ala2086=) c.3522C>A (p.Ala1174=) c.2415C>A (p.Ala805=) c.6441C>A (p.Ala2147=) c.2193C>A (p.Ala731=) c.5421C>A (p.Ala1807=) | |
| 8 | g.99717277C>G | CA462440266 | VPS13B | c.6636C>G (p.Ala2212=) n.6706C>G c.*2318C>G (n.*2318C>G) c.6561C>G (p.Ala2187=) c.6633C>G (p.Ala2211=) c.6558C>G (p.Ala2186=) c.6258C>G (p.Ala2086=) c.3522C>G (p.Ala1174=) c.2415C>G (p.Ala805=) c.6441C>G (p.Ala2147=) c.2193C>G (p.Ala731=) c.5421C>G (p.Ala1807=) | |
| 8 | g.99717277C>T | CA462440267 | VPS13B | c.6636C>T (p.Ala2212=) n.6706C>T c.*2318C>T (n.*2318C>T) c.6561C>T (p.Ala2187=) c.6633C>T (p.Ala2211=) c.6558C>T (p.Ala2186=) c.6258C>T (p.Ala2086=) c.3522C>T (p.Ala1174=) c.2415C>T (p.Ala805=) c.6441C>T (p.Ala2147=) c.2193C>T (p.Ala731=) c.5421C>T (p.Ala1807=) | |
| 8 | g.99717278A>C | CA371867300 | VPS13B | c.6637A>C (p.Asn2213His) n.6707A>C c.*2319A>C (n.*2319A>C) c.6562A>C (p.Asn2188His) c.6634A>C (p.Asn2212His) c.6559A>C (p.Asn2187His) c.6259A>C (p.Asn2087His) c.3523A>C (p.Asn1175His) c.2416A>C (p.Asn806His) c.6442A>C (p.Asn2148His) c.2194A>C (p.Asn732His) c.5422A>C (p.Asn1808His) | |
| 8 | g.99717278A>G | CA371867301 | VPS13B | c.6637A>G (p.Asn2213Asp) n.6707A>G c.*2319A>G (n.*2319A>G) c.6562A>G (p.Asn2188Asp) c.6634A>G (p.Asn2212Asp) c.6559A>G (p.Asn2187Asp) c.6259A>G (p.Asn2087Asp) c.3523A>G (p.Asn1175Asp) c.2416A>G (p.Asn806Asp) c.6442A>G (p.Asn2148Asp) c.2194A>G (p.Asn732Asp) c.5422A>G (p.Asn1808Asp) | |
| 8 | g.99717278A>T | CA371867302 | VPS13B | c.6637A>T (p.Asn2213Tyr) n.6707A>T c.*2319A>T (n.*2319A>T) c.6562A>T (p.Asn2188Tyr) c.6634A>T (p.Asn2212Tyr) c.6559A>T (p.Asn2187Tyr) c.6259A>T (p.Asn2087Tyr) c.3523A>T (p.Asn1175Tyr) c.2416A>T (p.Asn806Tyr) c.6442A>T (p.Asn2148Tyr) c.2194A>T (p.Asn732Tyr) c.5422A>T (p.Asn1808Tyr) | |
| 8 | g.99717279del | CA2688067387 | VPS13B | c.6638del (p.Asn2213IlefsTer26) n.6708del c.*2320del (n.*2320del) c.6563del (p.Asn2188IlefsTer26) c.6635del (p.Asn2212IlefsTer26) c.6560del (p.Asn2187IlefsTer26) c.6260del (p.Asn2087IlefsTer26) c.3524del (p.Asn1175IlefsTer26) c.2417del (p.Asn806IlefsTer26) c.6443del (p.Asn2148IlefsTer26) c.2195del (p.Asn732IlefsTer26) c.5423del (p.Asn1808IlefsTer26) | gnomAD v4 |
| 8 | g.99717279A>C | CA371867303 | VPS13B | c.6638A>C (p.Asn2213Thr) n.6708A>C c.*2320A>C (n.*2320A>C) c.6563A>C (p.Asn2188Thr) c.6635A>C (p.Asn2212Thr) c.6560A>C (p.Asn2187Thr) c.6260A>C (p.Asn2087Thr) c.3524A>C (p.Asn1175Thr) c.2417A>C (p.Asn806Thr) c.6443A>C (p.Asn2148Thr) c.2195A>C (p.Asn732Thr) c.5423A>C (p.Asn1808Thr) | |
| 8 | g.99717279A>G | CA371867304 | VPS13B | c.6638A>G (p.Asn2213Ser) n.6708A>G c.*2320A>G (n.*2320A>G) c.6563A>G (p.Asn2188Ser) c.6635A>G (p.Asn2212Ser) c.6560A>G (p.Asn2187Ser) c.6260A>G (p.Asn2087Ser) c.3524A>G (p.Asn1175Ser) c.2417A>G (p.Asn806Ser) c.6443A>G (p.Asn2148Ser) c.2195A>G (p.Asn732Ser) c.5423A>G (p.Asn1808Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99717279A>T | CA371867305 | VPS13B | c.6638A>T (p.Asn2213Ile) n.6708A>T c.*2320A>T (n.*2320A>T) c.6563A>T (p.Asn2188Ile) c.6635A>T (p.Asn2212Ile) c.6560A>T (p.Asn2187Ile) c.6260A>T (p.Asn2087Ile) c.3524A>T (p.Asn1175Ile) c.2417A>T (p.Asn806Ile) c.6443A>T (p.Asn2148Ile) c.2195A>T (p.Asn732Ile) c.5423A>T (p.Asn1808Ile) | |
| 8 | g.99717280T>A | CA371867306 | VPS13B | c.6639T>A (p.Asn2213Lys) n.6709T>A c.*2321T>A (n.*2321T>A) c.6564T>A (p.Asn2188Lys) c.6636T>A (p.Asn2212Lys) c.6561T>A (p.Asn2187Lys) c.6261T>A (p.Asn2087Lys) c.3525T>A (p.Asn1175Lys) c.2418T>A (p.Asn806Lys) c.6444T>A (p.Asn2148Lys) c.2196T>A (p.Asn732Lys) c.5424T>A (p.Asn1808Lys) | |
| 8 | g.99717280T>C | CA4824029 | VPS13B | c.6639T>C (p.Asn2213=) n.6709T>C c.*2321T>C (n.*2321T>C) c.6564T>C (p.Asn2188=) c.6636T>C (p.Asn2212=) c.6561T>C (p.Asn2187=) c.6261T>C (p.Asn2087=) c.3525T>C (p.Asn1175=) c.2418T>C (p.Asn806=) c.6444T>C (p.Asn2148=) c.2196T>C (p.Asn732=) c.5424T>C (p.Asn1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99717280T>G | CA371867307 | VPS13B | c.6639T>G (p.Asn2213Lys) n.6709T>G c.*2321T>G (n.*2321T>G) c.6564T>G (p.Asn2188Lys) c.6636T>G (p.Asn2212Lys) c.6561T>G (p.Asn2187Lys) c.6261T>G (p.Asn2087Lys) c.3525T>G (p.Asn1175Lys) c.2418T>G (p.Asn806Lys) c.6444T>G (p.Asn2148Lys) c.2196T>G (p.Asn732Lys) c.5424T>G (p.Asn1808Lys) | |
| 8 | g.99717281C>A | CA371867308 | VPS13B | c.6640C>A (p.Leu2214Met) n.6710C>A c.*2322C>A (n.*2322C>A) c.6565C>A (p.Leu2189Met) c.6637C>A (p.Leu2213Met) c.6562C>A (p.Leu2188Met) c.6262C>A (p.Leu2088Met) c.3526C>A (p.Leu1176Met) c.2419C>A (p.Leu807Met) c.6445C>A (p.Leu2149Met) c.2197C>A (p.Leu733Met) c.5425C>A (p.Leu1809Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99717281C>G | CA371867309 | VPS13B | c.6640C>G (p.Leu2214Val) n.6710C>G c.*2322C>G (n.*2322C>G) c.6565C>G (p.Leu2189Val) c.6637C>G (p.Leu2213Val) c.6562C>G (p.Leu2188Val) c.6262C>G (p.Leu2088Val) c.3526C>G (p.Leu1176Val) c.2419C>G (p.Leu807Val) c.6445C>G (p.Leu2149Val) c.2197C>G (p.Leu733Val) c.5425C>G (p.Leu1809Val) | |
| 8 | g.99717281C>T | CA462440268 | VPS13B | c.6640C>T (p.Leu2214=) n.6710C>T c.*2322C>T (n.*2322C>T) c.6565C>T (p.Leu2189=) c.6637C>T (p.Leu2213=) c.6562C>T (p.Leu2188=) c.6262C>T (p.Leu2088=) c.3526C>T (p.Leu1176=) c.2419C>T (p.Leu807=) c.6445C>T (p.Leu2149=) c.2197C>T (p.Leu733=) c.5425C>T (p.Leu1809=) | ClinVar |
| 8 | g.99717282T>A | CA371867310 | VPS13B | c.6641T>A (p.Leu2214Gln) n.6711T>A c.*2323T>A (n.*2323T>A) c.6566T>A (p.Leu2189Gln) c.6638T>A (p.Leu2213Gln) c.6563T>A (p.Leu2188Gln) c.6263T>A (p.Leu2088Gln) c.3527T>A (p.Leu1176Gln) c.2420T>A (p.Leu807Gln) c.6446T>A (p.Leu2149Gln) c.2198T>A (p.Leu733Gln) c.5426T>A (p.Leu1809Gln) | |
| 8 | g.99717282T>C | CA371867311 | VPS13B | c.6641T>C (p.Leu2214Pro) n.6711T>C c.*2323T>C (n.*2323T>C) c.6566T>C (p.Leu2189Pro) c.6638T>C (p.Leu2213Pro) c.6563T>C (p.Leu2188Pro) c.6263T>C (p.Leu2088Pro) c.3527T>C (p.Leu1176Pro) c.2420T>C (p.Leu807Pro) c.6446T>C (p.Leu2149Pro) c.2198T>C (p.Leu733Pro) c.5426T>C (p.Leu1809Pro) | |
| 8 | g.99717282T>G | CA4824030 | VPS13B | c.6641T>G (p.Leu2214Arg) n.6711T>G c.*2323T>G (n.*2323T>G) c.6566T>G (p.Leu2189Arg) c.6638T>G (p.Leu2213Arg) c.6563T>G (p.Leu2188Arg) c.6263T>G (p.Leu2088Arg) c.3527T>G (p.Leu1176Arg) c.2420T>G (p.Leu807Arg) c.6446T>G (p.Leu2149Arg) c.2198T>G (p.Leu733Arg) c.5426T>G (p.Leu1809Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99717283G>A | CA462440269 | VPS13B | c.6642G>A (p.Leu2214=) n.6712G>A c.*2324G>A (n.*2324G>A) c.6567G>A (p.Leu2189=) c.6639G>A (p.Leu2213=) c.6564G>A (p.Leu2188=) c.6264G>A (p.Leu2088=) c.3528G>A (p.Leu1176=) c.2421G>A (p.Leu807=) c.6447G>A (p.Leu2149=) c.2199G>A (p.Leu733=) c.5427G>A (p.Leu1809=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99717283G>C | CA462440270 | VPS13B | c.6642G>C (p.Leu2214=) n.6712G>C c.*2324G>C (n.*2324G>C) c.6567G>C (p.Leu2189=) c.6639G>C (p.Leu2213=) c.6564G>C (p.Leu2188=) c.6264G>C (p.Leu2088=) c.3528G>C (p.Leu1176=) c.2421G>C (p.Leu807=) c.6447G>C (p.Leu2149=) c.2199G>C (p.Leu733=) c.5427G>C (p.Leu1809=) | |
| 8 | g.99717283G>T | CA462440271 | VPS13B | c.6642G>T (p.Leu2214=) n.6712G>T c.*2324G>T (n.*2324G>T) c.6567G>T (p.Leu2189=) c.6639G>T (p.Leu2213=) c.6564G>T (p.Leu2188=) c.6264G>T (p.Leu2088=) c.3528G>T (p.Leu1176=) c.2421G>T (p.Leu807=) c.6447G>T (p.Leu2149=) c.2199G>T (p.Leu733=) c.5427G>T (p.Leu1809=) | |
| 8 | g.99717284G>A | CA371867312 | VPS13B | c.6643G>A (p.Glu2215Lys) n.6713G>A c.*2325G>A (n.*2325G>A) c.6568G>A (p.Glu2190Lys) c.6640G>A (p.Glu2214Lys) c.6565G>A (p.Glu2189Lys) c.6265G>A (p.Glu2089Lys) c.3529G>A (p.Glu1177Lys) c.2422G>A (p.Glu808Lys) c.6448G>A (p.Glu2150Lys) c.2200G>A (p.Glu734Lys) c.5428G>A (p.Glu1810Lys) | gnomAD v4 COSMIC COSMIC |
| 8 | g.99717284G>C | CA371867313 | VPS13B | c.6643G>C (p.Glu2215Gln) n.6713G>C c.*2325G>C (n.*2325G>C) c.6568G>C (p.Glu2190Gln) c.6640G>C (p.Glu2214Gln) c.6565G>C (p.Glu2189Gln) c.6265G>C (p.Glu2089Gln) c.3529G>C (p.Glu1177Gln) c.2422G>C (p.Glu808Gln) c.6448G>C (p.Glu2150Gln) c.2200G>C (p.Glu734Gln) c.5428G>C (p.Glu1810Gln) | |
| 8 | g.99717284G>T | CA371867314 | VPS13B | c.6643G>T (p.Glu2215Ter) n.6713G>T c.*2325G>T (n.*2325G>T) c.6568G>T (p.Glu2190Ter) c.6640G>T (p.Glu2214Ter) c.6565G>T (p.Glu2189Ter) c.6265G>T (p.Glu2089Ter) c.3529G>T (p.Glu1177Ter) c.2422G>T (p.Glu808Ter) c.6448G>T (p.Glu2150Ter) c.2200G>T (p.Glu734Ter) c.5428G>T (p.Glu1810Ter) | |
| 8 | g.99717285A>C | CA371867315 | VPS13B | c.6644A>C (p.Glu2215Ala) n.6714A>C c.*2326A>C (n.*2326A>C) c.6569A>C (p.Glu2190Ala) c.6641A>C (p.Glu2214Ala) c.6566A>C (p.Glu2189Ala) c.6266A>C (p.Glu2089Ala) c.3530A>C (p.Glu1177Ala) c.2423A>C (p.Glu808Ala) c.6449A>C (p.Glu2150Ala) c.2201A>C (p.Glu734Ala) c.5429A>C (p.Glu1810Ala) | |
| 8 | g.99717285A>G | CA371867316 | VPS13B | c.6644A>G (p.Glu2215Gly) n.6714A>G c.*2326A>G (n.*2326A>G) c.6569A>G (p.Glu2190Gly) c.6641A>G (p.Glu2214Gly) c.6566A>G (p.Glu2189Gly) c.6266A>G (p.Glu2089Gly) c.3530A>G (p.Glu1177Gly) c.2423A>G (p.Glu808Gly) c.6449A>G (p.Glu2150Gly) c.2201A>G (p.Glu734Gly) c.5429A>G (p.Glu1810Gly) | gnomAD v4 |
| 8 | g.99717285A>T | CA371867317 | VPS13B | c.6644A>T (p.Glu2215Val) n.6714A>T c.*2326A>T (n.*2326A>T) c.6569A>T (p.Glu2190Val) c.6641A>T (p.Glu2214Val) c.6566A>T (p.Glu2189Val) c.6266A>T (p.Glu2089Val) c.3530A>T (p.Glu1177Val) c.2423A>T (p.Glu808Val) c.6449A>T (p.Glu2150Val) c.2201A>T (p.Glu734Val) c.5429A>T (p.Glu1810Val) | |
| 8 | g.99717286A>C | CA371867319 | VPS13B | c.6645A>C (p.Glu2215Asp) n.6715A>C c.*2327A>C (n.*2327A>C) c.6570A>C (p.Glu2190Asp) c.6642A>C (p.Glu2214Asp) c.6567A>C (p.Glu2189Asp) c.6267A>C (p.Glu2089Asp) c.3531A>C (p.Glu1177Asp) c.2424A>C (p.Glu808Asp) c.6450A>C (p.Glu2150Asp) c.2202A>C (p.Glu734Asp) c.5430A>C (p.Glu1810Asp) | |
| 8 | g.99717286A>G | CA462440272 | VPS13B | c.6645A>G (p.Glu2215=) n.6715A>G c.*2327A>G (n.*2327A>G) c.6570A>G (p.Glu2190=) c.6642A>G (p.Glu2214=) c.6567A>G (p.Glu2189=) c.6267A>G (p.Glu2089=) c.3531A>G (p.Glu1177=) c.2424A>G (p.Glu808=) c.6450A>G (p.Glu2150=) c.2202A>G (p.Glu734=) c.5430A>G (p.Glu1810=) | ClinVar dbSNP |
| 8 | g.99717286A>T | CA371867318 | VPS13B | c.6645A>T (p.Glu2215Asp) n.6715A>T c.*2327A>T (n.*2327A>T) c.6570A>T (p.Glu2190Asp) c.6642A>T (p.Glu2214Asp) c.6567A>T (p.Glu2189Asp) c.6267A>T (p.Glu2089Asp) c.3531A>T (p.Glu1177Asp) c.2424A>T (p.Glu808Asp) c.6450A>T (p.Glu2150Asp) c.2202A>T (p.Glu734Asp) c.5430A>T (p.Glu1810Asp) | |
| 8 | g.99717287G>A | CA371867320 | VPS13B | c.6646G>A (p.Ala2216Thr) n.6716G>A c.*2328G>A (n.*2328G>A) c.6571G>A (p.Ala2191Thr) c.6643G>A (p.Ala2215Thr) c.6568G>A (p.Ala2190Thr) c.6268G>A (p.Ala2090Thr) c.3532G>A (p.Ala1178Thr) c.2425G>A (p.Ala809Thr) c.6451G>A (p.Ala2151Thr) c.2203G>A (p.Ala735Thr) c.5431G>A (p.Ala1811Thr) | dbSNP gnomAD v4 |