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.99720516del | CA16041248 | VPS13B | c.6904del (p.Leu2302TyrfsTer15) n.6974del c.*2586del (n.*2586del) c.6829del (p.Leu2277TyrfsTer15) c.6901del (p.Leu2301TyrfsTer15) c.6826del (p.Leu2276TyrfsTer15) c.6526del (p.Leu2176TyrfsTer15) c.3790del (p.Leu1264TyrfsTer15) c.2683del (p.Leu895TyrfsTer15) n.2066-1302del c.6709del (p.Leu2237TyrfsTer15) c.2461del (p.Leu821TyrfsTer15) c.5689del (p.Leu1897TyrfsTer15) | ClinVar dbSNP |
| 8 | g.99720516C>A | CA371867907 | VPS13B | c.6904C>A (p.Leu2302Ile) n.6974C>A c.*2586C>A (n.*2586C>A) c.6829C>A (p.Leu2277Ile) c.6901C>A (p.Leu2301Ile) c.6826C>A (p.Leu2276Ile) c.6526C>A (p.Leu2176Ile) c.3790C>A (p.Leu1264Ile) c.2683C>A (p.Leu895Ile) n.2066-1303G>T c.6709C>A (p.Leu2237Ile) c.2461C>A (p.Leu821Ile) c.5689C>A (p.Leu1897Ile) | |
| 8 | g.99720516C>G | CA371867908 | VPS13B | c.6904C>G (p.Leu2302Val) n.6974C>G c.*2586C>G (n.*2586C>G) c.6829C>G (p.Leu2277Val) c.6901C>G (p.Leu2301Val) c.6826C>G (p.Leu2276Val) c.6526C>G (p.Leu2176Val) c.3790C>G (p.Leu1264Val) c.2683C>G (p.Leu895Val) n.2066-1303G>C c.6709C>G (p.Leu2237Val) c.2461C>G (p.Leu821Val) c.5689C>G (p.Leu1897Val) | gnomAD v4 |
| 8 | g.99720516C>T | CA462440843 | VPS13B | c.6904C>T (p.Leu2302=) n.6974C>T c.*2586C>T (n.*2586C>T) c.6829C>T (p.Leu2277=) c.6901C>T (p.Leu2301=) c.6826C>T (p.Leu2276=) c.6526C>T (p.Leu2176=) c.3790C>T (p.Leu1264=) c.2683C>T (p.Leu895=) n.2066-1303G>A c.6709C>T (p.Leu2237=) c.2461C>T (p.Leu821=) c.5689C>T (p.Leu1897=) | |
| 8 | g.99720517T>A | CA371867909 | VPS13B | c.6905T>A (p.Leu2302Gln) n.6975T>A c.*2587T>A (n.*2587T>A) c.6830T>A (p.Leu2277Gln) c.6902T>A (p.Leu2301Gln) c.6827T>A (p.Leu2276Gln) c.6527T>A (p.Leu2176Gln) c.3791T>A (p.Leu1264Gln) c.2684T>A (p.Leu895Gln) n.2066-1304A>T c.6710T>A (p.Leu2237Gln) c.2462T>A (p.Leu821Gln) c.5690T>A (p.Leu1897Gln) | |
| 8 | g.99720517T>C | CA371867910 | VPS13B | c.6905T>C (p.Leu2302Pro) n.6975T>C c.*2587T>C (n.*2587T>C) c.6830T>C (p.Leu2277Pro) c.6902T>C (p.Leu2301Pro) c.6827T>C (p.Leu2276Pro) c.6527T>C (p.Leu2176Pro) c.3791T>C (p.Leu1264Pro) c.2684T>C (p.Leu895Pro) n.2066-1304A>G c.6710T>C (p.Leu2237Pro) c.2462T>C (p.Leu821Pro) c.5690T>C (p.Leu1897Pro) | dbSNP |
| 8 | g.99720517T>G | CA371867911 | VPS13B | c.6905T>G (p.Leu2302Arg) n.6975T>G c.*2587T>G (n.*2587T>G) c.6830T>G (p.Leu2277Arg) c.6902T>G (p.Leu2301Arg) c.6827T>G (p.Leu2276Arg) c.6527T>G (p.Leu2176Arg) c.3791T>G (p.Leu1264Arg) c.2684T>G (p.Leu895Arg) n.2066-1304A>C c.6710T>G (p.Leu2237Arg) c.2462T>G (p.Leu821Arg) c.5690T>G (p.Leu1897Arg) | |
| 8 | g.99720518A>C | CA462440846 | VPS13B | c.6906A>C (p.Leu2302=) n.6976A>C c.*2588A>C (n.*2588A>C) c.6831A>C (p.Leu2277=) c.6903A>C (p.Leu2301=) c.6828A>C (p.Leu2276=) c.6528A>C (p.Leu2176=) c.3792A>C (p.Leu1264=) c.2685A>C (p.Leu895=) n.2066-1305T>G c.6711A>C (p.Leu2237=) c.2463A>C (p.Leu821=) c.5691A>C (p.Leu1897=) | |
| 8 | g.99720518A>G | CA462440845 | VPS13B | c.6906A>G (p.Leu2302=) n.6976A>G c.*2588A>G (n.*2588A>G) c.6831A>G (p.Leu2277=) c.6903A>G (p.Leu2301=) c.6828A>G (p.Leu2276=) c.6528A>G (p.Leu2176=) c.3792A>G (p.Leu1264=) c.2685A>G (p.Leu895=) n.2066-1305T>C c.6711A>G (p.Leu2237=) c.2463A>G (p.Leu821=) c.5691A>G (p.Leu1897=) | |
| 8 | g.99720518A>T | CA462440844 | VPS13B | c.6906A>T (p.Leu2302=) n.6976A>T c.*2588A>T (n.*2588A>T) c.6831A>T (p.Leu2277=) c.6903A>T (p.Leu2301=) c.6828A>T (p.Leu2276=) c.6528A>T (p.Leu2176=) c.3792A>T (p.Leu1264=) c.2685A>T (p.Leu895=) n.2066-1305T>A c.6711A>T (p.Leu2237=) c.2463A>T (p.Leu821=) c.5691A>T (p.Leu1897=) | |
| 8 | g.99720519C>A | CA462440847 | VPS13B | c.6907C>A (p.Arg2303=) n.6977C>A c.*2589C>A (n.*2589C>A) c.6832C>A (p.Arg2278=) c.6904C>A (p.Arg2302=) c.6829C>A (p.Arg2277=) c.6529C>A (p.Arg2177=) c.3793C>A (p.Arg1265=) c.2686C>A (p.Arg896=) n.2066-1306G>T c.6712C>A (p.Arg2238=) c.2464C>A (p.Arg822=) c.5692C>A (p.Arg1898=) | |
| 8 | g.99720519C>G | CA371867912 | VPS13B | c.6907C>G (p.Arg2303Gly) n.6977C>G c.*2589C>G (n.*2589C>G) c.6832C>G (p.Arg2278Gly) c.6904C>G (p.Arg2302Gly) c.6829C>G (p.Arg2277Gly) c.6529C>G (p.Arg2177Gly) c.3793C>G (p.Arg1265Gly) c.2686C>G (p.Arg896Gly) n.2066-1306G>C c.6712C>G (p.Arg2238Gly) c.2464C>G (p.Arg822Gly) c.5692C>G (p.Arg1898Gly) | |
| 8 | g.99720519C>T | CA4824094 | VPS13B | c.6907C>T (p.Arg2303Trp) n.6977C>T c.*2589C>T (n.*2589C>T) c.6832C>T (p.Arg2278Trp) c.6904C>T (p.Arg2302Trp) c.6829C>T (p.Arg2277Trp) c.6529C>T (p.Arg2177Trp) c.3793C>T (p.Arg1265Trp) c.2686C>T (p.Arg896Trp) n.2066-1306G>A c.6712C>T (p.Arg2238Trp) c.2464C>T (p.Arg822Trp) c.5692C>T (p.Arg1898Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99720520G>A | CA4824095 | VPS13B | c.6908G>A (p.Arg2303Gln) n.6978G>A c.*2590G>A (n.*2590G>A) c.6833G>A (p.Arg2278Gln) c.6905G>A (p.Arg2302Gln) c.6830G>A (p.Arg2277Gln) c.6530G>A (p.Arg2177Gln) c.3794G>A (p.Arg1265Gln) c.2687G>A (p.Arg896Gln) n.2066-1307C>T c.6713G>A (p.Arg2238Gln) c.2465G>A (p.Arg822Gln) c.5693G>A (p.Arg1898Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99720520G>C | CA371867913 | VPS13B | c.6908G>C (p.Arg2303Pro) n.6978G>C c.*2590G>C (n.*2590G>C) c.6833G>C (p.Arg2278Pro) c.6905G>C (p.Arg2302Pro) c.6830G>C (p.Arg2277Pro) c.6530G>C (p.Arg2177Pro) c.3794G>C (p.Arg1265Pro) c.2687G>C (p.Arg896Pro) n.2066-1307C>G c.6713G>C (p.Arg2238Pro) c.2465G>C (p.Arg822Pro) c.5693G>C (p.Arg1898Pro) | COSMIC COSMIC |
| 8 | g.99720520G>T | CA371867914 | VPS13B | c.6908G>T (p.Arg2303Leu) n.6978G>T c.*2590G>T (n.*2590G>T) c.6833G>T (p.Arg2278Leu) c.6905G>T (p.Arg2302Leu) c.6830G>T (p.Arg2277Leu) c.6530G>T (p.Arg2177Leu) c.3794G>T (p.Arg1265Leu) c.2687G>T (p.Arg896Leu) n.2066-1307C>A c.6713G>T (p.Arg2238Leu) c.2465G>T (p.Arg822Leu) c.5693G>T (p.Arg1898Leu) | |
| 8 | g.99720521dup | CA2516127681 | VPS13B | c.6909dup (p.Thr2304AspfsTer11) n.6979dup c.*2591dup (n.*2591dup) c.6834dup (p.Thr2279AspfsTer11) c.6906dup (p.Thr2303AspfsTer11) c.6831dup (p.Thr2278AspfsTer11) c.6531dup (p.Thr2178AspfsTer11) c.3795dup (p.Thr1266AspfsTer11) c.2688dup (p.Thr897AspfsTer11) n.2066-1307dup c.6714dup (p.Thr2239AspfsTer11) c.2466dup (p.Thr823AspfsTer11) c.5694dup (p.Thr1899AspfsTer11) | ClinVar gnomAD v4 |
| 8 | g.99720521G>A | CA462440851 | VPS13B | c.6909G>A (p.Arg2303=) n.6979G>A c.*2591G>A (n.*2591G>A) c.6834G>A (p.Arg2278=) c.6906G>A (p.Arg2302=) c.6831G>A (p.Arg2277=) c.6531G>A (p.Arg2177=) c.3795G>A (p.Arg1265=) c.2688G>A (p.Arg896=) n.2066-1308C>T c.6714G>A (p.Arg2238=) c.2466G>A (p.Arg822=) c.5694G>A (p.Arg1898=) | ClinVar dbSNP |
| 8 | g.99720521G>C | CA462440850 | VPS13B | c.6909G>C (p.Arg2303=) n.6979G>C c.*2591G>C (n.*2591G>C) c.6834G>C (p.Arg2278=) c.6906G>C (p.Arg2302=) c.6831G>C (p.Arg2277=) c.6531G>C (p.Arg2177=) c.3795G>C (p.Arg1265=) c.2688G>C (p.Arg896=) n.2066-1308C>G c.6714G>C (p.Arg2238=) c.2466G>C (p.Arg822=) c.5694G>C (p.Arg1898=) | |
| 8 | g.99720521G>T | CA462440849 | VPS13B | c.6909G>T (p.Arg2303=) n.6979G>T c.*2591G>T (n.*2591G>T) c.6834G>T (p.Arg2278=) c.6906G>T (p.Arg2302=) c.6831G>T (p.Arg2277=) c.6531G>T (p.Arg2177=) c.3795G>T (p.Arg1265=) c.2688G>T (p.Arg896=) n.2066-1308C>A c.6714G>T (p.Arg2238=) c.2466G>T (p.Arg822=) c.5694G>T (p.Arg1898=) | |
| 8 | g.99720522A>C | CA371867915 | VPS13B | c.6910A>C (p.Thr2304Pro) n.6980A>C c.*2592A>C (n.*2592A>C) c.6835A>C (p.Thr2279Pro) c.6907A>C (p.Thr2303Pro) c.6832A>C (p.Thr2278Pro) c.6532A>C (p.Thr2178Pro) c.3796A>C (p.Thr1266Pro) c.2689A>C (p.Thr897Pro) n.2066-1309T>G c.6715A>C (p.Thr2239Pro) c.2467A>C (p.Thr823Pro) c.5695A>C (p.Thr1899Pro) | |
| 8 | g.99720522A>G | CA371867916 | VPS13B | c.6910A>G (p.Thr2304Ala) n.6980A>G c.*2592A>G (n.*2592A>G) c.6835A>G (p.Thr2279Ala) c.6907A>G (p.Thr2303Ala) c.6832A>G (p.Thr2278Ala) c.6532A>G (p.Thr2178Ala) c.3796A>G (p.Thr1266Ala) c.2689A>G (p.Thr897Ala) n.2066-1309T>C c.6715A>G (p.Thr2239Ala) c.2467A>G (p.Thr823Ala) c.5695A>G (p.Thr1899Ala) | |
| 8 | g.99720522A>T | CA371867917 | VPS13B | c.6910A>T (p.Thr2304Ser) n.6980A>T c.*2592A>T (n.*2592A>T) c.6835A>T (p.Thr2279Ser) c.6907A>T (p.Thr2303Ser) c.6832A>T (p.Thr2278Ser) c.6532A>T (p.Thr2178Ser) c.3796A>T (p.Thr1266Ser) c.2689A>T (p.Thr897Ser) n.2066-1309T>A c.6715A>T (p.Thr2239Ser) c.2467A>T (p.Thr823Ser) c.5695A>T (p.Thr1899Ser) | |
| 8 | g.99720523C>A | CA371867920 | VPS13B | c.6911C>A (p.Thr2304Lys) n.6981C>A c.*2593C>A (n.*2593C>A) c.6836C>A (p.Thr2279Lys) c.6908C>A (p.Thr2303Lys) c.6833C>A (p.Thr2278Lys) c.6533C>A (p.Thr2178Lys) c.3797C>A (p.Thr1266Lys) c.2690C>A (p.Thr897Lys) n.2066-1310G>T c.6716C>A (p.Thr2239Lys) c.2468C>A (p.Thr823Lys) c.5696C>A (p.Thr1899Lys) | gnomAD v4 |
| 8 | g.99720523C>G | CA371867919 | VPS13B | c.6911C>G (p.Thr2304Arg) n.6981C>G c.*2593C>G (n.*2593C>G) c.6836C>G (p.Thr2279Arg) c.6908C>G (p.Thr2303Arg) c.6833C>G (p.Thr2278Arg) c.6533C>G (p.Thr2178Arg) c.3797C>G (p.Thr1266Arg) c.2690C>G (p.Thr897Arg) n.2066-1310G>C c.6716C>G (p.Thr2239Arg) c.2468C>G (p.Thr823Arg) c.5696C>G (p.Thr1899Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99720523C>T | CA371867918 | VPS13B | c.6911C>T (p.Thr2304Ile) n.6981C>T c.*2593C>T (n.*2593C>T) c.6836C>T (p.Thr2279Ile) c.6908C>T (p.Thr2303Ile) c.6833C>T (p.Thr2278Ile) c.6533C>T (p.Thr2178Ile) c.3797C>T (p.Thr1266Ile) c.2690C>T (p.Thr897Ile) n.2066-1310G>A c.6716C>T (p.Thr2239Ile) c.2468C>T (p.Thr823Ile) c.5696C>T (p.Thr1899Ile) | |
| 8 | g.99720524A>C | CA462440853 | VPS13B | c.6912A>C (p.Thr2304=) n.6982A>C c.*2594A>C (n.*2594A>C) c.6837A>C (p.Thr2279=) c.6909A>C (p.Thr2303=) c.6834A>C (p.Thr2278=) c.6534A>C (p.Thr2178=) c.3798A>C (p.Thr1266=) c.2691A>C (p.Thr897=) n.2066-1311T>G c.6717A>C (p.Thr2239=) c.2469A>C (p.Thr823=) c.5697A>C (p.Thr1899=) | |
| 8 | g.99720524A>G | CA462440855 | VPS13B | c.6912A>G (p.Thr2304=) n.6982A>G c.*2594A>G (n.*2594A>G) c.6837A>G (p.Thr2279=) c.6909A>G (p.Thr2303=) c.6834A>G (p.Thr2278=) c.6534A>G (p.Thr2178=) c.3798A>G (p.Thr1266=) c.2691A>G (p.Thr897=) n.2066-1311T>C c.6717A>G (p.Thr2239=) c.2469A>G (p.Thr823=) c.5697A>G (p.Thr1899=) | |
| 8 | g.99720524A>T | CA462440854 | VPS13B | c.6912A>T (p.Thr2304=) n.6982A>T c.*2594A>T (n.*2594A>T) c.6837A>T (p.Thr2279=) c.6909A>T (p.Thr2303=) c.6834A>T (p.Thr2278=) c.6534A>T (p.Thr2178=) c.3798A>T (p.Thr1266=) c.2691A>T (p.Thr897=) n.2066-1311T>A c.6717A>T (p.Thr2239=) c.2469A>T (p.Thr823=) c.5697A>T (p.Thr1899=) | ClinVar |
| 8 | g.99720525G>A | CA371867921 | VPS13B | c.6913G>A (p.Gly2305Ser) n.6983G>A c.*2595G>A (n.*2595G>A) c.6838G>A (p.Gly2280Ser) c.6910G>A (p.Gly2304Ser) c.6835G>A (p.Gly2279Ser) c.6535G>A (p.Gly2179Ser) c.3799G>A (p.Gly1267Ser) c.2692G>A (p.Gly898Ser) n.2066-1312C>T c.6718G>A (p.Gly2240Ser) c.2470G>A (p.Gly824Ser) c.5698G>A (p.Gly1900Ser) | COSMIC COSMIC |
| 8 | g.99720525G>C | CA371867922 | VPS13B | c.6913G>C (p.Gly2305Arg) n.6983G>C c.*2595G>C (n.*2595G>C) c.6838G>C (p.Gly2280Arg) c.6910G>C (p.Gly2304Arg) c.6835G>C (p.Gly2279Arg) c.6535G>C (p.Gly2179Arg) c.3799G>C (p.Gly1267Arg) c.2692G>C (p.Gly898Arg) n.2066-1312C>G c.6718G>C (p.Gly2240Arg) c.2470G>C (p.Gly824Arg) c.5698G>C (p.Gly1900Arg) | |
| 8 | g.99720525G>T | CA371867923 | VPS13B | c.6913G>T (p.Gly2305Cys) n.6983G>T c.*2595G>T (n.*2595G>T) c.6838G>T (p.Gly2280Cys) c.6910G>T (p.Gly2304Cys) c.6835G>T (p.Gly2279Cys) c.6535G>T (p.Gly2179Cys) c.3799G>T (p.Gly1267Cys) c.2692G>T (p.Gly898Cys) n.2066-1312C>A c.6718G>T (p.Gly2240Cys) c.2470G>T (p.Gly824Cys) c.5698G>T (p.Gly1900Cys) | |
| 8 | g.99720526G>A | CA371867924 | VPS13B | c.6914G>A (p.Gly2305Asp) n.6984G>A c.*2596G>A (n.*2596G>A) c.6839G>A (p.Gly2280Asp) c.6911G>A (p.Gly2304Asp) c.6836G>A (p.Gly2279Asp) c.6536G>A (p.Gly2179Asp) c.3800G>A (p.Gly1267Asp) c.2693G>A (p.Gly898Asp) n.2066-1313C>T c.6719G>A (p.Gly2240Asp) c.2471G>A (p.Gly824Asp) c.5699G>A (p.Gly1900Asp) | |
| 8 | g.99720526G>C | CA371867925 | VPS13B | c.6914G>C (p.Gly2305Ala) n.6984G>C c.*2596G>C (n.*2596G>C) c.6839G>C (p.Gly2280Ala) c.6911G>C (p.Gly2304Ala) c.6836G>C (p.Gly2279Ala) c.6536G>C (p.Gly2179Ala) c.3800G>C (p.Gly1267Ala) c.2693G>C (p.Gly898Ala) n.2066-1313C>G c.6719G>C (p.Gly2240Ala) c.2471G>C (p.Gly824Ala) c.5699G>C (p.Gly1900Ala) | |
| 8 | g.99720526G>T | CA371867926 | VPS13B | c.6914G>T (p.Gly2305Val) n.6984G>T c.*2596G>T (n.*2596G>T) c.6839G>T (p.Gly2280Val) c.6911G>T (p.Gly2304Val) c.6836G>T (p.Gly2279Val) c.6536G>T (p.Gly2179Val) c.3800G>T (p.Gly1267Val) c.2693G>T (p.Gly898Val) n.2066-1313C>A c.6719G>T (p.Gly2240Val) c.2471G>T (p.Gly824Val) c.5699G>T (p.Gly1900Val) | gnomAD v4 |
| 8 | g.99720527T>A | CA462440856 | VPS13B | c.6915T>A (p.Gly2305=) n.6985T>A c.*2597T>A (n.*2597T>A) c.6840T>A (p.Gly2280=) c.6912T>A (p.Gly2304=) c.6837T>A (p.Gly2279=) c.6537T>A (p.Gly2179=) c.3801T>A (p.Gly1267=) c.2694T>A (p.Gly898=) n.2066-1314A>T c.6720T>A (p.Gly2240=) c.2472T>A (p.Gly824=) c.5700T>A (p.Gly1900=) | |
| 8 | g.99720527T>C | CA462440857 | VPS13B | c.6915T>C (p.Gly2305=) n.6985T>C c.*2597T>C (n.*2597T>C) c.6840T>C (p.Gly2280=) c.6912T>C (p.Gly2304=) c.6837T>C (p.Gly2279=) c.6537T>C (p.Gly2179=) c.3801T>C (p.Gly1267=) c.2694T>C (p.Gly898=) n.2066-1314A>G c.6720T>C (p.Gly2240=) c.2472T>C (p.Gly824=) c.5700T>C (p.Gly1900=) | |
| 8 | g.99720527T>G | CA462440858 | VPS13B | c.6915T>G (p.Gly2305=) n.6985T>G c.*2597T>G (n.*2597T>G) c.6840T>G (p.Gly2280=) c.6912T>G (p.Gly2304=) c.6837T>G (p.Gly2279=) c.6537T>G (p.Gly2179=) c.3801T>G (p.Gly1267=) c.2694T>G (p.Gly898=) n.2066-1314A>C c.6720T>G (p.Gly2240=) c.2472T>G (p.Gly824=) c.5700T>G (p.Gly1900=) | |
| 8 | g.99720528C>A | CA371867928 | VPS13B | c.6916C>A (p.Leu2306Ile) n.6986C>A c.*2598C>A (n.*2598C>A) c.6841C>A (p.Leu2281Ile) c.6913C>A (p.Leu2305Ile) c.6838C>A (p.Leu2280Ile) c.6538C>A (p.Leu2180Ile) c.3802C>A (p.Leu1268Ile) c.2695C>A (p.Leu899Ile) n.2066-1315G>T c.6721C>A (p.Leu2241Ile) c.2473C>A (p.Leu825Ile) c.5701C>A (p.Leu1901Ile) | |
| 8 | g.99720528C>G | CA371867927 | VPS13B | c.6916C>G (p.Leu2306Val) n.6986C>G c.*2598C>G (n.*2598C>G) c.6841C>G (p.Leu2281Val) c.6913C>G (p.Leu2305Val) c.6838C>G (p.Leu2280Val) c.6538C>G (p.Leu2180Val) c.3802C>G (p.Leu1268Val) c.2695C>G (p.Leu899Val) n.2066-1315G>C c.6721C>G (p.Leu2241Val) c.2473C>G (p.Leu825Val) c.5701C>G (p.Leu1901Val) | gnomAD v4 |
| 8 | g.99720528C>T | CA462440860 | VPS13B | c.6916C>T (p.Leu2306=) n.6986C>T c.*2598C>T (n.*2598C>T) c.6841C>T (p.Leu2281=) c.6913C>T (p.Leu2305=) c.6838C>T (p.Leu2280=) c.6538C>T (p.Leu2180=) c.3802C>T (p.Leu1268=) c.2695C>T (p.Leu899=) n.2066-1315G>A c.6721C>T (p.Leu2241=) c.2473C>T (p.Leu825=) c.5701C>T (p.Leu1901=) | COSMIC COSMIC |
| 8 | g.99720529T>A | CA371867929 | VPS13B | c.6917T>A (p.Leu2306Gln) n.6987T>A c.*2599T>A (n.*2599T>A) c.6842T>A (p.Leu2281Gln) c.6914T>A (p.Leu2305Gln) c.6839T>A (p.Leu2280Gln) c.6539T>A (p.Leu2180Gln) c.3803T>A (p.Leu1268Gln) c.2696T>A (p.Leu899Gln) n.2066-1316A>T c.6722T>A (p.Leu2241Gln) c.2474T>A (p.Leu825Gln) c.5702T>A (p.Leu1901Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99720529T>C | CA371867930 | VPS13B | c.6917T>C (p.Leu2306Pro) n.6987T>C c.*2599T>C (n.*2599T>C) c.6842T>C (p.Leu2281Pro) c.6914T>C (p.Leu2305Pro) c.6839T>C (p.Leu2280Pro) c.6539T>C (p.Leu2180Pro) c.3803T>C (p.Leu1268Pro) c.2696T>C (p.Leu899Pro) n.2066-1316A>G c.6722T>C (p.Leu2241Pro) c.2474T>C (p.Leu825Pro) c.5702T>C (p.Leu1901Pro) | |
| 8 | g.99720529T>G | CA371867931 | VPS13B | c.6917T>G (p.Leu2306Arg) n.6987T>G c.*2599T>G (n.*2599T>G) c.6842T>G (p.Leu2281Arg) c.6914T>G (p.Leu2305Arg) c.6839T>G (p.Leu2280Arg) c.6539T>G (p.Leu2180Arg) c.3803T>G (p.Leu1268Arg) c.2696T>G (p.Leu899Arg) n.2066-1316A>C c.6722T>G (p.Leu2241Arg) c.2474T>G (p.Leu825Arg) c.5702T>G (p.Leu1901Arg) | |
| 8 | g.99720530A>C | CA462440861 | VPS13B | c.6918A>C (p.Leu2306=) n.6988A>C c.*2600A>C (n.*2600A>C) c.6843A>C (p.Leu2281=) c.6915A>C (p.Leu2305=) c.6840A>C (p.Leu2280=) c.6540A>C (p.Leu2180=) c.3804A>C (p.Leu1268=) c.2697A>C (p.Leu899=) n.2066-1317T>G c.6723A>C (p.Leu2241=) c.2475A>C (p.Leu825=) c.5703A>C (p.Leu1901=) | |
| 8 | g.99720530A>G | CA462440862 | VPS13B | c.6918A>G (p.Leu2306=) n.6988A>G c.*2600A>G (n.*2600A>G) c.6843A>G (p.Leu2281=) c.6915A>G (p.Leu2305=) c.6840A>G (p.Leu2280=) c.6540A>G (p.Leu2180=) c.3804A>G (p.Leu1268=) c.2697A>G (p.Leu899=) n.2066-1317T>C c.6723A>G (p.Leu2241=) c.2475A>G (p.Leu825=) c.5703A>G (p.Leu1901=) | COSMIC COSMIC |
| 8 | g.99720530A>T | CA462440863 | VPS13B | c.6918A>T (p.Leu2306=) n.6988A>T c.*2600A>T (n.*2600A>T) c.6843A>T (p.Leu2281=) c.6915A>T (p.Leu2305=) c.6840A>T (p.Leu2280=) c.6540A>T (p.Leu2180=) c.3804A>T (p.Leu1268=) c.2697A>T (p.Leu899=) n.2066-1317T>A c.6723A>T (p.Leu2241=) c.2475A>T (p.Leu825=) c.5703A>T (p.Leu1901=) | |
| 8 | g.99720531T>A | CA371867932 | VPS13B | c.6919T>A (p.Phe2307Ile) n.6989T>A c.*2601T>A (n.*2601T>A) c.6844T>A (p.Phe2282Ile) c.6916T>A (p.Phe2306Ile) c.6841T>A (p.Phe2281Ile) c.6541T>A (p.Phe2181Ile) c.3805T>A (p.Phe1269Ile) c.2698T>A (p.Phe900Ile) n.2066-1318A>T c.6724T>A (p.Phe2242Ile) c.2476T>A (p.Phe826Ile) c.5704T>A (p.Phe1902Ile) | |
| 8 | g.99720531T>C | CA371867933 | VPS13B | c.6919T>C (p.Phe2307Leu) n.6989T>C c.*2601T>C (n.*2601T>C) c.6844T>C (p.Phe2282Leu) c.6916T>C (p.Phe2306Leu) c.6841T>C (p.Phe2281Leu) c.6541T>C (p.Phe2181Leu) c.3805T>C (p.Phe1269Leu) c.2698T>C (p.Phe900Leu) n.2066-1318A>G c.6724T>C (p.Phe2242Leu) c.2476T>C (p.Phe826Leu) c.5704T>C (p.Phe1902Leu) | |
| 8 | g.99720531T>G | CA371867934 | VPS13B | c.6919T>G (p.Phe2307Val) n.6989T>G c.*2601T>G (n.*2601T>G) c.6844T>G (p.Phe2282Val) c.6916T>G (p.Phe2306Val) c.6841T>G (p.Phe2281Val) c.6541T>G (p.Phe2181Val) c.3805T>G (p.Phe1269Val) c.2698T>G (p.Phe900Val) n.2066-1318A>C c.6724T>G (p.Phe2242Val) c.2476T>G (p.Phe826Val) c.5704T>G (p.Phe1902Val) |