Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99642007dupCA2695209960VPS13Bc.5492dup (p.Asn1831LysfsTer8)
n.5562dup
c.*1174dup (n.*1174dup)
c.5417dup (p.Asn1806LysfsTer8)
c.5489dup (p.Asn1830LysfsTer8)
c.5414dup (p.Asn1805LysfsTer8)
c.5114dup (p.Asn1705LysfsTer8)
c.2378dup (p.Asn793LysfsTer8)
c.1271dup (p.Asn424LysfsTer8)
c.5297dup (p.Asn1766LysfsTer8)
c.1049dup (p.Asn350LysfsTer8)
c.4277dup (p.Asn1426LysfsTer8)
n.5453dup
8g.99642005A>CCA371872498VPS13Bc.5490A>C (p.Lys1830Asn)
n.5560A>C
c.*1172A>C (n.*1172A>C)
c.5415A>C (p.Lys1805Asn)
c.5487A>C (p.Lys1829Asn)
c.5412A>C (p.Lys1804Asn)
c.5112A>C (p.Lys1704Asn)
c.2376A>C (p.Lys792Asn)
c.1269A>C (p.Lys423Asn)
c.5295A>C (p.Lys1765Asn)
c.1047A>C (p.Lys349Asn)
c.4275A>C (p.Lys1425Asn)
n.5451A>C
8g.99642005A>GCA462464387VPS13Bc.5490A>G (p.Lys1830=)
n.5560A>G
c.*1172A>G (n.*1172A>G)
c.5415A>G (p.Lys1805=)
c.5487A>G (p.Lys1829=)
c.5412A>G (p.Lys1804=)
c.5112A>G (p.Lys1704=)
c.2376A>G (p.Lys792=)
c.1269A>G (p.Lys423=)
c.5295A>G (p.Lys1765=)
c.1047A>G (p.Lys349=)
c.4275A>G (p.Lys1425=)
n.5451A>G
8g.99642005A>TCA371872499VPS13Bc.5490A>T (p.Lys1830Asn)
n.5560A>T
c.*1172A>T (n.*1172A>T)
c.5415A>T (p.Lys1805Asn)
c.5487A>T (p.Lys1829Asn)
c.5412A>T (p.Lys1804Asn)
c.5112A>T (p.Lys1704Asn)
c.2376A>T (p.Lys792Asn)
c.1269A>T (p.Lys423Asn)
c.5295A>T (p.Lys1765Asn)
c.1047A>T (p.Lys349Asn)
c.4275A>T (p.Lys1425Asn)
n.5451A>T
8g.99642006A>CCA371872500VPS13Bc.5491A>C (p.Asn1831His)
n.5561A>C
c.*1173A>C (n.*1173A>C)
c.5416A>C (p.Asn1806His)
c.5488A>C (p.Asn1830His)
c.5413A>C (p.Asn1805His)
c.5113A>C (p.Asn1705His)
c.2377A>C (p.Asn793His)
c.1270A>C (p.Asn424His)
c.5296A>C (p.Asn1766His)
c.1048A>C (p.Asn350His)
c.4276A>C (p.Asn1426His)
n.5452A>C
8g.99642006A>GCA371872501VPS13Bc.5491A>G (p.Asn1831Asp)
n.5561A>G
c.*1173A>G (n.*1173A>G)
c.5416A>G (p.Asn1806Asp)
c.5488A>G (p.Asn1830Asp)
c.5413A>G (p.Asn1805Asp)
c.5113A>G (p.Asn1705Asp)
c.2377A>G (p.Asn793Asp)
c.1270A>G (p.Asn424Asp)
c.5296A>G (p.Asn1766Asp)
c.1048A>G (p.Asn350Asp)
c.4276A>G (p.Asn1426Asp)
n.5452A>G
8g.99642006A>TCA371872502VPS13Bc.5491A>T (p.Asn1831Tyr)
n.5561A>T
c.*1173A>T (n.*1173A>T)
c.5416A>T (p.Asn1806Tyr)
c.5488A>T (p.Asn1830Tyr)
c.5413A>T (p.Asn1805Tyr)
c.5113A>T (p.Asn1705Tyr)
c.2377A>T (p.Asn793Tyr)
c.1270A>T (p.Asn424Tyr)
c.5296A>T (p.Asn1766Tyr)
c.1048A>T (p.Asn350Tyr)
c.4276A>T (p.Asn1426Tyr)
n.5452A>T
8g.99642007A=CA1805820973VPS13Bc.5492A= (p.Asn1831=)
n.5562A=
c.*1174A= (n.*1174A=)
c.5417A= (p.Asn1806=)
c.5489A= (p.Asn1830=)
c.5414A= (p.Asn1805=)
c.5114A= (p.Asn1705=)
c.2378A= (p.Asn793=)
c.1271A= (p.Asn424=)
c.5297A= (p.Asn1766=)
c.1049A= (p.Asn350=)
c.4277A= (p.Asn1426=)
n.5453A=
8g.99642007A>CCA371872503VPS13Bc.5492A>C (p.Asn1831Thr)
n.5562A>C
c.*1174A>C (n.*1174A>C)
c.5417A>C (p.Asn1806Thr)
c.5489A>C (p.Asn1830Thr)
c.5414A>C (p.Asn1805Thr)
c.5114A>C (p.Asn1705Thr)
c.2378A>C (p.Asn793Thr)
c.1271A>C (p.Asn424Thr)
c.5297A>C (p.Asn1766Thr)
c.1049A>C (p.Asn350Thr)
c.4277A>C (p.Asn1426Thr)
n.5453A>C
8g.99642007A>GCA371872504VPS13Bc.5492A>G (p.Asn1831Ser)
n.5562A>G
c.*1174A>G (n.*1174A>G)
c.5417A>G (p.Asn1806Ser)
c.5489A>G (p.Asn1830Ser)
c.5414A>G (p.Asn1805Ser)
c.5114A>G (p.Asn1705Ser)
c.2378A>G (p.Asn793Ser)
c.1271A>G (p.Asn424Ser)
c.5297A>G (p.Asn1766Ser)
c.1049A>G (p.Asn350Ser)
c.4277A>G (p.Asn1426Ser)
n.5453A>G
 COSMIC
8g.99642007A>TCA4823821VPS13Bc.5492A>T (p.Asn1831Ile)
n.5562A>T
c.*1174A>T (n.*1174A>T)
c.5417A>T (p.Asn1806Ile)
c.5489A>T (p.Asn1830Ile)
c.5414A>T (p.Asn1805Ile)
c.5114A>T (p.Asn1705Ile)
c.2378A>T (p.Asn793Ile)
c.1271A>T (p.Asn424Ile)
c.5297A>T (p.Asn1766Ile)
c.1049A>T (p.Asn350Ile)
c.4277A>T (p.Asn1426Ile)
n.5453A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642008T>ACA371872505VPS13Bc.5493T>A (p.Asn1831Lys)
n.5563T>A
c.*1175T>A (n.*1175T>A)
c.5418T>A (p.Asn1806Lys)
c.5490T>A (p.Asn1830Lys)
c.5415T>A (p.Asn1805Lys)
c.5115T>A (p.Asn1705Lys)
c.2379T>A (p.Asn793Lys)
c.1272T>A (p.Asn424Lys)
c.5298T>A (p.Asn1766Lys)
c.1050T>A (p.Asn350Lys)
c.4278T>A (p.Asn1426Lys)
n.5454T>A
8g.99642008T>CCA462464389VPS13Bc.5493T>C (p.Asn1831=)
n.5563T>C
c.*1175T>C (n.*1175T>C)
c.5418T>C (p.Asn1806=)
c.5490T>C (p.Asn1830=)
c.5415T>C (p.Asn1805=)
c.5115T>C (p.Asn1705=)
c.2379T>C (p.Asn793=)
c.1272T>C (p.Asn424=)
c.5298T>C (p.Asn1766=)
c.1050T>C (p.Asn350=)
c.4278T>C (p.Asn1426=)
n.5454T>C
 ClinVar dbSNP
8g.99642008T>GCA371872506VPS13Bc.5493T>G (p.Asn1831Lys)
n.5563T>G
c.*1175T>G (n.*1175T>G)
c.5418T>G (p.Asn1806Lys)
c.5490T>G (p.Asn1830Lys)
c.5415T>G (p.Asn1805Lys)
c.5115T>G (p.Asn1705Lys)
c.2379T>G (p.Asn793Lys)
c.1272T>G (p.Asn424Lys)
c.5298T>G (p.Asn1766Lys)
c.1050T>G (p.Asn350Lys)
c.4278T>G (p.Asn1426Lys)
n.5454T>G
8g.99642009C>ACA371872507VPS13Bc.5494C>A (p.Leu1832Ile)
n.5564C>A
c.*1176C>A (n.*1176C>A)
c.5419C>A (p.Leu1807Ile)
c.5491C>A (p.Leu1831Ile)
c.5416C>A (p.Leu1806Ile)
c.5116C>A (p.Leu1706Ile)
c.2380C>A (p.Leu794Ile)
c.1273C>A (p.Leu425Ile)
c.5299C>A (p.Leu1767Ile)
c.1051C>A (p.Leu351Ile)
c.4279C>A (p.Leu1427Ile)
n.5455C>A
8g.99642009C>GCA371872508VPS13Bc.5494C>G (p.Leu1832Val)
n.5564C>G
c.*1176C>G (n.*1176C>G)
c.5419C>G (p.Leu1807Val)
c.5491C>G (p.Leu1831Val)
c.5416C>G (p.Leu1806Val)
c.5116C>G (p.Leu1706Val)
c.2380C>G (p.Leu794Val)
c.1273C>G (p.Leu425Val)
c.5299C>G (p.Leu1767Val)
c.1051C>G (p.Leu351Val)
c.4279C>G (p.Leu1427Val)
n.5455C>G
 gnomAD v4
8g.99642009C>TCA462464393VPS13Bc.5494C>T (p.Leu1832=)
n.5564C>T
c.*1176C>T (n.*1176C>T)
c.5419C>T (p.Leu1807=)
c.5491C>T (p.Leu1831=)
c.5416C>T (p.Leu1806=)
c.5116C>T (p.Leu1706=)
c.2380C>T (p.Leu794=)
c.1273C>T (p.Leu425=)
c.5299C>T (p.Leu1767=)
c.1051C>T (p.Leu351=)
c.4279C>T (p.Leu1427=)
n.5455C>T
8g.99642010T>ACA371872509VPS13Bc.5495T>A (p.Leu1832Gln)
n.5565T>A
c.*1177T>A (n.*1177T>A)
c.5420T>A (p.Leu1807Gln)
c.5492T>A (p.Leu1831Gln)
c.5417T>A (p.Leu1806Gln)
c.5117T>A (p.Leu1706Gln)
c.2381T>A (p.Leu794Gln)
c.1274T>A (p.Leu425Gln)
c.5300T>A (p.Leu1767Gln)
c.1052T>A (p.Leu351Gln)
c.4280T>A (p.Leu1427Gln)
n.5456T>A
8g.99642010T>CCA371872511VPS13Bc.5495T>C (p.Leu1832Pro)
n.5565T>C
c.*1177T>C (n.*1177T>C)
c.5420T>C (p.Leu1807Pro)
c.5492T>C (p.Leu1831Pro)
c.5417T>C (p.Leu1806Pro)
c.5117T>C (p.Leu1706Pro)
c.2381T>C (p.Leu794Pro)
c.1274T>C (p.Leu425Pro)
c.5300T>C (p.Leu1767Pro)
c.1052T>C (p.Leu351Pro)
c.4280T>C (p.Leu1427Pro)
n.5456T>C
8g.99642010T>GCA371872510VPS13Bc.5495T>G (p.Leu1832Arg)
n.5565T>G
c.*1177T>G (n.*1177T>G)
c.5420T>G (p.Leu1807Arg)
c.5492T>G (p.Leu1831Arg)
c.5417T>G (p.Leu1806Arg)
c.5117T>G (p.Leu1706Arg)
c.2381T>G (p.Leu794Arg)
c.1274T>G (p.Leu425Arg)
c.5300T>G (p.Leu1767Arg)
c.1052T>G (p.Leu351Arg)
c.4280T>G (p.Leu1427Arg)
n.5456T>G
8g.99642011A>CCA462464396VPS13Bc.5496A>C (p.Leu1832=)
n.5566A>C
c.*1178A>C (n.*1178A>C)
c.5421A>C (p.Leu1807=)
c.5493A>C (p.Leu1831=)
c.5418A>C (p.Leu1806=)
c.5118A>C (p.Leu1706=)
c.2382A>C (p.Leu794=)
c.1275A>C (p.Leu425=)
c.5301A>C (p.Leu1767=)
c.1053A>C (p.Leu351=)
c.4281A>C (p.Leu1427=)
n.5457A>C
8g.99642011A>GCA462464395VPS13Bc.5496A>G (p.Leu1832=)
n.5566A>G
c.*1178A>G (n.*1178A>G)
c.5421A>G (p.Leu1807=)
c.5493A>G (p.Leu1831=)
c.5418A>G (p.Leu1806=)
c.5118A>G (p.Leu1706=)
c.2382A>G (p.Leu794=)
c.1275A>G (p.Leu425=)
c.5301A>G (p.Leu1767=)
c.1053A>G (p.Leu351=)
c.4281A>G (p.Leu1427=)
n.5457A>G
8g.99642011A>TCA462464397VPS13Bc.5496A>T (p.Leu1832=)
n.5566A>T
c.*1178A>T (n.*1178A>T)
c.5421A>T (p.Leu1807=)
c.5493A>T (p.Leu1831=)
c.5418A>T (p.Leu1806=)
c.5118A>T (p.Leu1706=)
c.2382A>T (p.Leu794=)
c.1275A>T (p.Leu425=)
c.5301A>T (p.Leu1767=)
c.1053A>T (p.Leu351=)
c.4281A>T (p.Leu1427=)
n.5457A>T
8g.99642012A=CA1805820980VPS13Bc.5497A= (p.Asn1833=)
n.5567A=
c.*1179A= (n.*1179A=)
c.5422A= (p.Asn1808=)
c.5494A= (p.Asn1832=)
c.5419A= (p.Asn1807=)
c.5119A= (p.Asn1707=)
c.2383A= (p.Asn795=)
c.1276A= (p.Asn426=)
c.5302A= (p.Asn1768=)
c.1054A= (p.Asn352=)
c.4282A= (p.Asn1428=)
n.5458A=
8g.99642012A>CCA183013549VPS13Bc.5497A>C (p.Asn1833His)
n.5567A>C
c.*1179A>C (n.*1179A>C)
c.5422A>C (p.Asn1808His)
c.5494A>C (p.Asn1832His)
c.5419A>C (p.Asn1807His)
c.5119A>C (p.Asn1707His)
c.2383A>C (p.Asn795His)
c.1276A>C (p.Asn426His)
c.5302A>C (p.Asn1768His)
c.1054A>C (p.Asn352His)
c.4282A>C (p.Asn1428His)
n.5458A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99642012A>GCA371872512VPS13Bc.5497A>G (p.Asn1833Asp)
n.5567A>G
c.*1179A>G (n.*1179A>G)
c.5422A>G (p.Asn1808Asp)
c.5494A>G (p.Asn1832Asp)
c.5419A>G (p.Asn1807Asp)
c.5119A>G (p.Asn1707Asp)
c.2383A>G (p.Asn795Asp)
c.1276A>G (p.Asn426Asp)
c.5302A>G (p.Asn1768Asp)
c.1054A>G (p.Asn352Asp)
c.4282A>G (p.Asn1428Asp)
n.5458A>G
8g.99642012A>TCA371872513VPS13Bc.5497A>T (p.Asn1833Tyr)
n.5567A>T
c.*1179A>T (n.*1179A>T)
c.5422A>T (p.Asn1808Tyr)
c.5494A>T (p.Asn1832Tyr)
c.5419A>T (p.Asn1807Tyr)
c.5119A>T (p.Asn1707Tyr)
c.2383A>T (p.Asn795Tyr)
c.1276A>T (p.Asn426Tyr)
c.5302A>T (p.Asn1768Tyr)
c.1054A>T (p.Asn352Tyr)
c.4282A>T (p.Asn1428Tyr)
n.5458A>T
8g.99642013A>CCA371872514VPS13Bc.5498A>C (p.Asn1833Thr)
n.5568A>C
c.*1180A>C (n.*1180A>C)
c.5423A>C (p.Asn1808Thr)
c.5495A>C (p.Asn1832Thr)
c.5420A>C (p.Asn1807Thr)
c.5120A>C (p.Asn1707Thr)
c.2384A>C (p.Asn795Thr)
c.1277A>C (p.Asn426Thr)
c.5303A>C (p.Asn1768Thr)
c.1055A>C (p.Asn352Thr)
c.4283A>C (p.Asn1428Thr)
n.5459A>C
 gnomAD v4
8g.99642013A>GCA371872515VPS13Bc.5498A>G (p.Asn1833Ser)
n.5568A>G
c.*1180A>G (n.*1180A>G)
c.5423A>G (p.Asn1808Ser)
c.5495A>G (p.Asn1832Ser)
c.5420A>G (p.Asn1807Ser)
c.5120A>G (p.Asn1707Ser)
c.2384A>G (p.Asn795Ser)
c.1277A>G (p.Asn426Ser)
c.5303A>G (p.Asn1768Ser)
c.1055A>G (p.Asn352Ser)
c.4283A>G (p.Asn1428Ser)
n.5459A>G
8g.99642013A>TCA371872516VPS13Bc.5498A>T (p.Asn1833Ile)
n.5568A>T
c.*1180A>T (n.*1180A>T)
c.5423A>T (p.Asn1808Ile)
c.5495A>T (p.Asn1832Ile)
c.5420A>T (p.Asn1807Ile)
c.5120A>T (p.Asn1707Ile)
c.2384A>T (p.Asn795Ile)
c.1277A>T (p.Asn426Ile)
c.5303A>T (p.Asn1768Ile)
c.1055A>T (p.Asn352Ile)
c.4283A>T (p.Asn1428Ile)
n.5459A>T
8g.99642014T>ACA371872517VPS13Bc.5499T>A (p.Asn1833Lys)
n.5569T>A
c.*1181T>A (n.*1181T>A)
c.5424T>A (p.Asn1808Lys)
c.5496T>A (p.Asn1832Lys)
c.5421T>A (p.Asn1807Lys)
c.5121T>A (p.Asn1707Lys)
c.2385T>A (p.Asn795Lys)
c.1278T>A (p.Asn426Lys)
c.5304T>A (p.Asn1768Lys)
c.1056T>A (p.Asn352Lys)
c.4284T>A (p.Asn1428Lys)
n.5460T>A
8g.99642014T>CCA462464399VPS13Bc.5499T>C (p.Asn1833=)
n.5569T>C
c.*1181T>C (n.*1181T>C)
c.5424T>C (p.Asn1808=)
c.5496T>C (p.Asn1832=)
c.5421T>C (p.Asn1807=)
c.5121T>C (p.Asn1707=)
c.2385T>C (p.Asn795=)
c.1278T>C (p.Asn426=)
c.5304T>C (p.Asn1768=)
c.1056T>C (p.Asn352=)
c.4284T>C (p.Asn1428=)
n.5460T>C
8g.99642014T>GCA371872518VPS13Bc.5499T>G (p.Asn1833Lys)
n.5569T>G
c.*1181T>G (n.*1181T>G)
c.5424T>G (p.Asn1808Lys)
c.5496T>G (p.Asn1832Lys)
c.5421T>G (p.Asn1807Lys)
c.5121T>G (p.Asn1707Lys)
c.2385T>G (p.Asn795Lys)
c.1278T>G (p.Asn426Lys)
c.5304T>G (p.Asn1768Lys)
c.1056T>G (p.Asn352Lys)
c.4284T>G (p.Asn1428Lys)
n.5460T>G
8g.99642015T>ACA371872519VPS13Bc.5500T>A (p.Phe1834Ile)
n.5570T>A
c.*1182T>A (n.*1182T>A)
c.5425T>A (p.Phe1809Ile)
c.5497T>A (p.Phe1833Ile)
c.5422T>A (p.Phe1808Ile)
c.5122T>A (p.Phe1708Ile)
c.2386T>A (p.Phe796Ile)
c.1279T>A (p.Phe427Ile)
c.5305T>A (p.Phe1769Ile)
c.1057T>A (p.Phe353Ile)
c.4285T>A (p.Phe1429Ile)
n.5461T>A
8g.99642015T>CCA371872520VPS13Bc.5500T>C (p.Phe1834Leu)
n.5570T>C
c.*1182T>C (n.*1182T>C)
c.5425T>C (p.Phe1809Leu)
c.5497T>C (p.Phe1833Leu)
c.5422T>C (p.Phe1808Leu)
c.5122T>C (p.Phe1708Leu)
c.2386T>C (p.Phe796Leu)
c.1279T>C (p.Phe427Leu)
c.5305T>C (p.Phe1769Leu)
c.1057T>C (p.Phe353Leu)
c.4285T>C (p.Phe1429Leu)
n.5461T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99642015T>GCA371872521VPS13Bc.5500T>G (p.Phe1834Val)
n.5570T>G
c.*1182T>G (n.*1182T>G)
c.5425T>G (p.Phe1809Val)
c.5497T>G (p.Phe1833Val)
c.5422T>G (p.Phe1808Val)
c.5122T>G (p.Phe1708Val)
c.2386T>G (p.Phe796Val)
c.1279T>G (p.Phe427Val)
c.5305T>G (p.Phe1769Val)
c.1057T>G (p.Phe353Val)
c.4285T>G (p.Phe1429Val)
n.5461T>G
8g.99642015T=CA1805820983VPS13Bc.5500T= (p.Phe1834=)
n.5570T=
c.*1182T= (n.*1182T=)
c.5425T= (p.Phe1809=)
c.5497T= (p.Phe1833=)
c.5422T= (p.Phe1808=)
c.5122T= (p.Phe1708=)
c.2386T= (p.Phe796=)
c.1279T= (p.Phe427=)
c.5305T= (p.Phe1769=)
c.1057T= (p.Phe353=)
c.4285T= (p.Phe1429=)
n.5461T=
8g.99642016T>ACA371872522VPS13Bc.5501T>A (p.Phe1834Tyr)
n.5571T>A
c.*1183T>A (n.*1183T>A)
c.5426T>A (p.Phe1809Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5423T>A (p.Phe1808Tyr)
c.5123T>A (p.Phe1708Tyr)
c.2387T>A (p.Phe796Tyr)
c.1280T>A (p.Phe427Tyr)
c.5306T>A (p.Phe1769Tyr)
c.1058T>A (p.Phe353Tyr)
c.4286T>A (p.Phe1429Tyr)
n.5462T>A
8g.99642016T>CCA371872524VPS13Bc.5501T>C (p.Phe1834Ser)
n.5571T>C
c.*1183T>C (n.*1183T>C)
c.5426T>C (p.Phe1809Ser)
c.5498T>C (p.Phe1833Ser)
c.5423T>C (p.Phe1808Ser)
c.5123T>C (p.Phe1708Ser)
c.2387T>C (p.Phe796Ser)
c.1280T>C (p.Phe427Ser)
c.5306T>C (p.Phe1769Ser)
c.1058T>C (p.Phe353Ser)
c.4286T>C (p.Phe1429Ser)
n.5462T>C
8g.99642016T>GCA371872523VPS13Bc.5501T>G (p.Phe1834Cys)
n.5571T>G
c.*1183T>G (n.*1183T>G)
c.5426T>G (p.Phe1809Cys)
c.5498T>G (p.Phe1833Cys)
c.5423T>G (p.Phe1808Cys)
c.5123T>G (p.Phe1708Cys)
c.2387T>G (p.Phe796Cys)
c.1280T>G (p.Phe427Cys)
c.5306T>G (p.Phe1769Cys)
c.1058T>G (p.Phe353Cys)
c.4286T>G (p.Phe1429Cys)
n.5462T>G
 dbSNP gnomAD v3 gnomAD v4
8g.99642016T=CA1805820991VPS13Bc.5501T= (p.Phe1834=)
n.5571T=
c.*1183T= (n.*1183T=)
c.5426T= (p.Phe1809=)
c.5498T= (p.Phe1833=)
c.5423T= (p.Phe1808=)
c.5123T= (p.Phe1708=)
c.2387T= (p.Phe796=)
c.1280T= (p.Phe427=)
c.5306T= (p.Phe1769=)
c.1058T= (p.Phe353=)
c.4286T= (p.Phe1429=)
n.5462T=
8g.99642017T>ACA371872525VPS13Bc.5502T>A (p.Phe1834Leu)
n.5572T>A
c.*1184T>A (n.*1184T>A)
c.5427T>A (p.Phe1809Leu)
c.5499T>A (p.Phe1833Leu)
c.5424T>A (p.Phe1808Leu)
c.5124T>A (p.Phe1708Leu)
c.2388T>A (p.Phe796Leu)
c.1281T>A (p.Phe427Leu)
c.5307T>A (p.Phe1769Leu)
c.1059T>A (p.Phe353Leu)
c.4287T>A (p.Phe1429Leu)
n.5463T>A
 gnomAD v4
8g.99642017T>CCA462464400VPS13Bc.5502T>C (p.Phe1834=)
n.5572T>C
c.*1184T>C (n.*1184T>C)
c.5427T>C (p.Phe1809=)
c.5499T>C (p.Phe1833=)
c.5424T>C (p.Phe1808=)
c.5124T>C (p.Phe1708=)
c.2388T>C (p.Phe796=)
c.1281T>C (p.Phe427=)
c.5307T>C (p.Phe1769=)
c.1059T>C (p.Phe353=)
c.4287T>C (p.Phe1429=)
n.5463T>C
8g.99642017T>GCA371872526VPS13Bc.5502T>G (p.Phe1834Leu)
n.5572T>G
c.*1184T>G (n.*1184T>G)
c.5427T>G (p.Phe1809Leu)
c.5499T>G (p.Phe1833Leu)
c.5424T>G (p.Phe1808Leu)
c.5124T>G (p.Phe1708Leu)
c.2388T>G (p.Phe796Leu)
c.1281T>G (p.Phe427Leu)
c.5307T>G (p.Phe1769Leu)
c.1059T>G (p.Phe353Leu)
c.4287T>G (p.Phe1429Leu)
n.5463T>G
8g.99642018A=CA1805820995VPS13Bc.5503A= (p.Ile1835=)
n.5573A=
c.*1185A= (n.*1185A=)
c.5428A= (p.Ile1810=)
c.5500A= (p.Ile1834=)
c.5425A= (p.Ile1809=)
c.5125A= (p.Ile1709=)
c.2389A= (p.Ile797=)
c.1282A= (p.Ile428=)
c.5308A= (p.Ile1770=)
c.1060A= (p.Ile354=)
c.4288A= (p.Ile1430=)
n.5464A=
8g.99642018A>CCA371872527VPS13Bc.5503A>C (p.Ile1835Leu)
n.5573A>C
c.*1185A>C (n.*1185A>C)
c.5428A>C (p.Ile1810Leu)
c.5500A>C (p.Ile1834Leu)
c.5425A>C (p.Ile1809Leu)
c.5125A>C (p.Ile1709Leu)
c.2389A>C (p.Ile797Leu)
c.1282A>C (p.Ile428Leu)
c.5308A>C (p.Ile1770Leu)
c.1060A>C (p.Ile354Leu)
c.4288A>C (p.Ile1430Leu)
n.5464A>C
8g.99642018A>GCA371872528VPS13Bc.5503A>G (p.Ile1835Val)
n.5573A>G
c.*1185A>G (n.*1185A>G)
c.5428A>G (p.Ile1810Val)
c.5500A>G (p.Ile1834Val)
c.5425A>G (p.Ile1809Val)
c.5125A>G (p.Ile1709Val)
c.2389A>G (p.Ile797Val)
c.1282A>G (p.Ile428Val)
c.5308A>G (p.Ile1770Val)
c.1060A>G (p.Ile354Val)
c.4288A>G (p.Ile1430Val)
n.5464A>G
 dbSNP gnomAD v2
8g.99642018A>TCA371872529VPS13Bc.5503A>T (p.Ile1835Phe)
n.5573A>T
c.*1185A>T (n.*1185A>T)
c.5428A>T (p.Ile1810Phe)
c.5500A>T (p.Ile1834Phe)
c.5425A>T (p.Ile1809Phe)
c.5125A>T (p.Ile1709Phe)
c.2389A>T (p.Ile797Phe)
c.1282A>T (p.Ile428Phe)
c.5308A>T (p.Ile1770Phe)
c.1060A>T (p.Ile354Phe)
c.4288A>T (p.Ile1430Phe)
n.5464A>T
8g.99642019T>ACA371872530VPS13Bc.5504T>A (p.Ile1835Asn)
n.5574T>A
c.*1186T>A (n.*1186T>A)
c.5429T>A (p.Ile1810Asn)
c.5501T>A (p.Ile1834Asn)
c.5426T>A (p.Ile1809Asn)
c.5126T>A (p.Ile1709Asn)
c.2390T>A (p.Ile797Asn)
c.1283T>A (p.Ile428Asn)
c.5309T>A (p.Ile1770Asn)
c.1061T>A (p.Ile354Asn)
c.4289T>A (p.Ile1430Asn)
n.5465T>A
8g.99642019T>CCA371872531VPS13Bc.5504T>C (p.Ile1835Thr)
n.5574T>C
c.*1186T>C (n.*1186T>C)
c.5429T>C (p.Ile1810Thr)
c.5501T>C (p.Ile1834Thr)
c.5426T>C (p.Ile1809Thr)
c.5126T>C (p.Ile1709Thr)
c.2390T>C (p.Ile797Thr)
c.1283T>C (p.Ile428Thr)
c.5309T>C (p.Ile1770Thr)
c.1061T>C (p.Ile354Thr)
c.4289T>C (p.Ile1430Thr)
n.5465T>C
8g.99642019T>GCA371872532VPS13Bc.5504T>G (p.Ile1835Ser)
n.5574T>G
c.*1186T>G (n.*1186T>G)
c.5429T>G (p.Ile1810Ser)
c.5501T>G (p.Ile1834Ser)
c.5426T>G (p.Ile1809Ser)
c.5126T>G (p.Ile1709Ser)
c.2390T>G (p.Ile797Ser)
c.1283T>G (p.Ile428Ser)
c.5309T>G (p.Ile1770Ser)
c.1061T>G (p.Ile354Ser)
c.4289T>G (p.Ile1430Ser)
n.5465T>G
8g.99642020T>ACA462464402VPS13Bc.5505T>A (p.Ile1835=)
n.5575T>A
c.*1187T>A (n.*1187T>A)
c.5430T>A (p.Ile1810=)
c.5502T>A (p.Ile1834=)
c.5427T>A (p.Ile1809=)
c.5127T>A (p.Ile1709=)
c.2391T>A (p.Ile797=)
c.1284T>A (p.Ile428=)
c.5310T>A (p.Ile1770=)
c.1062T>A (p.Ile354=)
c.4290T>A (p.Ile1430=)
n.5466T>A
 ClinVar
8g.99642020T>CCA462464403VPS13Bc.5505T>C (p.Ile1835=)
n.5575T>C
c.*1187T>C (n.*1187T>C)
c.5430T>C (p.Ile1810=)
c.5502T>C (p.Ile1834=)
c.5427T>C (p.Ile1809=)
c.5127T>C (p.Ile1709=)
c.2391T>C (p.Ile797=)
c.1284T>C (p.Ile428=)
c.5310T>C (p.Ile1770=)
c.1062T>C (p.Ile354=)
c.4290T>C (p.Ile1430=)
n.5466T>C
8g.99642020T>GCA371872533VPS13Bc.5505T>G (p.Ile1835Met)
n.5575T>G
c.*1187T>G (n.*1187T>G)
c.5430T>G (p.Ile1810Met)
c.5502T>G (p.Ile1834Met)
c.5427T>G (p.Ile1809Met)
c.5127T>G (p.Ile1709Met)
c.2391T>G (p.Ile797Met)
c.1284T>G (p.Ile428Met)
c.5310T>G (p.Ile1770Met)
c.1062T>G (p.Ile354Met)
c.4290T>G (p.Ile1430Met)
n.5466T>G
8g.99642021C>ACA371872534VPS13Bc.5506C>A (p.Pro1836Thr)
n.5576C>A
c.*1188C>A (n.*1188C>A)
c.5431C>A (p.Pro1811Thr)
c.5503C>A (p.Pro1835Thr)
c.5428C>A (p.Pro1810Thr)
c.5128C>A (p.Pro1710Thr)
c.2392C>A (p.Pro798Thr)
c.1285C>A (p.Pro429Thr)
c.5311C>A (p.Pro1771Thr)
c.1063C>A (p.Pro355Thr)
c.4291C>A (p.Pro1431Thr)
n.5467C>A
8g.99642021C>GCA371872535VPS13Bc.5506C>G (p.Pro1836Ala)
n.5576C>G
c.*1188C>G (n.*1188C>G)
c.5431C>G (p.Pro1811Ala)
c.5503C>G (p.Pro1835Ala)
c.5428C>G (p.Pro1810Ala)
c.5128C>G (p.Pro1710Ala)
c.2392C>G (p.Pro798Ala)
c.1285C>G (p.Pro429Ala)
c.5311C>G (p.Pro1771Ala)
c.1063C>G (p.Pro355Ala)
c.4291C>G (p.Pro1431Ala)
n.5467C>G
8g.99642021C>TCA371872536VPS13Bc.5506C>T (p.Pro1836Ser)
n.5576C>T
c.*1188C>T (n.*1188C>T)
c.5431C>T (p.Pro1811Ser)
c.5503C>T (p.Pro1835Ser)
c.5428C>T (p.Pro1810Ser)
c.5128C>T (p.Pro1710Ser)
c.2392C>T (p.Pro798Ser)
c.1285C>T (p.Pro429Ser)
c.5311C>T (p.Pro1771Ser)
c.1063C>T (p.Pro355Ser)
c.4291C>T (p.Pro1431Ser)
n.5467C>T
8g.99642023delCA2580079160VPS13Bc.5508del (p.Phe1837LeufsTer12)
n.5578del
c.*1190del (n.*1190del)
c.5433del (p.Phe1812LeufsTer12)
c.5505del (p.Phe1836LeufsTer12)
c.5430del (p.Phe1811LeufsTer12)
c.5130del (p.Phe1711LeufsTer12)
c.2394del (p.Phe799LeufsTer12)
c.1287del (p.Phe430LeufsTer12)
c.5313del (p.Phe1772LeufsTer12)
c.1065del (p.Phe356LeufsTer12)
c.4293del (p.Phe1432LeufsTer12)
n.5469del
 ClinVar
8g.99642022C>ACA371872538VPS13Bc.5507C>A (p.Pro1836His)
n.5577C>A
c.*1189C>A (n.*1189C>A)
c.5432C>A (p.Pro1811His)
c.5504C>A (p.Pro1835His)
c.5429C>A (p.Pro1810His)
c.5129C>A (p.Pro1710His)
c.2393C>A (p.Pro798His)
c.1286C>A (p.Pro429His)
c.5312C>A (p.Pro1771His)
c.1064C>A (p.Pro355His)
c.4292C>A (p.Pro1431His)
n.5468C>A
8g.99642022C=CA1805820998VPS13Bc.5507C= (p.Pro1836=)
n.5577C=
c.*1189C= (n.*1189C=)
c.5432C= (p.Pro1811=)
c.5504C= (p.Pro1835=)
c.5429C= (p.Pro1810=)
c.5129C= (p.Pro1710=)
c.2393C= (p.Pro798=)
c.1286C= (p.Pro429=)
c.5312C= (p.Pro1771=)
c.1064C= (p.Pro355=)
c.4292C= (p.Pro1431=)
n.5468C=
8g.99642022C>GCA371872537VPS13Bc.5507C>G (p.Pro1836Arg)
n.5577C>G
c.*1189C>G (n.*1189C>G)
c.5432C>G (p.Pro1811Arg)
c.5504C>G (p.Pro1835Arg)
c.5429C>G (p.Pro1810Arg)
c.5129C>G (p.Pro1710Arg)
c.2393C>G (p.Pro798Arg)
c.1286C>G (p.Pro429Arg)
c.5312C>G (p.Pro1771Arg)
c.1064C>G (p.Pro355Arg)
c.4292C>G (p.Pro1431Arg)
n.5468C>G
 gnomAD v4
8g.99642022C>TCA183013551VPS13Bc.5507C>T (p.Pro1836Leu)
n.5577C>T
c.*1189C>T (n.*1189C>T)
c.5432C>T (p.Pro1811Leu)
c.5504C>T (p.Pro1835Leu)
c.5429C>T (p.Pro1810Leu)
c.5129C>T (p.Pro1710Leu)
c.2393C>T (p.Pro798Leu)
c.1286C>T (p.Pro429Leu)
c.5312C>T (p.Pro1771Leu)
c.1064C>T (p.Pro355Leu)
c.4292C>T (p.Pro1431Leu)
n.5468C>T
 dbSNP
8g.99642023C>ACA462464407VPS13Bc.5508C>A (p.Pro1836=)
n.5578C>A
c.*1190C>A (n.*1190C>A)
c.5433C>A (p.Pro1811=)
c.5505C>A (p.Pro1835=)
c.5430C>A (p.Pro1810=)
c.5130C>A (p.Pro1710=)
c.2394C>A (p.Pro798=)
c.1287C>A (p.Pro429=)
c.5313C>A (p.Pro1771=)
c.1065C>A (p.Pro355=)
c.4293C>A (p.Pro1431=)
n.5469C>A
8g.99642023C>GCA462464408VPS13Bc.5508C>G (p.Pro1836=)
n.5578C>G
c.*1190C>G (n.*1190C>G)
c.5433C>G (p.Pro1811=)
c.5505C>G (p.Pro1835=)
c.5430C>G (p.Pro1810=)
c.5130C>G (p.Pro1710=)
c.2394C>G (p.Pro798=)
c.1287C>G (p.Pro429=)
c.5313C>G (p.Pro1771=)
c.1065C>G (p.Pro355=)
c.4293C>G (p.Pro1431=)
n.5469C>G
8g.99642023C>TCA462464409VPS13Bc.5508C>T (p.Pro1836=)
n.5578C>T
c.*1190C>T (n.*1190C>T)
c.5433C>T (p.Pro1811=)
c.5505C>T (p.Pro1835=)
c.5430C>T (p.Pro1810=)
c.5130C>T (p.Pro1710=)
c.2394C>T (p.Pro798=)
c.1287C>T (p.Pro429=)
c.5313C>T (p.Pro1771=)
c.1065C>T (p.Pro355=)
c.4293C>T (p.Pro1431=)
n.5469C>T
 ClinVar dbSNP gnomAD v4
8g.99642024T>ACA371872539VPS13Bc.5509T>A (p.Phe1837Ile)
n.5579T>A
c.*1191T>A (n.*1191T>A)
c.5434T>A (p.Phe1812Ile)
c.5506T>A (p.Phe1836Ile)
c.5431T>A (p.Phe1811Ile)
c.5131T>A (p.Phe1711Ile)
c.2395T>A (p.Phe799Ile)
c.1288T>A (p.Phe430Ile)
c.5314T>A (p.Phe1772Ile)
c.1066T>A (p.Phe356Ile)
c.4294T>A (p.Phe1432Ile)
n.5470T>A
8g.99642024T>CCA371872540VPS13Bc.5509T>C (p.Phe1837Leu)
n.5579T>C
c.*1191T>C (n.*1191T>C)
c.5434T>C (p.Phe1812Leu)
c.5506T>C (p.Phe1836Leu)
c.5431T>C (p.Phe1811Leu)
c.5131T>C (p.Phe1711Leu)
c.2395T>C (p.Phe799Leu)
c.1288T>C (p.Phe430Leu)
c.5314T>C (p.Phe1772Leu)
c.1066T>C (p.Phe356Leu)
c.4294T>C (p.Phe1432Leu)
n.5470T>C
 gnomAD v4
8g.99642024T>GCA371872541VPS13Bc.5509T>G (p.Phe1837Val)
n.5579T>G
c.*1191T>G (n.*1191T>G)
c.5434T>G (p.Phe1812Val)
c.5506T>G (p.Phe1836Val)
c.5431T>G (p.Phe1811Val)
c.5131T>G (p.Phe1711Val)
c.2395T>G (p.Phe799Val)
c.1288T>G (p.Phe430Val)
c.5314T>G (p.Phe1772Val)
c.1066T>G (p.Phe356Val)
c.4294T>G (p.Phe1432Val)
n.5470T>G
 gnomAD v4
8g.99642025T>ACA371872542VPS13Bc.5510T>A (p.Phe1837Tyr)
n.5580T>A
c.*1192T>A (n.*1192T>A)
c.5435T>A (p.Phe1812Tyr)
c.5507T>A (p.Phe1836Tyr)
c.5432T>A (p.Phe1811Tyr)
c.5132T>A (p.Phe1711Tyr)
c.2396T>A (p.Phe799Tyr)
c.1289T>A (p.Phe430Tyr)
c.5315T>A (p.Phe1772Tyr)
c.1067T>A (p.Phe356Tyr)
c.4295T>A (p.Phe1432Tyr)
n.5471T>A
8g.99642025T>CCA371872543VPS13Bc.5510T>C (p.Phe1837Ser)
n.5580T>C
c.*1192T>C (n.*1192T>C)
c.5435T>C (p.Phe1812Ser)
c.5507T>C (p.Phe1836Ser)
c.5432T>C (p.Phe1811Ser)
c.5132T>C (p.Phe1711Ser)
c.2396T>C (p.Phe799Ser)
c.1289T>C (p.Phe430Ser)
c.5315T>C (p.Phe1772Ser)
c.1067T>C (p.Phe356Ser)
c.4295T>C (p.Phe1432Ser)
n.5471T>C
8g.99642025T>GCA371872544VPS13Bc.5510T>G (p.Phe1837Cys)
n.5580T>G
c.*1192T>G (n.*1192T>G)
c.5435T>G (p.Phe1812Cys)
c.5507T>G (p.Phe1836Cys)
c.5432T>G (p.Phe1811Cys)
c.5132T>G (p.Phe1711Cys)
c.2396T>G (p.Phe799Cys)
c.1289T>G (p.Phe430Cys)
c.5315T>G (p.Phe1772Cys)
c.1067T>G (p.Phe356Cys)
c.4295T>G (p.Phe1432Cys)
n.5471T>G
8g.99642025_99642040delinsTTGACATATTTATTACCA1805821003VPS13Bc.5510_5525delinsTTGACATATTTATTAC (p.Phe1837=)
n.5580_5595delinsTTGACATATTTATTAC
c.*1192_*1207delinsTTGACATATTTATTAC (n.*1192_*1207delinsTTGACATATTTATTAC)
c.5435_5450delinsTTGACATATTTATTAC (p.Phe1812=)
c.5507_5522delinsTTGACATATTTATTAC (p.Phe1836=)
c.5432_5447delinsTTGACATATTTATTAC (p.Phe1811=)
c.5132_5147delinsTTGACATATTTATTAC (p.Phe1711=)
c.2396_2411delinsTTGACATATTTATTAC (p.Phe799=)
c.1289_1304delinsTTGACATATTTATTAC (p.Phe430=)
c.5315_5330delinsTTGACATATTTATTAC (p.Phe1772=)
c.1067_1082delinsTTGACATATTTATTAC (p.Phe356=)
c.4295_4310delinsTTGACATATTTATTAC (p.Phe1432=)
n.5471_5486delinsTTGACATATTTATTAC
8g.99642026T>ACA371872545VPS13Bc.5511T>A (p.Phe1837Leu)
n.5581T>A
c.*1193T>A (n.*1193T>A)
c.5436T>A (p.Phe1812Leu)
c.5508T>A (p.Phe1836Leu)
c.5433T>A (p.Phe1811Leu)
c.5133T>A (p.Phe1711Leu)
c.2397T>A (p.Phe799Leu)
c.1290T>A (p.Phe430Leu)
c.5316T>A (p.Phe1772Leu)
c.1068T>A (p.Phe356Leu)
c.4296T>A (p.Phe1432Leu)
n.5472T>A
8g.99642026T>CCA462464412VPS13Bc.5511T>C (p.Phe1837=)
n.5581T>C
c.*1193T>C (n.*1193T>C)
c.5436T>C (p.Phe1812=)
c.5508T>C (p.Phe1836=)
c.5433T>C (p.Phe1811=)
c.5133T>C (p.Phe1711=)
c.2397T>C (p.Phe799=)
c.1290T>C (p.Phe430=)
c.5316T>C (p.Phe1772=)
c.1068T>C (p.Phe356=)
c.4296T>C (p.Phe1432=)
n.5472T>C
 gnomAD v4
8g.99642026T>GCA371872546VPS13Bc.5511T>G (p.Phe1837Leu)
n.5581T>G
c.*1193T>G (n.*1193T>G)
c.5436T>G (p.Phe1812Leu)
c.5508T>G (p.Phe1836Leu)
c.5433T>G (p.Phe1811Leu)
c.5133T>G (p.Phe1711Leu)
c.2397T>G (p.Phe799Leu)
c.1290T>G (p.Phe430Leu)
c.5316T>G (p.Phe1772Leu)
c.1068T>G (p.Phe356Leu)
c.4296T>G (p.Phe1432Leu)
n.5472T>G
 ClinVar dbSNP gnomAD v4
8g.99642028_99642042delCA16043829VPS13Bc.5513_5527del (p.Asp1838_Thr1842del)
n.5583_5597del
c.*1195_*1209del (n.*1195_*1209del)
c.5438_5452del (p.Asp1813_Thr1817del)
c.5510_5524del (p.Asp1837_Thr1841del)
c.5435_5449del (p.Asp1812_Thr1816del)
c.5135_5149del (p.Asp1712_Thr1716del)
c.2399_2413del (p.Asp800_Thr804del)
c.1292_1306del (p.Asp431_Thr435del)
c.5318_5332del (p.Asp1773_Thr1777del)
c.1070_1084del (p.Asp357_Thr361del)
c.4298_4312del (p.Asp1433_Thr1437del)
n.5474_5488del
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99642027G>ACA371872547VPS13Bc.5512G>A (p.Asp1838Asn)
n.5582G>A
c.*1194G>A (n.*1194G>A)
c.5437G>A (p.Asp1813Asn)
c.5509G>A (p.Asp1837Asn)
c.5434G>A (p.Asp1812Asn)
c.5134G>A (p.Asp1712Asn)
c.2398G>A (p.Asp800Asn)
c.1291G>A (p.Asp431Asn)
c.5317G>A (p.Asp1773Asn)
c.1069G>A (p.Asp357Asn)
c.4297G>A (p.Asp1433Asn)
n.5473G>A
8g.99642027G>CCA371872548VPS13Bc.5512G>C (p.Asp1838His)
n.5582G>C
c.*1194G>C (n.*1194G>C)
c.5437G>C (p.Asp1813His)
c.5509G>C (p.Asp1837His)
c.5434G>C (p.Asp1812His)
c.5134G>C (p.Asp1712His)
c.2398G>C (p.Asp800His)
c.1291G>C (p.Asp431His)
c.5317G>C (p.Asp1773His)
c.1069G>C (p.Asp357His)
c.4297G>C (p.Asp1433His)
n.5473G>C
8g.99642027G>TCA371872549VPS13Bc.5512G>T (p.Asp1838Tyr)
n.5582G>T
c.*1194G>T (n.*1194G>T)
c.5437G>T (p.Asp1813Tyr)
c.5509G>T (p.Asp1837Tyr)
c.5434G>T (p.Asp1812Tyr)
c.5134G>T (p.Asp1712Tyr)
c.2398G>T (p.Asp800Tyr)
c.1291G>T (p.Asp431Tyr)
c.5317G>T (p.Asp1773Tyr)
c.1069G>T (p.Asp357Tyr)
c.4297G>T (p.Asp1433Tyr)
n.5473G>T
 gnomAD v4
8g.99642028A>CCA371872551VPS13Bc.5513A>C (p.Asp1838Ala)
n.5583A>C
c.*1195A>C (n.*1195A>C)
c.5438A>C (p.Asp1813Ala)
c.5510A>C (p.Asp1837Ala)
c.5435A>C (p.Asp1812Ala)
c.5135A>C (p.Asp1712Ala)
c.2399A>C (p.Asp800Ala)
c.1292A>C (p.Asp431Ala)
c.5318A>C (p.Asp1773Ala)
c.1070A>C (p.Asp357Ala)
c.4298A>C (p.Asp1433Ala)
n.5474A>C
8g.99642028A>GCA371872552VPS13Bc.5513A>G (p.Asp1838Gly)
n.5583A>G
c.*1195A>G (n.*1195A>G)
c.5438A>G (p.Asp1813Gly)
c.5510A>G (p.Asp1837Gly)
c.5435A>G (p.Asp1812Gly)
c.5135A>G (p.Asp1712Gly)
c.2399A>G (p.Asp800Gly)
c.1292A>G (p.Asp431Gly)
c.5318A>G (p.Asp1773Gly)
c.1070A>G (p.Asp357Gly)
c.4298A>G (p.Asp1433Gly)
n.5474A>G
 COSMIC COSMIC
8g.99642028A>TCA371872550VPS13Bc.5513A>T (p.Asp1838Val)
n.5583A>T
c.*1195A>T (n.*1195A>T)
c.5438A>T (p.Asp1813Val)
c.5510A>T (p.Asp1837Val)
c.5435A>T (p.Asp1812Val)
c.5135A>T (p.Asp1712Val)
c.2399A>T (p.Asp800Val)
c.1292A>T (p.Asp431Val)
c.5318A>T (p.Asp1773Val)
c.1070A>T (p.Asp357Val)
c.4298A>T (p.Asp1433Val)
n.5474A>T
8g.99642029C>ACA371872553VPS13Bc.5514C>A (p.Asp1838Glu)
n.5584C>A
c.*1196C>A (n.*1196C>A)
c.5439C>A (p.Asp1813Glu)
c.5511C>A (p.Asp1837Glu)
c.5436C>A (p.Asp1812Glu)
c.5136C>A (p.Asp1712Glu)
c.2400C>A (p.Asp800Glu)
c.1293C>A (p.Asp431Glu)
c.5319C>A (p.Asp1773Glu)
c.1071C>A (p.Asp357Glu)
c.4299C>A (p.Asp1433Glu)
n.5475C>A
8g.99642029C=CA1805821019VPS13Bc.5514C= (p.Asp1838=)
n.5584C=
c.*1196C= (n.*1196C=)
c.5439C= (p.Asp1813=)
c.5511C= (p.Asp1837=)
c.5436C= (p.Asp1812=)
c.5136C= (p.Asp1712=)
c.2400C= (p.Asp800=)
c.1293C= (p.Asp431=)
c.5319C= (p.Asp1773=)
c.1071C= (p.Asp357=)
c.4299C= (p.Asp1433=)
n.5475C=
8g.99642029C>GCA371872554VPS13Bc.5514C>G (p.Asp1838Glu)
n.5584C>G
c.*1196C>G (n.*1196C>G)
c.5439C>G (p.Asp1813Glu)
c.5511C>G (p.Asp1837Glu)
c.5436C>G (p.Asp1812Glu)
c.5136C>G (p.Asp1712Glu)
c.2400C>G (p.Asp800Glu)
c.1293C>G (p.Asp431Glu)
c.5319C>G (p.Asp1773Glu)
c.1071C>G (p.Asp357Glu)
c.4299C>G (p.Asp1433Glu)
n.5475C>G
8g.99642029C>TCA462464414VPS13Bc.5514C>T (p.Asp1838=)
n.5584C>T
c.*1196C>T (n.*1196C>T)
c.5439C>T (p.Asp1813=)
c.5511C>T (p.Asp1837=)
c.5436C>T (p.Asp1812=)
c.5136C>T (p.Asp1712=)
c.2400C>T (p.Asp800=)
c.1293C>T (p.Asp431=)
c.5319C>T (p.Asp1773=)
c.1071C>T (p.Asp357=)
c.4299C>T (p.Asp1433=)
n.5475C>T
 ClinVar dbSNP gnomAD v4
8g.99642030A=CA1805821023VPS13Bc.5515A= (p.Ile1839=)
n.5585A=
c.*1197A= (n.*1197A=)
c.5440A= (p.Ile1814=)
c.5512A= (p.Ile1838=)
c.5437A= (p.Ile1813=)
c.5137A= (p.Ile1713=)
c.2401A= (p.Ile801=)
c.1294A= (p.Ile432=)
c.5320A= (p.Ile1774=)
c.1072A= (p.Ile358=)
c.4300A= (p.Ile1434=)
n.5476A=
8g.99642030A>CCA371872555VPS13Bc.5515A>C (p.Ile1839Leu)
n.5585A>C
c.*1197A>C (n.*1197A>C)
c.5440A>C (p.Ile1814Leu)
c.5512A>C (p.Ile1838Leu)
c.5437A>C (p.Ile1813Leu)
c.5137A>C (p.Ile1713Leu)
c.2401A>C (p.Ile801Leu)
c.1294A>C (p.Ile432Leu)
c.5320A>C (p.Ile1774Leu)
c.1072A>C (p.Ile358Leu)
c.4300A>C (p.Ile1434Leu)
n.5476A>C
8g.99642030A>GCA371872556VPS13Bc.5515A>G (p.Ile1839Val)
n.5585A>G
c.*1197A>G (n.*1197A>G)
c.5440A>G (p.Ile1814Val)
c.5512A>G (p.Ile1838Val)
c.5437A>G (p.Ile1813Val)
c.5137A>G (p.Ile1713Val)
c.2401A>G (p.Ile801Val)
c.1294A>G (p.Ile432Val)
c.5320A>G (p.Ile1774Val)
c.1072A>G (p.Ile358Val)
c.4300A>G (p.Ile1434Val)
n.5476A>G
 dbSNP gnomAD v2 gnomAD v4
8g.99642030A>TCA371872557VPS13Bc.5515A>T (p.Ile1839Leu)
n.5585A>T
c.*1197A>T (n.*1197A>T)
c.5440A>T (p.Ile1814Leu)
c.5512A>T (p.Ile1838Leu)
c.5437A>T (p.Ile1813Leu)
c.5137A>T (p.Ile1713Leu)
c.2401A>T (p.Ile801Leu)
c.1294A>T (p.Ile432Leu)
c.5320A>T (p.Ile1774Leu)
c.1072A>T (p.Ile358Leu)
c.4300A>T (p.Ile1434Leu)
n.5476A>T
8g.99642031T>ACA371872558VPS13Bc.5516T>A (p.Ile1839Lys)
n.5586T>A
c.*1198T>A (n.*1198T>A)
c.5441T>A (p.Ile1814Lys)
c.5513T>A (p.Ile1838Lys)
c.5438T>A (p.Ile1813Lys)
c.5138T>A (p.Ile1713Lys)
c.2402T>A (p.Ile801Lys)
c.1295T>A (p.Ile432Lys)
c.5321T>A (p.Ile1774Lys)
c.1073T>A (p.Ile358Lys)
c.4301T>A (p.Ile1434Lys)
n.5477T>A
8g.99642031T>CCA371872559VPS13Bc.5516T>C (p.Ile1839Thr)
n.5586T>C
c.*1198T>C (n.*1198T>C)
c.5441T>C (p.Ile1814Thr)
c.5513T>C (p.Ile1838Thr)
c.5438T>C (p.Ile1813Thr)
c.5138T>C (p.Ile1713Thr)
c.2402T>C (p.Ile801Thr)
c.1295T>C (p.Ile432Thr)
c.5321T>C (p.Ile1774Thr)
c.1073T>C (p.Ile358Thr)
c.4301T>C (p.Ile1434Thr)
n.5477T>C
 dbSNP
8g.99642031T>GCA371872560VPS13Bc.5516T>G (p.Ile1839Arg)
n.5586T>G
c.*1198T>G (n.*1198T>G)
c.5441T>G (p.Ile1814Arg)
c.5513T>G (p.Ile1838Arg)
c.5438T>G (p.Ile1813Arg)
c.5138T>G (p.Ile1713Arg)
c.2402T>G (p.Ile801Arg)
c.1295T>G (p.Ile432Arg)
c.5321T>G (p.Ile1774Arg)
c.1073T>G (p.Ile358Arg)
c.4301T>G (p.Ile1434Arg)
n.5477T>G
8g.99642035_99642038delCA2688066946VPS13Bc.5520_5523del (p.Phe1840LeufsTer8)
n.5590_5593del
c.*1202_*1205del (n.*1202_*1205del)
c.5445_5448del (p.Phe1815LeufsTer8)
c.5517_5520del (p.Phe1839LeufsTer8)
c.5442_5445del (p.Phe1814LeufsTer8)
c.5142_5145del (p.Phe1714LeufsTer8)
c.2406_2409del (p.Phe802LeufsTer8)
c.1299_1302del (p.Phe433LeufsTer8)
c.5325_5328del (p.Phe1775LeufsTer8)
c.1077_1080del (p.Phe359LeufsTer8)
c.4305_4308del (p.Phe1435LeufsTer8)
n.5481_5484del
 gnomAD v4
8g.99642032A=CA1805821026VPS13Bc.5517A= (p.Ile1839=)
n.5587A=
c.*1199A= (n.*1199A=)
c.5442A= (p.Ile1814=)
c.5514A= (p.Ile1838=)
c.5439A= (p.Ile1813=)
c.5139A= (p.Ile1713=)
c.2403A= (p.Ile801=)
c.1296A= (p.Ile432=)
c.5322A= (p.Ile1774=)
c.1074A= (p.Ile358=)
c.4302A= (p.Ile1434=)
n.5478A=
8g.99642032A>CCA462464416VPS13Bc.5517A>C (p.Ile1839=)
n.5587A>C
c.*1199A>C (n.*1199A>C)
c.5442A>C (p.Ile1814=)
c.5514A>C (p.Ile1838=)
c.5439A>C (p.Ile1813=)
c.5139A>C (p.Ile1713=)
c.2403A>C (p.Ile801=)
c.1296A>C (p.Ile432=)
c.5322A>C (p.Ile1774=)
c.1074A>C (p.Ile358=)
c.4302A>C (p.Ile1434=)
n.5478A>C
8g.99642032A>GCA4823822VPS13Bc.5517A>G (p.Ile1839Met)
n.5587A>G
c.*1199A>G (n.*1199A>G)
c.5442A>G (p.Ile1814Met)
c.5514A>G (p.Ile1838Met)
c.5439A>G (p.Ile1813Met)
c.5139A>G (p.Ile1713Met)
c.2403A>G (p.Ile801Met)
c.1296A>G (p.Ile432Met)
c.5322A>G (p.Ile1774Met)
c.1074A>G (p.Ile358Met)
c.4302A>G (p.Ile1434Met)
n.5478A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642032A>TCA462464417VPS13Bc.5517A>T (p.Ile1839=)
n.5587A>T
c.*1199A>T (n.*1199A>T)
c.5442A>T (p.Ile1814=)
c.5514A>T (p.Ile1838=)
c.5439A>T (p.Ile1813=)
c.5139A>T (p.Ile1713=)
c.2403A>T (p.Ile801=)
c.1296A>T (p.Ile432=)
c.5322A>T (p.Ile1774=)
c.1074A>T (p.Ile358=)
c.4302A>T (p.Ile1434=)
n.5478A>T
8g.99642033T>ACA371872561VPS13Bc.5518T>A (p.Phe1840Ile)
n.5588T>A
c.*1200T>A (n.*1200T>A)
c.5443T>A (p.Phe1815Ile)
c.5515T>A (p.Phe1839Ile)
c.5440T>A (p.Phe1814Ile)
c.5140T>A (p.Phe1714Ile)
c.2404T>A (p.Phe802Ile)
c.1297T>A (p.Phe433Ile)
c.5323T>A (p.Phe1775Ile)
c.1075T>A (p.Phe359Ile)
c.4303T>A (p.Phe1435Ile)
n.5479T>A
8g.99642033T>CCA371872562VPS13Bc.5518T>C (p.Phe1840Leu)
n.5588T>C
c.*1200T>C (n.*1200T>C)
c.5443T>C (p.Phe1815Leu)
c.5515T>C (p.Phe1839Leu)
c.5440T>C (p.Phe1814Leu)
c.5140T>C (p.Phe1714Leu)
c.2404T>C (p.Phe802Leu)
c.1297T>C (p.Phe433Leu)
c.5323T>C (p.Phe1775Leu)
c.1075T>C (p.Phe359Leu)
c.4303T>C (p.Phe1435Leu)
n.5479T>C
 gnomAD v4
8g.99642033T>GCA371872563VPS13Bc.5518T>G (p.Phe1840Val)
n.5588T>G
c.*1200T>G (n.*1200T>G)
c.5443T>G (p.Phe1815Val)
c.5515T>G (p.Phe1839Val)
c.5440T>G (p.Phe1814Val)
c.5140T>G (p.Phe1714Val)
c.2404T>G (p.Phe802Val)
c.1297T>G (p.Phe433Val)
c.5323T>G (p.Phe1775Val)
c.1075T>G (p.Phe359Val)
c.4303T>G (p.Phe1435Val)
n.5479T>G
8g.99642034T>ACA371872564VPS13Bc.5519T>A (p.Phe1840Tyr)
n.5589T>A
c.*1201T>A (n.*1201T>A)
c.5444T>A (p.Phe1815Tyr)
c.5516T>A (p.Phe1839Tyr)
c.5441T>A (p.Phe1814Tyr)
c.5141T>A (p.Phe1714Tyr)
c.2405T>A (p.Phe802Tyr)
c.1298T>A (p.Phe433Tyr)
c.5324T>A (p.Phe1775Tyr)
c.1076T>A (p.Phe359Tyr)
c.4304T>A (p.Phe1435Tyr)
n.5480T>A
 gnomAD v4
8g.99642034T>CCA371872565VPS13Bc.5519T>C (p.Phe1840Ser)
n.5589T>C
c.*1201T>C (n.*1201T>C)
c.5444T>C (p.Phe1815Ser)
c.5516T>C (p.Phe1839Ser)
c.5441T>C (p.Phe1814Ser)
c.5141T>C (p.Phe1714Ser)
c.2405T>C (p.Phe802Ser)
c.1298T>C (p.Phe433Ser)
c.5324T>C (p.Phe1775Ser)
c.1076T>C (p.Phe359Ser)
c.4304T>C (p.Phe1435Ser)
n.5480T>C
8g.99642034T>GCA371872566VPS13Bc.5519T>G (p.Phe1840Cys)
n.5589T>G
c.*1201T>G (n.*1201T>G)
c.5444T>G (p.Phe1815Cys)
c.5516T>G (p.Phe1839Cys)
c.5441T>G (p.Phe1814Cys)
c.5141T>G (p.Phe1714Cys)
c.2405T>G (p.Phe802Cys)
c.1298T>G (p.Phe433Cys)
c.5324T>G (p.Phe1775Cys)
c.1076T>G (p.Phe359Cys)
c.4304T>G (p.Phe1435Cys)
n.5480T>G
8g.99642035T>ACA371872567VPS13Bc.5520T>A (p.Phe1840Leu)
n.5590T>A
c.*1202T>A (n.*1202T>A)
c.5445T>A (p.Phe1815Leu)
c.5517T>A (p.Phe1839Leu)
c.5442T>A (p.Phe1814Leu)
c.5142T>A (p.Phe1714Leu)
c.2406T>A (p.Phe802Leu)
c.1299T>A (p.Phe433Leu)
c.5325T>A (p.Phe1775Leu)
c.1077T>A (p.Phe359Leu)
c.4305T>A (p.Phe1435Leu)
n.5481T>A
8g.99642035T>CCA462464419VPS13Bc.5520T>C (p.Phe1840=)
n.5590T>C
c.*1202T>C (n.*1202T>C)
c.5445T>C (p.Phe1815=)
c.5517T>C (p.Phe1839=)
c.5442T>C (p.Phe1814=)
c.5142T>C (p.Phe1714=)
c.2406T>C (p.Phe802=)
c.1299T>C (p.Phe433=)
c.5325T>C (p.Phe1775=)
c.1077T>C (p.Phe359=)
c.4305T>C (p.Phe1435=)
n.5481T>C
 dbSNP gnomAD v2 gnomAD v4
8g.99642035T>GCA371872568VPS13Bc.5520T>G (p.Phe1840Leu)
n.5590T>G
c.*1202T>G (n.*1202T>G)
c.5445T>G (p.Phe1815Leu)
c.5517T>G (p.Phe1839Leu)
c.5442T>G (p.Phe1814Leu)
c.5142T>G (p.Phe1714Leu)
c.2406T>G (p.Phe802Leu)
c.1299T>G (p.Phe433Leu)
c.5325T>G (p.Phe1775Leu)
c.1077T>G (p.Phe359Leu)
c.4305T>G (p.Phe1435Leu)
n.5481T>G
8g.99642035T=CA1805821034VPS13Bc.5520T= (p.Phe1840=)
n.5590T=
c.*1202T= (n.*1202T=)
c.5445T= (p.Phe1815=)
c.5517T= (p.Phe1839=)
c.5442T= (p.Phe1814=)
c.5142T= (p.Phe1714=)
c.2406T= (p.Phe802=)
c.1299T= (p.Phe433=)
c.5325T= (p.Phe1775=)
c.1077T= (p.Phe359=)
c.4305T= (p.Phe1435=)
n.5481T=
8g.99642036A>CCA371872569VPS13Bc.5521A>C (p.Ile1841Leu)
n.5591A>C
c.*1203A>C (n.*1203A>C)
c.5446A>C (p.Ile1816Leu)
c.5518A>C (p.Ile1840Leu)
c.5443A>C (p.Ile1815Leu)
c.5143A>C (p.Ile1715Leu)
c.2407A>C (p.Ile803Leu)
c.1300A>C (p.Ile434Leu)
c.5326A>C (p.Ile1776Leu)
c.1078A>C (p.Ile360Leu)
c.4306A>C (p.Ile1436Leu)
n.5482A>C
8g.99642036A>GCA371872570VPS13Bc.5521A>G (p.Ile1841Val)
n.5591A>G
c.*1203A>G (n.*1203A>G)
c.5446A>G (p.Ile1816Val)
c.5518A>G (p.Ile1840Val)
c.5443A>G (p.Ile1815Val)
c.5143A>G (p.Ile1715Val)
c.2407A>G (p.Ile803Val)
c.1300A>G (p.Ile434Val)
c.5326A>G (p.Ile1776Val)
c.1078A>G (p.Ile360Val)
c.4306A>G (p.Ile1436Val)
n.5482A>G
 gnomAD v4
8g.99642036A>TCA371872571VPS13Bc.5521A>T (p.Ile1841Phe)
n.5591A>T
c.*1203A>T (n.*1203A>T)
c.5446A>T (p.Ile1816Phe)
c.5518A>T (p.Ile1840Phe)
c.5443A>T (p.Ile1815Phe)
c.5143A>T (p.Ile1715Phe)
c.2407A>T (p.Ile803Phe)
c.1300A>T (p.Ile434Phe)
c.5326A>T (p.Ile1776Phe)
c.1078A>T (p.Ile360Phe)
c.4306A>T (p.Ile1436Phe)
n.5482A>T
8g.99642037T>ACA371872572VPS13Bc.5522T>A (p.Ile1841Asn)
n.5592T>A
c.*1204T>A (n.*1204T>A)
c.5447T>A (p.Ile1816Asn)
c.5519T>A (p.Ile1840Asn)
c.5444T>A (p.Ile1815Asn)
c.5144T>A (p.Ile1715Asn)
c.2408T>A (p.Ile803Asn)
c.1301T>A (p.Ile434Asn)
c.5327T>A (p.Ile1776Asn)
c.1079T>A (p.Ile360Asn)
c.4307T>A (p.Ile1436Asn)
n.5483T>A
8g.99642037T>CCA371872573VPS13Bc.5522T>C (p.Ile1841Thr)
n.5592T>C
c.*1204T>C (n.*1204T>C)
c.5447T>C (p.Ile1816Thr)
c.5519T>C (p.Ile1840Thr)
c.5444T>C (p.Ile1815Thr)
c.5144T>C (p.Ile1715Thr)
c.2408T>C (p.Ile803Thr)
c.1301T>C (p.Ile434Thr)
c.5327T>C (p.Ile1776Thr)
c.1079T>C (p.Ile360Thr)
c.4307T>C (p.Ile1436Thr)
n.5483T>C
8g.99642037T>GCA371872574VPS13Bc.5522T>G (p.Ile1841Ser)
n.5592T>G
c.*1204T>G (n.*1204T>G)
c.5447T>G (p.Ile1816Ser)
c.5519T>G (p.Ile1840Ser)
c.5444T>G (p.Ile1815Ser)
c.5144T>G (p.Ile1715Ser)
c.2408T>G (p.Ile803Ser)
c.1301T>G (p.Ile434Ser)
c.5327T>G (p.Ile1776Ser)
c.1079T>G (p.Ile360Ser)
c.4307T>G (p.Ile1436Ser)
n.5483T>G
8g.99642038T>ACA462464422VPS13Bc.5523T>A (p.Ile1841=)
n.5593T>A
c.*1205T>A (n.*1205T>A)
c.5448T>A (p.Ile1816=)
c.5520T>A (p.Ile1840=)
c.5445T>A (p.Ile1815=)
c.5145T>A (p.Ile1715=)
c.2409T>A (p.Ile803=)
c.1302T>A (p.Ile434=)
c.5328T>A (p.Ile1776=)
c.1080T>A (p.Ile360=)
c.4308T>A (p.Ile1436=)
n.5484T>A
8g.99642038T>CCA462464423VPS13Bc.5523T>C (p.Ile1841=)
n.5593T>C
c.*1205T>C (n.*1205T>C)
c.5448T>C (p.Ile1816=)
c.5520T>C (p.Ile1840=)
c.5445T>C (p.Ile1815=)
c.5145T>C (p.Ile1715=)
c.2409T>C (p.Ile803=)
c.1302T>C (p.Ile434=)
c.5328T>C (p.Ile1776=)
c.1080T>C (p.Ile360=)
c.4308T>C (p.Ile1436=)
n.5484T>C
 ClinVar dbSNP
8g.99642038T>GCA371872575VPS13Bc.5523T>G (p.Ile1841Met)
n.5593T>G
c.*1205T>G (n.*1205T>G)
c.5448T>G (p.Ile1816Met)
c.5520T>G (p.Ile1840Met)
c.5445T>G (p.Ile1815Met)
c.5145T>G (p.Ile1715Met)
c.2409T>G (p.Ile803Met)
c.1302T>G (p.Ile434Met)
c.5328T>G (p.Ile1776Met)
c.1080T>G (p.Ile360Met)
c.4308T>G (p.Ile1436Met)
n.5484T>G
8g.99642039A>CCA371872576VPS13Bc.5524A>C (p.Thr1842Pro)
n.5594A>C
c.*1206A>C (n.*1206A>C)
c.5449A>C (p.Thr1817Pro)
c.5521A>C (p.Thr1841Pro)
c.5446A>C (p.Thr1816Pro)
c.5146A>C (p.Thr1716Pro)
c.2410A>C (p.Thr804Pro)
c.1303A>C (p.Thr435Pro)
c.5329A>C (p.Thr1777Pro)
c.1081A>C (p.Thr361Pro)
c.4309A>C (p.Thr1437Pro)
n.5485A>C
8g.99642039A>GCA371872577VPS13Bc.5524A>G (p.Thr1842Ala)
n.5594A>G
c.*1206A>G (n.*1206A>G)
c.5449A>G (p.Thr1817Ala)
c.5521A>G (p.Thr1841Ala)
c.5446A>G (p.Thr1816Ala)
c.5146A>G (p.Thr1716Ala)
c.2410A>G (p.Thr804Ala)
c.1303A>G (p.Thr435Ala)
c.5329A>G (p.Thr1777Ala)
c.1081A>G (p.Thr361Ala)
c.4309A>G (p.Thr1437Ala)
n.5485A>G
8g.99642039A>TCA371872578VPS13Bc.5524A>T (p.Thr1842Ser)
n.5594A>T
c.*1206A>T (n.*1206A>T)
c.5449A>T (p.Thr1817Ser)
c.5521A>T (p.Thr1841Ser)
c.5446A>T (p.Thr1816Ser)
c.5146A>T (p.Thr1716Ser)
c.2410A>T (p.Thr804Ser)
c.1303A>T (p.Thr435Ser)
c.5329A>T (p.Thr1777Ser)
c.1081A>T (p.Thr361Ser)
c.4309A>T (p.Thr1437Ser)
n.5485A>T
8g.99642040C>ACA371872579VPS13Bc.5525C>A (p.Thr1842Asn)
n.5595C>A
c.*1207C>A (n.*1207C>A)
c.5450C>A (p.Thr1817Asn)
c.5522C>A (p.Thr1841Asn)
c.5447C>A (p.Thr1816Asn)
c.5147C>A (p.Thr1716Asn)
c.2411C>A (p.Thr804Asn)
c.1304C>A (p.Thr435Asn)
c.5330C>A (p.Thr1777Asn)
c.1082C>A (p.Thr361Asn)
c.4310C>A (p.Thr1437Asn)
n.5486C>A
8g.99642040C=CA1805821039VPS13Bc.5525C= (p.Thr1842=)
n.5595C=
c.*1207C= (n.*1207C=)
c.5450C= (p.Thr1817=)
c.5522C= (p.Thr1841=)
c.5447C= (p.Thr1816=)
c.5147C= (p.Thr1716=)
c.2411C= (p.Thr804=)
c.1304C= (p.Thr435=)
c.5330C= (p.Thr1777=)
c.1082C= (p.Thr361=)
c.4310C= (p.Thr1437=)
n.5486C=
8g.99642040C>GCA371872580VPS13Bc.5525C>G (p.Thr1842Ser)
n.5595C>G
c.*1207C>G (n.*1207C>G)
c.5450C>G (p.Thr1817Ser)
c.5522C>G (p.Thr1841Ser)
c.5447C>G (p.Thr1816Ser)
c.5147C>G (p.Thr1716Ser)
c.2411C>G (p.Thr804Ser)
c.1304C>G (p.Thr435Ser)
c.5330C>G (p.Thr1777Ser)
c.1082C>G (p.Thr361Ser)
c.4310C>G (p.Thr1437Ser)
n.5486C>G
8g.99642040C>TCA371872581VPS13Bc.5525C>T (p.Thr1842Ile)
n.5595C>T
c.*1207C>T (n.*1207C>T)
c.5450C>T (p.Thr1817Ile)
c.5522C>T (p.Thr1841Ile)
c.5447C>T (p.Thr1816Ile)
c.5147C>T (p.Thr1716Ile)
c.2411C>T (p.Thr804Ile)
c.1304C>T (p.Thr435Ile)
c.5330C>T (p.Thr1777Ile)
c.1082C>T (p.Thr361Ile)
c.4310C>T (p.Thr1437Ile)
n.5486C>T
 dbSNP
8g.99642041T>ACA462464425VPS13Bc.5526T>A (p.Thr1842=)
n.5596T>A
c.*1208T>A (n.*1208T>A)
c.5451T>A (p.Thr1817=)
c.5523T>A (p.Thr1841=)
c.5448T>A (p.Thr1816=)
c.5148T>A (p.Thr1716=)
c.2412T>A (p.Thr804=)
c.1305T>A (p.Thr435=)
c.5331T>A (p.Thr1777=)
c.1083T>A (p.Thr361=)
c.4311T>A (p.Thr1437=)
n.5487T>A
8g.99642041T>CCA462464426VPS13Bc.5526T>C (p.Thr1842=)
n.5596T>C
c.*1208T>C (n.*1208T>C)
c.5451T>C (p.Thr1817=)
c.5523T>C (p.Thr1841=)
c.5448T>C (p.Thr1816=)
c.5148T>C (p.Thr1716=)
c.2412T>C (p.Thr804=)
c.1305T>C (p.Thr435=)
c.5331T>C (p.Thr1777=)
c.1083T>C (p.Thr361=)
c.4311T>C (p.Thr1437=)
n.5487T>C
8g.99642041T>GCA462464427VPS13Bc.5526T>G (p.Thr1842=)
n.5596T>G
c.*1208T>G (n.*1208T>G)
c.5451T>G (p.Thr1817=)
c.5523T>G (p.Thr1841=)
c.5448T>G (p.Thr1816=)
c.5148T>G (p.Thr1716=)
c.2412T>G (p.Thr804=)
c.1305T>G (p.Thr435=)
c.5331T>G (p.Thr1777=)
c.1083T>G (p.Thr361=)
c.4311T>G (p.Thr1437=)
n.5487T>G
 gnomAD v4
8g.99642042G>ACA371872584VPS13Bc.5527G>A (p.Ala1843Thr)
n.5597G>A
c.*1209G>A (n.*1209G>A)
c.5452G>A (p.Ala1818Thr)
c.5524G>A (p.Ala1842Thr)
c.5449G>A (p.Ala1817Thr)
c.5149G>A (p.Ala1717Thr)
c.2413G>A (p.Ala805Thr)
c.1306G>A (p.Ala436Thr)
c.5332G>A (p.Ala1778Thr)
c.1084G>A (p.Ala362Thr)
c.4312G>A (p.Ala1438Thr)
n.5488G>A
 gnomAD v4
8g.99642042G>CCA371872582VPS13Bc.5527G>C (p.Ala1843Pro)
n.5597G>C
c.*1209G>C (n.*1209G>C)
c.5452G>C (p.Ala1818Pro)
c.5524G>C (p.Ala1842Pro)
c.5449G>C (p.Ala1817Pro)
c.5149G>C (p.Ala1717Pro)
c.2413G>C (p.Ala805Pro)
c.1306G>C (p.Ala436Pro)
c.5332G>C (p.Ala1778Pro)
c.1084G>C (p.Ala362Pro)
c.4312G>C (p.Ala1438Pro)
n.5488G>C
8g.99642042G=CA1805821044VPS13Bc.5527G= (p.Ala1843=)
n.5597G=
c.*1209G= (n.*1209G=)
c.5452G= (p.Ala1818=)
c.5524G= (p.Ala1842=)
c.5449G= (p.Ala1817=)
c.5149G= (p.Ala1717=)
c.2413G= (p.Ala805=)
c.1306G= (p.Ala436=)
c.5332G= (p.Ala1778=)
c.1084G= (p.Ala362=)
c.4312G= (p.Ala1438=)
n.5488G=
8g.99642042G>TCA371872583VPS13Bc.5527G>T (p.Ala1843Ser)
n.5597G>T
c.*1209G>T (n.*1209G>T)
c.5452G>T (p.Ala1818Ser)
c.5524G>T (p.Ala1842Ser)
c.5449G>T (p.Ala1817Ser)
c.5149G>T (p.Ala1717Ser)
c.2413G>T (p.Ala805Ser)
c.1306G>T (p.Ala436Ser)
c.5332G>T (p.Ala1778Ser)
c.1084G>T (p.Ala362Ser)
c.4312G>T (p.Ala1438Ser)
n.5488G>T
 dbSNP gnomAD v4
8g.99642043C>ACA371872585VPS13Bc.5528C>A (p.Ala1843Glu)
n.5598C>A
c.*1210C>A (n.*1210C>A)
c.5453C>A (p.Ala1818Glu)
c.5525C>A (p.Ala1842Glu)
c.5450C>A (p.Ala1817Glu)
c.5150C>A (p.Ala1717Glu)
c.2414C>A (p.Ala805Glu)
c.1307C>A (p.Ala436Glu)
c.5333C>A (p.Ala1778Glu)
c.1085C>A (p.Ala362Glu)
c.4313C>A (p.Ala1438Glu)
n.5489C>A
8g.99642043C>GCA371872586VPS13Bc.5528C>G (p.Ala1843Gly)
n.5598C>G
c.*1210C>G (n.*1210C>G)
c.5453C>G (p.Ala1818Gly)
c.5525C>G (p.Ala1842Gly)
c.5450C>G (p.Ala1817Gly)
c.5150C>G (p.Ala1717Gly)
c.2414C>G (p.Ala805Gly)
c.1307C>G (p.Ala436Gly)
c.5333C>G (p.Ala1778Gly)
c.1085C>G (p.Ala362Gly)
c.4313C>G (p.Ala1438Gly)
n.5489C>G
8g.99642043C>TCA371872587VPS13Bc.5528C>T (p.Ala1843Val)
n.5598C>T
c.*1210C>T (n.*1210C>T)
c.5453C>T (p.Ala1818Val)
c.5525C>T (p.Ala1842Val)
c.5450C>T (p.Ala1817Val)
c.5150C>T (p.Ala1717Val)
c.2414C>T (p.Ala805Val)
c.1307C>T (p.Ala436Val)
c.5333C>T (p.Ala1778Val)
c.1085C>T (p.Ala362Val)
c.4313C>T (p.Ala1438Val)
n.5489C>T
8g.99642044A>CCA462464265VPS13Bc.5529A>C (p.Ala1843=)
n.5599A>C
c.*1211A>C (n.*1211A>C)
c.5454A>C (p.Ala1818=)
c.5526A>C (p.Ala1842=)
c.5451A>C (p.Ala1817=)
c.5151A>C (p.Ala1717=)
c.2415A>C (p.Ala805=)
c.1308A>C (p.Ala436=)
c.5334A>C (p.Ala1778=)
c.1086A>C (p.Ala362=)
c.4314A>C (p.Ala1438=)
n.5490A>C
8g.99642044A>GCA462464266VPS13Bc.5529A>G (p.Ala1843=)
n.5599A>G
c.*1211A>G (n.*1211A>G)
c.5454A>G (p.Ala1818=)
c.5526A>G (p.Ala1842=)
c.5451A>G (p.Ala1817=)
c.5151A>G (p.Ala1717=)
c.2415A>G (p.Ala805=)
c.1308A>G (p.Ala436=)
c.5334A>G (p.Ala1778=)
c.1086A>G (p.Ala362=)
c.4314A>G (p.Ala1438=)
n.5490A>G
8g.99642044A>TCA462464267VPS13Bc.5529A>T (p.Ala1843=)
n.5599A>T
c.*1211A>T (n.*1211A>T)
c.5454A>T (p.Ala1818=)
c.5526A>T (p.Ala1842=)
c.5451A>T (p.Ala1817=)
c.5151A>T (p.Ala1717=)
c.2415A>T (p.Ala805=)
c.1308A>T (p.Ala436=)
c.5334A>T (p.Ala1778=)
c.1086A>T (p.Ala362=)
c.4314A>T (p.Ala1438=)
n.5490A>T
8g.99642045A>CCA371872588VPS13Bc.5530A>C (p.Ser1844Arg)
n.5600A>C
c.*1212A>C (n.*1212A>C)
c.5455A>C (p.Ser1819Arg)
c.5527A>C (p.Ser1843Arg)
c.5452A>C (p.Ser1818Arg)
c.5152A>C (p.Ser1718Arg)
c.2416A>C (p.Ser806Arg)
c.1309A>C (p.Ser437Arg)
c.5335A>C (p.Ser1779Arg)
c.1087A>C (p.Ser363Arg)
c.4315A>C (p.Ser1439Arg)
n.5491A>C
8g.99642045A>GCA371872589VPS13Bc.5530A>G (p.Ser1844Gly)
n.5600A>G
c.*1212A>G (n.*1212A>G)
c.5455A>G (p.Ser1819Gly)
c.5527A>G (p.Ser1843Gly)
c.5452A>G (p.Ser1818Gly)
c.5152A>G (p.Ser1718Gly)
c.2416A>G (p.Ser806Gly)
c.1309A>G (p.Ser437Gly)
c.5335A>G (p.Ser1779Gly)
c.1087A>G (p.Ser363Gly)
c.4315A>G (p.Ser1439Gly)
n.5491A>G
 gnomAD v3 gnomAD v4
8g.99642045A>TCA371872590VPS13Bc.5530A>T (p.Ser1844Cys)
n.5600A>T
c.*1212A>T (n.*1212A>T)
c.5455A>T (p.Ser1819Cys)
c.5527A>T (p.Ser1843Cys)
c.5452A>T (p.Ser1818Cys)
c.5152A>T (p.Ser1718Cys)
c.2416A>T (p.Ser806Cys)
c.1309A>T (p.Ser437Cys)
c.5335A>T (p.Ser1779Cys)
c.1087A>T (p.Ser363Cys)
c.4315A>T (p.Ser1439Cys)
n.5491A>T
8g.99642046G>ACA371872591VPS13Bc.5531G>A (p.Ser1844Asn)
n.5601G>A
c.*1213G>A (n.*1213G>A)
c.5456G>A (p.Ser1819Asn)
c.5528G>A (p.Ser1843Asn)
c.5453G>A (p.Ser1818Asn)
c.5153G>A (p.Ser1718Asn)
c.2417G>A (p.Ser806Asn)
c.1310G>A (p.Ser437Asn)
c.5336G>A (p.Ser1779Asn)
c.1088G>A (p.Ser363Asn)
c.4316G>A (p.Ser1439Asn)
n.5492G>A
8g.99642046G>CCA371872592VPS13Bc.5531G>C (p.Ser1844Thr)
n.5601G>C
c.*1213G>C (n.*1213G>C)
c.5456G>C (p.Ser1819Thr)
c.5528G>C (p.Ser1843Thr)
c.5453G>C (p.Ser1818Thr)
c.5153G>C (p.Ser1718Thr)
c.2417G>C (p.Ser806Thr)
c.1310G>C (p.Ser437Thr)
c.5336G>C (p.Ser1779Thr)
c.1088G>C (p.Ser363Thr)
c.4316G>C (p.Ser1439Thr)
n.5492G>C
8g.99642046G>TCA371872593VPS13Bc.5531G>T (p.Ser1844Ile)
n.5601G>T
c.*1213G>T (n.*1213G>T)
c.5456G>T (p.Ser1819Ile)
c.5528G>T (p.Ser1843Ile)
c.5453G>T (p.Ser1818Ile)
c.5153G>T (p.Ser1718Ile)
c.2417G>T (p.Ser806Ile)
c.1310G>T (p.Ser437Ile)
c.5336G>T (p.Ser1779Ile)
c.1088G>T (p.Ser363Ile)
c.4316G>T (p.Ser1439Ile)
n.5492G>T
8g.99642047T>ACA371872594VPS13Bc.5532T>A (p.Ser1844Arg)
n.5602T>A
c.*1214T>A (n.*1214T>A)
c.5457T>A (p.Ser1819Arg)
c.5529T>A (p.Ser1843Arg)
c.5454T>A (p.Ser1818Arg)
c.5154T>A (p.Ser1718Arg)
c.2418T>A (p.Ser806Arg)
c.1311T>A (p.Ser437Arg)
c.5337T>A (p.Ser1779Arg)
c.1089T>A (p.Ser363Arg)
c.4317T>A (p.Ser1439Arg)
n.5493T>A
8g.99642047T>CCA462464271VPS13Bc.5532T>C (p.Ser1844=)
n.5602T>C
c.*1214T>C (n.*1214T>C)
c.5457T>C (p.Ser1819=)
c.5529T>C (p.Ser1843=)
c.5454T>C (p.Ser1818=)
c.5154T>C (p.Ser1718=)
c.2418T>C (p.Ser806=)
c.1311T>C (p.Ser437=)
c.5337T>C (p.Ser1779=)
c.1089T>C (p.Ser363=)
c.4317T>C (p.Ser1439=)
n.5493T>C
 gnomAD v4
8g.99642047T>GCA371872595VPS13Bc.5532T>G (p.Ser1844Arg)
n.5602T>G
c.*1214T>G (n.*1214T>G)
c.5457T>G (p.Ser1819Arg)
c.5529T>G (p.Ser1843Arg)
c.5454T>G (p.Ser1818Arg)
c.5154T>G (p.Ser1718Arg)
c.2418T>G (p.Ser806Arg)
c.1311T>G (p.Ser437Arg)
c.5337T>G (p.Ser1779Arg)
c.1089T>G (p.Ser363Arg)
c.4317T>G (p.Ser1439Arg)
n.5493T>G
8g.99642048A>CCA462464273VPS13Bc.5533A>C (p.Arg1845=)
n.5603A>C
c.*1215A>C (n.*1215A>C)
c.5458A>C (p.Arg1820=)
c.5530A>C (p.Arg1844=)
c.5455A>C (p.Arg1819=)
c.5155A>C (p.Arg1719=)
c.2419A>C (p.Arg807=)
c.1312A>C (p.Arg438=)
c.5338A>C (p.Arg1780=)
c.1090A>C (p.Arg364=)
c.4318A>C (p.Arg1440=)
n.5494A>C
8g.99642048A>GCA371872596VPS13Bc.5533A>G (p.Arg1845Gly)
n.5603A>G
c.*1215A>G (n.*1215A>G)
c.5458A>G (p.Arg1820Gly)
c.5530A>G (p.Arg1844Gly)
c.5455A>G (p.Arg1819Gly)
c.5155A>G (p.Arg1719Gly)
c.2419A>G (p.Arg807Gly)
c.1312A>G (p.Arg438Gly)
c.5338A>G (p.Arg1780Gly)
c.1090A>G (p.Arg364Gly)
c.4318A>G (p.Arg1440Gly)
n.5494A>G
 gnomAD v4
8g.99642048A>TCA371872597VPS13Bc.5533A>T (p.Arg1845Ter)
n.5603A>T
c.*1215A>T (n.*1215A>T)
c.5458A>T (p.Arg1820Ter)
c.5530A>T (p.Arg1844Ter)
c.5455A>T (p.Arg1819Ter)
c.5155A>T (p.Arg1719Ter)
c.2419A>T (p.Arg807Ter)
c.1312A>T (p.Arg438Ter)
c.5338A>T (p.Arg1780Ter)
c.1090A>T (p.Arg364Ter)
c.4318A>T (p.Arg1440Ter)
n.5494A>T
8g.99642049G>ACA371872600VPS13Bc.5534G>A (p.Arg1845Lys)
n.5604G>A
c.*1216G>A (n.*1216G>A)
c.5459G>A (p.Arg1820Lys)
c.5531G>A (p.Arg1844Lys)
c.5456G>A (p.Arg1819Lys)
c.5156G>A (p.Arg1719Lys)
c.2420G>A (p.Arg807Lys)
c.1313G>A (p.Arg438Lys)
c.5339G>A (p.Arg1780Lys)
c.1091G>A (p.Arg364Lys)
c.4319G>A (p.Arg1440Lys)
n.5495G>A
8g.99642049G>CCA371872599VPS13Bc.5534G>C (p.Arg1845Thr)
n.5604G>C
c.*1216G>C (n.*1216G>C)
c.5459G>C (p.Arg1820Thr)
c.5531G>C (p.Arg1844Thr)
c.5456G>C (p.Arg1819Thr)
c.5156G>C (p.Arg1719Thr)
c.2420G>C (p.Arg807Thr)
c.1313G>C (p.Arg438Thr)
c.5339G>C (p.Arg1780Thr)
c.1091G>C (p.Arg364Thr)
c.4319G>C (p.Arg1440Thr)
n.5495G>C
8g.99642049G>TCA371872598VPS13Bc.5534G>T (p.Arg1845Ile)
n.5604G>T
c.*1216G>T (n.*1216G>T)
c.5459G>T (p.Arg1820Ile)
c.5531G>T (p.Arg1844Ile)
c.5456G>T (p.Arg1819Ile)
c.5156G>T (p.Arg1719Ile)
c.2420G>T (p.Arg807Ile)
c.1313G>T (p.Arg438Ile)
c.5339G>T (p.Arg1780Ile)
c.1091G>T (p.Arg364Ile)
c.4319G>T (p.Arg1440Ile)
n.5495G>T
8g.99642050A>CCA371872601VPS13Bc.5535A>C (p.Arg1845Ser)
n.5605A>C
c.*1217A>C (n.*1217A>C)
c.5460A>C (p.Arg1820Ser)
c.5532A>C (p.Arg1844Ser)
c.5457A>C (p.Arg1819Ser)
c.5157A>C (p.Arg1719Ser)
c.2421A>C (p.Arg807Ser)
c.1314A>C (p.Arg438Ser)
c.5340A>C (p.Arg1780Ser)
c.1092A>C (p.Arg364Ser)
c.4320A>C (p.Arg1440Ser)
n.5496A>C
8g.99642050A>GCA462464274VPS13Bc.5535A>G (p.Arg1845=)
n.5605A>G
c.*1217A>G (n.*1217A>G)
c.5460A>G (p.Arg1820=)
c.5532A>G (p.Arg1844=)
c.5457A>G (p.Arg1819=)
c.5157A>G (p.Arg1719=)
c.2421A>G (p.Arg807=)
c.1314A>G (p.Arg438=)
c.5340A>G (p.Arg1780=)
c.1092A>G (p.Arg364=)
c.4320A>G (p.Arg1440=)
n.5496A>G
8g.99642050A>TCA371872602VPS13Bc.5535A>T (p.Arg1845Ser)
n.5605A>T
c.*1217A>T (n.*1217A>T)
c.5460A>T (p.Arg1820Ser)
c.5532A>T (p.Arg1844Ser)
c.5457A>T (p.Arg1819Ser)
c.5157A>T (p.Arg1719Ser)
c.2421A>T (p.Arg807Ser)
c.1314A>T (p.Arg438Ser)
c.5340A>T (p.Arg1780Ser)
c.1092A>T (p.Arg364Ser)
c.4320A>T (p.Arg1440Ser)
n.5496A>T
8g.99642051A>CCA371872603VPS13Bc.5536A>C (p.Ile1846Leu)
n.5606A>C
c.*1218A>C (n.*1218A>C)
c.5461A>C (p.Ile1821Leu)
c.5533A>C (p.Ile1845Leu)
c.5458A>C (p.Ile1820Leu)
c.5158A>C (p.Ile1720Leu)
c.2422A>C (p.Ile808Leu)
c.1315A>C (p.Ile439Leu)
c.5341A>C (p.Ile1781Leu)
c.1093A>C (p.Ile365Leu)
c.4321A>C (p.Ile1441Leu)
n.5497A>C
8g.99642051A>GCA371872604VPS13Bc.5536A>G (p.Ile1846Val)
n.5606A>G
c.*1218A>G (n.*1218A>G)
c.5461A>G (p.Ile1821Val)
c.5533A>G (p.Ile1845Val)
c.5458A>G (p.Ile1820Val)
c.5158A>G (p.Ile1720Val)
c.2422A>G (p.Ile808Val)
c.1315A>G (p.Ile439Val)
c.5341A>G (p.Ile1781Val)
c.1093A>G (p.Ile365Val)
c.4321A>G (p.Ile1441Val)
n.5497A>G
8g.99642051A>TCA371872605VPS13Bc.5536A>T (p.Ile1846Phe)
n.5606A>T
c.*1218A>T (n.*1218A>T)
c.5461A>T (p.Ile1821Phe)
c.5533A>T (p.Ile1845Phe)
c.5458A>T (p.Ile1820Phe)
c.5158A>T (p.Ile1720Phe)
c.2422A>T (p.Ile808Phe)
c.1315A>T (p.Ile439Phe)
c.5341A>T (p.Ile1781Phe)
c.1093A>T (p.Ile365Phe)
c.4321A>T (p.Ile1441Phe)
n.5497A>T
8g.99642052T>ACA371872606VPS13Bc.5537T>A (p.Ile1846Asn)
n.5607T>A
c.*1219T>A (n.*1219T>A)
c.5462T>A (p.Ile1821Asn)
c.5534T>A (p.Ile1845Asn)
c.5459T>A (p.Ile1820Asn)
c.5159T>A (p.Ile1720Asn)
c.2423T>A (p.Ile808Asn)
c.1316T>A (p.Ile439Asn)
c.5342T>A (p.Ile1781Asn)
c.1094T>A (p.Ile365Asn)
c.4322T>A (p.Ile1441Asn)
n.5498T>A
8g.99642052T>CCA371872607VPS13Bc.5537T>C (p.Ile1846Thr)
n.5607T>C
c.*1219T>C (n.*1219T>C)
c.5462T>C (p.Ile1821Thr)
c.5534T>C (p.Ile1845Thr)
c.5459T>C (p.Ile1820Thr)
c.5159T>C (p.Ile1720Thr)
c.2423T>C (p.Ile808Thr)
c.1316T>C (p.Ile439Thr)
c.5342T>C (p.Ile1781Thr)
c.1094T>C (p.Ile365Thr)
c.4322T>C (p.Ile1441Thr)
n.5498T>C
8g.99642052T>GCA371872608VPS13Bc.5537T>G (p.Ile1846Ser)
n.5607T>G
c.*1219T>G (n.*1219T>G)
c.5462T>G (p.Ile1821Ser)
c.5534T>G (p.Ile1845Ser)
c.5459T>G (p.Ile1820Ser)
c.5159T>G (p.Ile1720Ser)
c.2423T>G (p.Ile808Ser)
c.1316T>G (p.Ile439Ser)
c.5342T>G (p.Ile1781Ser)
c.1094T>G (p.Ile365Ser)
c.4322T>G (p.Ile1441Ser)
n.5498T>G
8g.99642053C>ACA4823823VPS13Bc.5538C>A (p.Ile1846=)
n.5608C>A
c.*1220C>A (n.*1220C>A)
c.5463C>A (p.Ile1821=)
c.5535C>A (p.Ile1845=)
c.5460C>A (p.Ile1820=)
c.5160C>A (p.Ile1720=)
c.2424C>A (p.Ile808=)
c.1317C>A (p.Ile439=)
c.5343C>A (p.Ile1781=)
c.1095C>A (p.Ile365=)
c.4323C>A (p.Ile1441=)
n.5499C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642053C=CA1805821052VPS13Bc.5538C= (p.Ile1846=)
n.5608C=
c.*1220C= (n.*1220C=)
c.5463C= (p.Ile1821=)
c.5535C= (p.Ile1845=)
c.5460C= (p.Ile1820=)
c.5160C= (p.Ile1720=)
c.2424C= (p.Ile808=)
c.1317C= (p.Ile439=)
c.5343C= (p.Ile1781=)
c.1095C= (p.Ile365=)
c.4323C= (p.Ile1441=)
n.5499C=
8g.99642053C>GCA371872609VPS13Bc.5538C>G (p.Ile1846Met)
n.5608C>G
c.*1220C>G (n.*1220C>G)
c.5463C>G (p.Ile1821Met)
c.5535C>G (p.Ile1845Met)
c.5460C>G (p.Ile1820Met)
c.5160C>G (p.Ile1720Met)
c.2424C>G (p.Ile808Met)
c.1317C>G (p.Ile439Met)
c.5343C>G (p.Ile1781Met)
c.1095C>G (p.Ile365Met)
c.4323C>G (p.Ile1441Met)
n.5499C>G
 ClinVar
8g.99642053C>TCA462464278VPS13Bc.5538C>T (p.Ile1846=)
n.5608C>T
c.*1220C>T (n.*1220C>T)
c.5463C>T (p.Ile1821=)
c.5535C>T (p.Ile1845=)
c.5460C>T (p.Ile1820=)
c.5160C>T (p.Ile1720=)
c.2424C>T (p.Ile808=)
c.1317C>T (p.Ile439=)
c.5343C>T (p.Ile1781=)
c.1095C>T (p.Ile365=)
c.4323C>T (p.Ile1441=)
n.5499C>T
8g.99642054T>ACA371872610VPS13Bc.5539T>A (p.Ser1847Thr)
n.5609T>A
c.*1221T>A (n.*1221T>A)
c.5464T>A (p.Ser1822Thr)
c.5536T>A (p.Ser1846Thr)
c.5461T>A (p.Ser1821Thr)
c.5161T>A (p.Ser1721Thr)
c.2425T>A (p.Ser809Thr)
c.1318T>A (p.Ser440Thr)
c.5344T>A (p.Ser1782Thr)
c.1096T>A (p.Ser366Thr)
c.4324T>A (p.Ser1442Thr)
n.5500T>A
8g.99642054T>CCA371872611VPS13Bc.5539T>C (p.Ser1847Pro)
n.5609T>C
c.*1221T>C (n.*1221T>C)
c.5464T>C (p.Ser1822Pro)
c.5536T>C (p.Ser1846Pro)
c.5461T>C (p.Ser1821Pro)
c.5161T>C (p.Ser1721Pro)
c.2425T>C (p.Ser809Pro)
c.1318T>C (p.Ser440Pro)
c.5344T>C (p.Ser1782Pro)
c.1096T>C (p.Ser366Pro)
c.4324T>C (p.Ser1442Pro)
n.5500T>C
8g.99642054T>GCA371872612VPS13Bc.5539T>G (p.Ser1847Ala)
n.5609T>G
c.*1221T>G (n.*1221T>G)
c.5464T>G (p.Ser1822Ala)
c.5536T>G (p.Ser1846Ala)
c.5461T>G (p.Ser1821Ala)
c.5161T>G (p.Ser1721Ala)
c.2425T>G (p.Ser809Ala)
c.1318T>G (p.Ser440Ala)
c.5344T>G (p.Ser1782Ala)
c.1096T>G (p.Ser366Ala)
c.4324T>G (p.Ser1442Ala)
n.5500T>G
8g.99642055C>ACA371872615VPS13Bc.5540C>A (p.Ser1847Ter)
n.5610C>A
c.*1222C>A (n.*1222C>A)
c.5465C>A (p.Ser1822Ter)
c.5537C>A (p.Ser1846Ter)
c.5462C>A (p.Ser1821Ter)
c.5162C>A (p.Ser1721Ter)
c.2426C>A (p.Ser809Ter)
c.1319C>A (p.Ser440Ter)
c.5345C>A (p.Ser1782Ter)
c.1097C>A (p.Ser366Ter)
c.4325C>A (p.Ser1442Ter)
n.5501C>A
8g.99642055C=CA1805821060VPS13Bc.5540C= (p.Ser1847=)
n.5610C=
c.*1222C= (n.*1222C=)
c.5465C= (p.Ser1822=)
c.5537C= (p.Ser1846=)
c.5462C= (p.Ser1821=)
c.5162C= (p.Ser1721=)
c.2426C= (p.Ser809=)
c.1319C= (p.Ser440=)
c.5345C= (p.Ser1782=)
c.1097C= (p.Ser366=)
c.4325C= (p.Ser1442=)
n.5501C=
8g.99642055C>GCA371872614VPS13Bc.5540C>G (p.Ser1847Ter)
n.5610C>G
c.*1222C>G (n.*1222C>G)
c.5465C>G (p.Ser1822Ter)
c.5537C>G (p.Ser1846Ter)
c.5462C>G (p.Ser1821Ter)
c.5162C>G (p.Ser1721Ter)
c.2426C>G (p.Ser809Ter)
c.1319C>G (p.Ser440Ter)
c.5345C>G (p.Ser1782Ter)
c.1097C>G (p.Ser366Ter)
c.4325C>G (p.Ser1442Ter)
n.5501C>G
 dbSNP gnomAD v2
8g.99642055C>TCA371872613VPS13Bc.5540C>T (p.Ser1847Leu)
n.5610C>T
c.*1222C>T (n.*1222C>T)
c.5465C>T (p.Ser1822Leu)
c.5537C>T (p.Ser1846Leu)
c.5462C>T (p.Ser1821Leu)
c.5162C>T (p.Ser1721Leu)
c.2426C>T (p.Ser809Leu)
c.1319C>T (p.Ser440Leu)
c.5345C>T (p.Ser1782Leu)
c.1097C>T (p.Ser366Leu)
c.4325C>T (p.Ser1442Leu)
n.5501C>T
8g.99642056A=CA1805821063VPS13Bc.5541A= (p.Ser1847=)
n.5611A=
c.*1223A= (n.*1223A=)
c.5466A= (p.Ser1822=)
c.5538A= (p.Ser1846=)
c.5463A= (p.Ser1821=)
c.5163A= (p.Ser1721=)
c.2427A= (p.Ser809=)
c.1320A= (p.Ser440=)
c.5346A= (p.Ser1782=)
c.1098A= (p.Ser366=)
c.4326A= (p.Ser1442=)
n.5502A=
8g.99642056A>CCA462464281VPS13Bc.5541A>C (p.Ser1847=)
n.5611A>C
c.*1223A>C (n.*1223A>C)
c.5466A>C (p.Ser1822=)
c.5538A>C (p.Ser1846=)
c.5463A>C (p.Ser1821=)
c.5163A>C (p.Ser1721=)
c.2427A>C (p.Ser809=)
c.1320A>C (p.Ser440=)
c.5346A>C (p.Ser1782=)
c.1098A>C (p.Ser366=)
c.4326A>C (p.Ser1442=)
n.5502A>C
8g.99642056A>GCA4823824VPS13Bc.5541A>G (p.Ser1847=)
n.5611A>G
c.*1223A>G (n.*1223A>G)
c.5466A>G (p.Ser1822=)
c.5538A>G (p.Ser1846=)
c.5463A>G (p.Ser1821=)
c.5163A>G (p.Ser1721=)
c.2427A>G (p.Ser809=)
c.1320A>G (p.Ser440=)
c.5346A>G (p.Ser1782=)
c.1098A>G (p.Ser366=)
c.4326A>G (p.Ser1442=)
n.5502A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642056A>TCA462464280VPS13Bc.5541A>T (p.Ser1847=)
n.5611A>T
c.*1223A>T (n.*1223A>T)
c.5466A>T (p.Ser1822=)
c.5538A>T (p.Ser1846=)
c.5463A>T (p.Ser1821=)
c.5163A>T (p.Ser1721=)
c.2427A>T (p.Ser809=)
c.1320A>T (p.Ser440=)
c.5346A>T (p.Ser1782=)
c.1098A>T (p.Ser366=)
c.4326A>T (p.Ser1442=)
n.5502A>T
8g.99642057C>ACA371872616VPS13Bc.5542C>A (p.Leu1848Ile)
n.5612C>A
c.*1224C>A (n.*1224C>A)
c.5467C>A (p.Leu1823Ile)
c.5539C>A (p.Leu1847Ile)
c.5464C>A (p.Leu1822Ile)
c.5164C>A (p.Leu1722Ile)
c.2428C>A (p.Leu810Ile)
c.1321C>A (p.Leu441Ile)
c.5347C>A (p.Leu1783Ile)
c.1099C>A (p.Leu367Ile)
c.4327C>A (p.Leu1443Ile)
n.5503C>A
8g.99642057C>GCA371872617VPS13Bc.5542C>G (p.Leu1848Val)
n.5612C>G
c.*1224C>G (n.*1224C>G)
c.5467C>G (p.Leu1823Val)
c.5539C>G (p.Leu1847Val)
c.5464C>G (p.Leu1822Val)
c.5164C>G (p.Leu1722Val)
c.2428C>G (p.Leu810Val)
c.1321C>G (p.Leu441Val)
c.5347C>G (p.Leu1783Val)
c.1099C>G (p.Leu367Val)
c.4327C>G (p.Leu1443Val)
n.5503C>G
8g.99642057C>TCA462464284VPS13Bc.5542C>T (p.Leu1848=)
n.5612C>T
c.*1224C>T (n.*1224C>T)
c.5467C>T (p.Leu1823=)
c.5539C>T (p.Leu1847=)
c.5464C>T (p.Leu1822=)
c.5164C>T (p.Leu1722=)
c.2428C>T (p.Leu810=)
c.1321C>T (p.Leu441=)
c.5347C>T (p.Leu1783=)
c.1099C>T (p.Leu367=)
c.4327C>T (p.Leu1443=)
n.5503C>T
8g.99642058T>ACA371872618VPS13Bc.5543T>A (p.Leu1848Gln)
n.5613T>A
c.*1225T>A (n.*1225T>A)
c.5468T>A (p.Leu1823Gln)
c.5540T>A (p.Leu1847Gln)
c.5465T>A (p.Leu1822Gln)
c.5165T>A (p.Leu1722Gln)
c.2429T>A (p.Leu810Gln)
c.1322T>A (p.Leu441Gln)
c.5348T>A (p.Leu1783Gln)
c.1100T>A (p.Leu367Gln)
c.4328T>A (p.Leu1443Gln)
n.5504T>A
8g.99642058T>CCA371872619VPS13Bc.5543T>C (p.Leu1848Pro)
n.5613T>C
c.*1225T>C (n.*1225T>C)
c.5468T>C (p.Leu1823Pro)
c.5540T>C (p.Leu1847Pro)
c.5465T>C (p.Leu1822Pro)
c.5165T>C (p.Leu1722Pro)
c.2429T>C (p.Leu810Pro)
c.1322T>C (p.Leu441Pro)
c.5348T>C (p.Leu1783Pro)
c.1100T>C (p.Leu367Pro)
c.4328T>C (p.Leu1443Pro)
n.5504T>C
8g.99642058T>GCA371872620VPS13Bc.5543T>G (p.Leu1848Arg)
n.5613T>G
c.*1225T>G (n.*1225T>G)
c.5468T>G (p.Leu1823Arg)
c.5540T>G (p.Leu1847Arg)
c.5465T>G (p.Leu1822Arg)
c.5165T>G (p.Leu1722Arg)
c.2429T>G (p.Leu810Arg)
c.1322T>G (p.Leu441Arg)
c.5348T>G (p.Leu1783Arg)
c.1100T>G (p.Leu367Arg)
c.4328T>G (p.Leu1443Arg)
n.5504T>G
8g.99642059A=CA1805821072VPS13Bc.5544A= (p.Leu1848=)
n.5614A=
c.*1226A= (n.*1226A=)
c.5469A= (p.Leu1823=)
c.5541A= (p.Leu1847=)
c.5466A= (p.Leu1822=)
c.5166A= (p.Leu1722=)
c.2430A= (p.Leu810=)
c.1323A= (p.Leu441=)
c.5349A= (p.Leu1783=)
c.1101A= (p.Leu367=)
c.4329A= (p.Leu1443=)
n.5505A=
8g.99642059A>CCA462464285VPS13Bc.5544A>C (p.Leu1848=)
n.5614A>C
c.*1226A>C (n.*1226A>C)
c.5469A>C (p.Leu1823=)
c.5541A>C (p.Leu1847=)
c.5466A>C (p.Leu1822=)
c.5166A>C (p.Leu1722=)
c.2430A>C (p.Leu810=)
c.1323A>C (p.Leu441=)
c.5349A>C (p.Leu1783=)
c.1101A>C (p.Leu367=)
c.4329A>C (p.Leu1443=)
n.5505A>C
8g.99642059A>GCA4823825VPS13Bc.5544A>G (p.Leu1848=)
n.5614A>G
c.*1226A>G (n.*1226A>G)
c.5469A>G (p.Leu1823=)
c.5541A>G (p.Leu1847=)
c.5466A>G (p.Leu1822=)
c.5166A>G (p.Leu1722=)
c.2430A>G (p.Leu810=)
c.1323A>G (p.Leu441=)
c.5349A>G (p.Leu1783=)
c.1101A>G (p.Leu367=)
c.4329A>G (p.Leu1443=)
n.5505A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642059A>TCA462464286VPS13Bc.5544A>T (p.Leu1848=)
n.5614A>T
c.*1226A>T (n.*1226A>T)
c.5469A>T (p.Leu1823=)
c.5541A>T (p.Leu1847=)
c.5466A>T (p.Leu1822=)
c.5166A>T (p.Leu1722=)
c.2430A>T (p.Leu810=)
c.1323A>T (p.Leu441=)
c.5349A>T (p.Leu1783=)
c.1101A>T (p.Leu367=)
c.4329A>T (p.Leu1443=)
n.5505A>T
8g.99642060A=CA1805821078VPS13Bc.5545A= (p.Met1849=)
n.5615A=
c.*1227A= (n.*1227A=)
c.5470A= (p.Met1824=)
c.5542A= (p.Met1848=)
c.5467A= (p.Met1823=)
c.5167A= (p.Met1723=)
c.2431A= (p.Met811=)
c.1324A= (p.Met442=)
c.5350A= (p.Met1784=)
c.1102A= (p.Met368=)
c.4330A= (p.Met1444=)
n.5506A=
8g.99642060A>CCA371872621VPS13Bc.5545A>C (p.Met1849Leu)
n.5615A>C
c.*1227A>C (n.*1227A>C)
c.5470A>C (p.Met1824Leu)
c.5542A>C (p.Met1848Leu)
c.5467A>C (p.Met1823Leu)
c.5167A>C (p.Met1723Leu)
c.2431A>C (p.Met811Leu)
c.1324A>C (p.Met442Leu)
c.5350A>C (p.Met1784Leu)
c.1102A>C (p.Met368Leu)
c.4330A>C (p.Met1444Leu)
n.5506A>C
8g.99642060A>GCA4823826VPS13Bc.5545A>G (p.Met1849Val)
n.5615A>G
c.*1227A>G (n.*1227A>G)
c.5470A>G (p.Met1824Val)
c.5542A>G (p.Met1848Val)
c.5467A>G (p.Met1823Val)
c.5167A>G (p.Met1723Val)
c.2431A>G (p.Met811Val)
c.1324A>G (p.Met442Val)
c.5350A>G (p.Met1784Val)
c.1102A>G (p.Met368Val)
c.4330A>G (p.Met1444Val)
n.5506A>G
 dbSNP ExAC
8g.99642060A>TCA371872622VPS13Bc.5545A>T (p.Met1849Leu)
n.5615A>T
c.*1227A>T (n.*1227A>T)
c.5470A>T (p.Met1824Leu)
c.5542A>T (p.Met1848Leu)
c.5467A>T (p.Met1823Leu)
c.5167A>T (p.Met1723Leu)
c.2431A>T (p.Met811Leu)
c.1324A>T (p.Met442Leu)
c.5350A>T (p.Met1784Leu)
c.1102A>T (p.Met368Leu)
c.4330A>T (p.Met1444Leu)
n.5506A>T
8g.99642060_99642061insCAAACCAAACACACCCAACACACA2781472383VPS13Bc.5545_5546insCAAACCAAACACACCCAACACA (p.Met1849ThrfsTer26)
n.5615_5616insCAAACCAAACACACCCAACACA
c.*1227_*1228insCAAACCAAACACACCCAACACA (n.*1227_*1228insCAAACCAAACACACCCAACACA)
c.5470_5471insCAAACCAAACACACCCAACACA (p.Met1824ThrfsTer26)
c.5542_5543insCAAACCAAACACACCCAACACA (p.Met1848ThrfsTer26)
c.5467_5468insCAAACCAAACACACCCAACACA (p.Met1823ThrfsTer26)
c.5167_5168insCAAACCAAACACACCCAACACA (p.Met1723ThrfsTer26)
c.2431_2432insCAAACCAAACACACCCAACACA (p.Met811ThrfsTer26)
c.1324_1325insCAAACCAAACACACCCAACACA (p.Met442ThrfsTer26)
c.5350_5351insCAAACCAAACACACCCAACACA (p.Met1784ThrfsTer26)
c.1102_1103insCAAACCAAACACACCCAACACA (p.Met368ThrfsTer26)
c.4330_4331insCAAACCAAACACACCCAACACA (p.Met1444ThrfsTer26)
n.5506_5507insCAAACCAAACACACCCAACACA
8g.99642061T>ACA371872623VPS13Bc.5546T>A (p.Met1849Lys)
n.5616T>A
c.*1228T>A (n.*1228T>A)
c.5471T>A (p.Met1824Lys)
c.5543T>A (p.Met1848Lys)
c.5468T>A (p.Met1823Lys)
c.5168T>A (p.Met1723Lys)
c.2432T>A (p.Met811Lys)
c.1325T>A (p.Met442Lys)
c.5351T>A (p.Met1784Lys)
c.1103T>A (p.Met368Lys)
c.4331T>A (p.Met1444Lys)
n.5507T>A
8g.99642061T>CCA371872624VPS13Bc.5546T>C (p.Met1849Thr)
n.5616T>C
c.*1228T>C (n.*1228T>C)
c.5471T>C (p.Met1824Thr)
c.5543T>C (p.Met1848Thr)
c.5468T>C (p.Met1823Thr)
c.5168T>C (p.Met1723Thr)
c.2432T>C (p.Met811Thr)
c.1325T>C (p.Met442Thr)
c.5351T>C (p.Met1784Thr)
c.1103T>C (p.Met368Thr)
c.4331T>C (p.Met1444Thr)
n.5507T>C
8g.99642061T>GCA371872625VPS13Bc.5546T>G (p.Met1849Arg)
n.5616T>G
c.*1228T>G (n.*1228T>G)
c.5471T>G (p.Met1824Arg)
c.5543T>G (p.Met1848Arg)
c.5468T>G (p.Met1823Arg)
c.5168T>G (p.Met1723Arg)
c.2432T>G (p.Met811Arg)
c.1325T>G (p.Met442Arg)
c.5351T>G (p.Met1784Arg)
c.1103T>G (p.Met368Arg)
c.4331T>G (p.Met1444Arg)
n.5507T>G
8g.99642062G>ACA4823827VPS13Bc.5547G>A (p.Met1849Ile)
n.5617G>A
c.*1229G>A (n.*1229G>A)
c.5472G>A (p.Met1824Ile)
c.5544G>A (p.Met1848Ile)
c.5469G>A (p.Met1823Ile)
c.5169G>A (p.Met1723Ile)
c.2433G>A (p.Met811Ile)
c.1326G>A (p.Met442Ile)
c.5352G>A (p.Met1784Ile)
c.1104G>A (p.Met368Ile)
c.4332G>A (p.Met1444Ile)
n.5508G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642062G>CCA371872627VPS13Bc.5547G>C (p.Met1849Ile)
n.5617G>C
c.*1229G>C (n.*1229G>C)
c.5472G>C (p.Met1824Ile)
c.5544G>C (p.Met1848Ile)
c.5469G>C (p.Met1823Ile)
c.5169G>C (p.Met1723Ile)
c.2433G>C (p.Met811Ile)
c.1326G>C (p.Met442Ile)
c.5352G>C (p.Met1784Ile)
c.1104G>C (p.Met368Ile)
c.4332G>C (p.Met1444Ile)
n.5508G>C
8g.99642062G=CA1805821085VPS13Bc.5547G= (p.Met1849=)
n.5617G=
c.*1229G= (n.*1229G=)
c.5472G= (p.Met1824=)
c.5544G= (p.Met1848=)
c.5469G= (p.Met1823=)
c.5169G= (p.Met1723=)
c.2433G= (p.Met811=)
c.1326G= (p.Met442=)
c.5352G= (p.Met1784=)
c.1104G= (p.Met368=)
c.4332G= (p.Met1444=)
n.5508G=
8g.99642062G>TCA371872626VPS13Bc.5547G>T (p.Met1849Ile)
n.5617G>T
c.*1229G>T (n.*1229G>T)
c.5472G>T (p.Met1824Ile)
c.5544G>T (p.Met1848Ile)
c.5469G>T (p.Met1823Ile)
c.5169G>T (p.Met1723Ile)
c.2433G>T (p.Met811Ile)
c.1326G>T (p.Met442Ile)
c.5352G>T (p.Met1784Ile)
c.1104G>T (p.Met368Ile)
c.4332G>T (p.Met1444Ile)
n.5508G>T
8g.99642063A>CCA371872628VPS13Bc.5548A>C (p.Thr1850Pro)
n.5618A>C
c.*1230A>C (n.*1230A>C)
c.5473A>C (p.Thr1825Pro)
c.5545A>C (p.Thr1849Pro)
c.5470A>C (p.Thr1824Pro)
c.5170A>C (p.Thr1724Pro)
c.2434A>C (p.Thr812Pro)
c.1327A>C (p.Thr443Pro)
c.5353A>C (p.Thr1785Pro)
c.1105A>C (p.Thr369Pro)
c.4333A>C (p.Thr1445Pro)
n.5509A>C
8g.99642063A>GCA371872629VPS13Bc.5548A>G (p.Thr1850Ala)
n.5618A>G
c.*1230A>G (n.*1230A>G)
c.5473A>G (p.Thr1825Ala)
c.5545A>G (p.Thr1849Ala)
c.5470A>G (p.Thr1824Ala)
c.5170A>G (p.Thr1724Ala)
c.2434A>G (p.Thr812Ala)
c.1327A>G (p.Thr443Ala)
c.5353A>G (p.Thr1785Ala)
c.1105A>G (p.Thr369Ala)
c.4333A>G (p.Thr1445Ala)
n.5509A>G
8g.99642063A>TCA371872630VPS13Bc.5548A>T (p.Thr1850Ser)
n.5618A>T
c.*1230A>T (n.*1230A>T)
c.5473A>T (p.Thr1825Ser)
c.5545A>T (p.Thr1849Ser)
c.5470A>T (p.Thr1824Ser)
c.5170A>T (p.Thr1724Ser)
c.2434A>T (p.Thr812Ser)
c.1327A>T (p.Thr443Ser)
c.5353A>T (p.Thr1785Ser)
c.1105A>T (p.Thr369Ser)
c.4333A>T (p.Thr1445Ser)
n.5509A>T
8g.99642064C>ACA371872631VPS13Bc.5549C>A (p.Thr1850Asn)
n.5619C>A
c.*1231C>A (n.*1231C>A)
c.5474C>A (p.Thr1825Asn)
c.5546C>A (p.Thr1849Asn)
c.5471C>A (p.Thr1824Asn)
c.5171C>A (p.Thr1724Asn)
c.2435C>A (p.Thr812Asn)
c.1328C>A (p.Thr443Asn)
c.5354C>A (p.Thr1785Asn)
c.1106C>A (p.Thr369Asn)
c.4334C>A (p.Thr1445Asn)
n.5510C>A
8g.99642064C>GCA371872632VPS13Bc.5549C>G (p.Thr1850Ser)
n.5619C>G
c.*1231C>G (n.*1231C>G)
c.5474C>G (p.Thr1825Ser)
c.5546C>G (p.Thr1849Ser)
c.5471C>G (p.Thr1824Ser)
c.5171C>G (p.Thr1724Ser)
c.2435C>G (p.Thr812Ser)
c.1328C>G (p.Thr443Ser)
c.5354C>G (p.Thr1785Ser)
c.1106C>G (p.Thr369Ser)
c.4334C>G (p.Thr1445Ser)
n.5510C>G
8g.99642064C>TCA371872633VPS13Bc.5549C>T (p.Thr1850Ile)
n.5619C>T
c.*1231C>T (n.*1231C>T)
c.5474C>T (p.Thr1825Ile)
c.5546C>T (p.Thr1849Ile)
c.5471C>T (p.Thr1824Ile)
c.5171C>T (p.Thr1724Ile)
c.2435C>T (p.Thr812Ile)
c.1328C>T (p.Thr443Ile)
c.5354C>T (p.Thr1785Ile)
c.1106C>T (p.Thr369Ile)
c.4334C>T (p.Thr1445Ile)
n.5510C>T
8g.99642065C>ACA462464295VPS13Bc.5550C>A (p.Thr1850=)
n.5620C>A
c.*1232C>A (n.*1232C>A)
c.5475C>A (p.Thr1825=)
c.5547C>A (p.Thr1849=)
c.5472C>A (p.Thr1824=)
c.5172C>A (p.Thr1724=)
c.2436C>A (p.Thr812=)
c.1329C>A (p.Thr443=)
c.5355C>A (p.Thr1785=)
c.1107C>A (p.Thr369=)
c.4335C>A (p.Thr1445=)
n.5511C>A
8g.99642065C>GCA462464296VPS13Bc.5550C>G (p.Thr1850=)
n.5620C>G
c.*1232C>G (n.*1232C>G)
c.5475C>G (p.Thr1825=)
c.5547C>G (p.Thr1849=)
c.5472C>G (p.Thr1824=)
c.5172C>G (p.Thr1724=)
c.2436C>G (p.Thr812=)
c.1329C>G (p.Thr443=)
c.5355C>G (p.Thr1785=)
c.1107C>G (p.Thr369=)
c.4335C>G (p.Thr1445=)
n.5511C>G
8g.99642065C>TCA462464297VPS13Bc.5550C>T (p.Thr1850=)
n.5620C>T
c.*1232C>T (n.*1232C>T)
c.5475C>T (p.Thr1825=)
c.5547C>T (p.Thr1849=)
c.5472C>T (p.Thr1824=)
c.5172C>T (p.Thr1724=)
c.2436C>T (p.Thr812=)
c.1329C>T (p.Thr443=)
c.5355C>T (p.Thr1785=)
c.1107C>T (p.Thr369=)
c.4335C>T (p.Thr1445=)
n.5511C>T
 ClinVar gnomAD v4
8g.99642066T>ACA371872634VPS13Bc.5551T>A (p.Tyr1851Asn)
n.5621T>A
c.*1233T>A (n.*1233T>A)
c.5476T>A (p.Tyr1826Asn)
c.5548T>A (p.Tyr1850Asn)
c.5473T>A (p.Tyr1825Asn)
c.5173T>A (p.Tyr1725Asn)
c.2437T>A (p.Tyr813Asn)
c.1330T>A (p.Tyr444Asn)
c.5356T>A (p.Tyr1786Asn)
c.1108T>A (p.Tyr370Asn)
c.4336T>A (p.Tyr1446Asn)
n.5512T>A
8g.99642066T>CCA371872635VPS13Bc.5551T>C (p.Tyr1851His)
n.5621T>C
c.*1233T>C (n.*1233T>C)
c.5476T>C (p.Tyr1826His)
c.5548T>C (p.Tyr1850His)
c.5473T>C (p.Tyr1825His)
c.5173T>C (p.Tyr1725His)
c.2437T>C (p.Tyr813His)
c.1330T>C (p.Tyr444His)
c.5356T>C (p.Tyr1786His)
c.1108T>C (p.Tyr370His)
c.4336T>C (p.Tyr1446His)
n.5512T>C
8g.99642066T>GCA371872636VPS13Bc.5551T>G (p.Tyr1851Asp)
n.5621T>G
c.*1233T>G (n.*1233T>G)
c.5476T>G (p.Tyr1826Asp)
c.5548T>G (p.Tyr1850Asp)
c.5473T>G (p.Tyr1825Asp)
c.5173T>G (p.Tyr1725Asp)
c.2437T>G (p.Tyr813Asp)
c.1330T>G (p.Tyr444Asp)
c.5356T>G (p.Tyr1786Asp)
c.1108T>G (p.Tyr370Asp)
c.4336T>G (p.Tyr1446Asp)
n.5512T>G
8g.99642067A=CA1805821093VPS13Bc.5552A= (p.Tyr1851=)
n.5622A=
c.*1234A= (n.*1234A=)
c.5477A= (p.Tyr1826=)
c.5549A= (p.Tyr1850=)
c.5474A= (p.Tyr1825=)
c.5174A= (p.Tyr1725=)
c.2438A= (p.Tyr813=)
c.1331A= (p.Tyr444=)
c.5357A= (p.Tyr1786=)
c.1109A= (p.Tyr370=)
c.4337A= (p.Tyr1446=)
n.5513A=
8g.99642067A>CCA371872637VPS13Bc.5552A>C (p.Tyr1851Ser)
n.5622A>C
c.*1234A>C (n.*1234A>C)
c.5477A>C (p.Tyr1826Ser)
c.5549A>C (p.Tyr1850Ser)
c.5474A>C (p.Tyr1825Ser)
c.5174A>C (p.Tyr1725Ser)
c.2438A>C (p.Tyr813Ser)
c.1331A>C (p.Tyr444Ser)
c.5357A>C (p.Tyr1786Ser)
c.1109A>C (p.Tyr370Ser)
c.4337A>C (p.Tyr1446Ser)
n.5513A>C
8g.99642067A>GCA371872638VPS13Bc.5552A>G (p.Tyr1851Cys)
n.5622A>G
c.*1234A>G (n.*1234A>G)
c.5477A>G (p.Tyr1826Cys)
c.5549A>G (p.Tyr1850Cys)
c.5474A>G (p.Tyr1825Cys)
c.5174A>G (p.Tyr1725Cys)
c.2438A>G (p.Tyr813Cys)
c.1331A>G (p.Tyr444Cys)
c.5357A>G (p.Tyr1786Cys)
c.1109A>G (p.Tyr370Cys)
c.4337A>G (p.Tyr1446Cys)
n.5513A>G
 dbSNP gnomAD v4
8g.99642067A>TCA371872639VPS13Bc.5552A>T (p.Tyr1851Phe)
n.5622A>T
c.*1234A>T (n.*1234A>T)
c.5477A>T (p.Tyr1826Phe)
c.5549A>T (p.Tyr1850Phe)
c.5474A>T (p.Tyr1825Phe)
c.5174A>T (p.Tyr1725Phe)
c.2438A>T (p.Tyr813Phe)
c.1331A>T (p.Tyr444Phe)
c.5357A>T (p.Tyr1786Phe)
c.1109A>T (p.Tyr370Phe)
c.4337A>T (p.Tyr1446Phe)
n.5513A>T
8g.99642068T>ACA371872640VPS13Bc.5553T>A (p.Tyr1851Ter)
n.5623T>A
c.*1235T>A (n.*1235T>A)
c.5478T>A (p.Tyr1826Ter)
c.5550T>A (p.Tyr1850Ter)
c.5475T>A (p.Tyr1825Ter)
c.5175T>A (p.Tyr1725Ter)
c.2439T>A (p.Tyr813Ter)
c.1332T>A (p.Tyr444Ter)
c.5358T>A (p.Tyr1786Ter)
c.1110T>A (p.Tyr370Ter)
c.4338T>A (p.Tyr1446Ter)
n.5514T>A
8g.99642068T>CCA462464301VPS13Bc.5553T>C (p.Tyr1851=)
n.5623T>C
c.*1235T>C (n.*1235T>C)
c.5478T>C (p.Tyr1826=)
c.5550T>C (p.Tyr1850=)
c.5475T>C (p.Tyr1825=)
c.5175T>C (p.Tyr1725=)
c.2439T>C (p.Tyr813=)
c.1332T>C (p.Tyr444=)
c.5358T>C (p.Tyr1786=)
c.1110T>C (p.Tyr370=)
c.4338T>C (p.Tyr1446=)
n.5514T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99642068T>GCA371872641VPS13Bc.5553T>G (p.Tyr1851Ter)
n.5623T>G
c.*1235T>G (n.*1235T>G)
c.5478T>G (p.Tyr1826Ter)
c.5550T>G (p.Tyr1850Ter)
c.5475T>G (p.Tyr1825Ter)
c.5175T>G (p.Tyr1725Ter)
c.2439T>G (p.Tyr813Ter)
c.1332T>G (p.Tyr444Ter)
c.5358T>G (p.Tyr1786Ter)
c.1110T>G (p.Tyr370Ter)
c.4338T>G (p.Tyr1446Ter)
n.5514T>G
8g.99642068T=CA1805821095VPS13Bc.5553T= (p.Tyr1851=)
n.5623T=
c.*1235T= (n.*1235T=)
c.5478T= (p.Tyr1826=)
c.5550T= (p.Tyr1850=)
c.5475T= (p.Tyr1825=)
c.5175T= (p.Tyr1725=)
c.2439T= (p.Tyr813=)
c.1332T= (p.Tyr444=)
c.5358T= (p.Tyr1786=)
c.1110T= (p.Tyr370=)
c.4338T= (p.Tyr1446=)
n.5514T=
8g.99642069T>ACA371872644VPS13Bc.5554T>A (p.Ser1852Thr)
n.5624T>A
c.*1236T>A (n.*1236T>A)
c.5479T>A (p.Ser1827Thr)
c.5551T>A (p.Ser1851Thr)
c.5476T>A (p.Ser1826Thr)
c.5176T>A (p.Ser1726Thr)
c.2440T>A (p.Ser814Thr)
c.1333T>A (p.Ser445Thr)
c.5359T>A (p.Ser1787Thr)
c.1111T>A (p.Ser371Thr)
c.4339T>A (p.Ser1447Thr)
n.5515T>A
8g.99642069T>CCA371872643VPS13Bc.5554T>C (p.Ser1852Pro)
n.5624T>C
c.*1236T>C (n.*1236T>C)
c.5479T>C (p.Ser1827Pro)
c.5551T>C (p.Ser1851Pro)
c.5476T>C (p.Ser1826Pro)
c.5176T>C (p.Ser1726Pro)
c.2440T>C (p.Ser814Pro)
c.1333T>C (p.Ser445Pro)
c.5359T>C (p.Ser1787Pro)
c.1111T>C (p.Ser371Pro)
c.4339T>C (p.Ser1447Pro)
n.5515T>C
8g.99642069T>GCA371872642VPS13Bc.5554T>G (p.Ser1852Ala)
n.5624T>G
c.*1236T>G (n.*1236T>G)
c.5479T>G (p.Ser1827Ala)
c.5551T>G (p.Ser1851Ala)
c.5476T>G (p.Ser1826Ala)
c.5176T>G (p.Ser1726Ala)
c.2440T>G (p.Ser814Ala)
c.1333T>G (p.Ser445Ala)
c.5359T>G (p.Ser1787Ala)
c.1111T>G (p.Ser371Ala)
c.4339T>G (p.Ser1447Ala)
n.5515T>G
8g.99642070C>ACA371872645VPS13Bc.5555C>A (p.Ser1852Tyr)
n.5625C>A
c.*1237C>A (n.*1237C>A)
c.5480C>A (p.Ser1827Tyr)
c.5552C>A (p.Ser1851Tyr)
c.5477C>A (p.Ser1826Tyr)
c.5177C>A (p.Ser1726Tyr)
c.2441C>A (p.Ser814Tyr)
c.1334C>A (p.Ser445Tyr)
c.5360C>A (p.Ser1787Tyr)
c.1112C>A (p.Ser371Tyr)
c.4340C>A (p.Ser1447Tyr)
n.5516C>A
8g.99642070C=CA1805821101VPS13Bc.5555C= (p.Ser1852=)
n.5625C=
c.*1237C= (n.*1237C=)
c.5480C= (p.Ser1827=)
c.5552C= (p.Ser1851=)
c.5477C= (p.Ser1826=)
c.5177C= (p.Ser1726=)
c.2441C= (p.Ser814=)
c.1334C= (p.Ser445=)
c.5360C= (p.Ser1787=)
c.1112C= (p.Ser371=)
c.4340C= (p.Ser1447=)
n.5516C=
8g.99642070C>GCA371872646VPS13Bc.5555C>G (p.Ser1852Cys)
n.5625C>G
c.*1237C>G (n.*1237C>G)
c.5480C>G (p.Ser1827Cys)
c.5552C>G (p.Ser1851Cys)
c.5477C>G (p.Ser1826Cys)
c.5177C>G (p.Ser1726Cys)
c.2441C>G (p.Ser814Cys)
c.1334C>G (p.Ser445Cys)
c.5360C>G (p.Ser1787Cys)
c.1112C>G (p.Ser371Cys)
c.4340C>G (p.Ser1447Cys)
n.5516C>G
8g.99642070C>TCA371872647VPS13Bc.5555C>T (p.Ser1852Phe)
n.5625C>T
c.*1237C>T (n.*1237C>T)
c.5480C>T (p.Ser1827Phe)
c.5552C>T (p.Ser1851Phe)
c.5477C>T (p.Ser1826Phe)
c.5177C>T (p.Ser1726Phe)
c.2441C>T (p.Ser814Phe)
c.1334C>T (p.Ser445Phe)
c.5360C>T (p.Ser1787Phe)
c.1112C>T (p.Ser371Phe)
c.4340C>T (p.Ser1447Phe)
n.5516C>T
8g.99642071C>ACA462464306VPS13Bc.5556C>A (p.Ser1852=)
n.5626C>A
c.*1238C>A (n.*1238C>A)
c.5481C>A (p.Ser1827=)
c.5553C>A (p.Ser1851=)
c.5478C>A (p.Ser1826=)
c.5178C>A (p.Ser1726=)
c.2442C>A (p.Ser814=)
c.1335C>A (p.Ser445=)
c.5361C>A (p.Ser1787=)
c.1113C>A (p.Ser371=)
c.4341C>A (p.Ser1447=)
n.5517C>A
8g.99642071C>GCA462464307VPS13Bc.5556C>G (p.Ser1852=)
n.5626C>G
c.*1238C>G (n.*1238C>G)
c.5481C>G (p.Ser1827=)
c.5553C>G (p.Ser1851=)
c.5478C>G (p.Ser1826=)
c.5178C>G (p.Ser1726=)
c.2442C>G (p.Ser814=)
c.1335C>G (p.Ser445=)
c.5361C>G (p.Ser1787=)
c.1113C>G (p.Ser371=)
c.4341C>G (p.Ser1447=)
n.5517C>G
8g.99642071C>TCA462464308VPS13Bc.5556C>T (p.Ser1852=)
n.5626C>T
c.*1238C>T (n.*1238C>T)
c.5481C>T (p.Ser1827=)
c.5553C>T (p.Ser1851=)
c.5478C>T (p.Ser1826=)
c.5178C>T (p.Ser1726=)
c.2442C>T (p.Ser814=)
c.1335C>T (p.Ser445=)
c.5361C>T (p.Ser1787=)
c.1113C>T (p.Ser371=)
c.4341C>T (p.Ser1447=)
n.5517C>T
8g.99642073_99642074insAGCACCACTGCA1805821106VPS13Bc.5558_5559insAGCACCACTG (p.Cys1853Ter)
n.5628_5629insAGCACCACTG
c.*1240_*1241insAGCACCACTG (n.*1240_*1241insAGCACCACTG)
c.5483_5484insAGCACCACTG (p.Cys1828Ter)
c.5555_5556insAGCACCACTG (p.Cys1852Ter)
c.5480_5481insAGCACCACTG (p.Cys1827Ter)
c.5180_5181insAGCACCACTG (p.Cys1727Ter)
c.2444_2445insAGCACCACTG (p.Cys815Ter)
c.1337_1338insAGCACCACTG (p.Cys446Ter)
c.5363_5364insAGCACCACTG (p.Cys1788Ter)
c.1115_1116insAGCACCACTG (p.Cys372Ter)
c.4343_4344insAGCACCACTG (p.Cys1448Ter)
n.5519_5520insAGCACCACTG
 dbSNP
8g.99642072T>ACA371872648VPS13Bc.5557T>A (p.Cys1853Ser)
n.5627T>A
c.*1239T>A (n.*1239T>A)
c.5482T>A (p.Cys1828Ser)
c.5554T>A (p.Cys1852Ser)
c.5479T>A (p.Cys1827Ser)
c.5179T>A (p.Cys1727Ser)
c.2443T>A (p.Cys815Ser)
c.1336T>A (p.Cys446Ser)
c.5362T>A (p.Cys1788Ser)
c.1114T>A (p.Cys372Ser)
c.4342T>A (p.Cys1448Ser)
n.5518T>A
8g.99642072T>CCA371872649VPS13Bc.5557T>C (p.Cys1853Arg)
n.5627T>C
c.*1239T>C (n.*1239T>C)
c.5482T>C (p.Cys1828Arg)
c.5554T>C (p.Cys1852Arg)
c.5479T>C (p.Cys1827Arg)
c.5179T>C (p.Cys1727Arg)
c.2443T>C (p.Cys815Arg)
c.1336T>C (p.Cys446Arg)
c.5362T>C (p.Cys1788Arg)
c.1114T>C (p.Cys372Arg)
c.4342T>C (p.Cys1448Arg)
n.5518T>C
 dbSNP
8g.99642072T>GCA371872650VPS13Bc.5557T>G (p.Cys1853Gly)
n.5627T>G
c.*1239T>G (n.*1239T>G)
c.5482T>G (p.Cys1828Gly)
c.5554T>G (p.Cys1852Gly)
c.5479T>G (p.Cys1827Gly)
c.5179T>G (p.Cys1727Gly)
c.2443T>G (p.Cys815Gly)
c.1336T>G (p.Cys446Gly)
c.5362T>G (p.Cys1788Gly)
c.1114T>G (p.Cys372Gly)
c.4342T>G (p.Cys1448Gly)
n.5518T>G
8g.99642072T=CA1805821110VPS13Bc.5557T= (p.Cys1853=)
n.5627T=
c.*1239T= (n.*1239T=)
c.5482T= (p.Cys1828=)
c.5554T= (p.Cys1852=)
c.5479T= (p.Cys1827=)
c.5179T= (p.Cys1727=)
c.2443T= (p.Cys815=)
c.1336T= (p.Cys446=)
c.5362T= (p.Cys1788=)
c.1114T= (p.Cys372=)
c.4342T= (p.Cys1448=)
n.5518T=
8g.99642073G>ACA371872653VPS13Bc.5558G>A (p.Cys1853Tyr)
n.5628G>A
c.*1240G>A (n.*1240G>A)
c.5483G>A (p.Cys1828Tyr)
c.5555G>A (p.Cys1852Tyr)
c.5480G>A (p.Cys1827Tyr)
c.5180G>A (p.Cys1727Tyr)
c.2444G>A (p.Cys815Tyr)
c.1337G>A (p.Cys446Tyr)
c.5363G>A (p.Cys1788Tyr)
c.1115G>A (p.Cys372Tyr)
c.4343G>A (p.Cys1448Tyr)
n.5519G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.99642073G>CCA371872651VPS13Bc.5558G>C (p.Cys1853Ser)
n.5628G>C
c.*1240G>C (n.*1240G>C)
c.5483G>C (p.Cys1828Ser)
c.5555G>C (p.Cys1852Ser)
c.5480G>C (p.Cys1827Ser)
c.5180G>C (p.Cys1727Ser)
c.2444G>C (p.Cys815Ser)
c.1337G>C (p.Cys446Ser)
c.5363G>C (p.Cys1788Ser)
c.1115G>C (p.Cys372Ser)
c.4343G>C (p.Cys1448Ser)
n.5519G>C
8g.99642073G>TCA371872652VPS13Bc.5558G>T (p.Cys1853Phe)
n.5628G>T
c.*1240G>T (n.*1240G>T)
c.5483G>T (p.Cys1828Phe)
c.5555G>T (p.Cys1852Phe)
c.5480G>T (p.Cys1827Phe)
c.5180G>T (p.Cys1727Phe)
c.2444G>T (p.Cys815Phe)
c.1337G>T (p.Cys446Phe)
c.5363G>T (p.Cys1788Phe)
c.1115G>T (p.Cys372Phe)
c.4343G>T (p.Cys1448Phe)
n.5519G>T
 gnomAD v4 COSMIC COSMIC
8g.99642074T>ACA371872654VPS13Bc.5559T>A (p.Cys1853Ter)
n.5629T>A
c.*1241T>A (n.*1241T>A)
c.5484T>A (p.Cys1828Ter)
c.5556T>A (p.Cys1852Ter)
c.5481T>A (p.Cys1827Ter)
c.5181T>A (p.Cys1727Ter)
c.2445T>A (p.Cys815Ter)
c.1338T>A (p.Cys446Ter)
c.5364T>A (p.Cys1788Ter)
c.1116T>A (p.Cys372Ter)
c.4344T>A (p.Cys1448Ter)
n.5520T>A
8g.99642074T>CCA462464312VPS13Bc.5559T>C (p.Cys1853=)
n.5629T>C
c.*1241T>C (n.*1241T>C)
c.5484T>C (p.Cys1828=)
c.5556T>C (p.Cys1852=)
c.5481T>C (p.Cys1827=)
c.5181T>C (p.Cys1727=)
c.2445T>C (p.Cys815=)
c.1338T>C (p.Cys446=)
c.5364T>C (p.Cys1788=)
c.1116T>C (p.Cys372=)
c.4344T>C (p.Cys1448=)
n.5520T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99642074T>GCA371872655VPS13Bc.5559T>G (p.Cys1853Trp)
n.5629T>G
c.*1241T>G (n.*1241T>G)
c.5484T>G (p.Cys1828Trp)
c.5556T>G (p.Cys1852Trp)
c.5481T>G (p.Cys1827Trp)
c.5181T>G (p.Cys1727Trp)
c.2445T>G (p.Cys815Trp)
c.1338T>G (p.Cys446Trp)
c.5364T>G (p.Cys1788Trp)
c.1116T>G (p.Cys372Trp)
c.4344T>G (p.Cys1448Trp)
n.5520T>G
8g.99642074T=CA1805821115VPS13Bc.5559T= (p.Cys1853=)
n.5629T=
c.*1241T= (n.*1241T=)
c.5484T= (p.Cys1828=)
c.5556T= (p.Cys1852=)
c.5481T= (p.Cys1827=)
c.5181T= (p.Cys1727=)
c.2445T= (p.Cys815=)
c.1338T= (p.Cys446=)
c.5364T= (p.Cys1788=)
c.1116T= (p.Cys372=)
c.4344T= (p.Cys1448=)
n.5520T=
8g.99642075A>CCA371872656VPS13Bc.5560A>C (p.Met1854Leu)
n.5630A>C
c.*1242A>C (n.*1242A>C)
c.5485A>C (p.Met1829Leu)
c.5557A>C (p.Met1853Leu)
c.5482A>C (p.Met1828Leu)
c.5182A>C (p.Met1728Leu)
c.2446A>C (p.Met816Leu)
c.1339A>C (p.Met447Leu)
c.5365A>C (p.Met1789Leu)
c.1117A>C (p.Met373Leu)
c.4345A>C (p.Met1449Leu)
n.5521A>C
8g.99642075A>GCA371872657VPS13Bc.5560A>G (p.Met1854Val)
n.5630A>G
c.*1242A>G (n.*1242A>G)
c.5485A>G (p.Met1829Val)
c.5557A>G (p.Met1853Val)
c.5482A>G (p.Met1828Val)
c.5182A>G (p.Met1728Val)
c.2446A>G (p.Met816Val)
c.1339A>G (p.Met447Val)
c.5365A>G (p.Met1789Val)
c.1117A>G (p.Met373Val)
c.4345A>G (p.Met1449Val)
n.5521A>G
8g.99642075A>TCA371872658VPS13Bc.5560A>T (p.Met1854Leu)
n.5630A>T
c.*1242A>T (n.*1242A>T)
c.5485A>T (p.Met1829Leu)
c.5557A>T (p.Met1853Leu)
c.5482A>T (p.Met1828Leu)
c.5182A>T (p.Met1728Leu)
c.2446A>T (p.Met816Leu)
c.1339A>T (p.Met447Leu)
c.5365A>T (p.Met1789Leu)
c.1117A>T (p.Met373Leu)
c.4345A>T (p.Met1449Leu)
n.5521A>T
8g.99642075_99642077delinsATGCA1805821119VPS13Bc.5560_5562delinsATG (p.Met1854=)
n.5630_5632delinsATG
c.*1242_*1244delinsATG (n.*1242_*1244delinsATG)
c.5485_5487delinsATG (p.Met1829=)
c.5557_5559delinsATG (p.Met1853=)
c.5482_5484delinsATG (p.Met1828=)
c.5182_5184delinsATG (p.Met1728=)
c.2446_2448delinsATG (p.Met816=)
c.1339_1341delinsATG (p.Met447=)
c.5365_5367delinsATG (p.Met1789=)
c.1117_1119delinsATG (p.Met373=)
c.4345_4347delinsATG (p.Met1449=)
n.5521_5523delinsATG
8g.99642076T>ACA371872659VPS13Bc.5561T>A (p.Met1854Lys)
n.5631T>A
c.*1243T>A (n.*1243T>A)
c.5486T>A (p.Met1829Lys)
c.5558T>A (p.Met1853Lys)
c.5483T>A (p.Met1828Lys)
c.5183T>A (p.Met1728Lys)
c.2447T>A (p.Met816Lys)
c.1340T>A (p.Met447Lys)
c.5366T>A (p.Met1789Lys)
c.1118T>A (p.Met373Lys)
c.4346T>A (p.Met1449Lys)
n.5522T>A
 ClinVar dbSNP
8g.99642076T>CCA4823828VPS13Bc.5561T>C (p.Met1854Thr)
n.5631T>C
c.*1243T>C (n.*1243T>C)
c.5486T>C (p.Met1829Thr)
c.5558T>C (p.Met1853Thr)
c.5483T>C (p.Met1828Thr)
c.5183T>C (p.Met1728Thr)
c.2447T>C (p.Met816Thr)
c.1340T>C (p.Met447Thr)
c.5366T>C (p.Met1789Thr)
c.1118T>C (p.Met373Thr)
c.4346T>C (p.Met1449Thr)
n.5522T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642076T>GCA371872660VPS13Bc.5561T>G (p.Met1854Arg)
n.5631T>G
c.*1243T>G (n.*1243T>G)
c.5486T>G (p.Met1829Arg)
c.5558T>G (p.Met1853Arg)
c.5483T>G (p.Met1828Arg)
c.5183T>G (p.Met1728Arg)
c.2447T>G (p.Met816Arg)
c.1340T>G (p.Met447Arg)
c.5366T>G (p.Met1789Arg)
c.1118T>G (p.Met373Arg)
c.4346T>G (p.Met1449Arg)
n.5522T>G
8g.99642076T=CA1805821126VPS13Bc.5561T= (p.Met1854=)
n.5631T=
c.*1243T= (n.*1243T=)
c.5486T= (p.Met1829=)
c.5558T= (p.Met1853=)
c.5483T= (p.Met1828=)
c.5183T= (p.Met1728=)
c.2447T= (p.Met816=)
c.1340T= (p.Met447=)
c.5366T= (p.Met1789=)
c.1118T= (p.Met373=)
c.4346T= (p.Met1449=)
n.5522T=
8g.99642076_99642077delCA1805821130VPS13Bc.5561_5562del (p.Met1854SerfsTer13)
n.5631_5632del
c.*1243_*1244del (n.*1243_*1244del)
c.5486_5487del (p.Met1829SerfsTer13)
c.5558_5559del (p.Met1853SerfsTer13)
c.5483_5484del (p.Met1828SerfsTer13)
c.5183_5184del (p.Met1728SerfsTer13)
c.2447_2448del (p.Met816SerfsTer13)
c.1340_1341del (p.Met447SerfsTer13)
c.5366_5367del (p.Met1789SerfsTer13)
c.1118_1119del (p.Met373SerfsTer13)
c.4346_4347del (p.Met1449SerfsTer13)
n.5522_5523del
 dbSNP
8g.99642077G>ACA4823829VPS13Bc.5562G>A (p.Met1854Ile)
n.5632G>A
c.*1244G>A (n.*1244G>A)
c.5487G>A (p.Met1829Ile)
c.5559G>A (p.Met1853Ile)
c.5484G>A (p.Met1828Ile)
c.5184G>A (p.Met1728Ile)
c.2448G>A (p.Met816Ile)
c.1341G>A (p.Met447Ile)
c.5367G>A (p.Met1789Ile)
c.1119G>A (p.Met373Ile)
c.4347G>A (p.Met1449Ile)
n.5523G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642077G>CCA371872661VPS13Bc.5562G>C (p.Met1854Ile)
n.5632G>C
c.*1244G>C (n.*1244G>C)
c.5487G>C (p.Met1829Ile)
c.5559G>C (p.Met1853Ile)
c.5484G>C (p.Met1828Ile)
c.5184G>C (p.Met1728Ile)
c.2448G>C (p.Met816Ile)
c.1341G>C (p.Met447Ile)
c.5367G>C (p.Met1789Ile)
c.1119G>C (p.Met373Ile)
c.4347G>C (p.Met1449Ile)
n.5523G>C
8g.99642077G=CA1805821135VPS13Bc.5562G= (p.Met1854=)
n.5632G=
c.*1244G= (n.*1244G=)
c.5487G= (p.Met1829=)
c.5559G= (p.Met1853=)
c.5484G= (p.Met1828=)
c.5184G= (p.Met1728=)
c.2448G= (p.Met816=)
c.1341G= (p.Met447=)
c.5367G= (p.Met1789=)
c.1119G= (p.Met373=)
c.4347G= (p.Met1449=)
n.5523G=
8g.99642077G>TCA371872662VPS13Bc.5562G>T (p.Met1854Ile)
n.5632G>T
c.*1244G>T (n.*1244G>T)
c.5487G>T (p.Met1829Ile)
c.5559G>T (p.Met1853Ile)
c.5484G>T (p.Met1828Ile)
c.5184G>T (p.Met1728Ile)
c.2448G>T (p.Met816Ile)
c.1341G>T (p.Met447Ile)
c.5367G>T (p.Met1789Ile)
c.1119G>T (p.Met373Ile)
c.4347G>T (p.Met1449Ile)
n.5523G>T
8g.99642078G>ACA371872663VPS13Bc.5563G>A (p.Ala1855Thr)
n.5633G>A
c.*1245G>A (n.*1245G>A)
c.5488G>A (p.Ala1830Thr)
c.5560G>A (p.Ala1854Thr)
c.5485G>A (p.Ala1829Thr)
c.5185G>A (p.Ala1729Thr)
c.2449G>A (p.Ala817Thr)
c.1342G>A (p.Ala448Thr)
c.5368G>A (p.Ala1790Thr)
c.1120G>A (p.Ala374Thr)
c.4348G>A (p.Ala1450Thr)
n.5524G>A
 dbSNP gnomAD v2 gnomAD v4
8g.99642078G>CCA371872664VPS13Bc.5563G>C (p.Ala1855Pro)
n.5633G>C
c.*1245G>C (n.*1245G>C)
c.5488G>C (p.Ala1830Pro)
c.5560G>C (p.Ala1854Pro)
c.5485G>C (p.Ala1829Pro)
c.5185G>C (p.Ala1729Pro)
c.2449G>C (p.Ala817Pro)
c.1342G>C (p.Ala448Pro)
c.5368G>C (p.Ala1790Pro)
c.1120G>C (p.Ala374Pro)
c.4348G>C (p.Ala1450Pro)
n.5524G>C
8g.99642078G=CA1805821143VPS13Bc.5563G= (p.Ala1855=)
n.5633G=
c.*1245G= (n.*1245G=)
c.5488G= (p.Ala1830=)
c.5560G= (p.Ala1854=)
c.5485G= (p.Ala1829=)
c.5185G= (p.Ala1729=)
c.2449G= (p.Ala817=)
c.1342G= (p.Ala448=)
c.5368G= (p.Ala1790=)
c.1120G= (p.Ala374=)
c.4348G= (p.Ala1450=)
n.5524G=
8g.99642078G>TCA371872665VPS13Bc.5563G>T (p.Ala1855Ser)
n.5633G>T
c.*1245G>T (n.*1245G>T)
c.5488G>T (p.Ala1830Ser)
c.5560G>T (p.Ala1854Ser)
c.5485G>T (p.Ala1829Ser)
c.5185G>T (p.Ala1729Ser)
c.2449G>T (p.Ala817Ser)
c.1342G>T (p.Ala448Ser)
c.5368G>T (p.Ala1790Ser)
c.1120G>T (p.Ala374Ser)
c.4348G>T (p.Ala1450Ser)
n.5524G>T
8g.99642079C>ACA371872666VPS13Bc.5564C>A (p.Ala1855Asp)
n.5634C>A
c.*1246C>A (n.*1246C>A)
c.5489C>A (p.Ala1830Asp)
c.5561C>A (p.Ala1854Asp)
c.5486C>A (p.Ala1829Asp)
c.5186C>A (p.Ala1729Asp)
c.2450C>A (p.Ala817Asp)
c.1343C>A (p.Ala448Asp)
c.5369C>A (p.Ala1790Asp)
c.1121C>A (p.Ala374Asp)
c.4349C>A (p.Ala1450Asp)
n.5525C>A
8g.99642079C=CA1805821152VPS13Bc.5564C= (p.Ala1855=)
n.5634C=
c.*1246C= (n.*1246C=)
c.5489C= (p.Ala1830=)
c.5561C= (p.Ala1854=)
c.5486C= (p.Ala1829=)
c.5186C= (p.Ala1729=)
c.2450C= (p.Ala817=)
c.1343C= (p.Ala448=)
c.5369C= (p.Ala1790=)
c.1121C= (p.Ala374=)
c.4349C= (p.Ala1450=)
n.5525C=
8g.99642079C>GCA371872667VPS13Bc.5564C>G (p.Ala1855Gly)
n.5634C>G
c.*1246C>G (n.*1246C>G)
c.5489C>G (p.Ala1830Gly)
c.5561C>G (p.Ala1854Gly)
c.5486C>G (p.Ala1829Gly)
c.5186C>G (p.Ala1729Gly)
c.2450C>G (p.Ala817Gly)
c.1343C>G (p.Ala448Gly)
c.5369C>G (p.Ala1790Gly)
c.1121C>G (p.Ala374Gly)
c.4349C>G (p.Ala1450Gly)
n.5525C>G
 ClinVar dbSNP gnomAD v4
8g.99642079C>TCA371872668VPS13Bc.5564C>T (p.Ala1855Val)
n.5634C>T
c.*1246C>T (n.*1246C>T)
c.5489C>T (p.Ala1830Val)
c.5561C>T (p.Ala1854Val)
c.5486C>T (p.Ala1829Val)
c.5186C>T (p.Ala1729Val)
c.2450C>T (p.Ala817Val)
c.1343C>T (p.Ala448Val)
c.5369C>T (p.Ala1790Val)
c.1121C>T (p.Ala374Val)
c.4349C>T (p.Ala1450Val)
n.5525C>T
 ClinVar gnomAD v4
8g.99642080C>ACA462464318VPS13Bc.5565C>A (p.Ala1855=)
n.5635C>A
c.*1247C>A (n.*1247C>A)
c.5490C>A (p.Ala1830=)
c.5562C>A (p.Ala1854=)
c.5487C>A (p.Ala1829=)
c.5187C>A (p.Ala1729=)
c.2451C>A (p.Ala817=)
c.1344C>A (p.Ala448=)
c.5370C>A (p.Ala1790=)
c.1122C>A (p.Ala374=)
c.4350C>A (p.Ala1450=)
n.5526C>A
8g.99642080C=CA1805821157VPS13Bc.5565C= (p.Ala1855=)
n.5635C=
c.*1247C= (n.*1247C=)
c.5490C= (p.Ala1830=)
c.5562C= (p.Ala1854=)
c.5487C= (p.Ala1829=)
c.5187C= (p.Ala1729=)
c.2451C= (p.Ala817=)
c.1344C= (p.Ala448=)
c.5370C= (p.Ala1790=)
c.1122C= (p.Ala374=)
c.4350C= (p.Ala1450=)
n.5526C=
8g.99642080C>GCA462464320VPS13Bc.5565C>G (p.Ala1855=)
n.5635C>G
c.*1247C>G (n.*1247C>G)
c.5490C>G (p.Ala1830=)
c.5562C>G (p.Ala1854=)
c.5487C>G (p.Ala1829=)
c.5187C>G (p.Ala1729=)
c.2451C>G (p.Ala817=)
c.1344C>G (p.Ala448=)
c.5370C>G (p.Ala1790=)
c.1122C>G (p.Ala374=)
c.4350C>G (p.Ala1450=)
n.5526C>G
 ClinVar dbSNP gnomAD v4
8g.99642080C>TCA462464322VPS13Bc.5565C>T (p.Ala1855=)
n.5635C>T
c.*1247C>T (n.*1247C>T)
c.5490C>T (p.Ala1830=)
c.5562C>T (p.Ala1854=)
c.5487C>T (p.Ala1829=)
c.5187C>T (p.Ala1729=)
c.2451C>T (p.Ala817=)
c.1344C>T (p.Ala448=)
c.5370C>T (p.Ala1790=)
c.1122C>T (p.Ala374=)
c.4350C>T (p.Ala1450=)
n.5526C>T
8g.99642081T>ACA371872669VPS13Bc.5566T>A (p.Leu1856Ile)
n.5636T>A
c.*1248T>A (n.*1248T>A)
c.5491T>A (p.Leu1831Ile)
c.5563T>A (p.Leu1855Ile)
c.5488T>A (p.Leu1830Ile)
c.5188T>A (p.Leu1730Ile)
c.2452T>A (p.Leu818Ile)
c.1345T>A (p.Leu449Ile)
c.5371T>A (p.Leu1791Ile)
c.1123T>A (p.Leu375Ile)
c.4351T>A (p.Leu1451Ile)
n.5527T>A
8g.99642081T>CCA462464325VPS13Bc.5566T>C (p.Leu1856=)
n.5636T>C
c.*1248T>C (n.*1248T>C)
c.5491T>C (p.Leu1831=)
c.5563T>C (p.Leu1855=)
c.5488T>C (p.Leu1830=)
c.5188T>C (p.Leu1730=)
c.2452T>C (p.Leu818=)
c.1345T>C (p.Leu449=)
c.5371T>C (p.Leu1791=)
c.1123T>C (p.Leu375=)
c.4351T>C (p.Leu1451=)
n.5527T>C
8g.99642081T>GCA371872670VPS13Bc.5566T>G (p.Leu1856Val)
n.5636T>G
c.*1248T>G (n.*1248T>G)
c.5491T>G (p.Leu1831Val)
c.5563T>G (p.Leu1855Val)
c.5488T>G (p.Leu1830Val)
c.5188T>G (p.Leu1730Val)
c.2452T>G (p.Leu818Val)
c.1345T>G (p.Leu449Val)
c.5371T>G (p.Leu1791Val)
c.1123T>G (p.Leu375Val)
c.4351T>G (p.Leu1451Val)
n.5527T>G
 dbSNP
8g.99642081T=CA1805821167VPS13Bc.5566T= (p.Leu1856=)
n.5636T=
c.*1248T= (n.*1248T=)
c.5491T= (p.Leu1831=)
c.5563T= (p.Leu1855=)
c.5488T= (p.Leu1830=)
c.5188T= (p.Leu1730=)
c.2452T= (p.Leu818=)
c.1345T= (p.Leu449=)
c.5371T= (p.Leu1791=)
c.1123T= (p.Leu375=)
c.4351T= (p.Leu1451=)
n.5527T=
8g.99642082T>ACA371872671VPS13Bc.5567T>A (p.Leu1856Ter)
n.5637T>A
c.*1249T>A (n.*1249T>A)
c.5492T>A (p.Leu1831Ter)
c.5564T>A (p.Leu1855Ter)
c.5489T>A (p.Leu1830Ter)
c.5189T>A (p.Leu1730Ter)
c.2453T>A (p.Leu818Ter)
c.1346T>A (p.Leu449Ter)
c.5372T>A (p.Leu1791Ter)
c.1124T>A (p.Leu375Ter)
c.4352T>A (p.Leu1451Ter)
n.5528T>A
8g.99642082T>CCA371872673VPS13Bc.5567T>C (p.Leu1856Ser)
n.5637T>C
c.*1249T>C (n.*1249T>C)
c.5492T>C (p.Leu1831Ser)
c.5564T>C (p.Leu1855Ser)
c.5489T>C (p.Leu1830Ser)
c.5189T>C (p.Leu1730Ser)
c.2453T>C (p.Leu818Ser)
c.1346T>C (p.Leu449Ser)
c.5372T>C (p.Leu1791Ser)
c.1124T>C (p.Leu375Ser)
c.4352T>C (p.Leu1451Ser)
n.5528T>C
8g.99642082T>GCA371872672VPS13Bc.5567T>G (p.Leu1856Ter)
n.5637T>G
c.*1249T>G (n.*1249T>G)
c.5492T>G (p.Leu1831Ter)
c.5564T>G (p.Leu1855Ter)
c.5489T>G (p.Leu1830Ter)
c.5189T>G (p.Leu1730Ter)
c.2453T>G (p.Leu818Ter)
c.1346T>G (p.Leu449Ter)
c.5372T>G (p.Leu1791Ter)
c.1124T>G (p.Leu375Ter)
c.4352T>G (p.Leu1451Ter)
n.5528T>G
8g.99642083A>CCA371872674VPS13Bc.5568A>C (p.Leu1856Phe)
n.5638A>C
c.*1250A>C (n.*1250A>C)
c.5493A>C (p.Leu1831Phe)
c.5565A>C (p.Leu1855Phe)
c.5490A>C (p.Leu1830Phe)
c.5190A>C (p.Leu1730Phe)
c.2454A>C (p.Leu818Phe)
c.1347A>C (p.Leu449Phe)
c.5373A>C (p.Leu1791Phe)
c.1125A>C (p.Leu375Phe)
c.4353A>C (p.Leu1451Phe)
n.5529A>C
8g.99642083A>GCA462464330VPS13Bc.5568A>G (p.Leu1856=)
n.5638A>G
c.*1250A>G (n.*1250A>G)
c.5493A>G (p.Leu1831=)
c.5565A>G (p.Leu1855=)
c.5490A>G (p.Leu1830=)
c.5190A>G (p.Leu1730=)
c.2454A>G (p.Leu818=)
c.1347A>G (p.Leu449=)
c.5373A>G (p.Leu1791=)
c.1125A>G (p.Leu375=)
c.4353A>G (p.Leu1451=)
n.5529A>G
 gnomAD v4
8g.99642083A>TCA371872675VPS13Bc.5568A>T (p.Leu1856Phe)
n.5638A>T
c.*1250A>T (n.*1250A>T)
c.5493A>T (p.Leu1831Phe)
c.5565A>T (p.Leu1855Phe)
c.5490A>T (p.Leu1830Phe)
c.5190A>T (p.Leu1730Phe)
c.2454A>T (p.Leu818Phe)
c.1347A>T (p.Leu449Phe)
c.5373A>T (p.Leu1791Phe)
c.1125A>T (p.Leu375Phe)
c.4353A>T (p.Leu1451Phe)
n.5529A>T
8g.99642084T>ACA371872676VPS13Bc.5569T>A (p.Ser1857Thr)
n.5639T>A
c.*1251T>A (n.*1251T>A)
c.5494T>A (p.Ser1832Thr)
c.5566T>A (p.Ser1856Thr)
c.5491T>A (p.Ser1831Thr)
c.5191T>A (p.Ser1731Thr)
c.2455T>A (p.Ser819Thr)
c.1348T>A (p.Ser450Thr)
c.5374T>A (p.Ser1792Thr)
c.1126T>A (p.Ser376Thr)
c.4354T>A (p.Ser1452Thr)
n.5530T>A
8g.99642084T>CCA371872677VPS13Bc.5569T>C (p.Ser1857Pro)
n.5639T>C
c.*1251T>C (n.*1251T>C)
c.5494T>C (p.Ser1832Pro)
c.5566T>C (p.Ser1856Pro)
c.5491T>C (p.Ser1831Pro)
c.5191T>C (p.Ser1731Pro)
c.2455T>C (p.Ser819Pro)
c.1348T>C (p.Ser450Pro)
c.5374T>C (p.Ser1792Pro)
c.1126T>C (p.Ser376Pro)
c.4354T>C (p.Ser1452Pro)
n.5530T>C
8g.99642084T>GCA371872678VPS13Bc.5569T>G (p.Ser1857Ala)
n.5639T>G
c.*1251T>G (n.*1251T>G)
c.5494T>G (p.Ser1832Ala)
c.5566T>G (p.Ser1856Ala)
c.5491T>G (p.Ser1831Ala)
c.5191T>G (p.Ser1731Ala)
c.2455T>G (p.Ser819Ala)
c.1348T>G (p.Ser450Ala)
c.5374T>G (p.Ser1792Ala)
c.1126T>G (p.Ser376Ala)
c.4354T>G (p.Ser1452Ala)
n.5530T>G
8g.99642085C>ACA371872679VPS13Bc.5570C>A (p.Ser1857Tyr)
n.5640C>A
c.*1252C>A (n.*1252C>A)
c.5495C>A (p.Ser1832Tyr)
c.5567C>A (p.Ser1856Tyr)
c.5492C>A (p.Ser1831Tyr)
c.5192C>A (p.Ser1731Tyr)
c.2456C>A (p.Ser819Tyr)
c.1349C>A (p.Ser450Tyr)
c.5375C>A (p.Ser1792Tyr)
c.1127C>A (p.Ser376Tyr)
c.4355C>A (p.Ser1452Tyr)
n.5531C>A
 dbSNP gnomAD v4
8g.99642085C=CA1805821171VPS13Bc.5570C= (p.Ser1857=)
n.5640C=
c.*1252C= (n.*1252C=)
c.5495C= (p.Ser1832=)
c.5567C= (p.Ser1856=)
c.5492C= (p.Ser1831=)
c.5192C= (p.Ser1731=)
c.2456C= (p.Ser819=)
c.1349C= (p.Ser450=)
c.5375C= (p.Ser1792=)
c.1127C= (p.Ser376=)
c.4355C= (p.Ser1452=)
n.5531C=
8g.99642085C>GCA4823830VPS13Bc.5570C>G (p.Ser1857Cys)
n.5640C>G
c.*1252C>G (n.*1252C>G)
c.5495C>G (p.Ser1832Cys)
c.5567C>G (p.Ser1856Cys)
c.5492C>G (p.Ser1831Cys)
c.5192C>G (p.Ser1731Cys)
c.2456C>G (p.Ser819Cys)
c.1349C>G (p.Ser450Cys)
c.5375C>G (p.Ser1792Cys)
c.1127C>G (p.Ser376Cys)
c.4355C>G (p.Ser1452Cys)
n.5531C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642085C>TCA371872680VPS13Bc.5570C>T (p.Ser1857Phe)
n.5640C>T
c.*1252C>T (n.*1252C>T)
c.5495C>T (p.Ser1832Phe)
c.5567C>T (p.Ser1856Phe)
c.5492C>T (p.Ser1831Phe)
c.5192C>T (p.Ser1731Phe)
c.2456C>T (p.Ser819Phe)
c.1349C>T (p.Ser450Phe)
c.5375C>T (p.Ser1792Phe)
c.1127C>T (p.Ser376Phe)
c.4355C>T (p.Ser1452Phe)
n.5531C>T
 COSMIC COSMIC
8g.99642086C>ACA462464332VPS13Bc.5571C>A (p.Ser1857=)
n.5641C>A
c.*1253C>A (n.*1253C>A)
c.5496C>A (p.Ser1832=)
c.5568C>A (p.Ser1856=)
c.5493C>A (p.Ser1831=)
c.5193C>A (p.Ser1731=)
c.2457C>A (p.Ser819=)
c.1350C>A (p.Ser450=)
c.5376C>A (p.Ser1792=)
c.1128C>A (p.Ser376=)
c.4356C>A (p.Ser1452=)
n.5532C>A
 ClinVar gnomAD v4
8g.99642086C>GCA462464333VPS13Bc.5571C>G (p.Ser1857=)
n.5641C>G
c.*1253C>G (n.*1253C>G)
c.5496C>G (p.Ser1832=)
c.5568C>G (p.Ser1856=)
c.5493C>G (p.Ser1831=)
c.5193C>G (p.Ser1731=)
c.2457C>G (p.Ser819=)
c.1350C>G (p.Ser450=)
c.5376C>G (p.Ser1792=)
c.1128C>G (p.Ser376=)
c.4356C>G (p.Ser1452=)
n.5532C>G
 COSMIC COSMIC
8g.99642086C>TCA462464334VPS13Bc.5571C>T (p.Ser1857=)
n.5641C>T
c.*1253C>T (n.*1253C>T)
c.5496C>T (p.Ser1832=)
c.5568C>T (p.Ser1856=)
c.5493C>T (p.Ser1831=)
c.5193C>T (p.Ser1731=)
c.2457C>T (p.Ser819=)
c.1350C>T (p.Ser450=)
c.5376C>T (p.Ser1792=)
c.1128C>T (p.Ser376=)
c.4356C>T (p.Ser1452=)
n.5532C>T
 ClinVar gnomAD v4
8g.99642087A>CCA371872681VPS13Bc.5572A>C (p.Lys1858Gln)
n.5642A>C
c.*1254A>C (n.*1254A>C)
c.5497A>C (p.Lys1833Gln)
c.5569A>C (p.Lys1857Gln)
c.5494A>C (p.Lys1832Gln)
c.5194A>C (p.Lys1732Gln)
c.2458A>C (p.Lys820Gln)
c.1351A>C (p.Lys451Gln)
c.5377A>C (p.Lys1793Gln)
c.1129A>C (p.Lys377Gln)
c.4357A>C (p.Lys1453Gln)
n.5533A>C
8g.99642087A>GCA371872682VPS13Bc.5572A>G (p.Lys1858Glu)
n.5642A>G
c.*1254A>G (n.*1254A>G)
c.5497A>G (p.Lys1833Glu)
c.5569A>G (p.Lys1857Glu)
c.5494A>G (p.Lys1832Glu)
c.5194A>G (p.Lys1732Glu)
c.2458A>G (p.Lys820Glu)
c.1351A>G (p.Lys451Glu)
c.5377A>G (p.Lys1793Glu)
c.1129A>G (p.Lys377Glu)
c.4357A>G (p.Lys1453Glu)
n.5533A>G
8g.99642087A>TCA371872683VPS13Bc.5572A>T (p.Lys1858Ter)
n.5642A>T
c.*1254A>T (n.*1254A>T)
c.5497A>T (p.Lys1833Ter)
c.5569A>T (p.Lys1857Ter)
c.5494A>T (p.Lys1832Ter)
c.5194A>T (p.Lys1732Ter)
c.2458A>T (p.Lys820Ter)
c.1351A>T (p.Lys451Ter)
c.5377A>T (p.Lys1793Ter)
c.1129A>T (p.Lys377Ter)
c.4357A>T (p.Lys1453Ter)
n.5533A>T
8g.99642088A=CA1805821175VPS13Bc.5573A= (p.Lys1858=)
n.5643A=
c.*1255A= (n.*1255A=)
c.5498A= (p.Lys1833=)
c.5570A= (p.Lys1857=)
c.5495A= (p.Lys1832=)
c.5195A= (p.Lys1732=)
c.2459A= (p.Lys820=)
c.1352A= (p.Lys451=)
c.5378A= (p.Lys1793=)
c.1130A= (p.Lys377=)
c.4358A= (p.Lys1453=)
n.5534A=
8g.99642088A>CCA4823831VPS13Bc.5573A>C (p.Lys1858Thr)
n.5643A>C
c.*1255A>C (n.*1255A>C)
c.5498A>C (p.Lys1833Thr)
c.5570A>C (p.Lys1857Thr)
c.5495A>C (p.Lys1832Thr)
c.5195A>C (p.Lys1732Thr)
c.2459A>C (p.Lys820Thr)
c.1352A>C (p.Lys451Thr)
c.5378A>C (p.Lys1793Thr)
c.1130A>C (p.Lys377Thr)
c.4358A>C (p.Lys1453Thr)
n.5534A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642088A>GCA371872684VPS13Bc.5573A>G (p.Lys1858Arg)
n.5643A>G
c.*1255A>G (n.*1255A>G)
c.5498A>G (p.Lys1833Arg)
c.5570A>G (p.Lys1857Arg)
c.5495A>G (p.Lys1832Arg)
c.5195A>G (p.Lys1732Arg)
c.2459A>G (p.Lys820Arg)
c.1352A>G (p.Lys451Arg)
c.5378A>G (p.Lys1793Arg)
c.1130A>G (p.Lys377Arg)
c.4358A>G (p.Lys1453Arg)
n.5534A>G
 ClinVar dbSNP gnomAD v4
8g.99642088A>TCA371872685VPS13Bc.5573A>T (p.Lys1858Ile)
n.5643A>T
c.*1255A>T (n.*1255A>T)
c.5498A>T (p.Lys1833Ile)
c.5570A>T (p.Lys1857Ile)
c.5495A>T (p.Lys1832Ile)
c.5195A>T (p.Lys1732Ile)
c.2459A>T (p.Lys820Ile)
c.1352A>T (p.Lys451Ile)
c.5378A>T (p.Lys1793Ile)
c.1130A>T (p.Lys377Ile)
c.4358A>T (p.Lys1453Ile)
n.5534A>T
 gnomAD v4
8g.99642089A=CA1805821183VPS13Bc.5574A= (p.Lys1858=)
n.5644A=
c.*1256A= (n.*1256A=)
c.5499A= (p.Lys1833=)
c.5571A= (p.Lys1857=)
c.5496A= (p.Lys1832=)
c.5196A= (p.Lys1732=)
c.2460A= (p.Lys820=)
c.1353A= (p.Lys451=)
c.5379A= (p.Lys1793=)
c.1131A= (p.Lys377=)
c.4359A= (p.Lys1453=)
n.5535A=
8g.99642089A>CCA371872687VPS13Bc.5574A>C (p.Lys1858Asn)
n.5644A>C
c.*1256A>C (n.*1256A>C)
c.5499A>C (p.Lys1833Asn)
c.5571A>C (p.Lys1857Asn)
c.5496A>C (p.Lys1832Asn)
c.5196A>C (p.Lys1732Asn)
c.2460A>C (p.Lys820Asn)
c.1353A>C (p.Lys451Asn)
c.5379A>C (p.Lys1793Asn)
c.1131A>C (p.Lys377Asn)
c.4359A>C (p.Lys1453Asn)
n.5535A>C
8g.99642089A>GCA183013561VPS13Bc.5574A>G (p.Lys1858=)
n.5644A>G
c.*1256A>G (n.*1256A>G)
c.5499A>G (p.Lys1833=)
c.5571A>G (p.Lys1857=)
c.5496A>G (p.Lys1832=)
c.5196A>G (p.Lys1732=)
c.2460A>G (p.Lys820=)
c.1353A>G (p.Lys451=)
c.5379A>G (p.Lys1793=)
c.1131A>G (p.Lys377=)
c.4359A>G (p.Lys1453=)
n.5535A>G
 ClinVar dbSNP gnomAD v4
8g.99642089A>TCA371872686VPS13Bc.5574A>T (p.Lys1858Asn)
n.5644A>T
c.*1256A>T (n.*1256A>T)
c.5499A>T (p.Lys1833Asn)
c.5571A>T (p.Lys1857Asn)
c.5496A>T (p.Lys1832Asn)
c.5196A>T (p.Lys1732Asn)
c.2460A>T (p.Lys820Asn)
c.1353A>T (p.Lys451Asn)
c.5379A>T (p.Lys1793Asn)
c.1131A>T (p.Lys377Asn)
c.4359A>T (p.Lys1453Asn)
n.5535A>T
8g.99642090T>ACA371872688VPS13Bc.5575T>A (p.Ser1859Thr)
n.5645T>A
c.*1257T>A (n.*1257T>A)
c.5500T>A (p.Ser1834Thr)
c.5572T>A (p.Ser1858Thr)
c.5497T>A (p.Ser1833Thr)
c.5197T>A (p.Ser1733Thr)
c.2461T>A (p.Ser821Thr)
c.1354T>A (p.Ser452Thr)
c.5380T>A (p.Ser1794Thr)
c.1132T>A (p.Ser378Thr)
c.4360T>A (p.Ser1454Thr)
n.5536T>A
8g.99642090T>CCA371872689VPS13Bc.5575T>C (p.Ser1859Pro)
n.5645T>C
c.*1257T>C (n.*1257T>C)
c.5500T>C (p.Ser1834Pro)
c.5572T>C (p.Ser1858Pro)
c.5497T>C (p.Ser1833Pro)
c.5197T>C (p.Ser1733Pro)
c.2461T>C (p.Ser821Pro)
c.1354T>C (p.Ser452Pro)
c.5380T>C (p.Ser1794Pro)
c.1132T>C (p.Ser378Pro)
c.4360T>C (p.Ser1454Pro)
n.5536T>C
8g.99642090T>GCA4823832VPS13Bc.5575T>G (p.Ser1859Ala)
n.5645T>G
c.*1257T>G (n.*1257T>G)
c.5500T>G (p.Ser1834Ala)
c.5572T>G (p.Ser1858Ala)
c.5497T>G (p.Ser1833Ala)
c.5197T>G (p.Ser1733Ala)
c.2461T>G (p.Ser821Ala)
c.1354T>G (p.Ser452Ala)
c.5380T>G (p.Ser1794Ala)
c.1132T>G (p.Ser378Ala)
c.4360T>G (p.Ser1454Ala)
n.5536T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642090T=CA1805821188VPS13Bc.5575T= (p.Ser1859=)
n.5645T=
c.*1257T= (n.*1257T=)
c.5500T= (p.Ser1834=)
c.5572T= (p.Ser1858=)
c.5497T= (p.Ser1833=)
c.5197T= (p.Ser1733=)
c.2461T= (p.Ser821=)
c.1354T= (p.Ser452=)
c.5380T= (p.Ser1794=)
c.1132T= (p.Ser378=)
c.4360T= (p.Ser1454=)
n.5536T=
8g.99642091C>ACA371872690VPS13Bc.5576C>A (p.Ser1859Ter)
n.5646C>A
c.*1258C>A (n.*1258C>A)
c.5501C>A (p.Ser1834Ter)
c.5573C>A (p.Ser1858Ter)
c.5498C>A (p.Ser1833Ter)
c.5198C>A (p.Ser1733Ter)
c.2462C>A (p.Ser821Ter)
c.1355C>A (p.Ser452Ter)
c.5381C>A (p.Ser1794Ter)
c.1133C>A (p.Ser378Ter)
c.4361C>A (p.Ser1454Ter)
n.5537C>A
 gnomAD v4
8g.99642091C=CA1805821197VPS13Bc.5576C= (p.Ser1859=)
n.5646C=
c.*1258C= (n.*1258C=)
c.5501C= (p.Ser1834=)
c.5573C= (p.Ser1858=)
c.5498C= (p.Ser1833=)
c.5198C= (p.Ser1733=)
c.2462C= (p.Ser821=)
c.1355C= (p.Ser452=)
c.5381C= (p.Ser1794=)
c.1133C= (p.Ser378=)
c.4361C= (p.Ser1454=)
n.5537C=
8g.99642091C>GCA371872691VPS13Bc.5576C>G (p.Ser1859Trp)
n.5646C>G
c.*1258C>G (n.*1258C>G)
c.5501C>G (p.Ser1834Trp)
c.5573C>G (p.Ser1858Trp)
c.5498C>G (p.Ser1833Trp)
c.5198C>G (p.Ser1733Trp)
c.2462C>G (p.Ser821Trp)
c.1355C>G (p.Ser452Trp)
c.5381C>G (p.Ser1794Trp)
c.1133C>G (p.Ser378Trp)
c.4361C>G (p.Ser1454Trp)
n.5537C>G
 dbSNP gnomAD v3 gnomAD v4
8g.99642091C>TCA148948VPS13Bc.5576C>T (p.Ser1859Leu)
n.5646C>T
c.*1258C>T (n.*1258C>T)
c.5501C>T (p.Ser1834Leu)
c.5573C>T (p.Ser1858Leu)
c.5498C>T (p.Ser1833Leu)
c.5198C>T (p.Ser1733Leu)
c.2462C>T (p.Ser821Leu)
c.1355C>T (p.Ser452Leu)
c.5381C>T (p.Ser1794Leu)
c.1133C>T (p.Ser378Leu)
c.4361C>T (p.Ser1454Leu)
n.5537C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99642092G>ACA4823833VPS13Bc.5577G>A (p.Ser1859=)
n.5647G>A
c.*1259G>A (n.*1259G>A)
c.5502G>A (p.Ser1834=)
c.5574G>A (p.Ser1858=)
c.5499G>A (p.Ser1833=)
c.5199G>A (p.Ser1733=)
c.2463G>A (p.Ser821=)
c.1356G>A (p.Ser452=)
c.5382G>A (p.Ser1794=)
c.1134G>A (p.Ser378=)
c.4362G>A (p.Ser1454=)
n.5538G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642092G>CCA462464340VPS13Bc.5577G>C (p.Ser1859=)
n.5647G>C
c.*1259G>C (n.*1259G>C)
c.5502G>C (p.Ser1834=)
c.5574G>C (p.Ser1858=)
c.5499G>C (p.Ser1833=)
c.5199G>C (p.Ser1733=)
c.2463G>C (p.Ser821=)
c.1356G>C (p.Ser452=)
c.5382G>C (p.Ser1794=)
c.1134G>C (p.Ser378=)
c.4362G>C (p.Ser1454=)
n.5538G>C
8g.99642092G=CA1805821209VPS13Bc.5577G= (p.Ser1859=)
n.5647G=
c.*1259G= (n.*1259G=)
c.5502G= (p.Ser1834=)
c.5574G= (p.Ser1858=)
c.5499G= (p.Ser1833=)
c.5199G= (p.Ser1733=)
c.2463G= (p.Ser821=)
c.1356G= (p.Ser452=)
c.5382G= (p.Ser1794=)
c.1134G= (p.Ser378=)
c.4362G= (p.Ser1454=)
n.5538G=
8g.99642092G>TCA4823834VPS13Bc.5577G>T (p.Ser1859=)
n.5647G>T
c.*1259G>T (n.*1259G>T)
c.5502G>T (p.Ser1834=)
c.5574G>T (p.Ser1858=)
c.5499G>T (p.Ser1833=)
c.5199G>T (p.Ser1733=)
c.2463G>T (p.Ser821=)
c.1356G>T (p.Ser452=)
c.5382G>T (p.Ser1794=)
c.1134G>T (p.Ser378=)
c.4362G>T (p.Ser1454=)
n.5538G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642093A>CCA371872692VPS13Bc.5578A>C (p.Lys1860Gln)
n.5648A>C
c.*1260A>C (n.*1260A>C)
c.5503A>C (p.Lys1835Gln)
c.5575A>C (p.Lys1859Gln)
c.5500A>C (p.Lys1834Gln)
c.5200A>C (p.Lys1734Gln)
c.2464A>C (p.Lys822Gln)
c.1357A>C (p.Lys453Gln)
c.5383A>C (p.Lys1795Gln)
c.1135A>C (p.Lys379Gln)
c.4363A>C (p.Lys1455Gln)
n.5539A>C
8g.99642093A>GCA371872693VPS13Bc.5578A>G (p.Lys1860Glu)
n.5648A>G
c.*1260A>G (n.*1260A>G)
c.5503A>G (p.Lys1835Glu)
c.5575A>G (p.Lys1859Glu)
c.5500A>G (p.Lys1834Glu)
c.5200A>G (p.Lys1734Glu)
c.2464A>G (p.Lys822Glu)
c.1357A>G (p.Lys453Glu)
c.5383A>G (p.Lys1795Glu)
c.1135A>G (p.Lys379Glu)
c.4363A>G (p.Lys1455Glu)
n.5539A>G
8g.99642093A>TCA371872694VPS13Bc.5578A>T (p.Lys1860Ter)
n.5648A>T
c.*1260A>T (n.*1260A>T)
c.5503A>T (p.Lys1835Ter)
c.5575A>T (p.Lys1859Ter)
c.5500A>T (p.Lys1834Ter)
c.5200A>T (p.Lys1734Ter)
c.2464A>T (p.Lys822Ter)
c.1357A>T (p.Lys453Ter)
c.5383A>T (p.Lys1795Ter)
c.1135A>T (p.Lys379Ter)
c.4363A>T (p.Lys1455Ter)
n.5539A>T
 COSMIC COSMIC
8g.99642094A>CCA371872695VPS13Bc.5579A>C (p.Lys1860Thr)
n.5649A>C
c.*1261A>C (n.*1261A>C)
c.5504A>C (p.Lys1835Thr)
c.5576A>C (p.Lys1859Thr)
c.5501A>C (p.Lys1834Thr)
c.5201A>C (p.Lys1734Thr)
c.2465A>C (p.Lys822Thr)
c.1358A>C (p.Lys453Thr)
c.5384A>C (p.Lys1795Thr)
c.1136A>C (p.Lys379Thr)
c.4364A>C (p.Lys1455Thr)
n.5540A>C
8g.99642094A>GCA371872696VPS13Bc.5579A>G (p.Lys1860Arg)
n.5649A>G
c.*1261A>G (n.*1261A>G)
c.5504A>G (p.Lys1835Arg)
c.5576A>G (p.Lys1859Arg)
c.5501A>G (p.Lys1834Arg)
c.5201A>G (p.Lys1734Arg)
c.2465A>G (p.Lys822Arg)
c.1358A>G (p.Lys453Arg)
c.5384A>G (p.Lys1795Arg)
c.1136A>G (p.Lys379Arg)
c.4364A>G (p.Lys1455Arg)
n.5540A>G
8g.99642094A>TCA371872697VPS13Bc.5579A>T (p.Lys1860Ile)
n.5649A>T
c.*1261A>T (n.*1261A>T)
c.5504A>T (p.Lys1835Ile)
c.5576A>T (p.Lys1859Ile)
c.5501A>T (p.Lys1834Ile)
c.5201A>T (p.Lys1734Ile)
c.2465A>T (p.Lys822Ile)
c.1358A>T (p.Lys453Ile)
c.5384A>T (p.Lys1795Ile)
c.1136A>T (p.Lys379Ile)
c.4364A>T (p.Lys1455Ile)
n.5540A>T
8g.99642095A>CCA371872698VPS13Bc.5580A>C (p.Lys1860Asn)
n.5650A>C
c.*1262A>C (n.*1262A>C)
c.5505A>C (p.Lys1835Asn)
c.5577A>C (p.Lys1859Asn)
c.5502A>C (p.Lys1834Asn)
c.5202A>C (p.Lys1734Asn)
c.2466A>C (p.Lys822Asn)
c.1359A>C (p.Lys453Asn)
c.5385A>C (p.Lys1795Asn)
c.1137A>C (p.Lys379Asn)
c.4365A>C (p.Lys1455Asn)
n.5541A>C
8g.99642095A>GCA462464346VPS13Bc.5580A>G (p.Lys1860=)
n.5650A>G
c.*1262A>G (n.*1262A>G)
c.5505A>G (p.Lys1835=)
c.5577A>G (p.Lys1859=)
c.5502A>G (p.Lys1834=)
c.5202A>G (p.Lys1734=)
c.2466A>G (p.Lys822=)
c.1359A>G (p.Lys453=)
c.5385A>G (p.Lys1795=)
c.1137A>G (p.Lys379=)
c.4365A>G (p.Lys1455=)
n.5541A>G
8g.99642095A>TCA371872699VPS13Bc.5580A>T (p.Lys1860Asn)
n.5650A>T
c.*1262A>T (n.*1262A>T)
c.5505A>T (p.Lys1835Asn)
c.5577A>T (p.Lys1859Asn)
c.5502A>T (p.Lys1834Asn)
c.5202A>T (p.Lys1734Asn)
c.2466A>T (p.Lys822Asn)
c.1359A>T (p.Lys453Asn)
c.5385A>T (p.Lys1795Asn)
c.1137A>T (p.Lys379Asn)
c.4365A>T (p.Lys1455Asn)
n.5541A>T
8g.99642096T>ACA371872700VPS13Bc.5581T>A (p.Ser1861Thr)
n.5651T>A
c.*1263T>A (n.*1263T>A)
c.5506T>A (p.Ser1836Thr)
c.5578T>A (p.Ser1860Thr)
c.5503T>A (p.Ser1835Thr)
c.5203T>A (p.Ser1735Thr)
c.2467T>A (p.Ser823Thr)
c.1360T>A (p.Ser454Thr)
c.5386T>A (p.Ser1796Thr)
c.1138T>A (p.Ser380Thr)
c.4366T>A (p.Ser1456Thr)
n.5542T>A
8g.99642096T>CCA371872701VPS13Bc.5581T>C (p.Ser1861Pro)
n.5651T>C
c.*1263T>C (n.*1263T>C)
c.5506T>C (p.Ser1836Pro)
c.5578T>C (p.Ser1860Pro)
c.5503T>C (p.Ser1835Pro)
c.5203T>C (p.Ser1735Pro)
c.2467T>C (p.Ser823Pro)
c.1360T>C (p.Ser454Pro)
c.5386T>C (p.Ser1796Pro)
c.1138T>C (p.Ser380Pro)
c.4366T>C (p.Ser1456Pro)
n.5542T>C
8g.99642096T>GCA371872702VPS13Bc.5581T>G (p.Ser1861Ala)
n.5651T>G
c.*1263T>G (n.*1263T>G)
c.5506T>G (p.Ser1836Ala)
c.5578T>G (p.Ser1860Ala)
c.5503T>G (p.Ser1835Ala)
c.5203T>G (p.Ser1735Ala)
c.2467T>G (p.Ser823Ala)
c.1360T>G (p.Ser454Ala)
c.5386T>G (p.Ser1796Ala)
c.1138T>G (p.Ser380Ala)
c.4366T>G (p.Ser1456Ala)
n.5542T>G
8g.99642097C>ACA371872703VPS13Bc.5582C>A (p.Ser1861Ter)
n.5652C>A
c.*1264C>A (n.*1264C>A)
c.5507C>A (p.Ser1836Ter)
c.5579C>A (p.Ser1860Ter)
c.5504C>A (p.Ser1835Ter)
c.5204C>A (p.Ser1735Ter)
c.2468C>A (p.Ser823Ter)
c.1361C>A (p.Ser454Ter)
c.5387C>A (p.Ser1796Ter)
c.1139C>A (p.Ser380Ter)
c.4367C>A (p.Ser1456Ter)
n.5543C>A
8g.99642097C=CA1805821223VPS13Bc.5582C= (p.Ser1861=)
n.5652C=
c.*1264C= (n.*1264C=)
c.5507C= (p.Ser1836=)
c.5579C= (p.Ser1860=)
c.5504C= (p.Ser1835=)
c.5204C= (p.Ser1735=)
c.2468C= (p.Ser823=)
c.1361C= (p.Ser454=)
c.5387C= (p.Ser1796=)
c.1139C= (p.Ser380=)
c.4367C= (p.Ser1456=)
n.5543C=
8g.99642097C>GCA371872704VPS13Bc.5582C>G (p.Ser1861Ter)
n.5652C>G
c.*1264C>G (n.*1264C>G)
c.5507C>G (p.Ser1836Ter)
c.5579C>G (p.Ser1860Ter)
c.5504C>G (p.Ser1835Ter)
c.5204C>G (p.Ser1735Ter)
c.2468C>G (p.Ser823Ter)
c.1361C>G (p.Ser454Ter)
c.5387C>G (p.Ser1796Ter)
c.1139C>G (p.Ser380Ter)
c.4367C>G (p.Ser1456Ter)
n.5543C>G
8g.99642097C>TCA183013568VPS13Bc.5582C>T (p.Ser1861Leu)
n.5652C>T
c.*1264C>T (n.*1264C>T)
c.5507C>T (p.Ser1836Leu)
c.5579C>T (p.Ser1860Leu)
c.5504C>T (p.Ser1835Leu)
c.5204C>T (p.Ser1735Leu)
c.2468C>T (p.Ser823Leu)
c.1361C>T (p.Ser454Leu)
c.5387C>T (p.Ser1796Leu)
c.1139C>T (p.Ser380Leu)
c.4367C>T (p.Ser1456Leu)
n.5543C>T
 dbSNP gnomAD v4 COSMIC COSMIC
8g.99642098A>CCA462464351VPS13Bc.5583A>C (p.Ser1861=)
n.5653A>C
c.*1265A>C (n.*1265A>C)
c.5508A>C (p.Ser1836=)
c.5580A>C (p.Ser1860=)
c.5505A>C (p.Ser1835=)
c.5205A>C (p.Ser1735=)
c.2469A>C (p.Ser823=)
c.1362A>C (p.Ser454=)
c.5388A>C (p.Ser1796=)
c.1140A>C (p.Ser380=)
c.4368A>C (p.Ser1456=)
n.5544A>C
8g.99642098A>GCA462464349VPS13Bc.5583A>G (p.Ser1861=)
n.5653A>G
c.*1265A>G (n.*1265A>G)
c.5508A>G (p.Ser1836=)
c.5580A>G (p.Ser1860=)
c.5505A>G (p.Ser1835=)
c.5205A>G (p.Ser1735=)
c.2469A>G (p.Ser823=)
c.1362A>G (p.Ser454=)
c.5388A>G (p.Ser1796=)
c.1140A>G (p.Ser380=)
c.4368A>G (p.Ser1456=)
n.5544A>G
 ClinVar gnomAD v4
8g.99642098A>TCA462464350VPS13Bc.5583A>T (p.Ser1861=)
n.5653A>T
c.*1265A>T (n.*1265A>T)
c.5508A>T (p.Ser1836=)
c.5580A>T (p.Ser1860=)
c.5505A>T (p.Ser1835=)
c.5205A>T (p.Ser1735=)
c.2469A>T (p.Ser823=)
c.1362A>T (p.Ser454=)
c.5388A>T (p.Ser1796=)
c.1140A>T (p.Ser380=)
c.4368A>T (p.Ser1456=)
n.5544A>T
 ClinVar dbSNP
8g.99642099C>ACA371872707VPS13Bc.5584C>A (p.Gln1862Lys)
n.5654C>A
c.*1266C>A (n.*1266C>A)
c.5509C>A (p.Gln1837Lys)
c.5581C>A (p.Gln1861Lys)
c.5506C>A (p.Gln1836Lys)
c.5206C>A (p.Gln1736Lys)
c.2470C>A (p.Gln824Lys)
c.1363C>A (p.Gln455Lys)
c.5389C>A (p.Gln1797Lys)
c.1141C>A (p.Gln381Lys)
c.4369C>A (p.Gln1457Lys)
n.5545C>A
8g.99642099C>GCA371872706VPS13Bc.5584C>G (p.Gln1862Glu)
n.5654C>G
c.*1266C>G (n.*1266C>G)
c.5509C>G (p.Gln1837Glu)
c.5581C>G (p.Gln1861Glu)
c.5506C>G (p.Gln1836Glu)
c.5206C>G (p.Gln1736Glu)
c.2470C>G (p.Gln824Glu)
c.1363C>G (p.Gln455Glu)
c.5389C>G (p.Gln1797Glu)
c.1141C>G (p.Gln381Glu)
c.4369C>G (p.Gln1457Glu)
n.5545C>G
8g.99642099C>TCA371872705VPS13Bc.5584C>T (p.Gln1862Ter)
n.5654C>T
c.*1266C>T (n.*1266C>T)
c.5509C>T (p.Gln1837Ter)
c.5581C>T (p.Gln1861Ter)
c.5506C>T (p.Gln1836Ter)
c.5206C>T (p.Gln1736Ter)
c.2470C>T (p.Gln824Ter)
c.1363C>T (p.Gln455Ter)
c.5389C>T (p.Gln1797Ter)
c.1141C>T (p.Gln381Ter)
c.4369C>T (p.Gln1457Ter)
n.5545C>T
8g.99642100A>CCA371872708VPS13Bc.5585A>C (p.Gln1862Pro)
n.5655A>C
c.*1267A>C (n.*1267A>C)
c.5510A>C (p.Gln1837Pro)
c.5582A>C (p.Gln1861Pro)
c.5507A>C (p.Gln1836Pro)
c.5207A>C (p.Gln1736Pro)
c.2471A>C (p.Gln824Pro)
c.1364A>C (p.Gln455Pro)
c.5390A>C (p.Gln1797Pro)
c.1142A>C (p.Gln381Pro)
c.4370A>C (p.Gln1457Pro)
n.5546A>C
8g.99642100A>GCA371872709VPS13Bc.5585A>G (p.Gln1862Arg)
n.5655A>G
c.*1267A>G (n.*1267A>G)
c.5510A>G (p.Gln1837Arg)
c.5582A>G (p.Gln1861Arg)
c.5507A>G (p.Gln1836Arg)
c.5207A>G (p.Gln1736Arg)
c.2471A>G (p.Gln824Arg)
c.1364A>G (p.Gln455Arg)
c.5390A>G (p.Gln1797Arg)
c.1142A>G (p.Gln381Arg)
c.4370A>G (p.Gln1457Arg)
n.5546A>G
8g.99642100A>TCA371872710VPS13Bc.5585A>T (p.Gln1862Leu)
n.5655A>T
c.*1267A>T (n.*1267A>T)
c.5510A>T (p.Gln1837Leu)
c.5582A>T (p.Gln1861Leu)
c.5507A>T (p.Gln1836Leu)
c.5207A>T (p.Gln1736Leu)
c.2471A>T (p.Gln824Leu)
c.1364A>T (p.Gln455Leu)
c.5390A>T (p.Gln1797Leu)
c.1142A>T (p.Gln381Leu)
c.4370A>T (p.Gln1457Leu)
n.5546A>T
8g.99642101A=CA1805821231VPS13Bc.5586A= (p.Gln1862=)
n.5656A=
c.*1268A= (n.*1268A=)
c.5511A= (p.Gln1837=)
c.5583A= (p.Gln1861=)
c.5508A= (p.Gln1836=)
c.5208A= (p.Gln1736=)
c.2472A= (p.Gln824=)
c.1365A= (p.Gln455=)
c.5391A= (p.Gln1797=)
c.1143A= (p.Gln381=)
c.4371A= (p.Gln1457=)
n.5547A=
8g.99642101A>CCA371872711VPS13Bc.5586A>C (p.Gln1862His)
n.5656A>C
c.*1268A>C (n.*1268A>C)
c.5511A>C (p.Gln1837His)
c.5583A>C (p.Gln1861His)
c.5508A>C (p.Gln1836His)
c.5208A>C (p.Gln1736His)
c.2472A>C (p.Gln824His)
c.1365A>C (p.Gln455His)
c.5391A>C (p.Gln1797His)
c.1143A>C (p.Gln381His)
c.4371A>C (p.Gln1457His)
n.5547A>C
8g.99642101A>GCA4823835VPS13Bc.5586A>G (p.Gln1862=)
n.5656A>G
c.*1268A>G (n.*1268A>G)
c.5511A>G (p.Gln1837=)
c.5583A>G (p.Gln1861=)
c.5508A>G (p.Gln1836=)
c.5208A>G (p.Gln1736=)
c.2472A>G (p.Gln824=)
c.1365A>G (p.Gln455=)
c.5391A>G (p.Gln1797=)
c.1143A>G (p.Gln381=)
c.4371A>G (p.Gln1457=)
n.5547A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99642101A>TCA371872712VPS13Bc.5586A>T (p.Gln1862His)
n.5656A>T
c.*1268A>T (n.*1268A>T)
c.5511A>T (p.Gln1837His)
c.5583A>T (p.Gln1861His)
c.5508A>T (p.Gln1836His)
c.5208A>T (p.Gln1736His)
c.2472A>T (p.Gln824His)
c.1365A>T (p.Gln455His)
c.5391A>T (p.Gln1797His)
c.1143A>T (p.Gln381His)
c.4371A>T (p.Gln1457His)
n.5547A>T
8g.99642102G>ACA4823836VPS13Bc.5587G>A (p.Glu1863Lys)
n.5657G>A
c.*1269G>A (n.*1269G>A)
c.5512G>A (p.Glu1838Lys)
c.5584G>A (p.Glu1862Lys)
c.5509G>A (p.Glu1837Lys)
c.5209G>A (p.Glu1737Lys)
c.2473G>A (p.Glu825Lys)
c.1366G>A (p.Glu456Lys)
c.5392G>A (p.Glu1798Lys)
c.1144G>A (p.Glu382Lys)
c.4372G>A (p.Glu1458Lys)
n.5548G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99642102G>CCA371872714VPS13Bc.5587G>C (p.Glu1863Gln)
n.5657G>C
c.*1269G>C (n.*1269G>C)
c.5512G>C (p.Glu1838Gln)
c.5584G>C (p.Glu1862Gln)
c.5509G>C (p.Glu1837Gln)
c.5209G>C (p.Glu1737Gln)
c.2473G>C (p.Glu825Gln)
c.1366G>C (p.Glu456Gln)
c.5392G>C (p.Glu1798Gln)
c.1144G>C (p.Glu382Gln)
c.4372G>C (p.Glu1458Gln)
n.5548G>C
8g.99642102G=CA1805821236VPS13Bc.5587G= (p.Glu1863=)
n.5657G=
c.*1269G= (n.*1269G=)
c.5512G= (p.Glu1838=)
c.5584G= (p.Glu1862=)
c.5509G= (p.Glu1837=)
c.5209G= (p.Glu1737=)
c.2473G= (p.Glu825=)
c.1366G= (p.Glu456=)
c.5392G= (p.Glu1798=)
c.1144G= (p.Glu382=)
c.4372G= (p.Glu1458=)
n.5548G=
8g.99642102G>TCA371872713VPS13Bc.5587G>T (p.Glu1863Ter)
n.5657G>T
c.*1269G>T (n.*1269G>T)
c.5512G>T (p.Glu1838Ter)
c.5584G>T (p.Glu1862Ter)
c.5509G>T (p.Glu1837Ter)
c.5209G>T (p.Glu1737Ter)
c.2473G>T (p.Glu825Ter)
c.1366G>T (p.Glu456Ter)
c.5392G>T (p.Glu1798Ter)
c.1144G>T (p.Glu382Ter)
c.4372G>T (p.Glu1458Ter)
n.5548G>T
 dbSNP
8g.99642103A>CCA371872715VPS13Bc.5588A>C (p.Glu1863Ala)
n.5658A>C
c.*1270A>C (n.*1270A>C)
c.5513A>C (p.Glu1838Ala)
c.5585A>C (p.Glu1862Ala)
c.5510A>C (p.Glu1837Ala)
c.5210A>C (p.Glu1737Ala)
c.2474A>C (p.Glu825Ala)
c.1367A>C (p.Glu456Ala)
c.5393A>C (p.Glu1798Ala)
c.1145A>C (p.Glu382Ala)
c.4373A>C (p.Glu1458Ala)
n.5549A>C
8g.99642103A>GCA371872716VPS13Bc.5588A>G (p.Glu1863Gly)
n.5658A>G
c.*1270A>G (n.*1270A>G)
c.5513A>G (p.Glu1838Gly)
c.5585A>G (p.Glu1862Gly)
c.5510A>G (p.Glu1837Gly)
c.5210A>G (p.Glu1737Gly)
c.2474A>G (p.Glu825Gly)
c.1367A>G (p.Glu456Gly)
c.5393A>G (p.Glu1798Gly)
c.1145A>G (p.Glu382Gly)
c.4373A>G (p.Glu1458Gly)
n.5549A>G
 gnomAD v4
8g.99642103A>TCA371872717VPS13Bc.5588A>T (p.Glu1863Val)
n.5658A>T
c.*1270A>T (n.*1270A>T)
c.5513A>T (p.Glu1838Val)
c.5585A>T (p.Glu1862Val)
c.5510A>T (p.Glu1837Val)
c.5210A>T (p.Glu1737Val)
c.2474A>T (p.Glu825Val)
c.1367A>T (p.Glu456Val)
c.5393A>T (p.Glu1798Val)
c.1145A>T (p.Glu382Val)
c.4373A>T (p.Glu1458Val)
n.5549A>T
8g.99642104A>CCA371872718VPS13Bc.5589A>C (p.Glu1863Asp)
n.5659A>C
c.*1271A>C (n.*1271A>C)
c.5514A>C (p.Glu1838Asp)
c.5586A>C (p.Glu1862Asp)
c.5511A>C (p.Glu1837Asp)
c.5211A>C (p.Glu1737Asp)
c.2475A>C (p.Glu825Asp)
c.1368A>C (p.Glu456Asp)
c.5394A>C (p.Glu1798Asp)
c.1146A>C (p.Glu382Asp)
c.4374A>C (p.Glu1458Asp)
n.5550A>C
8g.99642104A>GCA462464357VPS13Bc.5589A>G (p.Glu1863=)
n.5659A>G
c.*1271A>G (n.*1271A>G)
c.5514A>G (p.Glu1838=)
c.5586A>G (p.Glu1862=)
c.5511A>G (p.Glu1837=)
c.5211A>G (p.Glu1737=)
c.2475A>G (p.Glu825=)
c.1368A>G (p.Glu456=)
c.5394A>G (p.Glu1798=)
c.1146A>G (p.Glu382=)
c.4374A>G (p.Glu1458=)
n.5550A>G
 ClinVar
8g.99642104A>TCA371872719VPS13Bc.5589A>T (p.Glu1863Asp)
n.5659A>T
c.*1271A>T (n.*1271A>T)
c.5514A>T (p.Glu1838Asp)
c.5586A>T (p.Glu1862Asp)
c.5511A>T (p.Glu1837Asp)
c.5211A>T (p.Glu1737Asp)
c.2475A>T (p.Glu825Asp)
c.1368A>T (p.Glu456Asp)
c.5394A>T (p.Glu1798Asp)
c.1146A>T (p.Glu382Asp)
c.4374A>T (p.Glu1458Asp)
n.5550A>T
8g.99642105C>ACA371872720VPS13Bc.5590C>A (p.Gln1864Lys)
n.5660C>A
c.*1272C>A (n.*1272C>A)
c.5515C>A (p.Gln1839Lys)
c.5587C>A (p.Gln1863Lys)
c.5512C>A (p.Gln1838Lys)
c.5212C>A (p.Gln1738Lys)
c.2476C>A (p.Gln826Lys)
c.1369C>A (p.Gln457Lys)
c.5395C>A (p.Gln1799Lys)
c.1147C>A (p.Gln383Lys)
c.4375C>A (p.Gln1459Lys)
n.5551C>A
8g.99642105C=CA1805821246VPS13Bc.5590C= (p.Gln1864=)
n.5660C=
c.*1272C= (n.*1272C=)
c.5515C= (p.Gln1839=)
c.5587C= (p.Gln1863=)
c.5512C= (p.Gln1838=)
c.5212C= (p.Gln1738=)
c.2476C= (p.Gln826=)
c.1369C= (p.Gln457=)
c.5395C= (p.Gln1799=)
c.1147C= (p.Gln383=)
c.4375C= (p.Gln1459=)
n.5551C=
8g.99642105C>GCA371872721VPS13Bc.5590C>G (p.Gln1864Glu)
n.5660C>G
c.*1272C>G (n.*1272C>G)
c.5515C>G (p.Gln1839Glu)
c.5587C>G (p.Gln1863Glu)
c.5512C>G (p.Gln1838Glu)
c.5212C>G (p.Gln1738Glu)
c.2476C>G (p.Gln826Glu)
c.1369C>G (p.Gln457Glu)
c.5395C>G (p.Gln1799Glu)
c.1147C>G (p.Gln383Glu)
c.4375C>G (p.Gln1459Glu)
n.5551C>G
8g.99642105C>TCA16041238VPS13Bc.5590C>T (p.Gln1864Ter)
n.5660C>T
c.*1272C>T (n.*1272C>T)
c.5515C>T (p.Gln1839Ter)
c.5587C>T (p.Gln1863Ter)
c.5512C>T (p.Gln1838Ter)
c.5212C>T (p.Gln1738Ter)
c.2476C>T (p.Gln826Ter)
c.1369C>T (p.Gln457Ter)
c.5395C>T (p.Gln1799Ter)
c.1147C>T (p.Gln383Ter)
c.4375C>T (p.Gln1459Ter)
n.5551C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched