VPS13A vacuolar protein sorting 13 homolog A

Canonical transcript: NM_015186

120 unique variant annotations were identified in 66 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-79792438-G-A c.-183G>A - 5-UTRSNV 1/69 - 1
9-79792438-G-C c.-183G>C - 5-UTRSNV 1/69 - 1
9-79792438-G-T c.-183G>T - 5-UTRSNV 1/69 - 1
9-79792655-A-T c.35A>T p.Asn12Ile Missense 1/69 - 1
9-79794753-G-A c.100+2033G>A - IntronicSNV - 1/68 2
9-79794753-G-T c.100+2033G>T - IntronicSNV - 1/68 2
9-79802986-G-A c.100+10266G>A - IntronicSNV - 1/68 1
9-79816290-G-A c.154G>A p.Asp52Asn Missense 3/69 - 1
9-79816315-G-T c.179G>T p.Gly60Val Missense 3/69 - 1
9-79820224-T-G c.188-5T>G - IntronicSNV - 3/68 2
9-79820278-TT-T c.237del p.Glu80Lysfs*11 Frameshift 4/69 - 2
9-79820310-T-A c.269T>A p.Ile90Lys Missense 4/69 - 2
9-79820324-A-T c.283A>T p.Arg95* Nonsense 4/69 - 1
9-79820947-C-T c.337C>T p.Gln113* Nonsense 5/69 - 1
9-79824002-C-T c.386-337C>T - IntronicSNV - 5/68 1
9-79824453-G-A c.495+5G>A - IntronicSNV - 6/68 2
9-79827885-GACAACTGATCAATACTGGGTTCCATGTTTACATGATGAAACTGAGAAACTGGTTCGTAA-G c.556_614del p.Thr186Valfs*6 Unclassified 8/69 - 2
9-79827918-G-A c.589G>A p.Asp197Asn Missense 8/69 - 1
9-79828067-C-T c.616-83C>T - IntronicSNV - 8/68 1
9-79828228-CTTG-C c.694_696del p.Leu232del InFrameDeletion 9/69 - 1
9-79834914-C-T c.799C>T p.Arg267* Nonsense 11/69 - 1
9-79835101-T-C c.883-92T>C - IntronicSNV - 11/68 1
9-79835272-T-TT c.962dup p.Pro322Alafs*19 Frameshift 12/69 - 1
9-79835281-A-G c.971A>G p.His324Arg Missense 12/69 - 1
9-79836131-A-G c.1020A>G p.Glu340Glu Synonymous 13/69 - 1
9-79836226-AA-A c.1115del p.Lys372Serfs*2 Frameshift 13/69 - 2
9-79840887-C-T c.1207C>T p.Gln403* Nonsense 14/69 - 1
9-79840888-CAGAC-C c.1208_1211del p.Gln403Argfs*6 Frameshift 14/69 - 2
9-79841462-G-A c.1305G>A p.Trp435* Nonsense 15/69 - 1
9-79843177-AT-A c.1592del p.Ile531Lysfs*7 Frameshift 17/69 - 1
9-79846516-T-C c.1595+3336T>C - IntronicSNV - 17/68 1
9-79851954-T-C c.1596-964T>C - IntronicSNV - 17/68 1
9-79852950-C-T c.1628C>T p.Thr543Ile Missense 18/69 - 1
9-79852982-C-T c.1660C>T p.Leu554Phe Missense 18/69 - 1
9-79862224-T-A c.1950T>A p.Asn650Lys Missense 20/69 - 1
9-79862224-T-G c.1950T>G p.Asn650Lys Missense 20/69 - 1
9-79862502-T-C c.2037+191T>C - IntronicSNV - 20/68 2
9-79862502-T-G c.2037+191T>G - IntronicSNV - 20/68 2
9-79862742-A-C c.2037+431A>C - IntronicSNV - 20/68 1
9-79865118-A-G c.2143A>G p.Ser715Gly Missense 21/69 - 1
9-79866977-C-T c.2171-174C>T - IntronicSNV - 21/68 1
9-79867171-C-T c.2191C>T p.Arg731* Nonsense 22/69 - 1
9-79867270-T-C c.2288+2T>C - IntronicSNV - 22/68 2
9-79869852-T-G c.2288+2584T>G - IntronicSNV - 22/68 1
9-79875056-AA-A c.2343del p.Lys781Asnfs*8 Frameshift 23/69 - 2
9-79888145-C-T c.2428-51C>T - IntronicSNV - 23/68 1
9-79888396-A-G c.2512+116A>G - IntronicSNV - 24/68 1
9-79888396-A-T c.2512+116A>T - IntronicSNV - 24/68 1
9-79891006-T-C c.2693T>C p.Val898Ala Missense 26/69 - 2
9-79891237-T-A c.2824+100T>A - IntronicSNV - 26/68 1
9-79891237-T-C c.2824+100T>C - IntronicSNV - 26/68 1
9-79891237-T-G c.2824+100T>G - IntronicSNV - 26/68 1
9-79895534-A-G c.2904+380A>G - IntronicSNV - 27/68 1
9-79897062-A-G c.2990A>G p.His997Arg Missense 29/69 - 1
9-79903387-A-T c.3339+4821A>T - IntronicSNV - 31/68 1
9-79904556-T-C c.3340-3701T>C - IntronicSNV - 31/68 1
9-79906751-G-A c.3340-1506G>A - IntronicSNV - 31/68 1
9-79908273-G-A c.3356G>A p.Gly1119Glu Missense 32/69 - 1
9-79908336-ACA-A c.3419_3420del p.Thr1140Argfs*6 Frameshift 32/69 - 1
9-79915141-T-C c.3813-2690T>C - IntronicSNV - 33/68 1
9-79917660-C-G c.3813-171C>G - IntronicSNV - 33/68 1
9-79917907-C-T c.3889C>T p.Arg1297* Nonsense 34/69 - 3
9-79917908-G-A c.3890G>A p.Arg1297Gln Missense 34/69 - 1
9-79917965-T-C c.3947T>C p.Leu1316Pro Missense 34/69 - 1
9-79922871-AGTCA-A c.3971_3974del p.Ser1324Lysfs*4 Frameshift 35/69 - 1
9-79928923-ACAGCTGC-A c.4130_4136del p.Thr1377Metfs*3 Frameshift 36/69 - 1
9-79929009-GG-G c.4216del p.Val1406Cysfs*20 Frameshift 36/69 - 3
9-79929450-G-C c.4282G>C p.Ala1428Pro Missense 37/69 - 3
9-79929477-A-G c.4309A>G p.Ser1437Gly Missense 37/69 - 1
9-79929494-T-A c.4326T>A p.Tyr1442* Nonsense 37/69 - 1
9-79929579-C-T c.4411C>T p.Arg1471* Nonsense 37/69 - 1
9-79930225-G-A c.4469G>A p.Arg1490Lys Missense 38/69 - 1
9-79931101-G-A c.4642G>A p.Glu1548Lys Missense 39/69 - 2
9-79931101-G-C c.4642G>C p.Glu1548Gln Missense 39/69 - 2
9-79931302-A-T c.4843A>T p.Arg1615* Nonsense 39/69 - 1
9-79932561-GAAAG-G c.4903_4906del p.Lys1635Valfs*6 Frameshift 40/69 - 2
9-79932585-G-A c.4927G>A p.Asp1643Asn Missense 40/69 - 2
9-79935660-A-G c.5416-425A>G - IntronicSNV - 42/68 3
9-79935953-A-G c.5416-132A>G - IntronicSNV - 42/68 1
9-79935953-A-T c.5416-132A>T - IntronicSNV - 42/68 1
9-79936191-T-A c.5522T>A p.Leu1841* Nonsense 43/69 - 1
9-79936191-T-G c.5522T>G p.Leu1841* Nonsense 43/69 - 1
9-79936415-A-G c.5583A>G p.Thr1861Thr Synonymous 44/69 - 4
9-79936593-C-T c.5761C>T p.Arg1921* Nonsense 44/69 - 1
9-79938033-C-T c.5881C>T p.Arg1961* Nonsense 45/69 - 1
9-79938069-G-A c.5917G>A p.Val1973Ile Missense 45/69 - 1
9-79938069-G-T c.5917G>T p.Val1973Phe Missense 45/69 - 1
9-79947030-G-C c.6095+1G>C - IntronicSNV - 46/68 1
9-79949856-C-T c.6096-2315C>T - IntronicSNV - 46/68 1
9-79954457-T-TT c.6404dup p.Ser2136Lysfs*2 Frameshift 48/69 - 1
9-79954472-C-G c.6419C>G p.Ser2140* Nonsense 48/69 - 1
9-79954545-T-C c.6492T>C p.Asp2164Asp Synonymous 48/69 - 3
9-79959083-GG-G c.7041del p.Trp2347Cysfs*36 Frameshift 51/69 - 1
9-79959195-GA-CT c.7153_7154delinsCT p.Glu2385Leu Missense 51/69 - 1
9-79968362-T-C c.7457T>C p.Ile2486Thr Missense 54/69 - 1
9-79971671-G-A c.7694G>A p.Arg2565Lys Missense 55/69 - 1
9-79971783-G-A c.7806G>A p.Pro2602Pro Synonymous 55/69 - 4
9-79972668-C-T c.7867C>T p.Arg2623* Nonsense 56/69 - 4
9-79973335-G-C c.8016G>C p.Lys2672Asn Missense 57/69 - 1
9-79973335-G-T c.8016G>T p.Lys2672Asn Missense 57/69 - 1
9-79973337-C-T c.8018C>T p.Ser2673Leu Missense 57/69 - 1
9-79973354-G-A c.8035G>A p.Ala2679Thr Missense 57/69 - 1
9-79980442-C-T c.8278C>T p.Gln2760* Nonsense 60/69 - 1
9-79980446-C-G c.8282C>G p.Ser2761* Nonsense 60/69 - 1
9-79980974-A-C c.8325+485A>C - IntronicSNV - 60/68 1
9-79982970-G-C c.8472-1G>C - IntronicSNV - 61/68 2
9-79983206-A-G c.8553+154A>G - IntronicSNV - 62/68 1
9-79985181-C-T c.8676C>T p.Ile2892Ile Synonymous 64/69 - 1
9-79985363-G-A c.8776G>A p.Gly2926Ser Missense 65/69 - 1
9-79985410-C-G c.8823C>G p.Tyr2941* Nonsense 65/69 - 1
9-79986004-GT-CA c.9016_9017delinsCA p.Val3006Gln Missense 67/69 - 1
9-79986057-A-G c.9069A>G p.Gly3023Gly Synonymous 67/69 - 2
9-79986057-A-T c.9069A>T p.Gly3023Gly Synonymous 67/69 - 2
9-79986120-G-C c.9077+55G>C - IntronicSNV - 67/68 1
9-79996759-A-G c.9078-133A>G - IntronicSNV - 67/68 1
9-79996759-A-T c.9078-133A>T - IntronicSNV - 67/68 1
9-79996890-A-G c.9078-2A>G - IntronicSNV - 67/68 1
9-79996923-C-T c.9109C>T p.Arg3037* Nonsense 68/69 - 3
9-79999504-AA-A c.9193del p.Ile3065Phefs*9 Frameshift 69/69 - 1
9-79999578-ATGA-A c.9267_9269del p.Asp3089del UnclassifiedDeletion 69/69 - 1