Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99717303A>C | CA371867359 | VPS13B | c.6662A>C (p.His2221Pro) n.6732A>C c.*2344A>C (n.*2344A>C) c.6587A>C (p.His2196Pro) c.6659A>C (p.His2220Pro) c.6584A>C (p.His2195Pro) c.6284A>C (p.His2095Pro) c.3548A>C (p.His1183Pro) c.2441A>C (p.His814Pro) c.6467A>C (p.His2156Pro) c.2219A>C (p.His740Pro) c.5447A>C (p.His1816Pro) | |
8 | g.99717303A>G | CA371867360 | VPS13B | c.6662A>G (p.His2221Arg) n.6732A>G c.*2344A>G (n.*2344A>G) c.6587A>G (p.His2196Arg) c.6659A>G (p.His2220Arg) c.6584A>G (p.His2195Arg) c.6284A>G (p.His2095Arg) c.3548A>G (p.His1183Arg) c.2441A>G (p.His814Arg) c.6467A>G (p.His2156Arg) c.2219A>G (p.His740Arg) c.5447A>G (p.His1816Arg) | |
8 | g.99717303A>T | CA371867361 | VPS13B | c.6662A>T (p.His2221Leu) n.6732A>T c.*2344A>T (n.*2344A>T) c.6587A>T (p.His2196Leu) c.6659A>T (p.His2220Leu) c.6584A>T (p.His2195Leu) c.6284A>T (p.His2095Leu) c.3548A>T (p.His1183Leu) c.2441A>T (p.His814Leu) c.6467A>T (p.His2156Leu) c.2219A>T (p.His740Leu) c.5447A>T (p.His1816Leu) | |
8 | g.99717304C>A | CA371867363 | VPS13B | c.6663C>A (p.His2221Gln) n.6733C>A c.*2345C>A (n.*2345C>A) c.6588C>A (p.His2196Gln) c.6660C>A (p.His2220Gln) c.6585C>A (p.His2195Gln) c.6285C>A (p.His2095Gln) c.3549C>A (p.His1183Gln) c.2442C>A (p.His814Gln) c.6468C>A (p.His2156Gln) c.2220C>A (p.His740Gln) c.5448C>A (p.His1816Gln) | |
8 | g.99717304C>G | CA371867362 | VPS13B | c.6663C>G (p.His2221Gln) n.6733C>G c.*2345C>G (n.*2345C>G) c.6588C>G (p.His2196Gln) c.6660C>G (p.His2220Gln) c.6585C>G (p.His2195Gln) c.6285C>G (p.His2095Gln) c.3549C>G (p.His1183Gln) c.2442C>G (p.His814Gln) c.6468C>G (p.His2156Gln) c.2220C>G (p.His740Gln) c.5448C>G (p.His1816Gln) | |
8 | g.99717304C>T | CA462440281 | VPS13B | c.6663C>T (p.His2221=) n.6733C>T c.*2345C>T (n.*2345C>T) c.6588C>T (p.His2196=) c.6660C>T (p.His2220=) c.6585C>T (p.His2195=) c.6285C>T (p.His2095=) c.3549C>T (p.His1183=) c.2442C>T (p.His814=) c.6468C>T (p.His2156=) c.2220C>T (p.His740=) c.5448C>T (p.His1816=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717305A>C | CA371867364 | VPS13B | c.6664A>C (p.Ser2222Arg) n.6734A>C c.*2346A>C (n.*2346A>C) c.6589A>C (p.Ser2197Arg) c.6661A>C (p.Ser2221Arg) c.6586A>C (p.Ser2196Arg) c.6286A>C (p.Ser2096Arg) c.3550A>C (p.Ser1184Arg) c.2443A>C (p.Ser815Arg) c.6469A>C (p.Ser2157Arg) c.2221A>C (p.Ser741Arg) c.5449A>C (p.Ser1817Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717305A>G | CA371867365 | VPS13B | c.6664A>G (p.Ser2222Gly) n.6734A>G c.*2346A>G (n.*2346A>G) c.6589A>G (p.Ser2197Gly) c.6661A>G (p.Ser2221Gly) c.6586A>G (p.Ser2196Gly) c.6286A>G (p.Ser2096Gly) c.3550A>G (p.Ser1184Gly) c.2443A>G (p.Ser815Gly) c.6469A>G (p.Ser2157Gly) c.2221A>G (p.Ser741Gly) c.5449A>G (p.Ser1817Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717305A>T | CA371867366 | VPS13B | c.6664A>T (p.Ser2222Cys) n.6734A>T c.*2346A>T (n.*2346A>T) c.6589A>T (p.Ser2197Cys) c.6661A>T (p.Ser2221Cys) c.6586A>T (p.Ser2196Cys) c.6286A>T (p.Ser2096Cys) c.3550A>T (p.Ser1184Cys) c.2443A>T (p.Ser815Cys) c.6469A>T (p.Ser2157Cys) c.2221A>T (p.Ser741Cys) c.5449A>T (p.Ser1817Cys) | |
8 | g.99717306G>A | CA371867367 | VPS13B | c.6665G>A (p.Ser2222Asn) n.6735G>A c.*2347G>A (n.*2347G>A) c.6590G>A (p.Ser2197Asn) c.6662G>A (p.Ser2221Asn) c.6587G>A (p.Ser2196Asn) c.6287G>A (p.Ser2096Asn) c.3551G>A (p.Ser1184Asn) c.2444G>A (p.Ser815Asn) c.6470G>A (p.Ser2157Asn) c.2222G>A (p.Ser741Asn) c.5450G>A (p.Ser1817Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717306G>C | CA371867368 | VPS13B | c.6665G>C (p.Ser2222Thr) n.6735G>C c.*2347G>C (n.*2347G>C) c.6590G>C (p.Ser2197Thr) c.6662G>C (p.Ser2221Thr) c.6587G>C (p.Ser2196Thr) c.6287G>C (p.Ser2096Thr) c.3551G>C (p.Ser1184Thr) c.2444G>C (p.Ser815Thr) c.6470G>C (p.Ser2157Thr) c.2222G>C (p.Ser741Thr) c.5450G>C (p.Ser1817Thr) | |
8 | g.99717306G>T | CA371867369 | VPS13B | c.6665G>T (p.Ser2222Ile) n.6735G>T c.*2347G>T (n.*2347G>T) c.6590G>T (p.Ser2197Ile) c.6662G>T (p.Ser2221Ile) c.6587G>T (p.Ser2196Ile) c.6287G>T (p.Ser2096Ile) c.3551G>T (p.Ser1184Ile) c.2444G>T (p.Ser815Ile) c.6470G>T (p.Ser2157Ile) c.2222G>T (p.Ser741Ile) c.5450G>T (p.Ser1817Ile) | |
8 | g.99717307C>A | CA371867370 | VPS13B | c.6666C>A (p.Ser2222Arg) n.6736C>A c.*2348C>A (n.*2348C>A) c.6591C>A (p.Ser2197Arg) c.6663C>A (p.Ser2221Arg) c.6588C>A (p.Ser2196Arg) c.6288C>A (p.Ser2096Arg) c.3552C>A (p.Ser1184Arg) c.2445C>A (p.Ser815Arg) c.6471C>A (p.Ser2157Arg) c.2223C>A (p.Ser741Arg) c.5451C>A (p.Ser1817Arg) | |
8 | g.99717307C>G | CA371867371 | VPS13B | c.6666C>G (p.Ser2222Arg) n.6736C>G c.*2348C>G (n.*2348C>G) c.6591C>G (p.Ser2197Arg) c.6663C>G (p.Ser2221Arg) c.6588C>G (p.Ser2196Arg) c.6288C>G (p.Ser2096Arg) c.3552C>G (p.Ser1184Arg) c.2445C>G (p.Ser815Arg) c.6471C>G (p.Ser2157Arg) c.2223C>G (p.Ser741Arg) c.5451C>G (p.Ser1817Arg) | |
8 | g.99717307C>T | CA4824034 | VPS13B | c.6666C>T (p.Ser2222=) n.6736C>T c.*2348C>T (n.*2348C>T) c.6591C>T (p.Ser2197=) c.6663C>T (p.Ser2221=) c.6588C>T (p.Ser2196=) c.6288C>T (p.Ser2096=) c.3552C>T (p.Ser1184=) c.2445C>T (p.Ser815=) c.6471C>T (p.Ser2157=) c.2223C>T (p.Ser741=) c.5451C>T (p.Ser1817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717308G>A | CA4824035 | VPS13B | c.6667G>A (p.Gly2223Arg) n.6737G>A c.*2349G>A (n.*2349G>A) c.6592G>A (p.Gly2198Arg) c.6664G>A (p.Gly2222Arg) c.6589G>A (p.Gly2197Arg) c.6289G>A (p.Gly2097Arg) c.3553G>A (p.Gly1185Arg) c.2446G>A (p.Gly816Arg) c.6472G>A (p.Gly2158Arg) c.2224G>A (p.Gly742Arg) c.5452G>A (p.Gly1818Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99717308G>C | CA371867372 | VPS13B | c.6667G>C (p.Gly2223Arg) n.6737G>C c.*2349G>C (n.*2349G>C) c.6592G>C (p.Gly2198Arg) c.6664G>C (p.Gly2222Arg) c.6589G>C (p.Gly2197Arg) c.6289G>C (p.Gly2097Arg) c.3553G>C (p.Gly1185Arg) c.2446G>C (p.Gly816Arg) c.6472G>C (p.Gly2158Arg) c.2224G>C (p.Gly742Arg) c.5452G>C (p.Gly1818Arg) | |
8 | g.99717308G>T | CA371867373 | VPS13B | c.6667G>T (p.Gly2223Trp) n.6737G>T c.*2349G>T (n.*2349G>T) c.6592G>T (p.Gly2198Trp) c.6664G>T (p.Gly2222Trp) c.6589G>T (p.Gly2197Trp) c.6289G>T (p.Gly2097Trp) c.3553G>T (p.Gly1185Trp) c.2446G>T (p.Gly816Trp) c.6472G>T (p.Gly2158Trp) c.2224G>T (p.Gly742Trp) c.5452G>T (p.Gly1818Trp) | |
8 | g.99717310dup | CA183029001 | VPS13B | c.6669dup (p.Asn2224GlufsTer14) n.6739dup c.*2351dup (n.*2351dup) c.6594dup (p.Asn2199GlufsTer14) c.6666dup (p.Asn2223GlufsTer14) c.6591dup (p.Asn2198GlufsTer14) c.6291dup (p.Asn2098GlufsTer14) c.3555dup (p.Asn1186GlufsTer14) c.2448dup (p.Asn817GlufsTer14) c.6474dup (p.Asn2159GlufsTer14) c.2226dup (p.Asn743GlufsTer14) c.5454dup (p.Asn1819GlufsTer14) | dbSNP |
8 | g.99717309G>A | CA371867374 | VPS13B | c.6668G>A (p.Gly2223Glu) n.6738G>A c.*2350G>A (n.*2350G>A) c.6593G>A (p.Gly2198Glu) c.6665G>A (p.Gly2222Glu) c.6590G>A (p.Gly2197Glu) c.6290G>A (p.Gly2097Glu) c.3554G>A (p.Gly1185Glu) c.2447G>A (p.Gly816Glu) c.6473G>A (p.Gly2158Glu) c.2225G>A (p.Gly742Glu) c.5453G>A (p.Gly1818Glu) | gnomAD v4 |
8 | g.99717309G>C | CA371867375 | VPS13B | c.6668G>C (p.Gly2223Ala) n.6738G>C c.*2350G>C (n.*2350G>C) c.6593G>C (p.Gly2198Ala) c.6665G>C (p.Gly2222Ala) c.6590G>C (p.Gly2197Ala) c.6290G>C (p.Gly2097Ala) c.3554G>C (p.Gly1185Ala) c.2447G>C (p.Gly816Ala) c.6473G>C (p.Gly2158Ala) c.2225G>C (p.Gly742Ala) c.5453G>C (p.Gly1818Ala) | |
8 | g.99717309G>T | CA371867376 | VPS13B | c.6668G>T (p.Gly2223Val) n.6738G>T c.*2350G>T (n.*2350G>T) c.6593G>T (p.Gly2198Val) c.6665G>T (p.Gly2222Val) c.6590G>T (p.Gly2197Val) c.6290G>T (p.Gly2097Val) c.3554G>T (p.Gly1185Val) c.2447G>T (p.Gly816Val) c.6473G>T (p.Gly2158Val) c.2225G>T (p.Gly742Val) c.5453G>T (p.Gly1818Val) | |
8 | g.99717310G>A | CA462440282 | VPS13B | c.6669G>A (p.Gly2223=) n.6739G>A c.*2351G>A (n.*2351G>A) c.6594G>A (p.Gly2198=) c.6666G>A (p.Gly2222=) c.6591G>A (p.Gly2197=) c.6291G>A (p.Gly2097=) c.3555G>A (p.Gly1185=) c.2448G>A (p.Gly816=) c.6474G>A (p.Gly2158=) c.2226G>A (p.Gly742=) c.5454G>A (p.Gly1818=) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99717310G>C | CA462440283 | VPS13B | c.6669G>C (p.Gly2223=) n.6739G>C c.*2351G>C (n.*2351G>C) c.6594G>C (p.Gly2198=) c.6666G>C (p.Gly2222=) c.6591G>C (p.Gly2197=) c.6291G>C (p.Gly2097=) c.3555G>C (p.Gly1185=) c.2448G>C (p.Gly816=) c.6474G>C (p.Gly2158=) c.2226G>C (p.Gly742=) c.5454G>C (p.Gly1818=) | |
8 | g.99717310G>T | CA462440284 | VPS13B | c.6669G>T (p.Gly2223=) n.6739G>T c.*2351G>T (n.*2351G>T) c.6594G>T (p.Gly2198=) c.6666G>T (p.Gly2222=) c.6591G>T (p.Gly2197=) c.6291G>T (p.Gly2097=) c.3555G>T (p.Gly1185=) c.2448G>T (p.Gly816=) c.6474G>T (p.Gly2158=) c.2226G>T (p.Gly742=) c.5454G>T (p.Gly1818=) | |
8 | g.99717311A>C | CA371867377 | VPS13B | c.6670A>C (p.Asn2224His) n.6740A>C c.*2352A>C (n.*2352A>C) c.6595A>C (p.Asn2199His) c.6667A>C (p.Asn2223His) c.6592A>C (p.Asn2198His) c.6292A>C (p.Asn2098His) c.3556A>C (p.Asn1186His) c.2449A>C (p.Asn817His) c.6475A>C (p.Asn2159His) c.2227A>C (p.Asn743His) c.5455A>C (p.Asn1819His) | |
8 | g.99717311A>G | CA371867378 | VPS13B | c.6670A>G (p.Asn2224Asp) n.6740A>G c.*2352A>G (n.*2352A>G) c.6595A>G (p.Asn2199Asp) c.6667A>G (p.Asn2223Asp) c.6592A>G (p.Asn2198Asp) c.6292A>G (p.Asn2098Asp) c.3556A>G (p.Asn1186Asp) c.2449A>G (p.Asn817Asp) c.6475A>G (p.Asn2159Asp) c.2227A>G (p.Asn743Asp) c.5455A>G (p.Asn1819Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717311A>T | CA371867379 | VPS13B | c.6670A>T (p.Asn2224Tyr) n.6740A>T c.*2352A>T (n.*2352A>T) c.6595A>T (p.Asn2199Tyr) c.6667A>T (p.Asn2223Tyr) c.6592A>T (p.Asn2198Tyr) c.6292A>T (p.Asn2098Tyr) c.3556A>T (p.Asn1186Tyr) c.2449A>T (p.Asn817Tyr) c.6475A>T (p.Asn2159Tyr) c.2227A>T (p.Asn743Tyr) c.5455A>T (p.Asn1819Tyr) | |
8 | g.99717312A>C | CA371867380 | VPS13B | c.6671A>C (p.Asn2224Thr) n.6741A>C c.*2353A>C (n.*2353A>C) c.6596A>C (p.Asn2199Thr) c.6668A>C (p.Asn2223Thr) c.6593A>C (p.Asn2198Thr) c.6293A>C (p.Asn2098Thr) c.3557A>C (p.Asn1186Thr) c.2450A>C (p.Asn817Thr) c.6476A>C (p.Asn2159Thr) c.2228A>C (p.Asn743Thr) c.5456A>C (p.Asn1819Thr) | |
8 | g.99717312A>G | CA4824036 | VPS13B | c.6671A>G (p.Asn2224Ser) n.6741A>G c.*2353A>G (n.*2353A>G) c.6596A>G (p.Asn2199Ser) c.6668A>G (p.Asn2223Ser) c.6593A>G (p.Asn2198Ser) c.6293A>G (p.Asn2098Ser) c.3557A>G (p.Asn1186Ser) c.2450A>G (p.Asn817Ser) c.6476A>G (p.Asn2159Ser) c.2228A>G (p.Asn743Ser) c.5456A>G (p.Asn1819Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717312A>T | CA371867381 | VPS13B | c.6671A>T (p.Asn2224Ile) n.6741A>T c.*2353A>T (n.*2353A>T) c.6596A>T (p.Asn2199Ile) c.6668A>T (p.Asn2223Ile) c.6593A>T (p.Asn2198Ile) c.6293A>T (p.Asn2098Ile) c.3557A>T (p.Asn1186Ile) c.2450A>T (p.Asn817Ile) c.6476A>T (p.Asn2159Ile) c.2228A>T (p.Asn743Ile) c.5456A>T (p.Asn1819Ile) | |
8 | g.99717313T>A | CA371867383 | VPS13B | c.6672T>A (p.Asn2224Lys) n.6742T>A c.*2354T>A (n.*2354T>A) c.6597T>A (p.Asn2199Lys) c.6669T>A (p.Asn2223Lys) c.6594T>A (p.Asn2198Lys) c.6294T>A (p.Asn2098Lys) c.3558T>A (p.Asn1186Lys) c.2451T>A (p.Asn817Lys) c.6477T>A (p.Asn2159Lys) c.2229T>A (p.Asn743Lys) c.5457T>A (p.Asn1819Lys) | |
8 | g.99717313T>C | CA462440285 | VPS13B | c.6672T>C (p.Asn2224=) n.6742T>C c.*2354T>C (n.*2354T>C) c.6597T>C (p.Asn2199=) c.6669T>C (p.Asn2223=) c.6594T>C (p.Asn2198=) c.6294T>C (p.Asn2098=) c.3558T>C (p.Asn1186=) c.2451T>C (p.Asn817=) c.6477T>C (p.Asn2159=) c.2229T>C (p.Asn743=) c.5457T>C (p.Asn1819=) | |
8 | g.99717313T>G | CA371867382 | VPS13B | c.6672T>G (p.Asn2224Lys) n.6742T>G c.*2354T>G (n.*2354T>G) c.6597T>G (p.Asn2199Lys) c.6669T>G (p.Asn2223Lys) c.6594T>G (p.Asn2198Lys) c.6294T>G (p.Asn2098Lys) c.3558T>G (p.Asn1186Lys) c.2451T>G (p.Asn817Lys) c.6477T>G (p.Asn2159Lys) c.2229T>G (p.Asn743Lys) c.5457T>G (p.Asn1819Lys) | |
8 | g.99717314C>A | CA371867384 | VPS13B | c.6673C>A (p.Pro2225Thr) n.6743C>A c.*2355C>A (n.*2355C>A) c.6598C>A (p.Pro2200Thr) c.6670C>A (p.Pro2224Thr) c.6595C>A (p.Pro2199Thr) c.6295C>A (p.Pro2099Thr) c.3559C>A (p.Pro1187Thr) c.2452C>A (p.Pro818Thr) c.6478C>A (p.Pro2160Thr) c.2230C>A (p.Pro744Thr) c.5458C>A (p.Pro1820Thr) | |
8 | g.99717314C>G | CA4824037 | VPS13B | c.6673C>G (p.Pro2225Ala) n.6743C>G c.*2355C>G (n.*2355C>G) c.6598C>G (p.Pro2200Ala) c.6670C>G (p.Pro2224Ala) c.6595C>G (p.Pro2199Ala) c.6295C>G (p.Pro2099Ala) c.3559C>G (p.Pro1187Ala) c.2452C>G (p.Pro818Ala) c.6478C>G (p.Pro2160Ala) c.2230C>G (p.Pro744Ala) c.5458C>G (p.Pro1820Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717314C>T | CA371867385 | VPS13B | c.6673C>T (p.Pro2225Ser) n.6743C>T c.*2355C>T (n.*2355C>T) c.6598C>T (p.Pro2200Ser) c.6670C>T (p.Pro2224Ser) c.6595C>T (p.Pro2199Ser) c.6295C>T (p.Pro2099Ser) c.3559C>T (p.Pro1187Ser) c.2452C>T (p.Pro818Ser) c.6478C>T (p.Pro2160Ser) c.2230C>T (p.Pro744Ser) c.5458C>T (p.Pro1820Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717315C>A | CA371867386 | VPS13B | c.6674C>A (p.Pro2225Gln) n.6744C>A c.*2356C>A (n.*2356C>A) c.6599C>A (p.Pro2200Gln) c.6671C>A (p.Pro2224Gln) c.6596C>A (p.Pro2199Gln) c.6296C>A (p.Pro2099Gln) c.3560C>A (p.Pro1187Gln) c.2453C>A (p.Pro818Gln) c.6479C>A (p.Pro2160Gln) c.2231C>A (p.Pro744Gln) c.5459C>A (p.Pro1820Gln) | |
8 | g.99717315C>G | CA371867387 | VPS13B | c.6674C>G (p.Pro2225Arg) n.6744C>G c.*2356C>G (n.*2356C>G) c.6599C>G (p.Pro2200Arg) c.6671C>G (p.Pro2224Arg) c.6596C>G (p.Pro2199Arg) c.6296C>G (p.Pro2099Arg) c.3560C>G (p.Pro1187Arg) c.2453C>G (p.Pro818Arg) c.6479C>G (p.Pro2160Arg) c.2231C>G (p.Pro744Arg) c.5459C>G (p.Pro1820Arg) | COSMIC COSMIC |
8 | g.99717315C>T | CA371867388 | VPS13B | c.6674C>T (p.Pro2225Leu) n.6744C>T c.*2356C>T (n.*2356C>T) c.6599C>T (p.Pro2200Leu) c.6671C>T (p.Pro2224Leu) c.6596C>T (p.Pro2199Leu) c.6296C>T (p.Pro2099Leu) c.3560C>T (p.Pro1187Leu) c.2453C>T (p.Pro818Leu) c.6479C>T (p.Pro2160Leu) c.2231C>T (p.Pro744Leu) c.5459C>T (p.Pro1820Leu) | |
8 | g.99717316A>C | CA462440286 | VPS13B | c.6675A>C (p.Pro2225=) n.6745A>C c.*2357A>C (n.*2357A>C) c.6600A>C (p.Pro2200=) c.6672A>C (p.Pro2224=) c.6597A>C (p.Pro2199=) c.6297A>C (p.Pro2099=) c.3561A>C (p.Pro1187=) c.2454A>C (p.Pro818=) c.6480A>C (p.Pro2160=) c.2232A>C (p.Pro744=) c.5460A>C (p.Pro1820=) | ClinVar dbSNP |
8 | g.99717316A>G | CA462440287 | VPS13B | c.6675A>G (p.Pro2225=) n.6745A>G c.*2357A>G (n.*2357A>G) c.6600A>G (p.Pro2200=) c.6672A>G (p.Pro2224=) c.6597A>G (p.Pro2199=) c.6297A>G (p.Pro2099=) c.3561A>G (p.Pro1187=) c.2454A>G (p.Pro818=) c.6480A>G (p.Pro2160=) c.2232A>G (p.Pro744=) c.5460A>G (p.Pro1820=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717316A>T | CA462440288 | VPS13B | c.6675A>T (p.Pro2225=) n.6745A>T c.*2357A>T (n.*2357A>T) c.6600A>T (p.Pro2200=) c.6672A>T (p.Pro2224=) c.6597A>T (p.Pro2199=) c.6297A>T (p.Pro2099=) c.3561A>T (p.Pro1187=) c.2454A>T (p.Pro818=) c.6480A>T (p.Pro2160=) c.2232A>T (p.Pro744=) c.5460A>T (p.Pro1820=) | gnomAD v4 |
8 | g.99717317G>A | CA371867389 | VPS13B | c.6676G>A (p.Gly2226Ser) n.6746G>A c.*2358G>A (n.*2358G>A) c.6601G>A (p.Gly2201Ser) c.6673G>A (p.Gly2225Ser) c.6598G>A (p.Gly2200Ser) c.6298G>A (p.Gly2100Ser) c.3562G>A (p.Gly1188Ser) c.2455G>A (p.Gly819Ser) c.6481G>A (p.Gly2161Ser) c.2233G>A (p.Gly745Ser) c.5461G>A (p.Gly1821Ser) | |
8 | g.99717317G>C | CA371867390 | VPS13B | c.6676G>C (p.Gly2226Arg) n.6746G>C c.*2358G>C (n.*2358G>C) c.6601G>C (p.Gly2201Arg) c.6673G>C (p.Gly2225Arg) c.6598G>C (p.Gly2200Arg) c.6298G>C (p.Gly2100Arg) c.3562G>C (p.Gly1188Arg) c.2455G>C (p.Gly819Arg) c.6481G>C (p.Gly2161Arg) c.2233G>C (p.Gly745Arg) c.5461G>C (p.Gly1821Arg) | |
8 | g.99717317G>T | CA371867391 | VPS13B | c.6676G>T (p.Gly2226Cys) n.6746G>T c.*2358G>T (n.*2358G>T) c.6601G>T (p.Gly2201Cys) c.6673G>T (p.Gly2225Cys) c.6598G>T (p.Gly2200Cys) c.6298G>T (p.Gly2100Cys) c.3562G>T (p.Gly1188Cys) c.2455G>T (p.Gly819Cys) c.6481G>T (p.Gly2161Cys) c.2233G>T (p.Gly745Cys) c.5461G>T (p.Gly1821Cys) | COSMIC COSMIC |
8 | g.99717318G>A | CA183029006 | VPS13B | c.6677G>A (p.Gly2226Asp) n.6747G>A c.*2359G>A (n.*2359G>A) c.6602G>A (p.Gly2201Asp) c.6674G>A (p.Gly2225Asp) c.6599G>A (p.Gly2200Asp) c.6299G>A (p.Gly2100Asp) c.3563G>A (p.Gly1188Asp) c.2456G>A (p.Gly819Asp) c.6482G>A (p.Gly2161Asp) c.2234G>A (p.Gly745Asp) c.5462G>A (p.Gly1821Asp) | dbSNP gnomAD v4 |
8 | g.99717318G>C | CA371867392 | VPS13B | c.6677G>C (p.Gly2226Ala) n.6747G>C c.*2359G>C (n.*2359G>C) c.6602G>C (p.Gly2201Ala) c.6674G>C (p.Gly2225Ala) c.6599G>C (p.Gly2200Ala) c.6299G>C (p.Gly2100Ala) c.3563G>C (p.Gly1188Ala) c.2456G>C (p.Gly819Ala) c.6482G>C (p.Gly2161Ala) c.2234G>C (p.Gly745Ala) c.5462G>C (p.Gly1821Ala) | |
8 | g.99717318G>T | CA4824038 | VPS13B | c.6677G>T (p.Gly2226Val) n.6747G>T c.*2359G>T (n.*2359G>T) c.6602G>T (p.Gly2201Val) c.6674G>T (p.Gly2225Val) c.6599G>T (p.Gly2200Val) c.6299G>T (p.Gly2100Val) c.3563G>T (p.Gly1188Val) c.2456G>T (p.Gly819Val) c.6482G>T (p.Gly2161Val) c.2234G>T (p.Gly745Val) c.5462G>T (p.Gly1821Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717319C>A | CA462440289 | VPS13B | c.6678C>A (p.Gly2226=) n.6748C>A c.*2360C>A (n.*2360C>A) c.6603C>A (p.Gly2201=) c.6675C>A (p.Gly2225=) c.6600C>A (p.Gly2200=) c.6300C>A (p.Gly2100=) c.3564C>A (p.Gly1188=) c.2457C>A (p.Gly819=) c.6483C>A (p.Gly2161=) c.2235C>A (p.Gly745=) c.5463C>A (p.Gly1821=) | |
8 | g.99717319C>G | CA462440290 | VPS13B | c.6678C>G (p.Gly2226=) n.6748C>G c.*2360C>G (n.*2360C>G) c.6603C>G (p.Gly2201=) c.6675C>G (p.Gly2225=) c.6600C>G (p.Gly2200=) c.6300C>G (p.Gly2100=) c.3564C>G (p.Gly1188=) c.2457C>G (p.Gly819=) c.6483C>G (p.Gly2161=) c.2235C>G (p.Gly745=) c.5463C>G (p.Gly1821=) | |
8 | g.99717319C>T | CA462440291 | VPS13B | c.6678C>T (p.Gly2226=) n.6748C>T c.*2360C>T (n.*2360C>T) c.6603C>T (p.Gly2201=) c.6675C>T (p.Gly2225=) c.6600C>T (p.Gly2200=) c.6300C>T (p.Gly2100=) c.3564C>T (p.Gly1188=) c.2457C>T (p.Gly819=) c.6483C>T (p.Gly2161=) c.2235C>T (p.Gly745=) c.5463C>T (p.Gly1821=) | |
8 | g.99717320C>A | CA371867393 | VPS13B | c.6679C>A (p.Pro2227Thr) n.6749C>A c.*2361C>A (n.*2361C>A) c.6604C>A (p.Pro2202Thr) c.6676C>A (p.Pro2226Thr) c.6601C>A (p.Pro2201Thr) c.6301C>A (p.Pro2101Thr) c.3565C>A (p.Pro1189Thr) c.2458C>A (p.Pro820Thr) c.6484C>A (p.Pro2162Thr) c.2236C>A (p.Pro746Thr) c.5464C>A (p.Pro1822Thr) | |
8 | g.99717320C>G | CA371867395 | VPS13B | c.6679C>G (p.Pro2227Ala) n.6749C>G c.*2361C>G (n.*2361C>G) c.6604C>G (p.Pro2202Ala) c.6676C>G (p.Pro2226Ala) c.6601C>G (p.Pro2201Ala) c.6301C>G (p.Pro2101Ala) c.3565C>G (p.Pro1189Ala) c.2458C>G (p.Pro820Ala) c.6484C>G (p.Pro2162Ala) c.2236C>G (p.Pro746Ala) c.5464C>G (p.Pro1822Ala) | |
8 | g.99717320C>T | CA371867394 | VPS13B | c.6679C>T (p.Pro2227Ser) n.6749C>T c.*2361C>T (n.*2361C>T) c.6604C>T (p.Pro2202Ser) c.6676C>T (p.Pro2226Ser) c.6601C>T (p.Pro2201Ser) c.6301C>T (p.Pro2101Ser) c.3565C>T (p.Pro1189Ser) c.2458C>T (p.Pro820Ser) c.6484C>T (p.Pro2162Ser) c.2236C>T (p.Pro746Ser) c.5464C>T (p.Pro1822Ser) | |
8 | g.99717321C>A | CA371867396 | VPS13B | c.6680C>A (p.Pro2227Gln) n.6750C>A c.*2362C>A (n.*2362C>A) c.6605C>A (p.Pro2202Gln) c.6677C>A (p.Pro2226Gln) c.6602C>A (p.Pro2201Gln) c.6302C>A (p.Pro2101Gln) c.3566C>A (p.Pro1189Gln) c.2459C>A (p.Pro820Gln) c.6485C>A (p.Pro2162Gln) c.2237C>A (p.Pro746Gln) c.5465C>A (p.Pro1822Gln) | |
8 | g.99717321C>G | CA371867397 | VPS13B | c.6680C>G (p.Pro2227Arg) n.6750C>G c.*2362C>G (n.*2362C>G) c.6605C>G (p.Pro2202Arg) c.6677C>G (p.Pro2226Arg) c.6602C>G (p.Pro2201Arg) c.6302C>G (p.Pro2101Arg) c.3566C>G (p.Pro1189Arg) c.2459C>G (p.Pro820Arg) c.6485C>G (p.Pro2162Arg) c.2237C>G (p.Pro746Arg) c.5465C>G (p.Pro1822Arg) | |
8 | g.99717321C>T | CA371867398 | VPS13B | c.6680C>T (p.Pro2227Leu) n.6750C>T c.*2362C>T (n.*2362C>T) c.6605C>T (p.Pro2202Leu) c.6677C>T (p.Pro2226Leu) c.6602C>T (p.Pro2201Leu) c.6302C>T (p.Pro2101Leu) c.3566C>T (p.Pro1189Leu) c.2459C>T (p.Pro820Leu) c.6485C>T (p.Pro2162Leu) c.2237C>T (p.Pro746Leu) c.5465C>T (p.Pro1822Leu) | |
8 | g.99717322A>C | CA462440294 | VPS13B | c.6681A>C (p.Pro2227=) n.6751A>C c.*2363A>C (n.*2363A>C) c.6606A>C (p.Pro2202=) c.6678A>C (p.Pro2226=) c.6603A>C (p.Pro2201=) c.6303A>C (p.Pro2101=) c.3567A>C (p.Pro1189=) c.2460A>C (p.Pro820=) c.6486A>C (p.Pro2162=) c.2238A>C (p.Pro746=) c.5466A>C (p.Pro1822=) | |
8 | g.99717322A>G | CA462440295 | VPS13B | c.6681A>G (p.Pro2227=) n.6751A>G c.*2363A>G (n.*2363A>G) c.6606A>G (p.Pro2202=) c.6678A>G (p.Pro2226=) c.6603A>G (p.Pro2201=) c.6303A>G (p.Pro2101=) c.3567A>G (p.Pro1189=) c.2460A>G (p.Pro820=) c.6486A>G (p.Pro2162=) c.2238A>G (p.Pro746=) c.5466A>G (p.Pro1822=) | gnomAD v4 |
8 | g.99717322A>T | CA462440293 | VPS13B | c.6681A>T (p.Pro2227=) n.6751A>T c.*2363A>T (n.*2363A>T) c.6606A>T (p.Pro2202=) c.6678A>T (p.Pro2226=) c.6603A>T (p.Pro2201=) c.6303A>T (p.Pro2101=) c.3567A>T (p.Pro1189=) c.2460A>T (p.Pro820=) c.6486A>T (p.Pro2162=) c.2238A>T (p.Pro746=) c.5466A>T (p.Pro1822=) | |
8 | g.99717323G>A | CA4824039 | VPS13B | c.6682G>A (p.Glu2228Lys) n.6752G>A c.*2364G>A (n.*2364G>A) c.6607G>A (p.Glu2203Lys) c.6679G>A (p.Glu2227Lys) c.6604G>A (p.Glu2202Lys) c.6304G>A (p.Glu2102Lys) c.3568G>A (p.Glu1190Lys) c.2461G>A (p.Glu821Lys) c.6487G>A (p.Glu2163Lys) c.2239G>A (p.Glu747Lys) c.5467G>A (p.Glu1823Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717323G>C | CA371867399 | VPS13B | c.6682G>C (p.Glu2228Gln) n.6752G>C c.*2364G>C (n.*2364G>C) c.6607G>C (p.Glu2203Gln) c.6679G>C (p.Glu2227Gln) c.6604G>C (p.Glu2202Gln) c.6304G>C (p.Glu2102Gln) c.3568G>C (p.Glu1190Gln) c.2461G>C (p.Glu821Gln) c.6487G>C (p.Glu2163Gln) c.2239G>C (p.Glu747Gln) c.5467G>C (p.Glu1823Gln) | COSMIC COSMIC |
8 | g.99717323G>T | CA371867400 | VPS13B | c.6682G>T (p.Glu2228Ter) n.6752G>T c.*2364G>T (n.*2364G>T) c.6607G>T (p.Glu2203Ter) c.6679G>T (p.Glu2227Ter) c.6604G>T (p.Glu2202Ter) c.6304G>T (p.Glu2102Ter) c.3568G>T (p.Glu1190Ter) c.2461G>T (p.Glu821Ter) c.6487G>T (p.Glu2163Ter) c.2239G>T (p.Glu747Ter) c.5467G>T (p.Glu1823Ter) | COSMIC COSMIC |
8 | g.99717324A>C | CA371867403 | VPS13B | c.6683A>C (p.Glu2228Ala) n.6753A>C c.*2365A>C (n.*2365A>C) c.6608A>C (p.Glu2203Ala) c.6680A>C (p.Glu2227Ala) c.6605A>C (p.Glu2202Ala) c.6305A>C (p.Glu2102Ala) c.3569A>C (p.Glu1190Ala) c.2462A>C (p.Glu821Ala) c.6488A>C (p.Glu2163Ala) c.2240A>C (p.Glu747Ala) c.5468A>C (p.Glu1823Ala) | |
8 | g.99717324A>G | CA371867401 | VPS13B | c.6683A>G (p.Glu2228Gly) n.6753A>G c.*2365A>G (n.*2365A>G) c.6608A>G (p.Glu2203Gly) c.6680A>G (p.Glu2227Gly) c.6605A>G (p.Glu2202Gly) c.6305A>G (p.Glu2102Gly) c.3569A>G (p.Glu1190Gly) c.2462A>G (p.Glu821Gly) c.6488A>G (p.Glu2163Gly) c.2240A>G (p.Glu747Gly) c.5468A>G (p.Glu1823Gly) | |
8 | g.99717324A>T | CA371867402 | VPS13B | c.6683A>T (p.Glu2228Val) n.6753A>T c.*2365A>T (n.*2365A>T) c.6608A>T (p.Glu2203Val) c.6680A>T (p.Glu2227Val) c.6605A>T (p.Glu2202Val) c.6305A>T (p.Glu2102Val) c.3569A>T (p.Glu1190Val) c.2462A>T (p.Glu821Val) c.6488A>T (p.Glu2163Val) c.2240A>T (p.Glu747Val) c.5468A>T (p.Glu1823Val) | |
8 | g.99717325A>C | CA371867404 | VPS13B | c.6684A>C (p.Glu2228Asp) n.6754A>C c.*2366A>C (n.*2366A>C) c.6609A>C (p.Glu2203Asp) c.6681A>C (p.Glu2227Asp) c.6606A>C (p.Glu2202Asp) c.6306A>C (p.Glu2102Asp) c.3570A>C (p.Glu1190Asp) c.2463A>C (p.Glu821Asp) c.6489A>C (p.Glu2163Asp) c.2241A>C (p.Glu747Asp) c.5469A>C (p.Glu1823Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717325A>G | CA462440296 | VPS13B | c.6684A>G (p.Glu2228=) n.6754A>G c.*2366A>G (n.*2366A>G) c.6609A>G (p.Glu2203=) c.6681A>G (p.Glu2227=) c.6606A>G (p.Glu2202=) c.6306A>G (p.Glu2102=) c.3570A>G (p.Glu1190=) c.2463A>G (p.Glu821=) c.6489A>G (p.Glu2163=) c.2241A>G (p.Glu747=) c.5469A>G (p.Glu1823=) | |
8 | g.99717325A>T | CA371867405 | VPS13B | c.6684A>T (p.Glu2228Asp) n.6754A>T c.*2366A>T (n.*2366A>T) c.6609A>T (p.Glu2203Asp) c.6681A>T (p.Glu2227Asp) c.6606A>T (p.Glu2202Asp) c.6306A>T (p.Glu2102Asp) c.3570A>T (p.Glu1190Asp) c.2463A>T (p.Glu821Asp) c.6489A>T (p.Glu2163Asp) c.2241A>T (p.Glu747Asp) c.5469A>T (p.Glu1823Asp) | |
8 | g.99717326C>A | CA371867406 | VPS13B | c.6685C>A (p.Gln2229Lys) n.6755C>A c.*2367C>A (n.*2367C>A) c.6610C>A (p.Gln2204Lys) c.6682C>A (p.Gln2228Lys) c.6607C>A (p.Gln2203Lys) c.6307C>A (p.Gln2103Lys) c.3571C>A (p.Gln1191Lys) c.2464C>A (p.Gln822Lys) c.6490C>A (p.Gln2164Lys) c.2242C>A (p.Gln748Lys) c.5470C>A (p.Gln1824Lys) | dbSNP |
8 | g.99717326C>G | CA371867407 | VPS13B | c.6685C>G (p.Gln2229Glu) n.6755C>G c.*2367C>G (n.*2367C>G) c.6610C>G (p.Gln2204Glu) c.6682C>G (p.Gln2228Glu) c.6607C>G (p.Gln2203Glu) c.6307C>G (p.Gln2103Glu) c.3571C>G (p.Gln1191Glu) c.2464C>G (p.Gln822Glu) c.6490C>G (p.Gln2164Glu) c.2242C>G (p.Gln748Glu) c.5470C>G (p.Gln1824Glu) | |
8 | g.99717326C>T | CA371867408 | VPS13B | c.6685C>T (p.Gln2229Ter) n.6755C>T c.*2367C>T (n.*2367C>T) c.6610C>T (p.Gln2204Ter) c.6682C>T (p.Gln2228Ter) c.6607C>T (p.Gln2203Ter) c.6307C>T (p.Gln2103Ter) c.3571C>T (p.Gln1191Ter) c.2464C>T (p.Gln822Ter) c.6490C>T (p.Gln2164Ter) c.2242C>T (p.Gln748Ter) c.5470C>T (p.Gln1824Ter) | dbSNP gnomAD v4 |
8 | g.99717327A>C | CA371867411 | VPS13B | c.6686A>C (p.Gln2229Pro) n.6756A>C c.*2368A>C (n.*2368A>C) c.6611A>C (p.Gln2204Pro) c.6683A>C (p.Gln2228Pro) c.6608A>C (p.Gln2203Pro) c.6308A>C (p.Gln2103Pro) c.3572A>C (p.Gln1191Pro) c.2465A>C (p.Gln822Pro) c.6491A>C (p.Gln2164Pro) c.2243A>C (p.Gln748Pro) c.5471A>C (p.Gln1824Pro) | |
8 | g.99717327A>G | CA371867409 | VPS13B | c.6686A>G (p.Gln2229Arg) n.6756A>G c.*2368A>G (n.*2368A>G) c.6611A>G (p.Gln2204Arg) c.6683A>G (p.Gln2228Arg) c.6608A>G (p.Gln2203Arg) c.6308A>G (p.Gln2103Arg) c.3572A>G (p.Gln1191Arg) c.2465A>G (p.Gln822Arg) c.6491A>G (p.Gln2164Arg) c.2243A>G (p.Gln748Arg) c.5471A>G (p.Gln1824Arg) | gnomAD v4 |
8 | g.99717327A>T | CA371867410 | VPS13B | c.6686A>T (p.Gln2229Leu) n.6756A>T c.*2368A>T (n.*2368A>T) c.6611A>T (p.Gln2204Leu) c.6683A>T (p.Gln2228Leu) c.6608A>T (p.Gln2203Leu) c.6308A>T (p.Gln2103Leu) c.3572A>T (p.Gln1191Leu) c.2465A>T (p.Gln822Leu) c.6491A>T (p.Gln2164Leu) c.2243A>T (p.Gln748Leu) c.5471A>T (p.Gln1824Leu) | |
8 | g.99717328del | CA264112 | VPS13B | c.6687del (p.Gln2229HisfsTer10) n.6757del c.*2369del (n.*2369del) c.6612del (p.Gln2204HisfsTer10) c.6684del (p.Gln2228HisfsTer10) c.6609del (p.Gln2203HisfsTer10) c.6309del (p.Gln2103HisfsTer10) c.3573del (p.Gln1191HisfsTer10) c.2466del (p.Gln822HisfsTer10) c.6492del (p.Gln2164HisfsTer10) c.2244del (p.Gln748HisfsTer10) c.5472del (p.Gln1824HisfsTer10) | ClinVar dbSNP |
8 | g.99717328A>C | CA371867412 | VPS13B | c.6687A>C (p.Gln2229His) n.6757A>C c.*2369A>C (n.*2369A>C) c.6612A>C (p.Gln2204His) c.6684A>C (p.Gln2228His) c.6609A>C (p.Gln2203His) c.6309A>C (p.Gln2103His) c.3573A>C (p.Gln1191His) c.2466A>C (p.Gln822His) c.6492A>C (p.Gln2164His) c.2244A>C (p.Gln748His) c.5472A>C (p.Gln1824His) | |
8 | g.99717328A>G | CA4824040 | VPS13B | c.6687A>G (p.Gln2229=) n.6757A>G c.*2369A>G (n.*2369A>G) c.6612A>G (p.Gln2204=) c.6684A>G (p.Gln2228=) c.6609A>G (p.Gln2203=) c.6309A>G (p.Gln2103=) c.3573A>G (p.Gln1191=) c.2466A>G (p.Gln822=) c.6492A>G (p.Gln2164=) c.2244A>G (p.Gln748=) c.5472A>G (p.Gln1824=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717328A>T | CA371867413 | VPS13B | c.6687A>T (p.Gln2229His) n.6757A>T c.*2369A>T (n.*2369A>T) c.6612A>T (p.Gln2204His) c.6684A>T (p.Gln2228His) c.6609A>T (p.Gln2203His) c.6309A>T (p.Gln2103His) c.3573A>T (p.Gln1191His) c.2466A>T (p.Gln822His) c.6492A>T (p.Gln2164His) c.2244A>T (p.Gln748His) c.5472A>T (p.Gln1824His) | |
8 | g.99717329T>A | CA371867414 | VPS13B | c.6688T>A (p.Ser2230Thr) n.6758T>A c.*2370T>A (n.*2370T>A) c.6613T>A (p.Ser2205Thr) c.6685T>A (p.Ser2229Thr) c.6610T>A (p.Ser2204Thr) c.6310T>A (p.Ser2104Thr) c.3574T>A (p.Ser1192Thr) c.2467T>A (p.Ser823Thr) c.6493T>A (p.Ser2165Thr) c.2245T>A (p.Ser749Thr) c.5473T>A (p.Ser1825Thr) | |
8 | g.99717329T>C | CA371867415 | VPS13B | c.6688T>C (p.Ser2230Pro) n.6758T>C c.*2370T>C (n.*2370T>C) c.6613T>C (p.Ser2205Pro) c.6685T>C (p.Ser2229Pro) c.6610T>C (p.Ser2204Pro) c.6310T>C (p.Ser2104Pro) c.3574T>C (p.Ser1192Pro) c.2467T>C (p.Ser823Pro) c.6493T>C (p.Ser2165Pro) c.2245T>C (p.Ser749Pro) c.5473T>C (p.Ser1825Pro) | |
8 | g.99717329T>G | CA371867416 | VPS13B | c.6688T>G (p.Ser2230Ala) n.6758T>G c.*2370T>G (n.*2370T>G) c.6613T>G (p.Ser2205Ala) c.6685T>G (p.Ser2229Ala) c.6610T>G (p.Ser2204Ala) c.6310T>G (p.Ser2104Ala) c.3574T>G (p.Ser1192Ala) c.2467T>G (p.Ser823Ala) c.6493T>G (p.Ser2165Ala) c.2245T>G (p.Ser749Ala) c.5473T>G (p.Ser1825Ala) | |
8 | g.99717330C>A | CA371867417 | VPS13B | c.6689C>A (p.Ser2230Tyr) n.6759C>A c.*2371C>A (n.*2371C>A) c.6614C>A (p.Ser2205Tyr) c.6686C>A (p.Ser2229Tyr) c.6611C>A (p.Ser2204Tyr) c.6311C>A (p.Ser2104Tyr) c.3575C>A (p.Ser1192Tyr) c.2468C>A (p.Ser823Tyr) c.6494C>A (p.Ser2165Tyr) c.2246C>A (p.Ser749Tyr) c.5474C>A (p.Ser1825Tyr) | |
8 | g.99717330C>G | CA371867418 | VPS13B | c.6689C>G (p.Ser2230Cys) n.6759C>G c.*2371C>G (n.*2371C>G) c.6614C>G (p.Ser2205Cys) c.6686C>G (p.Ser2229Cys) c.6611C>G (p.Ser2204Cys) c.6311C>G (p.Ser2104Cys) c.3575C>G (p.Ser1192Cys) c.2468C>G (p.Ser823Cys) c.6494C>G (p.Ser2165Cys) c.2246C>G (p.Ser749Cys) c.5474C>G (p.Ser1825Cys) | |
8 | g.99717330C>T | CA371867419 | VPS13B | c.6689C>T (p.Ser2230Phe) n.6759C>T c.*2371C>T (n.*2371C>T) c.6614C>T (p.Ser2205Phe) c.6686C>T (p.Ser2229Phe) c.6611C>T (p.Ser2204Phe) c.6311C>T (p.Ser2104Phe) c.3575C>T (p.Ser1192Phe) c.2468C>T (p.Ser823Phe) c.6494C>T (p.Ser2165Phe) c.2246C>T (p.Ser749Phe) c.5474C>T (p.Ser1825Phe) | |
8 | g.99717331C>A | CA462440297 | VPS13B | c.6690C>A (p.Ser2230=) n.6760C>A c.*2372C>A (n.*2372C>A) c.6615C>A (p.Ser2205=) c.6687C>A (p.Ser2229=) c.6612C>A (p.Ser2204=) c.6312C>A (p.Ser2104=) c.3576C>A (p.Ser1192=) c.2469C>A (p.Ser823=) c.6495C>A (p.Ser2165=) c.2247C>A (p.Ser749=) c.5475C>A (p.Ser1825=) | |
8 | g.99717331C>G | CA462440298 | VPS13B | c.6690C>G (p.Ser2230=) n.6760C>G c.*2372C>G (n.*2372C>G) c.6615C>G (p.Ser2205=) c.6687C>G (p.Ser2229=) c.6612C>G (p.Ser2204=) c.6312C>G (p.Ser2104=) c.3576C>G (p.Ser1192=) c.2469C>G (p.Ser823=) c.6495C>G (p.Ser2165=) c.2247C>G (p.Ser749=) c.5475C>G (p.Ser1825=) | |
8 | g.99717331C>T | CA462440299 | VPS13B | c.6690C>T (p.Ser2230=) n.6760C>T c.*2372C>T (n.*2372C>T) c.6615C>T (p.Ser2205=) c.6687C>T (p.Ser2229=) c.6612C>T (p.Ser2204=) c.6312C>T (p.Ser2104=) c.3576C>T (p.Ser1192=) c.2469C>T (p.Ser823=) c.6495C>T (p.Ser2165=) c.2247C>T (p.Ser749=) c.5475C>T (p.Ser1825=) | |
8 | g.99717332A>C | CA371867420 | VPS13B | c.6691A>C (p.Ile2231Leu) n.6761A>C c.*2373A>C (n.*2373A>C) c.6616A>C (p.Ile2206Leu) c.6688A>C (p.Ile2230Leu) c.6613A>C (p.Ile2205Leu) c.6313A>C (p.Ile2105Leu) c.3577A>C (p.Ile1193Leu) c.2470A>C (p.Ile824Leu) c.6496A>C (p.Ile2166Leu) c.2248A>C (p.Ile750Leu) c.5476A>C (p.Ile1826Leu) | |
8 | g.99717332A>G | CA371867421 | VPS13B | c.6691A>G (p.Ile2231Val) n.6761A>G c.*2373A>G (n.*2373A>G) c.6616A>G (p.Ile2206Val) c.6688A>G (p.Ile2230Val) c.6613A>G (p.Ile2205Val) c.6313A>G (p.Ile2105Val) c.3577A>G (p.Ile1193Val) c.2470A>G (p.Ile824Val) c.6496A>G (p.Ile2166Val) c.2248A>G (p.Ile750Val) c.5476A>G (p.Ile1826Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717332A>T | CA371867422 | VPS13B | c.6691A>T (p.Ile2231Leu) n.6761A>T c.*2373A>T (n.*2373A>T) c.6616A>T (p.Ile2206Leu) c.6688A>T (p.Ile2230Leu) c.6613A>T (p.Ile2205Leu) c.6313A>T (p.Ile2105Leu) c.3577A>T (p.Ile1193Leu) c.2470A>T (p.Ile824Leu) c.6496A>T (p.Ile2166Leu) c.2248A>T (p.Ile750Leu) c.5476A>T (p.Ile1826Leu) | |
8 | g.99717333T>A | CA371867425 | VPS13B | c.6692T>A (p.Ile2231Lys) n.6762T>A c.*2374T>A (n.*2374T>A) c.6617T>A (p.Ile2206Lys) c.6689T>A (p.Ile2230Lys) c.6614T>A (p.Ile2205Lys) c.6314T>A (p.Ile2105Lys) c.3578T>A (p.Ile1193Lys) c.2471T>A (p.Ile824Lys) c.6497T>A (p.Ile2166Lys) c.2249T>A (p.Ile750Lys) c.5477T>A (p.Ile1826Lys) | |
8 | g.99717333T>C | CA371867423 | VPS13B | c.6692T>C (p.Ile2231Thr) n.6762T>C c.*2374T>C (n.*2374T>C) c.6617T>C (p.Ile2206Thr) c.6689T>C (p.Ile2230Thr) c.6614T>C (p.Ile2205Thr) c.6314T>C (p.Ile2105Thr) c.3578T>C (p.Ile1193Thr) c.2471T>C (p.Ile824Thr) c.6497T>C (p.Ile2166Thr) c.2249T>C (p.Ile750Thr) c.5477T>C (p.Ile1826Thr) | |
8 | g.99717333T>G | CA371867424 | VPS13B | c.6692T>G (p.Ile2231Arg) n.6762T>G c.*2374T>G (n.*2374T>G) c.6617T>G (p.Ile2206Arg) c.6689T>G (p.Ile2230Arg) c.6614T>G (p.Ile2205Arg) c.6314T>G (p.Ile2105Arg) c.3578T>G (p.Ile1193Arg) c.2471T>G (p.Ile824Arg) c.6497T>G (p.Ile2166Arg) c.2249T>G (p.Ile750Arg) c.5477T>G (p.Ile1826Arg) | |
8 | g.99717334A>C | CA462440300 | VPS13B | c.6693A>C (p.Ile2231=) n.6763A>C c.*2375A>C (n.*2375A>C) c.6618A>C (p.Ile2206=) c.6690A>C (p.Ile2230=) c.6615A>C (p.Ile2205=) c.6315A>C (p.Ile2105=) c.3579A>C (p.Ile1193=) c.2472A>C (p.Ile824=) c.6498A>C (p.Ile2166=) c.2250A>C (p.Ile750=) c.5478A>C (p.Ile1826=) | |
8 | g.99717334A>G | CA371867426 | VPS13B | c.6693A>G (p.Ile2231Met) n.6763A>G c.*2375A>G (n.*2375A>G) c.6618A>G (p.Ile2206Met) c.6690A>G (p.Ile2230Met) c.6615A>G (p.Ile2205Met) c.6315A>G (p.Ile2105Met) c.3579A>G (p.Ile1193Met) c.2472A>G (p.Ile824Met) c.6498A>G (p.Ile2166Met) c.2250A>G (p.Ile750Met) c.5478A>G (p.Ile1826Met) | |
8 | g.99717334A>T | CA462440301 | VPS13B | c.6693A>T (p.Ile2231=) n.6763A>T c.*2375A>T (n.*2375A>T) c.6618A>T (p.Ile2206=) c.6690A>T (p.Ile2230=) c.6615A>T (p.Ile2205=) c.6315A>T (p.Ile2105=) c.3579A>T (p.Ile1193=) c.2472A>T (p.Ile824=) c.6498A>T (p.Ile2166=) c.2250A>T (p.Ile750=) c.5478A>T (p.Ile1826=) | |
8 | g.99717335C>A | CA371867427 | VPS13B | c.6694C>A (p.Pro2232Thr) n.6764C>A c.*2376C>A (n.*2376C>A) c.6619C>A (p.Pro2207Thr) c.6691C>A (p.Pro2231Thr) c.6616C>A (p.Pro2206Thr) c.6316C>A (p.Pro2106Thr) c.3580C>A (p.Pro1194Thr) c.2473C>A (p.Pro825Thr) c.6499C>A (p.Pro2167Thr) c.2251C>A (p.Pro751Thr) c.5479C>A (p.Pro1827Thr) | |
8 | g.99717335C>G | CA371867428 | VPS13B | c.6694C>G (p.Pro2232Ala) n.6764C>G c.*2376C>G (n.*2376C>G) c.6619C>G (p.Pro2207Ala) c.6691C>G (p.Pro2231Ala) c.6616C>G (p.Pro2206Ala) c.6316C>G (p.Pro2106Ala) c.3580C>G (p.Pro1194Ala) c.2473C>G (p.Pro825Ala) c.6499C>G (p.Pro2167Ala) c.2251C>G (p.Pro751Ala) c.5479C>G (p.Pro1827Ala) | |
8 | g.99717335C>T | CA371867429 | VPS13B | c.6694C>T (p.Pro2232Ser) n.6764C>T c.*2376C>T (n.*2376C>T) c.6619C>T (p.Pro2207Ser) c.6691C>T (p.Pro2231Ser) c.6616C>T (p.Pro2206Ser) c.6316C>T (p.Pro2106Ser) c.3580C>T (p.Pro1194Ser) c.2473C>T (p.Pro825Ser) c.6499C>T (p.Pro2167Ser) c.2251C>T (p.Pro751Ser) c.5479C>T (p.Pro1827Ser) | gnomAD v4 |
8 | g.99717336C>A | CA371867430 | VPS13B | c.6695C>A (p.Pro2232Gln) n.6765C>A c.*2377C>A (n.*2377C>A) c.6620C>A (p.Pro2207Gln) c.6692C>A (p.Pro2231Gln) c.6617C>A (p.Pro2206Gln) c.6317C>A (p.Pro2106Gln) c.3581C>A (p.Pro1194Gln) c.2474C>A (p.Pro825Gln) c.6500C>A (p.Pro2167Gln) c.2252C>A (p.Pro751Gln) c.5480C>A (p.Pro1827Gln) | |
8 | g.99717336C>G | CA371867431 | VPS13B | c.6695C>G (p.Pro2232Arg) n.6765C>G c.*2377C>G (n.*2377C>G) c.6620C>G (p.Pro2207Arg) c.6692C>G (p.Pro2231Arg) c.6617C>G (p.Pro2206Arg) c.6317C>G (p.Pro2106Arg) c.3581C>G (p.Pro1194Arg) c.2474C>G (p.Pro825Arg) c.6500C>G (p.Pro2167Arg) c.2252C>G (p.Pro751Arg) c.5480C>G (p.Pro1827Arg) | |
8 | g.99717336C>T | CA371867432 | VPS13B | c.6695C>T (p.Pro2232Leu) n.6765C>T c.*2377C>T (n.*2377C>T) c.6620C>T (p.Pro2207Leu) c.6692C>T (p.Pro2231Leu) c.6617C>T (p.Pro2206Leu) c.6317C>T (p.Pro2106Leu) c.3581C>T (p.Pro1194Leu) c.2474C>T (p.Pro825Leu) c.6500C>T (p.Pro2167Leu) c.2252C>T (p.Pro751Leu) c.5480C>T (p.Pro1827Leu) | |
8 | g.99717337A>C | CA462440302 | VPS13B | c.6696A>C (p.Pro2232=) n.6766A>C c.*2378A>C (n.*2378A>C) c.6621A>C (p.Pro2207=) c.6693A>C (p.Pro2231=) c.6618A>C (p.Pro2206=) c.6318A>C (p.Pro2106=) c.3582A>C (p.Pro1194=) c.2475A>C (p.Pro825=) c.6501A>C (p.Pro2167=) c.2253A>C (p.Pro751=) c.5481A>C (p.Pro1827=) | |
8 | g.99717337A>G | CA462440303 | VPS13B | c.6696A>G (p.Pro2232=) n.6766A>G c.*2378A>G (n.*2378A>G) c.6621A>G (p.Pro2207=) c.6693A>G (p.Pro2231=) c.6618A>G (p.Pro2206=) c.6318A>G (p.Pro2106=) c.3582A>G (p.Pro1194=) c.2475A>G (p.Pro825=) c.6501A>G (p.Pro2167=) c.2253A>G (p.Pro751=) c.5481A>G (p.Pro1827=) | |
8 | g.99717337A>T | CA462440304 | VPS13B | c.6696A>T (p.Pro2232=) n.6766A>T c.*2378A>T (n.*2378A>T) c.6621A>T (p.Pro2207=) c.6693A>T (p.Pro2231=) c.6618A>T (p.Pro2206=) c.6318A>T (p.Pro2106=) c.3582A>T (p.Pro1194=) c.2475A>T (p.Pro825=) c.6501A>T (p.Pro2167=) c.2253A>T (p.Pro751=) c.5481A>T (p.Pro1827=) | |
8 | g.99717341dup | CA2499219484 | VPS13B | c.6700dup (p.Ile2234AsnfsTer4) n.6770dup c.*2382dup (n.*2382dup) c.6625dup (p.Ile2209AsnfsTer4) c.6697dup (p.Ile2233AsnfsTer4) c.6622dup (p.Ile2208AsnfsTer4) c.6322dup (p.Ile2108AsnfsTer4) c.3586dup (p.Ile1196AsnfsTer4) c.2479dup (p.Ile827AsnfsTer4) c.6505dup (p.Ile2169AsnfsTer4) c.2257dup (p.Ile753AsnfsTer4) c.5485dup (p.Ile1829AsnfsTer4) | ClinVar dbSNP |
8 | g.99717338A>C | CA371867433 | VPS13B | c.6697A>C (p.Lys2233Gln) n.6767A>C c.*2379A>C (n.*2379A>C) c.6622A>C (p.Lys2208Gln) c.6694A>C (p.Lys2232Gln) c.6619A>C (p.Lys2207Gln) c.6319A>C (p.Lys2107Gln) c.3583A>C (p.Lys1195Gln) c.2476A>C (p.Lys826Gln) c.6502A>C (p.Lys2168Gln) c.2254A>C (p.Lys752Gln) c.5482A>C (p.Lys1828Gln) | |
8 | g.99717338A>G | CA371867434 | VPS13B | c.6697A>G (p.Lys2233Glu) n.6767A>G c.*2379A>G (n.*2379A>G) c.6622A>G (p.Lys2208Glu) c.6694A>G (p.Lys2232Glu) c.6619A>G (p.Lys2207Glu) c.6319A>G (p.Lys2107Glu) c.3583A>G (p.Lys1195Glu) c.2476A>G (p.Lys826Glu) c.6502A>G (p.Lys2168Glu) c.2254A>G (p.Lys752Glu) c.5482A>G (p.Lys1828Glu) | |
8 | g.99717338A>T | CA371867435 | VPS13B | c.6697A>T (p.Lys2233Ter) n.6767A>T c.*2379A>T (n.*2379A>T) c.6622A>T (p.Lys2208Ter) c.6694A>T (p.Lys2232Ter) c.6619A>T (p.Lys2207Ter) c.6319A>T (p.Lys2107Ter) c.3583A>T (p.Lys1195Ter) c.2476A>T (p.Lys826Ter) c.6502A>T (p.Lys2168Ter) c.2254A>T (p.Lys752Ter) c.5482A>T (p.Lys1828Ter) | |
8 | g.99717339A>C | CA371867436 | VPS13B | c.6698A>C (p.Lys2233Thr) n.6768A>C c.*2380A>C (n.*2380A>C) c.6623A>C (p.Lys2208Thr) c.6695A>C (p.Lys2232Thr) c.6620A>C (p.Lys2207Thr) c.6320A>C (p.Lys2107Thr) c.3584A>C (p.Lys1195Thr) c.2477A>C (p.Lys826Thr) c.6503A>C (p.Lys2168Thr) c.2255A>C (p.Lys752Thr) c.5483A>C (p.Lys1828Thr) | |
8 | g.99717339A>G | CA371867437 | VPS13B | c.6698A>G (p.Lys2233Arg) n.6768A>G c.*2380A>G (n.*2380A>G) c.6623A>G (p.Lys2208Arg) c.6695A>G (p.Lys2232Arg) c.6620A>G (p.Lys2207Arg) c.6320A>G (p.Lys2107Arg) c.3584A>G (p.Lys1195Arg) c.2477A>G (p.Lys826Arg) c.6503A>G (p.Lys2168Arg) c.2255A>G (p.Lys752Arg) c.5483A>G (p.Lys1828Arg) | |
8 | g.99717339A>T | CA371867438 | VPS13B | c.6698A>T (p.Lys2233Ile) n.6768A>T c.*2380A>T (n.*2380A>T) c.6623A>T (p.Lys2208Ile) c.6695A>T (p.Lys2232Ile) c.6620A>T (p.Lys2207Ile) c.6320A>T (p.Lys2107Ile) c.3584A>T (p.Lys1195Ile) c.2477A>T (p.Lys826Ile) c.6503A>T (p.Lys2168Ile) c.2255A>T (p.Lys752Ile) c.5483A>T (p.Lys1828Ile) | |
8 | g.99717340A>C | CA371867440 | VPS13B | c.6699A>C (p.Lys2233Asn) n.6769A>C c.*2381A>C (n.*2381A>C) c.6624A>C (p.Lys2208Asn) c.6696A>C (p.Lys2232Asn) c.6621A>C (p.Lys2207Asn) c.6321A>C (p.Lys2107Asn) c.3585A>C (p.Lys1195Asn) c.2478A>C (p.Lys826Asn) c.6504A>C (p.Lys2168Asn) c.2256A>C (p.Lys752Asn) c.5484A>C (p.Lys1828Asn) | |
8 | g.99717340A>G | CA462440305 | VPS13B | c.6699A>G (p.Lys2233=) n.6769A>G c.*2381A>G (n.*2381A>G) c.6624A>G (p.Lys2208=) c.6696A>G (p.Lys2232=) c.6621A>G (p.Lys2207=) c.6321A>G (p.Lys2107=) c.3585A>G (p.Lys1195=) c.2478A>G (p.Lys826=) c.6504A>G (p.Lys2168=) c.2256A>G (p.Lys752=) c.5484A>G (p.Lys1828=) | gnomAD v4 |
8 | g.99717340A>T | CA371867439 | VPS13B | c.6699A>T (p.Lys2233Asn) n.6769A>T c.*2381A>T (n.*2381A>T) c.6624A>T (p.Lys2208Asn) c.6696A>T (p.Lys2232Asn) c.6621A>T (p.Lys2207Asn) c.6321A>T (p.Lys2107Asn) c.3585A>T (p.Lys1195Asn) c.2478A>T (p.Lys826Asn) c.6504A>T (p.Lys2168Asn) c.2256A>T (p.Lys752Asn) c.5484A>T (p.Lys1828Asn) | |
8 | g.99717341A>C | CA371867441 | VPS13B | c.6700A>C (p.Ile2234Leu) n.6770A>C c.*2382A>C (n.*2382A>C) c.6625A>C (p.Ile2209Leu) c.6697A>C (p.Ile2233Leu) c.6622A>C (p.Ile2208Leu) c.6322A>C (p.Ile2108Leu) c.3586A>C (p.Ile1196Leu) c.2479A>C (p.Ile827Leu) c.6505A>C (p.Ile2169Leu) c.2257A>C (p.Ile753Leu) c.5485A>C (p.Ile1829Leu) | |
8 | g.99717341A>G | CA371867442 | VPS13B | c.6700A>G (p.Ile2234Val) n.6770A>G c.*2382A>G (n.*2382A>G) c.6625A>G (p.Ile2209Val) c.6697A>G (p.Ile2233Val) c.6622A>G (p.Ile2208Val) c.6322A>G (p.Ile2108Val) c.3586A>G (p.Ile1196Val) c.2479A>G (p.Ile827Val) c.6505A>G (p.Ile2169Val) c.2257A>G (p.Ile753Val) c.5485A>G (p.Ile1829Val) | |
8 | g.99717341A>T | CA371867443 | VPS13B | c.6700A>T (p.Ile2234Leu) n.6770A>T c.*2382A>T (n.*2382A>T) c.6625A>T (p.Ile2209Leu) c.6697A>T (p.Ile2233Leu) c.6622A>T (p.Ile2208Leu) c.6322A>T (p.Ile2108Leu) c.3586A>T (p.Ile1196Leu) c.2479A>T (p.Ile827Leu) c.6505A>T (p.Ile2169Leu) c.2257A>T (p.Ile753Leu) c.5485A>T (p.Ile1829Leu) | COSMIC COSMIC |
8 | g.99717342T>A | CA371867444 | VPS13B | c.6701T>A (p.Ile2234Lys) n.6771T>A c.*2383T>A (n.*2383T>A) c.6626T>A (p.Ile2209Lys) c.6698T>A (p.Ile2233Lys) c.6623T>A (p.Ile2208Lys) c.6323T>A (p.Ile2108Lys) c.3587T>A (p.Ile1196Lys) c.2480T>A (p.Ile827Lys) c.6506T>A (p.Ile2169Lys) c.2258T>A (p.Ile753Lys) c.5486T>A (p.Ile1829Lys) | |
8 | g.99717342T>C | CA371867445 | VPS13B | c.6701T>C (p.Ile2234Thr) n.6771T>C c.*2383T>C (n.*2383T>C) c.6626T>C (p.Ile2209Thr) c.6698T>C (p.Ile2233Thr) c.6623T>C (p.Ile2208Thr) c.6323T>C (p.Ile2108Thr) c.3587T>C (p.Ile1196Thr) c.2480T>C (p.Ile827Thr) c.6506T>C (p.Ile2169Thr) c.2258T>C (p.Ile753Thr) c.5486T>C (p.Ile1829Thr) | gnomAD v4 |
8 | g.99717342T>G | CA371867446 | VPS13B | c.6701T>G (p.Ile2234Arg) n.6771T>G c.*2383T>G (n.*2383T>G) c.6626T>G (p.Ile2209Arg) c.6698T>G (p.Ile2233Arg) c.6623T>G (p.Ile2208Arg) c.6323T>G (p.Ile2108Arg) c.3587T>G (p.Ile1196Arg) c.2480T>G (p.Ile827Arg) c.6506T>G (p.Ile2169Arg) c.2258T>G (p.Ile753Arg) c.5486T>G (p.Ile1829Arg) | |
8 | g.99717343A>C | CA462440307 | VPS13B | c.6702A>C (p.Ile2234=) n.6772A>C c.*2384A>C (n.*2384A>C) c.6627A>C (p.Ile2209=) c.6699A>C (p.Ile2233=) c.6624A>C (p.Ile2208=) c.6324A>C (p.Ile2108=) c.3588A>C (p.Ile1196=) c.2481A>C (p.Ile827=) c.6507A>C (p.Ile2169=) c.2259A>C (p.Ile753=) c.5487A>C (p.Ile1829=) | |
8 | g.99717343A>G | CA371867447 | VPS13B | c.6702A>G (p.Ile2234Met) n.6772A>G c.*2384A>G (n.*2384A>G) c.6627A>G (p.Ile2209Met) c.6699A>G (p.Ile2233Met) c.6624A>G (p.Ile2208Met) c.6324A>G (p.Ile2108Met) c.3588A>G (p.Ile1196Met) c.2481A>G (p.Ile827Met) c.6507A>G (p.Ile2169Met) c.2259A>G (p.Ile753Met) c.5487A>G (p.Ile1829Met) | |
8 | g.99717343A>T | CA462440306 | VPS13B | c.6702A>T (p.Ile2234=) n.6772A>T c.*2384A>T (n.*2384A>T) c.6627A>T (p.Ile2209=) c.6699A>T (p.Ile2233=) c.6624A>T (p.Ile2208=) c.6324A>T (p.Ile2108=) c.3588A>T (p.Ile1196=) c.2481A>T (p.Ile827=) c.6507A>T (p.Ile2169=) c.2259A>T (p.Ile753=) c.5487A>T (p.Ile1829=) | |
8 | g.99717343_99717344insCAGAAGAG | CA918325653 | VPS13B | c.6702_6703insCAGAAGAG (p.Ser2235GlnfsTer7) n.6772_6773insCAGAAGAG c.*2384_*2385insCAGAAGAG (n.*2384_*2385insCAGAAGAG) c.6627_6628insCAGAAGAG (p.Ser2210GlnfsTer7) c.6699_6700insCAGAAGAG (p.Ser2234GlnfsTer7) c.6624_6625insCAGAAGAG (p.Ser2209GlnfsTer7) c.6324_6325insCAGAAGAG (p.Ser2109GlnfsTer7) c.3588_3589insCAGAAGAG (p.Ser1197GlnfsTer7) c.2481_2482insCAGAAGAG (p.Ser828GlnfsTer7) c.6507_6508insCAGAAGAG (p.Ser2170GlnfsTer7) c.2259_2260insCAGAAGAG (p.Ser754GlnfsTer7) c.5487_5488insCAGAAGAG (p.Ser1830GlnfsTer7) | dbSNP |
8 | g.99717344T>A | CA371867448 | VPS13B | c.6703T>A (p.Ser2235Thr) n.6773T>A c.*2385T>A (n.*2385T>A) c.6628T>A (p.Ser2210Thr) c.6700T>A (p.Ser2234Thr) c.6625T>A (p.Ser2209Thr) c.6325T>A (p.Ser2109Thr) c.3589T>A (p.Ser1197Thr) c.2482T>A (p.Ser828Thr) c.6508T>A (p.Ser2170Thr) c.2260T>A (p.Ser754Thr) c.5488T>A (p.Ser1830Thr) | |
8 | g.99717344T>C | CA371867449 | VPS13B | c.6703T>C (p.Ser2235Pro) n.6773T>C c.*2385T>C (n.*2385T>C) c.6628T>C (p.Ser2210Pro) c.6700T>C (p.Ser2234Pro) c.6625T>C (p.Ser2209Pro) c.6325T>C (p.Ser2109Pro) c.3589T>C (p.Ser1197Pro) c.2482T>C (p.Ser828Pro) c.6508T>C (p.Ser2170Pro) c.2260T>C (p.Ser754Pro) c.5488T>C (p.Ser1830Pro) | |
8 | g.99717344T>G | CA371867450 | VPS13B | c.6703T>G (p.Ser2235Ala) n.6773T>G c.*2385T>G (n.*2385T>G) c.6628T>G (p.Ser2210Ala) c.6700T>G (p.Ser2234Ala) c.6625T>G (p.Ser2209Ala) c.6325T>G (p.Ser2109Ala) c.3589T>G (p.Ser1197Ala) c.2482T>G (p.Ser828Ala) c.6508T>G (p.Ser2170Ala) c.2260T>G (p.Ser754Ala) c.5488T>G (p.Ser1830Ala) | |
8 | g.99717345C>A | CA371867451 | VPS13B | c.6704C>A (p.Ser2235Tyr) n.6774C>A c.*2386C>A (n.*2386C>A) c.6629C>A (p.Ser2210Tyr) c.6701C>A (p.Ser2234Tyr) c.6626C>A (p.Ser2209Tyr) c.6326C>A (p.Ser2109Tyr) c.3590C>A (p.Ser1197Tyr) c.2483C>A (p.Ser828Tyr) c.6509C>A (p.Ser2170Tyr) c.2261C>A (p.Ser754Tyr) c.5489C>A (p.Ser1830Tyr) | |
8 | g.99717345C>G | CA183029013 | VPS13B | c.6704C>G (p.Ser2235Cys) n.6774C>G c.*2386C>G (n.*2386C>G) c.6629C>G (p.Ser2210Cys) c.6701C>G (p.Ser2234Cys) c.6626C>G (p.Ser2209Cys) c.6326C>G (p.Ser2109Cys) c.3590C>G (p.Ser1197Cys) c.2483C>G (p.Ser828Cys) c.6509C>G (p.Ser2170Cys) c.2261C>G (p.Ser754Cys) c.5489C>G (p.Ser1830Cys) | dbSNP gnomAD v4 |
8 | g.99717345C>T | CA371867452 | VPS13B | c.6704C>T (p.Ser2235Phe) n.6774C>T c.*2386C>T (n.*2386C>T) c.6629C>T (p.Ser2210Phe) c.6701C>T (p.Ser2234Phe) c.6626C>T (p.Ser2209Phe) c.6326C>T (p.Ser2109Phe) c.3590C>T (p.Ser1197Phe) c.2483C>T (p.Ser828Phe) c.6509C>T (p.Ser2170Phe) c.2261C>T (p.Ser754Phe) c.5489C>T (p.Ser1830Phe) | |
8 | g.99717346C>A | CA462440308 | VPS13B | c.6705C>A (p.Ser2235=) n.6775C>A c.*2387C>A (n.*2387C>A) c.6630C>A (p.Ser2210=) c.6702C>A (p.Ser2234=) c.6627C>A (p.Ser2209=) c.6327C>A (p.Ser2109=) c.3591C>A (p.Ser1197=) c.2484C>A (p.Ser828=) c.6510C>A (p.Ser2170=) c.2262C>A (p.Ser754=) c.5490C>A (p.Ser1830=) | |
8 | g.99717346C>G | CA462440309 | VPS13B | c.6705C>G (p.Ser2235=) n.6775C>G c.*2387C>G (n.*2387C>G) c.6630C>G (p.Ser2210=) c.6702C>G (p.Ser2234=) c.6627C>G (p.Ser2209=) c.6327C>G (p.Ser2109=) c.3591C>G (p.Ser1197=) c.2484C>G (p.Ser828=) c.6510C>G (p.Ser2170=) c.2262C>G (p.Ser754=) c.5490C>G (p.Ser1830=) | |
8 | g.99717346C>T | CA462440310 | VPS13B | c.6705C>T (p.Ser2235=) n.6775C>T c.*2387C>T (n.*2387C>T) c.6630C>T (p.Ser2210=) c.6702C>T (p.Ser2234=) c.6627C>T (p.Ser2209=) c.6327C>T (p.Ser2109=) c.3591C>T (p.Ser1197=) c.2484C>T (p.Ser828=) c.6510C>T (p.Ser2170=) c.2262C>T (p.Ser754=) c.5490C>T (p.Ser1830=) | |
8 | g.99717347A>C | CA223479 | VPS13B | c.6706A>C (p.Ile2236Leu) n.6776A>C c.*2388A>C (n.*2388A>C) c.6631A>C (p.Ile2211Leu) c.6703A>C (p.Ile2235Leu) c.6628A>C (p.Ile2210Leu) c.6328A>C (p.Ile2110Leu) c.3592A>C (p.Ile1198Leu) c.2485A>C (p.Ile829Leu) c.6511A>C (p.Ile2171Leu) c.2263A>C (p.Ile755Leu) c.5491A>C (p.Ile1831Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717347A>G | CA4824041 | VPS13B | c.6706A>G (p.Ile2236Val) n.6776A>G c.*2388A>G (n.*2388A>G) c.6631A>G (p.Ile2211Val) c.6703A>G (p.Ile2235Val) c.6628A>G (p.Ile2210Val) c.6328A>G (p.Ile2110Val) c.3592A>G (p.Ile1198Val) c.2485A>G (p.Ile829Val) c.6511A>G (p.Ile2171Val) c.2263A>G (p.Ile755Val) c.5491A>G (p.Ile1831Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717347A>T | CA371867453 | VPS13B | c.6706A>T (p.Ile2236Phe) n.6776A>T c.*2388A>T (n.*2388A>T) c.6631A>T (p.Ile2211Phe) c.6703A>T (p.Ile2235Phe) c.6628A>T (p.Ile2210Phe) c.6328A>T (p.Ile2110Phe) c.3592A>T (p.Ile1198Phe) c.2485A>T (p.Ile829Phe) c.6511A>T (p.Ile2171Phe) c.2263A>T (p.Ile755Phe) c.5491A>T (p.Ile1831Phe) | |
8 | g.99717348T>A | CA371867454 | VPS13B | c.6707T>A (p.Ile2236Asn) n.6777T>A c.*2389T>A (n.*2389T>A) c.6632T>A (p.Ile2211Asn) c.6704T>A (p.Ile2235Asn) c.6629T>A (p.Ile2210Asn) c.6329T>A (p.Ile2110Asn) c.3593T>A (p.Ile1198Asn) c.2486T>A (p.Ile829Asn) c.6512T>A (p.Ile2171Asn) c.2264T>A (p.Ile755Asn) c.5492T>A (p.Ile1831Asn) | |
8 | g.99717348T>C | CA371867455 | VPS13B | c.6707T>C (p.Ile2236Thr) n.6777T>C c.*2389T>C (n.*2389T>C) c.6632T>C (p.Ile2211Thr) c.6704T>C (p.Ile2235Thr) c.6629T>C (p.Ile2210Thr) c.6329T>C (p.Ile2110Thr) c.3593T>C (p.Ile1198Thr) c.2486T>C (p.Ile829Thr) c.6512T>C (p.Ile2171Thr) c.2264T>C (p.Ile755Thr) c.5492T>C (p.Ile1831Thr) | |
8 | g.99717348T>G | CA371867456 | VPS13B | c.6707T>G (p.Ile2236Ser) n.6777T>G c.*2389T>G (n.*2389T>G) c.6632T>G (p.Ile2211Ser) c.6704T>G (p.Ile2235Ser) c.6629T>G (p.Ile2210Ser) c.6329T>G (p.Ile2110Ser) c.3593T>G (p.Ile1198Ser) c.2486T>G (p.Ile829Ser) c.6512T>G (p.Ile2171Ser) c.2264T>G (p.Ile755Ser) c.5492T>G (p.Ile1831Ser) | |
8 | g.99717349T>A | CA462440311 | VPS13B | c.6708T>A (p.Ile2236=) n.6778T>A c.*2390T>A (n.*2390T>A) c.6633T>A (p.Ile2211=) c.6705T>A (p.Ile2235=) c.6630T>A (p.Ile2210=) c.6330T>A (p.Ile2110=) c.3594T>A (p.Ile1198=) c.2487T>A (p.Ile829=) c.6513T>A (p.Ile2171=) c.2265T>A (p.Ile755=) c.5493T>A (p.Ile1831=) | |
8 | g.99717349T>C | CA462440312 | VPS13B | c.6708T>C (p.Ile2236=) n.6778T>C c.*2390T>C (n.*2390T>C) c.6633T>C (p.Ile2211=) c.6705T>C (p.Ile2235=) c.6630T>C (p.Ile2210=) c.6330T>C (p.Ile2110=) c.3594T>C (p.Ile1198=) c.2487T>C (p.Ile829=) c.6513T>C (p.Ile2171=) c.2265T>C (p.Ile755=) c.5493T>C (p.Ile1831=) | |
8 | g.99717349T>G | CA371867457 | VPS13B | c.6708T>G (p.Ile2236Met) n.6778T>G c.*2390T>G (n.*2390T>G) c.6633T>G (p.Ile2211Met) c.6705T>G (p.Ile2235Met) c.6630T>G (p.Ile2210Met) c.6330T>G (p.Ile2110Met) c.3594T>G (p.Ile1198Met) c.2487T>G (p.Ile829Met) c.6513T>G (p.Ile2171Met) c.2265T>G (p.Ile755Met) c.5493T>G (p.Ile1831Met) | |
8 | g.99717349_99717350insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA | CA2567866936 | VPS13B | c.6708_6709insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2237PhefsTer42) n.6778_6779insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA c.*2390_*2391insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (n.*2390_*2391insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA) c.6633_6634insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2212PhefsTer42) c.6705_6706insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2236PhefsTer42) c.6630_6631insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2211PhefsTer42) c.6330_6331insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2111PhefsTer42) c.3594_3595insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp1199PhefsTer42) c.2487_2488insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp830PhefsTer42) c.6513_6514insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2172PhefsTer42) c.2265_2266insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp756PhefsTer42) c.5493_5494insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp1832PhefsTer42) | |
8 | g.99717350G>A | CA371867458 | VPS13B | c.6709G>A (p.Asp2237Asn) n.6779G>A c.*2391G>A (n.*2391G>A) c.6634G>A (p.Asp2212Asn) c.6706G>A (p.Asp2236Asn) c.6631G>A (p.Asp2211Asn) c.6331G>A (p.Asp2111Asn) c.3595G>A (p.Asp1199Asn) c.2488G>A (p.Asp830Asn) c.6514G>A (p.Asp2172Asn) c.2266G>A (p.Asp756Asn) c.5494G>A (p.Asp1832Asn) | |
8 | g.99717350G>C | CA371867459 | VPS13B | c.6709G>C (p.Asp2237His) n.6779G>C c.*2391G>C (n.*2391G>C) c.6634G>C (p.Asp2212His) c.6706G>C (p.Asp2236His) c.6631G>C (p.Asp2211His) c.6331G>C (p.Asp2111His) c.3595G>C (p.Asp1199His) c.2488G>C (p.Asp830His) c.6514G>C (p.Asp2172His) c.2266G>C (p.Asp756His) c.5494G>C (p.Asp1832His) | |
8 | g.99717350G>T | CA371867460 | VPS13B | c.6709G>T (p.Asp2237Tyr) n.6779G>T c.*2391G>T (n.*2391G>T) c.6634G>T (p.Asp2212Tyr) c.6706G>T (p.Asp2236Tyr) c.6631G>T (p.Asp2211Tyr) c.6331G>T (p.Asp2111Tyr) c.3595G>T (p.Asp1199Tyr) c.2488G>T (p.Asp830Tyr) c.6514G>T (p.Asp2172Tyr) c.2266G>T (p.Asp756Tyr) c.5494G>T (p.Asp1832Tyr) | |
8 | g.99717351A>C | CA371867461 | VPS13B | c.6710A>C (p.Asp2237Ala) n.6780A>C c.*2392A>C (n.*2392A>C) c.6635A>C (p.Asp2212Ala) c.6707A>C (p.Asp2236Ala) c.6632A>C (p.Asp2211Ala) c.6332A>C (p.Asp2111Ala) c.3596A>C (p.Asp1199Ala) c.2489A>C (p.Asp830Ala) c.6515A>C (p.Asp2172Ala) c.2267A>C (p.Asp756Ala) c.5495A>C (p.Asp1832Ala) | ClinVar dbSNP |
8 | g.99717351A>G | CA371867463 | VPS13B | c.6710A>G (p.Asp2237Gly) n.6780A>G c.*2392A>G (n.*2392A>G) c.6635A>G (p.Asp2212Gly) c.6707A>G (p.Asp2236Gly) c.6632A>G (p.Asp2211Gly) c.6332A>G (p.Asp2111Gly) c.3596A>G (p.Asp1199Gly) c.2489A>G (p.Asp830Gly) c.6515A>G (p.Asp2172Gly) c.2267A>G (p.Asp756Gly) c.5495A>G (p.Asp1832Gly) | |
8 | g.99717351A>T | CA371867462 | VPS13B | c.6710A>T (p.Asp2237Val) n.6780A>T c.*2392A>T (n.*2392A>T) c.6635A>T (p.Asp2212Val) c.6707A>T (p.Asp2236Val) c.6632A>T (p.Asp2211Val) c.6332A>T (p.Asp2111Val) c.3596A>T (p.Asp1199Val) c.2489A>T (p.Asp830Val) c.6515A>T (p.Asp2172Val) c.2267A>T (p.Asp756Val) c.5495A>T (p.Asp1832Val) | |
8 | g.99717352C>A | CA371867464 | VPS13B | c.6711C>A (p.Asp2237Glu) n.6781C>A c.*2393C>A (n.*2393C>A) c.6636C>A (p.Asp2212Glu) c.6708C>A (p.Asp2236Glu) c.6633C>A (p.Asp2211Glu) c.6333C>A (p.Asp2111Glu) c.3597C>A (p.Asp1199Glu) c.2490C>A (p.Asp830Glu) c.6516C>A (p.Asp2172Glu) c.2268C>A (p.Asp756Glu) c.5496C>A (p.Asp1832Glu) | |
8 | g.99717352C>G | CA4824042 | VPS13B | c.6711C>G (p.Asp2237Glu) n.6781C>G c.*2393C>G (n.*2393C>G) c.6636C>G (p.Asp2212Glu) c.6708C>G (p.Asp2236Glu) c.6633C>G (p.Asp2211Glu) c.6333C>G (p.Asp2111Glu) c.3597C>G (p.Asp1199Glu) c.2490C>G (p.Asp830Glu) c.6516C>G (p.Asp2172Glu) c.2268C>G (p.Asp756Glu) c.5496C>G (p.Asp1832Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717352C>T | CA462440313 | VPS13B | c.6711C>T (p.Asp2237=) n.6781C>T c.*2393C>T (n.*2393C>T) c.6636C>T (p.Asp2212=) c.6708C>T (p.Asp2236=) c.6633C>T (p.Asp2211=) c.6333C>T (p.Asp2111=) c.3597C>T (p.Asp1199=) c.2490C>T (p.Asp830=) c.6516C>T (p.Asp2172=) c.2268C>T (p.Asp756=) c.5496C>T (p.Asp1832=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717353T>A | CA371867465 | VPS13B | c.6712T>A (p.Leu2238Ile) n.6782T>A c.*2394T>A (n.*2394T>A) c.6637T>A (p.Leu2213Ile) c.6709T>A (p.Leu2237Ile) c.6634T>A (p.Leu2212Ile) c.6334T>A (p.Leu2112Ile) c.3598T>A (p.Leu1200Ile) c.2491T>A (p.Leu831Ile) c.6517T>A (p.Leu2173Ile) c.2269T>A (p.Leu757Ile) c.5497T>A (p.Leu1833Ile) | |
8 | g.99717353T>C | CA462440314 | VPS13B | c.6712T>C (p.Leu2238=) n.6782T>C c.*2394T>C (n.*2394T>C) c.6637T>C (p.Leu2213=) c.6709T>C (p.Leu2237=) c.6634T>C (p.Leu2212=) c.6334T>C (p.Leu2112=) c.3598T>C (p.Leu1200=) c.2491T>C (p.Leu831=) c.6517T>C (p.Leu2173=) c.2269T>C (p.Leu757=) c.5497T>C (p.Leu1833=) | |
8 | g.99717353T>G | CA371867466 | VPS13B | c.6712T>G (p.Leu2238Val) n.6782T>G c.*2394T>G (n.*2394T>G) c.6637T>G (p.Leu2213Val) c.6709T>G (p.Leu2237Val) c.6634T>G (p.Leu2212Val) c.6334T>G (p.Leu2112Val) c.3598T>G (p.Leu1200Val) c.2491T>G (p.Leu831Val) c.6517T>G (p.Leu2173Val) c.2269T>G (p.Leu757Val) c.5497T>G (p.Leu1833Val) | |
8 | g.99717354T>A | CA371867469 | VPS13B | c.6713T>A (p.Leu2238Ter) n.6783T>A c.*2395T>A (n.*2395T>A) c.6638T>A (p.Leu2213Ter) c.6710T>A (p.Leu2237Ter) c.6635T>A (p.Leu2212Ter) c.6335T>A (p.Leu2112Ter) c.3599T>A (p.Leu1200Ter) c.2492T>A (p.Leu831Ter) c.6518T>A (p.Leu2173Ter) c.2270T>A (p.Leu757Ter) c.5498T>A (p.Leu1833Ter) | |
8 | g.99717354T>C | CA371867467 | VPS13B | c.6713T>C (p.Leu2238Ser) n.6783T>C c.*2395T>C (n.*2395T>C) c.6638T>C (p.Leu2213Ser) c.6710T>C (p.Leu2237Ser) c.6635T>C (p.Leu2212Ser) c.6335T>C (p.Leu2112Ser) c.3599T>C (p.Leu1200Ser) c.2492T>C (p.Leu831Ser) c.6518T>C (p.Leu2173Ser) c.2270T>C (p.Leu757Ser) c.5498T>C (p.Leu1833Ser) | |
8 | g.99717354T>G | CA371867468 | VPS13B | c.6713T>G (p.Leu2238Ter) n.6783T>G c.*2395T>G (n.*2395T>G) c.6638T>G (p.Leu2213Ter) c.6710T>G (p.Leu2237Ter) c.6635T>G (p.Leu2212Ter) c.6335T>G (p.Leu2112Ter) c.3599T>G (p.Leu1200Ter) c.2492T>G (p.Leu831Ter) c.6518T>G (p.Leu2173Ter) c.2270T>G (p.Leu757Ter) c.5498T>G (p.Leu1833Ter) | |
8 | g.99717355A>C | CA371867470 | VPS13B | c.6714A>C (p.Leu2238Phe) n.6784A>C c.*2396A>C (n.*2396A>C) c.6639A>C (p.Leu2213Phe) c.6711A>C (p.Leu2237Phe) c.6636A>C (p.Leu2212Phe) c.6336A>C (p.Leu2112Phe) c.3600A>C (p.Leu1200Phe) c.2493A>C (p.Leu831Phe) c.6519A>C (p.Leu2173Phe) c.2271A>C (p.Leu757Phe) c.5499A>C (p.Leu1833Phe) | |
8 | g.99717355A>G | CA462440315 | VPS13B | c.6714A>G (p.Leu2238=) n.6784A>G c.*2396A>G (n.*2396A>G) c.6639A>G (p.Leu2213=) c.6711A>G (p.Leu2237=) c.6636A>G (p.Leu2212=) c.6336A>G (p.Leu2112=) c.3600A>G (p.Leu1200=) c.2493A>G (p.Leu831=) c.6519A>G (p.Leu2173=) c.2271A>G (p.Leu757=) c.5499A>G (p.Leu1833=) | |
8 | g.99717355A>T | CA371867471 | VPS13B | c.6714A>T (p.Leu2238Phe) n.6784A>T c.*2396A>T (n.*2396A>T) c.6639A>T (p.Leu2213Phe) c.6711A>T (p.Leu2237Phe) c.6636A>T (p.Leu2212Phe) c.6336A>T (p.Leu2112Phe) c.3600A>T (p.Leu1200Phe) c.2493A>T (p.Leu831Phe) c.6519A>T (p.Leu2173Phe) c.2271A>T (p.Leu757Phe) c.5499A>T (p.Leu1833Phe) | |
8 | g.99717356A>C | CA462440316 | VPS13B | c.6715A>C (p.Arg2239=) n.6785A>C c.*2397A>C (n.*2397A>C) c.6640A>C (p.Arg2214=) c.6712A>C (p.Arg2238=) c.6637A>C (p.Arg2213=) c.6337A>C (p.Arg2113=) c.3601A>C (p.Arg1201=) c.2494A>C (p.Arg832=) c.6520A>C (p.Arg2174=) c.2272A>C (p.Arg758=) c.5500A>C (p.Arg1834=) | |
8 | g.99717356A>G | CA371867472 | VPS13B | c.6715A>G (p.Arg2239Gly) n.6785A>G c.*2397A>G (n.*2397A>G) c.6640A>G (p.Arg2214Gly) c.6712A>G (p.Arg2238Gly) c.6637A>G (p.Arg2213Gly) c.6337A>G (p.Arg2113Gly) c.3601A>G (p.Arg1201Gly) c.2494A>G (p.Arg832Gly) c.6520A>G (p.Arg2174Gly) c.2272A>G (p.Arg758Gly) c.5500A>G (p.Arg1834Gly) | |
8 | g.99717356A>T | CA371867473 | VPS13B | c.6715A>T (p.Arg2239Ter) n.6785A>T c.*2397A>T (n.*2397A>T) c.6640A>T (p.Arg2214Ter) c.6712A>T (p.Arg2238Ter) c.6637A>T (p.Arg2213Ter) c.6337A>T (p.Arg2113Ter) c.3601A>T (p.Arg1201Ter) c.2494A>T (p.Arg832Ter) c.6520A>T (p.Arg2174Ter) c.2272A>T (p.Arg758Ter) c.5500A>T (p.Arg1834Ter) | |
8 | g.99717357G>A | CA371867474 | VPS13B | c.6716G>A (p.Arg2239Lys) n.6786G>A c.*2398G>A (n.*2398G>A) c.6641G>A (p.Arg2214Lys) c.6713G>A (p.Arg2238Lys) c.6638G>A (p.Arg2213Lys) c.6338G>A (p.Arg2113Lys) c.3602G>A (p.Arg1201Lys) c.2495G>A (p.Arg832Lys) c.6521G>A (p.Arg2174Lys) c.2273G>A (p.Arg758Lys) c.5501G>A (p.Arg1834Lys) | dbSNP gnomAD v4 |
8 | g.99717357G>C | CA371867475 | VPS13B | c.6716G>C (p.Arg2239Thr) n.6786G>C c.*2398G>C (n.*2398G>C) c.6641G>C (p.Arg2214Thr) c.6713G>C (p.Arg2238Thr) c.6638G>C (p.Arg2213Thr) c.6338G>C (p.Arg2113Thr) c.3602G>C (p.Arg1201Thr) c.2495G>C (p.Arg832Thr) c.6521G>C (p.Arg2174Thr) c.2273G>C (p.Arg758Thr) c.5501G>C (p.Arg1834Thr) | |
8 | g.99717357G>T | CA371867476 | VPS13B | c.6716G>T (p.Arg2239Ile) n.6786G>T c.*2398G>T (n.*2398G>T) c.6641G>T (p.Arg2214Ile) c.6713G>T (p.Arg2238Ile) c.6638G>T (p.Arg2213Ile) c.6338G>T (p.Arg2113Ile) c.3602G>T (p.Arg1201Ile) c.2495G>T (p.Arg832Ile) c.6521G>T (p.Arg2174Ile) c.2273G>T (p.Arg758Ile) c.5501G>T (p.Arg1834Ile) | |
8 | g.99717358A>C | CA371867477 | VPS13B | c.6717A>C (p.Arg2239Ser) n.6787A>C c.*2399A>C (n.*2399A>C) c.6642A>C (p.Arg2214Ser) c.6714A>C (p.Arg2238Ser) c.6639A>C (p.Arg2213Ser) c.6339A>C (p.Arg2113Ser) c.3603A>C (p.Arg1201Ser) c.2496A>C (p.Arg832Ser) c.6522A>C (p.Arg2174Ser) c.2274A>C (p.Arg758Ser) c.5502A>C (p.Arg1834Ser) | |
8 | g.99717358A>G | CA462440317 | VPS13B | c.6717A>G (p.Arg2239=) n.6787A>G c.*2399A>G (n.*2399A>G) c.6642A>G (p.Arg2214=) c.6714A>G (p.Arg2238=) c.6639A>G (p.Arg2213=) c.6339A>G (p.Arg2113=) c.3603A>G (p.Arg1201=) c.2496A>G (p.Arg832=) c.6522A>G (p.Arg2174=) c.2274A>G (p.Arg758=) c.5502A>G (p.Arg1834=) | |
8 | g.99717358A>T | CA371867478 | VPS13B | c.6717A>T (p.Arg2239Ser) n.6787A>T c.*2399A>T (n.*2399A>T) c.6642A>T (p.Arg2214Ser) c.6714A>T (p.Arg2238Ser) c.6639A>T (p.Arg2213Ser) c.6339A>T (p.Arg2113Ser) c.3603A>T (p.Arg1201Ser) c.2496A>T (p.Arg832Ser) c.6522A>T (p.Arg2174Ser) c.2274A>T (p.Arg758Ser) c.5502A>T (p.Arg1834Ser) | |
8 | g.99717359G>A | CA371867479 | VPS13B | c.6718G>A (p.Gly2240Arg) n.6788G>A c.*2400G>A (n.*2400G>A) c.6643G>A (p.Gly2215Arg) c.6715G>A (p.Gly2239Arg) c.6640G>A (p.Gly2214Arg) c.6340G>A (p.Gly2114Arg) c.3604G>A (p.Gly1202Arg) c.2497G>A (p.Gly833Arg) c.6523G>A (p.Gly2175Arg) c.2275G>A (p.Gly759Arg) c.5503G>A (p.Gly1835Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717359G>C | CA371867480 | VPS13B | c.6718G>C (p.Gly2240Arg) n.6788G>C c.*2400G>C (n.*2400G>C) c.6643G>C (p.Gly2215Arg) c.6715G>C (p.Gly2239Arg) c.6640G>C (p.Gly2214Arg) c.6340G>C (p.Gly2114Arg) c.3604G>C (p.Gly1202Arg) c.2497G>C (p.Gly833Arg) c.6523G>C (p.Gly2175Arg) c.2275G>C (p.Gly759Arg) c.5503G>C (p.Gly1835Arg) | |
8 | g.99717359G>T | CA371867481 | VPS13B | c.6718G>T (p.Gly2240Ter) n.6788G>T c.*2400G>T (n.*2400G>T) c.6643G>T (p.Gly2215Ter) c.6715G>T (p.Gly2239Ter) c.6640G>T (p.Gly2214Ter) c.6340G>T (p.Gly2114Ter) c.3604G>T (p.Gly1202Ter) c.2497G>T (p.Gly833Ter) c.6523G>T (p.Gly2175Ter) c.2275G>T (p.Gly759Ter) c.5503G>T (p.Gly1835Ter) | |
8 | g.99717360G>A | CA371867482 | VPS13B | c.6719G>A (p.Gly2240Glu) n.6789G>A c.*2401G>A (n.*2401G>A) c.6644G>A (p.Gly2215Glu) c.6716G>A (p.Gly2239Glu) c.6641G>A (p.Gly2214Glu) c.6341G>A (p.Gly2114Glu) c.3605G>A (p.Gly1202Glu) c.2498G>A (p.Gly833Glu) c.6524G>A (p.Gly2175Glu) c.2276G>A (p.Gly759Glu) c.5504G>A (p.Gly1835Glu) | |
8 | g.99717360G>C | CA371867484 | VPS13B | c.6719G>C (p.Gly2240Ala) n.6789G>C c.*2401G>C (n.*2401G>C) c.6644G>C (p.Gly2215Ala) c.6716G>C (p.Gly2239Ala) c.6641G>C (p.Gly2214Ala) c.6341G>C (p.Gly2114Ala) c.3605G>C (p.Gly1202Ala) c.2498G>C (p.Gly833Ala) c.6524G>C (p.Gly2175Ala) c.2276G>C (p.Gly759Ala) c.5504G>C (p.Gly1835Ala) | |
8 | g.99717360G>T | CA371867483 | VPS13B | c.6719G>T (p.Gly2240Val) n.6789G>T c.*2401G>T (n.*2401G>T) c.6644G>T (p.Gly2215Val) c.6716G>T (p.Gly2239Val) c.6641G>T (p.Gly2214Val) c.6341G>T (p.Gly2114Val) c.3605G>T (p.Gly1202Val) c.2498G>T (p.Gly833Val) c.6524G>T (p.Gly2175Val) c.2276G>T (p.Gly759Val) c.5504G>T (p.Gly1835Val) | |
8 | g.99717361A>C | CA4824043 | VPS13B | c.6720A>C (p.Gly2240=) n.6790A>C c.*2402A>C (n.*2402A>C) c.6645A>C (p.Gly2215=) c.6717A>C (p.Gly2239=) c.6642A>C (p.Gly2214=) c.6342A>C (p.Gly2114=) c.3606A>C (p.Gly1202=) c.2499A>C (p.Gly833=) c.6525A>C (p.Gly2175=) c.2277A>C (p.Gly759=) c.5505A>C (p.Gly1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717361A>G | CA462440318 | VPS13B | c.6720A>G (p.Gly2240=) n.6790A>G c.*2402A>G (n.*2402A>G) c.6645A>G (p.Gly2215=) c.6717A>G (p.Gly2239=) c.6642A>G (p.Gly2214=) c.6342A>G (p.Gly2114=) c.3606A>G (p.Gly1202=) c.2499A>G (p.Gly833=) c.6525A>G (p.Gly2175=) c.2277A>G (p.Gly759=) c.5505A>G (p.Gly1835=) | |
8 | g.99717361A>T | CA462440319 | VPS13B | c.6720A>T (p.Gly2240=) n.6790A>T c.*2402A>T (n.*2402A>T) c.6645A>T (p.Gly2215=) c.6717A>T (p.Gly2239=) c.6642A>T (p.Gly2214=) c.6342A>T (p.Gly2114=) c.3606A>T (p.Gly1202=) c.2499A>T (p.Gly833=) c.6525A>T (p.Gly2175=) c.2277A>T (p.Gly759=) c.5505A>T (p.Gly1835=) | |
8 | g.99717362G>A | CA4824044 | VPS13B | c.6721G>A (p.Gly2241Ser) n.6791G>A c.*2403G>A (n.*2403G>A) c.6646G>A (p.Gly2216Ser) c.6718G>A (p.Gly2240Ser) c.6643G>A (p.Gly2215Ser) c.6343G>A (p.Gly2115Ser) c.3607G>A (p.Gly1203Ser) c.2500G>A (p.Gly834Ser) c.6526G>A (p.Gly2176Ser) c.2278G>A (p.Gly760Ser) c.5506G>A (p.Gly1836Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717362G>C | CA371867485 | VPS13B | c.6721G>C (p.Gly2241Arg) n.6791G>C c.*2403G>C (n.*2403G>C) c.6646G>C (p.Gly2216Arg) c.6718G>C (p.Gly2240Arg) c.6643G>C (p.Gly2215Arg) c.6343G>C (p.Gly2115Arg) c.3607G>C (p.Gly1203Arg) c.2500G>C (p.Gly834Arg) c.6526G>C (p.Gly2176Arg) c.2278G>C (p.Gly760Arg) c.5506G>C (p.Gly1836Arg) | |
8 | g.99717362G>T | CA371867486 | VPS13B | c.6721G>T (p.Gly2241Cys) n.6791G>T c.*2403G>T (n.*2403G>T) c.6646G>T (p.Gly2216Cys) c.6718G>T (p.Gly2240Cys) c.6643G>T (p.Gly2215Cys) c.6343G>T (p.Gly2115Cys) c.3607G>T (p.Gly1203Cys) c.2500G>T (p.Gly834Cys) c.6526G>T (p.Gly2176Cys) c.2278G>T (p.Gly760Cys) c.5506G>T (p.Gly1836Cys) | gnomAD v4 |
8 | g.99717363G>A | CA371867487 | VPS13B | c.6722G>A (p.Gly2241Asp) n.6792G>A c.*2404G>A (n.*2404G>A) c.6647G>A (p.Gly2216Asp) c.6719G>A (p.Gly2240Asp) c.6644G>A (p.Gly2215Asp) c.6344G>A (p.Gly2115Asp) c.3608G>A (p.Gly1203Asp) c.2501G>A (p.Gly834Asp) c.6527G>A (p.Gly2176Asp) c.2279G>A (p.Gly760Asp) c.5507G>A (p.Gly1836Asp) | gnomAD v4 |
8 | g.99717363G>C | CA371867488 | VPS13B | c.6722G>C (p.Gly2241Ala) n.6792G>C c.*2404G>C (n.*2404G>C) c.6647G>C (p.Gly2216Ala) c.6719G>C (p.Gly2240Ala) c.6644G>C (p.Gly2215Ala) c.6344G>C (p.Gly2115Ala) c.3608G>C (p.Gly1203Ala) c.2501G>C (p.Gly834Ala) c.6527G>C (p.Gly2176Ala) c.2279G>C (p.Gly760Ala) c.5507G>C (p.Gly1836Ala) | |
8 | g.99717363G>T | CA371867489 | VPS13B | c.6722G>T (p.Gly2241Val) n.6792G>T c.*2404G>T (n.*2404G>T) c.6647G>T (p.Gly2216Val) c.6719G>T (p.Gly2240Val) c.6644G>T (p.Gly2215Val) c.6344G>T (p.Gly2115Val) c.3608G>T (p.Gly1203Val) c.2501G>T (p.Gly834Val) c.6527G>T (p.Gly2176Val) c.2279G>T (p.Gly760Val) c.5507G>T (p.Gly1836Val) | dbSNP |
8 | g.99717363_99717369del | CA2580079144 | VPS13B | c.6722_6728del (p.Gly2241AspfsTer10) n.6792_6798del c.*2404_*2410del (n.*2404_*2410del) c.6647_6653del (p.Gly2216AspfsTer10) c.6719_6725del (p.Gly2240AspfsTer10) c.6644_6650del (p.Gly2215AspfsTer10) c.6344_6350del (p.Gly2115AspfsTer10) c.3608_3614del (p.Gly1203AspfsTer10) c.2501_2507del (p.Gly834AspfsTer10) c.6527_6533del (p.Gly2176AspfsTer10) c.2279_2285del (p.Gly760AspfsTer10) c.5507_5513del (p.Gly1836AspfsTer10) | ClinVar |
8 | g.99717364T>A | CA462440320 | VPS13B | c.6723T>A (p.Gly2241=) n.6793T>A c.*2405T>A (n.*2405T>A) c.6648T>A (p.Gly2216=) c.6720T>A (p.Gly2240=) c.6645T>A (p.Gly2215=) c.6345T>A (p.Gly2115=) c.3609T>A (p.Gly1203=) c.2502T>A (p.Gly834=) c.6528T>A (p.Gly2176=) c.2280T>A (p.Gly760=) c.5508T>A (p.Gly1836=) | |
8 | g.99717364T>C | CA4824045 | VPS13B | c.6723T>C (p.Gly2241=) n.6793T>C c.*2405T>C (n.*2405T>C) c.6648T>C (p.Gly2216=) c.6720T>C (p.Gly2240=) c.6645T>C (p.Gly2215=) c.6345T>C (p.Gly2115=) c.3609T>C (p.Gly1203=) c.2502T>C (p.Gly834=) c.6528T>C (p.Gly2176=) c.2280T>C (p.Gly760=) c.5508T>C (p.Gly1836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717364T>G | CA462440321 | VPS13B | c.6723T>G (p.Gly2241=) n.6793T>G c.*2405T>G (n.*2405T>G) c.6648T>G (p.Gly2216=) c.6720T>G (p.Gly2240=) c.6645T>G (p.Gly2215=) c.6345T>G (p.Gly2115=) c.3609T>G (p.Gly1203=) c.2502T>G (p.Gly834=) c.6528T>G (p.Gly2176=) c.2280T>G (p.Gly760=) c.5508T>G (p.Gly1836=) | |
8 | g.99717365C>A | CA371867490 | VPS13B | c.6724C>A (p.Leu2242Ile) n.6794C>A c.*2406C>A (n.*2406C>A) c.6649C>A (p.Leu2217Ile) c.6721C>A (p.Leu2241Ile) c.6646C>A (p.Leu2216Ile) c.6346C>A (p.Leu2116Ile) c.3610C>A (p.Leu1204Ile) c.2503C>A (p.Leu835Ile) c.6529C>A (p.Leu2177Ile) c.2281C>A (p.Leu761Ile) c.5509C>A (p.Leu1837Ile) | |
8 | g.99717365C>G | CA371867491 | VPS13B | c.6724C>G (p.Leu2242Val) n.6794C>G c.*2406C>G (n.*2406C>G) c.6649C>G (p.Leu2217Val) c.6721C>G (p.Leu2241Val) c.6646C>G (p.Leu2216Val) c.6346C>G (p.Leu2116Val) c.3610C>G (p.Leu1204Val) c.2503C>G (p.Leu835Val) c.6529C>G (p.Leu2177Val) c.2281C>G (p.Leu761Val) c.5509C>G (p.Leu1837Val) | |
8 | g.99717365C>T | CA462440322 | VPS13B | c.6724C>T (p.Leu2242=) n.6794C>T c.*2406C>T (n.*2406C>T) c.6649C>T (p.Leu2217=) c.6721C>T (p.Leu2241=) c.6646C>T (p.Leu2216=) c.6346C>T (p.Leu2116=) c.3610C>T (p.Leu1204=) c.2503C>T (p.Leu835=) c.6529C>T (p.Leu2177=) c.2281C>T (p.Leu761=) c.5509C>T (p.Leu1837=) | |
8 | g.99717366T>A | CA371867492 | VPS13B | c.6725T>A (p.Leu2242Gln) n.6795T>A c.*2407T>A (n.*2407T>A) c.6650T>A (p.Leu2217Gln) c.6722T>A (p.Leu2241Gln) c.6647T>A (p.Leu2216Gln) c.6347T>A (p.Leu2116Gln) c.3611T>A (p.Leu1204Gln) c.2504T>A (p.Leu835Gln) c.6530T>A (p.Leu2177Gln) c.2282T>A (p.Leu761Gln) c.5510T>A (p.Leu1837Gln) | |
8 | g.99717366T>C | CA371867493 | VPS13B | c.6725T>C (p.Leu2242Pro) n.6795T>C c.*2407T>C (n.*2407T>C) c.6650T>C (p.Leu2217Pro) c.6722T>C (p.Leu2241Pro) c.6647T>C (p.Leu2216Pro) c.6347T>C (p.Leu2116Pro) c.3611T>C (p.Leu1204Pro) c.2504T>C (p.Leu835Pro) c.6530T>C (p.Leu2177Pro) c.2282T>C (p.Leu761Pro) c.5510T>C (p.Leu1837Pro) | gnomAD v4 |
8 | g.99717366T>G | CA371867494 | VPS13B | c.6725T>G (p.Leu2242Arg) n.6795T>G c.*2407T>G (n.*2407T>G) c.6650T>G (p.Leu2217Arg) c.6722T>G (p.Leu2241Arg) c.6647T>G (p.Leu2216Arg) c.6347T>G (p.Leu2116Arg) c.3611T>G (p.Leu1204Arg) c.2504T>G (p.Leu835Arg) c.6530T>G (p.Leu2177Arg) c.2282T>G (p.Leu761Arg) c.5510T>G (p.Leu1837Arg) | |
8 | g.99717367A>C | CA462440323 | VPS13B | c.6726A>C (p.Leu2242=) n.6796A>C c.*2408A>C (n.*2408A>C) c.6651A>C (p.Leu2217=) c.6723A>C (p.Leu2241=) c.6648A>C (p.Leu2216=) c.6348A>C (p.Leu2116=) c.3612A>C (p.Leu1204=) c.2505A>C (p.Leu835=) c.6531A>C (p.Leu2177=) c.2283A>C (p.Leu761=) c.5511A>C (p.Leu1837=) | |
8 | g.99717367A>G | CA4824046 | VPS13B | c.6726A>G (p.Leu2242=) n.6796A>G c.*2408A>G (n.*2408A>G) c.6651A>G (p.Leu2217=) c.6723A>G (p.Leu2241=) c.6648A>G (p.Leu2216=) c.6348A>G (p.Leu2116=) c.3612A>G (p.Leu1204=) c.2505A>G (p.Leu835=) c.6531A>G (p.Leu2177=) c.2283A>G (p.Leu761=) c.5511A>G (p.Leu1837=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717367A>T | CA462440324 | VPS13B | c.6726A>T (p.Leu2242=) n.6796A>T c.*2408A>T (n.*2408A>T) c.6651A>T (p.Leu2217=) c.6723A>T (p.Leu2241=) c.6648A>T (p.Leu2216=) c.6348A>T (p.Leu2116=) c.3612A>T (p.Leu1204=) c.2505A>T (p.Leu835=) c.6531A>T (p.Leu2177=) c.2283A>T (p.Leu761=) c.5511A>T (p.Leu1837=) | |
8 | g.99717368C>A | CA4824047 | VPS13B | c.6727C>A (p.Leu2243Ile) n.6797C>A c.*2409C>A (n.*2409C>A) c.6652C>A (p.Leu2218Ile) c.6724C>A (p.Leu2242Ile) c.6649C>A (p.Leu2217Ile) c.6349C>A (p.Leu2117Ile) c.3613C>A (p.Leu1205Ile) c.2506C>A (p.Leu836Ile) c.6532C>A (p.Leu2178Ile) c.2284C>A (p.Leu762Ile) c.5512C>A (p.Leu1838Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717368C>G | CA371867495 | VPS13B | c.6727C>G (p.Leu2243Val) n.6797C>G c.*2409C>G (n.*2409C>G) c.6652C>G (p.Leu2218Val) c.6724C>G (p.Leu2242Val) c.6649C>G (p.Leu2217Val) c.6349C>G (p.Leu2117Val) c.3613C>G (p.Leu1205Val) c.2506C>G (p.Leu836Val) c.6532C>G (p.Leu2178Val) c.2284C>G (p.Leu762Val) c.5512C>G (p.Leu1838Val) | |
8 | g.99717368C>T | CA462440325 | VPS13B | c.6727C>T (p.Leu2243=) n.6797C>T c.*2409C>T (n.*2409C>T) c.6652C>T (p.Leu2218=) c.6724C>T (p.Leu2242=) c.6649C>T (p.Leu2217=) c.6349C>T (p.Leu2117=) c.3613C>T (p.Leu1205=) c.2506C>T (p.Leu836=) c.6532C>T (p.Leu2178=) c.2284C>T (p.Leu762=) c.5512C>T (p.Leu1838=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717369T>A | CA371867496 | VPS13B | c.6728T>A (p.Leu2243Gln) n.6798T>A c.*2410T>A (n.*2410T>A) c.6653T>A (p.Leu2218Gln) c.6725T>A (p.Leu2242Gln) c.6650T>A (p.Leu2217Gln) c.6350T>A (p.Leu2117Gln) c.3614T>A (p.Leu1205Gln) c.2507T>A (p.Leu836Gln) c.6533T>A (p.Leu2178Gln) c.2285T>A (p.Leu762Gln) c.5513T>A (p.Leu1838Gln) | |
8 | g.99717369T>C | CA371867497 | VPS13B | c.6728T>C (p.Leu2243Pro) n.6798T>C c.*2410T>C (n.*2410T>C) c.6653T>C (p.Leu2218Pro) c.6725T>C (p.Leu2242Pro) c.6650T>C (p.Leu2217Pro) c.6350T>C (p.Leu2117Pro) c.3614T>C (p.Leu1205Pro) c.2507T>C (p.Leu836Pro) c.6533T>C (p.Leu2178Pro) c.2285T>C (p.Leu762Pro) c.5513T>C (p.Leu1838Pro) | gnomAD v4 |
8 | g.99717369T>G | CA371867498 | VPS13B | c.6728T>G (p.Leu2243Arg) n.6798T>G c.*2410T>G (n.*2410T>G) c.6653T>G (p.Leu2218Arg) c.6725T>G (p.Leu2242Arg) c.6650T>G (p.Leu2217Arg) c.6350T>G (p.Leu2117Arg) c.3614T>G (p.Leu1205Arg) c.2507T>G (p.Leu836Arg) c.6533T>G (p.Leu2178Arg) c.2285T>G (p.Leu762Arg) c.5513T>G (p.Leu1838Arg) | |
8 | g.99717370A>C | CA462440326 | VPS13B | c.6729A>C (p.Leu2243=) n.6799A>C c.*2411A>C (n.*2411A>C) c.6654A>C (p.Leu2218=) c.6726A>C (p.Leu2242=) c.6651A>C (p.Leu2217=) c.6351A>C (p.Leu2117=) c.3615A>C (p.Leu1205=) c.2508A>C (p.Leu836=) c.6534A>C (p.Leu2178=) c.2286A>C (p.Leu762=) c.5514A>C (p.Leu1838=) | |
8 | g.99717370A>G | CA183029025 | VPS13B | c.6729A>G (p.Leu2243=) n.6799A>G c.*2411A>G (n.*2411A>G) c.6654A>G (p.Leu2218=) c.6726A>G (p.Leu2242=) c.6651A>G (p.Leu2217=) c.6351A>G (p.Leu2117=) c.3615A>G (p.Leu1205=) c.2508A>G (p.Leu836=) c.6534A>G (p.Leu2178=) c.2286A>G (p.Leu762=) c.5514A>G (p.Leu1838=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717370A>T | CA462440327 | VPS13B | c.6729A>T (p.Leu2243=) n.6799A>T c.*2411A>T (n.*2411A>T) c.6654A>T (p.Leu2218=) c.6726A>T (p.Leu2242=) c.6651A>T (p.Leu2217=) c.6351A>T (p.Leu2117=) c.3615A>T (p.Leu1205=) c.2508A>T (p.Leu836=) c.6534A>T (p.Leu2178=) c.2286A>T (p.Leu762=) c.5514A>T (p.Leu1838=) | |
8 | g.99717371C>A | CA371867499 | VPS13B | c.6730C>A (p.Gln2244Lys) n.6800C>A c.*2412C>A (n.*2412C>A) c.6655C>A (p.Gln2219Lys) c.6727C>A (p.Gln2243Lys) c.6652C>A (p.Gln2218Lys) c.6352C>A (p.Gln2118Lys) c.3616C>A (p.Gln1206Lys) c.2509C>A (p.Gln837Lys) c.6535C>A (p.Gln2179Lys) c.2287C>A (p.Gln763Lys) c.5515C>A (p.Gln1839Lys) | gnomAD v4 |
8 | g.99717371C>G | CA371867500 | VPS13B | c.6730C>G (p.Gln2244Glu) n.6800C>G c.*2412C>G (n.*2412C>G) c.6655C>G (p.Gln2219Glu) c.6727C>G (p.Gln2243Glu) c.6652C>G (p.Gln2218Glu) c.6352C>G (p.Gln2118Glu) c.3616C>G (p.Gln1206Glu) c.2509C>G (p.Gln837Glu) c.6535C>G (p.Gln2179Glu) c.2287C>G (p.Gln763Glu) c.5515C>G (p.Gln1839Glu) | |
8 | g.99717371C>T | CA16041246 | VPS13B | c.6730C>T (p.Gln2244Ter) n.6800C>T c.*2412C>T (n.*2412C>T) c.6655C>T (p.Gln2219Ter) c.6727C>T (p.Gln2243Ter) c.6652C>T (p.Gln2218Ter) c.6352C>T (p.Gln2118Ter) c.3616C>T (p.Gln1206Ter) c.2509C>T (p.Gln837Ter) c.6535C>T (p.Gln2179Ter) c.2287C>T (p.Gln763Ter) c.5515C>T (p.Gln1839Ter) | ClinVar dbSNP |
8 | g.99717372A>C | CA371867501 | VPS13B | c.6731A>C (p.Gln2244Pro) n.6801A>C c.*2413A>C (n.*2413A>C) c.6656A>C (p.Gln2219Pro) c.6728A>C (p.Gln2243Pro) c.6653A>C (p.Gln2218Pro) c.6353A>C (p.Gln2118Pro) c.3617A>C (p.Gln1206Pro) c.2510A>C (p.Gln837Pro) c.6536A>C (p.Gln2179Pro) c.2288A>C (p.Gln763Pro) c.5516A>C (p.Gln1839Pro) | |
8 | g.99717372A>G | CA4824048 | VPS13B | c.6731A>G (p.Gln2244Arg) n.6801A>G c.*2413A>G (n.*2413A>G) c.6656A>G (p.Gln2219Arg) c.6728A>G (p.Gln2243Arg) c.6653A>G (p.Gln2218Arg) c.6353A>G (p.Gln2118Arg) c.3617A>G (p.Gln1206Arg) c.2510A>G (p.Gln837Arg) c.6536A>G (p.Gln2179Arg) c.2288A>G (p.Gln763Arg) c.5516A>G (p.Gln1839Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717372A>T | CA371867502 | VPS13B | c.6731A>T (p.Gln2244Leu) n.6801A>T c.*2413A>T (n.*2413A>T) c.6656A>T (p.Gln2219Leu) c.6728A>T (p.Gln2243Leu) c.6653A>T (p.Gln2218Leu) c.6353A>T (p.Gln2118Leu) c.3617A>T (p.Gln1206Leu) c.2510A>T (p.Gln837Leu) c.6536A>T (p.Gln2179Leu) c.2288A>T (p.Gln763Leu) c.5516A>T (p.Gln1839Leu) | |
8 | g.99717373G>A | CA462440328 | VPS13B | c.6732G>A (p.Gln2244=) n.6802G>A c.*2414G>A (n.*2414G>A) c.6657G>A (p.Gln2219=) c.6729G>A (p.Gln2243=) c.6654G>A (p.Gln2218=) c.6354G>A (p.Gln2118=) c.3618G>A (p.Gln1206=) c.2511G>A (p.Gln837=) c.6537G>A (p.Gln2179=) c.2289G>A (p.Gln763=) c.5517G>A (p.Gln1839=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717373G>C | CA371867503 | VPS13B | c.6732G>C (p.Gln2244His) n.6802G>C c.*2414G>C (n.*2414G>C) c.6657G>C (p.Gln2219His) c.6729G>C (p.Gln2243His) c.6654G>C (p.Gln2218His) c.6354G>C (p.Gln2118His) c.3618G>C (p.Gln1206His) c.2511G>C (p.Gln837His) c.6537G>C (p.Gln2179His) c.2289G>C (p.Gln763His) c.5517G>C (p.Gln1839His) | |
8 | g.99717373G>T | CA371867504 | VPS13B | c.6732G>T (p.Gln2244His) n.6802G>T c.*2414G>T (n.*2414G>T) c.6657G>T (p.Gln2219His) c.6729G>T (p.Gln2243His) c.6654G>T (p.Gln2218His) c.6354G>T (p.Gln2118His) c.3618G>T (p.Gln1206His) c.2511G>T (p.Gln837His) c.6537G>T (p.Gln2179His) c.2289G>T (p.Gln763His) c.5517G>T (p.Gln1839His) | |
8 | g.99717374G>A | CA264113 | VPS13B | c.6732+1G>A (n.6732+1G>A) n.6802+1G>A c.*2414+1G>A (n.*2414+1G>A) c.6657+1G>A (n.6657+1G>A) c.6729+1G>A (n.6729+1G>A) c.6654+1G>A (n.6654+1G>A) c.6354+1G>A (n.6354+1G>A) c.3618+1G>A (n.3618+1G>A) c.2511+1G>A (n.2511+1G>A) c.6537+1G>A (n.6537+1G>A) c.2289+1G>A (n.2289+1G>A) c.5517+1G>A (n.5517+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717374G>C | CA371867506 | VPS13B | c.6732+1G>C (n.6732+1G>C) n.6802+1G>C c.*2414+1G>C (n.*2414+1G>C) c.6657+1G>C (n.6657+1G>C) c.6729+1G>C (n.6729+1G>C) c.6654+1G>C (n.6654+1G>C) c.6354+1G>C (n.6354+1G>C) c.3618+1G>C (n.3618+1G>C) c.2511+1G>C (n.2511+1G>C) c.6537+1G>C (n.6537+1G>C) c.2289+1G>C (n.2289+1G>C) c.5517+1G>C (n.5517+1G>C) | |
8 | g.99717374G>T | CA371867505 | VPS13B | c.6732+1G>T (n.6732+1G>T) n.6802+1G>T c.*2414+1G>T (n.*2414+1G>T) c.6657+1G>T (n.6657+1G>T) c.6729+1G>T (n.6729+1G>T) c.6654+1G>T (n.6654+1G>T) c.6354+1G>T (n.6354+1G>T) c.3618+1G>T (n.3618+1G>T) c.2511+1G>T (n.2511+1G>T) c.6537+1G>T (n.6537+1G>T) c.2289+1G>T (n.2289+1G>T) c.5517+1G>T (n.5517+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717375T>A | CA371867508 | VPS13B | c.6732+2T>A (n.6732+2T>A) n.6802+2T>A c.*2414+2T>A (n.*2414+2T>A) c.6657+2T>A (n.6657+2T>A) c.6729+2T>A (n.6729+2T>A) c.6654+2T>A (n.6654+2T>A) c.6354+2T>A (n.6354+2T>A) c.3618+2T>A (n.3618+2T>A) c.2511+2T>A (n.2511+2T>A) c.6537+2T>A (n.6537+2T>A) c.2289+2T>A (n.2289+2T>A) c.5517+2T>A (n.5517+2T>A) | |
8 | g.99717375T>C | CA371867507 | VPS13B | c.6732+2T>C (n.6732+2T>C) n.6802+2T>C c.*2414+2T>C (n.*2414+2T>C) c.6657+2T>C (n.6657+2T>C) c.6729+2T>C (n.6729+2T>C) c.6654+2T>C (n.6654+2T>C) c.6354+2T>C (n.6354+2T>C) c.3618+2T>C (n.3618+2T>C) c.2511+2T>C (n.2511+2T>C) c.6537+2T>C (n.6537+2T>C) c.2289+2T>C (n.2289+2T>C) c.5517+2T>C (n.5517+2T>C) | ClinVar dbSNP |
8 | g.99717375T>G | CA371867509 | VPS13B | c.6732+2T>G (n.6732+2T>G) n.6802+2T>G c.*2414+2T>G (n.*2414+2T>G) c.6657+2T>G (n.6657+2T>G) c.6729+2T>G (n.6729+2T>G) c.6654+2T>G (n.6654+2T>G) c.6354+2T>G (n.6354+2T>G) c.3618+2T>G (n.3618+2T>G) c.2511+2T>G (n.2511+2T>G) c.6537+2T>G (n.6537+2T>G) c.2289+2T>G (n.2289+2T>G) c.5517+2T>G (n.5517+2T>G) | |
8 | g.99717376C>T | CA2580617208 | VPS13B | c.6732+3C>T (n.6732+3C>T) n.6802+3C>T c.*2414+3C>T (n.*2414+3C>T) c.6657+3C>T (n.6657+3C>T) c.6729+3C>T (n.6729+3C>T) c.6654+3C>T (n.6654+3C>T) c.6354+3C>T (n.6354+3C>T) c.3618+3C>T (n.3618+3C>T) c.2511+3C>T (n.2511+3C>T) c.6537+3C>T (n.6537+3C>T) c.2289+3C>T (n.2289+3C>T) c.5517+3C>T (n.5517+3C>T) | ClinVar |
8 | g.99717377T>A | CA2688067393 | VPS13B | c.6732+4T>A (n.6732+4T>A) n.6802+4T>A c.*2414+4T>A (n.*2414+4T>A) c.6657+4T>A (n.6657+4T>A) c.6729+4T>A (n.6729+4T>A) c.6654+4T>A (n.6654+4T>A) c.6354+4T>A (n.6354+4T>A) c.3618+4T>A (n.3618+4T>A) c.2511+4T>A (n.2511+4T>A) c.6537+4T>A (n.6537+4T>A) c.2289+4T>A (n.2289+4T>A) c.5517+4T>A (n.5517+4T>A) | gnomAD v4 |
8 | g.99717378G>T | CA2688067394 | VPS13B | c.6732+5G>T (n.6732+5G>T) n.6802+5G>T c.*2414+5G>T (n.*2414+5G>T) c.6657+5G>T (n.6657+5G>T) c.6729+5G>T (n.6729+5G>T) c.6654+5G>T (n.6654+5G>T) c.6354+5G>T (n.6354+5G>T) c.3618+5G>T (n.3618+5G>T) c.2511+5G>T (n.2511+5G>T) c.6537+5G>T (n.6537+5G>T) c.2289+5G>T (n.2289+5G>T) c.5517+5G>T (n.5517+5G>T) | gnomAD v4 |
8 | g.99717379_99717381del | CA2781476759 | VPS13B | c.6732+6_6732+8del (n.6732+6_6732+8del) n.6802+6_6802+8del c.*2414+6_*2414+8del (n.*2414+6_*2414+8del) c.6657+6_6657+8del (n.6657+6_6657+8del) c.6729+6_6729+8del (n.6729+6_6729+8del) c.6654+6_6654+8del (n.6654+6_6654+8del) c.6354+6_6354+8del (n.6354+6_6354+8del) c.3618+6_3618+8del (n.3618+6_3618+8del) c.2511+6_2511+8del (n.2511+6_2511+8del) c.6537+6_6537+8del (n.6537+6_6537+8del) c.2289+6_2289+8del (n.2289+6_2289+8del) c.5517+6_5517+8del (n.5517+6_5517+8del) | |
8 | g.99717380G>A | CA2579216048 | VPS13B | c.6732+7G>A (n.6732+7G>A) n.6802+7G>A c.*2414+7G>A (n.*2414+7G>A) c.6657+7G>A (n.6657+7G>A) c.6729+7G>A (n.6729+7G>A) c.6654+7G>A (n.6654+7G>A) c.6354+7G>A (n.6354+7G>A) c.3618+7G>A (n.3618+7G>A) c.2511+7G>A (n.2511+7G>A) c.6537+7G>A (n.6537+7G>A) c.2289+7G>A (n.2289+7G>A) c.5517+7G>A (n.5517+7G>A) | |
8 | g.99717380_99717381insACA | CA2781476760 | VPS13B | c.6732+7_6732+8insACA (n.6732+7_6732+8insACA) n.6802+7_6802+8insACA c.*2414+7_*2414+8insACA (n.*2414+7_*2414+8insACA) c.6657+7_6657+8insACA (n.6657+7_6657+8insACA) c.6729+7_6729+8insACA (n.6729+7_6729+8insACA) c.6654+7_6654+8insACA (n.6654+7_6654+8insACA) c.6354+7_6354+8insACA (n.6354+7_6354+8insACA) c.3618+7_3618+8insACA (n.3618+7_3618+8insACA) c.2511+7_2511+8insACA (n.2511+7_2511+8insACA) c.6537+7_6537+8insACA (n.6537+7_6537+8insACA) c.2289+7_2289+8insACA (n.2289+7_2289+8insACA) c.5517+7_5517+8insACA (n.5517+7_5517+8insACA) | |
8 | g.99717381G>A | CA2573143593 | VPS13B | c.6732+8G>A (n.6732+8G>A) n.6802+8G>A c.*2414+8G>A (n.*2414+8G>A) c.6657+8G>A (n.6657+8G>A) c.6729+8G>A (n.6729+8G>A) c.6654+8G>A (n.6654+8G>A) c.6354+8G>A (n.6354+8G>A) c.3618+8G>A (n.3618+8G>A) c.2511+8G>A (n.2511+8G>A) c.6537+8G>A (n.6537+8G>A) c.2289+8G>A (n.2289+8G>A) c.5517+8G>A (n.5517+8G>A) | ClinVar dbSNP |
8 | g.99717381_99717382insA | CA2781476761 | VPS13B | c.6732+8_6732+9insA (n.6732+8_6732+9insA) n.6802+8_6802+9insA c.*2414+8_*2414+9insA (n.*2414+8_*2414+9insA) c.6657+8_6657+9insA (n.6657+8_6657+9insA) c.6729+8_6729+9insA (n.6729+8_6729+9insA) c.6654+8_6654+9insA (n.6654+8_6654+9insA) c.6354+8_6354+9insA (n.6354+8_6354+9insA) c.3618+8_3618+9insA (n.3618+8_3618+9insA) c.2511+8_2511+9insA (n.2511+8_2511+9insA) c.6537+8_6537+9insA (n.6537+8_6537+9insA) c.2289+8_2289+9insA (n.2289+8_2289+9insA) c.5517+8_5517+9insA (n.5517+8_5517+9insA) | |
8 | g.99717382G>A | CA2688067395 | VPS13B | c.6732+9G>A (n.6732+9G>A) n.6802+9G>A c.*2414+9G>A (n.*2414+9G>A) c.6657+9G>A (n.6657+9G>A) c.6729+9G>A (n.6729+9G>A) c.6654+9G>A (n.6654+9G>A) c.6354+9G>A (n.6354+9G>A) c.3618+9G>A (n.3618+9G>A) c.2511+9G>A (n.2511+9G>A) c.6537+9G>A (n.6537+9G>A) c.2289+9G>A (n.2289+9G>A) c.5517+9G>A (n.5517+9G>A) | gnomAD v4 |
8 | g.99717383T>C | CA857574543 | VPS13B | c.6732+10T>C (n.6732+10T>C) n.6802+10T>C c.*2414+10T>C (n.*2414+10T>C) c.6657+10T>C (n.6657+10T>C) c.6729+10T>C (n.6729+10T>C) c.6654+10T>C (n.6654+10T>C) c.6354+10T>C (n.6354+10T>C) c.3618+10T>C (n.3618+10T>C) c.2511+10T>C (n.2511+10T>C) c.6537+10T>C (n.6537+10T>C) c.2289+10T>C (n.2289+10T>C) c.5517+10T>C (n.5517+10T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717384A>C | CA1117110371 | VPS13B | c.6732+11A>C (n.6732+11A>C) n.6802+11A>C c.*2414+11A>C (n.*2414+11A>C) c.6657+11A>C (n.6657+11A>C) c.6729+11A>C (n.6729+11A>C) c.6654+11A>C (n.6654+11A>C) c.6354+11A>C (n.6354+11A>C) c.3618+11A>C (n.3618+11A>C) c.2511+11A>C (n.2511+11A>C) c.6537+11A>C (n.6537+11A>C) c.2289+11A>C (n.2289+11A>C) c.5517+11A>C (n.5517+11A>C) | gnomAD v3 gnomAD v4 |
8 | g.99717384A>G | CA2688067396 | VPS13B | c.6732+11A>G (n.6732+11A>G) n.6802+11A>G c.*2414+11A>G (n.*2414+11A>G) c.6657+11A>G (n.6657+11A>G) c.6729+11A>G (n.6729+11A>G) c.6654+11A>G (n.6654+11A>G) c.6354+11A>G (n.6354+11A>G) c.3618+11A>G (n.3618+11A>G) c.2511+11A>G (n.2511+11A>G) c.6537+11A>G (n.6537+11A>G) c.2289+11A>G (n.2289+11A>G) c.5517+11A>G (n.5517+11A>G) | gnomAD v4 |
8 | g.99717385T>C | CA2688067397 | VPS13B | c.6732+12T>C (n.6732+12T>C) n.6802+12T>C c.*2414+12T>C (n.*2414+12T>C) c.6657+12T>C (n.6657+12T>C) c.6729+12T>C (n.6729+12T>C) c.6654+12T>C (n.6654+12T>C) c.6354+12T>C (n.6354+12T>C) c.3618+12T>C (n.3618+12T>C) c.2511+12T>C (n.2511+12T>C) c.6537+12T>C (n.6537+12T>C) c.2289+12T>C (n.2289+12T>C) c.5517+12T>C (n.5517+12T>C) | gnomAD v4 |
8 | g.99717385T>G | CA4824049 | VPS13B | c.6732+12T>G (n.6732+12T>G) n.6802+12T>G c.*2414+12T>G (n.*2414+12T>G) c.6657+12T>G (n.6657+12T>G) c.6729+12T>G (n.6729+12T>G) c.6654+12T>G (n.6654+12T>G) c.6354+12T>G (n.6354+12T>G) c.3618+12T>G (n.3618+12T>G) c.2511+12T>G (n.2511+12T>G) c.6537+12T>G (n.6537+12T>G) c.2289+12T>G (n.2289+12T>G) c.5517+12T>G (n.5517+12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717385_99717389del | CA2781476762 | VPS13B | c.6732+12_6732+16del (n.6732+12_6732+16del) n.6802+12_6802+16del c.*2414+12_*2414+16del (n.*2414+12_*2414+16del) c.6657+12_6657+16del (n.6657+12_6657+16del) c.6729+12_6729+16del (n.6729+12_6729+16del) c.6654+12_6654+16del (n.6654+12_6654+16del) c.6354+12_6354+16del (n.6354+12_6354+16del) c.3618+12_3618+16del (n.3618+12_3618+16del) c.2511+12_2511+16del (n.2511+12_2511+16del) c.6537+12_6537+16del (n.6537+12_6537+16del) c.2289+12_2289+16del (n.2289+12_2289+16del) c.5517+12_5517+16del (n.5517+12_5517+16del) | |
8 | g.99717386T>G | CA2688067398 | VPS13B | c.6732+13T>G (n.6732+13T>G) n.6802+13T>G c.*2414+13T>G (n.*2414+13T>G) c.6657+13T>G (n.6657+13T>G) c.6729+13T>G (n.6729+13T>G) c.6654+13T>G (n.6654+13T>G) c.6354+13T>G (n.6354+13T>G) c.3618+13T>G (n.3618+13T>G) c.2511+13T>G (n.2511+13T>G) c.6537+13T>G (n.6537+13T>G) c.2289+13T>G (n.2289+13T>G) c.5517+13T>G (n.5517+13T>G) | gnomAD v4 |
8 | g.99717386_99717387insAGAA | CA2781476763 | VPS13B | c.6732+13_6732+14insAGAA (n.6732+13_6732+14insAGAA) n.6802+13_6802+14insAGAA c.*2414+13_*2414+14insAGAA (n.*2414+13_*2414+14insAGAA) c.6657+13_6657+14insAGAA (n.6657+13_6657+14insAGAA) c.6729+13_6729+14insAGAA (n.6729+13_6729+14insAGAA) c.6654+13_6654+14insAGAA (n.6654+13_6654+14insAGAA) c.6354+13_6354+14insAGAA (n.6354+13_6354+14insAGAA) c.3618+13_3618+14insAGAA (n.3618+13_3618+14insAGAA) c.2511+13_2511+14insAGAA (n.2511+13_2511+14insAGAA) c.6537+13_6537+14insAGAA (n.6537+13_6537+14insAGAA) c.2289+13_2289+14insAGAA (n.2289+13_2289+14insAGAA) c.5517+13_5517+14insAGAA (n.5517+13_5517+14insAGAA) | |
8 | g.99717387G>A | CA2573143594 | VPS13B | c.6732+14G>A (n.6732+14G>A) n.6802+14G>A c.*2414+14G>A (n.*2414+14G>A) c.6657+14G>A (n.6657+14G>A) c.6729+14G>A (n.6729+14G>A) c.6654+14G>A (n.6654+14G>A) c.6354+14G>A (n.6354+14G>A) c.3618+14G>A (n.3618+14G>A) c.2511+14G>A (n.2511+14G>A) c.6537+14G>A (n.6537+14G>A) c.2289+14G>A (n.2289+14G>A) c.5517+14G>A (n.5517+14G>A) | ClinVar dbSNP |
8 | g.99717388G>A | CA2781476764 | VPS13B | c.6732+15G>A (n.6732+15G>A) n.6802+15G>A c.*2414+15G>A (n.*2414+15G>A) c.6657+15G>A (n.6657+15G>A) c.6729+15G>A (n.6729+15G>A) c.6654+15G>A (n.6654+15G>A) c.6354+15G>A (n.6354+15G>A) c.3618+15G>A (n.3618+15G>A) c.2511+15G>A (n.2511+15G>A) c.6537+15G>A (n.6537+15G>A) c.2289+15G>A (n.2289+15G>A) c.5517+15G>A (n.5517+15G>A) | |
8 | g.99717388G>C | CA2688067399 | VPS13B | c.6732+15G>C (n.6732+15G>C) n.6802+15G>C c.*2414+15G>C (n.*2414+15G>C) c.6657+15G>C (n.6657+15G>C) c.6729+15G>C (n.6729+15G>C) c.6654+15G>C (n.6654+15G>C) c.6354+15G>C (n.6354+15G>C) c.3618+15G>C (n.3618+15G>C) c.2511+15G>C (n.2511+15G>C) c.6537+15G>C (n.6537+15G>C) c.2289+15G>C (n.2289+15G>C) c.5517+15G>C (n.5517+15G>C) | gnomAD v4 |
8 | g.99717388G>T | CA2697550041 | VPS13B | c.6732+15G>T (n.6732+15G>T) n.6802+15G>T c.*2414+15G>T (n.*2414+15G>T) c.6657+15G>T (n.6657+15G>T) c.6729+15G>T (n.6729+15G>T) c.6654+15G>T (n.6654+15G>T) c.6354+15G>T (n.6354+15G>T) c.3618+15G>T (n.3618+15G>T) c.2511+15G>T (n.2511+15G>T) c.6537+15G>T (n.6537+15G>T) c.2289+15G>T (n.2289+15G>T) c.5517+15G>T (n.5517+15G>T) | ClinVar |
8 | g.99717389C>T | CA2579216049 | VPS13B | c.6732+16C>T (n.6732+16C>T) n.6802+16C>T c.*2414+16C>T (n.*2414+16C>T) c.6657+16C>T (n.6657+16C>T) c.6729+16C>T (n.6729+16C>T) c.6654+16C>T (n.6654+16C>T) c.6354+16C>T (n.6354+16C>T) c.3618+16C>T (n.3618+16C>T) c.2511+16C>T (n.2511+16C>T) c.6537+16C>T (n.6537+16C>T) c.2289+16C>T (n.2289+16C>T) c.5517+16C>T (n.5517+16C>T) | gnomAD v4 |
8 | g.99717391A>C | CA2688067400 | VPS13B | c.6732+18A>C (n.6732+18A>C) n.6802+18A>C c.*2414+18A>C (n.*2414+18A>C) c.6657+18A>C (n.6657+18A>C) c.6729+18A>C (n.6729+18A>C) c.6654+18A>C (n.6654+18A>C) c.6354+18A>C (n.6354+18A>C) c.3618+18A>C (n.3618+18A>C) c.2511+18A>C (n.2511+18A>C) c.6537+18A>C (n.6537+18A>C) c.2289+18A>C (n.2289+18A>C) c.5517+18A>C (n.5517+18A>C) | gnomAD v4 |
8 | g.99717391A>G | CA584327695 | VPS13B | c.6732+18A>G (n.6732+18A>G) n.6802+18A>G c.*2414+18A>G (n.*2414+18A>G) c.6657+18A>G (n.6657+18A>G) c.6729+18A>G (n.6729+18A>G) c.6654+18A>G (n.6654+18A>G) c.6354+18A>G (n.6354+18A>G) c.3618+18A>G (n.3618+18A>G) c.2511+18A>G (n.2511+18A>G) c.6537+18A>G (n.6537+18A>G) c.2289+18A>G (n.2289+18A>G) c.5517+18A>G (n.5517+18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717393A>G | CA1117110376 | VPS13B | c.6732+20A>G (n.6732+20A>G) n.6802+20A>G c.*2414+20A>G (n.*2414+20A>G) c.6657+20A>G (n.6657+20A>G) c.6729+20A>G (n.6729+20A>G) c.6654+20A>G (n.6654+20A>G) c.6354+20A>G (n.6354+20A>G) c.3618+20A>G (n.3618+20A>G) c.2511+20A>G (n.2511+20A>G) c.6537+20A>G (n.6537+20A>G) c.2289+20A>G (n.2289+20A>G) c.5517+20A>G (n.5517+20A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717393A>T | CA183029033 | VPS13B | c.6732+20A>T (n.6732+20A>T) n.6802+20A>T c.*2414+20A>T (n.*2414+20A>T) c.6657+20A>T (n.6657+20A>T) c.6729+20A>T (n.6729+20A>T) c.6654+20A>T (n.6654+20A>T) c.6354+20A>T (n.6354+20A>T) c.3618+20A>T (n.3618+20A>T) c.2511+20A>T (n.2511+20A>T) c.6537+20A>T (n.6537+20A>T) c.2289+20A>T (n.2289+20A>T) c.5517+20A>T (n.5517+20A>T) | dbSNP gnomAD v4 |
8 | g.99717394T>A | CA4824051 | VPS13B | c.6732+21T>A (n.6732+21T>A) n.6802+21T>A c.*2414+21T>A (n.*2414+21T>A) c.6657+21T>A (n.6657+21T>A) c.6729+21T>A (n.6729+21T>A) c.6654+21T>A (n.6654+21T>A) c.6354+21T>A (n.6354+21T>A) c.3618+21T>A (n.3618+21T>A) c.2511+21T>A (n.2511+21T>A) c.6537+21T>A (n.6537+21T>A) c.2289+21T>A (n.2289+21T>A) c.5517+21T>A (n.5517+21T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717400del | CA4824050 | VPS13B | c.6732+27del (n.6732+27del) n.6802+27del c.*2414+27del (n.*2414+27del) c.6657+27del (n.6657+27del) c.6729+27del (n.6729+27del) c.6654+27del (n.6654+27del) c.6354+27del (n.6354+27del) c.3618+27del (n.3618+27del) c.2511+27del (n.2511+27del) c.6537+27del (n.6537+27del) c.2289+27del (n.2289+27del) c.5517+27del (n.5517+27del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.99717395T>A | CA2688067401 | VPS13B | c.6732+22T>A (n.6732+22T>A) n.6802+22T>A c.*2414+22T>A (n.*2414+22T>A) c.6657+22T>A (n.6657+22T>A) c.6729+22T>A (n.6729+22T>A) c.6654+22T>A (n.6654+22T>A) c.6354+22T>A (n.6354+22T>A) c.3618+22T>A (n.3618+22T>A) c.2511+22T>A (n.2511+22T>A) c.6537+22T>A (n.6537+22T>A) c.2289+22T>A (n.2289+22T>A) c.5517+22T>A (n.5517+22T>A) | gnomAD v4 |
8 | g.99717395T>C | CA584327696 | VPS13B | c.6732+22T>C (n.6732+22T>C) n.6802+22T>C c.*2414+22T>C (n.*2414+22T>C) c.6657+22T>C (n.6657+22T>C) c.6729+22T>C (n.6729+22T>C) c.6654+22T>C (n.6654+22T>C) c.6354+22T>C (n.6354+22T>C) c.3618+22T>C (n.3618+22T>C) c.2511+22T>C (n.2511+22T>C) c.6537+22T>C (n.6537+22T>C) c.2289+22T>C (n.2289+22T>C) c.5517+22T>C (n.5517+22T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717396T>A | CA4824052 | VPS13B | c.6732+23T>A (n.6732+23T>A) n.6802+23T>A c.*2414+23T>A (n.*2414+23T>A) c.6657+23T>A (n.6657+23T>A) c.6729+23T>A (n.6729+23T>A) c.6654+23T>A (n.6654+23T>A) c.6354+23T>A (n.6354+23T>A) c.3618+23T>A (n.3618+23T>A) c.2511+23T>A (n.2511+23T>A) c.6537+23T>A (n.6537+23T>A) c.2289+23T>A (n.2289+23T>A) c.5517+23T>A (n.5517+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717398T>C | CA2688067402 | VPS13B | c.6732+25T>C (n.6732+25T>C) n.6802+25T>C c.*2414+25T>C (n.*2414+25T>C) c.6657+25T>C (n.6657+25T>C) c.6729+25T>C (n.6729+25T>C) c.6654+25T>C (n.6654+25T>C) c.6354+25T>C (n.6354+25T>C) c.3618+25T>C (n.3618+25T>C) c.2511+25T>C (n.2511+25T>C) c.6537+25T>C (n.6537+25T>C) c.2289+25T>C (n.2289+25T>C) c.5517+25T>C (n.5517+25T>C) | gnomAD v4 |
8 | g.99717399T>C | CA584327697 | VPS13B | c.6732+26T>C (n.6732+26T>C) n.6802+26T>C c.*2414+26T>C (n.*2414+26T>C) c.6657+26T>C (n.6657+26T>C) c.6729+26T>C (n.6729+26T>C) c.6654+26T>C (n.6654+26T>C) c.6354+26T>C (n.6354+26T>C) c.3618+26T>C (n.3618+26T>C) c.2511+26T>C (n.2511+26T>C) c.6537+26T>C (n.6537+26T>C) c.2289+26T>C (n.2289+26T>C) c.5517+26T>C (n.5517+26T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717399_99717400insAC | CA2781476765 | VPS13B | c.6732+26_6732+27insAC (n.6732+26_6732+27insAC) n.6802+26_6802+27insAC c.*2414+26_*2414+27insAC (n.*2414+26_*2414+27insAC) c.6657+26_6657+27insAC (n.6657+26_6657+27insAC) c.6729+26_6729+27insAC (n.6729+26_6729+27insAC) c.6654+26_6654+27insAC (n.6654+26_6654+27insAC) c.6354+26_6354+27insAC (n.6354+26_6354+27insAC) c.3618+26_3618+27insAC (n.3618+26_3618+27insAC) c.2511+26_2511+27insAC (n.2511+26_2511+27insAC) c.6537+26_6537+27insAC (n.6537+26_6537+27insAC) c.2289+26_2289+27insAC (n.2289+26_2289+27insAC) c.5517+26_5517+27insAC (n.5517+26_5517+27insAC) | |
8 | g.99717400T>G | CA4824053 | VPS13B | c.6732+27T>G (n.6732+27T>G) n.6802+27T>G c.*2414+27T>G (n.*2414+27T>G) c.6657+27T>G (n.6657+27T>G) c.6729+27T>G (n.6729+27T>G) c.6654+27T>G (n.6654+27T>G) c.6354+27T>G (n.6354+27T>G) c.3618+27T>G (n.3618+27T>G) c.2511+27T>G (n.2511+27T>G) c.6537+27T>G (n.6537+27T>G) c.2289+27T>G (n.2289+27T>G) c.5517+27T>G (n.5517+27T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717401C>A | CA2688067403 | VPS13B | c.6732+28C>A (n.6732+28C>A) n.6802+28C>A c.*2414+28C>A (n.*2414+28C>A) c.6657+28C>A (n.6657+28C>A) c.6729+28C>A (n.6729+28C>A) c.6654+28C>A (n.6654+28C>A) c.6354+28C>A (n.6354+28C>A) c.3618+28C>A (n.3618+28C>A) c.2511+28C>A (n.2511+28C>A) c.6537+28C>A (n.6537+28C>A) c.2289+28C>A (n.2289+28C>A) c.5517+28C>A (n.5517+28C>A) | gnomAD v4 |
8 | g.99717401C>T | CA2554996218 | VPS13B | c.6732+28C>T (n.6732+28C>T) n.6802+28C>T c.*2414+28C>T (n.*2414+28C>T) c.6657+28C>T (n.6657+28C>T) c.6729+28C>T (n.6729+28C>T) c.6654+28C>T (n.6654+28C>T) c.6354+28C>T (n.6354+28C>T) c.3618+28C>T (n.3618+28C>T) c.2511+28C>T (n.2511+28C>T) c.6537+28C>T (n.6537+28C>T) c.2289+28C>T (n.2289+28C>T) c.5517+28C>T (n.5517+28C>T) | |
8 | g.99717402A>G | CA4824055 | VPS13B | c.6732+29A>G (n.6732+29A>G) n.6802+29A>G c.*2414+29A>G (n.*2414+29A>G) c.6657+29A>G (n.6657+29A>G) c.6729+29A>G (n.6729+29A>G) c.6654+29A>G (n.6654+29A>G) c.6354+29A>G (n.6354+29A>G) c.3618+29A>G (n.3618+29A>G) c.2511+29A>G (n.2511+29A>G) c.6537+29A>G (n.6537+29A>G) c.2289+29A>G (n.2289+29A>G) c.5517+29A>G (n.5517+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717402A>T | CA2688067404 | VPS13B | c.6732+29A>T (n.6732+29A>T) n.6802+29A>T c.*2414+29A>T (n.*2414+29A>T) c.6657+29A>T (n.6657+29A>T) c.6729+29A>T (n.6729+29A>T) c.6654+29A>T (n.6654+29A>T) c.6354+29A>T (n.6354+29A>T) c.3618+29A>T (n.3618+29A>T) c.2511+29A>T (n.2511+29A>T) c.6537+29A>T (n.6537+29A>T) c.2289+29A>T (n.2289+29A>T) c.5517+29A>T (n.5517+29A>T) | dbSNP gnomAD v4 |
8 | g.99717402dup | CA2781476766 | VPS13B | c.6732+29dup (n.6732+29dup) n.6802+29dup c.*2414+29dup (n.*2414+29dup) c.6657+29dup (n.6657+29dup) c.6729+29dup (n.6729+29dup) c.6654+29dup (n.6654+29dup) c.6354+29dup (n.6354+29dup) c.3618+29dup (n.3618+29dup) c.2511+29dup (n.2511+29dup) c.6537+29dup (n.6537+29dup) c.2289+29dup (n.2289+29dup) c.5517+29dup (n.5517+29dup) | |
8 | g.99717404_99717410del | CA4824054 | VPS13B | c.6732+31_6732+37del (n.6732+31_6732+37del) n.6802+31_6802+37del c.*2414+31_*2414+37del (n.*2414+31_*2414+37del) c.6657+31_6657+37del (n.6657+31_6657+37del) c.6729+31_6729+37del (n.6729+31_6729+37del) c.6654+31_6654+37del (n.6654+31_6654+37del) c.6354+31_6354+37del (n.6354+31_6354+37del) c.3618+31_3618+37del (n.3618+31_3618+37del) c.2511+31_2511+37del (n.2511+31_2511+37del) c.6537+31_6537+37del (n.6537+31_6537+37del) c.2289+31_2289+37del (n.2289+31_2289+37del) c.5517+31_5517+37del (n.5517+31_5517+37del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717403del | CA2781476767 | VPS13B | c.6732+30del (n.6732+30del) n.6802+30del c.*2414+30del (n.*2414+30del) c.6657+30del (n.6657+30del) c.6729+30del (n.6729+30del) c.6654+30del (n.6654+30del) c.6354+30del (n.6354+30del) c.3618+30del (n.3618+30del) c.2511+30del (n.2511+30del) c.6537+30del (n.6537+30del) c.2289+30del (n.2289+30del) c.5517+30del (n.5517+30del) | |
8 | g.99717403T>C | CA2781476768 | VPS13B | c.6732+30T>C (n.6732+30T>C) n.6802+30T>C c.*2414+30T>C (n.*2414+30T>C) c.6657+30T>C (n.6657+30T>C) c.6729+30T>C (n.6729+30T>C) c.6654+30T>C (n.6654+30T>C) c.6354+30T>C (n.6354+30T>C) c.3618+30T>C (n.3618+30T>C) c.2511+30T>C (n.2511+30T>C) c.6537+30T>C (n.6537+30T>C) c.2289+30T>C (n.2289+30T>C) c.5517+30T>C (n.5517+30T>C) |