UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99818479A>C | CA371773667 | VPS13B | c.8465A>C (p.Tyr2822Ser) n.8535A>C c.*4147A>C (n.*4147A>C) c.8390A>C (p.Tyr2797Ser) c.8462A>C (p.Tyr2821Ser) c.8387A>C (p.Tyr2796Ser) c.8087A>C (p.Tyr2696Ser) c.5351A>C (p.Tyr1784Ser) c.4244A>C (p.Tyr1415Ser) c.8270A>C (p.Tyr2757Ser) c.4022A>C (p.Tyr1341Ser) c.7250A>C (p.Tyr2417Ser) | gnomAD v4 |
| 8 | g.99818479A>G | CA4824443 | VPS13B | c.8465A>G (p.Tyr2822Cys) n.8535A>G c.*4147A>G (n.*4147A>G) c.8390A>G (p.Tyr2797Cys) c.8462A>G (p.Tyr2821Cys) c.8387A>G (p.Tyr2796Cys) c.8087A>G (p.Tyr2696Cys) c.5351A>G (p.Tyr1784Cys) c.4244A>G (p.Tyr1415Cys) c.8270A>G (p.Tyr2757Cys) c.4022A>G (p.Tyr1341Cys) c.7250A>G (p.Tyr2417Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818479A>T | CA371773668 | VPS13B | c.8465A>T (p.Tyr2822Phe) n.8535A>T c.*4147A>T (n.*4147A>T) c.8390A>T (p.Tyr2797Phe) c.8462A>T (p.Tyr2821Phe) c.8387A>T (p.Tyr2796Phe) c.8087A>T (p.Tyr2696Phe) c.5351A>T (p.Tyr1784Phe) c.4244A>T (p.Tyr1415Phe) c.8270A>T (p.Tyr2757Phe) c.4022A>T (p.Tyr1341Phe) c.7250A>T (p.Tyr2417Phe) | |
| 8 | g.99818480T>A | CA371773669 | VPS13B | c.8466T>A (p.Tyr2822Ter) n.8536T>A c.*4148T>A (n.*4148T>A) c.8391T>A (p.Tyr2797Ter) c.8463T>A (p.Tyr2821Ter) c.8388T>A (p.Tyr2796Ter) c.8088T>A (p.Tyr2696Ter) c.5352T>A (p.Tyr1784Ter) c.4245T>A (p.Tyr1415Ter) c.8271T>A (p.Tyr2757Ter) c.4023T>A (p.Tyr1341Ter) c.7251T>A (p.Tyr2417Ter) | |
| 8 | g.99818480T>C | CA462457426 | VPS13B | c.8466T>C (p.Tyr2822=) n.8536T>C c.*4148T>C (n.*4148T>C) c.8391T>C (p.Tyr2797=) c.8463T>C (p.Tyr2821=) c.8388T>C (p.Tyr2796=) c.8088T>C (p.Tyr2696=) c.5352T>C (p.Tyr1784=) c.4245T>C (p.Tyr1415=) c.8271T>C (p.Tyr2757=) c.4023T>C (p.Tyr1341=) c.7251T>C (p.Tyr2417=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818480T>G | CA371773670 | VPS13B | c.8466T>G (p.Tyr2822Ter) n.8536T>G c.*4148T>G (n.*4148T>G) c.8391T>G (p.Tyr2797Ter) c.8463T>G (p.Tyr2821Ter) c.8388T>G (p.Tyr2796Ter) c.8088T>G (p.Tyr2696Ter) c.5352T>G (p.Tyr1784Ter) c.4245T>G (p.Tyr1415Ter) c.8271T>G (p.Tyr2757Ter) c.4023T>G (p.Tyr1341Ter) c.7251T>G (p.Tyr2417Ter) | |
| 8 | g.99818481G>A | CA371773671 | VPS13B | c.8467G>A (p.Val2823Ile) n.8537G>A c.*4149G>A (n.*4149G>A) c.8392G>A (p.Val2798Ile) c.8464G>A (p.Val2822Ile) c.8389G>A (p.Val2797Ile) c.8089G>A (p.Val2697Ile) c.5353G>A (p.Val1785Ile) c.4246G>A (p.Val1416Ile) c.8272G>A (p.Val2758Ile) c.4024G>A (p.Val1342Ile) c.7252G>A (p.Val2418Ile) | |
| 8 | g.99818481G>C | CA371773672 | VPS13B | c.8467G>C (p.Val2823Leu) n.8537G>C c.*4149G>C (n.*4149G>C) c.8392G>C (p.Val2798Leu) c.8464G>C (p.Val2822Leu) c.8389G>C (p.Val2797Leu) c.8089G>C (p.Val2697Leu) c.5353G>C (p.Val1785Leu) c.4246G>C (p.Val1416Leu) c.8272G>C (p.Val2758Leu) c.4024G>C (p.Val1342Leu) c.7252G>C (p.Val2418Leu) | |
| 8 | g.99818481G>T | CA371773673 | VPS13B | c.8467G>T (p.Val2823Phe) n.8537G>T c.*4149G>T (n.*4149G>T) c.8392G>T (p.Val2798Phe) c.8464G>T (p.Val2822Phe) c.8389G>T (p.Val2797Phe) c.8089G>T (p.Val2697Phe) c.5353G>T (p.Val1785Phe) c.4246G>T (p.Val1416Phe) c.8272G>T (p.Val2758Phe) c.4024G>T (p.Val1342Phe) c.7252G>T (p.Val2418Phe) | |
| 8 | g.99818482T>A | CA371773675 | VPS13B | c.8468T>A (p.Val2823Asp) n.8538T>A c.*4150T>A (n.*4150T>A) c.8393T>A (p.Val2798Asp) c.8465T>A (p.Val2822Asp) c.8390T>A (p.Val2797Asp) c.8090T>A (p.Val2697Asp) c.5354T>A (p.Val1785Asp) c.4247T>A (p.Val1416Asp) c.8273T>A (p.Val2758Asp) c.4025T>A (p.Val1342Asp) c.7253T>A (p.Val2418Asp) | |
| 8 | g.99818482T>C | CA371773676 | VPS13B | c.8468T>C (p.Val2823Ala) n.8538T>C c.*4150T>C (n.*4150T>C) c.8393T>C (p.Val2798Ala) c.8465T>C (p.Val2822Ala) c.8390T>C (p.Val2797Ala) c.8090T>C (p.Val2697Ala) c.5354T>C (p.Val1785Ala) c.4247T>C (p.Val1416Ala) c.8273T>C (p.Val2758Ala) c.4025T>C (p.Val1342Ala) c.7253T>C (p.Val2418Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818482T>G | CA371773677 | VPS13B | c.8468T>G (p.Val2823Gly) n.8538T>G c.*4150T>G (n.*4150T>G) c.8393T>G (p.Val2798Gly) c.8465T>G (p.Val2822Gly) c.8390T>G (p.Val2797Gly) c.8090T>G (p.Val2697Gly) c.5354T>G (p.Val1785Gly) c.4247T>G (p.Val1416Gly) c.8273T>G (p.Val2758Gly) c.4025T>G (p.Val1342Gly) c.7253T>G (p.Val2418Gly) | gnomAD v4 |
| 8 | g.99818483C>A | CA462457430 | VPS13B | c.8469C>A (p.Val2823=) n.8539C>A c.*4151C>A (n.*4151C>A) c.8394C>A (p.Val2798=) c.8466C>A (p.Val2822=) c.8391C>A (p.Val2797=) c.8091C>A (p.Val2697=) c.5355C>A (p.Val1785=) c.4248C>A (p.Val1416=) c.8274C>A (p.Val2758=) c.4026C>A (p.Val1342=) c.7254C>A (p.Val2418=) | ClinVar |
| 8 | g.99818483C>G | CA462457431 | VPS13B | c.8469C>G (p.Val2823=) n.8539C>G c.*4151C>G (n.*4151C>G) c.8394C>G (p.Val2798=) c.8466C>G (p.Val2822=) c.8391C>G (p.Val2797=) c.8091C>G (p.Val2697=) c.5355C>G (p.Val1785=) c.4248C>G (p.Val1416=) c.8274C>G (p.Val2758=) c.4026C>G (p.Val1342=) c.7254C>G (p.Val2418=) | |
| 8 | g.99818483C>T | CA462457432 | VPS13B | c.8469C>T (p.Val2823=) n.8539C>T c.*4151C>T (n.*4151C>T) c.8394C>T (p.Val2798=) c.8466C>T (p.Val2822=) c.8391C>T (p.Val2797=) c.8091C>T (p.Val2697=) c.5355C>T (p.Val1785=) c.4248C>T (p.Val1416=) c.8274C>T (p.Val2758=) c.4026C>T (p.Val1342=) c.7254C>T (p.Val2418=) | |
| 8 | g.99818484T>A | CA371773680 | VPS13B | c.8470T>A (p.Trp2824Arg) n.8540T>A c.*4152T>A (n.*4152T>A) c.8395T>A (p.Trp2799Arg) c.8467T>A (p.Trp2823Arg) c.8392T>A (p.Trp2798Arg) c.8092T>A (p.Trp2698Arg) c.5356T>A (p.Trp1786Arg) c.4249T>A (p.Trp1417Arg) c.8275T>A (p.Trp2759Arg) c.4027T>A (p.Trp1343Arg) c.7255T>A (p.Trp2419Arg) | |
| 8 | g.99818484T>C | CA371773679 | VPS13B | c.8470T>C (p.Trp2824Arg) n.8540T>C c.*4152T>C (n.*4152T>C) c.8395T>C (p.Trp2799Arg) c.8467T>C (p.Trp2823Arg) c.8392T>C (p.Trp2798Arg) c.8092T>C (p.Trp2698Arg) c.5356T>C (p.Trp1786Arg) c.4249T>C (p.Trp1417Arg) c.8275T>C (p.Trp2759Arg) c.4027T>C (p.Trp1343Arg) c.7255T>C (p.Trp2419Arg) | |
| 8 | g.99818484T>G | CA371773678 | VPS13B | c.8470T>G (p.Trp2824Gly) n.8540T>G c.*4152T>G (n.*4152T>G) c.8395T>G (p.Trp2799Gly) c.8467T>G (p.Trp2823Gly) c.8392T>G (p.Trp2798Gly) c.8092T>G (p.Trp2698Gly) c.5356T>G (p.Trp1786Gly) c.4249T>G (p.Trp1417Gly) c.8275T>G (p.Trp2759Gly) c.4027T>G (p.Trp1343Gly) c.7255T>G (p.Trp2419Gly) | |
| 8 | g.99818485G>A | CA16041253 | VPS13B | c.8471G>A (p.Trp2824Ter) n.8541G>A c.*4153G>A (n.*4153G>A) c.8396G>A (p.Trp2799Ter) c.8468G>A (p.Trp2823Ter) c.8393G>A (p.Trp2798Ter) c.8093G>A (p.Trp2698Ter) c.5357G>A (p.Trp1786Ter) c.4250G>A (p.Trp1417Ter) c.8276G>A (p.Trp2759Ter) c.4028G>A (p.Trp1343Ter) c.7256G>A (p.Trp2419Ter) | ClinVar dbSNP |
| 8 | g.99818485G>C | CA371773686 | VPS13B | c.8471G>C (p.Trp2824Ser) n.8541G>C c.*4153G>C (n.*4153G>C) c.8396G>C (p.Trp2799Ser) c.8468G>C (p.Trp2823Ser) c.8393G>C (p.Trp2798Ser) c.8093G>C (p.Trp2698Ser) c.5357G>C (p.Trp1786Ser) c.4250G>C (p.Trp1417Ser) c.8276G>C (p.Trp2759Ser) c.4028G>C (p.Trp1343Ser) c.7256G>C (p.Trp2419Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818485G>T | CA371773683 | VPS13B | c.8471G>T (p.Trp2824Leu) n.8541G>T c.*4153G>T (n.*4153G>T) c.8396G>T (p.Trp2799Leu) c.8468G>T (p.Trp2823Leu) c.8393G>T (p.Trp2798Leu) c.8093G>T (p.Trp2698Leu) c.5357G>T (p.Trp1786Leu) c.4250G>T (p.Trp1417Leu) c.8276G>T (p.Trp2759Leu) c.4028G>T (p.Trp1343Leu) c.7256G>T (p.Trp2419Leu) | gnomAD v4 |
| 8 | g.99818486G>A | CA264138 | VPS13B | c.8472G>A (p.Trp2824Ter) n.8542G>A c.*4154G>A (n.*4154G>A) c.8397G>A (p.Trp2799Ter) c.8469G>A (p.Trp2823Ter) c.8394G>A (p.Trp2798Ter) c.8094G>A (p.Trp2698Ter) c.5358G>A (p.Trp1786Ter) c.4251G>A (p.Trp1417Ter) c.8277G>A (p.Trp2759Ter) c.4029G>A (p.Trp1343Ter) c.7257G>A (p.Trp2419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818486G>C | CA371773690 | VPS13B | c.8472G>C (p.Trp2824Cys) n.8542G>C c.*4154G>C (n.*4154G>C) c.8397G>C (p.Trp2799Cys) c.8469G>C (p.Trp2823Cys) c.8394G>C (p.Trp2798Cys) c.8094G>C (p.Trp2698Cys) c.5358G>C (p.Trp1786Cys) c.4251G>C (p.Trp1417Cys) c.8277G>C (p.Trp2759Cys) c.4029G>C (p.Trp1343Cys) c.7257G>C (p.Trp2419Cys) | gnomAD v4 |
| 8 | g.99818486G>T | CA371773688 | VPS13B | c.8472G>T (p.Trp2824Cys) n.8542G>T c.*4154G>T (n.*4154G>T) c.8397G>T (p.Trp2799Cys) c.8469G>T (p.Trp2823Cys) c.8394G>T (p.Trp2798Cys) c.8094G>T (p.Trp2698Cys) c.5358G>T (p.Trp1786Cys) c.4251G>T (p.Trp1417Cys) c.8277G>T (p.Trp2759Cys) c.4029G>T (p.Trp1343Cys) c.7257G>T (p.Trp2419Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818487T>A | CA371773693 | VPS13B | c.8473T>A (p.Cys2825Ser) n.8543T>A c.*4155T>A (n.*4155T>A) c.8398T>A (p.Cys2800Ser) c.8470T>A (p.Cys2824Ser) c.8395T>A (p.Cys2799Ser) c.8095T>A (p.Cys2699Ser) c.5359T>A (p.Cys1787Ser) c.4252T>A (p.Cys1418Ser) c.8278T>A (p.Cys2760Ser) c.4030T>A (p.Cys1344Ser) c.7258T>A (p.Cys2420Ser) | |
| 8 | g.99818487T>C | CA4824444 | VPS13B | c.8473T>C (p.Cys2825Arg) n.8543T>C c.*4155T>C (n.*4155T>C) c.8398T>C (p.Cys2800Arg) c.8470T>C (p.Cys2824Arg) c.8395T>C (p.Cys2799Arg) c.8095T>C (p.Cys2699Arg) c.5359T>C (p.Cys1787Arg) c.4252T>C (p.Cys1418Arg) c.8278T>C (p.Cys2760Arg) c.4030T>C (p.Cys1344Arg) c.7258T>C (p.Cys2420Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818487T>G | CA371773695 | VPS13B | c.8473T>G (p.Cys2825Gly) n.8543T>G c.*4155T>G (n.*4155T>G) c.8398T>G (p.Cys2800Gly) c.8470T>G (p.Cys2824Gly) c.8395T>G (p.Cys2799Gly) c.8095T>G (p.Cys2699Gly) c.5359T>G (p.Cys1787Gly) c.4252T>G (p.Cys1418Gly) c.8278T>G (p.Cys2760Gly) c.4030T>G (p.Cys1344Gly) c.7258T>G (p.Cys2420Gly) | dbSNP |
| 8 | g.99818488G>A | CA371773698 | VPS13B | c.8474G>A (p.Cys2825Tyr) n.8544G>A c.*4156G>A (n.*4156G>A) c.8399G>A (p.Cys2800Tyr) c.8471G>A (p.Cys2824Tyr) c.8396G>A (p.Cys2799Tyr) c.8096G>A (p.Cys2699Tyr) c.5360G>A (p.Cys1787Tyr) c.4253G>A (p.Cys1418Tyr) c.8279G>A (p.Cys2760Tyr) c.4031G>A (p.Cys1344Tyr) c.7259G>A (p.Cys2420Tyr) | |
| 8 | g.99818488G>C | CA371773699 | VPS13B | c.8474G>C (p.Cys2825Ser) n.8544G>C c.*4156G>C (n.*4156G>C) c.8399G>C (p.Cys2800Ser) c.8471G>C (p.Cys2824Ser) c.8396G>C (p.Cys2799Ser) c.8096G>C (p.Cys2699Ser) c.5360G>C (p.Cys1787Ser) c.4253G>C (p.Cys1418Ser) c.8279G>C (p.Cys2760Ser) c.4031G>C (p.Cys1344Ser) c.7259G>C (p.Cys2420Ser) | |
| 8 | g.99818488G>T | CA371773701 | VPS13B | c.8474G>T (p.Cys2825Phe) n.8544G>T c.*4156G>T (n.*4156G>T) c.8399G>T (p.Cys2800Phe) c.8471G>T (p.Cys2824Phe) c.8396G>T (p.Cys2799Phe) c.8096G>T (p.Cys2699Phe) c.5360G>T (p.Cys1787Phe) c.4253G>T (p.Cys1418Phe) c.8279G>T (p.Cys2760Phe) c.4031G>T (p.Cys1344Phe) c.7259G>T (p.Cys2420Phe) | gnomAD v4 |
| 8 | g.99818489C>A | CA371773703 | VPS13B | c.8475C>A (p.Cys2825Ter) n.8545C>A c.*4157C>A (n.*4157C>A) c.8400C>A (p.Cys2800Ter) c.8472C>A (p.Cys2824Ter) c.8397C>A (p.Cys2799Ter) c.8097C>A (p.Cys2699Ter) c.5361C>A (p.Cys1787Ter) c.4254C>A (p.Cys1418Ter) c.8280C>A (p.Cys2760Ter) c.4032C>A (p.Cys1344Ter) c.7260C>A (p.Cys2420Ter) | |
| 8 | g.99818489C>G | CA371773705 | VPS13B | c.8475C>G (p.Cys2825Trp) n.8545C>G c.*4157C>G (n.*4157C>G) c.8400C>G (p.Cys2800Trp) c.8472C>G (p.Cys2824Trp) c.8397C>G (p.Cys2799Trp) c.8097C>G (p.Cys2699Trp) c.5361C>G (p.Cys1787Trp) c.4254C>G (p.Cys1418Trp) c.8280C>G (p.Cys2760Trp) c.4032C>G (p.Cys1344Trp) c.7260C>G (p.Cys2420Trp) | |
| 8 | g.99818489C>T | CA462457440 | VPS13B | c.8475C>T (p.Cys2825=) n.8545C>T c.*4157C>T (n.*4157C>T) c.8400C>T (p.Cys2800=) c.8472C>T (p.Cys2824=) c.8397C>T (p.Cys2799=) c.8097C>T (p.Cys2699=) c.5361C>T (p.Cys1787=) c.4254C>T (p.Cys1418=) c.8280C>T (p.Cys2760=) c.4032C>T (p.Cys1344=) c.7260C>T (p.Cys2420=) | |
| 8 | g.99818490A>C | CA371773707 | VPS13B | c.8476A>C (p.Thr2826Pro) n.8546A>C c.*4158A>C (n.*4158A>C) c.8401A>C (p.Thr2801Pro) c.8473A>C (p.Thr2825Pro) c.8398A>C (p.Thr2800Pro) c.8098A>C (p.Thr2700Pro) c.5362A>C (p.Thr1788Pro) c.4255A>C (p.Thr1419Pro) c.8281A>C (p.Thr2761Pro) c.4033A>C (p.Thr1345Pro) c.7261A>C (p.Thr2421Pro) | |
| 8 | g.99818490A>G | CA371773709 | VPS13B | c.8476A>G (p.Thr2826Ala) n.8546A>G c.*4158A>G (n.*4158A>G) c.8401A>G (p.Thr2801Ala) c.8473A>G (p.Thr2825Ala) c.8398A>G (p.Thr2800Ala) c.8098A>G (p.Thr2700Ala) c.5362A>G (p.Thr1788Ala) c.4255A>G (p.Thr1419Ala) c.8281A>G (p.Thr2761Ala) c.4033A>G (p.Thr1345Ala) c.7261A>G (p.Thr2421Ala) | |
| 8 | g.99818490A>T | CA371773710 | VPS13B | c.8476A>T (p.Thr2826Ser) n.8546A>T c.*4158A>T (n.*4158A>T) c.8401A>T (p.Thr2801Ser) c.8473A>T (p.Thr2825Ser) c.8398A>T (p.Thr2800Ser) c.8098A>T (p.Thr2700Ser) c.5362A>T (p.Thr1788Ser) c.4255A>T (p.Thr1419Ser) c.8281A>T (p.Thr2761Ser) c.4033A>T (p.Thr1345Ser) c.7261A>T (p.Thr2421Ser) | |
| 8 | g.99818491C>A | CA371773716 | VPS13B | c.8477C>A (p.Thr2826Lys) n.8547C>A c.*4159C>A (n.*4159C>A) c.8402C>A (p.Thr2801Lys) c.8474C>A (p.Thr2825Lys) c.8399C>A (p.Thr2800Lys) c.8099C>A (p.Thr2700Lys) c.5363C>A (p.Thr1788Lys) c.4256C>A (p.Thr1419Lys) c.8282C>A (p.Thr2761Lys) c.4034C>A (p.Thr1345Lys) c.7262C>A (p.Thr2421Lys) | |
| 8 | g.99818491C>G | CA371773713 | VPS13B | c.8477C>G (p.Thr2826Arg) n.8547C>G c.*4159C>G (n.*4159C>G) c.8402C>G (p.Thr2801Arg) c.8474C>G (p.Thr2825Arg) c.8399C>G (p.Thr2800Arg) c.8099C>G (p.Thr2700Arg) c.5363C>G (p.Thr1788Arg) c.4256C>G (p.Thr1419Arg) c.8282C>G (p.Thr2761Arg) c.4034C>G (p.Thr1345Arg) c.7262C>G (p.Thr2421Arg) | dbSNP |
| 8 | g.99818491C>T | CA371773715 | VPS13B | c.8477C>T (p.Thr2826Ile) n.8547C>T c.*4159C>T (n.*4159C>T) c.8402C>T (p.Thr2801Ile) c.8474C>T (p.Thr2825Ile) c.8399C>T (p.Thr2800Ile) c.8099C>T (p.Thr2700Ile) c.5363C>T (p.Thr1788Ile) c.4256C>T (p.Thr1419Ile) c.8282C>T (p.Thr2761Ile) c.4034C>T (p.Thr1345Ile) c.7262C>T (p.Thr2421Ile) | |
| 8 | g.99818492A>C | CA462457445 | VPS13B | c.8478A>C (p.Thr2826=) n.8548A>C c.*4160A>C (n.*4160A>C) c.8403A>C (p.Thr2801=) c.8475A>C (p.Thr2825=) c.8400A>C (p.Thr2800=) c.8100A>C (p.Thr2700=) c.5364A>C (p.Thr1788=) c.4257A>C (p.Thr1419=) c.8283A>C (p.Thr2761=) c.4035A>C (p.Thr1345=) c.7263A>C (p.Thr2421=) | |
| 8 | g.99818492A>G | CA462457448 | VPS13B | c.8478A>G (p.Thr2826=) n.8548A>G c.*4160A>G (n.*4160A>G) c.8403A>G (p.Thr2801=) c.8475A>G (p.Thr2825=) c.8400A>G (p.Thr2800=) c.8100A>G (p.Thr2700=) c.5364A>G (p.Thr1788=) c.4257A>G (p.Thr1419=) c.8283A>G (p.Thr2761=) c.4035A>G (p.Thr1345=) c.7263A>G (p.Thr2421=) | |
| 8 | g.99818492A>T | CA462457446 | VPS13B | c.8478A>T (p.Thr2826=) n.8548A>T c.*4160A>T (n.*4160A>T) c.8403A>T (p.Thr2801=) c.8475A>T (p.Thr2825=) c.8400A>T (p.Thr2800=) c.8100A>T (p.Thr2700=) c.5364A>T (p.Thr1788=) c.4257A>T (p.Thr1419=) c.8283A>T (p.Thr2761=) c.4035A>T (p.Thr1345=) c.7263A>T (p.Thr2421=) | |
| 8 | g.99818493G>A | CA4824445 | VPS13B | c.8479G>A (p.Val2827Ile) n.8549G>A c.*4161G>A (n.*4161G>A) c.8404G>A (p.Val2802Ile) c.8476G>A (p.Val2826Ile) c.8401G>A (p.Val2801Ile) c.8101G>A (p.Val2701Ile) c.5365G>A (p.Val1789Ile) c.4258G>A (p.Val1420Ile) c.8284G>A (p.Val2762Ile) c.4036G>A (p.Val1346Ile) c.7264G>A (p.Val2422Ile) | dbSNP ExAC gnomAD v4 |
| 8 | g.99818493G>C | CA371773720 | VPS13B | c.8479G>C (p.Val2827Leu) n.8549G>C c.*4161G>C (n.*4161G>C) c.8404G>C (p.Val2802Leu) c.8476G>C (p.Val2826Leu) c.8401G>C (p.Val2801Leu) c.8101G>C (p.Val2701Leu) c.5365G>C (p.Val1789Leu) c.4258G>C (p.Val1420Leu) c.8284G>C (p.Val2762Leu) c.4036G>C (p.Val1346Leu) c.7264G>C (p.Val2422Leu) | |
| 8 | g.99818493G>T | CA371773722 | VPS13B | c.8479G>T (p.Val2827Phe) n.8549G>T c.*4161G>T (n.*4161G>T) c.8404G>T (p.Val2802Phe) c.8476G>T (p.Val2826Phe) c.8401G>T (p.Val2801Phe) c.8101G>T (p.Val2701Phe) c.5365G>T (p.Val1789Phe) c.4258G>T (p.Val1420Phe) c.8284G>T (p.Val2762Phe) c.4036G>T (p.Val1346Phe) c.7264G>T (p.Val2422Phe) | |
| 8 | g.99818494T>A | CA371773724 | VPS13B | c.8480T>A (p.Val2827Asp) n.8550T>A c.*4162T>A (n.*4162T>A) c.8405T>A (p.Val2802Asp) c.8477T>A (p.Val2826Asp) c.8402T>A (p.Val2801Asp) c.8102T>A (p.Val2701Asp) c.5366T>A (p.Val1789Asp) c.4259T>A (p.Val1420Asp) c.8285T>A (p.Val2762Asp) c.4037T>A (p.Val1346Asp) c.7265T>A (p.Val2422Asp) | |
| 8 | g.99818494T>C | CA371773725 | VPS13B | c.8480T>C (p.Val2827Ala) n.8550T>C c.*4162T>C (n.*4162T>C) c.8405T>C (p.Val2802Ala) c.8477T>C (p.Val2826Ala) c.8402T>C (p.Val2801Ala) c.8102T>C (p.Val2701Ala) c.5366T>C (p.Val1789Ala) c.4259T>C (p.Val1420Ala) c.8285T>C (p.Val2762Ala) c.4037T>C (p.Val1346Ala) c.7265T>C (p.Val2422Ala) | ClinVar dbSNP |
| 8 | g.99818494T>G | CA371773733 | VPS13B | c.8480T>G (p.Val2827Gly) n.8550T>G c.*4162T>G (n.*4162T>G) c.8405T>G (p.Val2802Gly) c.8477T>G (p.Val2826Gly) c.8402T>G (p.Val2801Gly) c.8102T>G (p.Val2701Gly) c.5366T>G (p.Val1789Gly) c.4259T>G (p.Val1420Gly) c.8285T>G (p.Val2762Gly) c.4037T>G (p.Val1346Gly) c.7265T>G (p.Val2422Gly) | |
| 8 | g.99818495T>A | CA462457457 | VPS13B | c.8481T>A (p.Val2827=) n.8551T>A c.*4163T>A (n.*4163T>A) c.8406T>A (p.Val2802=) c.8478T>A (p.Val2826=) c.8403T>A (p.Val2801=) c.8103T>A (p.Val2701=) c.5367T>A (p.Val1789=) c.4260T>A (p.Val1420=) c.8286T>A (p.Val2762=) c.4038T>A (p.Val1346=) c.7266T>A (p.Val2422=) | |
| 8 | g.99818495T>C | CA462457455 | VPS13B | c.8481T>C (p.Val2827=) n.8551T>C c.*4163T>C (n.*4163T>C) c.8406T>C (p.Val2802=) c.8478T>C (p.Val2826=) c.8403T>C (p.Val2801=) c.8103T>C (p.Val2701=) c.5367T>C (p.Val1789=) c.4260T>C (p.Val1420=) c.8286T>C (p.Val2762=) c.4038T>C (p.Val1346=) c.7266T>C (p.Val2422=) | |
| 8 | g.99818495T>G | CA462457454 | VPS13B | c.8481T>G (p.Val2827=) n.8551T>G c.*4163T>G (n.*4163T>G) c.8406T>G (p.Val2802=) c.8478T>G (p.Val2826=) c.8403T>G (p.Val2801=) c.8103T>G (p.Val2701=) c.5367T>G (p.Val1789=) c.4260T>G (p.Val1420=) c.8286T>G (p.Val2762=) c.4038T>G (p.Val1346=) c.7266T>G (p.Val2422=) | |
| 8 | g.99818496T>A | CA371773736 | VPS13B | c.8482T>A (p.Leu2828Met) n.8552T>A c.*4164T>A (n.*4164T>A) c.8407T>A (p.Leu2803Met) c.8479T>A (p.Leu2827Met) c.8404T>A (p.Leu2802Met) c.8104T>A (p.Leu2702Met) c.5368T>A (p.Leu1790Met) c.4261T>A (p.Leu1421Met) c.8287T>A (p.Leu2763Met) c.4039T>A (p.Leu1347Met) c.7267T>A (p.Leu2423Met) | |
| 8 | g.99818496T>C | CA462457460 | VPS13B | c.8482T>C (p.Leu2828=) n.8552T>C c.*4164T>C (n.*4164T>C) c.8407T>C (p.Leu2803=) c.8479T>C (p.Leu2827=) c.8404T>C (p.Leu2802=) c.8104T>C (p.Leu2702=) c.5368T>C (p.Leu1790=) c.4261T>C (p.Leu1421=) c.8287T>C (p.Leu2763=) c.4039T>C (p.Leu1347=) c.7267T>C (p.Leu2423=) | |
| 8 | g.99818496T>G | CA371773740 | VPS13B | c.8482T>G (p.Leu2828Val) n.8552T>G c.*4164T>G (n.*4164T>G) c.8407T>G (p.Leu2803Val) c.8479T>G (p.Leu2827Val) c.8404T>G (p.Leu2802Val) c.8104T>G (p.Leu2702Val) c.5368T>G (p.Leu1790Val) c.4261T>G (p.Leu1421Val) c.8287T>G (p.Leu2763Val) c.4039T>G (p.Leu1347Val) c.7267T>G (p.Leu2423Val) | |
| 8 | g.99818497T>A | CA371773743 | VPS13B | c.8483T>A (p.Leu2828Ter) n.8553T>A c.*4165T>A (n.*4165T>A) c.8408T>A (p.Leu2803Ter) c.8480T>A (p.Leu2827Ter) c.8405T>A (p.Leu2802Ter) c.8105T>A (p.Leu2702Ter) c.5369T>A (p.Leu1790Ter) c.4262T>A (p.Leu1421Ter) c.8288T>A (p.Leu2763Ter) c.4040T>A (p.Leu1347Ter) c.7268T>A (p.Leu2423Ter) | |
| 8 | g.99818497T>C | CA371773744 | VPS13B | c.8483T>C (p.Leu2828Ser) n.8553T>C c.*4165T>C (n.*4165T>C) c.8408T>C (p.Leu2803Ser) c.8480T>C (p.Leu2827Ser) c.8405T>C (p.Leu2802Ser) c.8105T>C (p.Leu2702Ser) c.5369T>C (p.Leu1790Ser) c.4262T>C (p.Leu1421Ser) c.8288T>C (p.Leu2763Ser) c.4040T>C (p.Leu1347Ser) c.7268T>C (p.Leu2423Ser) | |
| 8 | g.99818497T>G | CA371773746 | VPS13B | c.8483T>G (p.Leu2828Trp) n.8553T>G c.*4165T>G (n.*4165T>G) c.8408T>G (p.Leu2803Trp) c.8480T>G (p.Leu2827Trp) c.8405T>G (p.Leu2802Trp) c.8105T>G (p.Leu2702Trp) c.5369T>G (p.Leu1790Trp) c.4262T>G (p.Leu1421Trp) c.8288T>G (p.Leu2763Trp) c.4040T>G (p.Leu1347Trp) c.7268T>G (p.Leu2423Trp) | |
| 8 | g.99818498G>A | CA462457465 | VPS13B | c.8484G>A (p.Leu2828=) n.8554G>A c.*4166G>A (n.*4166G>A) c.8409G>A (p.Leu2803=) c.8481G>A (p.Leu2827=) c.8406G>A (p.Leu2802=) c.8106G>A (p.Leu2702=) c.5370G>A (p.Leu1790=) c.4263G>A (p.Leu1421=) c.8289G>A (p.Leu2763=) c.4041G>A (p.Leu1347=) c.7269G>A (p.Leu2423=) | |
| 8 | g.99818498G>C | CA371773751 | VPS13B | c.8484G>C (p.Leu2828Phe) n.8554G>C c.*4166G>C (n.*4166G>C) c.8409G>C (p.Leu2803Phe) c.8481G>C (p.Leu2827Phe) c.8406G>C (p.Leu2802Phe) c.8106G>C (p.Leu2702Phe) c.5370G>C (p.Leu1790Phe) c.4263G>C (p.Leu1421Phe) c.8289G>C (p.Leu2763Phe) c.4041G>C (p.Leu1347Phe) c.7269G>C (p.Leu2423Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818498G>T | CA371773749 | VPS13B | c.8484G>T (p.Leu2828Phe) n.8554G>T c.*4166G>T (n.*4166G>T) c.8409G>T (p.Leu2803Phe) c.8481G>T (p.Leu2827Phe) c.8406G>T (p.Leu2802Phe) c.8106G>T (p.Leu2702Phe) c.5370G>T (p.Leu1790Phe) c.4263G>T (p.Leu1421Phe) c.8289G>T (p.Leu2763Phe) c.4041G>T (p.Leu1347Phe) c.7269G>T (p.Leu2423Phe) | gnomAD v4 |
| 8 | g.99818499A>C | CA371773753 | VPS13B | c.8485A>C (p.Thr2829Pro) n.8555A>C c.*4167A>C (n.*4167A>C) c.8410A>C (p.Thr2804Pro) c.8482A>C (p.Thr2828Pro) c.8407A>C (p.Thr2803Pro) c.8107A>C (p.Thr2703Pro) c.5371A>C (p.Thr1791Pro) c.4264A>C (p.Thr1422Pro) c.8290A>C (p.Thr2764Pro) c.4042A>C (p.Thr1348Pro) c.7270A>C (p.Thr2424Pro) | |
| 8 | g.99818499A>G | CA371773755 | VPS13B | c.8485A>G (p.Thr2829Ala) n.8555A>G c.*4167A>G (n.*4167A>G) c.8410A>G (p.Thr2804Ala) c.8482A>G (p.Thr2828Ala) c.8407A>G (p.Thr2803Ala) c.8107A>G (p.Thr2703Ala) c.5371A>G (p.Thr1791Ala) c.4264A>G (p.Thr1422Ala) c.8290A>G (p.Thr2764Ala) c.4042A>G (p.Thr1348Ala) c.7270A>G (p.Thr2424Ala) | |
| 8 | g.99818499A>T | CA371773756 | VPS13B | c.8485A>T (p.Thr2829Ser) n.8555A>T c.*4167A>T (n.*4167A>T) c.8410A>T (p.Thr2804Ser) c.8482A>T (p.Thr2828Ser) c.8407A>T (p.Thr2803Ser) c.8107A>T (p.Thr2703Ser) c.5371A>T (p.Thr1791Ser) c.4264A>T (p.Thr1422Ser) c.8290A>T (p.Thr2764Ser) c.4042A>T (p.Thr1348Ser) c.7270A>T (p.Thr2424Ser) | |
| 8 | g.99818500C>A | CA371773759 | VPS13B | c.8486C>A (p.Thr2829Asn) n.8556C>A c.*4168C>A (n.*4168C>A) c.8411C>A (p.Thr2804Asn) c.8483C>A (p.Thr2828Asn) c.8408C>A (p.Thr2803Asn) c.8108C>A (p.Thr2703Asn) c.5372C>A (p.Thr1791Asn) c.4265C>A (p.Thr1422Asn) c.8291C>A (p.Thr2764Asn) c.4043C>A (p.Thr1348Asn) c.7271C>A (p.Thr2424Asn) | |
| 8 | g.99818500C>G | CA371773761 | VPS13B | c.8486C>G (p.Thr2829Ser) n.8556C>G c.*4168C>G (n.*4168C>G) c.8411C>G (p.Thr2804Ser) c.8483C>G (p.Thr2828Ser) c.8408C>G (p.Thr2803Ser) c.8108C>G (p.Thr2703Ser) c.5372C>G (p.Thr1791Ser) c.4265C>G (p.Thr1422Ser) c.8291C>G (p.Thr2764Ser) c.4043C>G (p.Thr1348Ser) c.7271C>G (p.Thr2424Ser) | |
| 8 | g.99818500C>T | CA371773762 | VPS13B | c.8486C>T (p.Thr2829Ile) n.8556C>T c.*4168C>T (n.*4168C>T) c.8411C>T (p.Thr2804Ile) c.8483C>T (p.Thr2828Ile) c.8408C>T (p.Thr2803Ile) c.8108C>T (p.Thr2703Ile) c.5372C>T (p.Thr1791Ile) c.4265C>T (p.Thr1422Ile) c.8291C>T (p.Thr2764Ile) c.4043C>T (p.Thr1348Ile) c.7271C>T (p.Thr2424Ile) | |
| 8 | g.99818501T>A | CA462457480 | VPS13B | c.8487T>A (p.Thr2829=) n.8557T>A c.*4169T>A (n.*4169T>A) c.8412T>A (p.Thr2804=) c.8484T>A (p.Thr2828=) c.8409T>A (p.Thr2803=) c.8109T>A (p.Thr2703=) c.5373T>A (p.Thr1791=) c.4266T>A (p.Thr1422=) c.8292T>A (p.Thr2764=) c.4044T>A (p.Thr1348=) c.7272T>A (p.Thr2424=) | |
| 8 | g.99818501T>C | CA462457481 | VPS13B | c.8487T>C (p.Thr2829=) n.8557T>C c.*4169T>C (n.*4169T>C) c.8412T>C (p.Thr2804=) c.8484T>C (p.Thr2828=) c.8409T>C (p.Thr2803=) c.8109T>C (p.Thr2703=) c.5373T>C (p.Thr1791=) c.4266T>C (p.Thr1422=) c.8292T>C (p.Thr2764=) c.4044T>C (p.Thr1348=) c.7272T>C (p.Thr2424=) | |
| 8 | g.99818501T>G | CA462457482 | VPS13B | c.8487T>G (p.Thr2829=) n.8557T>G c.*4169T>G (n.*4169T>G) c.8412T>G (p.Thr2804=) c.8484T>G (p.Thr2828=) c.8409T>G (p.Thr2803=) c.8109T>G (p.Thr2703=) c.5373T>G (p.Thr1791=) c.4266T>G (p.Thr1422=) c.8292T>G (p.Thr2764=) c.4044T>G (p.Thr1348=) c.7272T>G (p.Thr2424=) | |
| 8 | g.99818503del | CA645563670 | VPS13B | c.8489del (p.Leu2830Ter) n.8559del c.*4171del (n.*4171del) c.8414del (p.Leu2805Ter) c.8486del (p.Leu2829Ter) c.8411del (p.Leu2804Ter) c.8111del (p.Leu2704Ter) c.5375del (p.Leu1792Ter) c.4268del (p.Leu1423Ter) c.8294del (p.Leu2765Ter) c.4046del (p.Leu1349Ter) c.7274del (p.Leu2425Ter) | COSMIC |
| 8 | g.99818502T>A | CA371773764 | VPS13B | c.8488T>A (p.Leu2830Ile) n.8558T>A c.*4170T>A (n.*4170T>A) c.8413T>A (p.Leu2805Ile) c.8485T>A (p.Leu2829Ile) c.8410T>A (p.Leu2804Ile) c.8110T>A (p.Leu2704Ile) c.5374T>A (p.Leu1792Ile) c.4267T>A (p.Leu1423Ile) c.8293T>A (p.Leu2765Ile) c.4045T>A (p.Leu1349Ile) c.7273T>A (p.Leu2425Ile) | |
| 8 | g.99818502T>C | CA462457484 | VPS13B | c.8488T>C (p.Leu2830=) n.8558T>C c.*4170T>C (n.*4170T>C) c.8413T>C (p.Leu2805=) c.8485T>C (p.Leu2829=) c.8410T>C (p.Leu2804=) c.8110T>C (p.Leu2704=) c.5374T>C (p.Leu1792=) c.4267T>C (p.Leu1423=) c.8293T>C (p.Leu2765=) c.4045T>C (p.Leu1349=) c.7273T>C (p.Leu2425=) | |
| 8 | g.99818502T>G | CA371773766 | VPS13B | c.8488T>G (p.Leu2830Val) n.8558T>G c.*4170T>G (n.*4170T>G) c.8413T>G (p.Leu2805Val) c.8485T>G (p.Leu2829Val) c.8410T>G (p.Leu2804Val) c.8110T>G (p.Leu2704Val) c.5374T>G (p.Leu1792Val) c.4267T>G (p.Leu1423Val) c.8293T>G (p.Leu2765Val) c.4045T>G (p.Leu1349Val) c.7273T>G (p.Leu2425Val) | |
| 8 | g.99818503T>A | CA371773768 | VPS13B | c.8489T>A (p.Leu2830Ter) n.8559T>A c.*4171T>A (n.*4171T>A) c.8414T>A (p.Leu2805Ter) c.8486T>A (p.Leu2829Ter) c.8411T>A (p.Leu2804Ter) c.8111T>A (p.Leu2704Ter) c.5375T>A (p.Leu1792Ter) c.4268T>A (p.Leu1423Ter) c.8294T>A (p.Leu2765Ter) c.4046T>A (p.Leu1349Ter) c.7274T>A (p.Leu2425Ter) | |
| 8 | g.99818503T>C | CA371773769 | VPS13B | c.8489T>C (p.Leu2830Ser) n.8559T>C c.*4171T>C (n.*4171T>C) c.8414T>C (p.Leu2805Ser) c.8486T>C (p.Leu2829Ser) c.8411T>C (p.Leu2804Ser) c.8111T>C (p.Leu2704Ser) c.5375T>C (p.Leu1792Ser) c.4268T>C (p.Leu1423Ser) c.8294T>C (p.Leu2765Ser) c.4046T>C (p.Leu1349Ser) c.7274T>C (p.Leu2425Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818503T>G | CA371773771 | VPS13B | c.8489T>G (p.Leu2830Ter) n.8559T>G c.*4171T>G (n.*4171T>G) c.8414T>G (p.Leu2805Ter) c.8486T>G (p.Leu2829Ter) c.8411T>G (p.Leu2804Ter) c.8111T>G (p.Leu2704Ter) c.5375T>G (p.Leu1792Ter) c.4268T>G (p.Leu1423Ter) c.8294T>G (p.Leu2765Ter) c.4046T>G (p.Leu1349Ter) c.7274T>G (p.Leu2425Ter) | |
| 8 | g.99818504A>C | CA4824446 | VPS13B | c.8490A>C (p.Leu2830Phe) n.8560A>C c.*4172A>C (n.*4172A>C) c.8415A>C (p.Leu2805Phe) c.8487A>C (p.Leu2829Phe) c.8412A>C (p.Leu2804Phe) c.8112A>C (p.Leu2704Phe) c.5376A>C (p.Leu1792Phe) c.4269A>C (p.Leu1423Phe) c.8295A>C (p.Leu2765Phe) c.4047A>C (p.Leu1349Phe) c.7275A>C (p.Leu2425Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818504A>G | CA462457493 | VPS13B | c.8490A>G (p.Leu2830=) n.8560A>G c.*4172A>G (n.*4172A>G) c.8415A>G (p.Leu2805=) c.8487A>G (p.Leu2829=) c.8412A>G (p.Leu2804=) c.8112A>G (p.Leu2704=) c.5376A>G (p.Leu1792=) c.4269A>G (p.Leu1423=) c.8295A>G (p.Leu2765=) c.4047A>G (p.Leu1349=) c.7275A>G (p.Leu2425=) | |
| 8 | g.99818504A>T | CA371773775 | VPS13B | c.8490A>T (p.Leu2830Phe) n.8560A>T c.*4172A>T (n.*4172A>T) c.8415A>T (p.Leu2805Phe) c.8487A>T (p.Leu2829Phe) c.8412A>T (p.Leu2804Phe) c.8112A>T (p.Leu2704Phe) c.5376A>T (p.Leu1792Phe) c.4269A>T (p.Leu1423Phe) c.8295A>T (p.Leu2765Phe) c.4047A>T (p.Leu1349Phe) c.7275A>T (p.Leu2425Phe) | |
| 8 | g.99818505G>A | CA371773781 | VPS13B | c.8491G>A (p.Glu2831Lys) n.8561G>A c.*4173G>A (n.*4173G>A) c.8416G>A (p.Glu2806Lys) c.8488G>A (p.Glu2830Lys) c.8413G>A (p.Glu2805Lys) c.8113G>A (p.Glu2705Lys) c.5377G>A (p.Glu1793Lys) c.4270G>A (p.Glu1424Lys) c.8296G>A (p.Glu2766Lys) c.4048G>A (p.Glu1350Lys) c.7276G>A (p.Glu2426Lys) | |
| 8 | g.99818505G>C | CA371773777 | VPS13B | c.8491G>C (p.Glu2831Gln) n.8561G>C c.*4173G>C (n.*4173G>C) c.8416G>C (p.Glu2806Gln) c.8488G>C (p.Glu2830Gln) c.8413G>C (p.Glu2805Gln) c.8113G>C (p.Glu2705Gln) c.5377G>C (p.Glu1793Gln) c.4270G>C (p.Glu1424Gln) c.8296G>C (p.Glu2766Gln) c.4048G>C (p.Glu1350Gln) c.7276G>C (p.Glu2426Gln) | gnomAD v4 |
| 8 | g.99818505G>T | CA371773779 | VPS13B | c.8491G>T (p.Glu2831Ter) n.8561G>T c.*4173G>T (n.*4173G>T) c.8416G>T (p.Glu2806Ter) c.8488G>T (p.Glu2830Ter) c.8413G>T (p.Glu2805Ter) c.8113G>T (p.Glu2705Ter) c.5377G>T (p.Glu1793Ter) c.4270G>T (p.Glu1424Ter) c.8296G>T (p.Glu2766Ter) c.4048G>T (p.Glu1350Ter) c.7276G>T (p.Glu2426Ter) | dbSNP |
| 8 | g.99818506A>C | CA371773783 | VPS13B | c.8492A>C (p.Glu2831Ala) n.8562A>C c.*4174A>C (n.*4174A>C) c.8417A>C (p.Glu2806Ala) c.8489A>C (p.Glu2830Ala) c.8414A>C (p.Glu2805Ala) c.8114A>C (p.Glu2705Ala) c.5378A>C (p.Glu1793Ala) c.4271A>C (p.Glu1424Ala) c.8297A>C (p.Glu2766Ala) c.4049A>C (p.Glu1350Ala) c.7277A>C (p.Glu2426Ala) | |
| 8 | g.99818506A>G | CA371773786 | VPS13B | c.8492A>G (p.Glu2831Gly) n.8562A>G c.*4174A>G (n.*4174A>G) c.8417A>G (p.Glu2806Gly) c.8489A>G (p.Glu2830Gly) c.8414A>G (p.Glu2805Gly) c.8114A>G (p.Glu2705Gly) c.5378A>G (p.Glu1793Gly) c.4271A>G (p.Glu1424Gly) c.8297A>G (p.Glu2766Gly) c.4049A>G (p.Glu1350Gly) c.7277A>G (p.Glu2426Gly) | |
| 8 | g.99818506A>T | CA371773788 | VPS13B | c.8492A>T (p.Glu2831Val) n.8562A>T c.*4174A>T (n.*4174A>T) c.8417A>T (p.Glu2806Val) c.8489A>T (p.Glu2830Val) c.8414A>T (p.Glu2805Val) c.8114A>T (p.Glu2705Val) c.5378A>T (p.Glu1793Val) c.4271A>T (p.Glu1424Val) c.8297A>T (p.Glu2766Val) c.4049A>T (p.Glu1350Val) c.7277A>T (p.Glu2426Val) | |
| 8 | g.99818509_99818513del | CA2497231218 | VPS13B | c.8495_8499del (p.Pro2832LeufsTer?) n.8565_8569del c.*4177_*4181del (n.*4177_*4181del) c.8420_8424del (p.Pro2807LeufsTer?) c.8492_8496del (p.Pro2831LeufsTer?) c.8417_8421del (p.Pro2806LeufsTer?) c.8117_8121del (p.Pro2706LeufsTer?) c.5381_5385del (p.Pro1794LeufsTer?) c.4274_4278del (p.Pro1425LeufsTer?) c.8300_8304del (p.Pro2767LeufsTer?) c.4052_4056del (p.Pro1351LeufsTer?) c.7280_7284del (p.Pro2427LeufsTer?) | dbSNP |
| 8 | g.99818507A>C | CA371773793 | VPS13B | c.8493A>C (p.Glu2831Asp) n.8563A>C c.*4175A>C (n.*4175A>C) c.8418A>C (p.Glu2806Asp) c.8490A>C (p.Glu2830Asp) c.8415A>C (p.Glu2805Asp) c.8115A>C (p.Glu2705Asp) c.5379A>C (p.Glu1793Asp) c.4272A>C (p.Glu1424Asp) c.8298A>C (p.Glu2766Asp) c.4050A>C (p.Glu1350Asp) c.7278A>C (p.Glu2426Asp) | |
| 8 | g.99818507A>G | CA462457499 | VPS13B | c.8493A>G (p.Glu2831=) n.8563A>G c.*4175A>G (n.*4175A>G) c.8418A>G (p.Glu2806=) c.8490A>G (p.Glu2830=) c.8415A>G (p.Glu2805=) c.8115A>G (p.Glu2705=) c.5379A>G (p.Glu1793=) c.4272A>G (p.Glu1424=) c.8298A>G (p.Glu2766=) c.4050A>G (p.Glu1350=) c.7278A>G (p.Glu2426=) | |
| 8 | g.99818507A>T | CA371773794 | VPS13B | c.8493A>T (p.Glu2831Asp) n.8563A>T c.*4175A>T (n.*4175A>T) c.8418A>T (p.Glu2806Asp) c.8490A>T (p.Glu2830Asp) c.8415A>T (p.Glu2805Asp) c.8115A>T (p.Glu2705Asp) c.5379A>T (p.Glu1793Asp) c.4272A>T (p.Glu1424Asp) c.8298A>T (p.Glu2766Asp) c.4050A>T (p.Glu1350Asp) c.7278A>T (p.Glu2426Asp) | |
| 8 | g.99818508C>A | CA371773798 | VPS13B | c.8494C>A (p.Pro2832Thr) n.8564C>A c.*4176C>A (n.*4176C>A) c.8419C>A (p.Pro2807Thr) c.8491C>A (p.Pro2831Thr) c.8416C>A (p.Pro2806Thr) c.8116C>A (p.Pro2706Thr) c.5380C>A (p.Pro1794Thr) c.4273C>A (p.Pro1425Thr) c.8299C>A (p.Pro2767Thr) c.4051C>A (p.Pro1351Thr) c.7279C>A (p.Pro2427Thr) | |
| 8 | g.99818508C>G | CA371773801 | VPS13B | c.8494C>G (p.Pro2832Ala) n.8564C>G c.*4176C>G (n.*4176C>G) c.8419C>G (p.Pro2807Ala) c.8491C>G (p.Pro2831Ala) c.8416C>G (p.Pro2806Ala) c.8116C>G (p.Pro2706Ala) c.5380C>G (p.Pro1794Ala) c.4273C>G (p.Pro1425Ala) c.8299C>G (p.Pro2767Ala) c.4051C>G (p.Pro1351Ala) c.7279C>G (p.Pro2427Ala) | |
| 8 | g.99818508C>T | CA182327966 | VPS13B | c.8494C>T (p.Pro2832Ser) n.8564C>T c.*4176C>T (n.*4176C>T) c.8419C>T (p.Pro2807Ser) c.8491C>T (p.Pro2831Ser) c.8416C>T (p.Pro2806Ser) c.8116C>T (p.Pro2706Ser) c.5380C>T (p.Pro1794Ser) c.4273C>T (p.Pro1425Ser) c.8299C>T (p.Pro2767Ser) c.4051C>T (p.Pro1351Ser) c.7279C>T (p.Pro2427Ser) | dbSNP |
| 8 | g.99818510del | CA915948692 | VPS13B | c.8496del (p.Asn2833ThrfsTer8) n.8566del c.*4178del (n.*4178del) c.8421del (p.Asn2808ThrfsTer8) c.8493del (p.Asn2832ThrfsTer8) c.8418del (p.Asn2807ThrfsTer8) c.8118del (p.Asn2707ThrfsTer8) c.5382del (p.Asn1795ThrfsTer8) c.4275del (p.Asn1426ThrfsTer8) c.8301del (p.Asn2768ThrfsTer8) c.4053del (p.Asn1352ThrfsTer8) c.7281del (p.Asn2428ThrfsTer8) | ClinVar dbSNP |
| 8 | g.99818509C>A | CA371773805 | VPS13B | c.8495C>A (p.Pro2832His) n.8565C>A c.*4177C>A (n.*4177C>A) c.8420C>A (p.Pro2807His) c.8492C>A (p.Pro2831His) c.8417C>A (p.Pro2806His) c.8117C>A (p.Pro2706His) c.5381C>A (p.Pro1794His) c.4274C>A (p.Pro1425His) c.8300C>A (p.Pro2767His) c.4052C>A (p.Pro1351His) c.7280C>A (p.Pro2427His) | |
| 8 | g.99818509C>G | CA371773807 | VPS13B | c.8495C>G (p.Pro2832Arg) n.8565C>G c.*4177C>G (n.*4177C>G) c.8420C>G (p.Pro2807Arg) c.8492C>G (p.Pro2831Arg) c.8417C>G (p.Pro2806Arg) c.8117C>G (p.Pro2706Arg) c.5381C>G (p.Pro1794Arg) c.4274C>G (p.Pro1425Arg) c.8300C>G (p.Pro2767Arg) c.4052C>G (p.Pro1351Arg) c.7280C>G (p.Pro2427Arg) | |
| 8 | g.99818509C>T | CA371773809 | VPS13B | c.8495C>T (p.Pro2832Leu) n.8565C>T c.*4177C>T (n.*4177C>T) c.8420C>T (p.Pro2807Leu) c.8492C>T (p.Pro2831Leu) c.8417C>T (p.Pro2806Leu) c.8117C>T (p.Pro2706Leu) c.5381C>T (p.Pro1794Leu) c.4274C>T (p.Pro1425Leu) c.8300C>T (p.Pro2767Leu) c.4052C>T (p.Pro1351Leu) c.7280C>T (p.Pro2427Leu) | gnomAD v4 COSMIC |
| 8 | g.99818509_99818515delinsGA | CA2580079199 | VPS13B | c.8495_8501delinsGA (p.Pro2832ArgfsTer?) n.8565_8571delinsGA c.*4177_*4183delinsGA (n.*4177_*4183delinsGA) c.8420_8426delinsGA (p.Pro2807ArgfsTer?) c.8492_8498delinsGA (p.Pro2831ArgfsTer?) c.8417_8423delinsGA (p.Pro2806ArgfsTer?) c.8117_8123delinsGA (p.Pro2706ArgfsTer?) c.5381_5387delinsGA (p.Pro1794ArgfsTer?) c.4274_4280delinsGA (p.Pro1425ArgfsTer?) c.8300_8306delinsGA (p.Pro2767ArgfsTer?) c.4052_4058delinsGA (p.Pro1351ArgfsTer?) c.7280_7286delinsGA (p.Pro2427ArgfsTer?) | ClinVar |
| 8 | g.99818510C>A | CA462457501 | VPS13B | c.8496C>A (p.Pro2832=) n.8566C>A c.*4178C>A (n.*4178C>A) c.8421C>A (p.Pro2807=) c.8493C>A (p.Pro2831=) c.8418C>A (p.Pro2806=) c.8118C>A (p.Pro2706=) c.5382C>A (p.Pro1794=) c.4275C>A (p.Pro1425=) c.8301C>A (p.Pro2767=) c.4053C>A (p.Pro1351=) c.7281C>A (p.Pro2427=) | |
| 8 | g.99818510C>G | CA462457502 | VPS13B | c.8496C>G (p.Pro2832=) n.8566C>G c.*4178C>G (n.*4178C>G) c.8421C>G (p.Pro2807=) c.8493C>G (p.Pro2831=) c.8418C>G (p.Pro2806=) c.8118C>G (p.Pro2706=) c.5382C>G (p.Pro1794=) c.4275C>G (p.Pro1425=) c.8301C>G (p.Pro2767=) c.4053C>G (p.Pro1351=) c.7281C>G (p.Pro2427=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818510C>T | CA462457503 | VPS13B | c.8496C>T (p.Pro2832=) n.8566C>T c.*4178C>T (n.*4178C>T) c.8421C>T (p.Pro2807=) c.8493C>T (p.Pro2831=) c.8418C>T (p.Pro2806=) c.8118C>T (p.Pro2706=) c.5382C>T (p.Pro1794=) c.4275C>T (p.Pro1425=) c.8301C>T (p.Pro2767=) c.4053C>T (p.Pro1351=) c.7281C>T (p.Pro2427=) | |
| 8 | g.99818511A>C | CA371773816 | VPS13B | c.8497A>C (p.Asn2833His) n.8567A>C c.*4179A>C (n.*4179A>C) c.8422A>C (p.Asn2808His) c.8494A>C (p.Asn2832His) c.8419A>C (p.Asn2807His) c.8119A>C (p.Asn2707His) c.5383A>C (p.Asn1795His) c.4276A>C (p.Asn1426His) c.8302A>C (p.Asn2768His) c.4054A>C (p.Asn1352His) c.7282A>C (p.Asn2428His) | |
| 8 | g.99818511A>G | CA371773813 | VPS13B | c.8497A>G (p.Asn2833Asp) n.8567A>G c.*4179A>G (n.*4179A>G) c.8422A>G (p.Asn2808Asp) c.8494A>G (p.Asn2832Asp) c.8419A>G (p.Asn2807Asp) c.8119A>G (p.Asn2707Asp) c.5383A>G (p.Asn1795Asp) c.4276A>G (p.Asn1426Asp) c.8302A>G (p.Asn2768Asp) c.4054A>G (p.Asn1352Asp) c.7282A>G (p.Asn2428Asp) | |
| 8 | g.99818511A>T | CA371773811 | VPS13B | c.8497A>T (p.Asn2833Tyr) n.8567A>T c.*4179A>T (n.*4179A>T) c.8422A>T (p.Asn2808Tyr) c.8494A>T (p.Asn2832Tyr) c.8419A>T (p.Asn2807Tyr) c.8119A>T (p.Asn2707Tyr) c.5383A>T (p.Asn1795Tyr) c.4276A>T (p.Asn1426Tyr) c.8302A>T (p.Asn2768Tyr) c.4054A>T (p.Asn1352Tyr) c.7282A>T (p.Asn2428Tyr) | dbSNP gnomAD v2 |
| 8 | g.99818512A>C | CA371773819 | VPS13B | c.8498A>C (p.Asn2833Thr) n.8568A>C c.*4180A>C (n.*4180A>C) c.8423A>C (p.Asn2808Thr) c.8495A>C (p.Asn2832Thr) c.8420A>C (p.Asn2807Thr) c.8120A>C (p.Asn2707Thr) c.5384A>C (p.Asn1795Thr) c.4277A>C (p.Asn1426Thr) c.8303A>C (p.Asn2768Thr) c.4055A>C (p.Asn1352Thr) c.7283A>C (p.Asn2428Thr) | |
| 8 | g.99818512A>G | CA4824447 | VPS13B | c.8498A>G (p.Asn2833Ser) n.8568A>G c.*4180A>G (n.*4180A>G) c.8423A>G (p.Asn2808Ser) c.8495A>G (p.Asn2832Ser) c.8420A>G (p.Asn2807Ser) c.8120A>G (p.Asn2707Ser) c.5384A>G (p.Asn1795Ser) c.4277A>G (p.Asn1426Ser) c.8303A>G (p.Asn2768Ser) c.4055A>G (p.Asn1352Ser) c.7283A>G (p.Asn2428Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818512A>T | CA371773821 | VPS13B | c.8498A>T (p.Asn2833Ile) n.8568A>T c.*4180A>T (n.*4180A>T) c.8423A>T (p.Asn2808Ile) c.8495A>T (p.Asn2832Ile) c.8420A>T (p.Asn2807Ile) c.8120A>T (p.Asn2707Ile) c.5384A>T (p.Asn1795Ile) c.4277A>T (p.Asn1426Ile) c.8303A>T (p.Asn2768Ile) c.4055A>T (p.Asn1352Ile) c.7283A>T (p.Asn2428Ile) | ClinVar dbSNP |
| 8 | g.99818513C>A | CA371773823 | VPS13B | c.8499C>A (p.Asn2833Lys) n.8569C>A c.*4181C>A (n.*4181C>A) c.8424C>A (p.Asn2808Lys) c.8496C>A (p.Asn2832Lys) c.8421C>A (p.Asn2807Lys) c.8121C>A (p.Asn2707Lys) c.5385C>A (p.Asn1795Lys) c.4278C>A (p.Asn1426Lys) c.8304C>A (p.Asn2768Lys) c.4056C>A (p.Asn1352Lys) c.7284C>A (p.Asn2428Lys) | |
| 8 | g.99818513C>G | CA371773824 | VPS13B | c.8499C>G (p.Asn2833Lys) n.8569C>G c.*4181C>G (n.*4181C>G) c.8424C>G (p.Asn2808Lys) c.8496C>G (p.Asn2832Lys) c.8421C>G (p.Asn2807Lys) c.8121C>G (p.Asn2707Lys) c.5385C>G (p.Asn1795Lys) c.4278C>G (p.Asn1426Lys) c.8304C>G (p.Asn2768Lys) c.4056C>G (p.Asn1352Lys) c.7284C>G (p.Asn2428Lys) | |
| 8 | g.99818513C>T | CA462457506 | VPS13B | c.8499C>T (p.Asn2833=) n.8569C>T c.*4181C>T (n.*4181C>T) c.8424C>T (p.Asn2808=) c.8496C>T (p.Asn2832=) c.8421C>T (p.Asn2807=) c.8121C>T (p.Asn2707=) c.5385C>T (p.Asn1795=) c.4278C>T (p.Asn1426=) c.8304C>T (p.Asn2768=) c.4056C>T (p.Asn1352=) c.7284C>T (p.Asn2428=) | |
| 8 | g.99818513dup | CA2688069429 | VPS13B | c.8499dup (p.Ser2834LeufsTer?) n.8569dup c.*4181dup (n.*4181dup) c.8424dup (p.Ser2809LeufsTer?) c.8496dup (p.Ser2833LeufsTer?) c.8421dup (p.Ser2808LeufsTer?) c.8121dup (p.Ser2708LeufsTer?) c.5385dup (p.Ser1796LeufsTer?) c.4278dup (p.Ser1427LeufsTer?) c.8304dup (p.Ser2769LeufsTer?) c.4056dup (p.Ser1353LeufsTer?) c.7284dup (p.Ser2429LeufsTer?) | gnomAD v4 |
| 8 | g.99818514T>A | CA371773827 | VPS13B | c.8500T>A (p.Ser2834Thr) n.8570T>A c.*4182T>A (n.*4182T>A) c.8425T>A (p.Ser2809Thr) c.8497T>A (p.Ser2833Thr) c.8422T>A (p.Ser2808Thr) c.8122T>A (p.Ser2708Thr) c.5386T>A (p.Ser1796Thr) c.4279T>A (p.Ser1427Thr) c.8305T>A (p.Ser2769Thr) c.4057T>A (p.Ser1353Thr) c.7285T>A (p.Ser2429Thr) | |
| 8 | g.99818514T>C | CA371773829 | VPS13B | c.8500T>C (p.Ser2834Pro) n.8570T>C c.*4182T>C (n.*4182T>C) c.8425T>C (p.Ser2809Pro) c.8497T>C (p.Ser2833Pro) c.8422T>C (p.Ser2808Pro) c.8122T>C (p.Ser2708Pro) c.5386T>C (p.Ser1796Pro) c.4279T>C (p.Ser1427Pro) c.8305T>C (p.Ser2769Pro) c.4057T>C (p.Ser1353Pro) c.7285T>C (p.Ser2429Pro) | |
| 8 | g.99818514T>G | CA371773830 | VPS13B | c.8500T>G (p.Ser2834Ala) n.8570T>G c.*4182T>G (n.*4182T>G) c.8425T>G (p.Ser2809Ala) c.8497T>G (p.Ser2833Ala) c.8422T>G (p.Ser2808Ala) c.8122T>G (p.Ser2708Ala) c.5386T>G (p.Ser1796Ala) c.4279T>G (p.Ser1427Ala) c.8305T>G (p.Ser2769Ala) c.4057T>G (p.Ser1353Ala) c.7285T>G (p.Ser2429Ala) | dbSNP |
| 8 | g.99818515C>A | CA371773833 | VPS13B | c.8501C>A (p.Ser2834Tyr) n.8571C>A c.*4183C>A (n.*4183C>A) c.8426C>A (p.Ser2809Tyr) c.8498C>A (p.Ser2833Tyr) c.8423C>A (p.Ser2808Tyr) c.8123C>A (p.Ser2708Tyr) c.5387C>A (p.Ser1796Tyr) c.4280C>A (p.Ser1427Tyr) c.8306C>A (p.Ser2769Tyr) c.4058C>A (p.Ser1353Tyr) c.7286C>A (p.Ser2429Tyr) | dbSNP |
| 8 | g.99818515C>G | CA371773835 | VPS13B | c.8501C>G (p.Ser2834Cys) n.8571C>G c.*4183C>G (n.*4183C>G) c.8426C>G (p.Ser2809Cys) c.8498C>G (p.Ser2833Cys) c.8423C>G (p.Ser2808Cys) c.8123C>G (p.Ser2708Cys) c.5387C>G (p.Ser1796Cys) c.4280C>G (p.Ser1427Cys) c.8306C>G (p.Ser2769Cys) c.4058C>G (p.Ser1353Cys) c.7286C>G (p.Ser2429Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818515C>T | CA371773837 | VPS13B | c.8501C>T (p.Ser2834Phe) n.8571C>T c.*4183C>T (n.*4183C>T) c.8426C>T (p.Ser2809Phe) c.8498C>T (p.Ser2833Phe) c.8423C>T (p.Ser2808Phe) c.8123C>T (p.Ser2708Phe) c.5387C>T (p.Ser1796Phe) c.4280C>T (p.Ser1427Phe) c.8306C>T (p.Ser2769Phe) c.4058C>T (p.Ser1353Phe) c.7286C>T (p.Ser2429Phe) | |
| 8 | g.99818516T>A | CA462457511 | VPS13B | c.8502T>A (p.Ser2834=) n.8572T>A c.*4184T>A (n.*4184T>A) c.8427T>A (p.Ser2809=) c.8499T>A (p.Ser2833=) c.8424T>A (p.Ser2808=) c.8124T>A (p.Ser2708=) c.5388T>A (p.Ser1796=) c.4281T>A (p.Ser1427=) c.8307T>A (p.Ser2769=) c.4059T>A (p.Ser1353=) c.7287T>A (p.Ser2429=) | |
| 8 | g.99818516T>C | CA462457513 | VPS13B | c.8502T>C (p.Ser2834=) n.8572T>C c.*4184T>C (n.*4184T>C) c.8427T>C (p.Ser2809=) c.8499T>C (p.Ser2833=) c.8424T>C (p.Ser2808=) c.8124T>C (p.Ser2708=) c.5388T>C (p.Ser1796=) c.4281T>C (p.Ser1427=) c.8307T>C (p.Ser2769=) c.4059T>C (p.Ser1353=) c.7287T>C (p.Ser2429=) | |
| 8 | g.99818516T>G | CA462457512 | VPS13B | c.8502T>G (p.Ser2834=) n.8572T>G c.*4184T>G (n.*4184T>G) c.8427T>G (p.Ser2809=) c.8499T>G (p.Ser2833=) c.8424T>G (p.Ser2808=) c.8124T>G (p.Ser2708=) c.5388T>G (p.Ser1796=) c.4281T>G (p.Ser1427=) c.8307T>G (p.Ser2769=) c.4059T>G (p.Ser1353=) c.7287T>G (p.Ser2429=) | |
| 8 | g.99818517C>A | CA371773839 | VPS13B | c.8503C>A (p.Gln2835Lys) n.8573C>A c.*4185C>A (n.*4185C>A) c.8428C>A (p.Gln2810Lys) c.8500C>A (p.Gln2834Lys) c.8425C>A (p.Gln2809Lys) c.8125C>A (p.Gln2709Lys) c.5389C>A (p.Gln1797Lys) c.4282C>A (p.Gln1428Lys) c.8308C>A (p.Gln2770Lys) c.4060C>A (p.Gln1354Lys) c.7288C>A (p.Gln2430Lys) | |
| 8 | g.99818517C>G | CA371773841 | VPS13B | c.8503C>G (p.Gln2835Glu) n.8573C>G c.*4185C>G (n.*4185C>G) c.8428C>G (p.Gln2810Glu) c.8500C>G (p.Gln2834Glu) c.8425C>G (p.Gln2809Glu) c.8125C>G (p.Gln2709Glu) c.5389C>G (p.Gln1797Glu) c.4282C>G (p.Gln1428Glu) c.8308C>G (p.Gln2770Glu) c.4060C>G (p.Gln1354Glu) c.7288C>G (p.Gln2430Glu) | dbSNP |
| 8 | g.99818517C>T | CA371773843 | VPS13B | c.8503C>T (p.Gln2835Ter) n.8573C>T c.*4185C>T (n.*4185C>T) c.8428C>T (p.Gln2810Ter) c.8500C>T (p.Gln2834Ter) c.8425C>T (p.Gln2809Ter) c.8125C>T (p.Gln2709Ter) c.5389C>T (p.Gln1797Ter) c.4282C>T (p.Gln1428Ter) c.8308C>T (p.Gln2770Ter) c.4060C>T (p.Gln1354Ter) c.7288C>T (p.Gln2430Ter) | dbSNP gnomAD v4 |
| 8 | g.99818518A>C | CA4824448 | VPS13B | c.8504A>C (p.Gln2835Pro) n.8574A>C c.*4186A>C (n.*4186A>C) c.8429A>C (p.Gln2810Pro) c.8501A>C (p.Gln2834Pro) c.8426A>C (p.Gln2809Pro) c.8126A>C (p.Gln2709Pro) c.5390A>C (p.Gln1797Pro) c.4283A>C (p.Gln1428Pro) c.8309A>C (p.Gln2770Pro) c.4061A>C (p.Gln1354Pro) c.7289A>C (p.Gln2430Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818518A>G | CA371773848 | VPS13B | c.8504A>G (p.Gln2835Arg) n.8574A>G c.*4186A>G (n.*4186A>G) c.8429A>G (p.Gln2810Arg) c.8501A>G (p.Gln2834Arg) c.8426A>G (p.Gln2809Arg) c.8126A>G (p.Gln2709Arg) c.5390A>G (p.Gln1797Arg) c.4283A>G (p.Gln1428Arg) c.8309A>G (p.Gln2770Arg) c.4061A>G (p.Gln1354Arg) c.7289A>G (p.Gln2430Arg) | |
| 8 | g.99818518A>T | CA371773845 | VPS13B | c.8504A>T (p.Gln2835Leu) n.8574A>T c.*4186A>T (n.*4186A>T) c.8429A>T (p.Gln2810Leu) c.8501A>T (p.Gln2834Leu) c.8426A>T (p.Gln2809Leu) c.8126A>T (p.Gln2709Leu) c.5390A>T (p.Gln1797Leu) c.4283A>T (p.Gln1428Leu) c.8309A>T (p.Gln2770Leu) c.4061A>T (p.Gln1354Leu) c.7289A>T (p.Gln2430Leu) | |
| 8 | g.99818519del | CA2499219487 | VPS13B | c.8505del (p.Val2836CysfsTer5) n.8575del c.*4187del (n.*4187del) c.8430del (p.Val2811CysfsTer5) c.8502del (p.Val2835CysfsTer5) c.8427del (p.Val2810CysfsTer5) c.8127del (p.Val2710CysfsTer5) c.5391del (p.Val1798CysfsTer5) c.4284del (p.Val1429CysfsTer5) c.8310del (p.Val2771CysfsTer5) c.4062del (p.Val1355CysfsTer5) c.7290del (p.Val2431CysfsTer5) | ClinVar dbSNP |
| 8 | g.99818519A>C | CA371773851 | VPS13B | c.8505A>C (p.Gln2835His) n.8575A>C c.*4187A>C (n.*4187A>C) c.8430A>C (p.Gln2810His) c.8502A>C (p.Gln2834His) c.8427A>C (p.Gln2809His) c.8127A>C (p.Gln2709His) c.5391A>C (p.Gln1797His) c.4284A>C (p.Gln1428His) c.8310A>C (p.Gln2770His) c.4062A>C (p.Gln1354His) c.7290A>C (p.Gln2430His) | |
| 8 | g.99818519A>G | CA462457520 | VPS13B | c.8505A>G (p.Gln2835=) n.8575A>G c.*4187A>G (n.*4187A>G) c.8430A>G (p.Gln2810=) c.8502A>G (p.Gln2834=) c.8427A>G (p.Gln2809=) c.8127A>G (p.Gln2709=) c.5391A>G (p.Gln1797=) c.4284A>G (p.Gln1428=) c.8310A>G (p.Gln2770=) c.4062A>G (p.Gln1354=) c.7290A>G (p.Gln2430=) | gnomAD v4 |
| 8 | g.99818519A>T | CA371773853 | VPS13B | c.8505A>T (p.Gln2835His) n.8575A>T c.*4187A>T (n.*4187A>T) c.8430A>T (p.Gln2810His) c.8502A>T (p.Gln2834His) c.8427A>T (p.Gln2809His) c.8127A>T (p.Gln2709His) c.5391A>T (p.Gln1797His) c.4284A>T (p.Gln1428His) c.8310A>T (p.Gln2770His) c.4062A>T (p.Gln1354His) c.7290A>T (p.Gln2430His) | |
| 8 | g.99818520G>A | CA371773854 | VPS13B | c.8506G>A (p.Val2836Met) n.8576G>A c.*4188G>A (n.*4188G>A) c.8431G>A (p.Val2811Met) c.8503G>A (p.Val2835Met) c.8428G>A (p.Val2810Met) c.8128G>A (p.Val2710Met) c.5392G>A (p.Val1798Met) c.4285G>A (p.Val1429Met) c.8311G>A (p.Val2771Met) c.4063G>A (p.Val1355Met) c.7291G>A (p.Val2431Met) | gnomAD v4 |
| 8 | g.99818520G>C | CA371773856 | VPS13B | c.8506G>C (p.Val2836Leu) n.8576G>C c.*4188G>C (n.*4188G>C) c.8431G>C (p.Val2811Leu) c.8503G>C (p.Val2835Leu) c.8428G>C (p.Val2810Leu) c.8128G>C (p.Val2710Leu) c.5392G>C (p.Val1798Leu) c.4285G>C (p.Val1429Leu) c.8311G>C (p.Val2771Leu) c.4063G>C (p.Val1355Leu) c.7291G>C (p.Val2431Leu) | |
| 8 | g.99818520G>T | CA371773858 | VPS13B | c.8506G>T (p.Val2836Leu) n.8576G>T c.*4188G>T (n.*4188G>T) c.8431G>T (p.Val2811Leu) c.8503G>T (p.Val2835Leu) c.8428G>T (p.Val2810Leu) c.8128G>T (p.Val2710Leu) c.5392G>T (p.Val1798Leu) c.4285G>T (p.Val1429Leu) c.8311G>T (p.Val2771Leu) c.4063G>T (p.Val1355Leu) c.7291G>T (p.Val2431Leu) | |
| 8 | g.99818521T>A | CA371773860 | VPS13B | c.8507T>A (p.Val2836Glu) n.8577T>A c.*4189T>A (n.*4189T>A) c.8432T>A (p.Val2811Glu) c.8504T>A (p.Val2835Glu) c.8429T>A (p.Val2810Glu) c.8129T>A (p.Val2710Glu) c.5393T>A (p.Val1798Glu) c.4286T>A (p.Val1429Glu) c.8312T>A (p.Val2771Glu) c.4064T>A (p.Val1355Glu) c.7292T>A (p.Val2431Glu) | |
| 8 | g.99818521T>C | CA371773863 | VPS13B | c.8507T>C (p.Val2836Ala) n.8577T>C c.*4189T>C (n.*4189T>C) c.8432T>C (p.Val2811Ala) c.8504T>C (p.Val2835Ala) c.8429T>C (p.Val2810Ala) c.8129T>C (p.Val2710Ala) c.5393T>C (p.Val1798Ala) c.4286T>C (p.Val1429Ala) c.8312T>C (p.Val2771Ala) c.4064T>C (p.Val1355Ala) c.7292T>C (p.Val2431Ala) | |
| 8 | g.99818521T>G | CA371773865 | VPS13B | c.8507T>G (p.Val2836Gly) n.8577T>G c.*4189T>G (n.*4189T>G) c.8432T>G (p.Val2811Gly) c.8504T>G (p.Val2835Gly) c.8429T>G (p.Val2810Gly) c.8129T>G (p.Val2710Gly) c.5393T>G (p.Val1798Gly) c.4286T>G (p.Val1429Gly) c.8312T>G (p.Val2771Gly) c.4064T>G (p.Val1355Gly) c.7292T>G (p.Val2431Gly) | |
| 8 | g.99818522G>A | CA462457531 | VPS13B | c.8508G>A (p.Val2836=) n.8578G>A c.*4190G>A (n.*4190G>A) c.8433G>A (p.Val2811=) c.8505G>A (p.Val2835=) c.8430G>A (p.Val2810=) c.8130G>A (p.Val2710=) c.5394G>A (p.Val1798=) c.4287G>A (p.Val1429=) c.8313G>A (p.Val2771=) c.4065G>A (p.Val1355=) c.7293G>A (p.Val2431=) | |
| 8 | g.99818522G>C | CA462457533 | VPS13B | c.8508G>C (p.Val2836=) n.8578G>C c.*4190G>C (n.*4190G>C) c.8433G>C (p.Val2811=) c.8505G>C (p.Val2835=) c.8430G>C (p.Val2810=) c.8130G>C (p.Val2710=) c.5394G>C (p.Val1798=) c.4287G>C (p.Val1429=) c.8313G>C (p.Val2771=) c.4065G>C (p.Val1355=) c.7293G>C (p.Val2431=) | |
| 8 | g.99818522G>T | CA462457534 | VPS13B | c.8508G>T (p.Val2836=) n.8578G>T c.*4190G>T (n.*4190G>T) c.8433G>T (p.Val2811=) c.8505G>T (p.Val2835=) c.8430G>T (p.Val2810=) c.8130G>T (p.Val2710=) c.5394G>T (p.Val1798=) c.4287G>T (p.Val1429=) c.8313G>T (p.Val2771=) c.4065G>T (p.Val1355=) c.7293G>T (p.Val2431=) | |
| 8 | g.99818523C>A | CA371773867 | VPS13B | c.8509C>A (p.Gln2837Lys) n.8579C>A c.*4191C>A (n.*4191C>A) c.8434C>A (p.Gln2812Lys) c.8506C>A (p.Gln2836Lys) c.8431C>A (p.Gln2811Lys) c.8131C>A (p.Gln2711Lys) c.5395C>A (p.Gln1799Lys) c.4288C>A (p.Gln1430Lys) c.8314C>A (p.Gln2772Lys) c.4066C>A (p.Gln1356Lys) c.7294C>A (p.Gln2432Lys) | |
| 8 | g.99818523C>G | CA371773869 | VPS13B | c.8509C>G (p.Gln2837Glu) n.8579C>G c.*4191C>G (n.*4191C>G) c.8434C>G (p.Gln2812Glu) c.8506C>G (p.Gln2836Glu) c.8431C>G (p.Gln2811Glu) c.8131C>G (p.Gln2711Glu) c.5395C>G (p.Gln1799Glu) c.4288C>G (p.Gln1430Glu) c.8314C>G (p.Gln2772Glu) c.4066C>G (p.Gln1356Glu) c.7294C>G (p.Gln2432Glu) | |
| 8 | g.99818523C>T | CA371773871 | VPS13B | c.8509C>T (p.Gln2837Ter) n.8579C>T c.*4191C>T (n.*4191C>T) c.8434C>T (p.Gln2812Ter) c.8506C>T (p.Gln2836Ter) c.8431C>T (p.Gln2811Ter) c.8131C>T (p.Gln2711Ter) c.5395C>T (p.Gln1799Ter) c.4288C>T (p.Gln1430Ter) c.8314C>T (p.Gln2772Ter) c.4066C>T (p.Gln1356Ter) c.7294C>T (p.Gln2432Ter) | |
| 8 | g.99818524A>C | CA371773878 | VPS13B | c.8510A>C (p.Gln2837Pro) n.8580A>C c.*4192A>C (n.*4192A>C) c.8435A>C (p.Gln2812Pro) c.8507A>C (p.Gln2836Pro) c.8432A>C (p.Gln2811Pro) c.8132A>C (p.Gln2711Pro) c.5396A>C (p.Gln1799Pro) c.4289A>C (p.Gln1430Pro) c.8315A>C (p.Gln2772Pro) c.4067A>C (p.Gln1356Pro) c.7295A>C (p.Gln2432Pro) | |
| 8 | g.99818524A>G | CA371773876 | VPS13B | c.8510A>G (p.Gln2837Arg) n.8580A>G c.*4192A>G (n.*4192A>G) c.8435A>G (p.Gln2812Arg) c.8507A>G (p.Gln2836Arg) c.8432A>G (p.Gln2811Arg) c.8132A>G (p.Gln2711Arg) c.5396A>G (p.Gln1799Arg) c.4289A>G (p.Gln1430Arg) c.8315A>G (p.Gln2772Arg) c.4067A>G (p.Gln1356Arg) c.7295A>G (p.Gln2432Arg) | |
| 8 | g.99818524A>T | CA371773874 | VPS13B | c.8510A>T (p.Gln2837Leu) n.8580A>T c.*4192A>T (n.*4192A>T) c.8435A>T (p.Gln2812Leu) c.8507A>T (p.Gln2836Leu) c.8432A>T (p.Gln2811Leu) c.8132A>T (p.Gln2711Leu) c.5396A>T (p.Gln1799Leu) c.4289A>T (p.Gln1430Leu) c.8315A>T (p.Gln2772Leu) c.4067A>T (p.Gln1356Leu) c.7295A>T (p.Gln2432Leu) | ClinVar dbSNP |
| 8 | g.99818525A>C | CA371773880 | VPS13B | c.8511A>C (p.Gln2837His) n.8581A>C c.*4193A>C (n.*4193A>C) c.8436A>C (p.Gln2812His) c.8508A>C (p.Gln2836His) c.8433A>C (p.Gln2811His) c.8133A>C (p.Gln2711His) c.5397A>C (p.Gln1799His) c.4290A>C (p.Gln1430His) c.8316A>C (p.Gln2772His) c.4068A>C (p.Gln1356His) c.7296A>C (p.Gln2432His) | |
| 8 | g.99818525A>G | CA182327971 | VPS13B | c.8511A>G (p.Gln2837=) n.8581A>G c.*4193A>G (n.*4193A>G) c.8436A>G (p.Gln2812=) c.8508A>G (p.Gln2836=) c.8433A>G (p.Gln2811=) c.8133A>G (p.Gln2711=) c.5397A>G (p.Gln1799=) c.4290A>G (p.Gln1430=) c.8316A>G (p.Gln2772=) c.4068A>G (p.Gln1356=) c.7296A>G (p.Gln2432=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818525A>T | CA371773882 | VPS13B | c.8511A>T (p.Gln2837His) n.8581A>T c.*4193A>T (n.*4193A>T) c.8436A>T (p.Gln2812His) c.8508A>T (p.Gln2836His) c.8433A>T (p.Gln2811His) c.8133A>T (p.Gln2711His) c.5397A>T (p.Gln1799His) c.4290A>T (p.Gln1430His) c.8316A>T (p.Gln2772His) c.4068A>T (p.Gln1356His) c.7296A>T (p.Gln2432His) | |
| 8 | g.99818526C>A | CA371773884 | VPS13B | c.8512C>A (p.Gln2838Lys) n.8582C>A c.*4194C>A (n.*4194C>A) c.8437C>A (p.Gln2813Lys) c.8509C>A (p.Gln2837Lys) c.8434C>A (p.Gln2812Lys) c.8134C>A (p.Gln2712Lys) c.5398C>A (p.Gln1800Lys) c.4291C>A (p.Gln1431Lys) c.8317C>A (p.Gln2773Lys) c.4069C>A (p.Gln1357Lys) c.7297C>A (p.Gln2433Lys) | |
| 8 | g.99818526C>G | CA371773886 | VPS13B | c.8512C>G (p.Gln2838Glu) n.8582C>G c.*4194C>G (n.*4194C>G) c.8437C>G (p.Gln2813Glu) c.8509C>G (p.Gln2837Glu) c.8434C>G (p.Gln2812Glu) c.8134C>G (p.Gln2712Glu) c.5398C>G (p.Gln1800Glu) c.4291C>G (p.Gln1431Glu) c.8317C>G (p.Gln2773Glu) c.4069C>G (p.Gln1357Glu) c.7297C>G (p.Gln2433Glu) | |
| 8 | g.99818526C>T | CA371773888 | VPS13B | c.8512C>T (p.Gln2838Ter) n.8582C>T c.*4194C>T (n.*4194C>T) c.8437C>T (p.Gln2813Ter) c.8509C>T (p.Gln2837Ter) c.8434C>T (p.Gln2812Ter) c.8134C>T (p.Gln2712Ter) c.5398C>T (p.Gln1800Ter) c.4291C>T (p.Gln1431Ter) c.8317C>T (p.Gln2773Ter) c.4069C>T (p.Gln1357Ter) c.7297C>T (p.Gln2433Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818527A>C | CA371773891 | VPS13B | c.8513A>C (p.Gln2838Pro) n.8583A>C c.*4195A>C (n.*4195A>C) c.8438A>C (p.Gln2813Pro) c.8510A>C (p.Gln2837Pro) c.8435A>C (p.Gln2812Pro) c.8135A>C (p.Gln2712Pro) c.5399A>C (p.Gln1800Pro) c.4292A>C (p.Gln1431Pro) c.8318A>C (p.Gln2773Pro) c.4070A>C (p.Gln1357Pro) c.7298A>C (p.Gln2433Pro) | |
| 8 | g.99818527A>G | CA371773893 | VPS13B | c.8513A>G (p.Gln2838Arg) n.8583A>G c.*4195A>G (n.*4195A>G) c.8438A>G (p.Gln2813Arg) c.8510A>G (p.Gln2837Arg) c.8435A>G (p.Gln2812Arg) c.8135A>G (p.Gln2712Arg) c.5399A>G (p.Gln1800Arg) c.4292A>G (p.Gln1431Arg) c.8318A>G (p.Gln2773Arg) c.4070A>G (p.Gln1357Arg) c.7298A>G (p.Gln2433Arg) | |
| 8 | g.99818527A>T | CA371773895 | VPS13B | c.8513A>T (p.Gln2838Leu) n.8583A>T c.*4195A>T (n.*4195A>T) c.8438A>T (p.Gln2813Leu) c.8510A>T (p.Gln2837Leu) c.8435A>T (p.Gln2812Leu) c.8135A>T (p.Gln2712Leu) c.5399A>T (p.Gln1800Leu) c.4292A>T (p.Gln1431Leu) c.8318A>T (p.Gln2773Leu) c.4070A>T (p.Gln1357Leu) c.7298A>T (p.Gln2433Leu) | |
| 8 | g.99818528A>C | CA371773896 | VPS13B | c.8514A>C (p.Gln2838His) n.8584A>C c.*4196A>C (n.*4196A>C) c.8439A>C (p.Gln2813His) c.8511A>C (p.Gln2837His) c.8436A>C (p.Gln2812His) c.8136A>C (p.Gln2712His) c.5400A>C (p.Gln1800His) c.4293A>C (p.Gln1431His) c.8319A>C (p.Gln2773His) c.4071A>C (p.Gln1357His) c.7299A>C (p.Gln2433His) | |
| 8 | g.99818528A>G | CA4824449 | VPS13B | c.8514A>G (p.Gln2838=) n.8584A>G c.*4196A>G (n.*4196A>G) c.8439A>G (p.Gln2813=) c.8511A>G (p.Gln2837=) c.8436A>G (p.Gln2812=) c.8136A>G (p.Gln2712=) c.5400A>G (p.Gln1800=) c.4293A>G (p.Gln1431=) c.8319A>G (p.Gln2773=) c.4071A>G (p.Gln1357=) c.7299A>G (p.Gln2433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818528A>T | CA371773898 | VPS13B | c.8514A>T (p.Gln2838His) n.8584A>T c.*4196A>T (n.*4196A>T) c.8439A>T (p.Gln2813His) c.8511A>T (p.Gln2837His) c.8436A>T (p.Gln2812His) c.8136A>T (p.Gln2712His) c.5400A>T (p.Gln1800His) c.4293A>T (p.Gln1431His) c.8319A>T (p.Gln2773His) c.4071A>T (p.Gln1357His) c.7299A>T (p.Gln2433His) | |
| 8 | g.99818529C>A | CA462457546 | VPS13B | c.8515C>A (p.Arg2839=) n.8585C>A c.*4197C>A (n.*4197C>A) c.8440C>A (p.Arg2814=) c.8512C>A (p.Arg2838=) c.8437C>A (p.Arg2813=) c.8137C>A (p.Arg2713=) c.5401C>A (p.Arg1801=) c.4294C>A (p.Arg1432=) c.8320C>A (p.Arg2774=) c.4072C>A (p.Arg1358=) c.7300C>A (p.Arg2434=) | |
| 8 | g.99818529C>G | CA371773900 | VPS13B | c.8515C>G (p.Arg2839Gly) n.8585C>G c.*4197C>G (n.*4197C>G) c.8440C>G (p.Arg2814Gly) c.8512C>G (p.Arg2838Gly) c.8437C>G (p.Arg2813Gly) c.8137C>G (p.Arg2713Gly) c.5401C>G (p.Arg1801Gly) c.4294C>G (p.Arg1432Gly) c.8320C>G (p.Arg2774Gly) c.4072C>G (p.Arg1358Gly) c.7300C>G (p.Arg2434Gly) | |
| 8 | g.99818529C>T | CA264143 | VPS13B | c.8515C>T (p.Arg2839Ter) n.8585C>T c.*4197C>T (n.*4197C>T) c.8440C>T (p.Arg2814Ter) c.8512C>T (p.Arg2838Ter) c.8437C>T (p.Arg2813Ter) c.8137C>T (p.Arg2713Ter) c.5401C>T (p.Arg1801Ter) c.4294C>T (p.Arg1432Ter) c.8320C>T (p.Arg2774Ter) c.4072C>T (p.Arg1358Ter) c.7300C>T (p.Arg2434Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818530G>A | CA4824451 | VPS13B | c.8516G>A (p.Arg2839Gln) n.8586G>A c.*4198G>A (n.*4198G>A) c.8441G>A (p.Arg2814Gln) c.8513G>A (p.Arg2838Gln) c.8438G>A (p.Arg2813Gln) c.8138G>A (p.Arg2713Gln) c.5402G>A (p.Arg1801Gln) c.4295G>A (p.Arg1432Gln) c.8321G>A (p.Arg2774Gln) c.4073G>A (p.Arg1358Gln) c.7301G>A (p.Arg2434Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818530G>C | CA371773903 | VPS13B | c.8516G>C (p.Arg2839Pro) n.8586G>C c.*4198G>C (n.*4198G>C) c.8441G>C (p.Arg2814Pro) c.8513G>C (p.Arg2838Pro) c.8438G>C (p.Arg2813Pro) c.8138G>C (p.Arg2713Pro) c.5402G>C (p.Arg1801Pro) c.4295G>C (p.Arg1432Pro) c.8321G>C (p.Arg2774Pro) c.4073G>C (p.Arg1358Pro) c.7301G>C (p.Arg2434Pro) | |
| 8 | g.99818530G>T | CA4824450 | VPS13B | c.8516G>T (p.Arg2839Leu) n.8586G>T c.*4198G>T (n.*4198G>T) c.8441G>T (p.Arg2814Leu) c.8513G>T (p.Arg2838Leu) c.8438G>T (p.Arg2813Leu) c.8138G>T (p.Arg2713Leu) c.5402G>T (p.Arg1801Leu) c.4295G>T (p.Arg1432Leu) c.8321G>T (p.Arg2774Leu) c.4073G>T (p.Arg1358Leu) c.7301G>T (p.Arg2434Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818531A>C | CA462457549 | VPS13B | c.8517A>C (p.Arg2839=) n.8587A>C c.*4199A>C (n.*4199A>C) c.8442A>C (p.Arg2814=) c.8514A>C (p.Arg2838=) c.8439A>C (p.Arg2813=) c.8139A>C (p.Arg2713=) c.5403A>C (p.Arg1801=) c.4296A>C (p.Arg1432=) c.8322A>C (p.Arg2774=) c.4074A>C (p.Arg1358=) c.7302A>C (p.Arg2434=) | |
| 8 | g.99818531A>G | CA462457554 | VPS13B | c.8517A>G (p.Arg2839=) n.8587A>G c.*4199A>G (n.*4199A>G) c.8442A>G (p.Arg2814=) c.8514A>G (p.Arg2838=) c.8439A>G (p.Arg2813=) c.8139A>G (p.Arg2713=) c.5403A>G (p.Arg1801=) c.4296A>G (p.Arg1432=) c.8322A>G (p.Arg2774=) c.4074A>G (p.Arg1358=) c.7302A>G (p.Arg2434=) | |
| 8 | g.99818531A>T | CA462457556 | VPS13B | c.8517A>T (p.Arg2839=) n.8587A>T c.*4199A>T (n.*4199A>T) c.8442A>T (p.Arg2814=) c.8514A>T (p.Arg2838=) c.8439A>T (p.Arg2813=) c.8139A>T (p.Arg2713=) c.5403A>T (p.Arg1801=) c.4296A>T (p.Arg1432=) c.8322A>T (p.Arg2774=) c.4074A>T (p.Arg1358=) c.7302A>T (p.Arg2434=) | |
| 8 | g.99818532A>C | CA371773906 | VPS13B | c.8518A>C (p.Met2840Leu) n.8588A>C c.*4200A>C (n.*4200A>C) c.8443A>C (p.Met2815Leu) c.8515A>C (p.Met2839Leu) c.8440A>C (p.Met2814Leu) c.8140A>C (p.Met2714Leu) c.5404A>C (p.Met1802Leu) c.4297A>C (p.Met1433Leu) c.8323A>C (p.Met2775Leu) c.4075A>C (p.Met1359Leu) c.7303A>C (p.Met2435Leu) | |
| 8 | g.99818532A>G | CA182327993 | VPS13B | c.8518A>G (p.Met2840Val) n.8588A>G c.*4200A>G (n.*4200A>G) c.8443A>G (p.Met2815Val) c.8515A>G (p.Met2839Val) c.8440A>G (p.Met2814Val) c.8140A>G (p.Met2714Val) c.5404A>G (p.Met1802Val) c.4297A>G (p.Met1433Val) c.8323A>G (p.Met2775Val) c.4075A>G (p.Met1359Val) c.7303A>G (p.Met2435Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818532A>T | CA371773909 | VPS13B | c.8518A>T (p.Met2840Leu) n.8588A>T c.*4200A>T (n.*4200A>T) c.8443A>T (p.Met2815Leu) c.8515A>T (p.Met2839Leu) c.8440A>T (p.Met2814Leu) c.8140A>T (p.Met2714Leu) c.5404A>T (p.Met1802Leu) c.4297A>T (p.Met1433Leu) c.8323A>T (p.Met2775Leu) c.4075A>T (p.Met1359Leu) c.7303A>T (p.Met2435Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818533T>A | CA371773911 | VPS13B | c.8519T>A (p.Met2840Lys) n.8589T>A c.*4201T>A (n.*4201T>A) c.8444T>A (p.Met2815Lys) c.8516T>A (p.Met2839Lys) c.8441T>A (p.Met2814Lys) c.8141T>A (p.Met2714Lys) c.5405T>A (p.Met1802Lys) c.4298T>A (p.Met1433Lys) c.8324T>A (p.Met2775Lys) c.4076T>A (p.Met1359Lys) c.7304T>A (p.Met2435Lys) | |
| 8 | g.99818533T>C | CA371773914 | VPS13B | c.8519T>C (p.Met2840Thr) n.8589T>C c.*4201T>C (n.*4201T>C) c.8444T>C (p.Met2815Thr) c.8516T>C (p.Met2839Thr) c.8441T>C (p.Met2814Thr) c.8141T>C (p.Met2714Thr) c.5405T>C (p.Met1802Thr) c.4298T>C (p.Met1433Thr) c.8324T>C (p.Met2775Thr) c.4076T>C (p.Met1359Thr) c.7304T>C (p.Met2435Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818533T>G | CA371773915 | VPS13B | c.8519T>G (p.Met2840Arg) n.8589T>G c.*4201T>G (n.*4201T>G) c.8444T>G (p.Met2815Arg) c.8516T>G (p.Met2839Arg) c.8441T>G (p.Met2814Arg) c.8141T>G (p.Met2714Arg) c.5405T>G (p.Met1802Arg) c.4298T>G (p.Met1433Arg) c.8324T>G (p.Met2775Arg) c.4076T>G (p.Met1359Arg) c.7304T>G (p.Met2435Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818534G>A | CA371773918 | VPS13B | c.8520G>A (p.Met2840Ile) n.8590G>A c.*4202G>A (n.*4202G>A) c.8445G>A (p.Met2815Ile) c.8517G>A (p.Met2839Ile) c.8442G>A (p.Met2814Ile) c.8142G>A (p.Met2714Ile) c.5406G>A (p.Met1802Ile) c.4299G>A (p.Met1433Ile) c.8325G>A (p.Met2775Ile) c.4077G>A (p.Met1359Ile) c.7305G>A (p.Met2435Ile) | gnomAD v4 |
| 8 | g.99818534G>C | CA371773920 | VPS13B | c.8520G>C (p.Met2840Ile) n.8590G>C c.*4202G>C (n.*4202G>C) c.8445G>C (p.Met2815Ile) c.8517G>C (p.Met2839Ile) c.8442G>C (p.Met2814Ile) c.8142G>C (p.Met2714Ile) c.5406G>C (p.Met1802Ile) c.4299G>C (p.Met1433Ile) c.8325G>C (p.Met2775Ile) c.4077G>C (p.Met1359Ile) c.7305G>C (p.Met2435Ile) | |
| 8 | g.99818534G>T | CA371773921 | VPS13B | c.8520G>T (p.Met2840Ile) n.8590G>T c.*4202G>T (n.*4202G>T) c.8445G>T (p.Met2815Ile) c.8517G>T (p.Met2839Ile) c.8442G>T (p.Met2814Ile) c.8142G>T (p.Met2714Ile) c.5406G>T (p.Met1802Ile) c.4299G>T (p.Met1433Ile) c.8325G>T (p.Met2775Ile) c.4077G>T (p.Met1359Ile) c.7305G>T (p.Met2435Ile) | |
| 8 | g.99818535G>A | CA371773923 | VPS13B | c.8520+1G>A (n.8520+1G>A) n.8590+1G>A c.*4202+1G>A (n.*4202+1G>A) c.8445+1G>A (n.8445+1G>A) c.8517+1G>A (n.8517+1G>A) c.8442+1G>A (n.8442+1G>A) c.8142+1G>A (n.8142+1G>A) c.5406+1G>A (n.5406+1G>A) c.4299+1G>A (n.4299+1G>A) c.8325+1G>A (n.8325+1G>A) c.4077+1G>A (n.4077+1G>A) c.7305+1G>A (n.7305+1G>A) | |
| 8 | g.99818535G>C | CA371773925 | VPS13B | c.8520+1G>C (n.8520+1G>C) n.8590+1G>C c.*4202+1G>C (n.*4202+1G>C) c.8445+1G>C (n.8445+1G>C) c.8517+1G>C (n.8517+1G>C) c.8442+1G>C (n.8442+1G>C) c.8142+1G>C (n.8142+1G>C) c.5406+1G>C (n.5406+1G>C) c.4299+1G>C (n.4299+1G>C) c.8325+1G>C (n.8325+1G>C) c.4077+1G>C (n.4077+1G>C) c.7305+1G>C (n.7305+1G>C) | ClinVar dbSNP |
| 8 | g.99818535G>T | CA371773927 | VPS13B | c.8520+1G>T (n.8520+1G>T) n.8590+1G>T c.*4202+1G>T (n.*4202+1G>T) c.8445+1G>T (n.8445+1G>T) c.8517+1G>T (n.8517+1G>T) c.8442+1G>T (n.8442+1G>T) c.8142+1G>T (n.8142+1G>T) c.5406+1G>T (n.5406+1G>T) c.4299+1G>T (n.4299+1G>T) c.8325+1G>T (n.8325+1G>T) c.4077+1G>T (n.4077+1G>T) c.7305+1G>T (n.7305+1G>T) | |
| 8 | g.99818536T>A | CA371773932 | VPS13B | c.8520+2T>A (n.8520+2T>A) n.8590+2T>A c.*4202+2T>A (n.*4202+2T>A) c.8445+2T>A (n.8445+2T>A) c.8517+2T>A (n.8517+2T>A) c.8442+2T>A (n.8442+2T>A) c.8142+2T>A (n.8142+2T>A) c.5406+2T>A (n.5406+2T>A) c.4299+2T>A (n.4299+2T>A) c.8325+2T>A (n.8325+2T>A) c.4077+2T>A (n.4077+2T>A) c.7305+2T>A (n.7305+2T>A) | |
| 8 | g.99818536T>C | CA371773934 | VPS13B | c.8520+2T>C (n.8520+2T>C) n.8590+2T>C c.*4202+2T>C (n.*4202+2T>C) c.8445+2T>C (n.8445+2T>C) c.8517+2T>C (n.8517+2T>C) c.8442+2T>C (n.8442+2T>C) c.8142+2T>C (n.8142+2T>C) c.5406+2T>C (n.5406+2T>C) c.4299+2T>C (n.4299+2T>C) c.8325+2T>C (n.8325+2T>C) c.4077+2T>C (n.4077+2T>C) c.7305+2T>C (n.7305+2T>C) | ClinVar dbSNP |
| 8 | g.99818536T>G | CA371773930 | VPS13B | c.8520+2T>G (n.8520+2T>G) n.8590+2T>G c.*4202+2T>G (n.*4202+2T>G) c.8445+2T>G (n.8445+2T>G) c.8517+2T>G (n.8517+2T>G) c.8442+2T>G (n.8442+2T>G) c.8142+2T>G (n.8142+2T>G) c.5406+2T>G (n.5406+2T>G) c.4299+2T>G (n.4299+2T>G) c.8325+2T>G (n.8325+2T>G) c.4077+2T>G (n.4077+2T>G) c.7305+2T>G (n.7305+2T>G) | |
| 8 | g.99818537G>A | CA2551648063 | VPS13B | c.8520+3G>A (n.8520+3G>A) n.8590+3G>A c.*4202+3G>A (n.*4202+3G>A) c.8445+3G>A (n.8445+3G>A) c.8517+3G>A (n.8517+3G>A) c.8442+3G>A (n.8442+3G>A) c.8142+3G>A (n.8142+3G>A) c.5406+3G>A (n.5406+3G>A) c.4299+3G>A (n.4299+3G>A) c.8325+3G>A (n.8325+3G>A) c.4077+3G>A (n.4077+3G>A) c.7305+3G>A (n.7305+3G>A) | |
| 8 | g.99818538A>C | CA2602579608 | VPS13B | c.8520+4A>C (n.8520+4A>C) n.8590+4A>C c.*4202+4A>C (n.*4202+4A>C) c.8445+4A>C (n.8445+4A>C) c.8517+4A>C (n.8517+4A>C) c.8442+4A>C (n.8442+4A>C) c.8142+4A>C (n.8142+4A>C) c.5406+4A>C (n.5406+4A>C) c.4299+4A>C (n.4299+4A>C) c.8325+4A>C (n.8325+4A>C) c.4077+4A>C (n.4077+4A>C) c.7305+4A>C (n.7305+4A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818538A>G | CA2740966396 | VPS13B | c.8520+4A>G (n.8520+4A>G) n.8590+4A>G c.*4202+4A>G (n.*4202+4A>G) c.8445+4A>G (n.8445+4A>G) c.8517+4A>G (n.8517+4A>G) c.8442+4A>G (n.8442+4A>G) c.8142+4A>G (n.8142+4A>G) c.5406+4A>G (n.5406+4A>G) c.4299+4A>G (n.4299+4A>G) c.8325+4A>G (n.8325+4A>G) c.4077+4A>G (n.4077+4A>G) c.7305+4A>G (n.7305+4A>G) | |
| 8 | g.99818539G>A | CA2688069430 | VPS13B | c.8520+5G>A (n.8520+5G>A) n.8590+5G>A c.*4202+5G>A (n.*4202+5G>A) c.8445+5G>A (n.8445+5G>A) c.8517+5G>A (n.8517+5G>A) c.8442+5G>A (n.8442+5G>A) c.8142+5G>A (n.8142+5G>A) c.5406+5G>A (n.5406+5G>A) c.4299+5G>A (n.4299+5G>A) c.8325+5G>A (n.8325+5G>A) c.4077+5G>A (n.4077+5G>A) c.7305+5G>A (n.7305+5G>A) | gnomAD v4 |
| 8 | g.99818541G>A | CA2499219488 | VPS13B | c.8520+7G>A (n.8520+7G>A) n.8590+7G>A c.*4202+7G>A (n.*4202+7G>A) c.8445+7G>A (n.8445+7G>A) c.8517+7G>A (n.8517+7G>A) c.8442+7G>A (n.8442+7G>A) c.8142+7G>A (n.8142+7G>A) c.5406+7G>A (n.5406+7G>A) c.4299+7G>A (n.4299+7G>A) c.8325+7G>A (n.8325+7G>A) c.4077+7G>A (n.4077+7G>A) c.7305+7G>A (n.7305+7G>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818542C>A | CA2688069431 | VPS13B | c.8520+8C>A (n.8520+8C>A) n.8590+8C>A c.*4202+8C>A (n.*4202+8C>A) c.8445+8C>A (n.8445+8C>A) c.8517+8C>A (n.8517+8C>A) c.8442+8C>A (n.8442+8C>A) c.8142+8C>A (n.8142+8C>A) c.5406+8C>A (n.5406+8C>A) c.4299+8C>A (n.4299+8C>A) c.8325+8C>A (n.8325+8C>A) c.4077+8C>A (n.4077+8C>A) c.7305+8C>A (n.7305+8C>A) | gnomAD v4 |
| 8 | g.99818542C>G | CA2580079203 | VPS13B | c.8520+8C>G (n.8520+8C>G) n.8590+8C>G c.*4202+8C>G (n.*4202+8C>G) c.8445+8C>G (n.8445+8C>G) c.8517+8C>G (n.8517+8C>G) c.8442+8C>G (n.8442+8C>G) c.8142+8C>G (n.8142+8C>G) c.5406+8C>G (n.5406+8C>G) c.4299+8C>G (n.4299+8C>G) c.8325+8C>G (n.8325+8C>G) c.4077+8C>G (n.4077+8C>G) c.7305+8C>G (n.7305+8C>G) | ClinVar dbSNP |
| 8 | g.99818542C>T | CA658772305 | VPS13B | c.8520+8C>T (n.8520+8C>T) n.8590+8C>T c.*4202+8C>T (n.*4202+8C>T) c.8445+8C>T (n.8445+8C>T) c.8517+8C>T (n.8517+8C>T) c.8442+8C>T (n.8442+8C>T) c.8142+8C>T (n.8142+8C>T) c.5406+8C>T (n.5406+8C>T) c.4299+8C>T (n.4299+8C>T) c.8325+8C>T (n.8325+8C>T) c.4077+8C>T (n.4077+8C>T) c.7305+8C>T (n.7305+8C>T) | |
| 8 | g.99818545dup | CA857599107 | VPS13B | c.8520+11dup (n.8520+11dup) n.8590+11dup c.*4202+11dup (n.*4202+11dup) c.8445+11dup (n.8445+11dup) c.8517+11dup (n.8517+11dup) c.8442+11dup (n.8442+11dup) c.8142+11dup (n.8142+11dup) c.5406+11dup (n.5406+11dup) c.4299+11dup (n.4299+11dup) c.8325+11dup (n.8325+11dup) c.4077+11dup (n.4077+11dup) c.7305+11dup (n.7305+11dup) | dbSNP |
| 8 | g.99818546C>A | CA2688069432 | VPS13B | c.8520+12C>A (n.8520+12C>A) n.8590+12C>A c.*4202+12C>A (n.*4202+12C>A) c.8445+12C>A (n.8445+12C>A) c.8517+12C>A (n.8517+12C>A) c.8442+12C>A (n.8442+12C>A) c.8142+12C>A (n.8142+12C>A) c.5406+12C>A (n.5406+12C>A) c.4299+12C>A (n.4299+12C>A) c.8325+12C>A (n.8325+12C>A) c.4077+12C>A (n.4077+12C>A) c.7305+12C>A (n.7305+12C>A) | gnomAD v4 |
| 8 | g.99818546C>T | CA2688069433 | VPS13B | c.8520+12C>T (n.8520+12C>T) n.8590+12C>T c.*4202+12C>T (n.*4202+12C>T) c.8445+12C>T (n.8445+12C>T) c.8517+12C>T (n.8517+12C>T) c.8442+12C>T (n.8442+12C>T) c.8142+12C>T (n.8142+12C>T) c.5406+12C>T (n.5406+12C>T) c.4299+12C>T (n.4299+12C>T) c.8325+12C>T (n.8325+12C>T) c.4077+12C>T (n.4077+12C>T) c.7305+12C>T (n.7305+12C>T) | gnomAD v4 |
| 8 | g.99818548del | CA2565552110 | VPS13B | c.8520+14del (n.8520+14del) n.8590+14del c.*4202+14del (n.*4202+14del) c.8445+14del (n.8445+14del) c.8517+14del (n.8517+14del) c.8442+14del (n.8442+14del) c.8142+14del (n.8142+14del) c.5406+14del (n.5406+14del) c.4299+14del (n.4299+14del) c.8325+14del (n.8325+14del) c.4077+14del (n.4077+14del) c.7305+14del (n.7305+14del) | |
| 8 | g.99818547_99818548del | CA2549059667 | VPS13B | c.8520+13_8520+14del (n.8520+13_8520+14del) n.8590+13_8590+14del c.*4202+13_*4202+14del (n.*4202+13_*4202+14del) c.8445+13_8445+14del (n.8445+13_8445+14del) c.8517+13_8517+14del (n.8517+13_8517+14del) c.8442+13_8442+14del (n.8442+13_8442+14del) c.8142+13_8142+14del (n.8142+13_8142+14del) c.5406+13_5406+14del (n.5406+13_5406+14del) c.4299+13_4299+14del (n.4299+13_4299+14del) c.8325+13_8325+14del (n.8325+13_8325+14del) c.4077+13_4077+14del (n.4077+13_4077+14del) c.7305+13_7305+14del (n.7305+13_7305+14del) | |
| 8 | g.99818547C>G | CA2532959258 | VPS13B | c.8520+13C>G (n.8520+13C>G) n.8590+13C>G c.*4202+13C>G (n.*4202+13C>G) c.8445+13C>G (n.8445+13C>G) c.8517+13C>G (n.8517+13C>G) c.8442+13C>G (n.8442+13C>G) c.8142+13C>G (n.8142+13C>G) c.5406+13C>G (n.5406+13C>G) c.4299+13C>G (n.4299+13C>G) c.8325+13C>G (n.8325+13C>G) c.4077+13C>G (n.4077+13C>G) c.7305+13C>G (n.7305+13C>G) | |
| 8 | g.99818547C>T | CA182327997 | VPS13B | c.8520+13C>T (n.8520+13C>T) n.8590+13C>T c.*4202+13C>T (n.*4202+13C>T) c.8445+13C>T (n.8445+13C>T) c.8517+13C>T (n.8517+13C>T) c.8442+13C>T (n.8442+13C>T) c.8142+13C>T (n.8142+13C>T) c.5406+13C>T (n.5406+13C>T) c.4299+13C>T (n.4299+13C>T) c.8325+13C>T (n.8325+13C>T) c.4077+13C>T (n.4077+13C>T) c.7305+13C>T (n.7305+13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818548C>T | CA2573143486 | VPS13B | c.8520+14C>T (n.8520+14C>T) n.8590+14C>T c.*4202+14C>T (n.*4202+14C>T) c.8445+14C>T (n.8445+14C>T) c.8517+14C>T (n.8517+14C>T) c.8442+14C>T (n.8442+14C>T) c.8142+14C>T (n.8142+14C>T) c.5406+14C>T (n.5406+14C>T) c.4299+14C>T (n.4299+14C>T) c.8325+14C>T (n.8325+14C>T) c.4077+14C>T (n.4077+14C>T) c.7305+14C>T (n.7305+14C>T) | ClinVar dbSNP |
| 8 | g.99818549A>C | CA2580079204 | VPS13B | c.8520+15A>C (n.8520+15A>C) n.8590+15A>C c.*4202+15A>C (n.*4202+15A>C) c.8445+15A>C (n.8445+15A>C) c.8517+15A>C (n.8517+15A>C) c.8442+15A>C (n.8442+15A>C) c.8142+15A>C (n.8142+15A>C) c.5406+15A>C (n.5406+15A>C) c.4299+15A>C (n.4299+15A>C) c.8325+15A>C (n.8325+15A>C) c.4077+15A>C (n.4077+15A>C) c.7305+15A>C (n.7305+15A>C) | ClinVar |
| 8 | g.99818549_99818550insG | CA2535071676 | VPS13B | c.8520+15_8520+16insG (n.8520+15_8520+16insG) n.8590+15_8590+16insG c.*4202+15_*4202+16insG (n.*4202+15_*4202+16insG) c.8445+15_8445+16insG (n.8445+15_8445+16insG) c.8517+15_8517+16insG (n.8517+15_8517+16insG) c.8442+15_8442+16insG (n.8442+15_8442+16insG) c.8142+15_8142+16insG (n.8142+15_8142+16insG) c.5406+15_5406+16insG (n.5406+15_5406+16insG) c.4299+15_4299+16insG (n.4299+15_4299+16insG) c.8325+15_8325+16insG (n.8325+15_8325+16insG) c.4077+15_4077+16insG (n.4077+15_4077+16insG) c.7305+15_7305+16insG (n.7305+15_7305+16insG) | |
| 8 | g.99818550A>G | CA1117126110 | VPS13B | c.8520+16A>G (n.8520+16A>G) n.8590+16A>G c.*4202+16A>G (n.*4202+16A>G) c.8445+16A>G (n.8445+16A>G) c.8517+16A>G (n.8517+16A>G) c.8442+16A>G (n.8442+16A>G) c.8142+16A>G (n.8142+16A>G) c.5406+16A>G (n.5406+16A>G) c.4299+16A>G (n.4299+16A>G) c.8325+16A>G (n.8325+16A>G) c.4077+16A>G (n.4077+16A>G) c.7305+16A>G (n.7305+16A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818551T>A | CA2688069434 | VPS13B | c.8520+17T>A (n.8520+17T>A) n.8590+17T>A c.*4202+17T>A (n.*4202+17T>A) c.8445+17T>A (n.8445+17T>A) c.8517+17T>A (n.8517+17T>A) c.8442+17T>A (n.8442+17T>A) c.8142+17T>A (n.8142+17T>A) c.5406+17T>A (n.5406+17T>A) c.4299+17T>A (n.4299+17T>A) c.8325+17T>A (n.8325+17T>A) c.4077+17T>A (n.4077+17T>A) c.7305+17T>A (n.7305+17T>A) | gnomAD v4 |
| 8 | g.99818553C>T | CA182328009 | VPS13B | c.8520+19C>T (n.8520+19C>T) n.8590+19C>T c.*4202+19C>T (n.*4202+19C>T) c.8445+19C>T (n.8445+19C>T) c.8517+19C>T (n.8517+19C>T) c.8442+19C>T (n.8442+19C>T) c.8142+19C>T (n.8142+19C>T) c.5406+19C>T (n.5406+19C>T) c.4299+19C>T (n.4299+19C>T) c.8325+19C>T (n.8325+19C>T) c.4077+19C>T (n.4077+19C>T) c.7305+19C>T (n.7305+19C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818554T>C | CA4824452 | VPS13B | c.8520+20T>C (n.8520+20T>C) n.8590+20T>C c.*4202+20T>C (n.*4202+20T>C) c.8445+20T>C (n.8445+20T>C) c.8517+20T>C (n.8517+20T>C) c.8442+20T>C (n.8442+20T>C) c.8142+20T>C (n.8142+20T>C) c.5406+20T>C (n.5406+20T>C) c.4299+20T>C (n.4299+20T>C) c.8325+20T>C (n.8325+20T>C) c.4077+20T>C (n.4077+20T>C) c.7305+20T>C (n.7305+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818556A>G | CA857599113 | VPS13B | c.8520+22A>G (n.8520+22A>G) n.8590+22A>G c.*4202+22A>G (n.*4202+22A>G) c.8445+22A>G (n.8445+22A>G) c.8517+22A>G (n.8517+22A>G) c.8442+22A>G (n.8442+22A>G) c.8142+22A>G (n.8142+22A>G) c.5406+22A>G (n.5406+22A>G) c.4299+22A>G (n.4299+22A>G) c.8325+22A>G (n.8325+22A>G) c.4077+22A>G (n.4077+22A>G) c.7305+22A>G (n.7305+22A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818560A>G | CA2688069435 | VPS13B | c.8520+26A>G (n.8520+26A>G) n.8590+26A>G c.*4202+26A>G (n.*4202+26A>G) c.8445+26A>G (n.8445+26A>G) c.8517+26A>G (n.8517+26A>G) c.8442+26A>G (n.8442+26A>G) c.8142+26A>G (n.8142+26A>G) c.5406+26A>G (n.5406+26A>G) c.4299+26A>G (n.4299+26A>G) c.8325+26A>G (n.8325+26A>G) c.4077+26A>G (n.4077+26A>G) c.7305+26A>G (n.7305+26A>G) | gnomAD v4 |
| 8 | g.99818561T>C | CA4824453 | VPS13B | c.8520+27T>C (n.8520+27T>C) n.8590+27T>C c.*4202+27T>C (n.*4202+27T>C) c.8445+27T>C (n.8445+27T>C) c.8517+27T>C (n.8517+27T>C) c.8442+27T>C (n.8442+27T>C) c.8142+27T>C (n.8142+27T>C) c.5406+27T>C (n.5406+27T>C) c.4299+27T>C (n.4299+27T>C) c.8325+27T>C (n.8325+27T>C) c.4077+27T>C (n.4077+27T>C) c.7305+27T>C (n.7305+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818562G>A | CA583872685 | VPS13B | c.8520+28G>A (n.8520+28G>A) n.8590+28G>A c.*4202+28G>A (n.*4202+28G>A) c.8445+28G>A (n.8445+28G>A) c.8517+28G>A (n.8517+28G>A) c.8442+28G>A (n.8442+28G>A) c.8142+28G>A (n.8142+28G>A) c.5406+28G>A (n.5406+28G>A) c.4299+28G>A (n.4299+28G>A) c.8325+28G>A (n.8325+28G>A) c.4077+28G>A (n.4077+28G>A) c.7305+28G>A (n.7305+28G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818563G>A | CA2602579609 | VPS13B | c.8520+29G>A (n.8520+29G>A) n.8590+29G>A c.*4202+29G>A (n.*4202+29G>A) c.8445+29G>A (n.8445+29G>A) c.8517+29G>A (n.8517+29G>A) c.8442+29G>A (n.8442+29G>A) c.8142+29G>A (n.8142+29G>A) c.5406+29G>A (n.5406+29G>A) c.4299+29G>A (n.4299+29G>A) c.8325+29G>A (n.8325+29G>A) c.4077+29G>A (n.4077+29G>A) c.7305+29G>A (n.7305+29G>A) | gnomAD v3 gnomAD v4 |
| 8 | g.99818563G>C | CA2579216256 | VPS13B | c.8520+29G>C (n.8520+29G>C) n.8590+29G>C c.*4202+29G>C (n.*4202+29G>C) c.8445+29G>C (n.8445+29G>C) c.8517+29G>C (n.8517+29G>C) c.8442+29G>C (n.8442+29G>C) c.8142+29G>C (n.8142+29G>C) c.5406+29G>C (n.5406+29G>C) c.4299+29G>C (n.4299+29G>C) c.8325+29G>C (n.8325+29G>C) c.4077+29G>C (n.4077+29G>C) c.7305+29G>C (n.7305+29G>C) | |
| 8 | g.99818564T>C | CA2579216257 | VPS13B | c.8520+30T>C (n.8520+30T>C) n.8590+30T>C c.*4202+30T>C (n.*4202+30T>C) c.8445+30T>C (n.8445+30T>C) c.8517+30T>C (n.8517+30T>C) c.8442+30T>C (n.8442+30T>C) c.8142+30T>C (n.8142+30T>C) c.5406+30T>C (n.5406+30T>C) c.4299+30T>C (n.4299+30T>C) c.8325+30T>C (n.8325+30T>C) c.4077+30T>C (n.4077+30T>C) c.7305+30T>C (n.7305+30T>C) | gnomAD v4 |
| 8 | g.99818564T>G | CA2688069436 | VPS13B | c.8520+30T>G (n.8520+30T>G) n.8590+30T>G c.*4202+30T>G (n.*4202+30T>G) c.8445+30T>G (n.8445+30T>G) c.8517+30T>G (n.8517+30T>G) c.8442+30T>G (n.8442+30T>G) c.8142+30T>G (n.8142+30T>G) c.5406+30T>G (n.5406+30T>G) c.4299+30T>G (n.4299+30T>G) c.8325+30T>G (n.8325+30T>G) c.4077+30T>G (n.4077+30T>G) c.7305+30T>G (n.7305+30T>G) | gnomAD v4 |
| 8 | g.99818565A>G | CA4824454 | VPS13B | c.8520+31A>G (n.8520+31A>G) n.8590+31A>G c.*4202+31A>G (n.*4202+31A>G) c.8445+31A>G (n.8445+31A>G) c.8517+31A>G (n.8517+31A>G) c.8442+31A>G (n.8442+31A>G) c.8142+31A>G (n.8142+31A>G) c.5406+31A>G (n.5406+31A>G) c.4299+31A>G (n.4299+31A>G) c.8325+31A>G (n.8325+31A>G) c.4077+31A>G (n.4077+31A>G) c.7305+31A>G (n.7305+31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818568T>C | CA2579216258 | VPS13B | c.8520+34T>C (n.8520+34T>C) n.8590+34T>C c.*4202+34T>C (n.*4202+34T>C) c.8445+34T>C (n.8445+34T>C) c.8517+34T>C (n.8517+34T>C) c.8442+34T>C (n.8442+34T>C) c.8142+34T>C (n.8142+34T>C) c.5406+34T>C (n.5406+34T>C) c.4299+34T>C (n.4299+34T>C) c.8325+34T>C (n.8325+34T>C) c.4077+34T>C (n.4077+34T>C) c.7305+34T>C (n.7305+34T>C) | gnomAD v4 |
| 8 | g.99818569G>A | CA2579216259 | VPS13B | c.8520+35G>A (n.8520+35G>A) n.8590+35G>A c.*4202+35G>A (n.*4202+35G>A) c.8445+35G>A (n.8445+35G>A) c.8517+35G>A (n.8517+35G>A) c.8442+35G>A (n.8442+35G>A) c.8142+35G>A (n.8142+35G>A) c.5406+35G>A (n.5406+35G>A) c.4299+35G>A (n.4299+35G>A) c.8325+35G>A (n.8325+35G>A) c.4077+35G>A (n.4077+35G>A) c.7305+35G>A (n.7305+35G>A) | |
| 8 | g.99818570A>G | CA2688069437 | VPS13B | c.8520+36A>G (n.8520+36A>G) n.8590+36A>G c.*4202+36A>G (n.*4202+36A>G) c.8445+36A>G (n.8445+36A>G) c.8517+36A>G (n.8517+36A>G) c.8442+36A>G (n.8442+36A>G) c.8142+36A>G (n.8142+36A>G) c.5406+36A>G (n.5406+36A>G) c.4299+36A>G (n.4299+36A>G) c.8325+36A>G (n.8325+36A>G) c.4077+36A>G (n.4077+36A>G) c.7305+36A>G (n.7305+36A>G) | gnomAD v4 |
| 8 | g.99818571C>G | CA2688069438 | VPS13B | c.8520+37C>G (n.8520+37C>G) n.8590+37C>G c.*4202+37C>G (n.*4202+37C>G) c.8445+37C>G (n.8445+37C>G) c.8517+37C>G (n.8517+37C>G) c.8442+37C>G (n.8442+37C>G) c.8142+37C>G (n.8142+37C>G) c.5406+37C>G (n.5406+37C>G) c.4299+37C>G (n.4299+37C>G) c.8325+37C>G (n.8325+37C>G) c.4077+37C>G (n.4077+37C>G) c.7305+37C>G (n.7305+37C>G) | gnomAD v4 |
| 8 | g.99818573_99818574del | CA583872691 | VPS13B | c.8520+39_8520+40del (n.8520+39_8520+40del) n.8590+39_8590+40del c.*4202+39_*4202+40del (n.*4202+39_*4202+40del) c.8445+39_8445+40del (n.8445+39_8445+40del) c.8517+39_8517+40del (n.8517+39_8517+40del) c.8442+39_8442+40del (n.8442+39_8442+40del) c.8142+39_8142+40del (n.8142+39_8142+40del) c.5406+39_5406+40del (n.5406+39_5406+40del) c.4299+39_4299+40del (n.4299+39_4299+40del) c.8325+39_8325+40del (n.8325+39_8325+40del) c.4077+39_4077+40del (n.4077+39_4077+40del) c.7305+39_7305+40del (n.7305+39_7305+40del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818572T>G | CA182328013 | VPS13B | c.8520+38T>G (n.8520+38T>G) n.8590+38T>G c.*4202+38T>G (n.*4202+38T>G) c.8445+38T>G (n.8445+38T>G) c.8517+38T>G (n.8517+38T>G) c.8442+38T>G (n.8442+38T>G) c.8142+38T>G (n.8142+38T>G) c.5406+38T>G (n.5406+38T>G) c.4299+38T>G (n.4299+38T>G) c.8325+38T>G (n.8325+38T>G) c.4077+38T>G (n.4077+38T>G) c.7305+38T>G (n.7305+38T>G) | dbSNP |
| 8 | g.99818575G>T | CA2688069439 | VPS13B | c.8520+41G>T (n.8520+41G>T) n.8590+41G>T c.*4202+41G>T (n.*4202+41G>T) c.8445+41G>T (n.8445+41G>T) c.8517+41G>T (n.8517+41G>T) c.8442+41G>T (n.8442+41G>T) c.8142+41G>T (n.8142+41G>T) c.5406+41G>T (n.5406+41G>T) c.4299+41G>T (n.4299+41G>T) c.8325+41G>T (n.8325+41G>T) c.4077+41G>T (n.4077+41G>T) c.7305+41G>T (n.7305+41G>T) | gnomAD v4 |
| 8 | g.99818578C>A | CA857599136 | VPS13B | c.8520+44C>A (n.8520+44C>A) n.8590+44C>A c.*4202+44C>A (n.*4202+44C>A) c.8445+44C>A (n.8445+44C>A) c.8517+44C>A (n.8517+44C>A) c.8442+44C>A (n.8442+44C>A) c.8142+44C>A (n.8142+44C>A) c.5406+44C>A (n.5406+44C>A) c.4299+44C>A (n.4299+44C>A) c.8325+44C>A (n.8325+44C>A) c.4077+44C>A (n.4077+44C>A) c.7305+44C>A (n.7305+44C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818578_99818579insACA | CA2781475935 | VPS13B | c.8520+44_8520+45insACA (n.8520+44_8520+45insACA) n.8590+44_8590+45insACA c.*4202+44_*4202+45insACA (n.*4202+44_*4202+45insACA) c.8445+44_8445+45insACA (n.8445+44_8445+45insACA) c.8517+44_8517+45insACA (n.8517+44_8517+45insACA) c.8442+44_8442+45insACA (n.8442+44_8442+45insACA) c.8142+44_8142+45insACA (n.8142+44_8142+45insACA) c.5406+44_5406+45insACA (n.5406+44_5406+45insACA) c.4299+44_4299+45insACA (n.4299+44_4299+45insACA) c.8325+44_8325+45insACA (n.8325+44_8325+45insACA) c.4077+44_4077+45insACA (n.4077+44_4077+45insACA) c.7305+44_7305+45insACA (n.7305+44_7305+45insACA) |