WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99818473T>A | CA371773641 | VPS13B | c.8459T>A (p.Ile2820Asn) n.8529T>A c.*4141T>A (n.*4141T>A) c.8384T>A (p.Ile2795Asn) c.8456T>A (p.Ile2819Asn) c.8381T>A (p.Ile2794Asn) c.8081T>A (p.Ile2694Asn) c.5345T>A (p.Ile1782Asn) c.4238T>A (p.Ile1413Asn) c.8264T>A (p.Ile2755Asn) c.4016T>A (p.Ile1339Asn) c.7244T>A (p.Ile2415Asn) | |
| 8 | g.99818473T>C | CA252457 | VPS13B | c.8459T>C (p.Ile2820Thr) n.8529T>C c.*4141T>C (n.*4141T>C) c.8384T>C (p.Ile2795Thr) c.8456T>C (p.Ile2819Thr) c.8381T>C (p.Ile2794Thr) c.8081T>C (p.Ile2694Thr) c.5345T>C (p.Ile1782Thr) c.4238T>C (p.Ile1413Thr) c.8264T>C (p.Ile2755Thr) c.4016T>C (p.Ile1339Thr) c.7244T>C (p.Ile2415Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818473T>G | CA371773643 | VPS13B | c.8459T>G (p.Ile2820Ser) n.8529T>G c.*4141T>G (n.*4141T>G) c.8384T>G (p.Ile2795Ser) c.8456T>G (p.Ile2819Ser) c.8381T>G (p.Ile2794Ser) c.8081T>G (p.Ile2694Ser) c.5345T>G (p.Ile1782Ser) c.4238T>G (p.Ile1413Ser) c.8264T>G (p.Ile2755Ser) c.4016T>G (p.Ile1339Ser) c.7244T>G (p.Ile2415Ser) | |
| 8 | g.99818474T>A | CA462457416 | VPS13B | c.8460T>A (p.Ile2820=) n.8530T>A c.*4142T>A (n.*4142T>A) c.8385T>A (p.Ile2795=) c.8457T>A (p.Ile2819=) c.8382T>A (p.Ile2794=) c.8082T>A (p.Ile2694=) c.5346T>A (p.Ile1782=) c.4239T>A (p.Ile1413=) c.8265T>A (p.Ile2755=) c.4017T>A (p.Ile1339=) c.7245T>A (p.Ile2415=) | |
| 8 | g.99818474T>C | CA462457417 | VPS13B | c.8460T>C (p.Ile2820=) n.8530T>C c.*4142T>C (n.*4142T>C) c.8385T>C (p.Ile2795=) c.8457T>C (p.Ile2819=) c.8382T>C (p.Ile2794=) c.8082T>C (p.Ile2694=) c.5346T>C (p.Ile1782=) c.4239T>C (p.Ile1413=) c.8265T>C (p.Ile2755=) c.4017T>C (p.Ile1339=) c.7245T>C (p.Ile2415=) | |
| 8 | g.99818474T>G | CA371773645 | VPS13B | c.8460T>G (p.Ile2820Met) n.8530T>G c.*4142T>G (n.*4142T>G) c.8385T>G (p.Ile2795Met) c.8457T>G (p.Ile2819Met) c.8382T>G (p.Ile2794Met) c.8082T>G (p.Ile2694Met) c.5346T>G (p.Ile1782Met) c.4239T>G (p.Ile1413Met) c.8265T>G (p.Ile2755Met) c.4017T>G (p.Ile1339Met) c.7245T>G (p.Ile2415Met) | |
| 8 | g.99818475A>C | CA371773647 | VPS13B | c.8461A>C (p.Ile2821Leu) n.8531A>C c.*4143A>C (n.*4143A>C) c.8386A>C (p.Ile2796Leu) c.8458A>C (p.Ile2820Leu) c.8383A>C (p.Ile2795Leu) c.8083A>C (p.Ile2695Leu) c.5347A>C (p.Ile1783Leu) c.4240A>C (p.Ile1414Leu) c.8266A>C (p.Ile2756Leu) c.4018A>C (p.Ile1340Leu) c.7246A>C (p.Ile2416Leu) | |
| 8 | g.99818475A>G | CA4824442 | VPS13B | c.8461A>G (p.Ile2821Val) n.8531A>G c.*4143A>G (n.*4143A>G) c.8386A>G (p.Ile2796Val) c.8458A>G (p.Ile2820Val) c.8383A>G (p.Ile2795Val) c.8083A>G (p.Ile2695Val) c.5347A>G (p.Ile1783Val) c.4240A>G (p.Ile1414Val) c.8266A>G (p.Ile2756Val) c.4018A>G (p.Ile1340Val) c.7246A>G (p.Ile2416Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99818475A>T | CA371773649 | VPS13B | c.8461A>T (p.Ile2821Phe) n.8531A>T c.*4143A>T (n.*4143A>T) c.8386A>T (p.Ile2796Phe) c.8458A>T (p.Ile2820Phe) c.8383A>T (p.Ile2795Phe) c.8083A>T (p.Ile2695Phe) c.5347A>T (p.Ile1783Phe) c.4240A>T (p.Ile1414Phe) c.8266A>T (p.Ile2756Phe) c.4018A>T (p.Ile1340Phe) c.7246A>T (p.Ile2416Phe) | gnomAD v4 |
| 8 | g.99818475dup | CA2697550095 | VPS13B | c.8461dup (p.Ile2821AsnfsTer?) n.8531dup c.*4143dup (n.*4143dup) c.8386dup (p.Ile2796AsnfsTer?) c.8458dup (p.Ile2820AsnfsTer?) c.8383dup (p.Ile2795AsnfsTer?) c.8083dup (p.Ile2695AsnfsTer?) c.5347dup (p.Ile1783AsnfsTer?) c.4240dup (p.Ile1414AsnfsTer?) c.8266dup (p.Ile2756AsnfsTer?) c.4018dup (p.Ile1340AsnfsTer?) c.7246dup (p.Ile2416AsnfsTer?) | ClinVar |
| 8 | g.99818476T>A | CA371773652 | VPS13B | c.8462T>A (p.Ile2821Asn) n.8532T>A c.*4144T>A (n.*4144T>A) c.8387T>A (p.Ile2796Asn) c.8459T>A (p.Ile2820Asn) c.8384T>A (p.Ile2795Asn) c.8084T>A (p.Ile2695Asn) c.5348T>A (p.Ile1783Asn) c.4241T>A (p.Ile1414Asn) c.8267T>A (p.Ile2756Asn) c.4019T>A (p.Ile1340Asn) c.7247T>A (p.Ile2416Asn) | |
| 8 | g.99818476T>C | CA371773655 | VPS13B | c.8462T>C (p.Ile2821Thr) n.8532T>C c.*4144T>C (n.*4144T>C) c.8387T>C (p.Ile2796Thr) c.8459T>C (p.Ile2820Thr) c.8384T>C (p.Ile2795Thr) c.8084T>C (p.Ile2695Thr) c.5348T>C (p.Ile1783Thr) c.4241T>C (p.Ile1414Thr) c.8267T>C (p.Ile2756Thr) c.4019T>C (p.Ile1340Thr) c.7247T>C (p.Ile2416Thr) | |
| 8 | g.99818476T>G | CA371773657 | VPS13B | c.8462T>G (p.Ile2821Ser) n.8532T>G c.*4144T>G (n.*4144T>G) c.8387T>G (p.Ile2796Ser) c.8459T>G (p.Ile2820Ser) c.8384T>G (p.Ile2795Ser) c.8084T>G (p.Ile2695Ser) c.5348T>G (p.Ile1783Ser) c.4241T>G (p.Ile1414Ser) c.8267T>G (p.Ile2756Ser) c.4019T>G (p.Ile1340Ser) c.7247T>G (p.Ile2416Ser) | |
| 8 | g.99818477T>A | CA462457418 | VPS13B | c.8463T>A (p.Ile2821=) n.8533T>A c.*4145T>A (n.*4145T>A) c.8388T>A (p.Ile2796=) c.8460T>A (p.Ile2820=) c.8385T>A (p.Ile2795=) c.8085T>A (p.Ile2695=) c.5349T>A (p.Ile1783=) c.4242T>A (p.Ile1414=) c.8268T>A (p.Ile2756=) c.4020T>A (p.Ile1340=) c.7248T>A (p.Ile2416=) | |
| 8 | g.99818477T>C | CA462457419 | VPS13B | c.8463T>C (p.Ile2821=) n.8533T>C c.*4145T>C (n.*4145T>C) c.8388T>C (p.Ile2796=) c.8460T>C (p.Ile2820=) c.8385T>C (p.Ile2795=) c.8085T>C (p.Ile2695=) c.5349T>C (p.Ile1783=) c.4242T>C (p.Ile1414=) c.8268T>C (p.Ile2756=) c.4020T>C (p.Ile1340=) c.7248T>C (p.Ile2416=) | |
| 8 | g.99818477T>G | CA371773659 | VPS13B | c.8463T>G (p.Ile2821Met) n.8533T>G c.*4145T>G (n.*4145T>G) c.8388T>G (p.Ile2796Met) c.8460T>G (p.Ile2820Met) c.8385T>G (p.Ile2795Met) c.8085T>G (p.Ile2695Met) c.5349T>G (p.Ile1783Met) c.4242T>G (p.Ile1414Met) c.8268T>G (p.Ile2756Met) c.4020T>G (p.Ile1340Met) c.7248T>G (p.Ile2416Met) | |
| 8 | g.99818478T>A | CA371773661 | VPS13B | c.8464T>A (p.Tyr2822Asn) n.8534T>A c.*4146T>A (n.*4146T>A) c.8389T>A (p.Tyr2797Asn) c.8461T>A (p.Tyr2821Asn) c.8386T>A (p.Tyr2796Asn) c.8086T>A (p.Tyr2696Asn) c.5350T>A (p.Tyr1784Asn) c.4243T>A (p.Tyr1415Asn) c.8269T>A (p.Tyr2757Asn) c.4021T>A (p.Tyr1341Asn) c.7249T>A (p.Tyr2417Asn) | |
| 8 | g.99818478T>C | CA371773665 | VPS13B | c.8464T>C (p.Tyr2822His) n.8534T>C c.*4146T>C (n.*4146T>C) c.8389T>C (p.Tyr2797His) c.8461T>C (p.Tyr2821His) c.8386T>C (p.Tyr2796His) c.8086T>C (p.Tyr2696His) c.5350T>C (p.Tyr1784His) c.4243T>C (p.Tyr1415His) c.8269T>C (p.Tyr2757His) c.4021T>C (p.Tyr1341His) c.7249T>C (p.Tyr2417His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818478T>G | CA371773663 | VPS13B | c.8464T>G (p.Tyr2822Asp) n.8534T>G c.*4146T>G (n.*4146T>G) c.8389T>G (p.Tyr2797Asp) c.8461T>G (p.Tyr2821Asp) c.8386T>G (p.Tyr2796Asp) c.8086T>G (p.Tyr2696Asp) c.5350T>G (p.Tyr1784Asp) c.4243T>G (p.Tyr1415Asp) c.8269T>G (p.Tyr2757Asp) c.4021T>G (p.Tyr1341Asp) c.7249T>G (p.Tyr2417Asp) | |
| 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) |