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 |
|---|---|---|---|---|---|
| 5 | g.90706305G>A | CA360392053 | ADGRV1 | c.8641G>A (p.Glu2881Lys) c.265+30096G>A (n.265+30096G>A) n.4100G>A c.2448G>A n.1785G>A c.5932G>A (p.Glu1978Lys) c.3370G>A c.1338G>A n.8654G>A c.8638G>A (p.Glu2880Lys) c.8560G>A (p.Glu2854Lys) c.5944G>A (p.Glu1982Lys) c.8662G>A (p.Glu2888Lys) c.8659G>A (p.Glu2887Lys) c.8581G>A (p.Glu2861Lys) c.8566G>A (p.Glu2856Lys) c.1780G>A (p.Glu594Lys) c.1759G>A (p.Glu587Lys) n.8657G>A | |
| 5 | g.90706305G>C | CA360392054 | ADGRV1 | c.8641G>C (p.Glu2881Gln) c.265+30096G>C (n.265+30096G>C) n.4100G>C c.2448G>C n.1785G>C c.5932G>C (p.Glu1978Gln) c.3370G>C c.1338G>C n.8654G>C c.8638G>C (p.Glu2880Gln) c.8560G>C (p.Glu2854Gln) c.5944G>C (p.Glu1982Gln) c.8662G>C (p.Glu2888Gln) c.8659G>C (p.Glu2887Gln) c.8581G>C (p.Glu2861Gln) c.8566G>C (p.Glu2856Gln) c.1780G>C (p.Glu594Gln) c.1759G>C (p.Glu587Gln) n.8657G>C | |
| 5 | g.90706305G>T | CA360392056 | ADGRV1 | c.8641G>T (p.Glu2881Ter) c.265+30096G>T (n.265+30096G>T) n.4100G>T c.2448G>T n.1785G>T c.5932G>T (p.Glu1978Ter) c.3370G>T c.1338G>T n.8654G>T c.8638G>T (p.Glu2880Ter) c.8560G>T (p.Glu2854Ter) c.5944G>T (p.Glu1982Ter) c.8662G>T (p.Glu2888Ter) c.8659G>T (p.Glu2887Ter) c.8581G>T (p.Glu2861Ter) c.8566G>T (p.Glu2856Ter) c.1780G>T (p.Glu594Ter) c.1759G>T (p.Glu587Ter) n.8657G>T | |
| 5 | g.90706306A>C | CA360392059 | ADGRV1 | c.8642A>C (p.Glu2881Ala) c.265+30097A>C (n.265+30097A>C) n.4101A>C c.2449A>C n.1786A>C c.5933A>C (p.Glu1978Ala) c.3371A>C c.1339A>C n.8655A>C c.8639A>C (p.Glu2880Ala) c.8561A>C (p.Glu2854Ala) c.5945A>C (p.Glu1982Ala) c.8663A>C (p.Glu2888Ala) c.8660A>C (p.Glu2887Ala) c.8582A>C (p.Glu2861Ala) c.8567A>C (p.Glu2856Ala) c.1781A>C (p.Glu594Ala) c.1760A>C (p.Glu587Ala) n.8658A>C | |
| 5 | g.90706306A>G | CA360392060 | ADGRV1 | c.8642A>G (p.Glu2881Gly) c.265+30097A>G (n.265+30097A>G) n.4101A>G c.2449A>G n.1786A>G c.5933A>G (p.Glu1978Gly) c.3371A>G c.1339A>G n.8655A>G c.8639A>G (p.Glu2880Gly) c.8561A>G (p.Glu2854Gly) c.5945A>G (p.Glu1982Gly) c.8663A>G (p.Glu2888Gly) c.8660A>G (p.Glu2887Gly) c.8582A>G (p.Glu2861Gly) c.8567A>G (p.Glu2856Gly) c.1781A>G (p.Glu594Gly) c.1760A>G (p.Glu587Gly) n.8658A>G | gnomAD v4 |
| 5 | g.90706306A>T | CA360392062 | ADGRV1 | c.8642A>T (p.Glu2881Val) c.265+30097A>T (n.265+30097A>T) n.4101A>T c.2449A>T n.1786A>T c.5933A>T (p.Glu1978Val) c.3371A>T c.1339A>T n.8655A>T c.8639A>T (p.Glu2880Val) c.8561A>T (p.Glu2854Val) c.5945A>T (p.Glu1982Val) c.8663A>T (p.Glu2888Val) c.8660A>T (p.Glu2887Val) c.8582A>T (p.Glu2861Val) c.8567A>T (p.Glu2856Val) c.1781A>T (p.Glu594Val) c.1760A>T (p.Glu587Val) n.8658A>T | |
| 5 | g.90706307G>A | CA445408693 | ADGRV1 | c.8643G>A (p.Glu2881=) c.265+30098G>A (n.265+30098G>A) n.4102G>A c.2450G>A n.1787G>A c.5934G>A (p.Glu1978=) c.3372G>A c.1340G>A n.8656G>A c.8640G>A (p.Glu2880=) c.8562G>A (p.Glu2854=) c.5946G>A (p.Glu1982=) c.8664G>A (p.Glu2888=) c.8661G>A (p.Glu2887=) c.8583G>A (p.Glu2861=) c.8568G>A (p.Glu2856=) c.1782G>A (p.Glu594=) c.1761G>A (p.Glu587=) n.8659G>A | |
| 5 | g.90706307G>C | CA360392063 | ADGRV1 | c.8643G>C (p.Glu2881Asp) c.265+30098G>C (n.265+30098G>C) n.4102G>C c.2450G>C n.1787G>C c.5934G>C (p.Glu1978Asp) c.3372G>C c.1340G>C n.8656G>C c.8640G>C (p.Glu2880Asp) c.8562G>C (p.Glu2854Asp) c.5946G>C (p.Glu1982Asp) c.8664G>C (p.Glu2888Asp) c.8661G>C (p.Glu2887Asp) c.8583G>C (p.Glu2861Asp) c.8568G>C (p.Glu2856Asp) c.1782G>C (p.Glu594Asp) c.1761G>C (p.Glu587Asp) n.8659G>C | dbSNP |
| 5 | g.90706307G= | CA1562864963 | ADGRV1 | c.8643G= (p.Glu2881=) c.265+30098G= (n.265+30098G=) n.4102G= c.2450G= n.1787G= c.5934G= (p.Glu1978=) c.3372G= c.1340G= n.8656G= c.8640G= (p.Glu2880=) c.8562G= (p.Glu2854=) c.5946G= (p.Glu1982=) c.8664G= (p.Glu2888=) c.8661G= (p.Glu2887=) c.8583G= (p.Glu2861=) c.8568G= (p.Glu2856=) c.1782G= (p.Glu594=) c.1761G= (p.Glu587=) n.8659G= | |
| 5 | g.90706307G>T | CA360392065 | ADGRV1 | c.8643G>T (p.Glu2881Asp) c.265+30098G>T (n.265+30098G>T) n.4102G>T c.2450G>T n.1787G>T c.5934G>T (p.Glu1978Asp) c.3372G>T c.1340G>T n.8656G>T c.8640G>T (p.Glu2880Asp) c.8562G>T (p.Glu2854Asp) c.5946G>T (p.Glu1982Asp) c.8664G>T (p.Glu2888Asp) c.8661G>T (p.Glu2887Asp) c.8583G>T (p.Glu2861Asp) c.8568G>T (p.Glu2856Asp) c.1782G>T (p.Glu594Asp) c.1761G>T (p.Glu587Asp) n.8659G>T | |
| 5 | g.90706308C>A | CA360392068 | ADGRV1 | c.8644C>A (p.Pro2882Thr) c.265+30099C>A (n.265+30099C>A) n.4103C>A c.2451C>A n.1788C>A c.5935C>A (p.Pro1979Thr) c.3373C>A c.1341C>A n.8657C>A c.8641C>A (p.Pro2881Thr) c.8563C>A (p.Pro2855Thr) c.5947C>A (p.Pro1983Thr) c.8665C>A (p.Pro2889Thr) c.8662C>A (p.Pro2888Thr) c.8584C>A (p.Pro2862Thr) c.8569C>A (p.Pro2857Thr) c.1783C>A (p.Pro595Thr) c.1762C>A (p.Pro588Thr) n.8660C>A | |
| 5 | g.90706308C>G | CA360392070 | ADGRV1 | c.8644C>G (p.Pro2882Ala) c.265+30099C>G (n.265+30099C>G) n.4103C>G c.2451C>G n.1788C>G c.5935C>G (p.Pro1979Ala) c.3373C>G c.1341C>G n.8657C>G c.8641C>G (p.Pro2881Ala) c.8563C>G (p.Pro2855Ala) c.5947C>G (p.Pro1983Ala) c.8665C>G (p.Pro2889Ala) c.8662C>G (p.Pro2888Ala) c.8584C>G (p.Pro2862Ala) c.8569C>G (p.Pro2857Ala) c.1783C>G (p.Pro595Ala) c.1762C>G (p.Pro588Ala) n.8660C>G | |
| 5 | g.90706308C>T | CA360392072 | ADGRV1 | c.8644C>T (p.Pro2882Ser) c.265+30099C>T (n.265+30099C>T) n.4103C>T c.2451C>T n.1788C>T c.5935C>T (p.Pro1979Ser) c.3373C>T c.1341C>T n.8657C>T c.8641C>T (p.Pro2881Ser) c.8563C>T (p.Pro2855Ser) c.5947C>T (p.Pro1983Ser) c.8665C>T (p.Pro2889Ser) c.8662C>T (p.Pro2888Ser) c.8584C>T (p.Pro2862Ser) c.8569C>T (p.Pro2857Ser) c.1783C>T (p.Pro595Ser) c.1762C>T (p.Pro588Ser) n.8660C>T | |
| 5 | g.90706309C>A | CA360392075 | ADGRV1 | c.8645C>A (p.Pro2882Gln) c.265+30100C>A (n.265+30100C>A) n.4104C>A c.2452C>A n.1789C>A c.5936C>A (p.Pro1979Gln) c.3374C>A c.1342C>A n.8658C>A c.8642C>A (p.Pro2881Gln) c.8564C>A (p.Pro2855Gln) c.5948C>A (p.Pro1983Gln) c.8666C>A (p.Pro2889Gln) c.8663C>A (p.Pro2888Gln) c.8585C>A (p.Pro2862Gln) c.8570C>A (p.Pro2857Gln) c.1784C>A (p.Pro595Gln) c.1763C>A (p.Pro588Gln) n.8661C>A | |
| 5 | g.90706309C>G | CA360392077 | ADGRV1 | c.8645C>G (p.Pro2882Arg) c.265+30100C>G (n.265+30100C>G) n.4104C>G c.2452C>G n.1789C>G c.5936C>G (p.Pro1979Arg) c.3374C>G c.1342C>G n.8658C>G c.8642C>G (p.Pro2881Arg) c.8564C>G (p.Pro2855Arg) c.5948C>G (p.Pro1983Arg) c.8666C>G (p.Pro2889Arg) c.8663C>G (p.Pro2888Arg) c.8585C>G (p.Pro2862Arg) c.8570C>G (p.Pro2857Arg) c.1784C>G (p.Pro595Arg) c.1763C>G (p.Pro588Arg) n.8661C>G | |
| 5 | g.90706309C>T | CA360392073 | ADGRV1 | c.8645C>T (p.Pro2882Leu) c.265+30100C>T (n.265+30100C>T) n.4104C>T c.2452C>T n.1789C>T c.5936C>T (p.Pro1979Leu) c.3374C>T c.1342C>T n.8658C>T c.8642C>T (p.Pro2881Leu) c.8564C>T (p.Pro2855Leu) c.5948C>T (p.Pro1983Leu) c.8666C>T (p.Pro2889Leu) c.8663C>T (p.Pro2888Leu) c.8585C>T (p.Pro2862Leu) c.8570C>T (p.Pro2857Leu) c.1784C>T (p.Pro595Leu) c.1763C>T (p.Pro588Leu) n.8661C>T | |
| 5 | g.90706310A= | CA1562864964 | ADGRV1 | c.8646A= (p.Pro2882=) c.265+30101A= (n.265+30101A=) n.4105A= c.2453A= n.1790A= c.5937A= (p.Pro1979=) c.3375A= c.1343A= n.8659A= c.8643A= (p.Pro2881=) c.8565A= (p.Pro2855=) c.5949A= (p.Pro1983=) c.8667A= (p.Pro2889=) c.8664A= (p.Pro2888=) c.8586A= (p.Pro2862=) c.8571A= (p.Pro2857=) c.1785A= (p.Pro595=) c.1764A= (p.Pro588=) n.8662A= | |
| 5 | g.90706310A>C | CA445408696 | ADGRV1 | c.8646A>C (p.Pro2882=) c.265+30101A>C (n.265+30101A>C) n.4105A>C c.2453A>C n.1790A>C c.5937A>C (p.Pro1979=) c.3375A>C c.1343A>C n.8659A>C c.8643A>C (p.Pro2881=) c.8565A>C (p.Pro2855=) c.5949A>C (p.Pro1983=) c.8667A>C (p.Pro2889=) c.8664A>C (p.Pro2888=) c.8586A>C (p.Pro2862=) c.8571A>C (p.Pro2857=) c.1785A>C (p.Pro595=) c.1764A>C (p.Pro588=) n.8662A>C | ClinVar |
| 5 | g.90706310A>G | CA445408697 | ADGRV1 | c.8646A>G (p.Pro2882=) c.265+30101A>G (n.265+30101A>G) n.4105A>G c.2453A>G n.1790A>G c.5937A>G (p.Pro1979=) c.3375A>G c.1343A>G n.8659A>G c.8643A>G (p.Pro2881=) c.8565A>G (p.Pro2855=) c.5949A>G (p.Pro1983=) c.8667A>G (p.Pro2889=) c.8664A>G (p.Pro2888=) c.8586A>G (p.Pro2862=) c.8571A>G (p.Pro2857=) c.1785A>G (p.Pro595=) c.1764A>G (p.Pro588=) n.8662A>G | dbSNP gnomAD v4 |
| 5 | g.90706310A>T | CA445408698 | ADGRV1 | c.8646A>T (p.Pro2882=) c.265+30101A>T (n.265+30101A>T) n.4105A>T c.2453A>T n.1790A>T c.5937A>T (p.Pro1979=) c.3375A>T c.1343A>T n.8659A>T c.8643A>T (p.Pro2881=) c.8565A>T (p.Pro2855=) c.5949A>T (p.Pro1983=) c.8667A>T (p.Pro2889=) c.8664A>T (p.Pro2888=) c.8586A>T (p.Pro2862=) c.8571A>T (p.Pro2857=) c.1785A>T (p.Pro595=) c.1764A>T (p.Pro588=) n.8662A>T | |
| 5 | g.90706311G>A | CA360392079 | ADGRV1 | c.8647G>A (p.Glu2883Lys) c.265+30102G>A (n.265+30102G>A) n.4106G>A c.2454G>A n.1791G>A c.5938G>A (p.Glu1980Lys) c.3376G>A c.1344G>A n.8660G>A c.8644G>A (p.Glu2882Lys) c.8566G>A (p.Glu2856Lys) c.5950G>A (p.Glu1984Lys) c.8668G>A (p.Glu2890Lys) c.8665G>A (p.Glu2889Lys) c.8587G>A (p.Glu2863Lys) c.8572G>A (p.Glu2858Lys) c.1786G>A (p.Glu596Lys) c.1765G>A (p.Glu589Lys) n.8663G>A | |
| 5 | g.90706311G>C | CA360392081 | ADGRV1 | c.8647G>C (p.Glu2883Gln) c.265+30102G>C (n.265+30102G>C) n.4106G>C c.2454G>C n.1791G>C c.5938G>C (p.Glu1980Gln) c.3376G>C c.1344G>C n.8660G>C c.8644G>C (p.Glu2882Gln) c.8566G>C (p.Glu2856Gln) c.5950G>C (p.Glu1984Gln) c.8668G>C (p.Glu2890Gln) c.8665G>C (p.Glu2889Gln) c.8587G>C (p.Glu2863Gln) c.8572G>C (p.Glu2858Gln) c.1786G>C (p.Glu596Gln) c.1765G>C (p.Glu589Gln) n.8663G>C | |
| 5 | g.90706311G>T | CA360392083 | ADGRV1 | c.8647G>T (p.Glu2883Ter) c.265+30102G>T (n.265+30102G>T) n.4106G>T c.2454G>T n.1791G>T c.5938G>T (p.Glu1980Ter) c.3376G>T c.1344G>T n.8660G>T c.8644G>T (p.Glu2882Ter) c.8566G>T (p.Glu2856Ter) c.5950G>T (p.Glu1984Ter) c.8668G>T (p.Glu2890Ter) c.8665G>T (p.Glu2889Ter) c.8587G>T (p.Glu2863Ter) c.8572G>T (p.Glu2858Ter) c.1786G>T (p.Glu596Ter) c.1765G>T (p.Glu589Ter) n.8663G>T | |
| 5 | g.90706312A>C | CA360392085 | ADGRV1 | c.8648A>C (p.Glu2883Ala) c.265+30103A>C (n.265+30103A>C) n.4107A>C c.2455A>C n.1792A>C c.5939A>C (p.Glu1980Ala) c.3377A>C c.1345A>C n.8661A>C c.8645A>C (p.Glu2882Ala) c.8567A>C (p.Glu2856Ala) c.5951A>C (p.Glu1984Ala) c.8669A>C (p.Glu2890Ala) c.8666A>C (p.Glu2889Ala) c.8588A>C (p.Glu2863Ala) c.8573A>C (p.Glu2858Ala) c.1787A>C (p.Glu596Ala) c.1766A>C (p.Glu589Ala) n.8664A>C | gnomAD v4 |
| 5 | g.90706312A>G | CA360392086 | ADGRV1 | c.8648A>G (p.Glu2883Gly) c.265+30103A>G (n.265+30103A>G) n.4107A>G c.2455A>G n.1792A>G c.5939A>G (p.Glu1980Gly) c.3377A>G c.1345A>G n.8661A>G c.8645A>G (p.Glu2882Gly) c.8567A>G (p.Glu2856Gly) c.5951A>G (p.Glu1984Gly) c.8669A>G (p.Glu2890Gly) c.8666A>G (p.Glu2889Gly) c.8588A>G (p.Glu2863Gly) c.8573A>G (p.Glu2858Gly) c.1787A>G (p.Glu596Gly) c.1766A>G (p.Glu589Gly) n.8664A>G | |
| 5 | g.90706312A>T | CA360392088 | ADGRV1 | c.8648A>T (p.Glu2883Val) c.265+30103A>T (n.265+30103A>T) n.4107A>T c.2455A>T n.1792A>T c.5939A>T (p.Glu1980Val) c.3377A>T c.1345A>T n.8661A>T c.8645A>T (p.Glu2882Val) c.8567A>T (p.Glu2856Val) c.5951A>T (p.Glu1984Val) c.8669A>T (p.Glu2890Val) c.8666A>T (p.Glu2889Val) c.8588A>T (p.Glu2863Val) c.8573A>T (p.Glu2858Val) c.1787A>T (p.Glu596Val) c.1766A>T (p.Glu589Val) n.8664A>T | |
| 5 | g.90706313A= | CA1562864965 | ADGRV1 | c.8649A= (p.Glu2883=) c.265+30104A= (n.265+30104A=) n.4108A= c.2456A= n.1793A= c.5940A= (p.Glu1980=) c.3378A= c.1346A= n.8662A= c.8646A= (p.Glu2882=) c.8568A= (p.Glu2856=) c.5952A= (p.Glu1984=) c.8670A= (p.Glu2890=) c.8667A= (p.Glu2889=) c.8589A= (p.Glu2863=) c.8574A= (p.Glu2858=) c.1788A= (p.Glu596=) c.1767A= (p.Glu589=) n.8665A= | |
| 5 | g.90706313A>C | CA360392090 | ADGRV1 | c.8649A>C (p.Glu2883Asp) c.265+30104A>C (n.265+30104A>C) n.4108A>C c.2456A>C n.1793A>C c.5940A>C (p.Glu1980Asp) c.3378A>C c.1346A>C n.8662A>C c.8646A>C (p.Glu2882Asp) c.8568A>C (p.Glu2856Asp) c.5952A>C (p.Glu1984Asp) c.8670A>C (p.Glu2890Asp) c.8667A>C (p.Glu2889Asp) c.8589A>C (p.Glu2863Asp) c.8574A>C (p.Glu2858Asp) c.1788A>C (p.Glu596Asp) c.1767A>C (p.Glu589Asp) n.8665A>C | |
| 5 | g.90706313A>G | CA3340307 | ADGRV1 | c.8649A>G (p.Glu2883=) c.265+30104A>G (n.265+30104A>G) n.4108A>G c.2456A>G n.1793A>G c.5940A>G (p.Glu1980=) c.3378A>G c.1346A>G n.8662A>G c.8646A>G (p.Glu2882=) c.8568A>G (p.Glu2856=) c.5952A>G (p.Glu1984=) c.8670A>G (p.Glu2890=) c.8667A>G (p.Glu2889=) c.8589A>G (p.Glu2863=) c.8574A>G (p.Glu2858=) c.1788A>G (p.Glu596=) c.1767A>G (p.Glu589=) n.8665A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90706313A>T | CA360392091 | ADGRV1 | c.8649A>T (p.Glu2883Asp) c.265+30104A>T (n.265+30104A>T) n.4108A>T c.2456A>T n.1793A>T c.5940A>T (p.Glu1980Asp) c.3378A>T c.1346A>T n.8662A>T c.8646A>T (p.Glu2882Asp) c.8568A>T (p.Glu2856Asp) c.5952A>T (p.Glu1984Asp) c.8670A>T (p.Glu2890Asp) c.8667A>T (p.Glu2889Asp) c.8589A>T (p.Glu2863Asp) c.8574A>T (p.Glu2858Asp) c.1788A>T (p.Glu596Asp) c.1767A>T (p.Glu589Asp) n.8665A>T | |
| 5 | g.90706314G>A | CA360392093 | ADGRV1 | c.8650G>A (p.Val2884Ile) c.265+30105G>A (n.265+30105G>A) n.4109G>A c.2457G>A n.1794G>A c.5941G>A (p.Val1981Ile) c.3379G>A c.1347G>A n.8663G>A c.8647G>A (p.Val2883Ile) c.8569G>A (p.Val2857Ile) c.5953G>A (p.Val1985Ile) c.8671G>A (p.Val2891Ile) c.8668G>A (p.Val2890Ile) c.8590G>A (p.Val2864Ile) c.8575G>A (p.Val2859Ile) c.1789G>A (p.Val597Ile) c.1768G>A (p.Val590Ile) n.8666G>A | gnomAD v4 |
| 5 | g.90706314G>C | CA360392094 | ADGRV1 | c.8650G>C (p.Val2884Leu) c.265+30105G>C (n.265+30105G>C) n.4109G>C c.2457G>C n.1794G>C c.5941G>C (p.Val1981Leu) c.3379G>C c.1347G>C n.8663G>C c.8647G>C (p.Val2883Leu) c.8569G>C (p.Val2857Leu) c.5953G>C (p.Val1985Leu) c.8671G>C (p.Val2891Leu) c.8668G>C (p.Val2890Leu) c.8590G>C (p.Val2864Leu) c.8575G>C (p.Val2859Leu) c.1789G>C (p.Val597Leu) c.1768G>C (p.Val590Leu) n.8666G>C | |
| 5 | g.90706314G>T | CA360392097 | ADGRV1 | c.8650G>T (p.Val2884Phe) c.265+30105G>T (n.265+30105G>T) n.4109G>T c.2457G>T n.1794G>T c.5941G>T (p.Val1981Phe) c.3379G>T c.1347G>T n.8663G>T c.8647G>T (p.Val2883Phe) c.8569G>T (p.Val2857Phe) c.5953G>T (p.Val1985Phe) c.8671G>T (p.Val2891Phe) c.8668G>T (p.Val2890Phe) c.8590G>T (p.Val2864Phe) c.8575G>T (p.Val2859Phe) c.1789G>T (p.Val597Phe) c.1768G>T (p.Val590Phe) n.8666G>T | |
| 5 | g.90706315T>A | CA360392101 | ADGRV1 | c.8651T>A (p.Val2884Asp) c.265+30106T>A (n.265+30106T>A) n.4110T>A c.2458T>A n.1795T>A c.5942T>A (p.Val1981Asp) c.3380T>A c.1348T>A n.8664T>A c.8648T>A (p.Val2883Asp) c.8570T>A (p.Val2857Asp) c.5954T>A (p.Val1985Asp) c.8672T>A (p.Val2891Asp) c.8669T>A (p.Val2890Asp) c.8591T>A (p.Val2864Asp) c.8576T>A (p.Val2859Asp) c.1790T>A (p.Val597Asp) c.1769T>A (p.Val590Asp) n.8667T>A | |
| 5 | g.90706315T>C | CA138253 | ADGRV1 | c.8651T>C (p.Val2884Ala) c.265+30106T>C (n.265+30106T>C) n.4110T>C c.2458T>C n.1795T>C c.5942T>C (p.Val1981Ala) c.3380T>C c.1348T>C n.8664T>C c.8648T>C (p.Val2883Ala) c.8570T>C (p.Val2857Ala) c.5954T>C (p.Val1985Ala) c.8672T>C (p.Val2891Ala) c.8669T>C (p.Val2890Ala) c.8591T>C (p.Val2864Ala) c.8576T>C (p.Val2859Ala) c.1790T>C (p.Val597Ala) c.1769T>C (p.Val590Ala) n.8667T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90706315T>G | CA360392100 | ADGRV1 | c.8651T>G (p.Val2884Gly) c.265+30106T>G (n.265+30106T>G) n.4110T>G c.2458T>G n.1795T>G c.5942T>G (p.Val1981Gly) c.3380T>G c.1348T>G n.8664T>G c.8648T>G (p.Val2883Gly) c.8570T>G (p.Val2857Gly) c.5954T>G (p.Val1985Gly) c.8672T>G (p.Val2891Gly) c.8669T>G (p.Val2890Gly) c.8591T>G (p.Val2864Gly) c.8576T>G (p.Val2859Gly) c.1790T>G (p.Val597Gly) c.1769T>G (p.Val590Gly) n.8667T>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.90706315T= | CA1562864966 | ADGRV1 | c.8651T= (p.Val2884=) c.265+30106T= (n.265+30106T=) n.4110T= c.2458T= n.1795T= c.5942T= (p.Val1981=) c.3380T= c.1348T= n.8664T= c.8648T= (p.Val2883=) c.8570T= (p.Val2857=) c.5954T= (p.Val1985=) c.8672T= (p.Val2891=) c.8669T= (p.Val2890=) c.8591T= (p.Val2864=) c.8576T= (p.Val2859=) c.1790T= (p.Val597=) c.1769T= (p.Val590=) n.8667T= | |
| 5 | g.90706316T>A | CA445408707 | ADGRV1 | c.8652T>A (p.Val2884=) c.265+30107T>A (n.265+30107T>A) n.4111T>A c.2459T>A n.1796T>A c.5943T>A (p.Val1981=) c.3381T>A c.1349T>A n.8665T>A c.8649T>A (p.Val2883=) c.8571T>A (p.Val2857=) c.5955T>A (p.Val1985=) c.8673T>A (p.Val2891=) c.8670T>A (p.Val2890=) c.8592T>A (p.Val2864=) c.8577T>A (p.Val2859=) c.1791T>A (p.Val597=) c.1770T>A (p.Val590=) n.8668T>A | |
| 5 | g.90706316T>C | CA445408706 | ADGRV1 | c.8652T>C (p.Val2884=) c.265+30107T>C (n.265+30107T>C) n.4111T>C c.2459T>C n.1796T>C c.5943T>C (p.Val1981=) c.3381T>C c.1349T>C n.8665T>C c.8649T>C (p.Val2883=) c.8571T>C (p.Val2857=) c.5955T>C (p.Val1985=) c.8673T>C (p.Val2891=) c.8670T>C (p.Val2890=) c.8592T>C (p.Val2864=) c.8577T>C (p.Val2859=) c.1791T>C (p.Val597=) c.1770T>C (p.Val590=) n.8668T>C | |
| 5 | g.90706316T>G | CA445408705 | ADGRV1 | c.8652T>G (p.Val2884=) c.265+30107T>G (n.265+30107T>G) n.4111T>G c.2459T>G n.1796T>G c.5943T>G (p.Val1981=) c.3381T>G c.1349T>G n.8665T>G c.8649T>G (p.Val2883=) c.8571T>G (p.Val2857=) c.5955T>G (p.Val1985=) c.8673T>G (p.Val2891=) c.8670T>G (p.Val2890=) c.8592T>G (p.Val2864=) c.8577T>G (p.Val2859=) c.1791T>G (p.Val597=) c.1770T>G (p.Val590=) n.8668T>G | gnomAD v4 |
| 5 | g.90706317G>A | CA360392104 | ADGRV1 | c.8653G>A (p.Asp2885Asn) c.265+30108G>A (n.265+30108G>A) n.4112G>A c.2460G>A n.1797G>A c.5944G>A (p.Asp1982Asn) c.3382G>A c.1350G>A n.8666G>A c.8650G>A (p.Asp2884Asn) c.8572G>A (p.Asp2858Asn) c.5956G>A (p.Asp1986Asn) c.8674G>A (p.Asp2892Asn) c.8671G>A (p.Asp2891Asn) c.8593G>A (p.Asp2865Asn) c.8578G>A (p.Asp2860Asn) c.1792G>A (p.Asp598Asn) c.1771G>A (p.Asp591Asn) n.8669G>A | |
| 5 | g.90706317G>C | CA360392106 | ADGRV1 | c.8653G>C (p.Asp2885His) c.265+30108G>C (n.265+30108G>C) n.4112G>C c.2460G>C n.1797G>C c.5944G>C (p.Asp1982His) c.3382G>C c.1350G>C n.8666G>C c.8650G>C (p.Asp2884His) c.8572G>C (p.Asp2858His) c.5956G>C (p.Asp1986His) c.8674G>C (p.Asp2892His) c.8671G>C (p.Asp2891His) c.8593G>C (p.Asp2865His) c.8578G>C (p.Asp2860His) c.1792G>C (p.Asp598His) c.1771G>C (p.Asp591His) n.8669G>C | |
| 5 | g.90706317G>T | CA360392108 | ADGRV1 | c.8653G>T (p.Asp2885Tyr) c.265+30108G>T (n.265+30108G>T) n.4112G>T c.2460G>T n.1797G>T c.5944G>T (p.Asp1982Tyr) c.3382G>T c.1350G>T n.8666G>T c.8650G>T (p.Asp2884Tyr) c.8572G>T (p.Asp2858Tyr) c.5956G>T (p.Asp1986Tyr) c.8674G>T (p.Asp2892Tyr) c.8671G>T (p.Asp2891Tyr) c.8593G>T (p.Asp2865Tyr) c.8578G>T (p.Asp2860Tyr) c.1792G>T (p.Asp598Tyr) c.1771G>T (p.Asp591Tyr) n.8669G>T | |
| 5 | g.90706318A>C | CA360392110 | ADGRV1 | c.8654A>C (p.Asp2885Ala) c.265+30109A>C (n.265+30109A>C) n.4113A>C c.2461A>C n.1798A>C c.5945A>C (p.Asp1982Ala) c.3383A>C c.1351A>C n.8667A>C c.8651A>C (p.Asp2884Ala) c.8573A>C (p.Asp2858Ala) c.5957A>C (p.Asp1986Ala) c.8675A>C (p.Asp2892Ala) c.8672A>C (p.Asp2891Ala) c.8594A>C (p.Asp2865Ala) c.8579A>C (p.Asp2860Ala) c.1793A>C (p.Asp598Ala) c.1772A>C (p.Asp591Ala) n.8670A>C | |
| 5 | g.90706318A>G | CA360392112 | ADGRV1 | c.8654A>G (p.Asp2885Gly) c.265+30109A>G (n.265+30109A>G) n.4113A>G c.2461A>G n.1798A>G c.5945A>G (p.Asp1982Gly) c.3383A>G c.1351A>G n.8667A>G c.8651A>G (p.Asp2884Gly) c.8573A>G (p.Asp2858Gly) c.5957A>G (p.Asp1986Gly) c.8675A>G (p.Asp2892Gly) c.8672A>G (p.Asp2891Gly) c.8594A>G (p.Asp2865Gly) c.8579A>G (p.Asp2860Gly) c.1793A>G (p.Asp598Gly) c.1772A>G (p.Asp591Gly) n.8670A>G | |
| 5 | g.90706318A>T | CA360392114 | ADGRV1 | c.8654A>T (p.Asp2885Val) c.265+30109A>T (n.265+30109A>T) n.4113A>T c.2461A>T n.1798A>T c.5945A>T (p.Asp1982Val) c.3383A>T c.1351A>T n.8667A>T c.8651A>T (p.Asp2884Val) c.8573A>T (p.Asp2858Val) c.5957A>T (p.Asp1986Val) c.8675A>T (p.Asp2892Val) c.8672A>T (p.Asp2891Val) c.8594A>T (p.Asp2865Val) c.8579A>T (p.Asp2860Val) c.1793A>T (p.Asp598Val) c.1772A>T (p.Asp591Val) n.8670A>T | |
| 5 | g.90706319T>A | CA360392116 | ADGRV1 | c.8655T>A (p.Asp2885Glu) c.265+30110T>A (n.265+30110T>A) n.4114T>A c.2462T>A n.1799T>A c.5946T>A (p.Asp1982Glu) c.3384T>A c.1352T>A n.8668T>A c.8652T>A (p.Asp2884Glu) c.8574T>A (p.Asp2858Glu) c.5958T>A (p.Asp1986Glu) c.8676T>A (p.Asp2892Glu) c.8673T>A (p.Asp2891Glu) c.8595T>A (p.Asp2865Glu) c.8580T>A (p.Asp2860Glu) c.1794T>A (p.Asp598Glu) c.1773T>A (p.Asp591Glu) n.8671T>A | |
| 5 | g.90706319T>C | CA445408708 | ADGRV1 | c.8655T>C (p.Asp2885=) c.265+30110T>C (n.265+30110T>C) n.4114T>C c.2462T>C n.1799T>C c.5946T>C (p.Asp1982=) c.3384T>C c.1352T>C n.8668T>C c.8652T>C (p.Asp2884=) c.8574T>C (p.Asp2858=) c.5958T>C (p.Asp1986=) c.8676T>C (p.Asp2892=) c.8673T>C (p.Asp2891=) c.8595T>C (p.Asp2865=) c.8580T>C (p.Asp2860=) c.1794T>C (p.Asp598=) c.1773T>C (p.Asp591=) n.8671T>C | |
| 5 | g.90706319T>G | CA360392118 | ADGRV1 | c.8655T>G (p.Asp2885Glu) c.265+30110T>G (n.265+30110T>G) n.4114T>G c.2462T>G n.1799T>G c.5946T>G (p.Asp1982Glu) c.3384T>G c.1352T>G n.8668T>G c.8652T>G (p.Asp2884Glu) c.8574T>G (p.Asp2858Glu) c.5958T>G (p.Asp1986Glu) c.8676T>G (p.Asp2892Glu) c.8673T>G (p.Asp2891Glu) c.8595T>G (p.Asp2865Glu) c.8580T>G (p.Asp2860Glu) c.1794T>G (p.Asp598Glu) c.1773T>G (p.Asp591Glu) n.8671T>G | |
| 5 | g.90706320T>A | CA360392120 | ADGRV1 | c.8656T>A (p.Phe2886Ile) c.265+30111T>A (n.265+30111T>A) n.4115T>A c.2463T>A n.1800T>A c.5947T>A (p.Phe1983Ile) c.3385T>A c.1353T>A n.8669T>A c.8653T>A (p.Phe2885Ile) c.8575T>A (p.Phe2859Ile) c.5959T>A (p.Phe1987Ile) c.8677T>A (p.Phe2893Ile) c.8674T>A (p.Phe2892Ile) c.8596T>A (p.Phe2866Ile) c.8581T>A (p.Phe2861Ile) c.1795T>A (p.Phe599Ile) c.1774T>A (p.Phe592Ile) n.8672T>A |