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.90692637_90692638del | CA2695204639 | ADGRV1 | c.6984_6985del (p.Gly2329ArgfsTer17) c.265+16428_265+16429del (n.265+16428_265+16429del) n.2443_2444del c.791_792del n.128_129del c.4275_4276del (p.Gly1426ArgfsTer17) c.1713_1714del n.6997_6998del c.6981_6982del (p.Gly2328ArgfsTer17) c.6903_6904del (p.Gly2302ArgfsTer17) c.4287_4288del (p.Gly1430ArgfsTer17) c.6888_6889del (p.Gly2297ArgfsTer17) c.102_103del (p.Gly35ArgfsTer17) n.7000_7001del | |
| 5 | g.90692638G>A | CA360370860 | ADGRV1 | c.6985G>A (p.Gly2329Arg) c.265+16429G>A (n.265+16429G>A) n.2444G>A c.792G>A n.129G>A c.4276G>A (p.Gly1426Arg) c.1714G>A n.6998G>A c.6982G>A (p.Gly2328Arg) c.6904G>A (p.Gly2302Arg) c.4288G>A (p.Gly1430Arg) c.6889G>A (p.Gly2297Arg) c.103G>A (p.Gly35Arg) n.7001G>A | gnomAD v4 |
| 5 | g.90692638G>C | CA360370863 | ADGRV1 | c.6985G>C (p.Gly2329Arg) c.265+16429G>C (n.265+16429G>C) n.2444G>C c.792G>C n.129G>C c.4276G>C (p.Gly1426Arg) c.1714G>C n.6998G>C c.6982G>C (p.Gly2328Arg) c.6904G>C (p.Gly2302Arg) c.4288G>C (p.Gly1430Arg) c.6889G>C (p.Gly2297Arg) c.103G>C (p.Gly35Arg) n.7001G>C | |
| 5 | g.90692638G>T | CA360370866 | ADGRV1 | c.6985G>T (p.Gly2329Ter) c.265+16429G>T (n.265+16429G>T) n.2444G>T c.792G>T n.129G>T c.4276G>T (p.Gly1426Ter) c.1714G>T n.6998G>T c.6982G>T (p.Gly2328Ter) c.6904G>T (p.Gly2302Ter) c.4288G>T (p.Gly1430Ter) c.6889G>T (p.Gly2297Ter) c.103G>T (p.Gly35Ter) n.7001G>T | |
| 5 | g.90692639G>A | CA360370868 | ADGRV1 | c.6986G>A (p.Gly2329Glu) c.265+16430G>A (n.265+16430G>A) n.2445G>A c.793G>A n.130G>A c.4277G>A (p.Gly1426Glu) c.1715G>A n.6999G>A c.6983G>A (p.Gly2328Glu) c.6905G>A (p.Gly2302Glu) c.4289G>A (p.Gly1430Glu) c.6890G>A (p.Gly2297Glu) c.104G>A (p.Gly35Glu) n.7002G>A | |
| 5 | g.90692639G>C | CA360370869 | ADGRV1 | c.6986G>C (p.Gly2329Ala) c.265+16430G>C (n.265+16430G>C) n.2445G>C c.793G>C n.130G>C c.4277G>C (p.Gly1426Ala) c.1715G>C n.6999G>C c.6983G>C (p.Gly2328Ala) c.6905G>C (p.Gly2302Ala) c.4289G>C (p.Gly1430Ala) c.6890G>C (p.Gly2297Ala) c.104G>C (p.Gly35Ala) n.7002G>C | |
| 5 | g.90692639G>T | CA360370872 | ADGRV1 | c.6986G>T (p.Gly2329Val) c.265+16430G>T (n.265+16430G>T) n.2445G>T c.793G>T n.130G>T c.4277G>T (p.Gly1426Val) c.1715G>T n.6999G>T c.6983G>T (p.Gly2328Val) c.6905G>T (p.Gly2302Val) c.4289G>T (p.Gly1430Val) c.6890G>T (p.Gly2297Val) c.104G>T (p.Gly35Val) n.7002G>T | |
| 5 | g.90692640A= | CA1562859259 | ADGRV1 | c.6987A= (p.Gly2329=) c.265+16431A= (n.265+16431A=) n.2446A= c.794A= n.131A= c.4278A= (p.Gly1426=) c.1716A= n.7000A= c.6984A= (p.Gly2328=) c.6906A= (p.Gly2302=) c.4290A= (p.Gly1430=) c.6891A= (p.Gly2297=) c.105A= (p.Gly35=) n.7003A= | |
| 5 | g.90692640A>C | CA445404478 | ADGRV1 | c.6987A>C (p.Gly2329=) c.265+16431A>C (n.265+16431A>C) n.2446A>C c.794A>C n.131A>C c.4278A>C (p.Gly1426=) c.1716A>C n.7000A>C c.6984A>C (p.Gly2328=) c.6906A>C (p.Gly2302=) c.4290A>C (p.Gly1430=) c.6891A>C (p.Gly2297=) c.105A>C (p.Gly35=) n.7003A>C | |
| 5 | g.90692640A>G | CA3339945 | ADGRV1 | c.6987A>G (p.Gly2329=) c.265+16431A>G (n.265+16431A>G) n.2446A>G c.794A>G n.131A>G c.4278A>G (p.Gly1426=) c.1716A>G n.7000A>G c.6984A>G (p.Gly2328=) c.6906A>G (p.Gly2302=) c.4290A>G (p.Gly1430=) c.6891A>G (p.Gly2297=) c.105A>G (p.Gly35=) n.7003A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90692640A>T | CA445404479 | ADGRV1 | c.6987A>T (p.Gly2329=) c.265+16431A>T (n.265+16431A>T) n.2446A>T c.794A>T n.131A>T c.4278A>T (p.Gly1426=) c.1716A>T n.7000A>T c.6984A>T (p.Gly2328=) c.6906A>T (p.Gly2302=) c.4290A>T (p.Gly1430=) c.6891A>T (p.Gly2297=) c.105A>T (p.Gly35=) n.7003A>T | |
| 5 | g.90692641G>A | CA360370885 | ADGRV1 | c.6988G>A (p.Gly2330Ser) c.265+16432G>A (n.265+16432G>A) n.2447G>A c.795G>A n.132G>A c.4279G>A (p.Gly1427Ser) c.1717G>A n.7001G>A c.6985G>A (p.Gly2329Ser) c.6907G>A (p.Gly2303Ser) c.4291G>A (p.Gly1431Ser) c.6892G>A (p.Gly2298Ser) c.106G>A (p.Gly36Ser) n.7004G>A | dbSNP gnomAD v4 |
| 5 | g.90692641G>C | CA360370888 | ADGRV1 | c.6988G>C (p.Gly2330Arg) c.265+16432G>C (n.265+16432G>C) n.2447G>C c.795G>C n.132G>C c.4279G>C (p.Gly1427Arg) c.1717G>C n.7001G>C c.6985G>C (p.Gly2329Arg) c.6907G>C (p.Gly2303Arg) c.4291G>C (p.Gly1431Arg) c.6892G>C (p.Gly2298Arg) c.106G>C (p.Gly36Arg) n.7004G>C | |
| 5 | g.90692641G= | CA1562859260 | ADGRV1 | c.6988G= (p.Gly2330=) c.265+16432G= (n.265+16432G=) n.2447G= c.795G= n.132G= c.4279G= (p.Gly1427=) c.1717G= n.7001G= c.6985G= (p.Gly2329=) c.6907G= (p.Gly2303=) c.4291G= (p.Gly1431=) c.6892G= (p.Gly2298=) c.106G= (p.Gly36=) n.7004G= | |
| 5 | g.90692641G>T | CA360370901 | ADGRV1 | c.6988G>T (p.Gly2330Cys) c.265+16432G>T (n.265+16432G>T) n.2447G>T c.795G>T n.132G>T c.4279G>T (p.Gly1427Cys) c.1717G>T n.7001G>T c.6985G>T (p.Gly2329Cys) c.6907G>T (p.Gly2303Cys) c.4291G>T (p.Gly1431Cys) c.6892G>T (p.Gly2298Cys) c.106G>T (p.Gly36Cys) n.7004G>T | |
| 5 | g.90692642G>A | CA3339946 | ADGRV1 | c.6989G>A (p.Gly2330Asp) c.265+16433G>A (n.265+16433G>A) n.2448G>A c.796G>A n.133G>A c.4280G>A (p.Gly1427Asp) c.1718G>A n.7002G>A c.6986G>A (p.Gly2329Asp) c.6908G>A (p.Gly2303Asp) c.4292G>A (p.Gly1431Asp) c.6893G>A (p.Gly2298Asp) c.107G>A (p.Gly36Asp) n.7005G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90692642G>C | CA360370919 | ADGRV1 | c.6989G>C (p.Gly2330Ala) c.265+16433G>C (n.265+16433G>C) n.2448G>C c.796G>C n.133G>C c.4280G>C (p.Gly1427Ala) c.1718G>C n.7002G>C c.6986G>C (p.Gly2329Ala) c.6908G>C (p.Gly2303Ala) c.4292G>C (p.Gly1431Ala) c.6893G>C (p.Gly2298Ala) c.107G>C (p.Gly36Ala) n.7005G>C | |
| 5 | g.90692642G= | CA1562859261 | ADGRV1 | c.6989G= (p.Gly2330=) c.265+16433G= (n.265+16433G=) n.2448G= c.796G= n.133G= c.4280G= (p.Gly1427=) c.1718G= n.7002G= c.6986G= (p.Gly2329=) c.6908G= (p.Gly2303=) c.4292G= (p.Gly1431=) c.6893G= (p.Gly2298=) c.107G= (p.Gly36=) n.7005G= | |
| 5 | g.90692642G>T | CA360370916 | ADGRV1 | c.6989G>T (p.Gly2330Val) c.265+16433G>T (n.265+16433G>T) n.2448G>T c.796G>T n.133G>T c.4280G>T (p.Gly1427Val) c.1718G>T n.7002G>T c.6986G>T (p.Gly2329Val) c.6908G>T (p.Gly2303Val) c.4292G>T (p.Gly1431Val) c.6893G>T (p.Gly2298Val) c.107G>T (p.Gly36Val) n.7005G>T | gnomAD v4 |
| 5 | g.90692643T>A | CA445404482 | ADGRV1 | c.6990T>A (p.Gly2330=) c.265+16434T>A (n.265+16434T>A) n.2449T>A c.797T>A n.134T>A c.4281T>A (p.Gly1427=) c.1719T>A n.7003T>A c.6987T>A (p.Gly2329=) c.6909T>A (p.Gly2303=) c.4293T>A (p.Gly1431=) c.6894T>A (p.Gly2298=) c.108T>A (p.Gly36=) n.7006T>A | |
| 5 | g.90692643T>C | CA445404481 | ADGRV1 | c.6990T>C (p.Gly2330=) c.265+16434T>C (n.265+16434T>C) n.2449T>C c.797T>C n.134T>C c.4281T>C (p.Gly1427=) c.1719T>C n.7003T>C c.6987T>C (p.Gly2329=) c.6909T>C (p.Gly2303=) c.4293T>C (p.Gly1431=) c.6894T>C (p.Gly2298=) c.108T>C (p.Gly36=) n.7006T>C | |
| 5 | g.90692643T>G | CA445404480 | ADGRV1 | c.6990T>G (p.Gly2330=) c.265+16434T>G (n.265+16434T>G) n.2449T>G c.797T>G n.134T>G c.4281T>G (p.Gly1427=) c.1719T>G n.7003T>G c.6987T>G (p.Gly2329=) c.6909T>G (p.Gly2303=) c.4293T>G (p.Gly1431=) c.6894T>G (p.Gly2298=) c.108T>G (p.Gly36=) n.7006T>G | |
| 5 | g.90692644A= | CA1562859262 | ADGRV1 | c.6991A= (p.Thr2331=) c.265+16435A= (n.265+16435A=) n.2450A= c.798A= n.135A= c.4282A= (p.Thr1428=) c.1720A= n.7004A= c.6988A= (p.Thr2330=) c.6910A= (p.Thr2304=) c.4294A= (p.Thr1432=) c.6895A= (p.Thr2299=) c.109A= (p.Thr37=) n.7007A= | |
| 5 | g.90692644A>C | CA360370927 | ADGRV1 | c.6991A>C (p.Thr2331Pro) c.265+16435A>C (n.265+16435A>C) n.2450A>C c.798A>C n.135A>C c.4282A>C (p.Thr1428Pro) c.1720A>C n.7004A>C c.6988A>C (p.Thr2330Pro) c.6910A>C (p.Thr2304Pro) c.4294A>C (p.Thr1432Pro) c.6895A>C (p.Thr2299Pro) c.109A>C (p.Thr37Pro) n.7007A>C | |
| 5 | g.90692644A>G | CA360370929 | ADGRV1 | c.6991A>G (p.Thr2331Ala) c.265+16435A>G (n.265+16435A>G) n.2450A>G c.798A>G n.135A>G c.4282A>G (p.Thr1428Ala) c.1720A>G n.7004A>G c.6988A>G (p.Thr2330Ala) c.6910A>G (p.Thr2304Ala) c.4294A>G (p.Thr1432Ala) c.6895A>G (p.Thr2299Ala) c.109A>G (p.Thr37Ala) n.7007A>G | dbSNP |
| 5 | g.90692644A>T | CA360370931 | ADGRV1 | c.6991A>T (p.Thr2331Ser) c.265+16435A>T (n.265+16435A>T) n.2450A>T c.798A>T n.135A>T c.4282A>T (p.Thr1428Ser) c.1720A>T n.7004A>T c.6988A>T (p.Thr2330Ser) c.6910A>T (p.Thr2304Ser) c.4294A>T (p.Thr1432Ser) c.6895A>T (p.Thr2299Ser) c.109A>T (p.Thr37Ser) n.7007A>T | |
| 5 | g.90692645C>A | CA360370938 | ADGRV1 | c.6992C>A (p.Thr2331Asn) c.265+16436C>A (n.265+16436C>A) n.2451C>A c.799C>A n.136C>A c.4283C>A (p.Thr1428Asn) c.1721C>A n.7005C>A c.6989C>A (p.Thr2330Asn) c.6911C>A (p.Thr2304Asn) c.4295C>A (p.Thr1432Asn) c.6896C>A (p.Thr2299Asn) c.110C>A (p.Thr37Asn) n.7008C>A | |
| 5 | g.90692645C= | CA1562859263 | ADGRV1 | c.6992C= (p.Thr2331=) c.265+16436C= (n.265+16436C=) n.2451C= c.799C= n.136C= c.4283C= (p.Thr1428=) c.1721C= n.7005C= c.6989C= (p.Thr2330=) c.6911C= (p.Thr2304=) c.4295C= (p.Thr1432=) c.6896C= (p.Thr2299=) c.110C= (p.Thr37=) n.7008C= | |
| 5 | g.90692645C>G | CA360370939 | ADGRV1 | c.6992C>G (p.Thr2331Ser) c.265+16436C>G (n.265+16436C>G) n.2451C>G c.799C>G n.136C>G c.4283C>G (p.Thr1428Ser) c.1721C>G n.7005C>G c.6989C>G (p.Thr2330Ser) c.6911C>G (p.Thr2304Ser) c.4295C>G (p.Thr1432Ser) c.6896C>G (p.Thr2299Ser) c.110C>G (p.Thr37Ser) n.7008C>G | |
| 5 | g.90692645C>T | CA360370942 | ADGRV1 | c.6992C>T (p.Thr2331Ile) c.265+16436C>T (n.265+16436C>T) n.2451C>T c.799C>T n.136C>T c.4283C>T (p.Thr1428Ile) c.1721C>T n.7005C>T c.6989C>T (p.Thr2330Ile) c.6911C>T (p.Thr2304Ile) c.4295C>T (p.Thr1432Ile) c.6896C>T (p.Thr2299Ile) c.110C>T (p.Thr37Ile) n.7008C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90692646T>A | CA445404483 | ADGRV1 | c.6993T>A (p.Thr2331=) c.265+16437T>A (n.265+16437T>A) n.2452T>A c.800T>A n.137T>A c.4284T>A (p.Thr1428=) c.1722T>A n.7006T>A c.6990T>A (p.Thr2330=) c.6912T>A (p.Thr2304=) c.4296T>A (p.Thr1432=) c.6897T>A (p.Thr2299=) c.111T>A (p.Thr37=) n.7009T>A | |
| 5 | g.90692646T>C | CA445404484 | ADGRV1 | c.6993T>C (p.Thr2331=) c.265+16437T>C (n.265+16437T>C) n.2452T>C c.800T>C n.137T>C c.4284T>C (p.Thr1428=) c.1722T>C n.7006T>C c.6990T>C (p.Thr2330=) c.6912T>C (p.Thr2304=) c.4296T>C (p.Thr1432=) c.6897T>C (p.Thr2299=) c.111T>C (p.Thr37=) n.7009T>C | gnomAD v4 |
| 5 | g.90692646T>G | CA445404485 | ADGRV1 | c.6993T>G (p.Thr2331=) c.265+16437T>G (n.265+16437T>G) n.2452T>G c.800T>G n.137T>G c.4284T>G (p.Thr1428=) c.1722T>G n.7006T>G c.6990T>G (p.Thr2330=) c.6912T>G (p.Thr2304=) c.4296T>G (p.Thr1432=) c.6897T>G (p.Thr2299=) c.111T>G (p.Thr37=) n.7009T>G | |
| 5 | g.90692647A= | CA1562859264 | ADGRV1 | c.6994A= (p.Ile2332=) c.265+16438A= (n.265+16438A=) n.2453A= c.801A= n.138A= c.4285A= (p.Ile1429=) c.1723A= n.7007A= c.6991A= (p.Ile2331=) c.6913A= (p.Ile2305=) c.4297A= (p.Ile1433=) c.6898A= (p.Ile2300=) c.112A= (p.Ile38=) n.7010A= | |
| 5 | g.90692647A>C | CA360370946 | ADGRV1 | c.6994A>C (p.Ile2332Leu) c.265+16438A>C (n.265+16438A>C) n.2453A>C c.801A>C n.138A>C c.4285A>C (p.Ile1429Leu) c.1723A>C n.7007A>C c.6991A>C (p.Ile2331Leu) c.6913A>C (p.Ile2305Leu) c.4297A>C (p.Ile1433Leu) c.6898A>C (p.Ile2300Leu) c.112A>C (p.Ile38Leu) n.7010A>C | |
| 5 | g.90692647A>G | CA360370947 | ADGRV1 | c.6994A>G (p.Ile2332Val) c.265+16438A>G (n.265+16438A>G) n.2453A>G c.801A>G n.138A>G c.4285A>G (p.Ile1429Val) c.1723A>G n.7007A>G c.6991A>G (p.Ile2331Val) c.6913A>G (p.Ile2305Val) c.4297A>G (p.Ile1433Val) c.6898A>G (p.Ile2300Val) c.112A>G (p.Ile38Val) n.7010A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90692647A>T | CA138188 | ADGRV1 | c.6994A>T (p.Ile2332Phe) c.265+16438A>T (n.265+16438A>T) n.2453A>T c.801A>T n.138A>T c.4285A>T (p.Ile1429Phe) c.1723A>T n.7007A>T c.6991A>T (p.Ile2331Phe) c.6913A>T (p.Ile2305Phe) c.4297A>T (p.Ile1433Phe) c.6898A>T (p.Ile2300Phe) c.112A>T (p.Ile38Phe) n.7010A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90692648T>A | CA360370950 | ADGRV1 | c.6995T>A (p.Ile2332Asn) c.265+16439T>A (n.265+16439T>A) n.2454T>A c.802T>A n.139T>A c.4286T>A (p.Ile1429Asn) c.1724T>A n.7008T>A c.6992T>A (p.Ile2331Asn) c.6914T>A (p.Ile2305Asn) c.4298T>A (p.Ile1433Asn) c.6899T>A (p.Ile2300Asn) c.113T>A (p.Ile38Asn) n.7011T>A | |
| 5 | g.90692648T>C | CA3339947 | ADGRV1 | c.6995T>C (p.Ile2332Thr) c.265+16439T>C (n.265+16439T>C) n.2454T>C c.802T>C n.139T>C c.4286T>C (p.Ile1429Thr) c.1724T>C n.7008T>C c.6992T>C (p.Ile2331Thr) c.6914T>C (p.Ile2305Thr) c.4298T>C (p.Ile1433Thr) c.6899T>C (p.Ile2300Thr) c.113T>C (p.Ile38Thr) n.7011T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90692648T>G | CA360370955 | ADGRV1 | c.6995T>G (p.Ile2332Ser) c.265+16439T>G (n.265+16439T>G) n.2454T>G c.802T>G n.139T>G c.4286T>G (p.Ile1429Ser) c.1724T>G n.7008T>G c.6992T>G (p.Ile2331Ser) c.6914T>G (p.Ile2305Ser) c.4298T>G (p.Ile1433Ser) c.6899T>G (p.Ile2300Ser) c.113T>G (p.Ile38Ser) n.7011T>G | |
| 5 | g.90692648T= | CA1562859265 | ADGRV1 | c.6995T= (p.Ile2332=) c.265+16439T= (n.265+16439T=) n.2454T= c.802T= n.139T= c.4286T= (p.Ile1429=) c.1724T= n.7008T= c.6992T= (p.Ile2331=) c.6914T= (p.Ile2305=) c.4298T= (p.Ile1433=) c.6899T= (p.Ile2300=) c.113T= (p.Ile38=) n.7011T= | |
| 5 | g.90692649T>A | CA445404486 | ADGRV1 | c.6996T>A (p.Ile2332=) c.265+16440T>A (n.265+16440T>A) n.2455T>A c.803T>A n.140T>A c.4287T>A (p.Ile1429=) c.1725T>A n.7009T>A c.6993T>A (p.Ile2331=) c.6915T>A (p.Ile2305=) c.4299T>A (p.Ile1433=) c.6900T>A (p.Ile2300=) c.114T>A (p.Ile38=) n.7012T>A | |
| 5 | g.90692649T>C | CA445404487 | ADGRV1 | c.6996T>C (p.Ile2332=) c.265+16440T>C (n.265+16440T>C) n.2455T>C c.803T>C n.140T>C c.4287T>C (p.Ile1429=) c.1725T>C n.7009T>C c.6993T>C (p.Ile2331=) c.6915T>C (p.Ile2305=) c.4299T>C (p.Ile1433=) c.6900T>C (p.Ile2300=) c.114T>C (p.Ile38=) n.7012T>C | gnomAD v4 |
| 5 | g.90692649T>G | CA360370956 | ADGRV1 | c.6996T>G (p.Ile2332Met) c.265+16440T>G (n.265+16440T>G) n.2455T>G c.803T>G n.140T>G c.4287T>G (p.Ile1429Met) c.1725T>G n.7009T>G c.6993T>G (p.Ile2331Met) c.6915T>G (p.Ile2305Met) c.4299T>G (p.Ile1433Met) c.6900T>G (p.Ile2300Met) c.114T>G (p.Ile38Met) n.7012T>G | |
| 5 | g.90692650G>A | CA360370965 | ADGRV1 | c.6997G>A (p.Gly2333Arg) c.265+16441G>A (n.265+16441G>A) n.2456G>A c.804G>A n.141G>A c.4288G>A (p.Gly1430Arg) c.1726G>A n.7010G>A c.6994G>A (p.Gly2332Arg) c.6916G>A (p.Gly2306Arg) c.4300G>A (p.Gly1434Arg) c.6901G>A (p.Gly2301Arg) c.115G>A (p.Gly39Arg) n.7013G>A | |
| 5 | g.90692650G>C | CA360370962 | ADGRV1 | c.6997G>C (p.Gly2333Arg) c.265+16441G>C (n.265+16441G>C) n.2456G>C c.804G>C n.141G>C c.4288G>C (p.Gly1430Arg) c.1726G>C n.7010G>C c.6994G>C (p.Gly2332Arg) c.6916G>C (p.Gly2306Arg) c.4300G>C (p.Gly1434Arg) c.6901G>C (p.Gly2301Arg) c.115G>C (p.Gly39Arg) n.7013G>C | |
| 5 | g.90692650G>T | CA360370959 | ADGRV1 | c.6997G>T (p.Gly2333Trp) c.265+16441G>T (n.265+16441G>T) n.2456G>T c.804G>T n.141G>T c.4288G>T (p.Gly1430Trp) c.1726G>T n.7010G>T c.6994G>T (p.Gly2332Trp) c.6916G>T (p.Gly2306Trp) c.4300G>T (p.Gly1434Trp) c.6901G>T (p.Gly2301Trp) c.115G>T (p.Gly39Trp) n.7013G>T | gnomAD v4 |
| 5 | g.90692651G>A | CA360370972 | ADGRV1 | c.6998G>A (p.Gly2333Glu) c.265+16442G>A (n.265+16442G>A) n.2457G>A c.805G>A n.142G>A c.4289G>A (p.Gly1430Glu) c.1727G>A n.7011G>A c.6995G>A (p.Gly2332Glu) c.6917G>A (p.Gly2306Glu) c.4301G>A (p.Gly1434Glu) c.6902G>A (p.Gly2301Glu) c.116G>A (p.Gly39Glu) n.7014G>A | |
| 5 | g.90692651G>C | CA360370974 | ADGRV1 | c.6998G>C (p.Gly2333Ala) c.265+16442G>C (n.265+16442G>C) n.2457G>C c.805G>C n.142G>C c.4289G>C (p.Gly1430Ala) c.1727G>C n.7011G>C c.6995G>C (p.Gly2332Ala) c.6917G>C (p.Gly2306Ala) c.4301G>C (p.Gly1434Ala) c.6902G>C (p.Gly2301Ala) c.116G>C (p.Gly39Ala) n.7014G>C | |
| 5 | g.90692651G>T | CA360370978 | ADGRV1 | c.6998G>T (p.Gly2333Val) c.265+16442G>T (n.265+16442G>T) n.2457G>T c.805G>T n.142G>T c.4289G>T (p.Gly1430Val) c.1727G>T n.7011G>T c.6995G>T (p.Gly2332Val) c.6917G>T (p.Gly2306Val) c.4301G>T (p.Gly1434Val) c.6902G>T (p.Gly2301Val) c.116G>T (p.Gly39Val) n.7014G>T | gnomAD v4 |