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.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 |
| 5 | g.90692652G>A | CA445404488 | ADGRV1 | c.6999G>A (p.Gly2333=) c.265+16443G>A (n.265+16443G>A) n.2458G>A c.806G>A n.143G>A c.4290G>A (p.Gly1430=) c.1728G>A n.7012G>A c.6996G>A (p.Gly2332=) c.6918G>A (p.Gly2306=) c.4302G>A (p.Gly1434=) c.6903G>A (p.Gly2301=) c.117G>A (p.Gly39=) n.7015G>A | |
| 5 | g.90692652G>C | CA445404489 | ADGRV1 | c.6999G>C (p.Gly2333=) c.265+16443G>C (n.265+16443G>C) n.2458G>C c.806G>C n.143G>C c.4290G>C (p.Gly1430=) c.1728G>C n.7012G>C c.6996G>C (p.Gly2332=) c.6918G>C (p.Gly2306=) c.4302G>C (p.Gly1434=) c.6903G>C (p.Gly2301=) c.117G>C (p.Gly39=) n.7015G>C | |
| 5 | g.90692652G>T | CA445404490 | ADGRV1 | c.6999G>T (p.Gly2333=) c.265+16443G>T (n.265+16443G>T) n.2458G>T c.806G>T n.143G>T c.4290G>T (p.Gly1430=) c.1728G>T n.7012G>T c.6996G>T (p.Gly2332=) c.6918G>T (p.Gly2306=) c.4302G>T (p.Gly1434=) c.6903G>T (p.Gly2301=) c.117G>T (p.Gly39=) n.7015G>T | |
| 5 | g.90692653T>A | CA360370980 | ADGRV1 | c.7000T>A (p.Leu2334Ile) c.265+16444T>A (n.265+16444T>A) n.2459T>A c.807T>A n.144T>A c.4291T>A (p.Leu1431Ile) c.1729T>A n.7013T>A c.6997T>A (p.Leu2333Ile) c.6919T>A (p.Leu2307Ile) c.4303T>A (p.Leu1435Ile) c.6904T>A (p.Leu2302Ile) c.118T>A (p.Leu40Ile) n.7016T>A | |
| 5 | g.90692653T>C | CA445404491 | ADGRV1 | c.7000T>C (p.Leu2334=) c.265+16444T>C (n.265+16444T>C) n.2459T>C c.807T>C n.144T>C c.4291T>C (p.Leu1431=) c.1729T>C n.7013T>C c.6997T>C (p.Leu2333=) c.6919T>C (p.Leu2307=) c.4303T>C (p.Leu1435=) c.6904T>C (p.Leu2302=) c.118T>C (p.Leu40=) n.7016T>C | |
| 5 | g.90692653T>G | CA360370981 | ADGRV1 | c.7000T>G (p.Leu2334Val) c.265+16444T>G (n.265+16444T>G) n.2459T>G c.807T>G n.144T>G c.4291T>G (p.Leu1431Val) c.1729T>G n.7013T>G c.6997T>G (p.Leu2333Val) c.6919T>G (p.Leu2307Val) c.4303T>G (p.Leu1435Val) c.6904T>G (p.Leu2302Val) c.118T>G (p.Leu40Val) n.7016T>G | |
| 5 | g.90692654T>A | CA360370983 | ADGRV1 | c.7001T>A (p.Leu2334Ter) c.265+16445T>A (n.265+16445T>A) n.2460T>A c.808T>A n.145T>A c.4292T>A (p.Leu1431Ter) c.1730T>A n.7014T>A c.6998T>A (p.Leu2333Ter) c.6920T>A (p.Leu2307Ter) c.4304T>A (p.Leu1435Ter) c.6905T>A (p.Leu2302Ter) c.119T>A (p.Leu40Ter) n.7017T>A | |
| 5 | g.90692654T>C | CA360370985 | ADGRV1 | c.7001T>C (p.Leu2334Ser) c.265+16445T>C (n.265+16445T>C) n.2460T>C c.808T>C n.145T>C c.4292T>C (p.Leu1431Ser) c.1730T>C n.7014T>C c.6998T>C (p.Leu2333Ser) c.6920T>C (p.Leu2307Ser) c.4304T>C (p.Leu1435Ser) c.6905T>C (p.Leu2302Ser) c.119T>C (p.Leu40Ser) n.7017T>C | |
| 5 | g.90692654T>G | CA360370992 | ADGRV1 | c.7001T>G (p.Leu2334Ter) c.265+16445T>G (n.265+16445T>G) n.2460T>G c.808T>G n.145T>G c.4292T>G (p.Leu1431Ter) c.1730T>G n.7014T>G c.6998T>G (p.Leu2333Ter) c.6920T>G (p.Leu2307Ter) c.4304T>G (p.Leu1435Ter) c.6905T>G (p.Leu2302Ter) c.119T>G (p.Leu40Ter) n.7017T>G | gnomAD v4 |
| 5 | g.90692655A>C | CA360371002 | ADGRV1 | c.7002A>C (p.Leu2334Phe) c.265+16446A>C (n.265+16446A>C) n.2461A>C c.809A>C n.146A>C c.4293A>C (p.Leu1431Phe) c.1731A>C n.7015A>C c.6999A>C (p.Leu2333Phe) c.6921A>C (p.Leu2307Phe) c.4305A>C (p.Leu1435Phe) c.6906A>C (p.Leu2302Phe) c.120A>C (p.Leu40Phe) n.7018A>C | |
| 5 | g.90692655A>G | CA445404492 | ADGRV1 | c.7002A>G (p.Leu2334=) c.265+16446A>G (n.265+16446A>G) n.2461A>G c.809A>G n.146A>G c.4293A>G (p.Leu1431=) c.1731A>G n.7015A>G c.6999A>G (p.Leu2333=) c.6921A>G (p.Leu2307=) c.4305A>G (p.Leu1435=) c.6906A>G (p.Leu2302=) c.120A>G (p.Leu40=) n.7018A>G | |
| 5 | g.90692655A>T | CA360371016 | ADGRV1 | c.7002A>T (p.Leu2334Phe) c.265+16446A>T (n.265+16446A>T) n.2461A>T c.809A>T n.146A>T c.4293A>T (p.Leu1431Phe) c.1731A>T n.7015A>T c.6999A>T (p.Leu2333Phe) c.6921A>T (p.Leu2307Phe) c.4305A>T (p.Leu1435Phe) c.6906A>T (p.Leu2302Phe) c.120A>T (p.Leu40Phe) n.7018A>T | |
| 5 | g.90692656G>A | CA360371020 | ADGRV1 | c.7003G>A (p.Asp2335Asn) c.265+16447G>A (n.265+16447G>A) n.2462G>A c.810G>A n.147G>A c.4294G>A (p.Asp1432Asn) c.1732G>A n.7016G>A c.7000G>A (p.Asp2334Asn) c.6922G>A (p.Asp2308Asn) c.4306G>A (p.Asp1436Asn) c.6907G>A (p.Asp2303Asn) c.121G>A (p.Asp41Asn) n.7019G>A | dbSNP gnomAD v4 |
| 5 | g.90692656G>C | CA360371023 | ADGRV1 | c.7003G>C (p.Asp2335His) c.265+16447G>C (n.265+16447G>C) n.2462G>C c.810G>C n.147G>C c.4294G>C (p.Asp1432His) c.1732G>C n.7016G>C c.7000G>C (p.Asp2334His) c.6922G>C (p.Asp2308His) c.4306G>C (p.Asp1436His) c.6907G>C (p.Asp2303His) c.121G>C (p.Asp41His) n.7019G>C | gnomAD v4 |
| 5 | g.90692656G= | CA1562859266 | ADGRV1 | c.7003G= (p.Asp2335=) c.265+16447G= (n.265+16447G=) n.2462G= c.810G= n.147G= c.4294G= (p.Asp1432=) c.1732G= n.7016G= c.7000G= (p.Asp2334=) c.6922G= (p.Asp2308=) c.4306G= (p.Asp1436=) c.6907G= (p.Asp2303=) c.121G= (p.Asp41=) n.7019G= | |
| 5 | g.90692656G>T | CA360371025 | ADGRV1 | c.7003G>T (p.Asp2335Tyr) c.265+16447G>T (n.265+16447G>T) n.2462G>T c.810G>T n.147G>T c.4294G>T (p.Asp1432Tyr) c.1732G>T n.7016G>T c.7000G>T (p.Asp2334Tyr) c.6922G>T (p.Asp2308Tyr) c.4306G>T (p.Asp1436Tyr) c.6907G>T (p.Asp2303Tyr) c.121G>T (p.Asp41Tyr) n.7019G>T | ClinVar |
| 5 | g.90692657A>C | CA360371045 | ADGRV1 | c.7004A>C (p.Asp2335Ala) c.265+16448A>C (n.265+16448A>C) n.2463A>C c.811A>C n.148A>C c.4295A>C (p.Asp1432Ala) c.1733A>C n.7017A>C c.7001A>C (p.Asp2334Ala) c.6923A>C (p.Asp2308Ala) c.4307A>C (p.Asp1436Ala) c.6908A>C (p.Asp2303Ala) c.122A>C (p.Asp41Ala) n.7020A>C | |
| 5 | g.90692657A>G | CA360371039 | ADGRV1 | c.7004A>G (p.Asp2335Gly) c.265+16448A>G (n.265+16448A>G) n.2463A>G c.811A>G n.148A>G c.4295A>G (p.Asp1432Gly) c.1733A>G n.7017A>G c.7001A>G (p.Asp2334Gly) c.6923A>G (p.Asp2308Gly) c.4307A>G (p.Asp1436Gly) c.6908A>G (p.Asp2303Gly) c.122A>G (p.Asp41Gly) n.7020A>G | |
| 5 | g.90692657A>T | CA360371035 | ADGRV1 | c.7004A>T (p.Asp2335Val) c.265+16448A>T (n.265+16448A>T) n.2463A>T c.811A>T n.148A>T c.4295A>T (p.Asp1432Val) c.1733A>T n.7017A>T c.7001A>T (p.Asp2334Val) c.6923A>T (p.Asp2308Val) c.4307A>T (p.Asp1436Val) c.6908A>T (p.Asp2303Val) c.122A>T (p.Asp41Val) n.7020A>T | gnomAD v4 |
| 5 | g.90692658T>A | CA360371047 | ADGRV1 | c.7005T>A (p.Asp2335Glu) c.265+16449T>A (n.265+16449T>A) n.2464T>A c.812T>A n.149T>A c.4296T>A (p.Asp1432Glu) c.1734T>A n.7018T>A c.7002T>A (p.Asp2334Glu) c.6924T>A (p.Asp2308Glu) c.4308T>A (p.Asp1436Glu) c.6909T>A (p.Asp2303Glu) c.123T>A (p.Asp41Glu) n.7021T>A | |
| 5 | g.90692658T>C | CA445404493 | ADGRV1 | c.7005T>C (p.Asp2335=) c.265+16449T>C (n.265+16449T>C) n.2464T>C c.812T>C n.149T>C c.4296T>C (p.Asp1432=) c.1734T>C n.7018T>C c.7002T>C (p.Asp2334=) c.6924T>C (p.Asp2308=) c.4308T>C (p.Asp1436=) c.6909T>C (p.Asp2303=) c.123T>C (p.Asp41=) n.7021T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90692658T>G | CA3339948 | ADGRV1 | c.7005T>G (p.Asp2335Glu) c.265+16449T>G (n.265+16449T>G) n.2464T>G c.812T>G n.149T>G c.4296T>G (p.Asp1432Glu) c.1734T>G n.7018T>G c.7002T>G (p.Asp2334Glu) c.6924T>G (p.Asp2308Glu) c.4308T>G (p.Asp1436Glu) c.6909T>G (p.Asp2303Glu) c.123T>G (p.Asp41Glu) n.7021T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90692658T= | CA1562859267 | ADGRV1 | c.7005T= (p.Asp2335=) c.265+16449T= (n.265+16449T=) n.2464T= c.812T= n.149T= c.4296T= (p.Asp1432=) c.1734T= n.7018T= c.7002T= (p.Asp2334=) c.6924T= (p.Asp2308=) c.4308T= (p.Asp1436=) c.6909T= (p.Asp2303=) c.123T= (p.Asp41=) n.7021T= | |
| 5 | g.90692659C>A | CA445404494 | ADGRV1 | c.7006C>A (p.Arg2336=) c.265+16450C>A (n.265+16450C>A) n.2465C>A c.813C>A n.150C>A c.4297C>A (p.Arg1433=) c.1735C>A n.7019C>A c.7003C>A (p.Arg2335=) c.6925C>A (p.Arg2309=) c.4309C>A (p.Arg1437=) c.6910C>A (p.Arg2304=) c.124C>A (p.Arg42=) n.7022C>A | ClinVar COSMIC |
| 5 | g.90692659C= | CA1562859268 | ADGRV1 | c.7006C= (p.Arg2336=) c.265+16450C= (n.265+16450C=) n.2465C= c.813C= n.150C= c.4297C= (p.Arg1433=) c.1735C= n.7019C= c.7003C= (p.Arg2335=) c.6925C= (p.Arg2309=) c.4309C= (p.Arg1437=) c.6910C= (p.Arg2304=) c.124C= (p.Arg42=) n.7022C= | |
| 5 | g.90692659C>G | CA360371049 | ADGRV1 | c.7006C>G (p.Arg2336Gly) c.265+16450C>G (n.265+16450C>G) n.2465C>G c.813C>G n.150C>G c.4297C>G (p.Arg1433Gly) c.1735C>G n.7019C>G c.7003C>G (p.Arg2335Gly) c.6925C>G (p.Arg2309Gly) c.4309C>G (p.Arg1437Gly) c.6910C>G (p.Arg2304Gly) c.124C>G (p.Arg42Gly) n.7022C>G |