Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90692631C>A | CA445404469 | ADGRV1 | c.6978C>A (p.Ala2326=) c.265+16422C>A (n.265+16422C>A) n.2437C>A c.785C>A n.122C>A c.4269C>A (p.Ala1423=) c.1707C>A n.6991C>A c.6975C>A (p.Ala2325=) c.6897C>A (p.Ala2299=) c.4281C>A (p.Ala1427=) c.6882C>A (p.Ala2294=) c.96C>A (p.Ala32=) n.6994C>A | gnomAD v4 |
5 | g.90692631C>G | CA445404470 | ADGRV1 | c.6978C>G (p.Ala2326=) c.265+16422C>G (n.265+16422C>G) n.2437C>G c.785C>G n.122C>G c.4269C>G (p.Ala1423=) c.1707C>G n.6991C>G c.6975C>G (p.Ala2325=) c.6897C>G (p.Ala2299=) c.4281C>G (p.Ala1427=) c.6882C>G (p.Ala2294=) c.96C>G (p.Ala32=) n.6994C>G | |
5 | g.90692631C>T | CA445404471 | ADGRV1 | c.6978C>T (p.Ala2326=) c.265+16422C>T (n.265+16422C>T) n.2437C>T c.785C>T n.122C>T c.4269C>T (p.Ala1423=) c.1707C>T n.6991C>T c.6975C>T (p.Ala2325=) c.6897C>T (p.Ala2299=) c.4281C>T (p.Ala1427=) c.6882C>T (p.Ala2294=) c.96C>T (p.Ala32=) n.6994C>T | gnomAD v4 |
5 | g.90692632T>A | CA360370807 | ADGRV1 | c.6979T>A (p.Ser2327Thr) c.265+16423T>A (n.265+16423T>A) n.2438T>A c.786T>A n.123T>A c.4270T>A (p.Ser1424Thr) c.1708T>A n.6992T>A c.6976T>A (p.Ser2326Thr) c.6898T>A (p.Ser2300Thr) c.4282T>A (p.Ser1428Thr) c.6883T>A (p.Ser2295Thr) c.97T>A (p.Ser33Thr) n.6995T>A | |
5 | g.90692632T>C | CA360370815 | ADGRV1 | c.6979T>C (p.Ser2327Pro) c.265+16423T>C (n.265+16423T>C) n.2438T>C c.786T>C n.123T>C c.4270T>C (p.Ser1424Pro) c.1708T>C n.6992T>C c.6976T>C (p.Ser2326Pro) c.6898T>C (p.Ser2300Pro) c.4282T>C (p.Ser1428Pro) c.6883T>C (p.Ser2295Pro) c.97T>C (p.Ser33Pro) n.6995T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692632T>G | CA360370820 | ADGRV1 | c.6979T>G (p.Ser2327Ala) c.265+16423T>G (n.265+16423T>G) n.2438T>G c.786T>G n.123T>G c.4270T>G (p.Ser1424Ala) c.1708T>G n.6992T>G c.6976T>G (p.Ser2326Ala) c.6898T>G (p.Ser2300Ala) c.4282T>G (p.Ser1428Ala) c.6883T>G (p.Ser2295Ala) c.97T>G (p.Ser33Ala) n.6995T>G | gnomAD v4 |
5 | g.90692632T= | CA1562859255 | ADGRV1 | c.6979T= (p.Ser2327=) c.265+16423T= (n.265+16423T=) n.2438T= c.786T= n.123T= c.4270T= (p.Ser1424=) c.1708T= n.6992T= c.6976T= (p.Ser2326=) c.6898T= (p.Ser2300=) c.4282T= (p.Ser1428=) c.6883T= (p.Ser2295=) c.97T= (p.Ser33=) n.6995T= | |
5 | g.90692633C>A | CA360370824 | ADGRV1 | c.6980C>A (p.Ser2327Tyr) c.265+16424C>A (n.265+16424C>A) n.2439C>A c.787C>A n.124C>A c.4271C>A (p.Ser1424Tyr) c.1709C>A n.6993C>A c.6977C>A (p.Ser2326Tyr) c.6899C>A (p.Ser2300Tyr) c.4283C>A (p.Ser1428Tyr) c.6884C>A (p.Ser2295Tyr) c.98C>A (p.Ser33Tyr) n.6996C>A | |
5 | g.90692633C>G | CA360370827 | ADGRV1 | c.6980C>G (p.Ser2327Cys) c.265+16424C>G (n.265+16424C>G) n.2439C>G c.787C>G n.124C>G c.4271C>G (p.Ser1424Cys) c.1709C>G n.6993C>G c.6977C>G (p.Ser2326Cys) c.6899C>G (p.Ser2300Cys) c.4283C>G (p.Ser1428Cys) c.6884C>G (p.Ser2295Cys) c.98C>G (p.Ser33Cys) n.6996C>G | |
5 | g.90692633C>T | CA360370832 | ADGRV1 | c.6980C>T (p.Ser2327Phe) c.265+16424C>T (n.265+16424C>T) n.2439C>T c.787C>T n.124C>T c.4271C>T (p.Ser1424Phe) c.1709C>T n.6993C>T c.6977C>T (p.Ser2326Phe) c.6899C>T (p.Ser2300Phe) c.4283C>T (p.Ser1428Phe) c.6884C>T (p.Ser2295Phe) c.98C>T (p.Ser33Phe) n.6996C>T | |
5 | g.90692633_90692634delinsCT | CA1562859256 | ADGRV1 | c.6980_6981delinsCT (p.Ser2327=) c.265+16424_265+16425delinsCT (n.265+16424_265+16425delinsCT) n.2439_2440delinsCT c.787_788delinsCT n.124_125delinsCT c.4271_4272delinsCT (p.Ser1424=) c.1709_1710delinsCT n.6993_6994delinsCT c.6977_6978delinsCT (p.Ser2326=) c.6899_6900delinsCT (p.Ser2300=) c.4283_4284delinsCT (p.Ser1428=) c.6884_6885delinsCT (p.Ser2295=) c.98_99delinsCT (p.Ser33=) n.6996_6997delinsCT | |
5 | g.90692634del | CA561259819 | ADGRV1 | c.6981del (p.Gly2328ValfsTer7) c.265+16425del (n.265+16425del) n.2440del c.788del n.125del c.4272del (p.Gly1425ValfsTer7) c.1710del n.6994del c.6978del (p.Gly2327ValfsTer7) c.6900del (p.Gly2301ValfsTer7) c.4284del (p.Gly1429ValfsTer7) c.6885del (p.Gly2296ValfsTer7) c.99del (p.Gly34ValfsTer7) n.6997del | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692634T>A | CA445404472 | ADGRV1 | c.6981T>A (p.Ser2327=) c.265+16425T>A (n.265+16425T>A) n.2440T>A c.788T>A n.125T>A c.4272T>A (p.Ser1424=) c.1710T>A n.6994T>A c.6978T>A (p.Ser2326=) c.6900T>A (p.Ser2300=) c.4284T>A (p.Ser1428=) c.6885T>A (p.Ser2295=) c.99T>A (p.Ser33=) n.6997T>A | |
5 | g.90692634T>C | CA445404474 | ADGRV1 | c.6981T>C (p.Ser2327=) c.265+16425T>C (n.265+16425T>C) n.2440T>C c.788T>C n.125T>C c.4272T>C (p.Ser1424=) c.1710T>C n.6994T>C c.6978T>C (p.Ser2326=) c.6900T>C (p.Ser2300=) c.4284T>C (p.Ser1428=) c.6885T>C (p.Ser2295=) c.99T>C (p.Ser33=) n.6997T>C | gnomAD v4 |
5 | g.90692634T>G | CA445404473 | ADGRV1 | c.6981T>G (p.Ser2327=) c.265+16425T>G (n.265+16425T>G) n.2440T>G c.788T>G n.125T>G c.4272T>G (p.Ser1424=) c.1710T>G n.6994T>G c.6978T>G (p.Ser2326=) c.6900T>G (p.Ser2300=) c.4284T>G (p.Ser1428=) c.6885T>G (p.Ser2295=) c.99T>G (p.Ser33=) n.6997T>G | |
5 | g.90692635G>A | CA360370841 | ADGRV1 | c.6982G>A (p.Gly2328Ser) c.265+16426G>A (n.265+16426G>A) n.2441G>A c.789G>A n.126G>A c.4273G>A (p.Gly1425Ser) c.1711G>A n.6995G>A c.6979G>A (p.Gly2327Ser) c.6901G>A (p.Gly2301Ser) c.4285G>A (p.Gly1429Ser) c.6886G>A (p.Gly2296Ser) c.100G>A (p.Gly34Ser) n.6998G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692635G>C | CA360370835 | ADGRV1 | c.6982G>C (p.Gly2328Arg) c.265+16426G>C (n.265+16426G>C) n.2441G>C c.789G>C n.126G>C c.4273G>C (p.Gly1425Arg) c.1711G>C n.6995G>C c.6979G>C (p.Gly2327Arg) c.6901G>C (p.Gly2301Arg) c.4285G>C (p.Gly1429Arg) c.6886G>C (p.Gly2296Arg) c.100G>C (p.Gly34Arg) n.6998G>C | |
5 | g.90692635G= | CA1562859257 | ADGRV1 | c.6982G= (p.Gly2328=) c.265+16426G= (n.265+16426G=) n.2441G= c.789G= n.126G= c.4273G= (p.Gly1425=) c.1711G= n.6995G= c.6979G= (p.Gly2327=) c.6901G= (p.Gly2301=) c.4285G= (p.Gly1429=) c.6886G= (p.Gly2296=) c.100G= (p.Gly34=) n.6998G= | |
5 | g.90692635G>T | CA360370838 | ADGRV1 | c.6982G>T (p.Gly2328Cys) c.265+16426G>T (n.265+16426G>T) n.2441G>T c.789G>T n.126G>T c.4273G>T (p.Gly1425Cys) c.1711G>T n.6995G>T c.6979G>T (p.Gly2327Cys) c.6901G>T (p.Gly2301Cys) c.4285G>T (p.Gly1429Cys) c.6886G>T (p.Gly2296Cys) c.100G>T (p.Gly34Cys) n.6998G>T | gnomAD v4 |
5 | g.90692636G>A | CA360370845 | ADGRV1 | c.6983G>A (p.Gly2328Asp) c.265+16427G>A (n.265+16427G>A) n.2442G>A c.790G>A n.127G>A c.4274G>A (p.Gly1425Asp) c.1712G>A n.6996G>A c.6980G>A (p.Gly2327Asp) c.6902G>A (p.Gly2301Asp) c.4286G>A (p.Gly1429Asp) c.6887G>A (p.Gly2296Asp) c.101G>A (p.Gly34Asp) n.6999G>A | ClinVar |
5 | g.90692636G>C | CA360370851 | ADGRV1 | c.6983G>C (p.Gly2328Ala) c.265+16427G>C (n.265+16427G>C) n.2442G>C c.790G>C n.127G>C c.4274G>C (p.Gly1425Ala) c.1712G>C n.6996G>C c.6980G>C (p.Gly2327Ala) c.6902G>C (p.Gly2301Ala) c.4286G>C (p.Gly1429Ala) c.6887G>C (p.Gly2296Ala) c.101G>C (p.Gly34Ala) n.6999G>C | |
5 | g.90692636G= | CA1562859258 | ADGRV1 | c.6983G= (p.Gly2328=) c.265+16427G= (n.265+16427G=) n.2442G= c.790G= n.127G= c.4274G= (p.Gly1425=) c.1712G= n.6996G= c.6980G= (p.Gly2327=) c.6902G= (p.Gly2301=) c.4286G= (p.Gly1429=) c.6887G= (p.Gly2296=) c.101G= (p.Gly34=) n.6999G= | |
5 | g.90692636G>T | CA3339944 | ADGRV1 | c.6983G>T (p.Gly2328Val) c.265+16427G>T (n.265+16427G>T) n.2442G>T c.790G>T n.127G>T c.4274G>T (p.Gly1425Val) c.1712G>T n.6996G>T c.6980G>T (p.Gly2327Val) c.6902G>T (p.Gly2301Val) c.4286G>T (p.Gly1429Val) c.6887G>T (p.Gly2296Val) c.101G>T (p.Gly34Val) n.6999G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.90692637T>A | CA445404475 | ADGRV1 | c.6984T>A (p.Gly2328=) c.265+16428T>A (n.265+16428T>A) n.2443T>A c.791T>A n.128T>A c.4275T>A (p.Gly1425=) c.1713T>A n.6997T>A c.6981T>A (p.Gly2327=) c.6903T>A (p.Gly2301=) c.4287T>A (p.Gly1429=) c.6888T>A (p.Gly2296=) c.102T>A (p.Gly34=) n.7000T>A | |
5 | g.90692637T>C | CA445404476 | ADGRV1 | c.6984T>C (p.Gly2328=) c.265+16428T>C (n.265+16428T>C) n.2443T>C c.791T>C n.128T>C c.4275T>C (p.Gly1425=) c.1713T>C n.6997T>C c.6981T>C (p.Gly2327=) c.6903T>C (p.Gly2301=) c.4287T>C (p.Gly1429=) c.6888T>C (p.Gly2296=) c.102T>C (p.Gly34=) n.7000T>C | gnomAD v4 |
5 | g.90692637T>G | CA445404477 | ADGRV1 | c.6984T>G (p.Gly2328=) c.265+16428T>G (n.265+16428T>G) n.2443T>G c.791T>G n.128T>G c.4275T>G (p.Gly1425=) c.1713T>G n.6997T>G c.6981T>G (p.Gly2327=) c.6903T>G (p.Gly2301=) c.4287T>G (p.Gly1429=) c.6888T>G (p.Gly2296=) c.102T>G (p.Gly34=) n.7000T>G | |
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 |
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 | |
5 | g.90692659C>T | CA270126 | ADGRV1 | c.7006C>T (p.Arg2336Ter) c.265+16450C>T (n.265+16450C>T) n.2465C>T c.813C>T n.150C>T c.4297C>T (p.Arg1433Ter) c.1735C>T n.7019C>T c.7003C>T (p.Arg2335Ter) c.6925C>T (p.Arg2309Ter) c.4309C>T (p.Arg1437Ter) c.6910C>T (p.Arg2304Ter) c.124C>T (p.Arg42Ter) n.7022C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.90692660G>A | CA3339949 | ADGRV1 | c.7007G>A (p.Arg2336Gln) c.265+16451G>A (n.265+16451G>A) n.2466G>A c.814G>A n.151G>A c.4298G>A (p.Arg1433Gln) c.1736G>A n.7020G>A c.7004G>A (p.Arg2335Gln) c.6926G>A (p.Arg2309Gln) c.4310G>A (p.Arg1437Gln) c.6911G>A (p.Arg2304Gln) c.125G>A (p.Arg42Gln) n.7023G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692660G>C | CA360371052 | ADGRV1 | c.7007G>C (p.Arg2336Pro) c.265+16451G>C (n.265+16451G>C) n.2466G>C c.814G>C n.151G>C c.4298G>C (p.Arg1433Pro) c.1736G>C n.7020G>C c.7004G>C (p.Arg2335Pro) c.6926G>C (p.Arg2309Pro) c.4310G>C (p.Arg1437Pro) c.6911G>C (p.Arg2304Pro) c.125G>C (p.Arg42Pro) n.7023G>C | |
5 | g.90692660G= | CA1562859269 | ADGRV1 | c.7007G= (p.Arg2336=) c.265+16451G= (n.265+16451G=) n.2466G= c.814G= n.151G= c.4298G= (p.Arg1433=) c.1736G= n.7020G= c.7004G= (p.Arg2335=) c.6926G= (p.Arg2309=) c.4310G= (p.Arg1437=) c.6911G= (p.Arg2304=) c.125G= (p.Arg42=) n.7023G= | |
5 | g.90692660G>T | CA360371054 | ADGRV1 | c.7007G>T (p.Arg2336Leu) c.265+16451G>T (n.265+16451G>T) n.2466G>T c.814G>T n.151G>T c.4298G>T (p.Arg1433Leu) c.1736G>T n.7020G>T c.7004G>T (p.Arg2335Leu) c.6926G>T (p.Arg2309Leu) c.4310G>T (p.Arg1437Leu) c.6911G>T (p.Arg2304Leu) c.125G>T (p.Arg42Leu) n.7023G>T | |
5 | g.90692661A>C | CA445404495 | ADGRV1 | c.7008A>C (p.Arg2336=) c.265+16452A>C (n.265+16452A>C) n.2467A>C c.815A>C n.152A>C c.4299A>C (p.Arg1433=) c.1737A>C n.7021A>C c.7005A>C (p.Arg2335=) c.6927A>C (p.Arg2309=) c.4311A>C (p.Arg1437=) c.6912A>C (p.Arg2304=) c.126A>C (p.Arg42=) n.7024A>C | |
5 | g.90692661A>G | CA445404496 | ADGRV1 | c.7008A>G (p.Arg2336=) c.265+16452A>G (n.265+16452A>G) n.2467A>G c.815A>G n.152A>G c.4299A>G (p.Arg1433=) c.1737A>G n.7021A>G c.7005A>G (p.Arg2335=) c.6927A>G (p.Arg2309=) c.4311A>G (p.Arg1437=) c.6912A>G (p.Arg2304=) c.126A>G (p.Arg42=) n.7024A>G | |
5 | g.90692661A>T | CA445404497 | ADGRV1 | c.7008A>T (p.Arg2336=) c.265+16452A>T (n.265+16452A>T) n.2467A>T c.815A>T n.152A>T c.4299A>T (p.Arg1433=) c.1737A>T n.7021A>T c.7005A>T (p.Arg2335=) c.6927A>T (p.Arg2309=) c.4311A>T (p.Arg1437=) c.6912A>T (p.Arg2304=) c.126A>T (p.Arg42=) n.7024A>T | |
5 | g.90692662A>C | CA360371059 | ADGRV1 | c.7009A>C (p.Ile2337Leu) c.265+16453A>C (n.265+16453A>C) n.2468A>C c.816A>C n.153A>C c.4300A>C (p.Ile1434Leu) c.1738A>C n.7022A>C c.7006A>C (p.Ile2336Leu) c.6928A>C (p.Ile2310Leu) c.4312A>C (p.Ile1438Leu) c.6913A>C (p.Ile2305Leu) c.127A>C (p.Ile43Leu) n.7025A>C | |
5 | g.90692662A>G | CA360371060 | ADGRV1 | c.7009A>G (p.Ile2337Val) c.265+16453A>G (n.265+16453A>G) n.2468A>G c.816A>G n.153A>G c.4300A>G (p.Ile1434Val) c.1738A>G n.7022A>G c.7006A>G (p.Ile2336Val) c.6928A>G (p.Ile2310Val) c.4312A>G (p.Ile1438Val) c.6913A>G (p.Ile2305Val) c.127A>G (p.Ile43Val) n.7025A>G | |
5 | g.90692662A>T | CA360371061 | ADGRV1 | c.7009A>T (p.Ile2337Phe) c.265+16453A>T (n.265+16453A>T) n.2468A>T c.816A>T n.153A>T c.4300A>T (p.Ile1434Phe) c.1738A>T n.7022A>T c.7006A>T (p.Ile2336Phe) c.6928A>T (p.Ile2310Phe) c.4312A>T (p.Ile1438Phe) c.6913A>T (p.Ile2305Phe) c.127A>T (p.Ile43Phe) n.7025A>T | |
5 | g.90692663T>A | CA360371063 | ADGRV1 | c.7010T>A (p.Ile2337Asn) c.265+16454T>A (n.265+16454T>A) n.2469T>A c.817T>A n.154T>A c.4301T>A (p.Ile1434Asn) c.1739T>A n.7023T>A c.7007T>A (p.Ile2336Asn) c.6929T>A (p.Ile2310Asn) c.4313T>A (p.Ile1438Asn) c.6914T>A (p.Ile2305Asn) c.128T>A (p.Ile43Asn) n.7026T>A | dbSNP |
5 | g.90692663T>C | CA360371067 | ADGRV1 | c.7010T>C (p.Ile2337Thr) c.265+16454T>C (n.265+16454T>C) n.2469T>C c.817T>C n.154T>C c.4301T>C (p.Ile1434Thr) c.1739T>C n.7023T>C c.7007T>C (p.Ile2336Thr) c.6929T>C (p.Ile2310Thr) c.4313T>C (p.Ile1438Thr) c.6914T>C (p.Ile2305Thr) c.128T>C (p.Ile43Thr) n.7026T>C | |
5 | g.90692663T>G | CA360371070 | ADGRV1 | c.7010T>G (p.Ile2337Ser) c.265+16454T>G (n.265+16454T>G) n.2469T>G c.817T>G n.154T>G c.4301T>G (p.Ile1434Ser) c.1739T>G n.7023T>G c.7007T>G (p.Ile2336Ser) c.6929T>G (p.Ile2310Ser) c.4313T>G (p.Ile1438Ser) c.6914T>G (p.Ile2305Ser) c.128T>G (p.Ile43Ser) n.7026T>G | |
5 | g.90692664T>A | CA445404498 | ADGRV1 | c.7011T>A (p.Ile2337=) c.265+16455T>A (n.265+16455T>A) n.2470T>A c.818T>A n.155T>A c.4302T>A (p.Ile1434=) c.1740T>A n.7024T>A c.7008T>A (p.Ile2336=) c.6930T>A (p.Ile2310=) c.4314T>A (p.Ile1438=) c.6915T>A (p.Ile2305=) c.129T>A (p.Ile43=) n.7027T>A | |
5 | g.90692664T>C | CA445404499 | ADGRV1 | c.7011T>C (p.Ile2337=) c.265+16455T>C (n.265+16455T>C) n.2470T>C c.818T>C n.155T>C c.4302T>C (p.Ile1434=) c.1740T>C n.7024T>C c.7008T>C (p.Ile2336=) c.6930T>C (p.Ile2310=) c.4314T>C (p.Ile1438=) c.6915T>C (p.Ile2305=) c.129T>C (p.Ile43=) n.7027T>C | ClinVar gnomAD v4 |
5 | g.90692664T>G | CA360371072 | ADGRV1 | c.7011T>G (p.Ile2337Met) c.265+16455T>G (n.265+16455T>G) n.2470T>G c.818T>G n.155T>G c.4302T>G (p.Ile1434Met) c.1740T>G n.7024T>G c.7008T>G (p.Ile2336Met) c.6930T>G (p.Ile2310Met) c.4314T>G (p.Ile1438Met) c.6915T>G (p.Ile2305Met) c.129T>G (p.Ile43Met) n.7027T>G | |
5 | g.90692665G>A | CA360371079 | ADGRV1 | c.7012G>A (p.Ala2338Thr) c.265+16456G>A (n.265+16456G>A) n.2471G>A c.819G>A n.156G>A c.4303G>A (p.Ala1435Thr) c.1741G>A n.7025G>A c.7009G>A (p.Ala2337Thr) c.6931G>A (p.Ala2311Thr) c.4315G>A (p.Ala1439Thr) c.6916G>A (p.Ala2306Thr) c.130G>A (p.Ala44Thr) n.7028G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90692665G>C | CA360371077 | ADGRV1 | c.7012G>C (p.Ala2338Pro) c.265+16456G>C (n.265+16456G>C) n.2471G>C c.819G>C n.156G>C c.4303G>C (p.Ala1435Pro) c.1741G>C n.7025G>C c.7009G>C (p.Ala2337Pro) c.6931G>C (p.Ala2311Pro) c.4315G>C (p.Ala1439Pro) c.6916G>C (p.Ala2306Pro) c.130G>C (p.Ala44Pro) n.7028G>C | |
5 | g.90692665G= | CA1562859270 | ADGRV1 | c.7012G= (p.Ala2338=) c.265+16456G= (n.265+16456G=) n.2471G= c.819G= n.156G= c.4303G= (p.Ala1435=) c.1741G= n.7025G= c.7009G= (p.Ala2337=) c.6931G= (p.Ala2311=) c.4315G= (p.Ala1439=) c.6916G= (p.Ala2306=) c.130G= (p.Ala44=) n.7028G= | |
5 | g.90692665G>T | CA360371074 | ADGRV1 | c.7012G>T (p.Ala2338Ser) c.265+16456G>T (n.265+16456G>T) n.2471G>T c.819G>T n.156G>T c.4303G>T (p.Ala1435Ser) c.1741G>T n.7025G>T c.7009G>T (p.Ala2337Ser) c.6931G>T (p.Ala2311Ser) c.4315G>T (p.Ala1439Ser) c.6916G>T (p.Ala2306Ser) c.130G>T (p.Ala44Ser) n.7028G>T | gnomAD v4 |
5 | g.90692666C>A | CA360371085 | ADGRV1 | c.7013C>A (p.Ala2338Glu) c.265+16457C>A (n.265+16457C>A) n.2472C>A c.820C>A n.157C>A c.4304C>A (p.Ala1435Glu) c.1742C>A n.7026C>A c.7010C>A (p.Ala2337Glu) c.6932C>A (p.Ala2311Glu) c.4316C>A (p.Ala1439Glu) c.6917C>A (p.Ala2306Glu) c.131C>A (p.Ala44Glu) n.7029C>A | |
5 | g.90692666C>G | CA360371089 | ADGRV1 | c.7013C>G (p.Ala2338Gly) c.265+16457C>G (n.265+16457C>G) n.2472C>G c.820C>G n.157C>G c.4304C>G (p.Ala1435Gly) c.1742C>G n.7026C>G c.7010C>G (p.Ala2337Gly) c.6932C>G (p.Ala2311Gly) c.4316C>G (p.Ala1439Gly) c.6917C>G (p.Ala2306Gly) c.131C>G (p.Ala44Gly) n.7029C>G | |
5 | g.90692666C>T | CA360371092 | ADGRV1 | c.7013C>T (p.Ala2338Val) c.265+16457C>T (n.265+16457C>T) n.2472C>T c.820C>T n.157C>T c.4304C>T (p.Ala1435Val) c.1742C>T n.7026C>T c.7010C>T (p.Ala2337Val) c.6932C>T (p.Ala2311Val) c.4316C>T (p.Ala1439Val) c.6917C>T (p.Ala2306Val) c.131C>T (p.Ala44Val) n.7029C>T | gnomAD v4 |
5 | g.90692667A>C | CA445404500 | ADGRV1 | c.7014A>C (p.Ala2338=) c.265+16458A>C (n.265+16458A>C) n.2473A>C c.821A>C n.158A>C c.4305A>C (p.Ala1435=) c.1743A>C n.7027A>C c.7011A>C (p.Ala2337=) c.6933A>C (p.Ala2311=) c.4317A>C (p.Ala1439=) c.6918A>C (p.Ala2306=) c.132A>C (p.Ala44=) n.7030A>C | |
5 | g.90692667A>G | CA445404501 | ADGRV1 | c.7014A>G (p.Ala2338=) c.265+16458A>G (n.265+16458A>G) n.2473A>G c.821A>G n.158A>G c.4305A>G (p.Ala1435=) c.1743A>G n.7027A>G c.7011A>G (p.Ala2337=) c.6933A>G (p.Ala2311=) c.4317A>G (p.Ala1439=) c.6918A>G (p.Ala2306=) c.132A>G (p.Ala44=) n.7030A>G | |
5 | g.90692667A>T | CA445404502 | ADGRV1 | c.7014A>T (p.Ala2338=) c.265+16458A>T (n.265+16458A>T) n.2473A>T c.821A>T n.158A>T c.4305A>T (p.Ala1435=) c.1743A>T n.7027A>T c.7011A>T (p.Ala2337=) c.6933A>T (p.Ala2311=) c.4317A>T (p.Ala1439=) c.6918A>T (p.Ala2306=) c.132A>T (p.Ala44=) n.7030A>T | |
5 | g.90692668A= | CA1562859271 | ADGRV1 | c.7015A= (p.Asn2339=) c.265+16459A= (n.265+16459A=) n.2474A= c.822A= n.159A= c.4306A= (p.Asn1436=) c.1744A= n.7028A= c.7012A= (p.Asn2338=) c.6934A= (p.Asn2312=) c.4318A= (p.Asn1440=) c.6919A= (p.Asn2307=) c.133A= (p.Asn45=) n.7031A= | |
5 | g.90692668A>C | CA360371094 | ADGRV1 | c.7015A>C (p.Asn2339His) c.265+16459A>C (n.265+16459A>C) n.2474A>C c.822A>C n.159A>C c.4306A>C (p.Asn1436His) c.1744A>C n.7028A>C c.7012A>C (p.Asn2338His) c.6934A>C (p.Asn2312His) c.4318A>C (p.Asn1440His) c.6919A>C (p.Asn2307His) c.133A>C (p.Asn45His) n.7031A>C | |
5 | g.90692668A>G | CA360371096 | ADGRV1 | c.7015A>G (p.Asn2339Asp) c.265+16459A>G (n.265+16459A>G) n.2474A>G c.822A>G n.159A>G c.4306A>G (p.Asn1436Asp) c.1744A>G n.7028A>G c.7012A>G (p.Asn2338Asp) c.6934A>G (p.Asn2312Asp) c.4318A>G (p.Asn1440Asp) c.6919A>G (p.Asn2307Asp) c.133A>G (p.Asn45Asp) n.7031A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692668A>T | CA360371104 | ADGRV1 | c.7015A>T (p.Asn2339Tyr) c.265+16459A>T (n.265+16459A>T) n.2474A>T c.822A>T n.159A>T c.4306A>T (p.Asn1436Tyr) c.1744A>T n.7028A>T c.7012A>T (p.Asn2338Tyr) c.6934A>T (p.Asn2312Tyr) c.4318A>T (p.Asn1440Tyr) c.6919A>T (p.Asn2307Tyr) c.133A>T (p.Asn45Tyr) n.7031A>T | |
5 | g.90692669A>C | CA360371112 | ADGRV1 | c.7016A>C (p.Asn2339Thr) c.265+16460A>C (n.265+16460A>C) n.2475A>C c.823A>C n.160A>C c.4307A>C (p.Asn1436Thr) c.1745A>C n.7029A>C c.7013A>C (p.Asn2338Thr) c.6935A>C (p.Asn2312Thr) c.4319A>C (p.Asn1440Thr) c.6920A>C (p.Asn2307Thr) c.134A>C (p.Asn45Thr) n.7032A>C | |
5 | g.90692669A>G | CA360371108 | ADGRV1 | c.7016A>G (p.Asn2339Ser) c.265+16460A>G (n.265+16460A>G) n.2475A>G c.823A>G n.160A>G c.4307A>G (p.Asn1436Ser) c.1745A>G n.7029A>G c.7013A>G (p.Asn2338Ser) c.6935A>G (p.Asn2312Ser) c.4319A>G (p.Asn1440Ser) c.6920A>G (p.Asn2307Ser) c.134A>G (p.Asn45Ser) n.7032A>G | |
5 | g.90692669A>T | CA360371110 | ADGRV1 | c.7016A>T (p.Asn2339Ile) c.265+16460A>T (n.265+16460A>T) n.2475A>T c.823A>T n.160A>T c.4307A>T (p.Asn1436Ile) c.1745A>T n.7029A>T c.7013A>T (p.Asn2338Ile) c.6935A>T (p.Asn2312Ile) c.4319A>T (p.Asn1440Ile) c.6920A>T (p.Asn2307Ile) c.134A>T (p.Asn45Ile) n.7032A>T | |
5 | g.90692670T>A | CA360371117 | ADGRV1 | c.7017T>A (p.Asn2339Lys) c.265+16461T>A (n.265+16461T>A) n.2476T>A c.824T>A n.161T>A c.4308T>A (p.Asn1436Lys) c.1746T>A n.7030T>A c.7014T>A (p.Asn2338Lys) c.6936T>A (p.Asn2312Lys) c.4320T>A (p.Asn1440Lys) c.6921T>A (p.Asn2307Lys) c.135T>A (p.Asn45Lys) n.7033T>A | |
5 | g.90692670T>C | CA445404503 | ADGRV1 | c.7017T>C (p.Asn2339=) c.265+16461T>C (n.265+16461T>C) n.2476T>C c.824T>C n.161T>C c.4308T>C (p.Asn1436=) c.1746T>C n.7030T>C c.7014T>C (p.Asn2338=) c.6936T>C (p.Asn2312=) c.4320T>C (p.Asn1440=) c.6921T>C (p.Asn2307=) c.135T>C (p.Asn45=) n.7033T>C | |
5 | g.90692670T>G | CA360371121 | ADGRV1 | c.7017T>G (p.Asn2339Lys) c.265+16461T>G (n.265+16461T>G) n.2476T>G c.824T>G n.161T>G c.4308T>G (p.Asn1436Lys) c.1746T>G n.7030T>G c.7014T>G (p.Asn2338Lys) c.6936T>G (p.Asn2312Lys) c.4320T>G (p.Asn1440Lys) c.6921T>G (p.Asn2307Lys) c.135T>G (p.Asn45Lys) n.7033T>G | |
5 | g.90692677_90692679del | CA2674567854 | ADGRV1 | c.7024_7026del (p.Ile2342del) c.265+16468_265+16470del (n.265+16468_265+16470del) n.2483_2485del c.831_833del n.168_170del c.4315_4317del (p.Ile1439del) c.1753_1755del n.7037_7039del c.7021_7023del (p.Ile2341del) c.6943_6945del (p.Ile2315del) c.4327_4329del (p.Ile1443del) c.6928_6930del (p.Ile2310del) c.142_144del (p.Ile48del) n.7040_7042del | ClinVar gnomAD v4 |
5 | g.90692671A= | CA1562859272 | ADGRV1 | c.7018A= (p.Ile2340=) c.265+16462A= (n.265+16462A=) n.2477A= c.825A= n.162A= c.4309A= (p.Ile1437=) c.1747A= n.7031A= c.7015A= (p.Ile2339=) c.6937A= (p.Ile2313=) c.4321A= (p.Ile1441=) c.6922A= (p.Ile2308=) c.136A= (p.Ile46=) n.7034A= | |
5 | g.90692671A>C | CA360371128 | ADGRV1 | c.7018A>C (p.Ile2340Leu) c.265+16462A>C (n.265+16462A>C) n.2477A>C c.825A>C n.162A>C c.4309A>C (p.Ile1437Leu) c.1747A>C n.7031A>C c.7015A>C (p.Ile2339Leu) c.6937A>C (p.Ile2313Leu) c.4321A>C (p.Ile1441Leu) c.6922A>C (p.Ile2308Leu) c.136A>C (p.Ile46Leu) n.7034A>C | |
5 | g.90692671A>G | CA360371132 | ADGRV1 | c.7018A>G (p.Ile2340Val) c.265+16462A>G (n.265+16462A>G) n.2477A>G c.825A>G n.162A>G c.4309A>G (p.Ile1437Val) c.1747A>G n.7031A>G c.7015A>G (p.Ile2339Val) c.6937A>G (p.Ile2313Val) c.4321A>G (p.Ile1441Val) c.6922A>G (p.Ile2308Val) c.136A>G (p.Ile46Val) n.7034A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692671A>T | CA360371133 | ADGRV1 | c.7018A>T (p.Ile2340Phe) c.265+16462A>T (n.265+16462A>T) n.2477A>T c.825A>T n.162A>T c.4309A>T (p.Ile1437Phe) c.1747A>T n.7031A>T c.7015A>T (p.Ile2339Phe) c.6937A>T (p.Ile2313Phe) c.4321A>T (p.Ile1441Phe) c.6922A>T (p.Ile2308Phe) c.136A>T (p.Ile46Phe) n.7034A>T | |
5 | g.90692672T>A | CA360371136 | ADGRV1 | c.7019T>A (p.Ile2340Asn) c.265+16463T>A (n.265+16463T>A) n.2478T>A c.826T>A n.163T>A c.4310T>A (p.Ile1437Asn) c.1748T>A n.7032T>A c.7016T>A (p.Ile2339Asn) c.6938T>A (p.Ile2313Asn) c.4322T>A (p.Ile1441Asn) c.6923T>A (p.Ile2308Asn) c.137T>A (p.Ile46Asn) n.7035T>A | |
5 | g.90692672T>C | CA360371142 | ADGRV1 | c.7019T>C (p.Ile2340Thr) c.265+16463T>C (n.265+16463T>C) n.2478T>C c.826T>C n.163T>C c.4310T>C (p.Ile1437Thr) c.1748T>C n.7032T>C c.7016T>C (p.Ile2339Thr) c.6938T>C (p.Ile2313Thr) c.4322T>C (p.Ile1441Thr) c.6923T>C (p.Ile2308Thr) c.137T>C (p.Ile46Thr) n.7035T>C | |
5 | g.90692672T>G | CA360371140 | ADGRV1 | c.7019T>G (p.Ile2340Ser) c.265+16463T>G (n.265+16463T>G) n.2478T>G c.826T>G n.163T>G c.4310T>G (p.Ile1437Ser) c.1748T>G n.7032T>G c.7016T>G (p.Ile2339Ser) c.6938T>G (p.Ile2313Ser) c.4322T>G (p.Ile1441Ser) c.6923T>G (p.Ile2308Ser) c.137T>G (p.Ile46Ser) n.7035T>G | |
5 | g.90692673T>A | CA445404504 | ADGRV1 | c.7020T>A (p.Ile2340=) c.265+16464T>A (n.265+16464T>A) n.2479T>A c.827T>A n.164T>A c.4311T>A (p.Ile1437=) c.1749T>A n.7033T>A c.7017T>A (p.Ile2339=) c.6939T>A (p.Ile2313=) c.4323T>A (p.Ile1441=) c.6924T>A (p.Ile2308=) c.138T>A (p.Ile46=) n.7036T>A | gnomAD v4 |
5 | g.90692673T>C | CA445404505 | ADGRV1 | c.7020T>C (p.Ile2340=) c.265+16464T>C (n.265+16464T>C) n.2479T>C c.827T>C n.164T>C c.4311T>C (p.Ile1437=) c.1749T>C n.7033T>C c.7017T>C (p.Ile2339=) c.6939T>C (p.Ile2313=) c.4323T>C (p.Ile1441=) c.6924T>C (p.Ile2308=) c.138T>C (p.Ile46=) n.7036T>C | |
5 | g.90692673T>G | CA360371146 | ADGRV1 | c.7020T>G (p.Ile2340Met) c.265+16464T>G (n.265+16464T>G) n.2479T>G c.827T>G n.164T>G c.4311T>G (p.Ile1437Met) c.1749T>G n.7033T>G c.7017T>G (p.Ile2339Met) c.6939T>G (p.Ile2313Met) c.4323T>G (p.Ile1441Met) c.6924T>G (p.Ile2308Met) c.138T>G (p.Ile46Met) n.7036T>G | COSMIC |
5 | g.90692674A= | CA1562859273 | ADGRV1 | c.7021A= (p.Ile2341=) c.265+16465A= (n.265+16465A=) n.2480A= c.828A= n.165A= c.4312A= (p.Ile1438=) c.1750A= n.7034A= c.7018A= (p.Ile2340=) c.6940A= (p.Ile2314=) c.4324A= (p.Ile1442=) c.6925A= (p.Ile2309=) c.139A= (p.Ile47=) n.7037A= | |
5 | g.90692674A>C | CA360371148 | ADGRV1 | c.7021A>C (p.Ile2341Leu) c.265+16465A>C (n.265+16465A>C) n.2480A>C c.828A>C n.165A>C c.4312A>C (p.Ile1438Leu) c.1750A>C n.7034A>C c.7018A>C (p.Ile2340Leu) c.6940A>C (p.Ile2314Leu) c.4324A>C (p.Ile1442Leu) c.6925A>C (p.Ile2309Leu) c.139A>C (p.Ile47Leu) n.7037A>C | |
5 | g.90692674A>G | CA360371153 | ADGRV1 | c.7021A>G (p.Ile2341Val) c.265+16465A>G (n.265+16465A>G) n.2480A>G c.828A>G n.165A>G c.4312A>G (p.Ile1438Val) c.1750A>G n.7034A>G c.7018A>G (p.Ile2340Val) c.6940A>G (p.Ile2314Val) c.4324A>G (p.Ile1442Val) c.6925A>G (p.Ile2309Val) c.139A>G (p.Ile47Val) n.7037A>G | |
5 | g.90692674A>T | CA360371158 | ADGRV1 | c.7021A>T (p.Ile2341Phe) c.265+16465A>T (n.265+16465A>T) n.2480A>T c.828A>T n.165A>T c.4312A>T (p.Ile1438Phe) c.1750A>T n.7034A>T c.7018A>T (p.Ile2340Phe) c.6940A>T (p.Ile2314Phe) c.4324A>T (p.Ile1442Phe) c.6925A>T (p.Ile2309Phe) c.139A>T (p.Ile47Phe) n.7037A>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692675T>A | CA360371165 | ADGRV1 | c.7022T>A (p.Ile2341Asn) c.265+16466T>A (n.265+16466T>A) n.2481T>A c.829T>A n.166T>A c.4313T>A (p.Ile1438Asn) c.1751T>A n.7035T>A c.7019T>A (p.Ile2340Asn) c.6941T>A (p.Ile2314Asn) c.4325T>A (p.Ile1442Asn) c.6926T>A (p.Ile2309Asn) c.140T>A (p.Ile47Asn) n.7038T>A | gnomAD v4 |
5 | g.90692675T>C | CA360371171 | ADGRV1 | c.7022T>C (p.Ile2341Thr) c.265+16466T>C (n.265+16466T>C) n.2481T>C c.829T>C n.166T>C c.4313T>C (p.Ile1438Thr) c.1751T>C n.7035T>C c.7019T>C (p.Ile2340Thr) c.6941T>C (p.Ile2314Thr) c.4325T>C (p.Ile1442Thr) c.6926T>C (p.Ile2309Thr) c.140T>C (p.Ile47Thr) n.7038T>C | |
5 | g.90692675T>G | CA360371172 | ADGRV1 | c.7022T>G (p.Ile2341Ser) c.265+16466T>G (n.265+16466T>G) n.2481T>G c.829T>G n.166T>G c.4313T>G (p.Ile1438Ser) c.1751T>G n.7035T>G c.7019T>G (p.Ile2340Ser) c.6941T>G (p.Ile2314Ser) c.4325T>G (p.Ile1442Ser) c.6926T>G (p.Ile2309Ser) c.140T>G (p.Ile47Ser) n.7038T>G | |
5 | g.90692676T>A | CA445404506 | ADGRV1 | c.7023T>A (p.Ile2341=) c.265+16467T>A (n.265+16467T>A) n.2482T>A c.830T>A n.167T>A c.4314T>A (p.Ile1438=) c.1752T>A n.7036T>A c.7020T>A (p.Ile2340=) c.6942T>A (p.Ile2314=) c.4326T>A (p.Ile1442=) c.6927T>A (p.Ile2309=) c.141T>A (p.Ile47=) n.7039T>A | |
5 | g.90692676T>C | CA122797187 | ADGRV1 | c.7023T>C (p.Ile2341=) c.265+16467T>C (n.265+16467T>C) n.2482T>C c.830T>C n.167T>C c.4314T>C (p.Ile1438=) c.1752T>C n.7036T>C c.7020T>C (p.Ile2340=) c.6942T>C (p.Ile2314=) c.4326T>C (p.Ile1442=) c.6927T>C (p.Ile2309=) c.141T>C (p.Ile47=) n.7039T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692676T>G | CA360371176 | ADGRV1 | c.7023T>G (p.Ile2341Met) c.265+16467T>G (n.265+16467T>G) n.2482T>G c.830T>G n.167T>G c.4314T>G (p.Ile1438Met) c.1752T>G n.7036T>G c.7020T>G (p.Ile2340Met) c.6942T>G (p.Ile2314Met) c.4326T>G (p.Ile1442Met) c.6927T>G (p.Ile2309Met) c.141T>G (p.Ile47Met) n.7039T>G | |
5 | g.90692676T= | CA1562859274 | ADGRV1 | c.7023T= (p.Ile2341=) c.265+16467T= (n.265+16467T=) n.2482T= c.830T= n.167T= c.4314T= (p.Ile1438=) c.1752T= n.7036T= c.7020T= (p.Ile2340=) c.6942T= (p.Ile2314=) c.4326T= (p.Ile1442=) c.6927T= (p.Ile2309=) c.141T= (p.Ile47=) n.7039T= | |
5 | g.90692677A= | CA1562859275 | ADGRV1 | c.7024A= (p.Ile2342=) c.265+16468A= (n.265+16468A=) n.2483A= c.831A= n.168A= c.4315A= (p.Ile1439=) c.1753A= n.7037A= c.7021A= (p.Ile2341=) c.6943A= (p.Ile2315=) c.4327A= (p.Ile1443=) c.6928A= (p.Ile2310=) c.142A= (p.Ile48=) n.7040A= | |
5 | g.90692677A>C | CA360371181 | ADGRV1 | c.7024A>C (p.Ile2342Leu) c.265+16468A>C (n.265+16468A>C) n.2483A>C c.831A>C n.168A>C c.4315A>C (p.Ile1439Leu) c.1753A>C n.7037A>C c.7021A>C (p.Ile2341Leu) c.6943A>C (p.Ile2315Leu) c.4327A>C (p.Ile1443Leu) c.6928A>C (p.Ile2310Leu) c.142A>C (p.Ile48Leu) n.7040A>C | |
5 | g.90692677A>G | CA3339950 | ADGRV1 | c.7024A>G (p.Ile2342Val) c.265+16468A>G (n.265+16468A>G) n.2483A>G c.831A>G n.168A>G c.4315A>G (p.Ile1439Val) c.1753A>G n.7037A>G c.7021A>G (p.Ile2341Val) c.6943A>G (p.Ile2315Val) c.4327A>G (p.Ile1443Val) c.6928A>G (p.Ile2310Val) c.142A>G (p.Ile48Val) n.7040A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90692677A>T | CA360371190 | ADGRV1 | c.7024A>T (p.Ile2342Phe) c.265+16468A>T (n.265+16468A>T) n.2483A>T c.831A>T n.168A>T c.4315A>T (p.Ile1439Phe) c.1753A>T n.7037A>T c.7021A>T (p.Ile2341Phe) c.6943A>T (p.Ile2315Phe) c.4327A>T (p.Ile1443Phe) c.6928A>T (p.Ile2310Phe) c.142A>T (p.Ile48Phe) n.7040A>T | |
5 | g.90692678T>A | CA360371202 | ADGRV1 | c.7025T>A (p.Ile2342Asn) c.265+16469T>A (n.265+16469T>A) n.2484T>A c.832T>A n.169T>A c.4316T>A (p.Ile1439Asn) c.1754T>A n.7038T>A c.7022T>A (p.Ile2341Asn) c.6944T>A (p.Ile2315Asn) c.4328T>A (p.Ile1443Asn) c.6929T>A (p.Ile2310Asn) c.143T>A (p.Ile48Asn) n.7041T>A | |
5 | g.90692678T>C | CA360371196 | ADGRV1 | c.7025T>C (p.Ile2342Thr) c.265+16469T>C (n.265+16469T>C) n.2484T>C c.832T>C n.169T>C c.4316T>C (p.Ile1439Thr) c.1754T>C n.7038T>C c.7022T>C (p.Ile2341Thr) c.6944T>C (p.Ile2315Thr) c.4328T>C (p.Ile1443Thr) c.6929T>C (p.Ile2310Thr) c.143T>C (p.Ile48Thr) n.7041T>C | gnomAD v4 |
5 | g.90692678T>G | CA360371197 | ADGRV1 | c.7025T>G (p.Ile2342Ser) c.265+16469T>G (n.265+16469T>G) n.2484T>G c.832T>G n.169T>G c.4316T>G (p.Ile1439Ser) c.1754T>G n.7038T>G c.7022T>G (p.Ile2341Ser) c.6944T>G (p.Ile2315Ser) c.4328T>G (p.Ile1443Ser) c.6929T>G (p.Ile2310Ser) c.143T>G (p.Ile48Ser) n.7041T>G | ClinVar dbSNP |
5 | g.90692679T>A | CA445404507 | ADGRV1 | c.7026T>A (p.Ile2342=) c.265+16470T>A (n.265+16470T>A) n.2485T>A c.833T>A n.170T>A c.4317T>A (p.Ile1439=) c.1755T>A n.7039T>A c.7023T>A (p.Ile2341=) c.6945T>A (p.Ile2315=) c.4329T>A (p.Ile1443=) c.6930T>A (p.Ile2310=) c.144T>A (p.Ile48=) n.7042T>A | |
5 | g.90692679T>C | CA3339951 | ADGRV1 | c.7026T>C (p.Ile2342=) c.265+16470T>C (n.265+16470T>C) n.2485T>C c.833T>C n.170T>C c.4317T>C (p.Ile1439=) c.1755T>C n.7039T>C c.7023T>C (p.Ile2341=) c.6945T>C (p.Ile2315=) c.4329T>C (p.Ile1443=) c.6930T>C (p.Ile2310=) c.144T>C (p.Ile48=) n.7042T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90692679T>G | CA360371209 | ADGRV1 | c.7026T>G (p.Ile2342Met) c.265+16470T>G (n.265+16470T>G) n.2485T>G c.833T>G n.170T>G c.4317T>G (p.Ile1439Met) c.1755T>G n.7039T>G c.7023T>G (p.Ile2341Met) c.6945T>G (p.Ile2315Met) c.4329T>G (p.Ile1443Met) c.6930T>G (p.Ile2310Met) c.144T>G (p.Ile48Met) n.7042T>G | |
5 | g.90692679T= | CA1562859276 | ADGRV1 | c.7026T= (p.Ile2342=) c.265+16470T= (n.265+16470T=) n.2485T= c.833T= n.170T= c.4317T= (p.Ile1439=) c.1755T= n.7039T= c.7023T= (p.Ile2341=) c.6945T= (p.Ile2315=) c.4329T= (p.Ile1443=) c.6930T= (p.Ile2310=) c.144T= (p.Ile48=) n.7042T= | |
5 | g.90692680C>A | CA360371213 | ADGRV1 | c.7027C>A (p.Pro2343Thr) c.265+16471C>A (n.265+16471C>A) n.2486C>A c.834C>A n.171C>A c.4318C>A (p.Pro1440Thr) c.1756C>A n.7040C>A c.7024C>A (p.Pro2342Thr) c.6946C>A (p.Pro2316Thr) c.4330C>A (p.Pro1444Thr) c.6931C>A (p.Pro2311Thr) c.145C>A (p.Pro49Thr) n.7043C>A | gnomAD v4 |
5 | g.90692680C= | CA1562859277 | ADGRV1 | c.7027C= (p.Pro2343=) c.265+16471C= (n.265+16471C=) n.2486C= c.834C= n.171C= c.4318C= (p.Pro1440=) c.1756C= n.7040C= c.7024C= (p.Pro2342=) c.6946C= (p.Pro2316=) c.4330C= (p.Pro1444=) c.6931C= (p.Pro2311=) c.145C= (p.Pro49=) n.7043C= | |
5 | g.90692680C>G | CA360371214 | ADGRV1 | c.7027C>G (p.Pro2343Ala) c.265+16471C>G (n.265+16471C>G) n.2486C>G c.834C>G n.171C>G c.4318C>G (p.Pro1440Ala) c.1756C>G n.7040C>G c.7024C>G (p.Pro2342Ala) c.6946C>G (p.Pro2316Ala) c.4330C>G (p.Pro1444Ala) c.6931C>G (p.Pro2311Ala) c.145C>G (p.Pro49Ala) n.7043C>G | dbSNP gnomAD v4 |
5 | g.90692680C>T | CA360371215 | ADGRV1 | c.7027C>T (p.Pro2343Ser) c.265+16471C>T (n.265+16471C>T) n.2486C>T c.834C>T n.171C>T c.4318C>T (p.Pro1440Ser) c.1756C>T n.7040C>T c.7024C>T (p.Pro2342Ser) c.6946C>T (p.Pro2316Ser) c.4330C>T (p.Pro1444Ser) c.6931C>T (p.Pro2311Ser) c.145C>T (p.Pro49Ser) n.7043C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692681C>A | CA360371216 | ADGRV1 | c.7028C>A (p.Pro2343His) c.265+16472C>A (n.265+16472C>A) n.2487C>A c.835C>A n.172C>A c.4319C>A (p.Pro1440His) c.1757C>A n.7041C>A c.7025C>A (p.Pro2342His) c.6947C>A (p.Pro2316His) c.4331C>A (p.Pro1444His) c.6932C>A (p.Pro2311His) c.146C>A (p.Pro49His) n.7044C>A | |
5 | g.90692681C= | CA1562859278 | ADGRV1 | c.7028C= (p.Pro2343=) c.265+16472C= (n.265+16472C=) n.2487C= c.835C= n.172C= c.4319C= (p.Pro1440=) c.1757C= n.7041C= c.7025C= (p.Pro2342=) c.6947C= (p.Pro2316=) c.4331C= (p.Pro1444=) c.6932C= (p.Pro2311=) c.146C= (p.Pro49=) n.7044C= | |
5 | g.90692681C>G | CA360371218 | ADGRV1 | c.7028C>G (p.Pro2343Arg) c.265+16472C>G (n.265+16472C>G) n.2487C>G c.835C>G n.172C>G c.4319C>G (p.Pro1440Arg) c.1757C>G n.7041C>G c.7025C>G (p.Pro2342Arg) c.6947C>G (p.Pro2316Arg) c.4331C>G (p.Pro1444Arg) c.6932C>G (p.Pro2311Arg) c.146C>G (p.Pro49Arg) n.7044C>G | |
5 | g.90692681C>T | CA360371219 | ADGRV1 | c.7028C>T (p.Pro2343Leu) c.265+16472C>T (n.265+16472C>T) n.2487C>T c.835C>T n.172C>T c.4319C>T (p.Pro1440Leu) c.1757C>T n.7041C>T c.7025C>T (p.Pro2342Leu) c.6947C>T (p.Pro2316Leu) c.4331C>T (p.Pro1444Leu) c.6932C>T (p.Pro2311Leu) c.146C>T (p.Pro49Leu) n.7044C>T | dbSNP gnomAD v2 |
5 | g.90692682T>A | CA445404508 | ADGRV1 | c.7029T>A (p.Pro2343=) c.265+16473T>A (n.265+16473T>A) n.2488T>A c.836T>A n.173T>A c.4320T>A (p.Pro1440=) c.1758T>A n.7042T>A c.7026T>A (p.Pro2342=) c.6948T>A (p.Pro2316=) c.4332T>A (p.Pro1444=) c.6933T>A (p.Pro2311=) c.147T>A (p.Pro49=) n.7045T>A | |
5 | g.90692682T>C | CA445404510 | ADGRV1 | c.7029T>C (p.Pro2343=) c.265+16473T>C (n.265+16473T>C) n.2488T>C c.836T>C n.173T>C c.4320T>C (p.Pro1440=) c.1758T>C n.7042T>C c.7026T>C (p.Pro2342=) c.6948T>C (p.Pro2316=) c.4332T>C (p.Pro1444=) c.6933T>C (p.Pro2311=) c.147T>C (p.Pro49=) n.7045T>C | |
5 | g.90692682T>G | CA445404509 | ADGRV1 | c.7029T>G (p.Pro2343=) c.265+16473T>G (n.265+16473T>G) n.2488T>G c.836T>G n.173T>G c.4320T>G (p.Pro1440=) c.1758T>G n.7042T>G c.7026T>G (p.Pro2342=) c.6948T>G (p.Pro2316=) c.4332T>G (p.Pro1444=) c.6933T>G (p.Pro2311=) c.147T>G (p.Pro49=) n.7045T>G | |
5 | g.90692683G>A | CA360371220 | ADGRV1 | c.7030G>A (p.Ala2344Thr) c.265+16474G>A (n.265+16474G>A) n.2489G>A c.837G>A n.174G>A c.4321G>A (p.Ala1441Thr) c.1759G>A n.7043G>A c.7027G>A (p.Ala2343Thr) c.6949G>A (p.Ala2317Thr) c.4333G>A (p.Ala1445Thr) c.6934G>A (p.Ala2312Thr) c.148G>A (p.Ala50Thr) n.7046G>A | |
5 | g.90692683G>C | CA360371225 | ADGRV1 | c.7030G>C (p.Ala2344Pro) c.265+16474G>C (n.265+16474G>C) n.2489G>C c.837G>C n.174G>C c.4321G>C (p.Ala1441Pro) c.1759G>C n.7043G>C c.7027G>C (p.Ala2343Pro) c.6949G>C (p.Ala2317Pro) c.4333G>C (p.Ala1445Pro) c.6934G>C (p.Ala2312Pro) c.148G>C (p.Ala50Pro) n.7046G>C | |
5 | g.90692683G= | CA1562859279 | ADGRV1 | c.7030G= (p.Ala2344=) c.265+16474G= (n.265+16474G=) n.2489G= c.837G= n.174G= c.4321G= (p.Ala1441=) c.1759G= n.7043G= c.7027G= (p.Ala2343=) c.6949G= (p.Ala2317=) c.4333G= (p.Ala1445=) c.6934G= (p.Ala2312=) c.148G= (p.Ala50=) n.7046G= | |
5 | g.90692683G>T | CA3339952 | ADGRV1 | c.7030G>T (p.Ala2344Ser) c.265+16474G>T (n.265+16474G>T) n.2489G>T c.837G>T n.174G>T c.4321G>T (p.Ala1441Ser) c.1759G>T n.7043G>T c.7027G>T (p.Ala2343Ser) c.6949G>T (p.Ala2317Ser) c.4333G>T (p.Ala1445Ser) c.6934G>T (p.Ala2312Ser) c.148G>T (p.Ala50Ser) n.7046G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692684C>A | CA360371228 | ADGRV1 | c.7031C>A (p.Ala2344Asp) c.265+16475C>A (n.265+16475C>A) n.2490C>A c.838C>A n.175C>A c.4322C>A (p.Ala1441Asp) c.1760C>A n.7044C>A c.7028C>A (p.Ala2343Asp) c.6950C>A (p.Ala2317Asp) c.4334C>A (p.Ala1445Asp) c.6935C>A (p.Ala2312Asp) c.149C>A (p.Ala50Asp) n.7047C>A | |
5 | g.90692684C= | CA1562859280 | ADGRV1 | c.7031C= (p.Ala2344=) c.265+16475C= (n.265+16475C=) n.2490C= c.838C= n.175C= c.4322C= (p.Ala1441=) c.1760C= n.7044C= c.7028C= (p.Ala2343=) c.6950C= (p.Ala2317=) c.4334C= (p.Ala1445=) c.6935C= (p.Ala2312=) c.149C= (p.Ala50=) n.7047C= | |
5 | g.90692684C>G | CA360371229 | ADGRV1 | c.7031C>G (p.Ala2344Gly) c.265+16475C>G (n.265+16475C>G) n.2490C>G c.838C>G n.175C>G c.4322C>G (p.Ala1441Gly) c.1760C>G n.7044C>G c.7028C>G (p.Ala2343Gly) c.6950C>G (p.Ala2317Gly) c.4334C>G (p.Ala1445Gly) c.6935C>G (p.Ala2312Gly) c.149C>G (p.Ala50Gly) n.7047C>G | |
5 | g.90692684C>T | CA3339953 | ADGRV1 | c.7031C>T (p.Ala2344Val) c.265+16475C>T (n.265+16475C>T) n.2490C>T c.838C>T n.175C>T c.4322C>T (p.Ala1441Val) c.1760C>T n.7044C>T c.7028C>T (p.Ala2343Val) c.6950C>T (p.Ala2317Val) c.4334C>T (p.Ala1445Val) c.6935C>T (p.Ala2312Val) c.149C>T (p.Ala50Val) n.7047C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90692685C>A | CA445404511 | ADGRV1 | c.7032C>A (p.Ala2344=) c.265+16476C>A (n.265+16476C>A) n.2491C>A c.839C>A n.176C>A c.4323C>A (p.Ala1441=) c.1761C>A n.7045C>A c.7029C>A (p.Ala2343=) c.6951C>A (p.Ala2317=) c.4335C>A (p.Ala1445=) c.6936C>A (p.Ala2312=) c.150C>A (p.Ala50=) n.7048C>A | |
5 | g.90692685C= | CA1562859281 | ADGRV1 | c.7032C= (p.Ala2344=) c.265+16476C= (n.265+16476C=) n.2491C= c.839C= n.176C= c.4323C= (p.Ala1441=) c.1761C= n.7045C= c.7029C= (p.Ala2343=) c.6951C= (p.Ala2317=) c.4335C= (p.Ala1445=) c.6936C= (p.Ala2312=) c.150C= (p.Ala50=) n.7048C= | |
5 | g.90692685C>G | CA445404512 | ADGRV1 | c.7032C>G (p.Ala2344=) c.265+16476C>G (n.265+16476C>G) n.2491C>G c.839C>G n.176C>G c.4323C>G (p.Ala1441=) c.1761C>G n.7045C>G c.7029C>G (p.Ala2343=) c.6951C>G (p.Ala2317=) c.4335C>G (p.Ala1445=) c.6936C>G (p.Ala2312=) c.150C>G (p.Ala50=) n.7048C>G | |
5 | g.90692685C>T | CA3339954 | ADGRV1 | c.7032C>T (p.Ala2344=) c.265+16476C>T (n.265+16476C>T) n.2491C>T c.839C>T n.176C>T c.4323C>T (p.Ala1441=) c.1761C>T n.7045C>T c.7029C>T (p.Ala2343=) c.6951C>T (p.Ala2317=) c.4335C>T (p.Ala1445=) c.6936C>T (p.Ala2312=) c.150C>T (p.Ala50=) n.7048C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692686A>C | CA360371257 | ADGRV1 | c.7033A>C (p.Asn2345His) c.265+16477A>C (n.265+16477A>C) n.2492A>C c.840A>C n.177A>C c.4324A>C (p.Asn1442His) c.1762A>C n.7046A>C c.7030A>C (p.Asn2344His) c.6952A>C (p.Asn2318His) c.4336A>C (p.Asn1446His) c.6937A>C (p.Asn2313His) c.151A>C (p.Asn51His) n.7049A>C | |
5 | g.90692686A>G | CA360371246 | ADGRV1 | c.7033A>G (p.Asn2345Asp) c.265+16477A>G (n.265+16477A>G) n.2492A>G c.840A>G n.177A>G c.4324A>G (p.Asn1442Asp) c.1762A>G n.7046A>G c.7030A>G (p.Asn2344Asp) c.6952A>G (p.Asn2318Asp) c.4336A>G (p.Asn1446Asp) c.6937A>G (p.Asn2313Asp) c.151A>G (p.Asn51Asp) n.7049A>G | gnomAD v4 |
5 | g.90692686A>T | CA360371253 | ADGRV1 | c.7033A>T (p.Asn2345Tyr) c.265+16477A>T (n.265+16477A>T) n.2492A>T c.840A>T n.177A>T c.4324A>T (p.Asn1442Tyr) c.1762A>T n.7046A>T c.7030A>T (p.Asn2344Tyr) c.6952A>T (p.Asn2318Tyr) c.4336A>T (p.Asn1446Tyr) c.6937A>T (p.Asn2313Tyr) c.151A>T (p.Asn51Tyr) n.7049A>T | |
5 | g.90692687A= | CA1562859282 | ADGRV1 | c.7034A= (p.Asn2345=) c.265+16478A= (n.265+16478A=) n.2493A= c.841A= n.178A= c.4325A= (p.Asn1442=) c.1763A= n.7047A= c.7031A= (p.Asn2344=) c.6953A= (p.Asn2318=) c.4337A= (p.Asn1446=) c.6938A= (p.Asn2313=) c.152A= (p.Asn51=) n.7050A= | |
5 | g.90692687A>C | CA360371260 | ADGRV1 | c.7034A>C (p.Asn2345Thr) c.265+16478A>C (n.265+16478A>C) n.2493A>C c.841A>C n.178A>C c.4325A>C (p.Asn1442Thr) c.1763A>C n.7047A>C c.7031A>C (p.Asn2344Thr) c.6953A>C (p.Asn2318Thr) c.4337A>C (p.Asn1446Thr) c.6938A>C (p.Asn2313Thr) c.152A>C (p.Asn51Thr) n.7050A>C | gnomAD v4 |
5 | g.90692687A>G | CA138190 | ADGRV1 | c.7034A>G (p.Asn2345Ser) c.265+16478A>G (n.265+16478A>G) n.2493A>G c.841A>G n.178A>G c.4325A>G (p.Asn1442Ser) c.1763A>G n.7047A>G c.7031A>G (p.Asn2344Ser) c.6953A>G (p.Asn2318Ser) c.4337A>G (p.Asn1446Ser) c.6938A>G (p.Asn2313Ser) c.152A>G (p.Asn51Ser) n.7050A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692687A>T | CA360371273 | ADGRV1 | c.7034A>T (p.Asn2345Ile) c.265+16478A>T (n.265+16478A>T) n.2493A>T c.841A>T n.178A>T c.4325A>T (p.Asn1442Ile) c.1763A>T n.7047A>T c.7031A>T (p.Asn2344Ile) c.6953A>T (p.Asn2318Ile) c.4337A>T (p.Asn1446Ile) c.6938A>T (p.Asn2313Ile) c.152A>T (p.Asn51Ile) n.7050A>T | ClinVar dbSNP gnomAD v4 |
5 | g.90692688T>A | CA360371277 | ADGRV1 | c.7035T>A (p.Asn2345Lys) c.265+16479T>A (n.265+16479T>A) n.2494T>A c.842T>A n.179T>A c.4326T>A (p.Asn1442Lys) c.1764T>A n.7048T>A c.7032T>A (p.Asn2344Lys) c.6954T>A (p.Asn2318Lys) c.4338T>A (p.Asn1446Lys) c.6939T>A (p.Asn2313Lys) c.153T>A (p.Asn51Lys) n.7051T>A | |
5 | g.90692688T>C | CA445404513 | ADGRV1 | c.7035T>C (p.Asn2345=) c.265+16479T>C (n.265+16479T>C) n.2494T>C c.842T>C n.179T>C c.4326T>C (p.Asn1442=) c.1764T>C n.7048T>C c.7032T>C (p.Asn2344=) c.6954T>C (p.Asn2318=) c.4338T>C (p.Asn1446=) c.6939T>C (p.Asn2313=) c.153T>C (p.Asn51=) n.7051T>C | gnomAD v4 |
5 | g.90692688T>G | CA360371279 | ADGRV1 | c.7035T>G (p.Asn2345Lys) c.265+16479T>G (n.265+16479T>G) n.2494T>G c.842T>G n.179T>G c.4326T>G (p.Asn1442Lys) c.1764T>G n.7048T>G c.7032T>G (p.Asn2344Lys) c.6954T>G (p.Asn2318Lys) c.4338T>G (p.Asn1446Lys) c.6939T>G (p.Asn2313Lys) c.153T>G (p.Asn51Lys) n.7051T>G | |
5 | g.90692689G>A | CA360371283 | ADGRV1 | c.7036G>A (p.Asp2346Asn) c.265+16480G>A (n.265+16480G>A) n.2495G>A c.843G>A n.180G>A c.4327G>A (p.Asp1443Asn) c.1765G>A n.7049G>A c.7033G>A (p.Asp2345Asn) c.6955G>A (p.Asp2319Asn) c.4339G>A (p.Asp1447Asn) c.6940G>A (p.Asp2314Asn) c.154G>A (p.Asp52Asn) n.7052G>A | |
5 | g.90692689G>C | CA360371286 | ADGRV1 | c.7036G>C (p.Asp2346His) c.265+16480G>C (n.265+16480G>C) n.2495G>C c.843G>C n.180G>C c.4327G>C (p.Asp1443His) c.1765G>C n.7049G>C c.7033G>C (p.Asp2345His) c.6955G>C (p.Asp2319His) c.4339G>C (p.Asp1447His) c.6940G>C (p.Asp2314His) c.154G>C (p.Asp52His) n.7052G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90692689G= | CA1562859283 | ADGRV1 | c.7036G= (p.Asp2346=) c.265+16480G= (n.265+16480G=) n.2495G= c.843G= n.180G= c.4327G= (p.Asp1443=) c.1765G= n.7049G= c.7033G= (p.Asp2345=) c.6955G= (p.Asp2319=) c.4339G= (p.Asp1447=) c.6940G= (p.Asp2314=) c.154G= (p.Asp52=) n.7052G= | |
5 | g.90692689G>T | CA360371287 | ADGRV1 | c.7036G>T (p.Asp2346Tyr) c.265+16480G>T (n.265+16480G>T) n.2495G>T c.843G>T n.180G>T c.4327G>T (p.Asp1443Tyr) c.1765G>T n.7049G>T c.7033G>T (p.Asp2345Tyr) c.6955G>T (p.Asp2319Tyr) c.4339G>T (p.Asp1447Tyr) c.6940G>T (p.Asp2314Tyr) c.154G>T (p.Asp52Tyr) n.7052G>T | |
5 | g.90692690A>C | CA360371291 | ADGRV1 | c.7037A>C (p.Asp2346Ala) c.265+16481A>C (n.265+16481A>C) n.2496A>C c.844A>C n.181A>C c.4328A>C (p.Asp1443Ala) c.1766A>C n.7050A>C c.7034A>C (p.Asp2345Ala) c.6956A>C (p.Asp2319Ala) c.4340A>C (p.Asp1447Ala) c.6941A>C (p.Asp2314Ala) c.155A>C (p.Asp52Ala) n.7053A>C | |
5 | g.90692690A>G | CA360371296 | ADGRV1 | c.7037A>G (p.Asp2346Gly) c.265+16481A>G (n.265+16481A>G) n.2496A>G c.844A>G n.181A>G c.4328A>G (p.Asp1443Gly) c.1766A>G n.7050A>G c.7034A>G (p.Asp2345Gly) c.6956A>G (p.Asp2319Gly) c.4340A>G (p.Asp1447Gly) c.6941A>G (p.Asp2314Gly) c.155A>G (p.Asp52Gly) n.7053A>G | gnomAD v4 |
5 | g.90692690A>T | CA360371299 | ADGRV1 | c.7037A>T (p.Asp2346Val) c.265+16481A>T (n.265+16481A>T) n.2496A>T c.844A>T n.181A>T c.4328A>T (p.Asp1443Val) c.1766A>T n.7050A>T c.7034A>T (p.Asp2345Val) c.6956A>T (p.Asp2319Val) c.4340A>T (p.Asp1447Val) c.6941A>T (p.Asp2314Val) c.155A>T (p.Asp52Val) n.7053A>T | |
5 | g.90692691T>A | CA360371300 | ADGRV1 | c.7038T>A (p.Asp2346Glu) c.265+16482T>A (n.265+16482T>A) n.2497T>A c.845T>A n.182T>A c.4329T>A (p.Asp1443Glu) c.1767T>A n.7051T>A c.7035T>A (p.Asp2345Glu) c.6957T>A (p.Asp2319Glu) c.4341T>A (p.Asp1447Glu) c.6942T>A (p.Asp2314Glu) c.156T>A (p.Asp52Glu) n.7054T>A | |
5 | g.90692691T>C | CA445404514 | ADGRV1 | c.7038T>C (p.Asp2346=) c.265+16482T>C (n.265+16482T>C) n.2497T>C c.845T>C n.182T>C c.4329T>C (p.Asp1443=) c.1767T>C n.7051T>C c.7035T>C (p.Asp2345=) c.6957T>C (p.Asp2319=) c.4341T>C (p.Asp1447=) c.6942T>C (p.Asp2314=) c.156T>C (p.Asp52=) n.7054T>C | |
5 | g.90692691T>G | CA360371301 | ADGRV1 | c.7038T>G (p.Asp2346Glu) c.265+16482T>G (n.265+16482T>G) n.2497T>G c.845T>G n.182T>G c.4329T>G (p.Asp1443Glu) c.1767T>G n.7051T>G c.7035T>G (p.Asp2345Glu) c.6957T>G (p.Asp2319Glu) c.4341T>G (p.Asp1447Glu) c.6942T>G (p.Asp2314Glu) c.156T>G (p.Asp52Glu) n.7054T>G | |
5 | g.90692692G>A | CA360371326 | ADGRV1 | c.7039G>A (p.Asp2347Asn) c.265+16483G>A (n.265+16483G>A) n.2498G>A c.846G>A n.183G>A c.4330G>A (p.Asp1444Asn) c.1768G>A n.7052G>A c.7036G>A (p.Asp2346Asn) c.6958G>A (p.Asp2320Asn) c.4342G>A (p.Asp1448Asn) c.6943G>A (p.Asp2315Asn) c.157G>A (p.Asp53Asn) n.7055G>A | dbSNP gnomAD v4 COSMIC |
5 | g.90692692G>C | CA360371332 | ADGRV1 | c.7039G>C (p.Asp2347His) c.265+16483G>C (n.265+16483G>C) n.2498G>C c.846G>C n.183G>C c.4330G>C (p.Asp1444His) c.1768G>C n.7052G>C c.7036G>C (p.Asp2346His) c.6958G>C (p.Asp2320His) c.4342G>C (p.Asp1448His) c.6943G>C (p.Asp2315His) c.157G>C (p.Asp53His) n.7055G>C | |
5 | g.90692692G>T | CA360371331 | ADGRV1 | c.7039G>T (p.Asp2347Tyr) c.265+16483G>T (n.265+16483G>T) n.2498G>T c.846G>T n.183G>T c.4330G>T (p.Asp1444Tyr) c.1768G>T n.7052G>T c.7036G>T (p.Asp2346Tyr) c.6958G>T (p.Asp2320Tyr) c.4342G>T (p.Asp1448Tyr) c.6943G>T (p.Asp2315Tyr) c.157G>T (p.Asp53Tyr) n.7055G>T | |
5 | g.90692693A>C | CA360371335 | ADGRV1 | c.7040A>C (p.Asp2347Ala) c.265+16484A>C (n.265+16484A>C) n.2499A>C c.847A>C n.184A>C c.4331A>C (p.Asp1444Ala) c.1769A>C n.7053A>C c.7037A>C (p.Asp2346Ala) c.6959A>C (p.Asp2320Ala) c.4343A>C (p.Asp1448Ala) c.6944A>C (p.Asp2315Ala) c.158A>C (p.Asp53Ala) n.7056A>C | |
5 | g.90692693A>G | CA360371337 | ADGRV1 | c.7040A>G (p.Asp2347Gly) c.265+16484A>G (n.265+16484A>G) n.2499A>G c.847A>G n.184A>G c.4331A>G (p.Asp1444Gly) c.1769A>G n.7053A>G c.7037A>G (p.Asp2346Gly) c.6959A>G (p.Asp2320Gly) c.4343A>G (p.Asp1448Gly) c.6944A>G (p.Asp2315Gly) c.158A>G (p.Asp53Gly) n.7056A>G | |
5 | g.90692693A>T | CA360371338 | ADGRV1 | c.7040A>T (p.Asp2347Val) c.265+16484A>T (n.265+16484A>T) n.2499A>T c.847A>T n.184A>T c.4331A>T (p.Asp1444Val) c.1769A>T n.7053A>T c.7037A>T (p.Asp2346Val) c.6959A>T (p.Asp2320Val) c.4343A>T (p.Asp1448Val) c.6944A>T (p.Asp2315Val) c.158A>T (p.Asp53Val) n.7056A>T | |
5 | g.90692694T>A | CA3339955 | ADGRV1 | c.7041T>A (p.Asp2347Glu) c.265+16485T>A (n.265+16485T>A) n.2500T>A c.848T>A n.185T>A c.4332T>A (p.Asp1444Glu) c.1770T>A n.7054T>A c.7038T>A (p.Asp2346Glu) c.6960T>A (p.Asp2320Glu) c.4344T>A (p.Asp1448Glu) c.6945T>A (p.Asp2315Glu) c.159T>A (p.Asp53Glu) n.7057T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692694T>C | CA445404515 | ADGRV1 | c.7041T>C (p.Asp2347=) c.265+16485T>C (n.265+16485T>C) n.2500T>C c.848T>C n.185T>C c.4332T>C (p.Asp1444=) c.1770T>C n.7054T>C c.7038T>C (p.Asp2346=) c.6960T>C (p.Asp2320=) c.4344T>C (p.Asp1448=) c.6945T>C (p.Asp2315=) c.159T>C (p.Asp53=) n.7057T>C | |
5 | g.90692694T>G | CA360371348 | ADGRV1 | c.7041T>G (p.Asp2347Glu) c.265+16485T>G (n.265+16485T>G) n.2500T>G c.848T>G n.185T>G c.4332T>G (p.Asp1444Glu) c.1770T>G n.7054T>G c.7038T>G (p.Asp2346Glu) c.6960T>G (p.Asp2320Glu) c.4344T>G (p.Asp1448Glu) c.6945T>G (p.Asp2315Glu) c.159T>G (p.Asp53Glu) n.7057T>G | ClinVar |
5 | g.90692694T= | CA1562859284 | ADGRV1 | c.7041T= (p.Asp2347=) c.265+16485T= (n.265+16485T=) n.2500T= c.848T= n.185T= c.4332T= (p.Asp1444=) c.1770T= n.7054T= c.7038T= (p.Asp2346=) c.6960T= (p.Asp2320=) c.4344T= (p.Asp1448=) c.6945T= (p.Asp2315=) c.159T= (p.Asp53=) n.7057T= | |
5 | g.90692695C>A | CA360371357 | ADGRV1 | c.7042C>A (p.Pro2348Thr) c.265+16486C>A (n.265+16486C>A) n.2501C>A c.849C>A n.186C>A c.4333C>A (p.Pro1445Thr) c.1771C>A n.7055C>A c.7039C>A (p.Pro2347Thr) c.6961C>A (p.Pro2321Thr) c.4345C>A (p.Pro1449Thr) c.6946C>A (p.Pro2316Thr) c.160C>A (p.Pro54Thr) n.7058C>A | |
5 | g.90692695C= | CA1562859285 | ADGRV1 | c.7042C= (p.Pro2348=) c.265+16486C= (n.265+16486C=) n.2501C= c.849C= n.186C= c.4333C= (p.Pro1445=) c.1771C= n.7055C= c.7039C= (p.Pro2347=) c.6961C= (p.Pro2321=) c.4345C= (p.Pro1449=) c.6946C= (p.Pro2316=) c.160C= (p.Pro54=) n.7058C= | |
5 | g.90692695C>G | CA360371355 | ADGRV1 | c.7042C>G (p.Pro2348Ala) c.265+16486C>G (n.265+16486C>G) n.2501C>G c.849C>G n.186C>G c.4333C>G (p.Pro1445Ala) c.1771C>G n.7055C>G c.7039C>G (p.Pro2347Ala) c.6961C>G (p.Pro2321Ala) c.4345C>G (p.Pro1449Ala) c.6946C>G (p.Pro2316Ala) c.160C>G (p.Pro54Ala) n.7058C>G | |
5 | g.90692695C>T | CA360371353 | ADGRV1 | c.7042C>T (p.Pro2348Ser) c.265+16486C>T (n.265+16486C>T) n.2501C>T c.849C>T n.186C>T c.4333C>T (p.Pro1445Ser) c.1771C>T n.7055C>T c.7039C>T (p.Pro2347Ser) c.6961C>T (p.Pro2321Ser) c.4345C>T (p.Pro1449Ser) c.6946C>T (p.Pro2316Ser) c.160C>T (p.Pro54Ser) n.7058C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692695_90692696delinsTT | CA645559071 | ADGRV1 | c.7042_7043delinsTT (p.Pro2348Phe) c.265+16486_265+16487delinsTT (n.265+16486_265+16487delinsTT) n.2501_2502delinsTT c.849_850delinsTT n.186_187delinsTT c.4333_4334delinsTT (p.Pro1445Phe) c.1771_1772delinsTT n.7055_7056delinsTT c.7039_7040delinsTT (p.Pro2347Phe) c.6961_6962delinsTT (p.Pro2321Phe) c.4345_4346delinsTT (p.Pro1449Phe) c.6946_6947delinsTT (p.Pro2316Phe) c.160_161delinsTT (p.Pro54Phe) n.7058_7059delinsTT | COSMIC |
5 | g.90692696C>A | CA360371358 | ADGRV1 | c.7043C>A (p.Pro2348His) c.265+16487C>A (n.265+16487C>A) n.2502C>A c.850C>A n.187C>A c.4334C>A (p.Pro1445His) c.1772C>A n.7056C>A c.7040C>A (p.Pro2347His) c.6962C>A (p.Pro2321His) c.4346C>A (p.Pro1449His) c.6947C>A (p.Pro2316His) c.161C>A (p.Pro54His) n.7059C>A | gnomAD v4 |
5 | g.90692696C>G | CA360371362 | ADGRV1 | c.7043C>G (p.Pro2348Arg) c.265+16487C>G (n.265+16487C>G) n.2502C>G c.850C>G n.187C>G c.4334C>G (p.Pro1445Arg) c.1772C>G n.7056C>G c.7040C>G (p.Pro2347Arg) c.6962C>G (p.Pro2321Arg) c.4346C>G (p.Pro1449Arg) c.6947C>G (p.Pro2316Arg) c.161C>G (p.Pro54Arg) n.7059C>G | |
5 | g.90692696C>T | CA360371365 | ADGRV1 | c.7043C>T (p.Pro2348Leu) c.265+16487C>T (n.265+16487C>T) n.2502C>T c.850C>T n.187C>T c.4334C>T (p.Pro1445Leu) c.1772C>T n.7056C>T c.7040C>T (p.Pro2347Leu) c.6962C>T (p.Pro2321Leu) c.4346C>T (p.Pro1449Leu) c.6947C>T (p.Pro2316Leu) c.161C>T (p.Pro54Leu) n.7059C>T | gnomAD v4 |
5 | g.90692697T>A | CA445404516 | ADGRV1 | c.7044T>A (p.Pro2348=) c.265+16488T>A (n.265+16488T>A) n.2503T>A c.851T>A n.188T>A c.4335T>A (p.Pro1445=) c.1773T>A n.7057T>A c.7041T>A (p.Pro2347=) c.6963T>A (p.Pro2321=) c.4347T>A (p.Pro1449=) c.6948T>A (p.Pro2316=) c.162T>A (p.Pro54=) n.7060T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692697T>C | CA445404518 | ADGRV1 | c.7044T>C (p.Pro2348=) c.265+16488T>C (n.265+16488T>C) n.2503T>C c.851T>C n.188T>C c.4335T>C (p.Pro1445=) c.1773T>C n.7057T>C c.7041T>C (p.Pro2347=) c.6963T>C (p.Pro2321=) c.4347T>C (p.Pro1449=) c.6948T>C (p.Pro2316=) c.162T>C (p.Pro54=) n.7060T>C | |
5 | g.90692697T>G | CA445404517 | ADGRV1 | c.7044T>G (p.Pro2348=) c.265+16488T>G (n.265+16488T>G) n.2503T>G c.851T>G n.188T>G c.4335T>G (p.Pro1445=) c.1773T>G n.7057T>G c.7041T>G (p.Pro2347=) c.6963T>G (p.Pro2321=) c.4347T>G (p.Pro1449=) c.6948T>G (p.Pro2316=) c.162T>G (p.Pro54=) n.7060T>G | |
5 | g.90692697T= | CA1562859286 | ADGRV1 | c.7044T= (p.Pro2348=) c.265+16488T= (n.265+16488T=) n.2503T= c.851T= n.188T= c.4335T= (p.Pro1445=) c.1773T= n.7057T= c.7041T= (p.Pro2347=) c.6963T= (p.Pro2321=) c.4347T= (p.Pro1449=) c.6948T= (p.Pro2316=) c.162T= (p.Pro54=) n.7060T= | |
5 | g.90692698T>A | CA360371369 | ADGRV1 | c.7045T>A (p.Tyr2349Asn) c.265+16489T>A (n.265+16489T>A) n.2504T>A c.852T>A n.189T>A c.4336T>A (p.Tyr1446Asn) c.1774T>A n.7058T>A c.7042T>A (p.Tyr2348Asn) c.6964T>A (p.Tyr2322Asn) c.4348T>A (p.Tyr1450Asn) c.6949T>A (p.Tyr2317Asn) c.163T>A (p.Tyr55Asn) n.7061T>A | |
5 | g.90692698T>C | CA360371370 | ADGRV1 | c.7045T>C (p.Tyr2349His) c.265+16489T>C (n.265+16489T>C) n.2504T>C c.852T>C n.189T>C c.4336T>C (p.Tyr1446His) c.1774T>C n.7058T>C c.7042T>C (p.Tyr2348His) c.6964T>C (p.Tyr2322His) c.4348T>C (p.Tyr1450His) c.6949T>C (p.Tyr2317His) c.163T>C (p.Tyr55His) n.7061T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692698T>G | CA360371371 | ADGRV1 | c.7045T>G (p.Tyr2349Asp) c.265+16489T>G (n.265+16489T>G) n.2504T>G c.852T>G n.189T>G c.4336T>G (p.Tyr1446Asp) c.1774T>G n.7058T>G c.7042T>G (p.Tyr2348Asp) c.6964T>G (p.Tyr2322Asp) c.4348T>G (p.Tyr1450Asp) c.6949T>G (p.Tyr2317Asp) c.163T>G (p.Tyr55Asp) n.7061T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692698T= | CA1562859287 | ADGRV1 | c.7045T= (p.Tyr2349=) c.265+16489T= (n.265+16489T=) n.2504T= c.852T= n.189T= c.4336T= (p.Tyr1446=) c.1774T= n.7058T= c.7042T= (p.Tyr2348=) c.6964T= (p.Tyr2322=) c.4348T= (p.Tyr1450=) c.6949T= (p.Tyr2317=) c.163T= (p.Tyr55=) n.7061T= | |
5 | g.90692699A= | CA1562859288 | ADGRV1 | c.7046A= (p.Tyr2349=) c.265+16490A= (n.265+16490A=) n.2505A= c.853A= n.190A= c.4337A= (p.Tyr1446=) c.1775A= n.7059A= c.7043A= (p.Tyr2348=) c.6965A= (p.Tyr2322=) c.4349A= (p.Tyr1450=) c.6950A= (p.Tyr2317=) c.164A= (p.Tyr55=) n.7062A= | |
5 | g.90692699A>C | CA360371372 | ADGRV1 | c.7046A>C (p.Tyr2349Ser) c.265+16490A>C (n.265+16490A>C) n.2505A>C c.853A>C n.190A>C c.4337A>C (p.Tyr1446Ser) c.1775A>C n.7059A>C c.7043A>C (p.Tyr2348Ser) c.6965A>C (p.Tyr2322Ser) c.4349A>C (p.Tyr1450Ser) c.6950A>C (p.Tyr2317Ser) c.164A>C (p.Tyr55Ser) n.7062A>C | |
5 | g.90692699A>G | CA3339956 | ADGRV1 | c.7046A>G (p.Tyr2349Cys) c.265+16490A>G (n.265+16490A>G) n.2505A>G c.853A>G n.190A>G c.4337A>G (p.Tyr1446Cys) c.1775A>G n.7059A>G c.7043A>G (p.Tyr2348Cys) c.6965A>G (p.Tyr2322Cys) c.4349A>G (p.Tyr1450Cys) c.6950A>G (p.Tyr2317Cys) c.164A>G (p.Tyr55Cys) n.7062A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692699A>T | CA360371374 | ADGRV1 | c.7046A>T (p.Tyr2349Phe) c.265+16490A>T (n.265+16490A>T) n.2505A>T c.853A>T n.190A>T c.4337A>T (p.Tyr1446Phe) c.1775A>T n.7059A>T c.7043A>T (p.Tyr2348Phe) c.6965A>T (p.Tyr2322Phe) c.4349A>T (p.Tyr1450Phe) c.6950A>T (p.Tyr2317Phe) c.164A>T (p.Tyr55Phe) n.7062A>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692700T>A | CA360371379 | ADGRV1 | c.7047T>A (p.Tyr2349Ter) c.265+16491T>A (n.265+16491T>A) n.2506T>A c.854T>A n.191T>A c.4338T>A (p.Tyr1446Ter) c.1776T>A n.7060T>A c.7044T>A (p.Tyr2348Ter) c.6966T>A (p.Tyr2322Ter) c.4350T>A (p.Tyr1450Ter) c.6951T>A (p.Tyr2317Ter) c.165T>A (p.Tyr55Ter) n.7063T>A | |
5 | g.90692700T>C | CA122797188 | ADGRV1 | c.7047T>C (p.Tyr2349=) c.265+16491T>C (n.265+16491T>C) n.2506T>C c.854T>C n.191T>C c.4338T>C (p.Tyr1446=) c.1776T>C n.7060T>C c.7044T>C (p.Tyr2348=) c.6966T>C (p.Tyr2322=) c.4350T>C (p.Tyr1450=) c.6951T>C (p.Tyr2317=) c.165T>C (p.Tyr55=) n.7063T>C | ClinVar dbSNP |
5 | g.90692700T>G | CA360371383 | ADGRV1 | c.7047T>G (p.Tyr2349Ter) c.265+16491T>G (n.265+16491T>G) n.2506T>G c.854T>G n.191T>G c.4338T>G (p.Tyr1446Ter) c.1776T>G n.7060T>G c.7044T>G (p.Tyr2348Ter) c.6966T>G (p.Tyr2322Ter) c.4350T>G (p.Tyr1450Ter) c.6951T>G (p.Tyr2317Ter) c.165T>G (p.Tyr55Ter) n.7063T>G | |
5 | g.90692700T= | CA1562859289 | ADGRV1 | c.7047T= (p.Tyr2349=) c.265+16491T= (n.265+16491T=) n.2506T= c.854T= n.191T= c.4338T= (p.Tyr1446=) c.1776T= n.7060T= c.7044T= (p.Tyr2348=) c.6966T= (p.Tyr2322=) c.4350T= (p.Tyr1450=) c.6951T= (p.Tyr2317=) c.165T= (p.Tyr55=) n.7063T= | |
5 | g.90692701G>A | CA360371389 | ADGRV1 | c.7048G>A (p.Gly2350Ser) c.265+16492G>A (n.265+16492G>A) n.2507G>A c.855G>A n.192G>A c.4339G>A (p.Gly1447Ser) c.1777G>A n.7061G>A c.7045G>A (p.Gly2349Ser) c.6967G>A (p.Gly2323Ser) c.4351G>A (p.Gly1451Ser) c.6952G>A (p.Gly2318Ser) c.166G>A (p.Gly56Ser) n.7064G>A | |
5 | g.90692701G>C | CA360371392 | ADGRV1 | c.7048G>C (p.Gly2350Arg) c.265+16492G>C (n.265+16492G>C) n.2507G>C c.855G>C n.192G>C c.4339G>C (p.Gly1447Arg) c.1777G>C n.7061G>C c.7045G>C (p.Gly2349Arg) c.6967G>C (p.Gly2323Arg) c.4351G>C (p.Gly1451Arg) c.6952G>C (p.Gly2318Arg) c.166G>C (p.Gly56Arg) n.7064G>C | |
5 | g.90692701G= | CA1562859290 | ADGRV1 | c.7048G= (p.Gly2350=) c.265+16492G= (n.265+16492G=) n.2507G= c.855G= n.192G= c.4339G= (p.Gly1447=) c.1777G= n.7061G= c.7045G= (p.Gly2349=) c.6967G= (p.Gly2323=) c.4351G= (p.Gly1451=) c.6952G= (p.Gly2318=) c.166G= (p.Gly56=) n.7064G= | |
5 | g.90692701G>T | CA360371399 | ADGRV1 | c.7048G>T (p.Gly2350Cys) c.265+16492G>T (n.265+16492G>T) n.2507G>T c.855G>T n.192G>T c.4339G>T (p.Gly1447Cys) c.1777G>T n.7061G>T c.7045G>T (p.Gly2349Cys) c.6967G>T (p.Gly2323Cys) c.4351G>T (p.Gly1451Cys) c.6952G>T (p.Gly2318Cys) c.166G>T (p.Gly56Cys) n.7064G>T | dbSNP gnomAD v4 |
5 | g.90692702G>A | CA360371409 | ADGRV1 | c.7049G>A (p.Gly2350Asp) c.265+16493G>A (n.265+16493G>A) n.2508G>A c.856G>A n.193G>A c.4340G>A (p.Gly1447Asp) c.1778G>A n.7062G>A c.7046G>A (p.Gly2349Asp) c.6968G>A (p.Gly2323Asp) c.4352G>A (p.Gly1451Asp) c.6953G>A (p.Gly2318Asp) c.167G>A (p.Gly56Asp) n.7065G>A | ClinVar |
5 | g.90692702G>C | CA360371413 | ADGRV1 | c.7049G>C (p.Gly2350Ala) c.265+16493G>C (n.265+16493G>C) n.2508G>C c.856G>C n.193G>C c.4340G>C (p.Gly1447Ala) c.1778G>C n.7062G>C c.7046G>C (p.Gly2349Ala) c.6968G>C (p.Gly2323Ala) c.4352G>C (p.Gly1451Ala) c.6953G>C (p.Gly2318Ala) c.167G>C (p.Gly56Ala) n.7065G>C | |
5 | g.90692702G= | CA1562859291 | ADGRV1 | c.7049G= (p.Gly2350=) c.265+16493G= (n.265+16493G=) n.2508G= c.856G= n.193G= c.4340G= (p.Gly1447=) c.1778G= n.7062G= c.7046G= (p.Gly2349=) c.6968G= (p.Gly2323=) c.4352G= (p.Gly1451=) c.6953G= (p.Gly2318=) c.167G= (p.Gly56=) n.7065G= | |
5 | g.90692702G>T | CA360371421 | ADGRV1 | c.7049G>T (p.Gly2350Val) c.265+16493G>T (n.265+16493G>T) n.2508G>T c.856G>T n.193G>T c.4340G>T (p.Gly1447Val) c.1778G>T n.7062G>T c.7046G>T (p.Gly2349Val) c.6968G>T (p.Gly2323Val) c.4352G>T (p.Gly1451Val) c.6953G>T (p.Gly2318Val) c.167G>T (p.Gly56Val) n.7065G>T | dbSNP gnomAD v2 |
5 | g.90692703T>A | CA445404519 | ADGRV1 | c.7050T>A (p.Gly2350=) c.265+16494T>A (n.265+16494T>A) n.2509T>A c.857T>A n.194T>A c.4341T>A (p.Gly1447=) c.1779T>A n.7063T>A c.7047T>A (p.Gly2349=) c.6969T>A (p.Gly2323=) c.4353T>A (p.Gly1451=) c.6954T>A (p.Gly2318=) c.168T>A (p.Gly56=) n.7066T>A | |
5 | g.90692703T>C | CA445404521 | ADGRV1 | c.7050T>C (p.Gly2350=) c.265+16494T>C (n.265+16494T>C) n.2509T>C c.857T>C n.194T>C c.4341T>C (p.Gly1447=) c.1779T>C n.7063T>C c.7047T>C (p.Gly2349=) c.6969T>C (p.Gly2323=) c.4353T>C (p.Gly1451=) c.6954T>C (p.Gly2318=) c.168T>C (p.Gly56=) n.7066T>C | |
5 | g.90692703T>G | CA445404520 | ADGRV1 | c.7050T>G (p.Gly2350=) c.265+16494T>G (n.265+16494T>G) n.2509T>G c.857T>G n.194T>G c.4341T>G (p.Gly1447=) c.1779T>G n.7063T>G c.7047T>G (p.Gly2349=) c.6969T>G (p.Gly2323=) c.4353T>G (p.Gly1451=) c.6954T>G (p.Gly2318=) c.168T>G (p.Gly56=) n.7066T>G | |
5 | g.90692704A= | CA1562859292 | ADGRV1 | c.7051A= (p.Thr2351=) c.265+16495A= (n.265+16495A=) n.2510A= c.858A= n.195A= c.4342A= (p.Thr1448=) c.1780A= n.7064A= c.7048A= (p.Thr2350=) c.6970A= (p.Thr2324=) c.4354A= (p.Thr1452=) c.6955A= (p.Thr2319=) c.169A= (p.Thr57=) n.7067A= | |
5 | g.90692704A>C | CA360371424 | ADGRV1 | c.7051A>C (p.Thr2351Pro) c.265+16495A>C (n.265+16495A>C) n.2510A>C c.858A>C n.195A>C c.4342A>C (p.Thr1448Pro) c.1780A>C n.7064A>C c.7048A>C (p.Thr2350Pro) c.6970A>C (p.Thr2324Pro) c.4354A>C (p.Thr1452Pro) c.6955A>C (p.Thr2319Pro) c.169A>C (p.Thr57Pro) n.7067A>C | gnomAD v4 |
5 | g.90692704A>G | CA360371426 | ADGRV1 | c.7051A>G (p.Thr2351Ala) c.265+16495A>G (n.265+16495A>G) n.2510A>G c.858A>G n.195A>G c.4342A>G (p.Thr1448Ala) c.1780A>G n.7064A>G c.7048A>G (p.Thr2350Ala) c.6970A>G (p.Thr2324Ala) c.4354A>G (p.Thr1452Ala) c.6955A>G (p.Thr2319Ala) c.169A>G (p.Thr57Ala) n.7067A>G | |
5 | g.90692704A>T | CA3339957 | ADGRV1 | c.7051A>T (p.Thr2351Ser) c.265+16495A>T (n.265+16495A>T) n.2510A>T c.858A>T n.195A>T c.4342A>T (p.Thr1448Ser) c.1780A>T n.7064A>T c.7048A>T (p.Thr2350Ser) c.6970A>T (p.Thr2324Ser) c.4354A>T (p.Thr1452Ser) c.6955A>T (p.Thr2319Ser) c.169A>T (p.Thr57Ser) n.7067A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692705C>A | CA360371440 | ADGRV1 | c.7052C>A (p.Thr2351Lys) c.265+16496C>A (n.265+16496C>A) n.2511C>A c.859C>A n.196C>A c.4343C>A (p.Thr1448Lys) c.1781C>A n.7065C>A c.7049C>A (p.Thr2350Lys) c.6971C>A (p.Thr2324Lys) c.4355C>A (p.Thr1452Lys) c.6956C>A (p.Thr2319Lys) c.170C>A (p.Thr57Lys) n.7068C>A | |
5 | g.90692705C= | CA1562859293 | ADGRV1 | c.7052C= (p.Thr2351=) c.265+16496C= (n.265+16496C=) n.2511C= c.859C= n.196C= c.4343C= (p.Thr1448=) c.1781C= n.7065C= c.7049C= (p.Thr2350=) c.6971C= (p.Thr2324=) c.4355C= (p.Thr1452=) c.6956C= (p.Thr2319=) c.170C= (p.Thr57=) n.7068C= | |
5 | g.90692705C>G | CA360371452 | ADGRV1 | c.7052C>G (p.Thr2351Arg) c.265+16496C>G (n.265+16496C>G) n.2511C>G c.859C>G n.196C>G c.4343C>G (p.Thr1448Arg) c.1781C>G n.7065C>G c.7049C>G (p.Thr2350Arg) c.6971C>G (p.Thr2324Arg) c.4355C>G (p.Thr1452Arg) c.6956C>G (p.Thr2319Arg) c.170C>G (p.Thr57Arg) n.7068C>G | |
5 | g.90692705C>T | CA360371443 | ADGRV1 | c.7052C>T (p.Thr2351Ile) c.265+16496C>T (n.265+16496C>T) n.2511C>T c.859C>T n.196C>T c.4343C>T (p.Thr1448Ile) c.1781C>T n.7065C>T c.7049C>T (p.Thr2350Ile) c.6971C>T (p.Thr2324Ile) c.4355C>T (p.Thr1452Ile) c.6956C>T (p.Thr2319Ile) c.170C>T (p.Thr57Ile) n.7068C>T | dbSNP |
5 | g.90692706A= | CA1562859294 | ADGRV1 | c.7053A= (p.Thr2351=) c.265+16497A= (n.265+16497A=) n.2512A= c.860A= n.197A= c.4344A= (p.Thr1448=) c.1782A= n.7066A= c.7050A= (p.Thr2350=) c.6972A= (p.Thr2324=) c.4356A= (p.Thr1452=) c.6957A= (p.Thr2319=) c.171A= (p.Thr57=) n.7069A= | |
5 | g.90692706A>C | CA445404522 | ADGRV1 | c.7053A>C (p.Thr2351=) c.265+16497A>C (n.265+16497A>C) n.2512A>C c.860A>C n.197A>C c.4344A>C (p.Thr1448=) c.1782A>C n.7066A>C c.7050A>C (p.Thr2350=) c.6972A>C (p.Thr2324=) c.4356A>C (p.Thr1452=) c.6957A>C (p.Thr2319=) c.171A>C (p.Thr57=) n.7069A>C | |
5 | g.90692706A>G | CA445404523 | ADGRV1 | c.7053A>G (p.Thr2351=) c.265+16497A>G (n.265+16497A>G) n.2512A>G c.860A>G n.197A>G c.4344A>G (p.Thr1448=) c.1782A>G n.7066A>G c.7050A>G (p.Thr2350=) c.6972A>G (p.Thr2324=) c.4356A>G (p.Thr1452=) c.6957A>G (p.Thr2319=) c.171A>G (p.Thr57=) n.7069A>G | gnomAD v4 |
5 | g.90692706A>T | CA3339958 | ADGRV1 | c.7053A>T (p.Thr2351=) c.265+16497A>T (n.265+16497A>T) n.2512A>T c.860A>T n.197A>T c.4344A>T (p.Thr1448=) c.1782A>T n.7066A>T c.7050A>T (p.Thr2350=) c.6972A>T (p.Thr2324=) c.4356A>T (p.Thr1452=) c.6957A>T (p.Thr2319=) c.171A>T (p.Thr57=) n.7069A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692707G>A | CA3339959 | ADGRV1 | c.7054G>A (p.Val2352Ile) c.265+16498G>A (n.265+16498G>A) n.2513G>A c.861G>A n.198G>A c.4345G>A (p.Val1449Ile) c.1783G>A n.7067G>A c.7051G>A (p.Val2351Ile) c.6973G>A (p.Val2325Ile) c.4357G>A (p.Val1453Ile) c.6958G>A (p.Val2320Ile) c.172G>A (p.Val58Ile) n.7070G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692707G>C | CA360371458 | ADGRV1 | c.7054G>C (p.Val2352Leu) c.265+16498G>C (n.265+16498G>C) n.2513G>C c.861G>C n.198G>C c.4345G>C (p.Val1449Leu) c.1783G>C n.7067G>C c.7051G>C (p.Val2351Leu) c.6973G>C (p.Val2325Leu) c.4357G>C (p.Val1453Leu) c.6958G>C (p.Val2320Leu) c.172G>C (p.Val58Leu) n.7070G>C | |
5 | g.90692707G= | CA1562859295 | ADGRV1 | c.7054G= (p.Val2352=) c.265+16498G= (n.265+16498G=) n.2513G= c.861G= n.198G= c.4345G= (p.Val1449=) c.1783G= n.7067G= c.7051G= (p.Val2351=) c.6973G= (p.Val2325=) c.4357G= (p.Val1453=) c.6958G= (p.Val2320=) c.172G= (p.Val58=) n.7070G= | |
5 | g.90692707G>T | CA360371460 | ADGRV1 | c.7054G>T (p.Val2352Leu) c.265+16498G>T (n.265+16498G>T) n.2513G>T c.861G>T n.198G>T c.4345G>T (p.Val1449Leu) c.1783G>T n.7067G>T c.7051G>T (p.Val2351Leu) c.6973G>T (p.Val2325Leu) c.4357G>T (p.Val1453Leu) c.6958G>T (p.Val2320Leu) c.172G>T (p.Val58Leu) n.7070G>T | |
5 | g.90692708T>A | CA360371465 | ADGRV1 | c.7055T>A (p.Val2352Glu) c.265+16499T>A (n.265+16499T>A) n.2514T>A c.862T>A n.199T>A c.4346T>A (p.Val1449Glu) c.1784T>A n.7068T>A c.7052T>A (p.Val2351Glu) c.6974T>A (p.Val2325Glu) c.4358T>A (p.Val1453Glu) c.6959T>A (p.Val2320Glu) c.173T>A (p.Val58Glu) n.7071T>A | |
5 | g.90692708T>C | CA360371467 | ADGRV1 | c.7055T>C (p.Val2352Ala) c.265+16499T>C (n.265+16499T>C) n.2514T>C c.862T>C n.199T>C c.4346T>C (p.Val1449Ala) c.1784T>C n.7068T>C c.7052T>C (p.Val2351Ala) c.6974T>C (p.Val2325Ala) c.4358T>C (p.Val1453Ala) c.6959T>C (p.Val2320Ala) c.173T>C (p.Val58Ala) n.7071T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692708T>G | CA360371470 | ADGRV1 | c.7055T>G (p.Val2352Gly) c.265+16499T>G (n.265+16499T>G) n.2514T>G c.862T>G n.199T>G c.4346T>G (p.Val1449Gly) c.1784T>G n.7068T>G c.7052T>G (p.Val2351Gly) c.6974T>G (p.Val2325Gly) c.4358T>G (p.Val1453Gly) c.6959T>G (p.Val2320Gly) c.173T>G (p.Val58Gly) n.7071T>G | |
5 | g.90692708T= | CA1562859296 | ADGRV1 | c.7055T= (p.Val2352=) c.265+16499T= (n.265+16499T=) n.2514T= c.862T= n.199T= c.4346T= (p.Val1449=) c.1784T= n.7068T= c.7052T= (p.Val2351=) c.6974T= (p.Val2325=) c.4358T= (p.Val1453=) c.6959T= (p.Val2320=) c.173T= (p.Val58=) n.7071T= | |
5 | g.90692709A>C | CA445404524 | ADGRV1 | c.7056A>C (p.Val2352=) c.265+16500A>C (n.265+16500A>C) n.2515A>C c.863A>C n.200A>C c.4347A>C (p.Val1449=) c.1785A>C n.7069A>C c.7053A>C (p.Val2351=) c.6975A>C (p.Val2325=) c.4359A>C (p.Val1453=) c.6960A>C (p.Val2320=) c.174A>C (p.Val58=) n.7072A>C | |
5 | g.90692709A>G | CA445404525 | ADGRV1 | c.7056A>G (p.Val2352=) c.265+16500A>G (n.265+16500A>G) n.2515A>G c.863A>G n.200A>G c.4347A>G (p.Val1449=) c.1785A>G n.7069A>G c.7053A>G (p.Val2351=) c.6975A>G (p.Val2325=) c.4359A>G (p.Val1453=) c.6960A>G (p.Val2320=) c.174A>G (p.Val58=) n.7072A>G | |
5 | g.90692709A>T | CA445404526 | ADGRV1 | c.7056A>T (p.Val2352=) c.265+16500A>T (n.265+16500A>T) n.2515A>T c.863A>T n.200A>T c.4347A>T (p.Val1449=) c.1785A>T n.7069A>T c.7053A>T (p.Val2351=) c.6975A>T (p.Val2325=) c.4359A>T (p.Val1453=) c.6960A>T (p.Val2320=) c.174A>T (p.Val58=) n.7072A>T | |
5 | g.90692710G>A | CA360371476 | ADGRV1 | c.7057G>A (p.Ala2353Thr) c.265+16501G>A (n.265+16501G>A) n.2516G>A c.864G>A n.201G>A c.4348G>A (p.Ala1450Thr) c.1786G>A n.7070G>A c.7054G>A (p.Ala2352Thr) c.6976G>A (p.Ala2326Thr) c.4360G>A (p.Ala1454Thr) c.6961G>A (p.Ala2321Thr) c.175G>A (p.Ala59Thr) n.7073G>A | |
5 | g.90692710G>C | CA360371478 | ADGRV1 | c.7057G>C (p.Ala2353Pro) c.265+16501G>C (n.265+16501G>C) n.2516G>C c.864G>C n.201G>C c.4348G>C (p.Ala1450Pro) c.1786G>C n.7070G>C c.7054G>C (p.Ala2352Pro) c.6976G>C (p.Ala2326Pro) c.4360G>C (p.Ala1454Pro) c.6961G>C (p.Ala2321Pro) c.175G>C (p.Ala59Pro) n.7073G>C | |
5 | g.90692710G>T | CA360371479 | ADGRV1 | c.7057G>T (p.Ala2353Ser) c.265+16501G>T (n.265+16501G>T) n.2516G>T c.864G>T n.201G>T c.4348G>T (p.Ala1450Ser) c.1786G>T n.7070G>T c.7054G>T (p.Ala2352Ser) c.6976G>T (p.Ala2326Ser) c.4360G>T (p.Ala1454Ser) c.6961G>T (p.Ala2321Ser) c.175G>T (p.Ala59Ser) n.7073G>T | |
5 | g.90692711C>A | CA360371481 | ADGRV1 | c.7058C>A (p.Ala2353Asp) c.265+16502C>A (n.265+16502C>A) n.2517C>A c.865C>A n.202C>A c.4349C>A (p.Ala1450Asp) c.1787C>A n.7071C>A c.7055C>A (p.Ala2352Asp) c.6977C>A (p.Ala2326Asp) c.4361C>A (p.Ala1454Asp) c.6962C>A (p.Ala2321Asp) c.176C>A (p.Ala59Asp) n.7074C>A | |
5 | g.90692711C>G | CA360371483 | ADGRV1 | c.7058C>G (p.Ala2353Gly) c.265+16502C>G (n.265+16502C>G) n.2517C>G c.865C>G n.202C>G c.4349C>G (p.Ala1450Gly) c.1787C>G n.7071C>G c.7055C>G (p.Ala2352Gly) c.6977C>G (p.Ala2326Gly) c.4361C>G (p.Ala1454Gly) c.6962C>G (p.Ala2321Gly) c.176C>G (p.Ala59Gly) n.7074C>G | |
5 | g.90692711C>T | CA360371489 | ADGRV1 | c.7058C>T (p.Ala2353Val) c.265+16502C>T (n.265+16502C>T) n.2517C>T c.865C>T n.202C>T c.4349C>T (p.Ala1450Val) c.1787C>T n.7071C>T c.7055C>T (p.Ala2352Val) c.6977C>T (p.Ala2326Val) c.4361C>T (p.Ala1454Val) c.6962C>T (p.Ala2321Val) c.176C>T (p.Ala59Val) n.7074C>T | |
5 | g.90692712C>A | CA445404529 | ADGRV1 | c.7059C>A (p.Ala2353=) c.265+16503C>A (n.265+16503C>A) n.2518C>A c.866C>A n.203C>A c.4350C>A (p.Ala1450=) c.1788C>A n.7072C>A c.7056C>A (p.Ala2352=) c.6978C>A (p.Ala2326=) c.4362C>A (p.Ala1454=) c.6963C>A (p.Ala2321=) c.177C>A (p.Ala59=) n.7075C>A | gnomAD v4 |
5 | g.90692712C>G | CA445404527 | ADGRV1 | c.7059C>G (p.Ala2353=) c.265+16503C>G (n.265+16503C>G) n.2518C>G c.866C>G n.203C>G c.4350C>G (p.Ala1450=) c.1788C>G n.7072C>G c.7056C>G (p.Ala2352=) c.6978C>G (p.Ala2326=) c.4362C>G (p.Ala1454=) c.6963C>G (p.Ala2321=) c.177C>G (p.Ala59=) n.7075C>G | |
5 | g.90692712C>T | CA445404528 | ADGRV1 | c.7059C>T (p.Ala2353=) c.265+16503C>T (n.265+16503C>T) n.2518C>T c.866C>T n.203C>T c.4350C>T (p.Ala1450=) c.1788C>T n.7072C>T c.7056C>T (p.Ala2352=) c.6978C>T (p.Ala2326=) c.4362C>T (p.Ala1454=) c.6963C>T (p.Ala2321=) c.177C>T (p.Ala59=) n.7075C>T | |
5 | g.90692713T>A | CA360371497 | ADGRV1 | c.7060T>A (p.Phe2354Ile) c.265+16504T>A (n.265+16504T>A) n.2519T>A c.867T>A n.204T>A c.4351T>A (p.Phe1451Ile) c.1789T>A n.7073T>A c.7057T>A (p.Phe2353Ile) c.6979T>A (p.Phe2327Ile) c.4363T>A (p.Phe1455Ile) c.6964T>A (p.Phe2322Ile) c.178T>A (p.Phe60Ile) n.7076T>A | |
5 | g.90692713T>C | CA360371496 | ADGRV1 | c.7060T>C (p.Phe2354Leu) c.265+16504T>C (n.265+16504T>C) n.2519T>C c.867T>C n.204T>C c.4351T>C (p.Phe1451Leu) c.1789T>C n.7073T>C c.7057T>C (p.Phe2353Leu) c.6979T>C (p.Phe2327Leu) c.4363T>C (p.Phe1455Leu) c.6964T>C (p.Phe2322Leu) c.178T>C (p.Phe60Leu) n.7076T>C | |
5 | g.90692713T>G | CA360371495 | ADGRV1 | c.7060T>G (p.Phe2354Val) c.265+16504T>G (n.265+16504T>G) n.2519T>G c.867T>G n.204T>G c.4351T>G (p.Phe1451Val) c.1789T>G n.7073T>G c.7057T>G (p.Phe2353Val) c.6979T>G (p.Phe2327Val) c.4363T>G (p.Phe1455Val) c.6964T>G (p.Phe2322Val) c.178T>G (p.Phe60Val) n.7076T>G | |
5 | g.90692714T>A | CA360371500 | ADGRV1 | c.7061T>A (p.Phe2354Tyr) c.265+16505T>A (n.265+16505T>A) n.2520T>A c.868T>A n.205T>A c.4352T>A (p.Phe1451Tyr) c.1790T>A n.7074T>A c.7058T>A (p.Phe2353Tyr) c.6980T>A (p.Phe2327Tyr) c.4364T>A (p.Phe1455Tyr) c.6965T>A (p.Phe2322Tyr) c.179T>A (p.Phe60Tyr) n.7077T>A | |
5 | g.90692714T>C | CA360371501 | ADGRV1 | c.7061T>C (p.Phe2354Ser) c.265+16505T>C (n.265+16505T>C) n.2520T>C c.868T>C n.205T>C c.4352T>C (p.Phe1451Ser) c.1790T>C n.7074T>C c.7058T>C (p.Phe2353Ser) c.6980T>C (p.Phe2327Ser) c.4364T>C (p.Phe1455Ser) c.6965T>C (p.Phe2322Ser) c.179T>C (p.Phe60Ser) n.7077T>C | |
5 | g.90692714T>G | CA360371502 | ADGRV1 | c.7061T>G (p.Phe2354Cys) c.265+16505T>G (n.265+16505T>G) n.2520T>G c.868T>G n.205T>G c.4352T>G (p.Phe1451Cys) c.1790T>G n.7074T>G c.7058T>G (p.Phe2353Cys) c.6980T>G (p.Phe2327Cys) c.4364T>G (p.Phe1455Cys) c.6965T>G (p.Phe2322Cys) c.179T>G (p.Phe60Cys) n.7077T>G | |
5 | g.90692715T>A | CA360371503 | ADGRV1 | c.7062T>A (p.Phe2354Leu) c.265+16506T>A (n.265+16506T>A) n.2521T>A c.869T>A n.206T>A c.4353T>A (p.Phe1451Leu) c.1791T>A n.7075T>A c.7059T>A (p.Phe2353Leu) c.6981T>A (p.Phe2327Leu) c.4365T>A (p.Phe1455Leu) c.6966T>A (p.Phe2322Leu) c.180T>A (p.Phe60Leu) n.7078T>A | |
5 | g.90692715T>C | CA445404533 | ADGRV1 | c.7062T>C (p.Phe2354=) c.265+16506T>C (n.265+16506T>C) n.2521T>C c.869T>C n.206T>C c.4353T>C (p.Phe1451=) c.1791T>C n.7075T>C c.7059T>C (p.Phe2353=) c.6981T>C (p.Phe2327=) c.4365T>C (p.Phe1455=) c.6966T>C (p.Phe2322=) c.180T>C (p.Phe60=) n.7078T>C | |
5 | g.90692715T>G | CA360371511 | ADGRV1 | c.7062T>G (p.Phe2354Leu) c.265+16506T>G (n.265+16506T>G) n.2521T>G c.869T>G n.206T>G c.4353T>G (p.Phe1451Leu) c.1791T>G n.7075T>G c.7059T>G (p.Phe2353Leu) c.6981T>G (p.Phe2327Leu) c.4365T>G (p.Phe1455Leu) c.6966T>G (p.Phe2322Leu) c.180T>G (p.Phe60Leu) n.7078T>G | |
5 | g.90692716G>A | CA360371519 | ADGRV1 | c.7063G>A (p.Ala2355Thr) c.265+16507G>A (n.265+16507G>A) n.2522G>A c.870G>A n.207G>A c.4354G>A (p.Ala1452Thr) c.1792G>A n.7076G>A c.7060G>A (p.Ala2354Thr) c.6982G>A (p.Ala2328Thr) c.4366G>A (p.Ala1456Thr) c.6967G>A (p.Ala2323Thr) c.181G>A (p.Ala61Thr) n.7079G>A | |
5 | g.90692716G>C | CA360371522 | ADGRV1 | c.7063G>C (p.Ala2355Pro) c.265+16507G>C (n.265+16507G>C) n.2522G>C c.870G>C n.207G>C c.4354G>C (p.Ala1452Pro) c.1792G>C n.7076G>C c.7060G>C (p.Ala2354Pro) c.6982G>C (p.Ala2328Pro) c.4366G>C (p.Ala1456Pro) c.6967G>C (p.Ala2323Pro) c.181G>C (p.Ala61Pro) n.7079G>C | |
5 | g.90692716G>T | CA360371525 | ADGRV1 | c.7063G>T (p.Ala2355Ser) c.265+16507G>T (n.265+16507G>T) n.2522G>T c.870G>T n.207G>T c.4354G>T (p.Ala1452Ser) c.1792G>T n.7076G>T c.7060G>T (p.Ala2354Ser) c.6982G>T (p.Ala2328Ser) c.4366G>T (p.Ala1456Ser) c.6967G>T (p.Ala2323Ser) c.181G>T (p.Ala61Ser) n.7079G>T | |
5 | g.90692717C>A | CA360371531 | ADGRV1 | c.7064C>A (p.Ala2355Asp) c.265+16508C>A (n.265+16508C>A) n.2523C>A c.871C>A n.208C>A c.4355C>A (p.Ala1452Asp) c.1793C>A n.7077C>A c.7061C>A (p.Ala2354Asp) c.6983C>A (p.Ala2328Asp) c.4367C>A (p.Ala1456Asp) c.6968C>A (p.Ala2323Asp) c.182C>A (p.Ala61Asp) n.7080C>A | dbSNP gnomAD v4 |
5 | g.90692717C= | CA1562859297 | ADGRV1 | c.7064C= (p.Ala2355=) c.265+16508C= (n.265+16508C=) n.2523C= c.871C= n.208C= c.4355C= (p.Ala1452=) c.1793C= n.7077C= c.7061C= (p.Ala2354=) c.6983C= (p.Ala2328=) c.4367C= (p.Ala1456=) c.6968C= (p.Ala2323=) c.182C= (p.Ala61=) n.7080C= | |
5 | g.90692717C>G | CA360371534 | ADGRV1 | c.7064C>G (p.Ala2355Gly) c.265+16508C>G (n.265+16508C>G) n.2523C>G c.871C>G n.208C>G c.4355C>G (p.Ala1452Gly) c.1793C>G n.7077C>G c.7061C>G (p.Ala2354Gly) c.6983C>G (p.Ala2328Gly) c.4367C>G (p.Ala1456Gly) c.6968C>G (p.Ala2323Gly) c.182C>G (p.Ala61Gly) n.7080C>G | |
5 | g.90692717C>T | CA122797189 | ADGRV1 | c.7064C>T (p.Ala2355Val) c.265+16508C>T (n.265+16508C>T) n.2523C>T c.871C>T n.208C>T c.4355C>T (p.Ala1452Val) c.1793C>T n.7077C>T c.7061C>T (p.Ala2354Val) c.6983C>T (p.Ala2328Val) c.4367C>T (p.Ala1456Val) c.6968C>T (p.Ala2323Val) c.182C>T (p.Ala61Val) n.7080C>T | dbSNP |
5 | g.90692718T>A | CA445404534 | ADGRV1 | c.7065T>A (p.Ala2355=) c.265+16509T>A (n.265+16509T>A) n.2524T>A c.872T>A n.209T>A c.4356T>A (p.Ala1452=) c.1794T>A n.7078T>A c.7062T>A (p.Ala2354=) c.6984T>A (p.Ala2328=) c.4368T>A (p.Ala1456=) c.6969T>A (p.Ala2323=) c.183T>A (p.Ala61=) n.7081T>A | |
5 | g.90692718T>C | CA3339960 | ADGRV1 | c.7065T>C (p.Ala2355=) c.265+16509T>C (n.265+16509T>C) n.2524T>C c.872T>C n.209T>C c.4356T>C (p.Ala1452=) c.1794T>C n.7078T>C c.7062T>C (p.Ala2354=) c.6984T>C (p.Ala2328=) c.4368T>C (p.Ala1456=) c.6969T>C (p.Ala2323=) c.183T>C (p.Ala61=) n.7081T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692718T>G | CA445404535 | ADGRV1 | c.7065T>G (p.Ala2355=) c.265+16509T>G (n.265+16509T>G) n.2524T>G c.872T>G n.209T>G c.4356T>G (p.Ala1452=) c.1794T>G n.7078T>G c.7062T>G (p.Ala2354=) c.6984T>G (p.Ala2328=) c.4368T>G (p.Ala1456=) c.6969T>G (p.Ala2323=) c.183T>G (p.Ala61=) n.7081T>G | |
5 | g.90692718T= | CA1562859298 | ADGRV1 | c.7065T= (p.Ala2355=) c.265+16509T= (n.265+16509T=) n.2524T= c.872T= n.209T= c.4356T= (p.Ala1452=) c.1794T= n.7078T= c.7062T= (p.Ala2354=) c.6984T= (p.Ala2328=) c.4368T= (p.Ala1456=) c.6969T= (p.Ala2323=) c.183T= (p.Ala61=) n.7081T= | |
5 | g.90692719del | CA2697546299 | ADGRV1 | c.7066del (p.Gln2356ArgfsTer18) c.265+16510del (n.265+16510del) n.2525del c.873del n.210del c.4357del (p.Gln1453ArgfsTer18) c.1795del n.7079del c.7063del (p.Gln2355ArgfsTer18) c.6985del (p.Gln2329ArgfsTer18) c.4369del (p.Gln1457ArgfsTer18) c.6970del (p.Gln2324ArgfsTer18) c.184del (p.Gln62ArgfsTer18) n.7082del | ClinVar |
5 | g.90692719C>A | CA360371548 | ADGRV1 | c.7066C>A (p.Gln2356Lys) c.265+16510C>A (n.265+16510C>A) n.2525C>A c.873C>A n.210C>A c.4357C>A (p.Gln1453Lys) c.1795C>A n.7079C>A c.7063C>A (p.Gln2355Lys) c.6985C>A (p.Gln2329Lys) c.4369C>A (p.Gln1457Lys) c.6970C>A (p.Gln2324Lys) c.184C>A (p.Gln62Lys) n.7082C>A | |
5 | g.90692719C= | CA1562859299 | ADGRV1 | c.7066C= (p.Gln2356=) c.265+16510C= (n.265+16510C=) n.2525C= c.873C= n.210C= c.4357C= (p.Gln1453=) c.1795C= n.7079C= c.7063C= (p.Gln2355=) c.6985C= (p.Gln2329=) c.4369C= (p.Gln1457=) c.6970C= (p.Gln2324=) c.184C= (p.Gln62=) n.7082C= | |
5 | g.90692719C>G | CA360371550 | ADGRV1 | c.7066C>G (p.Gln2356Glu) c.265+16510C>G (n.265+16510C>G) n.2525C>G c.873C>G n.210C>G c.4357C>G (p.Gln1453Glu) c.1795C>G n.7079C>G c.7063C>G (p.Gln2355Glu) c.6985C>G (p.Gln2329Glu) c.4369C>G (p.Gln1457Glu) c.6970C>G (p.Gln2324Glu) c.184C>G (p.Gln62Glu) n.7082C>G | |
5 | g.90692719C>T | CA360371547 | ADGRV1 | c.7066C>T (p.Gln2356Ter) c.265+16510C>T (n.265+16510C>T) n.2525C>T c.873C>T n.210C>T c.4357C>T (p.Gln1453Ter) c.1795C>T n.7079C>T c.7063C>T (p.Gln2355Ter) c.6985C>T (p.Gln2329Ter) c.4369C>T (p.Gln1457Ter) c.6970C>T (p.Gln2324Ter) c.184C>T (p.Gln62Ter) n.7082C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692720A>C | CA360371553 | ADGRV1 | c.7067A>C (p.Gln2356Pro) c.265+16511A>C (n.265+16511A>C) n.2526A>C c.874A>C n.211A>C c.4358A>C (p.Gln1453Pro) c.1796A>C n.7080A>C c.7064A>C (p.Gln2355Pro) c.6986A>C (p.Gln2329Pro) c.4370A>C (p.Gln1457Pro) c.6971A>C (p.Gln2324Pro) c.185A>C (p.Gln62Pro) n.7083A>C | |
5 | g.90692720A>G | CA360371561 | ADGRV1 | c.7067A>G (p.Gln2356Arg) c.265+16511A>G (n.265+16511A>G) n.2526A>G c.874A>G n.211A>G c.4358A>G (p.Gln1453Arg) c.1796A>G n.7080A>G c.7064A>G (p.Gln2355Arg) c.6986A>G (p.Gln2329Arg) c.4370A>G (p.Gln1457Arg) c.6971A>G (p.Gln2324Arg) c.185A>G (p.Gln62Arg) n.7083A>G | |
5 | g.90692720A>T | CA360371566 | ADGRV1 | c.7067A>T (p.Gln2356Leu) c.265+16511A>T (n.265+16511A>T) n.2526A>T c.874A>T n.211A>T c.4358A>T (p.Gln1453Leu) c.1796A>T n.7080A>T c.7064A>T (p.Gln2355Leu) c.6986A>T (p.Gln2329Leu) c.4370A>T (p.Gln1457Leu) c.6971A>T (p.Gln2324Leu) c.185A>T (p.Gln62Leu) n.7083A>T | |
5 | g.90692721G>A | CA445404538 | ADGRV1 | c.7068G>A (p.Gln2356=) c.265+16512G>A (n.265+16512G>A) n.2527G>A c.875G>A n.212G>A c.4359G>A (p.Gln1453=) c.1797G>A n.7081G>A c.7065G>A (p.Gln2355=) c.6987G>A (p.Gln2329=) c.4371G>A (p.Gln1457=) c.6972G>A (p.Gln2324=) c.186G>A (p.Gln62=) n.7084G>A | dbSNP gnomAD v4 |
5 | g.90692721G>C | CA360371571 | ADGRV1 | c.7068G>C (p.Gln2356His) c.265+16512G>C (n.265+16512G>C) n.2527G>C c.875G>C n.212G>C c.4359G>C (p.Gln1453His) c.1797G>C n.7081G>C c.7065G>C (p.Gln2355His) c.6987G>C (p.Gln2329His) c.4371G>C (p.Gln1457His) c.6972G>C (p.Gln2324His) c.186G>C (p.Gln62His) n.7084G>C | |
5 | g.90692721G= | CA1562859300 | ADGRV1 | c.7068G= (p.Gln2356=) c.265+16512G= (n.265+16512G=) n.2527G= c.875G= n.212G= c.4359G= (p.Gln1453=) c.1797G= n.7081G= c.7065G= (p.Gln2355=) c.6987G= (p.Gln2329=) c.4371G= (p.Gln1457=) c.6972G= (p.Gln2324=) c.186G= (p.Gln62=) n.7084G= | |
5 | g.90692721G>T | CA360371573 | ADGRV1 | c.7068G>T (p.Gln2356His) c.265+16512G>T (n.265+16512G>T) n.2527G>T c.875G>T n.212G>T c.4359G>T (p.Gln1453His) c.1797G>T n.7081G>T c.7065G>T (p.Gln2355His) c.6987G>T (p.Gln2329His) c.4371G>T (p.Gln1457His) c.6972G>T (p.Gln2324His) c.186G>T (p.Gln62His) n.7084G>T | |
5 | g.90692722A= | CA1562859301 | ADGRV1 | c.7069A= (p.Met2357=) c.265+16513A= (n.265+16513A=) n.2528A= c.876A= n.213A= c.4360A= (p.Met1454=) c.1798A= n.7082A= c.7066A= (p.Met2356=) c.6988A= (p.Met2330=) c.4372A= (p.Met1458=) c.6973A= (p.Met2325=) c.187A= (p.Met63=) n.7085A= | |
5 | g.90692722A>C | CA360371576 | ADGRV1 | c.7069A>C (p.Met2357Leu) c.265+16513A>C (n.265+16513A>C) n.2528A>C c.876A>C n.213A>C c.4360A>C (p.Met1454Leu) c.1798A>C n.7082A>C c.7066A>C (p.Met2356Leu) c.6988A>C (p.Met2330Leu) c.4372A>C (p.Met1458Leu) c.6973A>C (p.Met2325Leu) c.187A>C (p.Met63Leu) n.7085A>C | |
5 | g.90692722A>G | CA122797190 | ADGRV1 | c.7069A>G (p.Met2357Val) c.265+16513A>G (n.265+16513A>G) n.2528A>G c.876A>G n.213A>G c.4360A>G (p.Met1454Val) c.1798A>G n.7082A>G c.7066A>G (p.Met2356Val) c.6988A>G (p.Met2330Val) c.4372A>G (p.Met1458Val) c.6973A>G (p.Met2325Val) c.187A>G (p.Met63Val) n.7085A>G | dbSNP |
5 | g.90692722A>T | CA3339961 | ADGRV1 | c.7069A>T (p.Met2357Leu) c.265+16513A>T (n.265+16513A>T) n.2528A>T c.876A>T n.213A>T c.4360A>T (p.Met1454Leu) c.1798A>T n.7082A>T c.7066A>T (p.Met2356Leu) c.6988A>T (p.Met2330Leu) c.4372A>T (p.Met1458Leu) c.6973A>T (p.Met2325Leu) c.187A>T (p.Met63Leu) n.7085A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692723T>A | CA360371578 | ADGRV1 | c.7070T>A (p.Met2357Lys) c.265+16514T>A (n.265+16514T>A) n.2529T>A c.877T>A n.214T>A c.4361T>A (p.Met1454Lys) c.1799T>A n.7083T>A c.7067T>A (p.Met2356Lys) c.6989T>A (p.Met2330Lys) c.4373T>A (p.Met1458Lys) c.6974T>A (p.Met2325Lys) c.188T>A (p.Met63Lys) n.7086T>A | gnomAD v4 |
5 | g.90692723T>C | CA360371581 | ADGRV1 | c.7070T>C (p.Met2357Thr) c.265+16514T>C (n.265+16514T>C) n.2529T>C c.877T>C n.214T>C c.4361T>C (p.Met1454Thr) c.1799T>C n.7083T>C c.7067T>C (p.Met2356Thr) c.6989T>C (p.Met2330Thr) c.4373T>C (p.Met1458Thr) c.6974T>C (p.Met2325Thr) c.188T>C (p.Met63Thr) n.7086T>C | dbSNP |
5 | g.90692723T>G | CA360371585 | ADGRV1 | c.7070T>G (p.Met2357Arg) c.265+16514T>G (n.265+16514T>G) n.2529T>G c.877T>G n.214T>G c.4361T>G (p.Met1454Arg) c.1799T>G n.7083T>G c.7067T>G (p.Met2356Arg) c.6989T>G (p.Met2330Arg) c.4373T>G (p.Met1458Arg) c.6974T>G (p.Met2325Arg) c.188T>G (p.Met63Arg) n.7086T>G | |
5 | g.90692724G>A | CA3339962 | ADGRV1 | c.7071G>A (p.Met2357Ile) c.265+16515G>A (n.265+16515G>A) n.2530G>A c.878G>A n.215G>A c.4362G>A (p.Met1454Ile) c.1800G>A n.7084G>A c.7068G>A (p.Met2356Ile) c.6990G>A (p.Met2330Ile) c.4374G>A (p.Met1458Ile) c.6975G>A (p.Met2325Ile) c.189G>A (p.Met63Ile) n.7087G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90692724G>C | CA360371592 | ADGRV1 | c.7071G>C (p.Met2357Ile) c.265+16515G>C (n.265+16515G>C) n.2530G>C c.878G>C n.215G>C c.4362G>C (p.Met1454Ile) c.1800G>C n.7084G>C c.7068G>C (p.Met2356Ile) c.6990G>C (p.Met2330Ile) c.4374G>C (p.Met1458Ile) c.6975G>C (p.Met2325Ile) c.189G>C (p.Met63Ile) n.7087G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692724G= | CA1562859303 | ADGRV1 | c.7071G= (p.Met2357=) c.265+16515G= (n.265+16515G=) n.2530G= c.878G= n.215G= c.4362G= (p.Met1454=) c.1800G= n.7084G= c.7068G= (p.Met2356=) c.6990G= (p.Met2330=) c.4374G= (p.Met1458=) c.6975G= (p.Met2325=) c.189G= (p.Met63=) n.7087G= | |
5 | g.90692724G>T | CA360371597 | ADGRV1 | c.7071G>T (p.Met2357Ile) c.265+16515G>T (n.265+16515G>T) n.2530G>T c.878G>T n.215G>T c.4362G>T (p.Met1454Ile) c.1800G>T n.7084G>T c.7068G>T (p.Met2356Ile) c.6990G>T (p.Met2330Ile) c.4374G>T (p.Met1458Ile) c.6975G>T (p.Met2325Ile) c.189G>T (p.Met63Ile) n.7087G>T | |
5 | g.90692724_90692726delinsGGT | CA1562859302 | ADGRV1 | c.7071_7073delinsGGT (p.Met2357=) c.265+16515_265+16517delinsGGT (n.265+16515_265+16517delinsGGT) n.2530_2532delinsGGT c.878_880delinsGGT n.215_217delinsGGT c.4362_4364delinsGGT (p.Met1454=) c.1800_1802delinsGGT n.7084_7086delinsGGT c.7068_7070delinsGGT (p.Met2356=) c.6990_6992delinsGGT (p.Met2330=) c.4374_4376delinsGGT (p.Met1458=) c.6975_6977delinsGGT (p.Met2325=) c.189_191delinsGGT (p.Met63=) n.7087_7089delinsGGT | |
5 | g.90692725G>A | CA360371599 | ADGRV1 | c.7072G>A (p.Val2358Ile) c.265+16516G>A (n.265+16516G>A) n.2531G>A c.879G>A n.216G>A c.4363G>A (p.Val1455Ile) c.1801G>A n.7085G>A c.7069G>A (p.Val2357Ile) c.6991G>A (p.Val2331Ile) c.4375G>A (p.Val1459Ile) c.6976G>A (p.Val2326Ile) c.190G>A (p.Val64Ile) n.7088G>A | dbSNP gnomAD v4 |
5 | g.90692725G>C | CA360371606 | ADGRV1 | c.7072G>C (p.Val2358Leu) c.265+16516G>C (n.265+16516G>C) n.2531G>C c.879G>C n.216G>C c.4363G>C (p.Val1455Leu) c.1801G>C n.7085G>C c.7069G>C (p.Val2357Leu) c.6991G>C (p.Val2331Leu) c.4375G>C (p.Val1459Leu) c.6976G>C (p.Val2326Leu) c.190G>C (p.Val64Leu) n.7088G>C | |
5 | g.90692725G= | CA1562859305 | ADGRV1 | c.7072G= (p.Val2358=) c.265+16516G= (n.265+16516G=) n.2531G= c.879G= n.216G= c.4363G= (p.Val1455=) c.1801G= n.7085G= c.7069G= (p.Val2357=) c.6991G= (p.Val2331=) c.4375G= (p.Val1459=) c.6976G= (p.Val2326=) c.190G= (p.Val64=) n.7088G= | |
5 | g.90692725G>T | CA360371602 | ADGRV1 | c.7072G>T (p.Val2358Phe) c.265+16516G>T (n.265+16516G>T) n.2531G>T c.879G>T n.216G>T c.4363G>T (p.Val1455Phe) c.1801G>T n.7085G>T c.7069G>T (p.Val2357Phe) c.6991G>T (p.Val2331Phe) c.4375G>T (p.Val1459Phe) c.6976G>T (p.Val2326Phe) c.190G>T (p.Val64Phe) n.7088G>T | |
5 | g.90692725_90692726del | CA1562859304 | ADGRV1 | c.7072_7073del (p.Val2358LeufsTer14) c.265+16516_265+16517del (n.265+16516_265+16517del) n.2531_2532del c.879_880del n.216_217del c.4363_4364del (p.Val1455LeufsTer14) c.1801_1802del n.7085_7086del c.7069_7070del (p.Val2357LeufsTer14) c.6991_6992del (p.Val2331LeufsTer14) c.4375_4376del (p.Val1459LeufsTer14) c.6976_6977del (p.Val2326LeufsTer14) c.190_191del (p.Val64LeufsTer14) n.7088_7089del | dbSNP |
5 | g.90692726T>A | CA360371611 | ADGRV1 | c.7073T>A (p.Val2358Asp) c.265+16517T>A (n.265+16517T>A) n.2532T>A c.880T>A n.217T>A c.4364T>A (p.Val1455Asp) c.1802T>A n.7086T>A c.7070T>A (p.Val2357Asp) c.6992T>A (p.Val2331Asp) c.4376T>A (p.Val1459Asp) c.6977T>A (p.Val2326Asp) c.191T>A (p.Val64Asp) n.7089T>A | |
5 | g.90692726T>C | CA360371612 | ADGRV1 | c.7073T>C (p.Val2358Ala) c.265+16517T>C (n.265+16517T>C) n.2532T>C c.880T>C n.217T>C c.4364T>C (p.Val1455Ala) c.1802T>C n.7086T>C c.7070T>C (p.Val2357Ala) c.6992T>C (p.Val2331Ala) c.4376T>C (p.Val1459Ala) c.6977T>C (p.Val2326Ala) c.191T>C (p.Val64Ala) n.7089T>C | |
5 | g.90692726T>G | CA360371618 | ADGRV1 | c.7073T>G (p.Val2358Gly) c.265+16517T>G (n.265+16517T>G) n.2532T>G c.880T>G n.217T>G c.4364T>G (p.Val1455Gly) c.1802T>G n.7086T>G c.7070T>G (p.Val2357Gly) c.6992T>G (p.Val2331Gly) c.4376T>G (p.Val1459Gly) c.6977T>G (p.Val2326Gly) c.191T>G (p.Val64Gly) n.7089T>G | |
5 | g.90692727T>A | CA445404543 | ADGRV1 | c.7074T>A (p.Val2358=) c.265+16518T>A (n.265+16518T>A) n.2533T>A c.881T>A n.218T>A c.4365T>A (p.Val1455=) c.1803T>A n.7087T>A c.7071T>A (p.Val2357=) c.6993T>A (p.Val2331=) c.4377T>A (p.Val1459=) c.6978T>A (p.Val2326=) c.192T>A (p.Val64=) n.7090T>A | |
5 | g.90692727T>C | CA445404544 | ADGRV1 | c.7074T>C (p.Val2358=) c.265+16518T>C (n.265+16518T>C) n.2533T>C c.881T>C n.218T>C c.4365T>C (p.Val1455=) c.1803T>C n.7087T>C c.7071T>C (p.Val2357=) c.6993T>C (p.Val2331=) c.4377T>C (p.Val1459=) c.6978T>C (p.Val2326=) c.192T>C (p.Val64=) n.7090T>C | |
5 | g.90692727T>G | CA445404545 | ADGRV1 | c.7074T>G (p.Val2358=) c.265+16518T>G (n.265+16518T>G) n.2533T>G c.881T>G n.218T>G c.4365T>G (p.Val1455=) c.1803T>G n.7087T>G c.7071T>G (p.Val2357=) c.6993T>G (p.Val2331=) c.4377T>G (p.Val1459=) c.6978T>G (p.Val2326=) c.192T>G (p.Val64=) n.7090T>G | |
5 | g.90692728T>A | CA360371621 | ADGRV1 | c.7075T>A (p.Tyr2359Asn) c.265+16519T>A (n.265+16519T>A) n.2534T>A c.882T>A n.219T>A c.4366T>A (p.Tyr1456Asn) c.1804T>A n.7088T>A c.7072T>A (p.Tyr2358Asn) c.6994T>A (p.Tyr2332Asn) c.4378T>A (p.Tyr1460Asn) c.6979T>A (p.Tyr2327Asn) c.193T>A (p.Tyr65Asn) n.7091T>A | |
5 | g.90692728T>C | CA360371622 | ADGRV1 | c.7075T>C (p.Tyr2359His) c.265+16519T>C (n.265+16519T>C) n.2534T>C c.882T>C n.219T>C c.4366T>C (p.Tyr1456His) c.1804T>C n.7088T>C c.7072T>C (p.Tyr2358His) c.6994T>C (p.Tyr2332His) c.4378T>C (p.Tyr1460His) c.6979T>C (p.Tyr2327His) c.193T>C (p.Tyr65His) n.7091T>C | |
5 | g.90692728T>G | CA360371623 | ADGRV1 | c.7075T>G (p.Tyr2359Asp) c.265+16519T>G (n.265+16519T>G) n.2534T>G c.882T>G n.219T>G c.4366T>G (p.Tyr1456Asp) c.1804T>G n.7088T>G c.7072T>G (p.Tyr2358Asp) c.6994T>G (p.Tyr2332Asp) c.4378T>G (p.Tyr1460Asp) c.6979T>G (p.Tyr2327Asp) c.193T>G (p.Tyr65Asp) n.7091T>G | gnomAD v4 |
5 | g.90692729A= | CA1562859306 | ADGRV1 | c.7076A= (p.Tyr2359=) c.265+16520A= (n.265+16520A=) n.2535A= c.883A= n.220A= c.4367A= (p.Tyr1456=) c.1805A= n.7089A= c.7073A= (p.Tyr2358=) c.6995A= (p.Tyr2332=) c.4379A= (p.Tyr1460=) c.6980A= (p.Tyr2327=) c.194A= (p.Tyr65=) n.7092A= | |
5 | g.90692729A>C | CA360371627 | ADGRV1 | c.7076A>C (p.Tyr2359Ser) c.265+16520A>C (n.265+16520A>C) n.2535A>C c.883A>C n.220A>C c.4367A>C (p.Tyr1456Ser) c.1805A>C n.7089A>C c.7073A>C (p.Tyr2358Ser) c.6995A>C (p.Tyr2332Ser) c.4379A>C (p.Tyr1460Ser) c.6980A>C (p.Tyr2327Ser) c.194A>C (p.Tyr65Ser) n.7092A>C | |
5 | g.90692729A>G | CA360371631 | ADGRV1 | c.7076A>G (p.Tyr2359Cys) c.265+16520A>G (n.265+16520A>G) n.2535A>G c.883A>G n.220A>G c.4367A>G (p.Tyr1456Cys) c.1805A>G n.7089A>G c.7073A>G (p.Tyr2358Cys) c.6995A>G (p.Tyr2332Cys) c.4379A>G (p.Tyr1460Cys) c.6980A>G (p.Tyr2327Cys) c.194A>G (p.Tyr65Cys) n.7092A>G | |
5 | g.90692729A>T | CA360371637 | ADGRV1 | c.7076A>T (p.Tyr2359Phe) c.265+16520A>T (n.265+16520A>T) n.2535A>T c.883A>T n.220A>T c.4367A>T (p.Tyr1456Phe) c.1805A>T n.7089A>T c.7073A>T (p.Tyr2358Phe) c.6995A>T (p.Tyr2332Phe) c.4379A>T (p.Tyr1460Phe) c.6980A>T (p.Tyr2327Phe) c.194A>T (p.Tyr65Phe) n.7092A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90692730T>A | CA360371640 | ADGRV1 | c.7077T>A (p.Tyr2359Ter) c.265+16521T>A (n.265+16521T>A) n.2536T>A c.884T>A n.221T>A c.4368T>A (p.Tyr1456Ter) c.1806T>A n.7090T>A c.7074T>A (p.Tyr2358Ter) c.6996T>A (p.Tyr2332Ter) c.4380T>A (p.Tyr1460Ter) c.6981T>A (p.Tyr2327Ter) c.195T>A (p.Tyr65Ter) n.7093T>A | |
5 | g.90692730T>C | CA445404546 | ADGRV1 | c.7077T>C (p.Tyr2359=) c.265+16521T>C (n.265+16521T>C) n.2536T>C c.884T>C n.221T>C c.4368T>C (p.Tyr1456=) c.1806T>C n.7090T>C c.7074T>C (p.Tyr2358=) c.6996T>C (p.Tyr2332=) c.4380T>C (p.Tyr1460=) c.6981T>C (p.Tyr2327=) c.195T>C (p.Tyr65=) n.7093T>C | |
5 | g.90692730T>G | CA360371644 | ADGRV1 | c.7077T>G (p.Tyr2359Ter) c.265+16521T>G (n.265+16521T>G) n.2536T>G c.884T>G n.221T>G c.4368T>G (p.Tyr1456Ter) c.1806T>G n.7090T>G c.7074T>G (p.Tyr2358Ter) c.6996T>G (p.Tyr2332Ter) c.4380T>G (p.Tyr1460Ter) c.6981T>G (p.Tyr2327Ter) c.195T>G (p.Tyr65Ter) n.7093T>G | |
5 | g.90692731C>A | CA360371649 | ADGRV1 | c.7078C>A (p.Arg2360Ser) c.265+16522C>A (n.265+16522C>A) n.2537C>A c.885C>A n.222C>A c.4369C>A (p.Arg1457Ser) c.1807C>A n.7091C>A c.7075C>A (p.Arg2359Ser) c.6997C>A (p.Arg2333Ser) c.4381C>A (p.Arg1461Ser) c.6982C>A (p.Arg2328Ser) c.196C>A (p.Arg66Ser) n.7094C>A | gnomAD v4 |
5 | g.90692731C= | CA1562859309 | ADGRV1 | c.7078C= (p.Arg2360=) c.265+16522C= (n.265+16522C=) n.2537C= c.885C= n.222C= c.4369C= (p.Arg1457=) c.1807C= n.7091C= c.7075C= (p.Arg2359=) c.6997C= (p.Arg2333=) c.4381C= (p.Arg1461=) c.6982C= (p.Arg2328=) c.196C= (p.Arg66=) n.7094C= | |
5 | g.90692731C>G | CA360371663 | ADGRV1 | c.7078C>G (p.Arg2360Gly) c.265+16522C>G (n.265+16522C>G) n.2537C>G c.885C>G n.222C>G c.4369C>G (p.Arg1457Gly) c.1807C>G n.7091C>G c.7075C>G (p.Arg2359Gly) c.6997C>G (p.Arg2333Gly) c.4381C>G (p.Arg1461Gly) c.6982C>G (p.Arg2328Gly) c.196C>G (p.Arg66Gly) n.7094C>G | |
5 | g.90692731C>T | CA3339963 | ADGRV1 | c.7078C>T (p.Arg2360Cys) c.265+16522C>T (n.265+16522C>T) n.2537C>T c.885C>T n.222C>T c.4369C>T (p.Arg1457Cys) c.1807C>T n.7091C>T c.7075C>T (p.Arg2359Cys) c.6997C>T (p.Arg2333Cys) c.4381C>T (p.Arg1461Cys) c.6982C>T (p.Arg2328Cys) c.196C>T (p.Arg66Cys) n.7094C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90692731_90692732delinsCG | CA1562859308 | ADGRV1 | c.7078_7079delinsCG (p.Arg2360=) c.265+16522_265+16523delinsCG (n.265+16522_265+16523delinsCG) n.2537_2538delinsCG c.885_886delinsCG n.222_223delinsCG c.4369_4370delinsCG (p.Arg1457=) c.1807_1808delinsCG n.7091_7092delinsCG c.7075_7076delinsCG (p.Arg2359=) c.6997_6998delinsCG (p.Arg2333=) c.4381_4382delinsCG (p.Arg1461=) c.6982_6983delinsCG (p.Arg2328=) c.196_197delinsCG (p.Arg66=) n.7094_7095delinsCG | |
5 | g.90692731_90692732delinsTA | CA1562859307 | ADGRV1 | c.7078_7079delinsTA (p.Arg2360Tyr) c.265+16522_265+16523delinsTA (n.265+16522_265+16523delinsTA) n.2537_2538delinsTA c.885_886delinsTA n.222_223delinsTA c.4369_4370delinsTA (p.Arg1457Tyr) c.1807_1808delinsTA n.7091_7092delinsTA c.7075_7076delinsTA (p.Arg2359Tyr) c.6997_6998delinsTA (p.Arg2333Tyr) c.4381_4382delinsTA (p.Arg1461Tyr) c.6982_6983delinsTA (p.Arg2328Tyr) c.196_197delinsTA (p.Arg66Tyr) n.7094_7095delinsTA | ClinVar dbSNP |