Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |