Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53386097G>ACA16044035DCCc.2414G>A (p.Gly805Glu)
c.2215G>A
c.2345G>A (p.Gly782Glu)
c.1379G>A (p.Gly460Glu)
ClinVar dbSNP
18g.53386097G>CCA402471676DCCc.2414G>C (p.Gly805Ala)
c.2215G>C
c.2345G>C (p.Gly782Ala)
c.1379G>C (p.Gly460Ala)
18g.53386097G=CA2304129495DCCc.2414G= (p.Gly805=)
c.2215G=
c.2345G= (p.Gly782=)
c.1379G= (p.Gly460=)
18g.53386097G>TCA402471677DCCc.2414G>T (p.Gly805Val)
c.2215G>T
c.2345G>T (p.Gly782Val)
c.1379G>T (p.Gly460Val)
18g.53386098A>CCA503875381DCCc.2415A>C (p.Gly805=)
c.2216A>C
c.2346A>C (p.Gly782=)
c.1380A>C (p.Gly460=)
18g.53386098A>GCA503875382DCCc.2415A>G (p.Gly805=)
c.2216A>G
c.2346A>G (p.Gly782=)
c.1380A>G (p.Gly460=)
18g.53386098A>TCA503875380DCCc.2415A>T (p.Gly805=)
c.2216A>T
c.2346A>T (p.Gly782=)
c.1380A>T (p.Gly460=)
18g.53386099G>ACA402471678DCCc.2416G>A (p.Val806Ile)
c.2217G>A
c.2347G>A (p.Val783Ile)
c.1381G>A (p.Val461Ile)
18g.53386099G>CCA402471679DCCc.2416G>C (p.Val806Leu)
c.2217G>C
c.2347G>C (p.Val783Leu)
c.1381G>C (p.Val461Leu)
18g.53386099G>TCA402471680DCCc.2416G>T (p.Val806Phe)
c.2217G>T
c.2347G>T (p.Val783Phe)
c.1381G>T (p.Val461Phe)
18g.53386100T>ACA402471681DCCc.2417T>A (p.Val806Asp)
c.2218T>A
c.2348T>A (p.Val783Asp)
c.1382T>A (p.Val461Asp)
18g.53386100T>CCA402471682DCCc.2417T>C (p.Val806Ala)
c.2218T>C
c.2348T>C (p.Val783Ala)
c.1382T>C (p.Val461Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53386100T>GCA402471683DCCc.2417T>G (p.Val806Gly)
c.2218T>G
c.2348T>G (p.Val783Gly)
c.1382T>G (p.Val461Gly)
18g.53386100T=CA2304129496DCCc.2417T= (p.Val806=)
c.2218T=
c.2348T= (p.Val783=)
c.1382T= (p.Val461=)
18g.53386101T>ACA503875383DCCc.2418T>A (p.Val806=)
c.2219T>A
c.2349T>A (p.Val783=)
c.1383T>A (p.Val461=)
18g.53386101T>CCA503875384DCCc.2418T>C (p.Val806=)
c.2219T>C
c.2349T>C (p.Val783=)
c.1383T>C (p.Val461=)
18g.53386101T>GCA503875385DCCc.2418T>G (p.Val806=)
c.2219T>G
c.2349T>G (p.Val783=)
c.1383T>G (p.Val461=)
18g.53386102C>ACA402471684DCCc.2419C>A (p.Pro807Thr)
c.2220C>A
c.2350C>A (p.Pro784Thr)
c.1384C>A (p.Pro462Thr)
18g.53386102C=CA2304129497DCCc.2419C= (p.Pro807=)
c.2220C=
c.2350C= (p.Pro784=)
c.1384C= (p.Pro462=)
18g.53386102C>GCA402471685DCCc.2419C>G (p.Pro807Ala)
c.2220C>G
c.2350C>G (p.Pro784Ala)
c.1384C>G (p.Pro462Ala)
dbSNP gnomAD v2 gnomAD v4
18g.53386102C>TCA402471686DCCc.2419C>T (p.Pro807Ser)
c.2220C>T
c.2350C>T (p.Pro784Ser)
c.1384C>T (p.Pro462Ser)
18g.53386103C>ACA402471687DCCc.2420C>A (p.Pro807His)
c.2221C>A
c.2351C>A (p.Pro784His)
c.1385C>A (p.Pro462His)
18g.53386103C=CA2304129498DCCc.2420C= (p.Pro807=)
c.2221C=
c.2351C= (p.Pro784=)
c.1385C= (p.Pro462=)
18g.53386103C>GCA402471688DCCc.2420C>G (p.Pro807Arg)
c.2221C>G
c.2351C>G (p.Pro784Arg)
c.1385C>G (p.Pro462Arg)
18g.53386103C>TCA402471689DCCc.2420C>T (p.Pro807Leu)
c.2221C>T
c.2351C>T (p.Pro784Leu)
c.1385C>T (p.Pro462Leu)
dbSNP gnomAD v2
18g.53386104T>ACA503875386DCCc.2421T>A (p.Pro807=)
c.2222T>A
c.2352T>A (p.Pro784=)
c.1386T>A (p.Pro462=)
18g.53386104T>CCA503875387DCCc.2421T>C (p.Pro807=)
c.2222T>C
c.2352T>C (p.Pro784=)
c.1386T>C (p.Pro462=)
gnomAD v4
18g.53386104T>GCA503875388DCCc.2421T>G (p.Pro807=)
c.2222T>G
c.2352T>G (p.Pro784=)
c.1386T>G (p.Pro462=)
18g.53386105C>ACA402471692DCCc.2422C>A (p.Leu808Ile)
c.2223C>A
c.2353C>A (p.Leu785Ile)
c.1387C>A (p.Leu463Ile)
18g.53386105C>GCA402471691DCCc.2422C>G (p.Leu808Val)
c.2223C>G
c.2353C>G (p.Leu785Val)
c.1387C>G (p.Leu463Val)
18g.53386105C>TCA402471690DCCc.2422C>T (p.Leu808Phe)
c.2223C>T
c.2353C>T (p.Leu785Phe)
c.1387C>T (p.Leu463Phe)
COSMIC COSMIC
18g.53386106T>ACA402471695DCCc.2423T>A (p.Leu808His)
c.2224T>A
c.2354T>A (p.Leu785His)
c.1388T>A (p.Leu463His)
COSMIC COSMIC
18g.53386106T>CCA402471693DCCc.2423T>C (p.Leu808Pro)
c.2224T>C
c.2354T>C (p.Leu785Pro)
c.1388T>C (p.Leu463Pro)
COSMIC COSMIC
18g.53386106T>GCA402471694DCCc.2423T>G (p.Leu808Arg)
c.2224T>G
c.2354T>G (p.Leu785Arg)
c.1388T>G (p.Leu463Arg)
18g.53386107T>ACA503875389DCCc.2424T>A (p.Leu808=)
c.2225T>A
c.2355T>A (p.Leu785=)
c.1389T>A (p.Leu463=)
18g.53386107T>CCA503875390DCCc.2424T>C (p.Leu808=)
c.2225T>C
c.2355T>C (p.Leu785=)
c.1389T>C (p.Leu463=)
18g.53386107T>GCA503875391DCCc.2424T>G (p.Leu808=)
c.2225T>G
c.2355T>G (p.Leu785=)
c.1389T>G (p.Leu463=)
18g.53386108T>ACA402471696DCCc.2425T>A (p.Tyr809Asn)
c.2226T>A
c.2356T>A (p.Tyr786Asn)
c.1390T>A (p.Tyr464Asn)
18g.53386108T>CCA402471697DCCc.2425T>C (p.Tyr809His)
c.2226T>C
c.2356T>C (p.Tyr786His)
c.1390T>C (p.Tyr464His)
18g.53386108T>GCA300690597DCCc.2425T>G (p.Tyr809Asp)
c.2226T>G
c.2356T>G (p.Tyr786Asp)
c.1390T>G (p.Tyr464Asp)
dbSNP
18g.53386108T=CA2304129499DCCc.2425T= (p.Tyr809=)
c.2226T=
c.2356T= (p.Tyr786=)
c.1390T= (p.Tyr464=)
18g.53386109A>CCA402471698DCCc.2426A>C (p.Tyr809Ser)
c.2227A>C
c.2357A>C (p.Tyr786Ser)
c.1391A>C (p.Tyr464Ser)
18g.53386109A>GCA402471699DCCc.2426A>G (p.Tyr809Cys)
c.2227A>G
c.2357A>G (p.Tyr786Cys)
c.1391A>G (p.Tyr464Cys)
18g.53386109A>TCA402471700DCCc.2426A>T (p.Tyr809Phe)
c.2227A>T
c.2357A>T (p.Tyr786Phe)
c.1391A>T (p.Tyr464Phe)
18g.53386110T>ACA402471701DCCc.2427T>A (p.Tyr809Ter)
c.2228T>A
c.2358T>A (p.Tyr786Ter)
c.1392T>A (p.Tyr464Ter)
18g.53386110T>CCA503875392DCCc.2427T>C (p.Tyr809=)
c.2228T>C
c.2358T>C (p.Tyr786=)
c.1392T>C (p.Tyr464=)
18g.53386110T>GCA402471702DCCc.2427T>G (p.Tyr809Ter)
c.2228T>G
c.2358T>G (p.Tyr786Ter)
c.1392T>G (p.Tyr464Ter)
18g.53386111G>ACA300690601DCCc.2428G>A (p.Glu810Lys)
c.2229G>A
c.2359G>A (p.Glu787Lys)
c.1393G>A (p.Glu465Lys)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.53386111G>CCA402471703DCCc.2428G>C (p.Glu810Gln)
c.2229G>C
c.2359G>C (p.Glu787Gln)
c.1393G>C (p.Glu465Gln)
18g.53386111G=CA2304129500DCCc.2428G= (p.Glu810=)
c.2229G=
c.2359G= (p.Glu787=)
c.1393G= (p.Glu465=)

Number of alleles fetched