Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90985401C>ACA360429157ADGRV1c.18031C>A (p.Leu6011Met)
c.6985C>A (p.Leu2329Met)
n.5298C>A
c.1243C>A
c.323C>A (n.323C>A)
c.115C>A (p.Leu39Met)
c.4480C>A (n.4480C>A)
c.5014C>A (p.Leu1672Met)
n.18044C>A
c.18028C>A (p.Leu6010Met)
c.17950C>A (p.Leu5984Met)
c.15334C>A (p.Leu5112Met)
c.18052C>A (p.Leu6018Met)
c.18049C>A (p.Leu6017Met)
c.17971C>A (p.Leu5991Met)
c.17956C>A (p.Leu5986Met)
c.17872C>A (p.Leu5958Met)
c.11170C>A (p.Leu3724Met)
c.11149C>A (p.Leu3717Met)
n.18047C>A
5g.90985401C>GCA360429158ADGRV1c.18031C>G (p.Leu6011Val)
c.6985C>G (p.Leu2329Val)
n.5298C>G
c.1243C>G
c.323C>G (n.323C>G)
c.115C>G (p.Leu39Val)
c.4480C>G (n.4480C>G)
c.5014C>G (p.Leu1672Val)
n.18044C>G
c.18028C>G (p.Leu6010Val)
c.17950C>G (p.Leu5984Val)
c.15334C>G (p.Leu5112Val)
c.18052C>G (p.Leu6018Val)
c.18049C>G (p.Leu6017Val)
c.17971C>G (p.Leu5991Val)
c.17956C>G (p.Leu5986Val)
c.17872C>G (p.Leu5958Val)
c.11170C>G (p.Leu3724Val)
c.11149C>G (p.Leu3717Val)
n.18047C>G
5g.90985401C>TCA445441044ADGRV1c.18031C>T (p.Leu6011=)
c.6985C>T (p.Leu2329=)
n.5298C>T
c.1243C>T
c.323C>T (n.323C>T)
c.115C>T (p.Leu39=)
c.4480C>T (n.4480C>T)
c.5014C>T (p.Leu1672=)
n.18044C>T
c.18028C>T (p.Leu6010=)
c.17950C>T (p.Leu5984=)
c.15334C>T (p.Leu5112=)
c.18052C>T (p.Leu6018=)
c.18049C>T (p.Leu6017=)
c.17971C>T (p.Leu5991=)
c.17956C>T (p.Leu5986=)
c.17872C>T (p.Leu5958=)
c.11170C>T (p.Leu3724=)
c.11149C>T (p.Leu3717=)
n.18047C>T
5g.90985402T>ACA360429159ADGRV1c.18032T>A (p.Leu6011Gln)
c.6986T>A (p.Leu2329Gln)
n.5299T>A
c.1244T>A
c.324T>A (n.324T>A)
c.116T>A (p.Leu39Gln)
c.4481T>A (n.4481T>A)
c.5015T>A (p.Leu1672Gln)
n.18045T>A
c.18029T>A (p.Leu6010Gln)
c.17951T>A (p.Leu5984Gln)
c.15335T>A (p.Leu5112Gln)
c.18053T>A (p.Leu6018Gln)
c.18050T>A (p.Leu6017Gln)
c.17972T>A (p.Leu5991Gln)
c.17957T>A (p.Leu5986Gln)
c.17873T>A (p.Leu5958Gln)
c.11171T>A (p.Leu3724Gln)
c.11150T>A (p.Leu3717Gln)
n.18048T>A
5g.90985402T>CCA360429160ADGRV1c.18032T>C (p.Leu6011Pro)
c.6986T>C (p.Leu2329Pro)
n.5299T>C
c.1244T>C
c.324T>C (n.324T>C)
c.116T>C (p.Leu39Pro)
c.4481T>C (n.4481T>C)
c.5015T>C (p.Leu1672Pro)
n.18045T>C
c.18029T>C (p.Leu6010Pro)
c.17951T>C (p.Leu5984Pro)
c.15335T>C (p.Leu5112Pro)
c.18053T>C (p.Leu6018Pro)
c.18050T>C (p.Leu6017Pro)
c.17972T>C (p.Leu5991Pro)
c.17957T>C (p.Leu5986Pro)
c.17873T>C (p.Leu5958Pro)
c.11171T>C (p.Leu3724Pro)
c.11150T>C (p.Leu3717Pro)
n.18048T>C
5g.90985402T>GCA360429161ADGRV1c.18032T>G (p.Leu6011Arg)
c.6986T>G (p.Leu2329Arg)
n.5299T>G
c.1244T>G
c.324T>G (n.324T>G)
c.116T>G (p.Leu39Arg)
c.4481T>G (n.4481T>G)
c.5015T>G (p.Leu1672Arg)
n.18045T>G
c.18029T>G (p.Leu6010Arg)
c.17951T>G (p.Leu5984Arg)
c.15335T>G (p.Leu5112Arg)
c.18053T>G (p.Leu6018Arg)
c.18050T>G (p.Leu6017Arg)
c.17972T>G (p.Leu5991Arg)
c.17957T>G (p.Leu5986Arg)
c.17873T>G (p.Leu5958Arg)
c.11171T>G (p.Leu3724Arg)
c.11150T>G (p.Leu3717Arg)
n.18048T>G
5g.90985403G>ACA3342544ADGRV1c.18033G>A (p.Leu6011=)
c.6987G>A (p.Leu2329=)
n.5300G>A
c.1245G>A
c.325G>A (n.325G>A)
c.117G>A (p.Leu39=)
c.4482G>A (n.4482G>A)
c.5016G>A (p.Leu1672=)
n.18046G>A
c.18030G>A (p.Leu6010=)
c.17952G>A (p.Leu5984=)
c.15336G>A (p.Leu5112=)
c.18054G>A (p.Leu6018=)
c.18051G>A (p.Leu6017=)
c.17973G>A (p.Leu5991=)
c.17958G>A (p.Leu5986=)
c.17874G>A (p.Leu5958=)
c.11172G>A (p.Leu3724=)
c.11151G>A (p.Leu3717=)
n.18049G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985403G>CCA445441053ADGRV1c.18033G>C (p.Leu6011=)
c.6987G>C (p.Leu2329=)
n.5300G>C
c.1245G>C
c.325G>C (n.325G>C)
c.117G>C (p.Leu39=)
c.4482G>C (n.4482G>C)
c.5016G>C (p.Leu1672=)
n.18046G>C
c.18030G>C (p.Leu6010=)
c.17952G>C (p.Leu5984=)
c.15336G>C (p.Leu5112=)
c.18054G>C (p.Leu6018=)
c.18051G>C (p.Leu6017=)
c.17973G>C (p.Leu5991=)
c.17958G>C (p.Leu5986=)
c.17874G>C (p.Leu5958=)
c.11172G>C (p.Leu3724=)
c.11151G>C (p.Leu3717=)
n.18049G>C
5g.90985403G=CA1562990370ADGRV1c.18033G= (p.Leu6011=)
c.6987G= (p.Leu2329=)
n.5300G=
c.1245G=
c.325G= (n.325G=)
c.117G= (p.Leu39=)
c.4482G= (n.4482G=)
c.5016G= (p.Leu1672=)
n.18046G=
c.18030G= (p.Leu6010=)
c.17952G= (p.Leu5984=)
c.15336G= (p.Leu5112=)
c.18054G= (p.Leu6018=)
c.18051G= (p.Leu6017=)
c.17973G= (p.Leu5991=)
c.17958G= (p.Leu5986=)
c.17874G= (p.Leu5958=)
c.11172G= (p.Leu3724=)
c.11151G= (p.Leu3717=)
n.18049G=
5g.90985403G>TCA445441051ADGRV1c.18033G>T (p.Leu6011=)
c.6987G>T (p.Leu2329=)
n.5300G>T
c.1245G>T
c.325G>T (n.325G>T)
c.117G>T (p.Leu39=)
c.4482G>T (n.4482G>T)
c.5016G>T (p.Leu1672=)
n.18046G>T
c.18030G>T (p.Leu6010=)
c.17952G>T (p.Leu5984=)
c.15336G>T (p.Leu5112=)
c.18054G>T (p.Leu6018=)
c.18051G>T (p.Leu6017=)
c.17973G>T (p.Leu5991=)
c.17958G>T (p.Leu5986=)
c.17874G>T (p.Leu5958=)
c.11172G>T (p.Leu3724=)
c.11151G>T (p.Leu3717=)
n.18049G>T
5g.90985404C>ACA360429162ADGRV1c.18034C>A (p.Leu6012Met)
c.6988C>A (p.Leu2330Met)
n.5301C>A
c.1246C>A
c.326C>A (n.326C>A)
c.118C>A (p.Leu40Met)
c.4483C>A (n.4483C>A)
c.5017C>A (p.Leu1673Met)
n.18047C>A
c.18031C>A (p.Leu6011Met)
c.17953C>A (p.Leu5985Met)
c.15337C>A (p.Leu5113Met)
c.18055C>A (p.Leu6019Met)
c.18052C>A (p.Leu6018Met)
c.17974C>A (p.Leu5992Met)
c.17959C>A (p.Leu5987Met)
c.17875C>A (p.Leu5959Met)
c.11173C>A (p.Leu3725Met)
c.11152C>A (p.Leu3718Met)
n.18050C>A
5g.90985404C=CA1562990375ADGRV1c.18034C= (p.Leu6012=)
c.6988C= (p.Leu2330=)
n.5301C=
c.1246C=
c.326C= (n.326C=)
c.118C= (p.Leu40=)
c.4483C= (n.4483C=)
c.5017C= (p.Leu1673=)
n.18047C=
c.18031C= (p.Leu6011=)
c.17953C= (p.Leu5985=)
c.15337C= (p.Leu5113=)
c.18055C= (p.Leu6019=)
c.18052C= (p.Leu6018=)
c.17974C= (p.Leu5992=)
c.17959C= (p.Leu5987=)
c.17875C= (p.Leu5959=)
c.11173C= (p.Leu3725=)
c.11152C= (p.Leu3718=)
n.18050C=
5g.90985404C>GCA360429163ADGRV1c.18034C>G (p.Leu6012Val)
c.6988C>G (p.Leu2330Val)
n.5301C>G
c.1246C>G
c.326C>G (n.326C>G)
c.118C>G (p.Leu40Val)
c.4483C>G (n.4483C>G)
c.5017C>G (p.Leu1673Val)
n.18047C>G
c.18031C>G (p.Leu6011Val)
c.17953C>G (p.Leu5985Val)
c.15337C>G (p.Leu5113Val)
c.18055C>G (p.Leu6019Val)
c.18052C>G (p.Leu6018Val)
c.17974C>G (p.Leu5992Val)
c.17959C>G (p.Leu5987Val)
c.17875C>G (p.Leu5959Val)
c.11173C>G (p.Leu3725Val)
c.11152C>G (p.Leu3718Val)
n.18050C>G
5g.90985404C>TCA445441056ADGRV1c.18034C>T (p.Leu6012=)
c.6988C>T (p.Leu2330=)
n.5301C>T
c.1246C>T
c.326C>T (n.326C>T)
c.118C>T (p.Leu40=)
c.4483C>T (n.4483C>T)
c.5017C>T (p.Leu1673=)
n.18047C>T
c.18031C>T (p.Leu6011=)
c.17953C>T (p.Leu5985=)
c.15337C>T (p.Leu5113=)
c.18055C>T (p.Leu6019=)
c.18052C>T (p.Leu6018=)
c.17974C>T (p.Leu5992=)
c.17959C>T (p.Leu5987=)
c.17875C>T (p.Leu5959=)
c.11173C>T (p.Leu3725=)
c.11152C>T (p.Leu3718=)
n.18050C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90985405T>ACA360429164ADGRV1c.18035T>A (p.Leu6012Gln)
c.6989T>A (p.Leu2330Gln)
n.5302T>A
c.1247T>A
c.327T>A (n.327T>A)
c.119T>A (p.Leu40Gln)
c.4484T>A (n.4484T>A)
c.5018T>A (p.Leu1673Gln)
n.18048T>A
c.18032T>A (p.Leu6011Gln)
c.17954T>A (p.Leu5985Gln)
c.15338T>A (p.Leu5113Gln)
c.18056T>A (p.Leu6019Gln)
c.18053T>A (p.Leu6018Gln)
c.17975T>A (p.Leu5992Gln)
c.17960T>A (p.Leu5987Gln)
c.17876T>A (p.Leu5959Gln)
c.11174T>A (p.Leu3725Gln)
c.11153T>A (p.Leu3718Gln)
n.18051T>A
5g.90985405T>CCA360429165ADGRV1c.18035T>C (p.Leu6012Pro)
c.6989T>C (p.Leu2330Pro)
n.5302T>C
c.1247T>C
c.327T>C (n.327T>C)
c.119T>C (p.Leu40Pro)
c.4484T>C (n.4484T>C)
c.5018T>C (p.Leu1673Pro)
n.18048T>C
c.18032T>C (p.Leu6011Pro)
c.17954T>C (p.Leu5985Pro)
c.15338T>C (p.Leu5113Pro)
c.18056T>C (p.Leu6019Pro)
c.18053T>C (p.Leu6018Pro)
c.17975T>C (p.Leu5992Pro)
c.17960T>C (p.Leu5987Pro)
c.17876T>C (p.Leu5959Pro)
c.11174T>C (p.Leu3725Pro)
c.11153T>C (p.Leu3718Pro)
n.18051T>C
5g.90985405T>GCA360429166ADGRV1c.18035T>G (p.Leu6012Arg)
c.6989T>G (p.Leu2330Arg)
n.5302T>G
c.1247T>G
c.327T>G (n.327T>G)
c.119T>G (p.Leu40Arg)
c.4484T>G (n.4484T>G)
c.5018T>G (p.Leu1673Arg)
n.18048T>G
c.18032T>G (p.Leu6011Arg)
c.17954T>G (p.Leu5985Arg)
c.15338T>G (p.Leu5113Arg)
c.18056T>G (p.Leu6019Arg)
c.18053T>G (p.Leu6018Arg)
c.17975T>G (p.Leu5992Arg)
c.17960T>G (p.Leu5987Arg)
c.17876T>G (p.Leu5959Arg)
c.11174T>G (p.Leu3725Arg)
c.11153T>G (p.Leu3718Arg)
n.18051T>G
5g.90985406G>ACA445441063ADGRV1c.18036G>A (p.Leu6012=)
c.6990G>A (p.Leu2330=)
n.5303G>A
c.1248G>A
c.328G>A (n.328G>A)
c.120G>A (p.Leu40=)
c.4485G>A (n.4485G>A)
c.5019G>A (p.Leu1673=)
n.18049G>A
c.18033G>A (p.Leu6011=)
c.17955G>A (p.Leu5985=)
c.15339G>A (p.Leu5113=)
c.18057G>A (p.Leu6019=)
c.18054G>A (p.Leu6018=)
c.17976G>A (p.Leu5992=)
c.17961G>A (p.Leu5987=)
c.17877G>A (p.Leu5959=)
c.11175G>A (p.Leu3725=)
c.11154G>A (p.Leu3718=)
n.18052G>A
 dbSNP
5g.90985406G>CCA445441065ADGRV1c.18036G>C (p.Leu6012=)
c.6990G>C (p.Leu2330=)
n.5303G>C
c.1248G>C
c.328G>C (n.328G>C)
c.120G>C (p.Leu40=)
c.4485G>C (n.4485G>C)
c.5019G>C (p.Leu1673=)
n.18049G>C
c.18033G>C (p.Leu6011=)
c.17955G>C (p.Leu5985=)
c.15339G>C (p.Leu5113=)
c.18057G>C (p.Leu6019=)
c.18054G>C (p.Leu6018=)
c.17976G>C (p.Leu5992=)
c.17961G>C (p.Leu5987=)
c.17877G>C (p.Leu5959=)
c.11175G>C (p.Leu3725=)
c.11154G>C (p.Leu3718=)
n.18052G>C
 gnomAD v4
5g.90985406G>TCA445441067ADGRV1c.18036G>T (p.Leu6012=)
c.6990G>T (p.Leu2330=)
n.5303G>T
c.1248G>T
c.328G>T (n.328G>T)
c.120G>T (p.Leu40=)
c.4485G>T (n.4485G>T)
c.5019G>T (p.Leu1673=)
n.18049G>T
c.18033G>T (p.Leu6011=)
c.17955G>T (p.Leu5985=)
c.15339G>T (p.Leu5113=)
c.18057G>T (p.Leu6019=)
c.18054G>T (p.Leu6018=)
c.17976G>T (p.Leu5992=)
c.17961G>T (p.Leu5987=)
c.17877G>T (p.Leu5959=)
c.11175G>T (p.Leu3725=)
c.11154G>T (p.Leu3718=)
n.18052G>T
5g.90985407T>ACA360429169ADGRV1c.18037T>A (p.Phe6013Ile)
c.6991T>A (p.Phe2331Ile)
n.5304T>A
c.1249T>A
c.329T>A (n.329T>A)
c.121T>A (p.Phe41Ile)
c.4486T>A (n.4486T>A)
c.5020T>A (p.Phe1674Ile)
n.18050T>A
c.18034T>A (p.Phe6012Ile)
c.17956T>A (p.Phe5986Ile)
c.15340T>A (p.Phe5114Ile)
c.18058T>A (p.Phe6020Ile)
c.18055T>A (p.Phe6019Ile)
c.17977T>A (p.Phe5993Ile)
c.17962T>A (p.Phe5988Ile)
c.17878T>A (p.Phe5960Ile)
c.11176T>A (p.Phe3726Ile)
c.11155T>A (p.Phe3719Ile)
n.18053T>A
5g.90985407T>CCA360429168ADGRV1c.18037T>C (p.Phe6013Leu)
c.6991T>C (p.Phe2331Leu)
n.5304T>C
c.1249T>C
c.329T>C (n.329T>C)
c.121T>C (p.Phe41Leu)
c.4486T>C (n.4486T>C)
c.5020T>C (p.Phe1674Leu)
n.18050T>C
c.18034T>C (p.Phe6012Leu)
c.17956T>C (p.Phe5986Leu)
c.15340T>C (p.Phe5114Leu)
c.18058T>C (p.Phe6020Leu)
c.18055T>C (p.Phe6019Leu)
c.17977T>C (p.Phe5993Leu)
c.17962T>C (p.Phe5988Leu)
c.17878T>C (p.Phe5960Leu)
c.11176T>C (p.Phe3726Leu)
c.11155T>C (p.Phe3719Leu)
n.18053T>C
5g.90985407T>GCA360429167ADGRV1c.18037T>G (p.Phe6013Val)
c.6991T>G (p.Phe2331Val)
n.5304T>G
c.1249T>G
c.329T>G (n.329T>G)
c.121T>G (p.Phe41Val)
c.4486T>G (n.4486T>G)
c.5020T>G (p.Phe1674Val)
n.18050T>G
c.18034T>G (p.Phe6012Val)
c.17956T>G (p.Phe5986Val)
c.15340T>G (p.Phe5114Val)
c.18058T>G (p.Phe6020Val)
c.18055T>G (p.Phe6019Val)
c.17977T>G (p.Phe5993Val)
c.17962T>G (p.Phe5988Val)
c.17878T>G (p.Phe5960Val)
c.11176T>G (p.Phe3726Val)
c.11155T>G (p.Phe3719Val)
n.18053T>G
5g.90985408T>ACA360429170ADGRV1c.18038T>A (p.Phe6013Tyr)
c.6992T>A (p.Phe2331Tyr)
n.5305T>A
c.1250T>A
c.330T>A (n.330T>A)
c.122T>A (p.Phe41Tyr)
c.4487T>A (n.4487T>A)
c.5021T>A (p.Phe1674Tyr)
n.18051T>A
c.18035T>A (p.Phe6012Tyr)
c.17957T>A (p.Phe5986Tyr)
c.15341T>A (p.Phe5114Tyr)
c.18059T>A (p.Phe6020Tyr)
c.18056T>A (p.Phe6019Tyr)
c.17978T>A (p.Phe5993Tyr)
c.17963T>A (p.Phe5988Tyr)
c.17879T>A (p.Phe5960Tyr)
c.11177T>A (p.Phe3726Tyr)
c.11156T>A (p.Phe3719Tyr)
n.18054T>A
5g.90985408T>CCA360429171ADGRV1c.18038T>C (p.Phe6013Ser)
c.6992T>C (p.Phe2331Ser)
n.5305T>C
c.1250T>C
c.330T>C (n.330T>C)
c.122T>C (p.Phe41Ser)
c.4487T>C (n.4487T>C)
c.5021T>C (p.Phe1674Ser)
n.18051T>C
c.18035T>C (p.Phe6012Ser)
c.17957T>C (p.Phe5986Ser)
c.15341T>C (p.Phe5114Ser)
c.18059T>C (p.Phe6020Ser)
c.18056T>C (p.Phe6019Ser)
c.17978T>C (p.Phe5993Ser)
c.17963T>C (p.Phe5988Ser)
c.17879T>C (p.Phe5960Ser)
c.11177T>C (p.Phe3726Ser)
c.11156T>C (p.Phe3719Ser)
n.18054T>C
 ClinVar dbSNP
5g.90985408T>GCA360429172ADGRV1c.18038T>G (p.Phe6013Cys)
c.6992T>G (p.Phe2331Cys)
n.5305T>G
c.1250T>G
c.330T>G (n.330T>G)
c.122T>G (p.Phe41Cys)
c.4487T>G (n.4487T>G)
c.5021T>G (p.Phe1674Cys)
n.18051T>G
c.18035T>G (p.Phe6012Cys)
c.17957T>G (p.Phe5986Cys)
c.15341T>G (p.Phe5114Cys)
c.18059T>G (p.Phe6020Cys)
c.18056T>G (p.Phe6019Cys)
c.17978T>G (p.Phe5993Cys)
c.17963T>G (p.Phe5988Cys)
c.17879T>G (p.Phe5960Cys)
c.11177T>G (p.Phe3726Cys)
c.11156T>G (p.Phe3719Cys)
n.18054T>G
5g.90985409T>ACA360429173ADGRV1c.18039T>A (p.Phe6013Leu)
c.6993T>A (p.Phe2331Leu)
n.5306T>A
c.1251T>A
c.331T>A (n.331T>A)
c.123T>A (p.Phe41Leu)
c.4488T>A (n.4488T>A)
c.5022T>A (p.Phe1674Leu)
n.18052T>A
c.18036T>A (p.Phe6012Leu)
c.17958T>A (p.Phe5986Leu)
c.15342T>A (p.Phe5114Leu)
c.18060T>A (p.Phe6020Leu)
c.18057T>A (p.Phe6019Leu)
c.17979T>A (p.Phe5993Leu)
c.17964T>A (p.Phe5988Leu)
c.17880T>A (p.Phe5960Leu)
c.11178T>A (p.Phe3726Leu)
c.11157T>A (p.Phe3719Leu)
n.18055T>A
5g.90985409T>CCA445441078ADGRV1c.18039T>C (p.Phe6013=)
c.6993T>C (p.Phe2331=)
n.5306T>C
c.1251T>C
c.331T>C (n.331T>C)
c.123T>C (p.Phe41=)
c.4488T>C (n.4488T>C)
c.5022T>C (p.Phe1674=)
n.18052T>C
c.18036T>C (p.Phe6012=)
c.17958T>C (p.Phe5986=)
c.15342T>C (p.Phe5114=)
c.18060T>C (p.Phe6020=)
c.18057T>C (p.Phe6019=)
c.17979T>C (p.Phe5993=)
c.17964T>C (p.Phe5988=)
c.17880T>C (p.Phe5960=)
c.11178T>C (p.Phe3726=)
c.11157T>C (p.Phe3719=)
n.18055T>C
5g.90985409T>GCA360429174ADGRV1c.18039T>G (p.Phe6013Leu)
c.6993T>G (p.Phe2331Leu)
n.5306T>G
c.1251T>G
c.331T>G (n.331T>G)
c.123T>G (p.Phe41Leu)
c.4488T>G (n.4488T>G)
c.5022T>G (p.Phe1674Leu)
n.18052T>G
c.18036T>G (p.Phe6012Leu)
c.17958T>G (p.Phe5986Leu)
c.15342T>G (p.Phe5114Leu)
c.18060T>G (p.Phe6020Leu)
c.18057T>G (p.Phe6019Leu)
c.17979T>G (p.Phe5993Leu)
c.17964T>G (p.Phe5988Leu)
c.17880T>G (p.Phe5960Leu)
c.11178T>G (p.Phe3726Leu)
c.11157T>G (p.Phe3719Leu)
n.18055T>G
5g.90985410T>ACA360429175ADGRV1c.18040T>A (p.Phe6014Ile)
c.6994T>A (p.Phe2332Ile)
n.5307T>A
c.1252T>A
c.332T>A (n.332T>A)
c.124T>A (p.Phe42Ile)
c.4489T>A (n.4489T>A)
c.5023T>A (p.Phe1675Ile)
n.18053T>A
c.18037T>A (p.Phe6013Ile)
c.17959T>A (p.Phe5987Ile)
c.15343T>A (p.Phe5115Ile)
c.18061T>A (p.Phe6021Ile)
c.18058T>A (p.Phe6020Ile)
c.17980T>A (p.Phe5994Ile)
c.17965T>A (p.Phe5989Ile)
c.17881T>A (p.Phe5961Ile)
c.11179T>A (p.Phe3727Ile)
c.11158T>A (p.Phe3720Ile)
n.18056T>A
5g.90985410T>CCA3342545ADGRV1c.18040T>C (p.Phe6014Leu)
c.6994T>C (p.Phe2332Leu)
n.5307T>C
c.1252T>C
c.332T>C (n.332T>C)
c.124T>C (p.Phe42Leu)
c.4489T>C (n.4489T>C)
c.5023T>C (p.Phe1675Leu)
n.18053T>C
c.18037T>C (p.Phe6013Leu)
c.17959T>C (p.Phe5987Leu)
c.15343T>C (p.Phe5115Leu)
c.18061T>C (p.Phe6021Leu)
c.18058T>C (p.Phe6020Leu)
c.17980T>C (p.Phe5994Leu)
c.17965T>C (p.Phe5989Leu)
c.17881T>C (p.Phe5961Leu)
c.11179T>C (p.Phe3727Leu)
c.11158T>C (p.Phe3720Leu)
n.18056T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985410T>GCA360429176ADGRV1c.18040T>G (p.Phe6014Val)
c.6994T>G (p.Phe2332Val)
n.5307T>G
c.1252T>G
c.332T>G (n.332T>G)
c.124T>G (p.Phe42Val)
c.4489T>G (n.4489T>G)
c.5023T>G (p.Phe1675Val)
n.18053T>G
c.18037T>G (p.Phe6013Val)
c.17959T>G (p.Phe5987Val)
c.15343T>G (p.Phe5115Val)
c.18061T>G (p.Phe6021Val)
c.18058T>G (p.Phe6020Val)
c.17980T>G (p.Phe5994Val)
c.17965T>G (p.Phe5989Val)
c.17881T>G (p.Phe5961Val)
c.11179T>G (p.Phe3727Val)
c.11158T>G (p.Phe3720Val)
n.18056T>G
5g.90985410T=CA1562990378ADGRV1c.18040T= (p.Phe6014=)
c.6994T= (p.Phe2332=)
n.5307T=
c.1252T=
c.332T= (n.332T=)
c.124T= (p.Phe42=)
c.4489T= (n.4489T=)
c.5023T= (p.Phe1675=)
n.18053T=
c.18037T= (p.Phe6013=)
c.17959T= (p.Phe5987=)
c.15343T= (p.Phe5115=)
c.18061T= (p.Phe6021=)
c.18058T= (p.Phe6020=)
c.17980T= (p.Phe5994=)
c.17965T= (p.Phe5989=)
c.17881T= (p.Phe5961=)
c.11179T= (p.Phe3727=)
c.11158T= (p.Phe3720=)
n.18056T=
5g.90985411T>ACA360429177ADGRV1c.18041T>A (p.Phe6014Tyr)
c.6995T>A (p.Phe2332Tyr)
n.5308T>A
c.1253T>A
c.333T>A (n.333T>A)
c.125T>A (p.Phe42Tyr)
c.4490T>A (n.4490T>A)
c.5024T>A (p.Phe1675Tyr)
n.18054T>A
c.18038T>A (p.Phe6013Tyr)
c.17960T>A (p.Phe5987Tyr)
c.15344T>A (p.Phe5115Tyr)
c.18062T>A (p.Phe6021Tyr)
c.18059T>A (p.Phe6020Tyr)
c.17981T>A (p.Phe5994Tyr)
c.17966T>A (p.Phe5989Tyr)
c.17882T>A (p.Phe5961Tyr)
c.11180T>A (p.Phe3727Tyr)
c.11159T>A (p.Phe3720Tyr)
n.18057T>A
5g.90985411T>CCA360429178ADGRV1c.18041T>C (p.Phe6014Ser)
c.6995T>C (p.Phe2332Ser)
n.5308T>C
c.1253T>C
c.333T>C (n.333T>C)
c.125T>C (p.Phe42Ser)
c.4490T>C (n.4490T>C)
c.5024T>C (p.Phe1675Ser)
n.18054T>C
c.18038T>C (p.Phe6013Ser)
c.17960T>C (p.Phe5987Ser)
c.15344T>C (p.Phe5115Ser)
c.18062T>C (p.Phe6021Ser)
c.18059T>C (p.Phe6020Ser)
c.17981T>C (p.Phe5994Ser)
c.17966T>C (p.Phe5989Ser)
c.17882T>C (p.Phe5961Ser)
c.11180T>C (p.Phe3727Ser)
c.11159T>C (p.Phe3720Ser)
n.18057T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90985411T>GCA360429179ADGRV1c.18041T>G (p.Phe6014Cys)
c.6995T>G (p.Phe2332Cys)
n.5308T>G
c.1253T>G
c.333T>G (n.333T>G)
c.125T>G (p.Phe42Cys)
c.4490T>G (n.4490T>G)
c.5024T>G (p.Phe1675Cys)
n.18054T>G
c.18038T>G (p.Phe6013Cys)
c.17960T>G (p.Phe5987Cys)
c.15344T>G (p.Phe5115Cys)
c.18062T>G (p.Phe6021Cys)
c.18059T>G (p.Phe6020Cys)
c.17981T>G (p.Phe5994Cys)
c.17966T>G (p.Phe5989Cys)
c.17882T>G (p.Phe5961Cys)
c.11180T>G (p.Phe3727Cys)
c.11159T>G (p.Phe3720Cys)
n.18057T>G
5g.90985411T=CA1562990381ADGRV1c.18041T= (p.Phe6014=)
c.6995T= (p.Phe2332=)
n.5308T=
c.1253T=
c.333T= (n.333T=)
c.125T= (p.Phe42=)
c.4490T= (n.4490T=)
c.5024T= (p.Phe1675=)
n.18054T=
c.18038T= (p.Phe6013=)
c.17960T= (p.Phe5987=)
c.15344T= (p.Phe5115=)
c.18062T= (p.Phe6021=)
c.18059T= (p.Phe6020=)
c.17981T= (p.Phe5994=)
c.17966T= (p.Phe5989=)
c.17882T= (p.Phe5961=)
c.11180T= (p.Phe3727=)
c.11159T= (p.Phe3720=)
n.18057T=
5g.90985412C>ACA360429180ADGRV1c.18042C>A (p.Phe6014Leu)
c.6996C>A (p.Phe2332Leu)
n.5309C>A
c.1254C>A
c.334C>A (n.334C>A)
c.126C>A (p.Phe42Leu)
c.4491C>A (n.4491C>A)
c.5025C>A (p.Phe1675Leu)
n.18055C>A
c.18039C>A (p.Phe6013Leu)
c.17961C>A (p.Phe5987Leu)
c.15345C>A (p.Phe5115Leu)
c.18063C>A (p.Phe6021Leu)
c.18060C>A (p.Phe6020Leu)
c.17982C>A (p.Phe5994Leu)
c.17967C>A (p.Phe5989Leu)
c.17883C>A (p.Phe5961Leu)
c.11181C>A (p.Phe3727Leu)
c.11160C>A (p.Phe3720Leu)
n.18058C>A
5g.90985412C>GCA360429181ADGRV1c.18042C>G (p.Phe6014Leu)
c.6996C>G (p.Phe2332Leu)
n.5309C>G
c.1254C>G
c.334C>G (n.334C>G)
c.126C>G (p.Phe42Leu)
c.4491C>G (n.4491C>G)
c.5025C>G (p.Phe1675Leu)
n.18055C>G
c.18039C>G (p.Phe6013Leu)
c.17961C>G (p.Phe5987Leu)
c.15345C>G (p.Phe5115Leu)
c.18063C>G (p.Phe6021Leu)
c.18060C>G (p.Phe6020Leu)
c.17982C>G (p.Phe5994Leu)
c.17967C>G (p.Phe5989Leu)
c.17883C>G (p.Phe5961Leu)
c.11181C>G (p.Phe3727Leu)
c.11160C>G (p.Phe3720Leu)
n.18058C>G
5g.90985412C>TCA445441090ADGRV1c.18042C>T (p.Phe6014=)
c.6996C>T (p.Phe2332=)
n.5309C>T
c.1254C>T
c.334C>T (n.334C>T)
c.126C>T (p.Phe42=)
c.4491C>T (n.4491C>T)
c.5025C>T (p.Phe1675=)
n.18055C>T
c.18039C>T (p.Phe6013=)
c.17961C>T (p.Phe5987=)
c.15345C>T (p.Phe5115=)
c.18063C>T (p.Phe6021=)
c.18060C>T (p.Phe6020=)
c.17982C>T (p.Phe5994=)
c.17967C>T (p.Phe5989=)
c.17883C>T (p.Phe5961=)
c.11181C>T (p.Phe3727=)
c.11160C>T (p.Phe3720=)
n.18058C>T
 COSMIC
5g.90985413C>ACA360429184ADGRV1c.18043C>A (p.Leu6015Ile)
c.6997C>A (p.Leu2333Ile)
n.5310C>A
c.1255C>A
c.335C>A (n.335C>A)
c.127C>A (p.Leu43Ile)
c.4492C>A (n.4492C>A)
c.5026C>A (p.Leu1676Ile)
n.18056C>A
c.18040C>A (p.Leu6014Ile)
c.17962C>A (p.Leu5988Ile)
c.15346C>A (p.Leu5116Ile)
c.18064C>A (p.Leu6022Ile)
c.18061C>A (p.Leu6021Ile)
c.17983C>A (p.Leu5995Ile)
c.17968C>A (p.Leu5990Ile)
c.17884C>A (p.Leu5962Ile)
c.11182C>A (p.Leu3728Ile)
c.11161C>A (p.Leu3721Ile)
n.18059C>A
5g.90985413C>GCA360429183ADGRV1c.18043C>G (p.Leu6015Val)
c.6997C>G (p.Leu2333Val)
n.5310C>G
c.1255C>G
c.335C>G (n.335C>G)
c.127C>G (p.Leu43Val)
c.4492C>G (n.4492C>G)
c.5026C>G (p.Leu1676Val)
n.18056C>G
c.18040C>G (p.Leu6014Val)
c.17962C>G (p.Leu5988Val)
c.15346C>G (p.Leu5116Val)
c.18064C>G (p.Leu6022Val)
c.18061C>G (p.Leu6021Val)
c.17983C>G (p.Leu5995Val)
c.17968C>G (p.Leu5990Val)
c.17884C>G (p.Leu5962Val)
c.11182C>G (p.Leu3728Val)
c.11161C>G (p.Leu3721Val)
n.18059C>G
5g.90985413C>TCA360429182ADGRV1c.18043C>T (p.Leu6015Phe)
c.6997C>T (p.Leu2333Phe)
n.5310C>T
c.1255C>T
c.335C>T (n.335C>T)
c.127C>T (p.Leu43Phe)
c.4492C>T (n.4492C>T)
c.5026C>T (p.Leu1676Phe)
n.18056C>T
c.18040C>T (p.Leu6014Phe)
c.17962C>T (p.Leu5988Phe)
c.15346C>T (p.Leu5116Phe)
c.18064C>T (p.Leu6022Phe)
c.18061C>T (p.Leu6021Phe)
c.17983C>T (p.Leu5995Phe)
c.17968C>T (p.Leu5990Phe)
c.17884C>T (p.Leu5962Phe)
c.11182C>T (p.Leu3728Phe)
c.11161C>T (p.Leu3721Phe)
n.18059C>T
 COSMIC
5g.90985414T>ACA360429186ADGRV1c.18044T>A (p.Leu6015His)
c.6998T>A (p.Leu2333His)
n.5311T>A
c.1256T>A
c.336T>A (n.336T>A)
c.128T>A (p.Leu43His)
c.4493T>A (n.4493T>A)
c.5027T>A (p.Leu1676His)
n.18057T>A
c.18041T>A (p.Leu6014His)
c.17963T>A (p.Leu5988His)
c.15347T>A (p.Leu5116His)
c.18065T>A (p.Leu6022His)
c.18062T>A (p.Leu6021His)
c.17984T>A (p.Leu5995His)
c.17969T>A (p.Leu5990His)
c.17885T>A (p.Leu5962His)
c.11183T>A (p.Leu3728His)
c.11162T>A (p.Leu3721His)
n.18060T>A
5g.90985414T>CCA360429185ADGRV1c.18044T>C (p.Leu6015Pro)
c.6998T>C (p.Leu2333Pro)
n.5311T>C
c.1256T>C
c.336T>C (n.336T>C)
c.128T>C (p.Leu43Pro)
c.4493T>C (n.4493T>C)
c.5027T>C (p.Leu1676Pro)
n.18057T>C
c.18041T>C (p.Leu6014Pro)
c.17963T>C (p.Leu5988Pro)
c.15347T>C (p.Leu5116Pro)
c.18065T>C (p.Leu6022Pro)
c.18062T>C (p.Leu6021Pro)
c.17984T>C (p.Leu5995Pro)
c.17969T>C (p.Leu5990Pro)
c.17885T>C (p.Leu5962Pro)
c.11183T>C (p.Leu3728Pro)
c.11162T>C (p.Leu3721Pro)
n.18060T>C
5g.90985414T>GCA360429187ADGRV1c.18044T>G (p.Leu6015Arg)
c.6998T>G (p.Leu2333Arg)
n.5311T>G
c.1256T>G
c.336T>G (n.336T>G)
c.128T>G (p.Leu43Arg)
c.4493T>G (n.4493T>G)
c.5027T>G (p.Leu1676Arg)
n.18057T>G
c.18041T>G (p.Leu6014Arg)
c.17963T>G (p.Leu5988Arg)
c.15347T>G (p.Leu5116Arg)
c.18065T>G (p.Leu6022Arg)
c.18062T>G (p.Leu6021Arg)
c.17984T>G (p.Leu5995Arg)
c.17969T>G (p.Leu5990Arg)
c.17885T>G (p.Leu5962Arg)
c.11183T>G (p.Leu3728Arg)
c.11162T>G (p.Leu3721Arg)
n.18060T>G
5g.90985415T>ACA3342546ADGRV1c.18045T>A (p.Leu6015=)
c.6999T>A (p.Leu2333=)
n.5312T>A
c.1257T>A
c.337T>A (n.337T>A)
c.129T>A (p.Leu43=)
c.4494T>A (n.4494T>A)
c.5028T>A (p.Leu1676=)
n.18058T>A
c.18042T>A (p.Leu6014=)
c.17964T>A (p.Leu5988=)
c.15348T>A (p.Leu5116=)
c.18066T>A (p.Leu6022=)
c.18063T>A (p.Leu6021=)
c.17985T>A (p.Leu5995=)
c.17970T>A (p.Leu5990=)
c.17886T>A (p.Leu5962=)
c.11184T>A (p.Leu3728=)
c.11163T>A (p.Leu3721=)
n.18061T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985415T>CCA445441098ADGRV1c.18045T>C (p.Leu6015=)
c.6999T>C (p.Leu2333=)
n.5312T>C
c.1257T>C
c.337T>C (n.337T>C)
c.129T>C (p.Leu43=)
c.4494T>C (n.4494T>C)
c.5028T>C (p.Leu1676=)
n.18058T>C
c.18042T>C (p.Leu6014=)
c.17964T>C (p.Leu5988=)
c.15348T>C (p.Leu5116=)
c.18066T>C (p.Leu6022=)
c.18063T>C (p.Leu6021=)
c.17985T>C (p.Leu5995=)
c.17970T>C (p.Leu5990=)
c.17886T>C (p.Leu5962=)
c.11184T>C (p.Leu3728=)
c.11163T>C (p.Leu3721=)
n.18061T>C
5g.90985415T>GCA445441100ADGRV1c.18045T>G (p.Leu6015=)
c.6999T>G (p.Leu2333=)
n.5312T>G
c.1257T>G
c.337T>G (n.337T>G)
c.129T>G (p.Leu43=)
c.4494T>G (n.4494T>G)
c.5028T>G (p.Leu1676=)
n.18058T>G
c.18042T>G (p.Leu6014=)
c.17964T>G (p.Leu5988=)
c.15348T>G (p.Leu5116=)
c.18066T>G (p.Leu6022=)
c.18063T>G (p.Leu6021=)
c.17985T>G (p.Leu5995=)
c.17970T>G (p.Leu5990=)
c.17886T>G (p.Leu5962=)
c.11184T>G (p.Leu3728=)
c.11163T>G (p.Leu3721=)
n.18061T>G
5g.90985415T=CA1562990384ADGRV1c.18045T= (p.Leu6015=)
c.6999T= (p.Leu2333=)
n.5312T=
c.1257T=
c.337T= (n.337T=)
c.129T= (p.Leu43=)
c.4494T= (n.4494T=)
c.5028T= (p.Leu1676=)
n.18058T=
c.18042T= (p.Leu6014=)
c.17964T= (p.Leu5988=)
c.15348T= (p.Leu5116=)
c.18066T= (p.Leu6022=)
c.18063T= (p.Leu6021=)
c.17985T= (p.Leu5995=)
c.17970T= (p.Leu5990=)
c.17886T= (p.Leu5962=)
c.11184T= (p.Leu3728=)
c.11163T= (p.Leu3721=)
n.18061T=
5g.90985416C>ACA360429188ADGRV1c.18046C>A (p.Leu6016Met)
c.7000C>A (p.Leu2334Met)
n.5313C>A
c.1258C>A
c.338C>A (n.338C>A)
c.130C>A (p.Leu44Met)
c.4495C>A (n.4495C>A)
c.5029C>A (p.Leu1677Met)
n.18059C>A
c.18043C>A (p.Leu6015Met)
c.17965C>A (p.Leu5989Met)
c.15349C>A (p.Leu5117Met)
c.18067C>A (p.Leu6023Met)
c.18064C>A (p.Leu6022Met)
c.17986C>A (p.Leu5996Met)
c.17971C>A (p.Leu5991Met)
c.17887C>A (p.Leu5963Met)
c.11185C>A (p.Leu3729Met)
c.11164C>A (p.Leu3722Met)
n.18062C>A
5g.90985416C>GCA360429189ADGRV1c.18046C>G (p.Leu6016Val)
c.7000C>G (p.Leu2334Val)
n.5313C>G
c.1258C>G
c.338C>G (n.338C>G)
c.130C>G (p.Leu44Val)
c.4495C>G (n.4495C>G)
c.5029C>G (p.Leu1677Val)
n.18059C>G
c.18043C>G (p.Leu6015Val)
c.17965C>G (p.Leu5989Val)
c.15349C>G (p.Leu5117Val)
c.18067C>G (p.Leu6023Val)
c.18064C>G (p.Leu6022Val)
c.17986C>G (p.Leu5996Val)
c.17971C>G (p.Leu5991Val)
c.17887C>G (p.Leu5963Val)
c.11185C>G (p.Leu3729Val)
c.11164C>G (p.Leu3722Val)
n.18062C>G
5g.90985416C>TCA445441104ADGRV1c.18046C>T (p.Leu6016=)
c.7000C>T (p.Leu2334=)
n.5313C>T
c.1258C>T
c.338C>T (n.338C>T)
c.130C>T (p.Leu44=)
c.4495C>T (n.4495C>T)
c.5029C>T (p.Leu1677=)
n.18059C>T
c.18043C>T (p.Leu6015=)
c.17965C>T (p.Leu5989=)
c.15349C>T (p.Leu5117=)
c.18067C>T (p.Leu6023=)
c.18064C>T (p.Leu6022=)
c.17986C>T (p.Leu5996=)
c.17971C>T (p.Leu5991=)
c.17887C>T (p.Leu5963=)
c.11185C>T (p.Leu3729=)
c.11164C>T (p.Leu3722=)
n.18062C>T
5g.90985417T>ACA360429190ADGRV1c.18047T>A (p.Leu6016Gln)
c.7001T>A (p.Leu2334Gln)
n.5314T>A
c.1259T>A
c.339T>A (n.339T>A)
c.131T>A (p.Leu44Gln)
c.4496T>A (n.4496T>A)
c.5030T>A (p.Leu1677Gln)
n.18060T>A
c.18044T>A (p.Leu6015Gln)
c.17966T>A (p.Leu5989Gln)
c.15350T>A (p.Leu5117Gln)
c.18068T>A (p.Leu6023Gln)
c.18065T>A (p.Leu6022Gln)
c.17987T>A (p.Leu5996Gln)
c.17972T>A (p.Leu5991Gln)
c.17888T>A (p.Leu5963Gln)
c.11186T>A (p.Leu3729Gln)
c.11165T>A (p.Leu3722Gln)
n.18063T>A
5g.90985417T>CCA360429191ADGRV1c.18047T>C (p.Leu6016Pro)
c.7001T>C (p.Leu2334Pro)
n.5314T>C
c.1259T>C
c.339T>C (n.339T>C)
c.131T>C (p.Leu44Pro)
c.4496T>C (n.4496T>C)
c.5030T>C (p.Leu1677Pro)
n.18060T>C
c.18044T>C (p.Leu6015Pro)
c.17966T>C (p.Leu5989Pro)
c.15350T>C (p.Leu5117Pro)
c.18068T>C (p.Leu6023Pro)
c.18065T>C (p.Leu6022Pro)
c.17987T>C (p.Leu5996Pro)
c.17972T>C (p.Leu5991Pro)
c.17888T>C (p.Leu5963Pro)
c.11186T>C (p.Leu3729Pro)
c.11165T>C (p.Leu3722Pro)
n.18063T>C
5g.90985417T>GCA360429192ADGRV1c.18047T>G (p.Leu6016Arg)
c.7001T>G (p.Leu2334Arg)
n.5314T>G
c.1259T>G
c.339T>G (n.339T>G)
c.131T>G (p.Leu44Arg)
c.4496T>G (n.4496T>G)
c.5030T>G (p.Leu1677Arg)
n.18060T>G
c.18044T>G (p.Leu6015Arg)
c.17966T>G (p.Leu5989Arg)
c.15350T>G (p.Leu5117Arg)
c.18068T>G (p.Leu6023Arg)
c.18065T>G (p.Leu6022Arg)
c.17987T>G (p.Leu5996Arg)
c.17972T>G (p.Leu5991Arg)
c.17888T>G (p.Leu5963Arg)
c.11186T>G (p.Leu3729Arg)
c.11165T>G (p.Leu3722Arg)
n.18063T>G
5g.90985418G>ACA445441114ADGRV1c.18048G>A (p.Leu6016=)
c.7002G>A (p.Leu2334=)
n.5315G>A
c.1260G>A
c.340G>A (n.340G>A)
c.132G>A (p.Leu44=)
c.4497G>A (n.4497G>A)
c.5031G>A (p.Leu1677=)
n.18061G>A
c.18045G>A (p.Leu6015=)
c.17967G>A (p.Leu5989=)
c.15351G>A (p.Leu5117=)
c.18069G>A (p.Leu6023=)
c.18066G>A (p.Leu6022=)
c.17988G>A (p.Leu5996=)
c.17973G>A (p.Leu5991=)
c.17889G>A (p.Leu5963=)
c.11187G>A (p.Leu3729=)
c.11166G>A (p.Leu3722=)
n.18064G>A
 ClinVar dbSNP gnomAD v4
5g.90985418G>CCA445441111ADGRV1c.18048G>C (p.Leu6016=)
c.7002G>C (p.Leu2334=)
n.5315G>C
c.1260G>C
c.340G>C (n.340G>C)
c.132G>C (p.Leu44=)
c.4497G>C (n.4497G>C)
c.5031G>C (p.Leu1677=)
n.18061G>C
c.18045G>C (p.Leu6015=)
c.17967G>C (p.Leu5989=)
c.15351G>C (p.Leu5117=)
c.18069G>C (p.Leu6023=)
c.18066G>C (p.Leu6022=)
c.17988G>C (p.Leu5996=)
c.17973G>C (p.Leu5991=)
c.17889G>C (p.Leu5963=)
c.11187G>C (p.Leu3729=)
c.11166G>C (p.Leu3722=)
n.18064G>C
 dbSNP gnomAD v4
5g.90985418G=CA1562990387ADGRV1c.18048G= (p.Leu6016=)
c.7002G= (p.Leu2334=)
n.5315G=
c.1260G=
c.340G= (n.340G=)
c.132G= (p.Leu44=)
c.4497G= (n.4497G=)
c.5031G= (p.Leu1677=)
n.18061G=
c.18045G= (p.Leu6015=)
c.17967G= (p.Leu5989=)
c.15351G= (p.Leu5117=)
c.18069G= (p.Leu6023=)
c.18066G= (p.Leu6022=)
c.17988G= (p.Leu5996=)
c.17973G= (p.Leu5991=)
c.17889G= (p.Leu5963=)
c.11187G= (p.Leu3729=)
c.11166G= (p.Leu3722=)
n.18064G=
5g.90985418G>TCA445441113ADGRV1c.18048G>T (p.Leu6016=)
c.7002G>T (p.Leu2334=)
n.5315G>T
c.1260G>T
c.340G>T (n.340G>T)
c.132G>T (p.Leu44=)
c.4497G>T (n.4497G>T)
c.5031G>T (p.Leu1677=)
n.18061G>T
c.18045G>T (p.Leu6015=)
c.17967G>T (p.Leu5989=)
c.15351G>T (p.Leu5117=)
c.18069G>T (p.Leu6023=)
c.18066G>T (p.Leu6022=)
c.17988G>T (p.Leu5996=)
c.17973G>T (p.Leu5991=)
c.17889G>T (p.Leu5963=)
c.11187G>T (p.Leu3729=)
c.11166G>T (p.Leu3722=)
n.18064G>T
5g.90985419A>CCA360429193ADGRV1c.18049A>C (p.Ser6017Arg)
c.7003A>C (p.Ser2335Arg)
n.5316A>C
c.1261A>C
c.341A>C (n.341A>C)
c.133A>C (p.Ser45Arg)
c.4498A>C (n.4498A>C)
c.5032A>C (p.Ser1678Arg)
n.18062A>C
c.18046A>C (p.Ser6016Arg)
c.17968A>C (p.Ser5990Arg)
c.15352A>C (p.Ser5118Arg)
c.18070A>C (p.Ser6024Arg)
c.18067A>C (p.Ser6023Arg)
c.17989A>C (p.Ser5997Arg)
c.17974A>C (p.Ser5992Arg)
c.17890A>C (p.Ser5964Arg)
c.11188A>C (p.Ser3730Arg)
c.11167A>C (p.Ser3723Arg)
n.18065A>C
5g.90985419A>GCA360429194ADGRV1c.18049A>G (p.Ser6017Gly)
c.7003A>G (p.Ser2335Gly)
n.5316A>G
c.1261A>G
c.341A>G (n.341A>G)
c.133A>G (p.Ser45Gly)
c.4498A>G (n.4498A>G)
c.5032A>G (p.Ser1678Gly)
n.18062A>G
c.18046A>G (p.Ser6016Gly)
c.17968A>G (p.Ser5990Gly)
c.15352A>G (p.Ser5118Gly)
c.18070A>G (p.Ser6024Gly)
c.18067A>G (p.Ser6023Gly)
c.17989A>G (p.Ser5997Gly)
c.17974A>G (p.Ser5992Gly)
c.17890A>G (p.Ser5964Gly)
c.11188A>G (p.Ser3730Gly)
c.11167A>G (p.Ser3723Gly)
n.18065A>G
5g.90985419A>TCA360429195ADGRV1c.18049A>T (p.Ser6017Cys)
c.7003A>T (p.Ser2335Cys)
n.5316A>T
c.1261A>T
c.341A>T (n.341A>T)
c.133A>T (p.Ser45Cys)
c.4498A>T (n.4498A>T)
c.5032A>T (p.Ser1678Cys)
n.18062A>T
c.18046A>T (p.Ser6016Cys)
c.17968A>T (p.Ser5990Cys)
c.15352A>T (p.Ser5118Cys)
c.18070A>T (p.Ser6024Cys)
c.18067A>T (p.Ser6023Cys)
c.17989A>T (p.Ser5997Cys)
c.17974A>T (p.Ser5992Cys)
c.17890A>T (p.Ser5964Cys)
c.11188A>T (p.Ser3730Cys)
c.11167A>T (p.Ser3723Cys)
n.18065A>T
5g.90985420G>ACA3342547ADGRV1c.18050G>A (p.Ser6017Asn)
c.7004G>A (p.Ser2335Asn)
n.5317G>A
c.1262G>A
c.342G>A (n.342G>A)
c.134G>A (p.Ser45Asn)
c.4499G>A (n.4499G>A)
c.5033G>A (p.Ser1678Asn)
n.18063G>A
c.18047G>A (p.Ser6016Asn)
c.17969G>A (p.Ser5990Asn)
c.15353G>A (p.Ser5118Asn)
c.18071G>A (p.Ser6024Asn)
c.18068G>A (p.Ser6023Asn)
c.17990G>A (p.Ser5997Asn)
c.17975G>A (p.Ser5992Asn)
c.17891G>A (p.Ser5964Asn)
c.11189G>A (p.Ser3730Asn)
c.11168G>A (p.Ser3723Asn)
n.18066G>A
 dbSNP ExAC gnomAD v2
5g.90985420G>CCA360429196ADGRV1c.18050G>C (p.Ser6017Thr)
c.7004G>C (p.Ser2335Thr)
n.5317G>C
c.1262G>C
c.342G>C (n.342G>C)
c.134G>C (p.Ser45Thr)
c.4499G>C (n.4499G>C)
c.5033G>C (p.Ser1678Thr)
n.18063G>C
c.18047G>C (p.Ser6016Thr)
c.17969G>C (p.Ser5990Thr)
c.15353G>C (p.Ser5118Thr)
c.18071G>C (p.Ser6024Thr)
c.18068G>C (p.Ser6023Thr)
c.17990G>C (p.Ser5997Thr)
c.17975G>C (p.Ser5992Thr)
c.17891G>C (p.Ser5964Thr)
c.11189G>C (p.Ser3730Thr)
c.11168G>C (p.Ser3723Thr)
n.18066G>C
5g.90985420G=CA1562990391ADGRV1c.18050G= (p.Ser6017=)
c.7004G= (p.Ser2335=)
n.5317G=
c.1262G=
c.342G= (n.342G=)
c.134G= (p.Ser45=)
c.4499G= (n.4499G=)
c.5033G= (p.Ser1678=)
n.18063G=
c.18047G= (p.Ser6016=)
c.17969G= (p.Ser5990=)
c.15353G= (p.Ser5118=)
c.18071G= (p.Ser6024=)
c.18068G= (p.Ser6023=)
c.17990G= (p.Ser5997=)
c.17975G= (p.Ser5992=)
c.17891G= (p.Ser5964=)
c.11189G= (p.Ser3730=)
c.11168G= (p.Ser3723=)
n.18066G=
5g.90985420G>TCA360429197ADGRV1c.18050G>T (p.Ser6017Ile)
c.7004G>T (p.Ser2335Ile)
n.5317G>T
c.1262G>T
c.342G>T (n.342G>T)
c.134G>T (p.Ser45Ile)
c.4499G>T (n.4499G>T)
c.5033G>T (p.Ser1678Ile)
n.18063G>T
c.18047G>T (p.Ser6016Ile)
c.17969G>T (p.Ser5990Ile)
c.15353G>T (p.Ser5118Ile)
c.18071G>T (p.Ser6024Ile)
c.18068G>T (p.Ser6023Ile)
c.17990G>T (p.Ser5997Ile)
c.17975G>T (p.Ser5992Ile)
c.17891G>T (p.Ser5964Ile)
c.11189G>T (p.Ser3730Ile)
c.11168G>T (p.Ser3723Ile)
n.18066G>T
5g.90985421T>ACA360429199ADGRV1c.18051T>A (p.Ser6017Arg)
c.7005T>A (p.Ser2335Arg)
n.5318T>A
c.1263T>A
c.343T>A (n.343T>A)
c.135T>A (p.Ser45Arg)
c.4500T>A (n.4500T>A)
c.5034T>A (p.Ser1678Arg)
n.18064T>A
c.18048T>A (p.Ser6016Arg)
c.17970T>A (p.Ser5990Arg)
c.15354T>A (p.Ser5118Arg)
c.18072T>A (p.Ser6024Arg)
c.18069T>A (p.Ser6023Arg)
c.17991T>A (p.Ser5997Arg)
c.17976T>A (p.Ser5992Arg)
c.17892T>A (p.Ser5964Arg)
c.11190T>A (p.Ser3730Arg)
c.11169T>A (p.Ser3723Arg)
n.18067T>A
 gnomAD v4
5g.90985421T>CCA3342548ADGRV1c.18051T>C (p.Ser6017=)
c.7005T>C (p.Ser2335=)
n.5318T>C
c.1263T>C
c.343T>C (n.343T>C)
c.135T>C (p.Ser45=)
c.4500T>C (n.4500T>C)
c.5034T>C (p.Ser1678=)
n.18064T>C
c.18048T>C (p.Ser6016=)
c.17970T>C (p.Ser5990=)
c.15354T>C (p.Ser5118=)
c.18072T>C (p.Ser6024=)
c.18069T>C (p.Ser6023=)
c.17991T>C (p.Ser5997=)
c.17976T>C (p.Ser5992=)
c.17892T>C (p.Ser5964=)
c.11190T>C (p.Ser3730=)
c.11169T>C (p.Ser3723=)
n.18067T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985421T>GCA360429198ADGRV1c.18051T>G (p.Ser6017Arg)
c.7005T>G (p.Ser2335Arg)
n.5318T>G
c.1263T>G
c.343T>G (n.343T>G)
c.135T>G (p.Ser45Arg)
c.4500T>G (n.4500T>G)
c.5034T>G (p.Ser1678Arg)
n.18064T>G
c.18048T>G (p.Ser6016Arg)
c.17970T>G (p.Ser5990Arg)
c.15354T>G (p.Ser5118Arg)
c.18072T>G (p.Ser6024Arg)
c.18069T>G (p.Ser6023Arg)
c.17991T>G (p.Ser5997Arg)
c.17976T>G (p.Ser5992Arg)
c.17892T>G (p.Ser5964Arg)
c.11190T>G (p.Ser3730Arg)
c.11169T>G (p.Ser3723Arg)
n.18067T>G
5g.90985421T=CA1562990395ADGRV1c.18051T= (p.Ser6017=)
c.7005T= (p.Ser2335=)
n.5318T=
c.1263T=
c.343T= (n.343T=)
c.135T= (p.Ser45=)
c.4500T= (n.4500T=)
c.5034T= (p.Ser1678=)
n.18064T=
c.18048T= (p.Ser6016=)
c.17970T= (p.Ser5990=)
c.15354T= (p.Ser5118=)
c.18072T= (p.Ser6024=)
c.18069T= (p.Ser6023=)
c.17991T= (p.Ser5997=)
c.17976T= (p.Ser5992=)
c.17892T= (p.Ser5964=)
c.11190T= (p.Ser3730=)
c.11169T= (p.Ser3723=)
n.18067T=
5g.90985422T>ACA360429200ADGRV1c.18052T>A (p.Trp6018Arg)
c.7006T>A (p.Trp2336Arg)
n.5319T>A
c.1264T>A
c.344T>A (n.344T>A)
c.136T>A (p.Trp46Arg)
c.4501T>A (n.4501T>A)
c.5035T>A (p.Trp1679Arg)
n.18065T>A
c.18049T>A (p.Trp6017Arg)
c.17971T>A (p.Trp5991Arg)
c.15355T>A (p.Trp5119Arg)
c.18073T>A (p.Trp6025Arg)
c.18070T>A (p.Trp6024Arg)
c.17992T>A (p.Trp5998Arg)
c.17977T>A (p.Trp5993Arg)
c.17893T>A (p.Trp5965Arg)
c.11191T>A (p.Trp3731Arg)
c.11170T>A (p.Trp3724Arg)
n.18068T>A
5g.90985422T>CCA3342549ADGRV1c.18052T>C (p.Trp6018Arg)
c.7006T>C (p.Trp2336Arg)
n.5319T>C
c.1264T>C
c.344T>C (n.344T>C)
c.136T>C (p.Trp46Arg)
c.4501T>C (n.4501T>C)
c.5035T>C (p.Trp1679Arg)
n.18065T>C
c.18049T>C (p.Trp6017Arg)
c.17971T>C (p.Trp5991Arg)
c.15355T>C (p.Trp5119Arg)
c.18073T>C (p.Trp6025Arg)
c.18070T>C (p.Trp6024Arg)
c.17992T>C (p.Trp5998Arg)
c.17977T>C (p.Trp5993Arg)
c.17893T>C (p.Trp5965Arg)
c.11191T>C (p.Trp3731Arg)
c.11170T>C (p.Trp3724Arg)
n.18068T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985422T>GCA360429201ADGRV1c.18052T>G (p.Trp6018Gly)
c.7006T>G (p.Trp2336Gly)
n.5319T>G
c.1264T>G
c.344T>G (n.344T>G)
c.136T>G (p.Trp46Gly)
c.4501T>G (n.4501T>G)
c.5035T>G (p.Trp1679Gly)
n.18065T>G
c.18049T>G (p.Trp6017Gly)
c.17971T>G (p.Trp5991Gly)
c.15355T>G (p.Trp5119Gly)
c.18073T>G (p.Trp6025Gly)
c.18070T>G (p.Trp6024Gly)
c.17992T>G (p.Trp5998Gly)
c.17977T>G (p.Trp5993Gly)
c.17893T>G (p.Trp5965Gly)
c.11191T>G (p.Trp3731Gly)
c.11170T>G (p.Trp3724Gly)
n.18068T>G
5g.90985422T=CA1562990396ADGRV1c.18052T= (p.Trp6018=)
c.7006T= (p.Trp2336=)
n.5319T=
c.1264T=
c.344T= (n.344T=)
c.136T= (p.Trp46=)
c.4501T= (n.4501T=)
c.5035T= (p.Trp1679=)
n.18065T=
c.18049T= (p.Trp6017=)
c.17971T= (p.Trp5991=)
c.15355T= (p.Trp5119=)
c.18073T= (p.Trp6025=)
c.18070T= (p.Trp6024=)
c.17992T= (p.Trp5998=)
c.17977T= (p.Trp5993=)
c.17893T= (p.Trp5965=)
c.11191T= (p.Trp3731=)
c.11170T= (p.Trp3724=)
n.18068T=
5g.90985423G>ACA360429202ADGRV1c.18053G>A (p.Trp6018Ter)
c.7007G>A (p.Trp2336Ter)
n.5320G>A
c.1265G>A
c.345G>A (n.345G>A)
c.137G>A (p.Trp46Ter)
c.4502G>A (n.4502G>A)
c.5036G>A (p.Trp1679Ter)
n.18066G>A
c.18050G>A (p.Trp6017Ter)
c.17972G>A (p.Trp5991Ter)
c.15356G>A (p.Trp5119Ter)
c.18074G>A (p.Trp6025Ter)
c.18071G>A (p.Trp6024Ter)
c.17993G>A (p.Trp5998Ter)
c.17978G>A (p.Trp5993Ter)
c.17894G>A (p.Trp5965Ter)
c.11192G>A (p.Trp3731Ter)
c.11171G>A (p.Trp3724Ter)
n.18069G>A
 gnomAD v4
5g.90985423G>CCA360429203ADGRV1c.18053G>C (p.Trp6018Ser)
c.7007G>C (p.Trp2336Ser)
n.5320G>C
c.1265G>C
c.345G>C (n.345G>C)
c.137G>C (p.Trp46Ser)
c.4502G>C (n.4502G>C)
c.5036G>C (p.Trp1679Ser)
n.18066G>C
c.18050G>C (p.Trp6017Ser)
c.17972G>C (p.Trp5991Ser)
c.15356G>C (p.Trp5119Ser)
c.18074G>C (p.Trp6025Ser)
c.18071G>C (p.Trp6024Ser)
c.17993G>C (p.Trp5998Ser)
c.17978G>C (p.Trp5993Ser)
c.17894G>C (p.Trp5965Ser)
c.11192G>C (p.Trp3731Ser)
c.11171G>C (p.Trp3724Ser)
n.18069G>C
5g.90985423G>TCA360429204ADGRV1c.18053G>T (p.Trp6018Leu)
c.7007G>T (p.Trp2336Leu)
n.5320G>T
c.1265G>T
c.345G>T (n.345G>T)
c.137G>T (p.Trp46Leu)
c.4502G>T (n.4502G>T)
c.5036G>T (p.Trp1679Leu)
n.18066G>T
c.18050G>T (p.Trp6017Leu)
c.17972G>T (p.Trp5991Leu)
c.15356G>T (p.Trp5119Leu)
c.18074G>T (p.Trp6025Leu)
c.18071G>T (p.Trp6024Leu)
c.17993G>T (p.Trp5998Leu)
c.17978G>T (p.Trp5993Leu)
c.17894G>T (p.Trp5965Leu)
c.11192G>T (p.Trp3731Leu)
c.11171G>T (p.Trp3724Leu)
n.18069G>T
 COSMIC
5g.90985425_90985426delCA2578360512ADGRV1c.18055_18056del (p.Gly6019ThrfsTer?)
c.7009_7010del (p.Gly2337ThrfsTer?)
n.5322_5323del
c.1267_1268del
c.347_348del (n.347_348del)
c.139_140del (p.Gly47ThrfsTer?)
c.4504_4505del (n.4504_4505del)
c.5038_5039del (p.Gly1680ThrfsTer?)
n.18068_18069del
c.18052_18053del (p.Gly6018ThrfsTer?)
c.17974_17975del (p.Gly5992ThrfsTer?)
c.15358_15359del (p.Gly5120ThrfsTer?)
c.18076_18077del (p.Gly6026ThrfsTer?)
c.18073_18074del (p.Gly6025ThrfsTer?)
c.17995_17996del (p.Gly5999ThrfsTer?)
c.17980_17981del (p.Gly5994ThrfsTer?)
c.17896_17897del (p.Gly5966ThrfsTer?)
c.11194_11195del (p.Gly3732ThrfsTer?)
c.11173_11174del (p.Gly3725ThrfsTer?)
n.18071_18072del
5g.90985424G>ACA360429205ADGRV1c.18054G>A (p.Trp6018Ter)
c.7008G>A (p.Trp2336Ter)
n.5321G>A
c.1266G>A
c.346G>A (n.346G>A)
c.138G>A (p.Trp46Ter)
c.4503G>A (n.4503G>A)
c.5037G>A (p.Trp1679Ter)
n.18067G>A
c.18051G>A (p.Trp6017Ter)
c.17973G>A (p.Trp5991Ter)
c.15357G>A (p.Trp5119Ter)
c.18075G>A (p.Trp6025Ter)
c.18072G>A (p.Trp6024Ter)
c.17994G>A (p.Trp5998Ter)
c.17979G>A (p.Trp5993Ter)
c.17895G>A (p.Trp5965Ter)
c.11193G>A (p.Trp3731Ter)
c.11172G>A (p.Trp3724Ter)
n.18070G>A
5g.90985424G>CCA360429206ADGRV1c.18054G>C (p.Trp6018Cys)
c.7008G>C (p.Trp2336Cys)
n.5321G>C
c.1266G>C
c.346G>C (n.346G>C)
c.138G>C (p.Trp46Cys)
c.4503G>C (n.4503G>C)
c.5037G>C (p.Trp1679Cys)
n.18067G>C
c.18051G>C (p.Trp6017Cys)
c.17973G>C (p.Trp5991Cys)
c.15357G>C (p.Trp5119Cys)
c.18075G>C (p.Trp6025Cys)
c.18072G>C (p.Trp6024Cys)
c.17994G>C (p.Trp5998Cys)
c.17979G>C (p.Trp5993Cys)
c.17895G>C (p.Trp5965Cys)
c.11193G>C (p.Trp3731Cys)
c.11172G>C (p.Trp3724Cys)
n.18070G>C
5g.90985424G>TCA360429207ADGRV1c.18054G>T (p.Trp6018Cys)
c.7008G>T (p.Trp2336Cys)
n.5321G>T
c.1266G>T
c.346G>T (n.346G>T)
c.138G>T (p.Trp46Cys)
c.4503G>T (n.4503G>T)
c.5037G>T (p.Trp1679Cys)
n.18067G>T
c.18051G>T (p.Trp6017Cys)
c.17973G>T (p.Trp5991Cys)
c.15357G>T (p.Trp5119Cys)
c.18075G>T (p.Trp6025Cys)
c.18072G>T (p.Trp6024Cys)
c.17994G>T (p.Trp5998Cys)
c.17979G>T (p.Trp5993Cys)
c.17895G>T (p.Trp5965Cys)
c.11193G>T (p.Trp3731Cys)
c.11172G>T (p.Trp3724Cys)
n.18070G>T
5g.90985425G>ACA360429208ADGRV1c.18055G>A (p.Gly6019Arg)
c.7009G>A (p.Gly2337Arg)
n.5322G>A
c.1267G>A
c.347G>A (n.347G>A)
c.139G>A (p.Gly47Arg)
c.4504G>A (n.4504G>A)
c.5038G>A (p.Gly1680Arg)
n.18068G>A
c.18052G>A (p.Gly6018Arg)
c.17974G>A (p.Gly5992Arg)
c.15358G>A (p.Gly5120Arg)
c.18076G>A (p.Gly6026Arg)
c.18073G>A (p.Gly6025Arg)
c.17995G>A (p.Gly5999Arg)
c.17980G>A (p.Gly5994Arg)
c.17896G>A (p.Gly5966Arg)
c.11194G>A (p.Gly3732Arg)
c.11173G>A (p.Gly3725Arg)
n.18071G>A
 COSMIC
5g.90985425G>CCA360429209ADGRV1c.18055G>C (p.Gly6019Arg)
c.7009G>C (p.Gly2337Arg)
n.5322G>C
c.1267G>C
c.347G>C (n.347G>C)
c.139G>C (p.Gly47Arg)
c.4504G>C (n.4504G>C)
c.5038G>C (p.Gly1680Arg)
n.18068G>C
c.18052G>C (p.Gly6018Arg)
c.17974G>C (p.Gly5992Arg)
c.15358G>C (p.Gly5120Arg)
c.18076G>C (p.Gly6026Arg)
c.18073G>C (p.Gly6025Arg)
c.17995G>C (p.Gly5999Arg)
c.17980G>C (p.Gly5994Arg)
c.17896G>C (p.Gly5966Arg)
c.11194G>C (p.Gly3732Arg)
c.11173G>C (p.Gly3725Arg)
n.18071G>C
5g.90985425G>TCA360429210ADGRV1c.18055G>T (p.Gly6019Ter)
c.7009G>T (p.Gly2337Ter)
n.5322G>T
c.1267G>T
c.347G>T (n.347G>T)
c.139G>T (p.Gly47Ter)
c.4504G>T (n.4504G>T)
c.5038G>T (p.Gly1680Ter)
n.18068G>T
c.18052G>T (p.Gly6018Ter)
c.17974G>T (p.Gly5992Ter)
c.15358G>T (p.Gly5120Ter)
c.18076G>T (p.Gly6026Ter)
c.18073G>T (p.Gly6025Ter)
c.17995G>T (p.Gly5999Ter)
c.17980G>T (p.Gly5994Ter)
c.17896G>T (p.Gly5966Ter)
c.11194G>T (p.Gly3732Ter)
c.11173G>T (p.Gly3725Ter)
n.18071G>T
5g.90985426G>ACA122930869ADGRV1c.18056G>A (p.Gly6019Glu)
c.7010G>A (p.Gly2337Glu)
n.5323G>A
c.1268G>A
c.348G>A (n.348G>A)
c.140G>A (p.Gly47Glu)
c.4505G>A (n.4505G>A)
c.5039G>A (p.Gly1680Glu)
n.18069G>A
c.18053G>A (p.Gly6018Glu)
c.17975G>A (p.Gly5992Glu)
c.15359G>A (p.Gly5120Glu)
c.18077G>A (p.Gly6026Glu)
c.18074G>A (p.Gly6025Glu)
c.17996G>A (p.Gly5999Glu)
c.17981G>A (p.Gly5994Glu)
c.17897G>A (p.Gly5966Glu)
c.11195G>A (p.Gly3732Glu)
c.11174G>A (p.Gly3725Glu)
n.18072G>A
 dbSNP
5g.90985426G>CCA360429212ADGRV1c.18056G>C (p.Gly6019Ala)
c.7010G>C (p.Gly2337Ala)
n.5323G>C
c.1268G>C
c.348G>C (n.348G>C)
c.140G>C (p.Gly47Ala)
c.4505G>C (n.4505G>C)
c.5039G>C (p.Gly1680Ala)
n.18069G>C
c.18053G>C (p.Gly6018Ala)
c.17975G>C (p.Gly5992Ala)
c.15359G>C (p.Gly5120Ala)
c.18077G>C (p.Gly6026Ala)
c.18074G>C (p.Gly6025Ala)
c.17996G>C (p.Gly5999Ala)
c.17981G>C (p.Gly5994Ala)
c.17897G>C (p.Gly5966Ala)
c.11195G>C (p.Gly3732Ala)
c.11174G>C (p.Gly3725Ala)
n.18072G>C
 gnomAD v4
5g.90985426G=CA1562990397ADGRV1c.18056G= (p.Gly6019=)
c.7010G= (p.Gly2337=)
n.5323G=
c.1268G=
c.348G= (n.348G=)
c.140G= (p.Gly47=)
c.4505G= (n.4505G=)
c.5039G= (p.Gly1680=)
n.18069G=
c.18053G= (p.Gly6018=)
c.17975G= (p.Gly5992=)
c.15359G= (p.Gly5120=)
c.18077G= (p.Gly6026=)
c.18074G= (p.Gly6025=)
c.17996G= (p.Gly5999=)
c.17981G= (p.Gly5994=)
c.17897G= (p.Gly5966=)
c.11195G= (p.Gly3732=)
c.11174G= (p.Gly3725=)
n.18072G=
5g.90985426G>TCA360429211ADGRV1c.18056G>T (p.Gly6019Val)
c.7010G>T (p.Gly2337Val)
n.5323G>T
c.1268G>T
c.348G>T (n.348G>T)
c.140G>T (p.Gly47Val)
c.4505G>T (n.4505G>T)
c.5039G>T (p.Gly1680Val)
n.18069G>T
c.18053G>T (p.Gly6018Val)
c.17975G>T (p.Gly5992Val)
c.15359G>T (p.Gly5120Val)
c.18077G>T (p.Gly6026Val)
c.18074G>T (p.Gly6025Val)
c.17996G>T (p.Gly5999Val)
c.17981G>T (p.Gly5994Val)
c.17897G>T (p.Gly5966Val)
c.11195G>T (p.Gly3732Val)
c.11174G>T (p.Gly3725Val)
n.18072G>T
 dbSNP gnomAD v4
5g.90985427A=CA1562990400ADGRV1c.18057A= (p.Gly6019=)
c.7011A= (p.Gly2337=)
n.5324A=
c.1269A=
c.349A= (n.349A=)
c.141A= (p.Gly47=)
c.4506A= (n.4506A=)
c.5040A= (p.Gly1680=)
n.18070A=
c.18054A= (p.Gly6018=)
c.17976A= (p.Gly5992=)
c.15360A= (p.Gly5120=)
c.18078A= (p.Gly6026=)
c.18075A= (p.Gly6025=)
c.17997A= (p.Gly5999=)
c.17982A= (p.Gly5994=)
c.17898A= (p.Gly5966=)
c.11196A= (p.Gly3732=)
c.11175A= (p.Gly3725=)
n.18073A=
5g.90985427A>CCA445441141ADGRV1c.18057A>C (p.Gly6019=)
c.7011A>C (p.Gly2337=)
n.5324A>C
c.1269A>C
c.349A>C (n.349A>C)
c.141A>C (p.Gly47=)
c.4506A>C (n.4506A>C)
c.5040A>C (p.Gly1680=)
n.18070A>C
c.18054A>C (p.Gly6018=)
c.17976A>C (p.Gly5992=)
c.15360A>C (p.Gly5120=)
c.18078A>C (p.Gly6026=)
c.18075A>C (p.Gly6025=)
c.17997A>C (p.Gly5999=)
c.17982A>C (p.Gly5994=)
c.17898A>C (p.Gly5966=)
c.11196A>C (p.Gly3732=)
c.11175A>C (p.Gly3725=)
n.18073A>C
 gnomAD v4
5g.90985427A>GCA122930872ADGRV1c.18057A>G (p.Gly6019=)
c.7011A>G (p.Gly2337=)
n.5324A>G
c.1269A>G
c.349A>G (n.349A>G)
c.141A>G (p.Gly47=)
c.4506A>G (n.4506A>G)
c.5040A>G (p.Gly1680=)
n.18070A>G
c.18054A>G (p.Gly6018=)
c.17976A>G (p.Gly5992=)
c.15360A>G (p.Gly5120=)
c.18078A>G (p.Gly6026=)
c.18075A>G (p.Gly6025=)
c.17997A>G (p.Gly5999=)
c.17982A>G (p.Gly5994=)
c.17898A>G (p.Gly5966=)
c.11196A>G (p.Gly3732=)
c.11175A>G (p.Gly3725=)
n.18073A>G
 dbSNP gnomAD v4
5g.90985427A>TCA445441144ADGRV1c.18057A>T (p.Gly6019=)
c.7011A>T (p.Gly2337=)
n.5324A>T
c.1269A>T
c.349A>T (n.349A>T)
c.141A>T (p.Gly47=)
c.4506A>T (n.4506A>T)
c.5040A>T (p.Gly1680=)
n.18070A>T
c.18054A>T (p.Gly6018=)
c.17976A>T (p.Gly5992=)
c.15360A>T (p.Gly5120=)
c.18078A>T (p.Gly6026=)
c.18075A>T (p.Gly6025=)
c.17997A>T (p.Gly5999=)
c.17982A>T (p.Gly5994=)
c.17898A>T (p.Gly5966=)
c.11196A>T (p.Gly3732=)
c.11175A>T (p.Gly3725=)
n.18073A>T
5g.90985428C>ACA360429213ADGRV1c.18058C>A (p.Leu6020Ile)
c.7012C>A (p.Leu2338Ile)
n.5325C>A
c.1270C>A
c.350C>A (n.350C>A)
c.142C>A (p.Leu48Ile)
c.4507C>A (n.4507C>A)
c.5041C>A (p.Leu1681Ile)
n.18071C>A
c.18055C>A (p.Leu6019Ile)
c.17977C>A (p.Leu5993Ile)
c.15361C>A (p.Leu5121Ile)
c.18079C>A (p.Leu6027Ile)
c.18076C>A (p.Leu6026Ile)
c.17998C>A (p.Leu6000Ile)
c.17983C>A (p.Leu5995Ile)
c.17899C>A (p.Leu5967Ile)
c.11197C>A (p.Leu3733Ile)
c.11176C>A (p.Leu3726Ile)
n.18074C>A
 dbSNP
5g.90985428C=CA1562990403ADGRV1c.18058C= (p.Leu6020=)
c.7012C= (p.Leu2338=)
n.5325C=
c.1270C=
c.350C= (n.350C=)
c.142C= (p.Leu48=)
c.4507C= (n.4507C=)
c.5041C= (p.Leu1681=)
n.18071C=
c.18055C= (p.Leu6019=)
c.17977C= (p.Leu5993=)
c.15361C= (p.Leu5121=)
c.18079C= (p.Leu6027=)
c.18076C= (p.Leu6026=)
c.17998C= (p.Leu6000=)
c.17983C= (p.Leu5995=)
c.17899C= (p.Leu5967=)
c.11197C= (p.Leu3733=)
c.11176C= (p.Leu3726=)
n.18074C=
5g.90985428C>GCA360429214ADGRV1c.18058C>G (p.Leu6020Val)
c.7012C>G (p.Leu2338Val)
n.5325C>G
c.1270C>G
c.350C>G (n.350C>G)
c.142C>G (p.Leu48Val)
c.4507C>G (n.4507C>G)
c.5041C>G (p.Leu1681Val)
n.18071C>G
c.18055C>G (p.Leu6019Val)
c.17977C>G (p.Leu5993Val)
c.15361C>G (p.Leu5121Val)
c.18079C>G (p.Leu6027Val)
c.18076C>G (p.Leu6026Val)
c.17998C>G (p.Leu6000Val)
c.17983C>G (p.Leu5995Val)
c.17899C>G (p.Leu5967Val)
c.11197C>G (p.Leu3733Val)
c.11176C>G (p.Leu3726Val)
n.18074C>G
 dbSNP gnomAD v2 gnomAD v4
5g.90985428C>TCA445441151ADGRV1c.18058C>T (p.Leu6020=)
c.7012C>T (p.Leu2338=)
n.5325C>T
c.1270C>T
c.350C>T (n.350C>T)
c.142C>T (p.Leu48=)
c.4507C>T (n.4507C>T)
c.5041C>T (p.Leu1681=)
n.18071C>T
c.18055C>T (p.Leu6019=)
c.17977C>T (p.Leu5993=)
c.15361C>T (p.Leu5121=)
c.18079C>T (p.Leu6027=)
c.18076C>T (p.Leu6026=)
c.17998C>T (p.Leu6000=)
c.17983C>T (p.Leu5995=)
c.17899C>T (p.Leu5967=)
c.11197C>T (p.Leu3733=)
c.11176C>T (p.Leu3726=)
n.18074C>T
5g.90985429T>ACA360429215ADGRV1c.18059T>A (p.Leu6020Gln)
c.7013T>A (p.Leu2338Gln)
n.5326T>A
c.1271T>A
c.351T>A (n.351T>A)
c.143T>A (p.Leu48Gln)
c.4508T>A (n.4508T>A)
c.5042T>A (p.Leu1681Gln)
n.18072T>A
c.18056T>A (p.Leu6019Gln)
c.17978T>A (p.Leu5993Gln)
c.15362T>A (p.Leu5121Gln)
c.18080T>A (p.Leu6027Gln)
c.18077T>A (p.Leu6026Gln)
c.17999T>A (p.Leu6000Gln)
c.17984T>A (p.Leu5995Gln)
c.17900T>A (p.Leu5967Gln)
c.11198T>A (p.Leu3733Gln)
c.11177T>A (p.Leu3726Gln)
n.18075T>A
5g.90985429T>CCA360429216ADGRV1c.18059T>C (p.Leu6020Pro)
c.7013T>C (p.Leu2338Pro)
n.5326T>C
c.1271T>C
c.351T>C (n.351T>C)
c.143T>C (p.Leu48Pro)
c.4508T>C (n.4508T>C)
c.5042T>C (p.Leu1681Pro)
n.18072T>C
c.18056T>C (p.Leu6019Pro)
c.17978T>C (p.Leu5993Pro)
c.15362T>C (p.Leu5121Pro)
c.18080T>C (p.Leu6027Pro)
c.18077T>C (p.Leu6026Pro)
c.17999T>C (p.Leu6000Pro)
c.17984T>C (p.Leu5995Pro)
c.17900T>C (p.Leu5967Pro)
c.11198T>C (p.Leu3733Pro)
c.11177T>C (p.Leu3726Pro)
n.18075T>C
 ClinVar dbSNP
5g.90985429T>GCA360429217ADGRV1c.18059T>G (p.Leu6020Arg)
c.7013T>G (p.Leu2338Arg)
n.5326T>G
c.1271T>G
c.351T>G (n.351T>G)
c.143T>G (p.Leu48Arg)
c.4508T>G (n.4508T>G)
c.5042T>G (p.Leu1681Arg)
n.18072T>G
c.18056T>G (p.Leu6019Arg)
c.17978T>G (p.Leu5993Arg)
c.15362T>G (p.Leu5121Arg)
c.18080T>G (p.Leu6027Arg)
c.18077T>G (p.Leu6026Arg)
c.17999T>G (p.Leu6000Arg)
c.17984T>G (p.Leu5995Arg)
c.17900T>G (p.Leu5967Arg)
c.11198T>G (p.Leu3733Arg)
c.11177T>G (p.Leu3726Arg)
n.18075T>G
5g.90985429T=CA1562990406ADGRV1c.18059T= (p.Leu6020=)
c.7013T= (p.Leu2338=)
n.5326T=
c.1271T=
c.351T= (n.351T=)
c.143T= (p.Leu48=)
c.4508T= (n.4508T=)
c.5042T= (p.Leu1681=)
n.18072T=
c.18056T= (p.Leu6019=)
c.17978T= (p.Leu5993=)
c.15362T= (p.Leu5121=)
c.18080T= (p.Leu6027=)
c.18077T= (p.Leu6026=)
c.17999T= (p.Leu6000=)
c.17984T= (p.Leu5995=)
c.17900T= (p.Leu5967=)
c.11198T= (p.Leu3733=)
c.11177T= (p.Leu3726=)
n.18075T=
5g.90985430A=CA1562990409ADGRV1c.18060A= (p.Leu6020=)
c.7014A= (p.Leu2338=)
n.5327A=
c.1272A=
c.352A= (n.352A=)
c.144A= (p.Leu48=)
c.4509A= (n.4509A=)
c.5043A= (p.Leu1681=)
n.18073A=
c.18057A= (p.Leu6019=)
c.17979A= (p.Leu5993=)
c.15363A= (p.Leu5121=)
c.18081A= (p.Leu6027=)
c.18078A= (p.Leu6026=)
c.18000A= (p.Leu6000=)
c.17985A= (p.Leu5995=)
c.17901A= (p.Leu5967=)
c.11199A= (p.Leu3733=)
c.11178A= (p.Leu3726=)
n.18076A=
5g.90985430A>CCA445441155ADGRV1c.18060A>C (p.Leu6020=)
c.7014A>C (p.Leu2338=)
n.5327A>C
c.1272A>C
c.352A>C (n.352A>C)
c.144A>C (p.Leu48=)
c.4509A>C (n.4509A>C)
c.5043A>C (p.Leu1681=)
n.18073A>C
c.18057A>C (p.Leu6019=)
c.17979A>C (p.Leu5993=)
c.15363A>C (p.Leu5121=)
c.18081A>C (p.Leu6027=)
c.18078A>C (p.Leu6026=)
c.18000A>C (p.Leu6000=)
c.17985A>C (p.Leu5995=)
c.17901A>C (p.Leu5967=)
c.11199A>C (p.Leu3733=)
c.11178A>C (p.Leu3726=)
n.18076A>C
5g.90985430A>GCA445441156ADGRV1c.18060A>G (p.Leu6020=)
c.7014A>G (p.Leu2338=)
n.5327A>G
c.1272A>G
c.352A>G (n.352A>G)
c.144A>G (p.Leu48=)
c.4509A>G (n.4509A>G)
c.5043A>G (p.Leu1681=)
n.18073A>G
c.18057A>G (p.Leu6019=)
c.17979A>G (p.Leu5993=)
c.15363A>G (p.Leu5121=)
c.18081A>G (p.Leu6027=)
c.18078A>G (p.Leu6026=)
c.18000A>G (p.Leu6000=)
c.17985A>G (p.Leu5995=)
c.17901A>G (p.Leu5967=)
c.11199A>G (p.Leu3733=)
c.11178A>G (p.Leu3726=)
n.18076A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90985430A>TCA445441157ADGRV1c.18060A>T (p.Leu6020=)
c.7014A>T (p.Leu2338=)
n.5327A>T
c.1272A>T
c.352A>T (n.352A>T)
c.144A>T (p.Leu48=)
c.4509A>T (n.4509A>T)
c.5043A>T (p.Leu1681=)
n.18073A>T
c.18057A>T (p.Leu6019=)
c.17979A>T (p.Leu5993=)
c.15363A>T (p.Leu5121=)
c.18081A>T (p.Leu6027=)
c.18078A>T (p.Leu6026=)
c.18000A>T (p.Leu6000=)
c.17985A>T (p.Leu5995=)
c.17901A>T (p.Leu5967=)
c.11199A>T (p.Leu3733=)
c.11178A>T (p.Leu3726=)
n.18076A>T
5g.90985431C>ACA360429220ADGRV1c.18061C>A (p.Pro6021Thr)
c.7015C>A (p.Pro2339Thr)
n.5328C>A
c.1273C>A
c.353C>A (n.353C>A)
c.145C>A (p.Pro49Thr)
c.4510C>A (n.4510C>A)
c.5044C>A (p.Pro1682Thr)
n.18074C>A
c.18058C>A (p.Pro6020Thr)
c.17980C>A (p.Pro5994Thr)
c.15364C>A (p.Pro5122Thr)
c.18082C>A (p.Pro6028Thr)
c.18079C>A (p.Pro6027Thr)
c.18001C>A (p.Pro6001Thr)
c.17986C>A (p.Pro5996Thr)
c.17902C>A (p.Pro5968Thr)
c.11200C>A (p.Pro3734Thr)
c.11179C>A (p.Pro3727Thr)
n.18077C>A
 gnomAD v4
5g.90985431C>GCA360429219ADGRV1c.18061C>G (p.Pro6021Ala)
c.7015C>G (p.Pro2339Ala)
n.5328C>G
c.1273C>G
c.353C>G (n.353C>G)
c.145C>G (p.Pro49Ala)
c.4510C>G (n.4510C>G)
c.5044C>G (p.Pro1682Ala)
n.18074C>G
c.18058C>G (p.Pro6020Ala)
c.17980C>G (p.Pro5994Ala)
c.15364C>G (p.Pro5122Ala)
c.18082C>G (p.Pro6028Ala)
c.18079C>G (p.Pro6027Ala)
c.18001C>G (p.Pro6001Ala)
c.17986C>G (p.Pro5996Ala)
c.17902C>G (p.Pro5968Ala)
c.11200C>G (p.Pro3734Ala)
c.11179C>G (p.Pro3727Ala)
n.18077C>G
5g.90985431C>TCA360429218ADGRV1c.18061C>T (p.Pro6021Ser)
c.7015C>T (p.Pro2339Ser)
n.5328C>T
c.1273C>T
c.353C>T (n.353C>T)
c.145C>T (p.Pro49Ser)
c.4510C>T (n.4510C>T)
c.5044C>T (p.Pro1682Ser)
n.18074C>T
c.18058C>T (p.Pro6020Ser)
c.17980C>T (p.Pro5994Ser)
c.15364C>T (p.Pro5122Ser)
c.18082C>T (p.Pro6028Ser)
c.18079C>T (p.Pro6027Ser)
c.18001C>T (p.Pro6001Ser)
c.17986C>T (p.Pro5996Ser)
c.17902C>T (p.Pro5968Ser)
c.11200C>T (p.Pro3734Ser)
c.11179C>T (p.Pro3727Ser)
n.18077C>T
5g.90985432C>ACA360429221ADGRV1c.18062C>A (p.Pro6021Gln)
c.7016C>A (p.Pro2339Gln)
n.5329C>A
c.1274C>A
c.354C>A (n.354C>A)
c.146C>A (p.Pro49Gln)
c.4511C>A (n.4511C>A)
c.5045C>A (p.Pro1682Gln)
n.18075C>A
c.18059C>A (p.Pro6020Gln)
c.17981C>A (p.Pro5994Gln)
c.15365C>A (p.Pro5122Gln)
c.18083C>A (p.Pro6028Gln)
c.18080C>A (p.Pro6027Gln)
c.18002C>A (p.Pro6001Gln)
c.17987C>A (p.Pro5996Gln)
c.17903C>A (p.Pro5968Gln)
c.11201C>A (p.Pro3734Gln)
c.11180C>A (p.Pro3727Gln)
n.18078C>A
5g.90985432C>GCA360429222ADGRV1c.18062C>G (p.Pro6021Arg)
c.7016C>G (p.Pro2339Arg)
n.5329C>G
c.1274C>G
c.354C>G (n.354C>G)
c.146C>G (p.Pro49Arg)
c.4511C>G (n.4511C>G)
c.5045C>G (p.Pro1682Arg)
n.18075C>G
c.18059C>G (p.Pro6020Arg)
c.17981C>G (p.Pro5994Arg)
c.15365C>G (p.Pro5122Arg)
c.18083C>G (p.Pro6028Arg)
c.18080C>G (p.Pro6027Arg)
c.18002C>G (p.Pro6001Arg)
c.17987C>G (p.Pro5996Arg)
c.17903C>G (p.Pro5968Arg)
c.11201C>G (p.Pro3734Arg)
c.11180C>G (p.Pro3727Arg)
n.18078C>G
5g.90985432C>TCA360429223ADGRV1c.18062C>T (p.Pro6021Leu)
c.7016C>T (p.Pro2339Leu)
n.5329C>T
c.1274C>T
c.354C>T (n.354C>T)
c.146C>T (p.Pro49Leu)
c.4511C>T (n.4511C>T)
c.5045C>T (p.Pro1682Leu)
n.18075C>T
c.18059C>T (p.Pro6020Leu)
c.17981C>T (p.Pro5994Leu)
c.15365C>T (p.Pro5122Leu)
c.18083C>T (p.Pro6028Leu)
c.18080C>T (p.Pro6027Leu)
c.18002C>T (p.Pro6001Leu)
c.17987C>T (p.Pro5996Leu)
c.17903C>T (p.Pro5968Leu)
c.11201C>T (p.Pro3734Leu)
c.11180C>T (p.Pro3727Leu)
n.18078C>T
5g.90985433A>CCA445441163ADGRV1c.18063A>C (p.Pro6021=)
c.7017A>C (p.Pro2339=)
n.5330A>C
c.1275A>C
c.355A>C (n.355A>C)
c.147A>C (p.Pro49=)
c.4512A>C (n.4512A>C)
c.5046A>C (p.Pro1682=)
n.18076A>C
c.18060A>C (p.Pro6020=)
c.17982A>C (p.Pro5994=)
c.15366A>C (p.Pro5122=)
c.18084A>C (p.Pro6028=)
c.18081A>C (p.Pro6027=)
c.18003A>C (p.Pro6001=)
c.17988A>C (p.Pro5996=)
c.17904A>C (p.Pro5968=)
c.11202A>C (p.Pro3734=)
c.11181A>C (p.Pro3727=)
n.18079A>C
5g.90985433A>GCA445441164ADGRV1c.18063A>G (p.Pro6021=)
c.7017A>G (p.Pro2339=)
n.5330A>G
c.1275A>G
c.355A>G (n.355A>G)
c.147A>G (p.Pro49=)
c.4512A>G (n.4512A>G)
c.5046A>G (p.Pro1682=)
n.18076A>G
c.18060A>G (p.Pro6020=)
c.17982A>G (p.Pro5994=)
c.15366A>G (p.Pro5122=)
c.18084A>G (p.Pro6028=)
c.18081A>G (p.Pro6027=)
c.18003A>G (p.Pro6001=)
c.17988A>G (p.Pro5996=)
c.17904A>G (p.Pro5968=)
c.11202A>G (p.Pro3734=)
c.11181A>G (p.Pro3727=)
n.18079A>G
5g.90985433A>TCA445441166ADGRV1c.18063A>T (p.Pro6021=)
c.7017A>T (p.Pro2339=)
n.5330A>T
c.1275A>T
c.355A>T (n.355A>T)
c.147A>T (p.Pro49=)
c.4512A>T (n.4512A>T)
c.5046A>T (p.Pro1682=)
n.18076A>T
c.18060A>T (p.Pro6020=)
c.17982A>T (p.Pro5994=)
c.15366A>T (p.Pro5122=)
c.18084A>T (p.Pro6028=)
c.18081A>T (p.Pro6027=)
c.18003A>T (p.Pro6001=)
c.17988A>T (p.Pro5996=)
c.17904A>T (p.Pro5968=)
c.11202A>T (p.Pro3734=)
c.11181A>T (p.Pro3727=)
n.18079A>T
5g.90985434G>ACA360429224ADGRV1c.18064G>A (p.Ala6022Thr)
c.7018G>A (p.Ala2340Thr)
n.5331G>A
c.1276G>A
c.356G>A (n.356G>A)
c.148G>A (p.Ala50Thr)
c.4513G>A (n.4513G>A)
c.5047G>A (p.Ala1683Thr)
n.18077G>A
c.18061G>A (p.Ala6021Thr)
c.17983G>A (p.Ala5995Thr)
c.15367G>A (p.Ala5123Thr)
c.18085G>A (p.Ala6029Thr)
c.18082G>A (p.Ala6028Thr)
c.18004G>A (p.Ala6002Thr)
c.17989G>A (p.Ala5997Thr)
c.17905G>A (p.Ala5969Thr)
c.11203G>A (p.Ala3735Thr)
c.11182G>A (p.Ala3728Thr)
n.18080G>A
5g.90985434G>CCA360429225ADGRV1c.18064G>C (p.Ala6022Pro)
c.7018G>C (p.Ala2340Pro)
n.5331G>C
c.1276G>C
c.356G>C (n.356G>C)
c.148G>C (p.Ala50Pro)
c.4513G>C (n.4513G>C)
c.5047G>C (p.Ala1683Pro)
n.18077G>C
c.18061G>C (p.Ala6021Pro)
c.17983G>C (p.Ala5995Pro)
c.15367G>C (p.Ala5123Pro)
c.18085G>C (p.Ala6029Pro)
c.18082G>C (p.Ala6028Pro)
c.18004G>C (p.Ala6002Pro)
c.17989G>C (p.Ala5997Pro)
c.17905G>C (p.Ala5969Pro)
c.11203G>C (p.Ala3735Pro)
c.11182G>C (p.Ala3728Pro)
n.18080G>C
5g.90985434G>TCA360429226ADGRV1c.18064G>T (p.Ala6022Ser)
c.7018G>T (p.Ala2340Ser)
n.5331G>T
c.1276G>T
c.356G>T (n.356G>T)
c.148G>T (p.Ala50Ser)
c.4513G>T (n.4513G>T)
c.5047G>T (p.Ala1683Ser)
n.18077G>T
c.18061G>T (p.Ala6021Ser)
c.17983G>T (p.Ala5995Ser)
c.15367G>T (p.Ala5123Ser)
c.18085G>T (p.Ala6029Ser)
c.18082G>T (p.Ala6028Ser)
c.18004G>T (p.Ala6002Ser)
c.17989G>T (p.Ala5997Ser)
c.17905G>T (p.Ala5969Ser)
c.11203G>T (p.Ala3735Ser)
c.11182G>T (p.Ala3728Ser)
n.18080G>T
5g.90985435C>ACA360429227ADGRV1c.18065C>A (p.Ala6022Asp)
c.7019C>A (p.Ala2340Asp)
n.5332C>A
c.1277C>A
c.357C>A (n.357C>A)
c.149C>A (p.Ala50Asp)
c.4514C>A (n.4514C>A)
c.5048C>A (p.Ala1683Asp)
n.18078C>A
c.18062C>A (p.Ala6021Asp)
c.17984C>A (p.Ala5995Asp)
c.15368C>A (p.Ala5123Asp)
c.18086C>A (p.Ala6029Asp)
c.18083C>A (p.Ala6028Asp)
c.18005C>A (p.Ala6002Asp)
c.17990C>A (p.Ala5997Asp)
c.17906C>A (p.Ala5969Asp)
c.11204C>A (p.Ala3735Asp)
c.11183C>A (p.Ala3728Asp)
n.18081C>A
5g.90985435C>GCA360429229ADGRV1c.18065C>G (p.Ala6022Gly)
c.7019C>G (p.Ala2340Gly)
n.5332C>G
c.1277C>G
c.357C>G (n.357C>G)
c.149C>G (p.Ala50Gly)
c.4514C>G (n.4514C>G)
c.5048C>G (p.Ala1683Gly)
n.18078C>G
c.18062C>G (p.Ala6021Gly)
c.17984C>G (p.Ala5995Gly)
c.15368C>G (p.Ala5123Gly)
c.18086C>G (p.Ala6029Gly)
c.18083C>G (p.Ala6028Gly)
c.18005C>G (p.Ala6002Gly)
c.17990C>G (p.Ala5997Gly)
c.17906C>G (p.Ala5969Gly)
c.11204C>G (p.Ala3735Gly)
c.11183C>G (p.Ala3728Gly)
n.18081C>G
5g.90985435C>TCA360429228ADGRV1c.18065C>T (p.Ala6022Val)
c.7019C>T (p.Ala2340Val)
n.5332C>T
c.1277C>T
c.357C>T (n.357C>T)
c.149C>T (p.Ala50Val)
c.4514C>T (n.4514C>T)
c.5048C>T (p.Ala1683Val)
n.18078C>T
c.18062C>T (p.Ala6021Val)
c.17984C>T (p.Ala5995Val)
c.15368C>T (p.Ala5123Val)
c.18086C>T (p.Ala6029Val)
c.18083C>T (p.Ala6028Val)
c.18005C>T (p.Ala6002Val)
c.17990C>T (p.Ala5997Val)
c.17906C>T (p.Ala5969Val)
c.11204C>T (p.Ala3735Val)
c.11183C>T (p.Ala3728Val)
n.18081C>T
5g.90985435_90985436delinsCTCA1562990412ADGRV1c.18065_18066delinsCT (p.Ala6022=)
c.7019_7020delinsCT (p.Ala2340=)
n.5332_5333delinsCT
c.1277_1278delinsCT
c.357_358delinsCT (n.357_358delinsCT)
c.149_150delinsCT (p.Ala50=)
c.4514_4515delinsCT (n.4514_4515delinsCT)
c.5048_5049delinsCT (p.Ala1683=)
n.18078_18079delinsCT
c.18062_18063delinsCT (p.Ala6021=)
c.17984_17985delinsCT (p.Ala5995=)
c.15368_15369delinsCT (p.Ala5123=)
c.18086_18087delinsCT (p.Ala6029=)
c.18083_18084delinsCT (p.Ala6028=)
c.18005_18006delinsCT (p.Ala6002=)
c.17990_17991delinsCT (p.Ala5997=)
c.17906_17907delinsCT (p.Ala5969=)
c.11204_11205delinsCT (p.Ala3735=)
c.11183_11184delinsCT (p.Ala3728=)
n.18081_18082delinsCT
5g.90985436T>ACA445441175ADGRV1c.18066T>A (p.Ala6022=)
c.7020T>A (p.Ala2340=)
n.5333T>A
c.1278T>A
c.358T>A (n.358T>A)
c.150T>A (p.Ala50=)
c.4515T>A (n.4515T>A)
c.5049T>A (p.Ala1683=)
n.18079T>A
c.18063T>A (p.Ala6021=)
c.17985T>A (p.Ala5995=)
c.15369T>A (p.Ala5123=)
c.18087T>A (p.Ala6029=)
c.18084T>A (p.Ala6028=)
c.18006T>A (p.Ala6002=)
c.17991T>A (p.Ala5997=)
c.17907T>A (p.Ala5969=)
c.11205T>A (p.Ala3735=)
c.11184T>A (p.Ala3728=)
n.18082T>A
5g.90985436T>CCA445441177ADGRV1c.18066T>C (p.Ala6022=)
c.7020T>C (p.Ala2340=)
n.5333T>C
c.1278T>C
c.358T>C (n.358T>C)
c.150T>C (p.Ala50=)
c.4515T>C (n.4515T>C)
c.5049T>C (p.Ala1683=)
n.18079T>C
c.18063T>C (p.Ala6021=)
c.17985T>C (p.Ala5995=)
c.15369T>C (p.Ala5123=)
c.18087T>C (p.Ala6029=)
c.18084T>C (p.Ala6028=)
c.18006T>C (p.Ala6002=)
c.17991T>C (p.Ala5997=)
c.17907T>C (p.Ala5969=)
c.11205T>C (p.Ala3735=)
c.11184T>C (p.Ala3728=)
n.18082T>C
5g.90985436T>GCA3342551ADGRV1c.18066T>G (p.Ala6022=)
c.7020T>G (p.Ala2340=)
n.5333T>G
c.1278T>G
c.358T>G (n.358T>G)
c.150T>G (p.Ala50=)
c.4515T>G (n.4515T>G)
c.5049T>G (p.Ala1683=)
n.18079T>G
c.18063T>G (p.Ala6021=)
c.17985T>G (p.Ala5995=)
c.15369T>G (p.Ala5123=)
c.18087T>G (p.Ala6029=)
c.18084T>G (p.Ala6028=)
c.18006T>G (p.Ala6002=)
c.17991T>G (p.Ala5997=)
c.17907T>G (p.Ala5969=)
c.11205T>G (p.Ala3735=)
c.11184T>G (p.Ala3728=)
n.18082T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985436T=CA1562990418ADGRV1c.18066T= (p.Ala6022=)
c.7020T= (p.Ala2340=)
n.5333T=
c.1278T=
c.358T= (n.358T=)
c.150T= (p.Ala50=)
c.4515T= (n.4515T=)
c.5049T= (p.Ala1683=)
n.18079T=
c.18063T= (p.Ala6021=)
c.17985T= (p.Ala5995=)
c.15369T= (p.Ala5123=)
c.18087T= (p.Ala6029=)
c.18084T= (p.Ala6028=)
c.18006T= (p.Ala6002=)
c.17991T= (p.Ala5997=)
c.17907T= (p.Ala5969=)
c.11205T= (p.Ala3735=)
c.11184T= (p.Ala3728=)
n.18082T=
5g.90985439delCA3342550ADGRV1c.18069del (p.Phe6023LeufsTer3)
c.7023del (p.Phe2341LeufsTer3)
n.5336del
c.1281del
c.361del (n.361del)
c.153del (p.Phe51LeufsTer3)
c.4518del (n.4518del)
c.5052del (p.Phe1684LeufsTer3)
n.18082del
c.18066del (p.Phe6022LeufsTer3)
c.17988del (p.Phe5996LeufsTer3)
c.15372del (p.Phe5124LeufsTer3)
c.18090del (p.Phe6030LeufsTer3)
c.18087del (p.Phe6029LeufsTer3)
c.18009del (p.Phe6003LeufsTer3)
c.17994del (p.Phe5998LeufsTer3)
c.17910del (p.Phe5970LeufsTer3)
c.11208del (p.Phe3736LeufsTer3)
c.11187del (p.Phe3729LeufsTer3)
n.18085del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985437T>ACA360429230ADGRV1c.18067T>A (p.Phe6023Ile)
c.7021T>A (p.Phe2341Ile)
n.5334T>A
c.1279T>A
c.359T>A (n.359T>A)
c.151T>A (p.Phe51Ile)
c.4516T>A (n.4516T>A)
c.5050T>A (p.Phe1684Ile)
n.18080T>A
c.18064T>A (p.Phe6022Ile)
c.17986T>A (p.Phe5996Ile)
c.15370T>A (p.Phe5124Ile)
c.18088T>A (p.Phe6030Ile)
c.18085T>A (p.Phe6029Ile)
c.18007T>A (p.Phe6003Ile)
c.17992T>A (p.Phe5998Ile)
c.17908T>A (p.Phe5970Ile)
c.11206T>A (p.Phe3736Ile)
c.11185T>A (p.Phe3729Ile)
n.18083T>A
5g.90985437T>CCA360429231ADGRV1c.18067T>C (p.Phe6023Leu)
c.7021T>C (p.Phe2341Leu)
n.5334T>C
c.1279T>C
c.359T>C (n.359T>C)
c.151T>C (p.Phe51Leu)
c.4516T>C (n.4516T>C)
c.5050T>C (p.Phe1684Leu)
n.18080T>C
c.18064T>C (p.Phe6022Leu)
c.17986T>C (p.Phe5996Leu)
c.15370T>C (p.Phe5124Leu)
c.18088T>C (p.Phe6030Leu)
c.18085T>C (p.Phe6029Leu)
c.18007T>C (p.Phe6003Leu)
c.17992T>C (p.Phe5998Leu)
c.17908T>C (p.Phe5970Leu)
c.11206T>C (p.Phe3736Leu)
c.11185T>C (p.Phe3729Leu)
n.18083T>C
5g.90985437T>GCA360429232ADGRV1c.18067T>G (p.Phe6023Val)
c.7021T>G (p.Phe2341Val)
n.5334T>G
c.1279T>G
c.359T>G (n.359T>G)
c.151T>G (p.Phe51Val)
c.4516T>G (n.4516T>G)
c.5050T>G (p.Phe1684Val)
n.18080T>G
c.18064T>G (p.Phe6022Val)
c.17986T>G (p.Phe5996Val)
c.15370T>G (p.Phe5124Val)
c.18088T>G (p.Phe6030Val)
c.18085T>G (p.Phe6029Val)
c.18007T>G (p.Phe6003Val)
c.17992T>G (p.Phe5998Val)
c.17908T>G (p.Phe5970Val)
c.11206T>G (p.Phe3736Val)
c.11185T>G (p.Phe3729Val)
n.18083T>G
5g.90985438T>ACA360429233ADGRV1c.18068T>A (p.Phe6023Tyr)
c.7022T>A (p.Phe2341Tyr)
n.5335T>A
c.1280T>A
c.360T>A (n.360T>A)
c.152T>A (p.Phe51Tyr)
c.4517T>A (n.4517T>A)
c.5051T>A (p.Phe1684Tyr)
n.18081T>A
c.18065T>A (p.Phe6022Tyr)
c.17987T>A (p.Phe5996Tyr)
c.15371T>A (p.Phe5124Tyr)
c.18089T>A (p.Phe6030Tyr)
c.18086T>A (p.Phe6029Tyr)
c.18008T>A (p.Phe6003Tyr)
c.17993T>A (p.Phe5998Tyr)
c.17909T>A (p.Phe5970Tyr)
c.11207T>A (p.Phe3736Tyr)
c.11186T>A (p.Phe3729Tyr)
n.18084T>A
5g.90985438T>CCA360429234ADGRV1c.18068T>C (p.Phe6023Ser)
c.7022T>C (p.Phe2341Ser)
n.5335T>C
c.1280T>C
c.360T>C (n.360T>C)
c.152T>C (p.Phe51Ser)
c.4517T>C (n.4517T>C)
c.5051T>C (p.Phe1684Ser)
n.18081T>C
c.18065T>C (p.Phe6022Ser)
c.17987T>C (p.Phe5996Ser)
c.15371T>C (p.Phe5124Ser)
c.18089T>C (p.Phe6030Ser)
c.18086T>C (p.Phe6029Ser)
c.18008T>C (p.Phe6003Ser)
c.17993T>C (p.Phe5998Ser)
c.17909T>C (p.Phe5970Ser)
c.11207T>C (p.Phe3736Ser)
c.11186T>C (p.Phe3729Ser)
n.18084T>C
 dbSNP gnomAD v2
5g.90985438T>GCA360429235ADGRV1c.18068T>G (p.Phe6023Cys)
c.7022T>G (p.Phe2341Cys)
n.5335T>G
c.1280T>G
c.360T>G (n.360T>G)
c.152T>G (p.Phe51Cys)
c.4517T>G (n.4517T>G)
c.5051T>G (p.Phe1684Cys)
n.18081T>G
c.18065T>G (p.Phe6022Cys)
c.17987T>G (p.Phe5996Cys)
c.15371T>G (p.Phe5124Cys)
c.18089T>G (p.Phe6030Cys)
c.18086T>G (p.Phe6029Cys)
c.18008T>G (p.Phe6003Cys)
c.17993T>G (p.Phe5998Cys)
c.17909T>G (p.Phe5970Cys)
c.11207T>G (p.Phe3736Cys)
c.11186T>G (p.Phe3729Cys)
n.18084T>G
5g.90985438T=CA1562990424ADGRV1c.18068T= (p.Phe6023=)
c.7022T= (p.Phe2341=)
n.5335T=
c.1280T=
c.360T= (n.360T=)
c.152T= (p.Phe51=)
c.4517T= (n.4517T=)
c.5051T= (p.Phe1684=)
n.18081T=
c.18065T= (p.Phe6022=)
c.17987T= (p.Phe5996=)
c.15371T= (p.Phe5124=)
c.18089T= (p.Phe6030=)
c.18086T= (p.Phe6029=)
c.18008T= (p.Phe6003=)
c.17993T= (p.Phe5998=)
c.17909T= (p.Phe5970=)
c.11207T= (p.Phe3736=)
c.11186T= (p.Phe3729=)
n.18084T=
5g.90985439T>ACA360429236ADGRV1c.18069T>A (p.Phe6023Leu)
c.7023T>A (p.Phe2341Leu)
n.5336T>A
c.1281T>A
c.361T>A (n.361T>A)
c.153T>A (p.Phe51Leu)
c.4518T>A (n.4518T>A)
c.5052T>A (p.Phe1684Leu)
n.18082T>A
c.18066T>A (p.Phe6022Leu)
c.17988T>A (p.Phe5996Leu)
c.15372T>A (p.Phe5124Leu)
c.18090T>A (p.Phe6030Leu)
c.18087T>A (p.Phe6029Leu)
c.18009T>A (p.Phe6003Leu)
c.17994T>A (p.Phe5998Leu)
c.17910T>A (p.Phe5970Leu)
c.11208T>A (p.Phe3736Leu)
c.11187T>A (p.Phe3729Leu)
n.18085T>A
5g.90985439T>CCA445441179ADGRV1c.18069T>C (p.Phe6023=)
c.7023T>C (p.Phe2341=)
n.5336T>C
c.1281T>C
c.361T>C (n.361T>C)
c.153T>C (p.Phe51=)
c.4518T>C (n.4518T>C)
c.5052T>C (p.Phe1684=)
n.18082T>C
c.18066T>C (p.Phe6022=)
c.17988T>C (p.Phe5996=)
c.15372T>C (p.Phe5124=)
c.18090T>C (p.Phe6030=)
c.18087T>C (p.Phe6029=)
c.18009T>C (p.Phe6003=)
c.17994T>C (p.Phe5998=)
c.17910T>C (p.Phe5970=)
c.11208T>C (p.Phe3736=)
c.11187T>C (p.Phe3729=)
n.18085T>C
5g.90985439T>GCA360429237ADGRV1c.18069T>G (p.Phe6023Leu)
c.7023T>G (p.Phe2341Leu)
n.5336T>G
c.1281T>G
c.361T>G (n.361T>G)
c.153T>G (p.Phe51Leu)
c.4518T>G (n.4518T>G)
c.5052T>G (p.Phe1684Leu)
n.18082T>G
c.18066T>G (p.Phe6022Leu)
c.17988T>G (p.Phe5996Leu)
c.15372T>G (p.Phe5124Leu)
c.18090T>G (p.Phe6030Leu)
c.18087T>G (p.Phe6029Leu)
c.18009T>G (p.Phe6003Leu)
c.17994T>G (p.Phe5998Leu)
c.17910T>G (p.Phe5970Leu)
c.11208T>G (p.Phe3736Leu)
c.11187T>G (p.Phe3729Leu)
n.18085T>G
5g.90985440G>ACA360429238ADGRV1c.18070G>A (p.Val6024Met)
c.7024G>A (p.Val2342Met)
n.5337G>A
c.1282G>A
c.362G>A (n.362G>A)
c.154G>A (p.Val52Met)
c.4519G>A (n.4519G>A)
c.5053G>A (p.Val1685Met)
n.18083G>A
c.18067G>A (p.Val6023Met)
c.17989G>A (p.Val5997Met)
c.15373G>A (p.Val5125Met)
c.18091G>A (p.Val6031Met)
c.18088G>A (p.Val6030Met)
c.18010G>A (p.Val6004Met)
c.17995G>A (p.Val5999Met)
c.17911G>A (p.Val5971Met)
c.11209G>A (p.Val3737Met)
c.11188G>A (p.Val3730Met)
n.18086G>A
 gnomAD v4
5g.90985440G>CCA360429239ADGRV1c.18070G>C (p.Val6024Leu)
c.7024G>C (p.Val2342Leu)
n.5337G>C
c.1282G>C
c.362G>C (n.362G>C)
c.154G>C (p.Val52Leu)
c.4519G>C (n.4519G>C)
c.5053G>C (p.Val1685Leu)
n.18083G>C
c.18067G>C (p.Val6023Leu)
c.17989G>C (p.Val5997Leu)
c.15373G>C (p.Val5125Leu)
c.18091G>C (p.Val6031Leu)
c.18088G>C (p.Val6030Leu)
c.18010G>C (p.Val6004Leu)
c.17995G>C (p.Val5999Leu)
c.17911G>C (p.Val5971Leu)
c.11209G>C (p.Val3737Leu)
c.11188G>C (p.Val3730Leu)
n.18086G>C
 COSMIC
5g.90985440G>TCA360429240ADGRV1c.18070G>T (p.Val6024Leu)
c.7024G>T (p.Val2342Leu)
n.5337G>T
c.1282G>T
c.362G>T (n.362G>T)
c.154G>T (p.Val52Leu)
c.4519G>T (n.4519G>T)
c.5053G>T (p.Val1685Leu)
n.18083G>T
c.18067G>T (p.Val6023Leu)
c.17989G>T (p.Val5997Leu)
c.15373G>T (p.Val5125Leu)
c.18091G>T (p.Val6031Leu)
c.18088G>T (p.Val6030Leu)
c.18010G>T (p.Val6004Leu)
c.17995G>T (p.Val5999Leu)
c.17911G>T (p.Val5971Leu)
c.11209G>T (p.Val3737Leu)
c.11188G>T (p.Val3730Leu)
n.18086G>T
5g.90985441T>ACA360429242ADGRV1c.18071T>A (p.Val6024Glu)
c.7025T>A (p.Val2342Glu)
n.5338T>A
c.1283T>A
c.363T>A (n.363T>A)
c.155T>A (p.Val52Glu)
c.4520T>A (n.4520T>A)
c.5054T>A (p.Val1685Glu)
n.18084T>A
c.18068T>A (p.Val6023Glu)
c.17990T>A (p.Val5997Glu)
c.15374T>A (p.Val5125Glu)
c.18092T>A (p.Val6031Glu)
c.18089T>A (p.Val6030Glu)
c.18011T>A (p.Val6004Glu)
c.17996T>A (p.Val5999Glu)
c.17912T>A (p.Val5971Glu)
c.11210T>A (p.Val3737Glu)
c.11189T>A (p.Val3730Glu)
n.18087T>A
5g.90985441T>CCA360429243ADGRV1c.18071T>C (p.Val6024Ala)
c.7025T>C (p.Val2342Ala)
n.5338T>C
c.1283T>C
c.363T>C (n.363T>C)
c.155T>C (p.Val52Ala)
c.4520T>C (n.4520T>C)
c.5054T>C (p.Val1685Ala)
n.18084T>C
c.18068T>C (p.Val6023Ala)
c.17990T>C (p.Val5997Ala)
c.15374T>C (p.Val5125Ala)
c.18092T>C (p.Val6031Ala)
c.18089T>C (p.Val6030Ala)
c.18011T>C (p.Val6004Ala)
c.17996T>C (p.Val5999Ala)
c.17912T>C (p.Val5971Ala)
c.11210T>C (p.Val3737Ala)
c.11189T>C (p.Val3730Ala)
n.18087T>C
5g.90985441T>GCA360429241ADGRV1c.18071T>G (p.Val6024Gly)
c.7025T>G (p.Val2342Gly)
n.5338T>G
c.1283T>G
c.363T>G (n.363T>G)
c.155T>G (p.Val52Gly)
c.4520T>G (n.4520T>G)
c.5054T>G (p.Val1685Gly)
n.18084T>G
c.18068T>G (p.Val6023Gly)
c.17990T>G (p.Val5997Gly)
c.15374T>G (p.Val5125Gly)
c.18092T>G (p.Val6031Gly)
c.18089T>G (p.Val6030Gly)
c.18011T>G (p.Val6004Gly)
c.17996T>G (p.Val5999Gly)
c.17912T>G (p.Val5971Gly)
c.11210T>G (p.Val3737Gly)
c.11189T>G (p.Val3730Gly)
n.18087T>G
5g.90985442G>ACA445441187ADGRV1c.18072G>A (p.Val6024=)
c.7026G>A (p.Val2342=)
n.5339G>A
c.1284G>A
c.364G>A (n.364G>A)
c.156G>A (p.Val52=)
c.4521G>A (n.4521G>A)
c.5055G>A (p.Val1685=)
n.18085G>A
c.18069G>A (p.Val6023=)
c.17991G>A (p.Val5997=)
c.15375G>A (p.Val5125=)
c.18093G>A (p.Val6031=)
c.18090G>A (p.Val6030=)
c.18012G>A (p.Val6004=)
c.17997G>A (p.Val5999=)
c.17913G>A (p.Val5971=)
c.11211G>A (p.Val3737=)
c.11190G>A (p.Val3730=)
n.18088G>A
 ClinVar gnomAD v4
5g.90985442G>CCA445441188ADGRV1c.18072G>C (p.Val6024=)
c.7026G>C (p.Val2342=)
n.5339G>C
c.1284G>C
c.364G>C (n.364G>C)
c.156G>C (p.Val52=)
c.4521G>C (n.4521G>C)
c.5055G>C (p.Val1685=)
n.18085G>C
c.18069G>C (p.Val6023=)
c.17991G>C (p.Val5997=)
c.15375G>C (p.Val5125=)
c.18093G>C (p.Val6031=)
c.18090G>C (p.Val6030=)
c.18012G>C (p.Val6004=)
c.17997G>C (p.Val5999=)
c.17913G>C (p.Val5971=)
c.11211G>C (p.Val3737=)
c.11190G>C (p.Val3730=)
n.18088G>C
5g.90985442G>TCA445441189ADGRV1c.18072G>T (p.Val6024=)
c.7026G>T (p.Val2342=)
n.5339G>T
c.1284G>T
c.364G>T (n.364G>T)
c.156G>T (p.Val52=)
c.4521G>T (n.4521G>T)
c.5055G>T (p.Val1685=)
n.18085G>T
c.18069G>T (p.Val6023=)
c.17991G>T (p.Val5997=)
c.15375G>T (p.Val5125=)
c.18093G>T (p.Val6031=)
c.18090G>T (p.Val6030=)
c.18012G>T (p.Val6004=)
c.17997G>T (p.Val5999=)
c.17913G>T (p.Val5971=)
c.11211G>T (p.Val3737=)
c.11190G>T (p.Val3730=)
n.18088G>T
5g.90985443G>ACA360429244ADGRV1c.18073G>A (p.Val6025Met)
c.7027G>A (p.Val2343Met)
n.5340G>A
c.1285G>A
c.365G>A (n.365G>A)
c.157G>A (p.Val53Met)
c.4522G>A (n.4522G>A)
c.5056G>A (p.Val1686Met)
n.18086G>A
c.18070G>A (p.Val6024Met)
c.17992G>A (p.Val5998Met)
c.15376G>A (p.Val5126Met)
c.18094G>A (p.Val6032Met)
c.18091G>A (p.Val6031Met)
c.18013G>A (p.Val6005Met)
c.17998G>A (p.Val6000Met)
c.17914G>A (p.Val5972Met)
c.11212G>A (p.Val3738Met)
c.11191G>A (p.Val3731Met)
n.18089G>A
5g.90985443G>CCA360429246ADGRV1c.18073G>C (p.Val6025Leu)
c.7027G>C (p.Val2343Leu)
n.5340G>C
c.1285G>C
c.365G>C (n.365G>C)
c.157G>C (p.Val53Leu)
c.4522G>C (n.4522G>C)
c.5056G>C (p.Val1686Leu)
n.18086G>C
c.18070G>C (p.Val6024Leu)
c.17992G>C (p.Val5998Leu)
c.15376G>C (p.Val5126Leu)
c.18094G>C (p.Val6032Leu)
c.18091G>C (p.Val6031Leu)
c.18013G>C (p.Val6005Leu)
c.17998G>C (p.Val6000Leu)
c.17914G>C (p.Val5972Leu)
c.11212G>C (p.Val3738Leu)
c.11191G>C (p.Val3731Leu)
n.18089G>C
5g.90985443G>TCA360429245ADGRV1c.18073G>T (p.Val6025Leu)
c.7027G>T (p.Val2343Leu)
n.5340G>T
c.1285G>T
c.365G>T (n.365G>T)
c.157G>T (p.Val53Leu)
c.4522G>T (n.4522G>T)
c.5056G>T (p.Val1686Leu)
n.18086G>T
c.18070G>T (p.Val6024Leu)
c.17992G>T (p.Val5998Leu)
c.15376G>T (p.Val5126Leu)
c.18094G>T (p.Val6032Leu)
c.18091G>T (p.Val6031Leu)
c.18013G>T (p.Val6005Leu)
c.17998G>T (p.Val6000Leu)
c.17914G>T (p.Val5972Leu)
c.11212G>T (p.Val3738Leu)
c.11191G>T (p.Val3731Leu)
n.18089G>T
5g.90985444T>ACA360429247ADGRV1c.18074T>A (p.Val6025Glu)
c.7028T>A (p.Val2343Glu)
n.5341T>A
c.1286T>A
c.366T>A (n.366T>A)
c.158T>A (p.Val53Glu)
c.4523T>A (n.4523T>A)
c.5057T>A (p.Val1686Glu)
n.18087T>A
c.18071T>A (p.Val6024Glu)
c.17993T>A (p.Val5998Glu)
c.15377T>A (p.Val5126Glu)
c.18095T>A (p.Val6032Glu)
c.18092T>A (p.Val6031Glu)
c.18014T>A (p.Val6005Glu)
c.17999T>A (p.Val6000Glu)
c.17915T>A (p.Val5972Glu)
c.11213T>A (p.Val3738Glu)
c.11192T>A (p.Val3731Glu)
n.18090T>A
5g.90985444T>CCA360429249ADGRV1c.18074T>C (p.Val6025Ala)
c.7028T>C (p.Val2343Ala)
n.5341T>C
c.1286T>C
c.366T>C (n.366T>C)
c.158T>C (p.Val53Ala)
c.4523T>C (n.4523T>C)
c.5057T>C (p.Val1686Ala)
n.18087T>C
c.18071T>C (p.Val6024Ala)
c.17993T>C (p.Val5998Ala)
c.15377T>C (p.Val5126Ala)
c.18095T>C (p.Val6032Ala)
c.18092T>C (p.Val6031Ala)
c.18014T>C (p.Val6005Ala)
c.17999T>C (p.Val6000Ala)
c.17915T>C (p.Val5972Ala)
c.11213T>C (p.Val3738Ala)
c.11192T>C (p.Val3731Ala)
n.18090T>C
5g.90985444T>GCA360429248ADGRV1c.18074T>G (p.Val6025Gly)
c.7028T>G (p.Val2343Gly)
n.5341T>G
c.1286T>G
c.366T>G (n.366T>G)
c.158T>G (p.Val53Gly)
c.4523T>G (n.4523T>G)
c.5057T>G (p.Val1686Gly)
n.18087T>G
c.18071T>G (p.Val6024Gly)
c.17993T>G (p.Val5998Gly)
c.15377T>G (p.Val5126Gly)
c.18095T>G (p.Val6032Gly)
c.18092T>G (p.Val6031Gly)
c.18014T>G (p.Val6005Gly)
c.17999T>G (p.Val6000Gly)
c.17915T>G (p.Val5972Gly)
c.11213T>G (p.Val3738Gly)
c.11192T>G (p.Val3731Gly)
n.18090T>G
5g.90985445G>ACA445441193ADGRV1c.18075G>A (p.Val6025=)
c.7029G>A (p.Val2343=)
n.5342G>A
c.1287G>A
c.367G>A (n.367G>A)
c.159G>A (p.Val53=)
c.4524G>A (n.4524G>A)
c.5058G>A (p.Val1686=)
n.18088G>A
c.18072G>A (p.Val6024=)
c.17994G>A (p.Val5998=)
c.15378G>A (p.Val5126=)
c.18096G>A (p.Val6032=)
c.18093G>A (p.Val6031=)
c.18015G>A (p.Val6005=)
c.18000G>A (p.Val6000=)
c.17916G>A (p.Val5972=)
c.11214G>A (p.Val3738=)
c.11193G>A (p.Val3731=)
n.18091G>A
 COSMIC
5g.90985445G>CCA445441194ADGRV1c.18075G>C (p.Val6025=)
c.7029G>C (p.Val2343=)
n.5342G>C
c.1287G>C
c.367G>C (n.367G>C)
c.159G>C (p.Val53=)
c.4524G>C (n.4524G>C)
c.5058G>C (p.Val1686=)
n.18088G>C
c.18072G>C (p.Val6024=)
c.17994G>C (p.Val5998=)
c.15378G>C (p.Val5126=)
c.18096G>C (p.Val6032=)
c.18093G>C (p.Val6031=)
c.18015G>C (p.Val6005=)
c.18000G>C (p.Val6000=)
c.17916G>C (p.Val5972=)
c.11214G>C (p.Val3738=)
c.11193G>C (p.Val3731=)
n.18091G>C
 dbSNP gnomAD v4
5g.90985445G=CA1562990426ADGRV1c.18075G= (p.Val6025=)
c.7029G= (p.Val2343=)
n.5342G=
c.1287G=
c.367G= (n.367G=)
c.159G= (p.Val53=)
c.4524G= (n.4524G=)
c.5058G= (p.Val1686=)
n.18088G=
c.18072G= (p.Val6024=)
c.17994G= (p.Val5998=)
c.15378G= (p.Val5126=)
c.18096G= (p.Val6032=)
c.18093G= (p.Val6031=)
c.18015G= (p.Val6005=)
c.18000G= (p.Val6000=)
c.17916G= (p.Val5972=)
c.11214G= (p.Val3738=)
c.11193G= (p.Val3731=)
n.18091G=
5g.90985445G>TCA445441196ADGRV1c.18075G>T (p.Val6025=)
c.7029G>T (p.Val2343=)
n.5342G>T
c.1287G>T
c.367G>T (n.367G>T)
c.159G>T (p.Val53=)
c.4524G>T (n.4524G>T)
c.5058G>T (p.Val1686=)
n.18088G>T
c.18072G>T (p.Val6024=)
c.17994G>T (p.Val5998=)
c.15378G>T (p.Val5126=)
c.18096G>T (p.Val6032=)
c.18093G>T (p.Val6031=)
c.18015G>T (p.Val6005=)
c.18000G>T (p.Val6000=)
c.17916G>T (p.Val5972=)
c.11214G>T (p.Val3738=)
c.11193G>T (p.Val3731=)
n.18091G>T
5g.90985446A=CA1562990430ADGRV1c.18076A= (p.Ile6026=)
c.7030A= (p.Ile2344=)
n.5343A=
c.1288A=
c.368A= (n.368A=)
c.160A= (p.Ile54=)
c.4525A= (n.4525A=)
c.5059A= (p.Ile1687=)
n.18089A=
c.18073A= (p.Ile6025=)
c.17995A= (p.Ile5999=)
c.15379A= (p.Ile5127=)
c.18097A= (p.Ile6033=)
c.18094A= (p.Ile6032=)
c.18016A= (p.Ile6006=)
c.18001A= (p.Ile6001=)
c.17917A= (p.Ile5973=)
c.11215A= (p.Ile3739=)
c.11194A= (p.Ile3732=)
n.18092A=
5g.90985446A>CCA360429250ADGRV1c.18076A>C (p.Ile6026Leu)
c.7030A>C (p.Ile2344Leu)
n.5343A>C
c.1288A>C
c.368A>C (n.368A>C)
c.160A>C (p.Ile54Leu)
c.4525A>C (n.4525A>C)
c.5059A>C (p.Ile1687Leu)
n.18089A>C
c.18073A>C (p.Ile6025Leu)
c.17995A>C (p.Ile5999Leu)
c.15379A>C (p.Ile5127Leu)
c.18097A>C (p.Ile6033Leu)
c.18094A>C (p.Ile6032Leu)
c.18016A>C (p.Ile6006Leu)
c.18001A>C (p.Ile6001Leu)
c.17917A>C (p.Ile5973Leu)
c.11215A>C (p.Ile3739Leu)
c.11194A>C (p.Ile3732Leu)
n.18092A>C
5g.90985446A>GCA360429251ADGRV1c.18076A>G (p.Ile6026Val)
c.7030A>G (p.Ile2344Val)
n.5343A>G
c.1288A>G
c.368A>G (n.368A>G)
c.160A>G (p.Ile54Val)
c.4525A>G (n.4525A>G)
c.5059A>G (p.Ile1687Val)
n.18089A>G
c.18073A>G (p.Ile6025Val)
c.17995A>G (p.Ile5999Val)
c.15379A>G (p.Ile5127Val)
c.18097A>G (p.Ile6033Val)
c.18094A>G (p.Ile6032Val)
c.18016A>G (p.Ile6006Val)
c.18001A>G (p.Ile6001Val)
c.17917A>G (p.Ile5973Val)
c.11215A>G (p.Ile3739Val)
c.11194A>G (p.Ile3732Val)
n.18092A>G
 ClinVar dbSNP
5g.90985446A>TCA122930896ADGRV1c.18076A>T (p.Ile6026Phe)
c.7030A>T (p.Ile2344Phe)
n.5343A>T
c.1288A>T
c.368A>T (n.368A>T)
c.160A>T (p.Ile54Phe)
c.4525A>T (n.4525A>T)
c.5059A>T (p.Ile1687Phe)
n.18089A>T
c.18073A>T (p.Ile6025Phe)
c.17995A>T (p.Ile5999Phe)
c.15379A>T (p.Ile5127Phe)
c.18097A>T (p.Ile6033Phe)
c.18094A>T (p.Ile6032Phe)
c.18016A>T (p.Ile6006Phe)
c.18001A>T (p.Ile6001Phe)
c.17917A>T (p.Ile5973Phe)
c.11215A>T (p.Ile3739Phe)
c.11194A>T (p.Ile3732Phe)
n.18092A>T
 dbSNP gnomAD v4
5g.90985447T>ACA360429252ADGRV1c.18077T>A (p.Ile6026Asn)
c.7031T>A (p.Ile2344Asn)
n.5344T>A
c.1289T>A
c.369T>A (n.369T>A)
c.161T>A (p.Ile54Asn)
c.4526T>A (n.4526T>A)
c.5060T>A (p.Ile1687Asn)
n.18090T>A
c.18074T>A (p.Ile6025Asn)
c.17996T>A (p.Ile5999Asn)
c.15380T>A (p.Ile5127Asn)
c.18098T>A (p.Ile6033Asn)
c.18095T>A (p.Ile6032Asn)
c.18017T>A (p.Ile6006Asn)
c.18002T>A (p.Ile6001Asn)
c.17918T>A (p.Ile5973Asn)
c.11216T>A (p.Ile3739Asn)
c.11195T>A (p.Ile3732Asn)
n.18093T>A
 gnomAD v4
5g.90985447T>CCA360429253ADGRV1c.18077T>C (p.Ile6026Thr)
c.7031T>C (p.Ile2344Thr)
n.5344T>C
c.1289T>C
c.369T>C (n.369T>C)
c.161T>C (p.Ile54Thr)
c.4526T>C (n.4526T>C)
c.5060T>C (p.Ile1687Thr)
n.18090T>C
c.18074T>C (p.Ile6025Thr)
c.17996T>C (p.Ile5999Thr)
c.15380T>C (p.Ile5127Thr)
c.18098T>C (p.Ile6033Thr)
c.18095T>C (p.Ile6032Thr)
c.18017T>C (p.Ile6006Thr)
c.18002T>C (p.Ile6001Thr)
c.17918T>C (p.Ile5973Thr)
c.11216T>C (p.Ile3739Thr)
c.11195T>C (p.Ile3732Thr)
n.18093T>C
5g.90985447T>GCA360429254ADGRV1c.18077T>G (p.Ile6026Ser)
c.7031T>G (p.Ile2344Ser)
n.5344T>G
c.1289T>G
c.369T>G (n.369T>G)
c.161T>G (p.Ile54Ser)
c.4526T>G (n.4526T>G)
c.5060T>G (p.Ile1687Ser)
n.18090T>G
c.18074T>G (p.Ile6025Ser)
c.17996T>G (p.Ile5999Ser)
c.15380T>G (p.Ile5127Ser)
c.18098T>G (p.Ile6033Ser)
c.18095T>G (p.Ile6032Ser)
c.18017T>G (p.Ile6006Ser)
c.18002T>G (p.Ile6001Ser)
c.17918T>G (p.Ile5973Ser)
c.11216T>G (p.Ile3739Ser)
c.11195T>G (p.Ile3732Ser)
n.18093T>G
5g.90985448T>ACA445441206ADGRV1c.18078T>A (p.Ile6026=)
c.7032T>A (p.Ile2344=)
n.5345T>A
c.1290T>A
c.370T>A (n.370T>A)
c.162T>A (p.Ile54=)
c.4527T>A (n.4527T>A)
c.5061T>A (p.Ile1687=)
n.18091T>A
c.18075T>A (p.Ile6025=)
c.17997T>A (p.Ile5999=)
c.15381T>A (p.Ile5127=)
c.18099T>A (p.Ile6033=)
c.18096T>A (p.Ile6032=)
c.18018T>A (p.Ile6006=)
c.18003T>A (p.Ile6001=)
c.17919T>A (p.Ile5973=)
c.11217T>A (p.Ile3739=)
c.11196T>A (p.Ile3732=)
n.18094T>A
5g.90985448T>CCA3342552ADGRV1c.18078T>C (p.Ile6026=)
c.7032T>C (p.Ile2344=)
n.5345T>C
c.1290T>C
c.370T>C (n.370T>C)
c.162T>C (p.Ile54=)
c.4527T>C (n.4527T>C)
c.5061T>C (p.Ile1687=)
n.18091T>C
c.18075T>C (p.Ile6025=)
c.17997T>C (p.Ile5999=)
c.15381T>C (p.Ile5127=)
c.18099T>C (p.Ile6033=)
c.18096T>C (p.Ile6032=)
c.18018T>C (p.Ile6006=)
c.18003T>C (p.Ile6001=)
c.17919T>C (p.Ile5973=)
c.11217T>C (p.Ile3739=)
c.11196T>C (p.Ile3732=)
n.18094T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985448T>GCA360429255ADGRV1c.18078T>G (p.Ile6026Met)
c.7032T>G (p.Ile2344Met)
n.5345T>G
c.1290T>G
c.370T>G (n.370T>G)
c.162T>G (p.Ile54Met)
c.4527T>G (n.4527T>G)
c.5061T>G (p.Ile1687Met)
n.18091T>G
c.18075T>G (p.Ile6025Met)
c.17997T>G (p.Ile5999Met)
c.15381T>G (p.Ile5127Met)
c.18099T>G (p.Ile6033Met)
c.18096T>G (p.Ile6032Met)
c.18018T>G (p.Ile6006Met)
c.18003T>G (p.Ile6001Met)
c.17919T>G (p.Ile5973Met)
c.11217T>G (p.Ile3739Met)
c.11196T>G (p.Ile3732Met)
n.18094T>G
5g.90985448T=CA1562990434ADGRV1c.18078T= (p.Ile6026=)
c.7032T= (p.Ile2344=)
n.5345T=
c.1290T=
c.370T= (n.370T=)
c.162T= (p.Ile54=)
c.4527T= (n.4527T=)
c.5061T= (p.Ile1687=)
n.18091T=
c.18075T= (p.Ile6025=)
c.17997T= (p.Ile5999=)
c.15381T= (p.Ile5127=)
c.18099T= (p.Ile6033=)
c.18096T= (p.Ile6032=)
c.18018T= (p.Ile6006=)
c.18003T= (p.Ile6001=)
c.17919T= (p.Ile5973=)
c.11217T= (p.Ile3739=)
c.11196T= (p.Ile3732=)
n.18094T=
5g.90985449C>ACA360429256ADGRV1c.18079C>A (p.Leu6027Ile)
c.7033C>A (p.Leu2345Ile)
n.5346C>A
c.1291C>A
c.371C>A (n.371C>A)
c.163C>A (p.Leu55Ile)
c.4528C>A (n.4528C>A)
c.5062C>A (p.Leu1688Ile)
n.18092C>A
c.18076C>A (p.Leu6026Ile)
c.17998C>A (p.Leu6000Ile)
c.15382C>A (p.Leu5128Ile)
c.18100C>A (p.Leu6034Ile)
c.18097C>A (p.Leu6033Ile)
c.18019C>A (p.Leu6007Ile)
c.18004C>A (p.Leu6002Ile)
c.17920C>A (p.Leu5974Ile)
c.11218C>A (p.Leu3740Ile)
c.11197C>A (p.Leu3733Ile)
n.18095C>A
 gnomAD v4
5g.90985449C=CA1562990443ADGRV1c.18079C= (p.Leu6027=)
c.7033C= (p.Leu2345=)
n.5346C=
c.1291C=
c.371C= (n.371C=)
c.163C= (p.Leu55=)
c.4528C= (n.4528C=)
c.5062C= (p.Leu1688=)
n.18092C=
c.18076C= (p.Leu6026=)
c.17998C= (p.Leu6000=)
c.15382C= (p.Leu5128=)
c.18100C= (p.Leu6034=)
c.18097C= (p.Leu6033=)
c.18019C= (p.Leu6007=)
c.18004C= (p.Leu6002=)
c.17920C= (p.Leu5974=)
c.11218C= (p.Leu3740=)
c.11197C= (p.Leu3733=)
n.18095C=
5g.90985449C>GCA360429257ADGRV1c.18079C>G (p.Leu6027Val)
c.7033C>G (p.Leu2345Val)
n.5346C>G
c.1291C>G
c.371C>G (n.371C>G)
c.163C>G (p.Leu55Val)
c.4528C>G (n.4528C>G)
c.5062C>G (p.Leu1688Val)
n.18092C>G
c.18076C>G (p.Leu6026Val)
c.17998C>G (p.Leu6000Val)
c.15382C>G (p.Leu5128Val)
c.18100C>G (p.Leu6034Val)
c.18097C>G (p.Leu6033Val)
c.18019C>G (p.Leu6007Val)
c.18004C>G (p.Leu6002Val)
c.17920C>G (p.Leu5974Val)
c.11218C>G (p.Leu3740Val)
c.11197C>G (p.Leu3733Val)
n.18095C>G
5g.90985449C>TCA122930914ADGRV1c.18079C>T (p.Leu6027Phe)
c.7033C>T (p.Leu2345Phe)
n.5346C>T
c.1291C>T
c.371C>T (n.371C>T)
c.163C>T (p.Leu55Phe)
c.4528C>T (n.4528C>T)
c.5062C>T (p.Leu1688Phe)
n.18092C>T
c.18076C>T (p.Leu6026Phe)
c.17998C>T (p.Leu6000Phe)
c.15382C>T (p.Leu5128Phe)
c.18100C>T (p.Leu6034Phe)
c.18097C>T (p.Leu6033Phe)
c.18019C>T (p.Leu6007Phe)
c.18004C>T (p.Leu6002Phe)
c.17920C>T (p.Leu5974Phe)
c.11218C>T (p.Leu3740Phe)
c.11197C>T (p.Leu3733Phe)
n.18095C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90985452_90985454delCA2767429321ADGRV1c.18082_18084del (p.Leu6028del)
c.7036_7038del (p.Leu2346del)
n.5349_5351del
c.1294_1296del
c.374_376del (n.374_376del)
c.166_168del (p.Leu56del)
c.4531_4533del (n.4531_4533del)
c.5065_5067del (p.Leu1689del)
n.18095_18097del
c.18079_18081del (p.Leu6027del)
c.18001_18003del (p.Leu6001del)
c.15385_15387del (p.Leu5129del)
c.18103_18105del (p.Leu6035del)
c.18100_18102del (p.Leu6034del)
c.18022_18024del (p.Leu6008del)
c.18007_18009del (p.Leu6003del)
c.17923_17925del (p.Leu5975del)
c.11221_11223del (p.Leu3741del)
c.11200_11202del (p.Leu3734del)
n.18098_18100del
5g.90985450T>ACA360429260ADGRV1c.18080T>A (p.Leu6027His)
c.7034T>A (p.Leu2345His)
n.5347T>A
c.1292T>A
c.372T>A (n.372T>A)
c.164T>A (p.Leu55His)
c.4529T>A (n.4529T>A)
c.5063T>A (p.Leu1688His)
n.18093T>A
c.18077T>A (p.Leu6026His)
c.17999T>A (p.Leu6000His)
c.15383T>A (p.Leu5128His)
c.18101T>A (p.Leu6034His)
c.18098T>A (p.Leu6033His)
c.18020T>A (p.Leu6007His)
c.18005T>A (p.Leu6002His)
c.17921T>A (p.Leu5974His)
c.11219T>A (p.Leu3740His)
c.11198T>A (p.Leu3733His)
n.18096T>A
 dbSNP
5g.90985450T>CCA360429258ADGRV1c.18080T>C (p.Leu6027Pro)
c.7034T>C (p.Leu2345Pro)
n.5347T>C
c.1292T>C
c.372T>C (n.372T>C)
c.164T>C (p.Leu55Pro)
c.4529T>C (n.4529T>C)
c.5063T>C (p.Leu1688Pro)
n.18093T>C
c.18077T>C (p.Leu6026Pro)
c.17999T>C (p.Leu6000Pro)
c.15383T>C (p.Leu5128Pro)
c.18101T>C (p.Leu6034Pro)
c.18098T>C (p.Leu6033Pro)
c.18020T>C (p.Leu6007Pro)
c.18005T>C (p.Leu6002Pro)
c.17921T>C (p.Leu5974Pro)
c.11219T>C (p.Leu3740Pro)
c.11198T>C (p.Leu3733Pro)
n.18096T>C
5g.90985450T>GCA360429259ADGRV1c.18080T>G (p.Leu6027Arg)
c.7034T>G (p.Leu2345Arg)
n.5347T>G
c.1292T>G
c.372T>G (n.372T>G)
c.164T>G (p.Leu55Arg)
c.4529T>G (n.4529T>G)
c.5063T>G (p.Leu1688Arg)
n.18093T>G
c.18077T>G (p.Leu6026Arg)
c.17999T>G (p.Leu6000Arg)
c.15383T>G (p.Leu5128Arg)
c.18101T>G (p.Leu6034Arg)
c.18098T>G (p.Leu6033Arg)
c.18020T>G (p.Leu6007Arg)
c.18005T>G (p.Leu6002Arg)
c.17921T>G (p.Leu5974Arg)
c.11219T>G (p.Leu3740Arg)
c.11198T>G (p.Leu3733Arg)
n.18096T>G
5g.90985450T=CA1562990451ADGRV1c.18080T= (p.Leu6027=)
c.7034T= (p.Leu2345=)
n.5347T=
c.1292T=
c.372T= (n.372T=)
c.164T= (p.Leu55=)
c.4529T= (n.4529T=)
c.5063T= (p.Leu1688=)
n.18093T=
c.18077T= (p.Leu6026=)
c.17999T= (p.Leu6000=)
c.15383T= (p.Leu5128=)
c.18101T= (p.Leu6034=)
c.18098T= (p.Leu6033=)
c.18020T= (p.Leu6007=)
c.18005T= (p.Leu6002=)
c.17921T= (p.Leu5974=)
c.11219T= (p.Leu3740=)
c.11198T= (p.Leu3733=)
n.18096T=
5g.90985451C>ACA445441214ADGRV1c.18081C>A (p.Leu6027=)
c.7035C>A (p.Leu2345=)
n.5348C>A
c.1293C>A
c.373C>A (n.373C>A)
c.165C>A (p.Leu55=)
c.4530C>A (n.4530C>A)
c.5064C>A (p.Leu1688=)
n.18094C>A
c.18078C>A (p.Leu6026=)
c.18000C>A (p.Leu6000=)
c.15384C>A (p.Leu5128=)
c.18102C>A (p.Leu6034=)
c.18099C>A (p.Leu6033=)
c.18021C>A (p.Leu6007=)
c.18006C>A (p.Leu6002=)
c.17922C>A (p.Leu5974=)
c.11220C>A (p.Leu3740=)
c.11199C>A (p.Leu3733=)
n.18097C>A
5g.90985451C>GCA445441216ADGRV1c.18081C>G (p.Leu6027=)
c.7035C>G (p.Leu2345=)
n.5348C>G
c.1293C>G
c.373C>G (n.373C>G)
c.165C>G (p.Leu55=)
c.4530C>G (n.4530C>G)
c.5064C>G (p.Leu1688=)
n.18094C>G
c.18078C>G (p.Leu6026=)
c.18000C>G (p.Leu6000=)
c.15384C>G (p.Leu5128=)
c.18102C>G (p.Leu6034=)
c.18099C>G (p.Leu6033=)
c.18021C>G (p.Leu6007=)
c.18006C>G (p.Leu6002=)
c.17922C>G (p.Leu5974=)
c.11220C>G (p.Leu3740=)
c.11199C>G (p.Leu3733=)
n.18097C>G
5g.90985451C>TCA445441218ADGRV1c.18081C>T (p.Leu6027=)
c.7035C>T (p.Leu2345=)
n.5348C>T
c.1293C>T
c.373C>T (n.373C>T)
c.165C>T (p.Leu55=)
c.4530C>T (n.4530C>T)
c.5064C>T (p.Leu1688=)
n.18094C>T
c.18078C>T (p.Leu6026=)
c.18000C>T (p.Leu6000=)
c.15384C>T (p.Leu5128=)
c.18102C>T (p.Leu6034=)
c.18099C>T (p.Leu6033=)
c.18021C>T (p.Leu6007=)
c.18006C>T (p.Leu6002=)
c.17922C>T (p.Leu5974=)
c.11220C>T (p.Leu3740=)
c.11199C>T (p.Leu3733=)
n.18097C>T
5g.90985452delCA2578360513ADGRV1c.18082del (p.Leu6028SerfsTer2)
c.7036del (p.Leu2346SerfsTer2)
n.5349del
c.1294del
c.374del (n.374del)
c.166del (p.Leu56SerfsTer2)
c.4531del (n.4531del)
c.5065del (p.Leu1689SerfsTer2)
n.18095del
c.18079del (p.Leu6027SerfsTer2)
c.18001del (p.Leu6001SerfsTer2)
c.15385del (p.Leu5129SerfsTer2)
c.18103del (p.Leu6035SerfsTer2)
c.18100del (p.Leu6034SerfsTer2)
c.18022del (p.Leu6008SerfsTer2)
c.18007del (p.Leu6003SerfsTer2)
c.17923del (p.Leu5975SerfsTer2)
c.11221del (p.Leu3741SerfsTer2)
c.11200del (p.Leu3734SerfsTer2)
n.18098del
5g.90985452C>ACA360429261ADGRV1c.18082C>A (p.Leu6028Ile)
c.7036C>A (p.Leu2346Ile)
n.5349C>A
c.1294C>A
c.374C>A (n.374C>A)
c.166C>A (p.Leu56Ile)
c.4531C>A (n.4531C>A)
c.5065C>A (p.Leu1689Ile)
n.18095C>A
c.18079C>A (p.Leu6027Ile)
c.18001C>A (p.Leu6001Ile)
c.15385C>A (p.Leu5129Ile)
c.18103C>A (p.Leu6035Ile)
c.18100C>A (p.Leu6034Ile)
c.18022C>A (p.Leu6008Ile)
c.18007C>A (p.Leu6003Ile)
c.17923C>A (p.Leu5975Ile)
c.11221C>A (p.Leu3741Ile)
c.11200C>A (p.Leu3734Ile)
n.18098C>A
5g.90985452C=CA1562990454ADGRV1c.18082C= (p.Leu6028=)
c.7036C= (p.Leu2346=)
n.5349C=
c.1294C=
c.374C= (n.374C=)
c.166C= (p.Leu56=)
c.4531C= (n.4531C=)
c.5065C= (p.Leu1689=)
n.18095C=
c.18079C= (p.Leu6027=)
c.18001C= (p.Leu6001=)
c.15385C= (p.Leu5129=)
c.18103C= (p.Leu6035=)
c.18100C= (p.Leu6034=)
c.18022C= (p.Leu6008=)
c.18007C= (p.Leu6003=)
c.17923C= (p.Leu5975=)
c.11221C= (p.Leu3741=)
c.11200C= (p.Leu3734=)
n.18098C=
5g.90985452C>GCA360429262ADGRV1c.18082C>G (p.Leu6028Val)
c.7036C>G (p.Leu2346Val)
n.5349C>G
c.1294C>G
c.374C>G (n.374C>G)
c.166C>G (p.Leu56Val)
c.4531C>G (n.4531C>G)
c.5065C>G (p.Leu1689Val)
n.18095C>G
c.18079C>G (p.Leu6027Val)
c.18001C>G (p.Leu6001Val)
c.15385C>G (p.Leu5129Val)
c.18103C>G (p.Leu6035Val)
c.18100C>G (p.Leu6034Val)
c.18022C>G (p.Leu6008Val)
c.18007C>G (p.Leu6003Val)
c.17923C>G (p.Leu5975Val)
c.11221C>G (p.Leu3741Val)
c.11200C>G (p.Leu3734Val)
n.18098C>G
5g.90985452C>TCA360429263ADGRV1c.18082C>T (p.Leu6028Phe)
c.7036C>T (p.Leu2346Phe)
n.5349C>T
c.1294C>T
c.374C>T (n.374C>T)
c.166C>T (p.Leu56Phe)
c.4531C>T (n.4531C>T)
c.5065C>T (p.Leu1689Phe)
n.18095C>T
c.18079C>T (p.Leu6027Phe)
c.18001C>T (p.Leu6001Phe)
c.15385C>T (p.Leu5129Phe)
c.18103C>T (p.Leu6035Phe)
c.18100C>T (p.Leu6034Phe)
c.18022C>T (p.Leu6008Phe)
c.18007C>T (p.Leu6003Phe)
c.17923C>T (p.Leu5975Phe)
c.11221C>T (p.Leu3741Phe)
c.11200C>T (p.Leu3734Phe)
n.18098C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90985453T>ACA360429264ADGRV1c.18083T>A (p.Leu6028His)
c.7037T>A (p.Leu2346His)
n.5350T>A
c.1295T>A
c.375T>A (n.375T>A)
c.167T>A (p.Leu56His)
c.4532T>A (n.4532T>A)
c.5066T>A (p.Leu1689His)
n.18096T>A
c.18080T>A (p.Leu6027His)
c.18002T>A (p.Leu6001His)
c.15386T>A (p.Leu5129His)
c.18104T>A (p.Leu6035His)
c.18101T>A (p.Leu6034His)
c.18023T>A (p.Leu6008His)
c.18008T>A (p.Leu6003His)
c.17924T>A (p.Leu5975His)
c.11222T>A (p.Leu3741His)
c.11201T>A (p.Leu3734His)
n.18099T>A
5g.90985453T>CCA360429265ADGRV1c.18083T>C (p.Leu6028Pro)
c.7037T>C (p.Leu2346Pro)
n.5350T>C
c.1295T>C
c.375T>C (n.375T>C)
c.167T>C (p.Leu56Pro)
c.4532T>C (n.4532T>C)
c.5066T>C (p.Leu1689Pro)
n.18096T>C
c.18080T>C (p.Leu6027Pro)
c.18002T>C (p.Leu6001Pro)
c.15386T>C (p.Leu5129Pro)
c.18104T>C (p.Leu6035Pro)
c.18101T>C (p.Leu6034Pro)
c.18023T>C (p.Leu6008Pro)
c.18008T>C (p.Leu6003Pro)
c.17924T>C (p.Leu5975Pro)
c.11222T>C (p.Leu3741Pro)
c.11201T>C (p.Leu3734Pro)
n.18099T>C
5g.90985453T>GCA360429266ADGRV1c.18083T>G (p.Leu6028Arg)
c.7037T>G (p.Leu2346Arg)
n.5350T>G
c.1295T>G
c.375T>G (n.375T>G)
c.167T>G (p.Leu56Arg)
c.4532T>G (n.4532T>G)
c.5066T>G (p.Leu1689Arg)
n.18096T>G
c.18080T>G (p.Leu6027Arg)
c.18002T>G (p.Leu6001Arg)
c.15386T>G (p.Leu5129Arg)
c.18104T>G (p.Leu6035Arg)
c.18101T>G (p.Leu6034Arg)
c.18023T>G (p.Leu6008Arg)
c.18008T>G (p.Leu6003Arg)
c.17924T>G (p.Leu5975Arg)
c.11222T>G (p.Leu3741Arg)
c.11201T>G (p.Leu3734Arg)
n.18099T>G
5g.90985454C>ACA445441229ADGRV1c.18084C>A (p.Leu6028=)
c.7038C>A (p.Leu2346=)
n.5351C>A
c.1296C>A
c.376C>A (n.376C>A)
c.168C>A (p.Leu56=)
c.4533C>A (n.4533C>A)
c.5067C>A (p.Leu1689=)
n.18097C>A
c.18081C>A (p.Leu6027=)
c.18003C>A (p.Leu6001=)
c.15387C>A (p.Leu5129=)
c.18105C>A (p.Leu6035=)
c.18102C>A (p.Leu6034=)
c.18024C>A (p.Leu6008=)
c.18009C>A (p.Leu6003=)
c.17925C>A (p.Leu5975=)
c.11223C>A (p.Leu3741=)
c.11202C>A (p.Leu3734=)
n.18100C>A
5g.90985454C=CA1562990459ADGRV1c.18084C= (p.Leu6028=)
c.7038C= (p.Leu2346=)
n.5351C=
c.1296C=
c.376C= (n.376C=)
c.168C= (p.Leu56=)
c.4533C= (n.4533C=)
c.5067C= (p.Leu1689=)
n.18097C=
c.18081C= (p.Leu6027=)
c.18003C= (p.Leu6001=)
c.15387C= (p.Leu5129=)
c.18105C= (p.Leu6035=)
c.18102C= (p.Leu6034=)
c.18024C= (p.Leu6008=)
c.18009C= (p.Leu6003=)
c.17925C= (p.Leu5975=)
c.11223C= (p.Leu3741=)
c.11202C= (p.Leu3734=)
n.18100C=
5g.90985454C>GCA445441230ADGRV1c.18084C>G (p.Leu6028=)
c.7038C>G (p.Leu2346=)
n.5351C>G
c.1296C>G
c.376C>G (n.376C>G)
c.168C>G (p.Leu56=)
c.4533C>G (n.4533C>G)
c.5067C>G (p.Leu1689=)
n.18097C>G
c.18081C>G (p.Leu6027=)
c.18003C>G (p.Leu6001=)
c.15387C>G (p.Leu5129=)
c.18105C>G (p.Leu6035=)
c.18102C>G (p.Leu6034=)
c.18024C>G (p.Leu6008=)
c.18009C>G (p.Leu6003=)
c.17925C>G (p.Leu5975=)
c.11223C>G (p.Leu3741=)
c.11202C>G (p.Leu3734=)
n.18100C>G
5g.90985454C>TCA122930916ADGRV1c.18084C>T (p.Leu6028=)
c.7038C>T (p.Leu2346=)
n.5351C>T
c.1296C>T
c.376C>T (n.376C>T)
c.168C>T (p.Leu56=)
c.4533C>T (n.4533C>T)
c.5067C>T (p.Leu1689=)
n.18097C>T
c.18081C>T (p.Leu6027=)
c.18003C>T (p.Leu6001=)
c.15387C>T (p.Leu5129=)
c.18105C>T (p.Leu6035=)
c.18102C>T (p.Leu6034=)
c.18024C>T (p.Leu6008=)
c.18009C>T (p.Leu6003=)
c.17925C>T (p.Leu5975=)
c.11223C>T (p.Leu3741=)
c.11202C>T (p.Leu3734=)
n.18100C>T
 dbSNP gnomAD v4
5g.90985455A=CA1562990462ADGRV1c.18085A= (p.Ile6029=)
c.7039A= (p.Ile2347=)
n.5352A=
c.1297A=
c.377A= (n.377A=)
c.169A= (p.Ile57=)
c.4534A= (n.4534A=)
c.5068A= (p.Ile1690=)
n.18098A=
c.18082A= (p.Ile6028=)
c.18004A= (p.Ile6002=)
c.15388A= (p.Ile5130=)
c.18106A= (p.Ile6036=)
c.18103A= (p.Ile6035=)
c.18025A= (p.Ile6009=)
c.18010A= (p.Ile6004=)
c.17926A= (p.Ile5976=)
c.11224A= (p.Ile3742=)
c.11203A= (p.Ile3735=)
n.18101A=
5g.90985455A>CCA360429267ADGRV1c.18085A>C (p.Ile6029Leu)
c.7039A>C (p.Ile2347Leu)
n.5352A>C
c.1297A>C
c.377A>C (n.377A>C)
c.169A>C (p.Ile57Leu)
c.4534A>C (n.4534A>C)
c.5068A>C (p.Ile1690Leu)
n.18098A>C
c.18082A>C (p.Ile6028Leu)
c.18004A>C (p.Ile6002Leu)
c.15388A>C (p.Ile5130Leu)
c.18106A>C (p.Ile6036Leu)
c.18103A>C (p.Ile6035Leu)
c.18025A>C (p.Ile6009Leu)
c.18010A>C (p.Ile6004Leu)
c.17926A>C (p.Ile5976Leu)
c.11224A>C (p.Ile3742Leu)
c.11203A>C (p.Ile3735Leu)
n.18101A>C
5g.90985455A>GCA3342553ADGRV1c.18085A>G (p.Ile6029Val)
c.7039A>G (p.Ile2347Val)
n.5352A>G
c.1297A>G
c.377A>G (n.377A>G)
c.169A>G (p.Ile57Val)
c.4534A>G (n.4534A>G)
c.5068A>G (p.Ile1690Val)
n.18098A>G
c.18082A>G (p.Ile6028Val)
c.18004A>G (p.Ile6002Val)
c.15388A>G (p.Ile5130Val)
c.18106A>G (p.Ile6036Val)
c.18103A>G (p.Ile6035Val)
c.18025A>G (p.Ile6009Val)
c.18010A>G (p.Ile6004Val)
c.17926A>G (p.Ile5976Val)
c.11224A>G (p.Ile3742Val)
c.11203A>G (p.Ile3735Val)
n.18101A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985455A>TCA360429268ADGRV1c.18085A>T (p.Ile6029Leu)
c.7039A>T (p.Ile2347Leu)
n.5352A>T
c.1297A>T
c.377A>T (n.377A>T)
c.169A>T (p.Ile57Leu)
c.4534A>T (n.4534A>T)
c.5068A>T (p.Ile1690Leu)
n.18098A>T
c.18082A>T (p.Ile6028Leu)
c.18004A>T (p.Ile6002Leu)
c.15388A>T (p.Ile5130Leu)
c.18106A>T (p.Ile6036Leu)
c.18103A>T (p.Ile6035Leu)
c.18025A>T (p.Ile6009Leu)
c.18010A>T (p.Ile6004Leu)
c.17926A>T (p.Ile5976Leu)
c.11224A>T (p.Ile3742Leu)
c.11203A>T (p.Ile3735Leu)
n.18101A>T
5g.90985456T>ACA360429270ADGRV1c.18086T>A (p.Ile6029Lys)
c.7040T>A (p.Ile2347Lys)
n.5353T>A
c.1298T>A
c.378T>A (n.378T>A)
c.170T>A (p.Ile57Lys)
c.4535T>A (n.4535T>A)
c.5069T>A (p.Ile1690Lys)
n.18099T>A
c.18083T>A (p.Ile6028Lys)
c.18005T>A (p.Ile6002Lys)
c.15389T>A (p.Ile5130Lys)
c.18107T>A (p.Ile6036Lys)
c.18104T>A (p.Ile6035Lys)
c.18026T>A (p.Ile6009Lys)
c.18011T>A (p.Ile6004Lys)
c.17927T>A (p.Ile5976Lys)
c.11225T>A (p.Ile3742Lys)
c.11204T>A (p.Ile3735Lys)
n.18102T>A
5g.90985456T>CCA360429271ADGRV1c.18086T>C (p.Ile6029Thr)
c.7040T>C (p.Ile2347Thr)
n.5353T>C
c.1298T>C
c.378T>C (n.378T>C)
c.170T>C (p.Ile57Thr)
c.4535T>C (n.4535T>C)
c.5069T>C (p.Ile1690Thr)
n.18099T>C
c.18083T>C (p.Ile6028Thr)
c.18005T>C (p.Ile6002Thr)
c.15389T>C (p.Ile5130Thr)
c.18107T>C (p.Ile6036Thr)
c.18104T>C (p.Ile6035Thr)
c.18026T>C (p.Ile6009Thr)
c.18011T>C (p.Ile6004Thr)
c.17927T>C (p.Ile5976Thr)
c.11225T>C (p.Ile3742Thr)
c.11204T>C (p.Ile3735Thr)
n.18102T>C
 ClinVar gnomAD v4
5g.90985456T>GCA360429269ADGRV1c.18086T>G (p.Ile6029Arg)
c.7040T>G (p.Ile2347Arg)
n.5353T>G
c.1298T>G
c.378T>G (n.378T>G)
c.170T>G (p.Ile57Arg)
c.4535T>G (n.4535T>G)
c.5069T>G (p.Ile1690Arg)
n.18099T>G
c.18083T>G (p.Ile6028Arg)
c.18005T>G (p.Ile6002Arg)
c.15389T>G (p.Ile5130Arg)
c.18107T>G (p.Ile6036Arg)
c.18104T>G (p.Ile6035Arg)
c.18026T>G (p.Ile6009Arg)
c.18011T>G (p.Ile6004Arg)
c.17927T>G (p.Ile5976Arg)
c.11225T>G (p.Ile3742Arg)
c.11204T>G (p.Ile3735Arg)
n.18102T>G
5g.90985457A=CA1562990465ADGRV1c.18087A= (p.Ile6029=)
c.7041A= (p.Ile2347=)
n.5354A=
c.1299A=
c.379A= (n.379A=)
c.171A= (p.Ile57=)
c.4536A= (n.4536A=)
c.5070A= (p.Ile1690=)
n.18100A=
c.18084A= (p.Ile6028=)
c.18006A= (p.Ile6002=)
c.15390A= (p.Ile5130=)
c.18108A= (p.Ile6036=)
c.18105A= (p.Ile6035=)
c.18027A= (p.Ile6009=)
c.18012A= (p.Ile6004=)
c.17928A= (p.Ile5976=)
c.11226A= (p.Ile3742=)
c.11205A= (p.Ile3735=)
n.18103A=
5g.90985457A>CCA445441243ADGRV1c.18087A>C (p.Ile6029=)
c.7041A>C (p.Ile2347=)
n.5354A>C
c.1299A>C
c.379A>C (n.379A>C)
c.171A>C (p.Ile57=)
c.4536A>C (n.4536A>C)
c.5070A>C (p.Ile1690=)
n.18100A>C
c.18084A>C (p.Ile6028=)
c.18006A>C (p.Ile6002=)
c.15390A>C (p.Ile5130=)
c.18108A>C (p.Ile6036=)
c.18105A>C (p.Ile6035=)
c.18027A>C (p.Ile6009=)
c.18012A>C (p.Ile6004=)
c.17928A>C (p.Ile5976=)
c.11226A>C (p.Ile3742=)
c.11205A>C (p.Ile3735=)
n.18103A>C
5g.90985457A>GCA122930941ADGRV1c.18087A>G (p.Ile6029Met)
c.7041A>G (p.Ile2347Met)
n.5354A>G
c.1299A>G
c.379A>G (n.379A>G)
c.171A>G (p.Ile57Met)
c.4536A>G (n.4536A>G)
c.5070A>G (p.Ile1690Met)
n.18100A>G
c.18084A>G (p.Ile6028Met)
c.18006A>G (p.Ile6002Met)
c.15390A>G (p.Ile5130Met)
c.18108A>G (p.Ile6036Met)
c.18105A>G (p.Ile6035Met)
c.18027A>G (p.Ile6009Met)
c.18012A>G (p.Ile6004Met)
c.17928A>G (p.Ile5976Met)
c.11226A>G (p.Ile3742Met)
c.11205A>G (p.Ile3735Met)
n.18103A>G
 ClinVar dbSNP gnomAD v4
5g.90985457A>TCA445441246ADGRV1c.18087A>T (p.Ile6029=)
c.7041A>T (p.Ile2347=)
n.5354A>T
c.1299A>T
c.379A>T (n.379A>T)
c.171A>T (p.Ile57=)
c.4536A>T (n.4536A>T)
c.5070A>T (p.Ile1690=)
n.18100A>T
c.18084A>T (p.Ile6028=)
c.18006A>T (p.Ile6002=)
c.15390A>T (p.Ile5130=)
c.18108A>T (p.Ile6036=)
c.18105A>T (p.Ile6035=)
c.18027A>T (p.Ile6009=)
c.18012A>T (p.Ile6004=)
c.17928A>T (p.Ile5976=)
c.11226A>T (p.Ile3742=)
c.11205A>T (p.Ile3735=)
n.18103A>T
5g.90985458G>ACA360429272ADGRV1c.18088G>A (p.Val6030Ile)
c.7042G>A (p.Val2348Ile)
n.5355G>A
c.1300G>A
c.380G>A (n.380G>A)
c.172G>A (p.Val58Ile)
c.4537G>A (n.4537G>A)
c.5071G>A (p.Val1691Ile)
n.18101G>A
c.18085G>A (p.Val6029Ile)
c.18007G>A (p.Val6003Ile)
c.15391G>A (p.Val5131Ile)
c.18109G>A (p.Val6037Ile)
c.18106G>A (p.Val6036Ile)
c.18028G>A (p.Val6010Ile)
c.18013G>A (p.Val6005Ile)
c.17929G>A (p.Val5977Ile)
c.11227G>A (p.Val3743Ile)
c.11206G>A (p.Val3736Ile)
n.18104G>A
 gnomAD v4
5g.90985458G>CCA360429273ADGRV1c.18088G>C (p.Val6030Leu)
c.7042G>C (p.Val2348Leu)
n.5355G>C
c.1300G>C
c.380G>C (n.380G>C)
c.172G>C (p.Val58Leu)
c.4537G>C (n.4537G>C)
c.5071G>C (p.Val1691Leu)
n.18101G>C
c.18085G>C (p.Val6029Leu)
c.18007G>C (p.Val6003Leu)
c.15391G>C (p.Val5131Leu)
c.18109G>C (p.Val6037Leu)
c.18106G>C (p.Val6036Leu)
c.18028G>C (p.Val6010Leu)
c.18013G>C (p.Val6005Leu)
c.17929G>C (p.Val5977Leu)
c.11227G>C (p.Val3743Leu)
c.11206G>C (p.Val3736Leu)
n.18104G>C
5g.90985458G=CA1562990468ADGRV1c.18088G= (p.Val6030=)
c.7042G= (p.Val2348=)
n.5355G=
c.1300G=
c.380G= (n.380G=)
c.172G= (p.Val58=)
c.4537G= (n.4537G=)
c.5071G= (p.Val1691=)
n.18101G=
c.18085G= (p.Val6029=)
c.18007G= (p.Val6003=)
c.15391G= (p.Val5131=)
c.18109G= (p.Val6037=)
c.18106G= (p.Val6036=)
c.18028G= (p.Val6010=)
c.18013G= (p.Val6005=)
c.17929G= (p.Val5977=)
c.11227G= (p.Val3743=)
c.11206G= (p.Val3736=)
n.18104G=
5g.90985458G>TCA360429274ADGRV1c.18088G>T (p.Val6030Phe)
c.7042G>T (p.Val2348Phe)
n.5355G>T
c.1300G>T
c.380G>T (n.380G>T)
c.172G>T (p.Val58Phe)
c.4537G>T (n.4537G>T)
c.5071G>T (p.Val1691Phe)
n.18101G>T
c.18085G>T (p.Val6029Phe)
c.18007G>T (p.Val6003Phe)
c.15391G>T (p.Val5131Phe)
c.18109G>T (p.Val6037Phe)
c.18106G>T (p.Val6036Phe)
c.18028G>T (p.Val6010Phe)
c.18013G>T (p.Val6005Phe)
c.17929G>T (p.Val5977Phe)
c.11227G>T (p.Val3743Phe)
c.11206G>T (p.Val3736Phe)
n.18104G>T
 dbSNP
5g.90985459T>ACA360429275ADGRV1c.18089T>A (p.Val6030Asp)
c.7043T>A (p.Val2348Asp)
n.5356T>A
c.1301T>A
c.381T>A (n.381T>A)
c.173T>A (p.Val58Asp)
c.4538T>A (n.4538T>A)
c.5072T>A (p.Val1691Asp)
n.18102T>A
c.18086T>A (p.Val6029Asp)
c.18008T>A (p.Val6003Asp)
c.15392T>A (p.Val5131Asp)
c.18110T>A (p.Val6037Asp)
c.18107T>A (p.Val6036Asp)
c.18029T>A (p.Val6010Asp)
c.18014T>A (p.Val6005Asp)
c.17930T>A (p.Val5977Asp)
c.11228T>A (p.Val3743Asp)
c.11207T>A (p.Val3736Asp)
n.18105T>A
5g.90985459T>CCA122930963ADGRV1c.18089T>C (p.Val6030Ala)
c.7043T>C (p.Val2348Ala)
n.5356T>C
c.1301T>C
c.381T>C (n.381T>C)
c.173T>C (p.Val58Ala)
c.4538T>C (n.4538T>C)
c.5072T>C (p.Val1691Ala)
n.18102T>C
c.18086T>C (p.Val6029Ala)
c.18008T>C (p.Val6003Ala)
c.15392T>C (p.Val5131Ala)
c.18110T>C (p.Val6037Ala)
c.18107T>C (p.Val6036Ala)
c.18029T>C (p.Val6010Ala)
c.18014T>C (p.Val6005Ala)
c.17930T>C (p.Val5977Ala)
c.11228T>C (p.Val3743Ala)
c.11207T>C (p.Val3736Ala)
n.18105T>C
 ClinVar dbSNP gnomAD v4
5g.90985459T>GCA360429276ADGRV1c.18089T>G (p.Val6030Gly)
c.7043T>G (p.Val2348Gly)
n.5356T>G
c.1301T>G
c.381T>G (n.381T>G)
c.173T>G (p.Val58Gly)
c.4538T>G (n.4538T>G)
c.5072T>G (p.Val1691Gly)
n.18102T>G
c.18086T>G (p.Val6029Gly)
c.18008T>G (p.Val6003Gly)
c.15392T>G (p.Val5131Gly)
c.18110T>G (p.Val6037Gly)
c.18107T>G (p.Val6036Gly)
c.18029T>G (p.Val6010Gly)
c.18014T>G (p.Val6005Gly)
c.17930T>G (p.Val5977Gly)
c.11228T>G (p.Val3743Gly)
c.11207T>G (p.Val3736Gly)
n.18105T>G
5g.90985459T=CA1562990470ADGRV1c.18089T= (p.Val6030=)
c.7043T= (p.Val2348=)
n.5356T=
c.1301T=
c.381T= (n.381T=)
c.173T= (p.Val58=)
c.4538T= (n.4538T=)
c.5072T= (p.Val1691=)
n.18102T=
c.18086T= (p.Val6029=)
c.18008T= (p.Val6003=)
c.15392T= (p.Val5131=)
c.18110T= (p.Val6037=)
c.18107T= (p.Val6036=)
c.18029T= (p.Val6010=)
c.18014T= (p.Val6005=)
c.17930T= (p.Val5977=)
c.11228T= (p.Val3743=)
c.11207T= (p.Val3736=)
n.18105T=
5g.90985460T>ACA445441256ADGRV1c.18090T>A (p.Val6030=)
c.7044T>A (p.Val2348=)
n.5357T>A
c.1302T>A
c.382T>A (n.382T>A)
c.174T>A (p.Val58=)
c.4539T>A (n.4539T>A)
c.5073T>A (p.Val1691=)
n.18103T>A
c.18087T>A (p.Val6029=)
c.18009T>A (p.Val6003=)
c.15393T>A (p.Val5131=)
c.18111T>A (p.Val6037=)
c.18108T>A (p.Val6036=)
c.18030T>A (p.Val6010=)
c.18015T>A (p.Val6005=)
c.17931T>A (p.Val5977=)
c.11229T>A (p.Val3743=)
c.11208T>A (p.Val3736=)
n.18106T>A
 gnomAD v4
5g.90985460T>CCA445441255ADGRV1c.18090T>C (p.Val6030=)
c.7044T>C (p.Val2348=)
n.5357T>C
c.1302T>C
c.382T>C (n.382T>C)
c.174T>C (p.Val58=)
c.4539T>C (n.4539T>C)
c.5073T>C (p.Val1691=)
n.18103T>C
c.18087T>C (p.Val6029=)
c.18009T>C (p.Val6003=)
c.15393T>C (p.Val5131=)
c.18111T>C (p.Val6037=)
c.18108T>C (p.Val6036=)
c.18030T>C (p.Val6010=)
c.18015T>C (p.Val6005=)
c.17931T>C (p.Val5977=)
c.11229T>C (p.Val3743=)
c.11208T>C (p.Val3736=)
n.18106T>C
5g.90985460T>GCA445441254ADGRV1c.18090T>G (p.Val6030=)
c.7044T>G (p.Val2348=)
n.5357T>G
c.1302T>G
c.382T>G (n.382T>G)
c.174T>G (p.Val58=)
c.4539T>G (n.4539T>G)
c.5073T>G (p.Val1691=)
n.18103T>G
c.18087T>G (p.Val6029=)
c.18009T>G (p.Val6003=)
c.15393T>G (p.Val5131=)
c.18111T>G (p.Val6037=)
c.18108T>G (p.Val6036=)
c.18030T>G (p.Val6010=)
c.18015T>G (p.Val6005=)
c.17931T>G (p.Val5977=)
c.11229T>G (p.Val3743=)
c.11208T>G (p.Val3736=)
n.18106T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90985460T=CA1562990475ADGRV1c.18090T= (p.Val6030=)
c.7044T= (p.Val2348=)
n.5357T=
c.1302T=
c.382T= (n.382T=)
c.174T= (p.Val58=)
c.4539T= (n.4539T=)
c.5073T= (p.Val1691=)
n.18103T=
c.18087T= (p.Val6029=)
c.18009T= (p.Val6003=)
c.15393T= (p.Val5131=)
c.18111T= (p.Val6037=)
c.18108T= (p.Val6036=)
c.18030T= (p.Val6010=)
c.18015T= (p.Val6005=)
c.17931T= (p.Val5977=)
c.11229T= (p.Val3743=)
c.11208T= (p.Val3736=)
n.18106T=
5g.90985461A=CA1562990479ADGRV1c.18091A= (p.Ile6031=)
c.7045A= (p.Ile2349=)
n.5358A=
c.1303A=
c.383A= (n.383A=)
c.175A= (p.Ile59=)
c.4540A= (n.4540A=)
c.5074A= (p.Ile1692=)
n.18104A=
c.18088A= (p.Ile6030=)
c.18010A= (p.Ile6004=)
c.15394A= (p.Ile5132=)
c.18112A= (p.Ile6038=)
c.18109A= (p.Ile6037=)
c.18031A= (p.Ile6011=)
c.18016A= (p.Ile6006=)
c.17932A= (p.Ile5978=)
c.11230A= (p.Ile3744=)
c.11209A= (p.Ile3737=)
n.18107A=
5g.90985461A>CCA3342554ADGRV1c.18091A>C (p.Ile6031Leu)
c.7045A>C (p.Ile2349Leu)
n.5358A>C
c.1303A>C
c.383A>C (n.383A>C)
c.175A>C (p.Ile59Leu)
c.4540A>C (n.4540A>C)
c.5074A>C (p.Ile1692Leu)
n.18104A>C
c.18088A>C (p.Ile6030Leu)
c.18010A>C (p.Ile6004Leu)
c.15394A>C (p.Ile5132Leu)
c.18112A>C (p.Ile6038Leu)
c.18109A>C (p.Ile6037Leu)
c.18031A>C (p.Ile6011Leu)
c.18016A>C (p.Ile6006Leu)
c.17932A>C (p.Ile5978Leu)
c.11230A>C (p.Ile3744Leu)
c.11209A>C (p.Ile3737Leu)
n.18107A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985461A>GCA360429277ADGRV1c.18091A>G (p.Ile6031Val)
c.7045A>G (p.Ile2349Val)
n.5358A>G
c.1303A>G
c.383A>G (n.383A>G)
c.175A>G (p.Ile59Val)
c.4540A>G (n.4540A>G)
c.5074A>G (p.Ile1692Val)
n.18104A>G
c.18088A>G (p.Ile6030Val)
c.18010A>G (p.Ile6004Val)
c.15394A>G (p.Ile5132Val)
c.18112A>G (p.Ile6038Val)
c.18109A>G (p.Ile6037Val)
c.18031A>G (p.Ile6011Val)
c.18016A>G (p.Ile6006Val)
c.17932A>G (p.Ile5978Val)
c.11230A>G (p.Ile3744Val)
c.11209A>G (p.Ile3737Val)
n.18107A>G
 gnomAD v4
5g.90985461A>TCA360429278ADGRV1c.18091A>T (p.Ile6031Phe)
c.7045A>T (p.Ile2349Phe)
n.5358A>T
c.1303A>T
c.383A>T (n.383A>T)
c.175A>T (p.Ile59Phe)
c.4540A>T (n.4540A>T)
c.5074A>T (p.Ile1692Phe)
n.18104A>T
c.18088A>T (p.Ile6030Phe)
c.18010A>T (p.Ile6004Phe)
c.15394A>T (p.Ile5132Phe)
c.18112A>T (p.Ile6038Phe)
c.18109A>T (p.Ile6037Phe)
c.18031A>T (p.Ile6011Phe)
c.18016A>T (p.Ile6006Phe)
c.17932A>T (p.Ile5978Phe)
c.11230A>T (p.Ile3744Phe)
c.11209A>T (p.Ile3737Phe)
n.18107A>T
5g.90985462T>ACA360429279ADGRV1c.18092T>A (p.Ile6031Asn)
c.7046T>A (p.Ile2349Asn)
n.5359T>A
c.1304T>A
c.384T>A (n.384T>A)
c.176T>A (p.Ile59Asn)
c.4541T>A (n.4541T>A)
c.5075T>A (p.Ile1692Asn)
n.18105T>A
c.18089T>A (p.Ile6030Asn)
c.18011T>A (p.Ile6004Asn)
c.15395T>A (p.Ile5132Asn)
c.18113T>A (p.Ile6038Asn)
c.18110T>A (p.Ile6037Asn)
c.18032T>A (p.Ile6011Asn)
c.18017T>A (p.Ile6006Asn)
c.17933T>A (p.Ile5978Asn)
c.11231T>A (p.Ile3744Asn)
c.11210T>A (p.Ile3737Asn)
n.18108T>A
5g.90985462T>CCA3342555ADGRV1c.18092T>C (p.Ile6031Thr)
c.7046T>C (p.Ile2349Thr)
n.5359T>C
c.1304T>C
c.384T>C (n.384T>C)
c.176T>C (p.Ile59Thr)
c.4541T>C (n.4541T>C)
c.5075T>C (p.Ile1692Thr)
n.18105T>C
c.18089T>C (p.Ile6030Thr)
c.18011T>C (p.Ile6004Thr)
c.15395T>C (p.Ile5132Thr)
c.18113T>C (p.Ile6038Thr)
c.18110T>C (p.Ile6037Thr)
c.18032T>C (p.Ile6011Thr)
c.18017T>C (p.Ile6006Thr)
c.17933T>C (p.Ile5978Thr)
c.11231T>C (p.Ile3744Thr)
c.11210T>C (p.Ile3737Thr)
n.18108T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985462T>GCA360429280ADGRV1c.18092T>G (p.Ile6031Ser)
c.7046T>G (p.Ile2349Ser)
n.5359T>G
c.1304T>G
c.384T>G (n.384T>G)
c.176T>G (p.Ile59Ser)
c.4541T>G (n.4541T>G)
c.5075T>G (p.Ile1692Ser)
n.18105T>G
c.18089T>G (p.Ile6030Ser)
c.18011T>G (p.Ile6004Ser)
c.15395T>G (p.Ile5132Ser)
c.18113T>G (p.Ile6038Ser)
c.18110T>G (p.Ile6037Ser)
c.18032T>G (p.Ile6011Ser)
c.18017T>G (p.Ile6006Ser)
c.17933T>G (p.Ile5978Ser)
c.11231T>G (p.Ile3744Ser)
c.11210T>G (p.Ile3737Ser)
n.18108T>G
5g.90985462T=CA1562990484ADGRV1c.18092T= (p.Ile6031=)
c.7046T= (p.Ile2349=)
n.5359T=
c.1304T=
c.384T= (n.384T=)
c.176T= (p.Ile59=)
c.4541T= (n.4541T=)
c.5075T= (p.Ile1692=)
n.18105T=
c.18089T= (p.Ile6030=)
c.18011T= (p.Ile6004=)
c.15395T= (p.Ile5132=)
c.18113T= (p.Ile6038=)
c.18110T= (p.Ile6037=)
c.18032T= (p.Ile6011=)
c.18017T= (p.Ile6006=)
c.17933T= (p.Ile5978=)
c.11231T= (p.Ile3744=)
c.11210T= (p.Ile3737=)
n.18108T=
5g.90985463T>ACA445441258ADGRV1c.18093T>A (p.Ile6031=)
c.7047T>A (p.Ile2349=)
n.5360T>A
c.1305T>A
c.385T>A (n.385T>A)
c.177T>A (p.Ile59=)
c.4542T>A (n.4542T>A)
c.5076T>A (p.Ile1692=)
n.18106T>A
c.18090T>A (p.Ile6030=)
c.18012T>A (p.Ile6004=)
c.15396T>A (p.Ile5132=)
c.18114T>A (p.Ile6038=)
c.18111T>A (p.Ile6037=)
c.18033T>A (p.Ile6011=)
c.18018T>A (p.Ile6006=)
c.17934T>A (p.Ile5978=)
c.11232T>A (p.Ile3744=)
c.11211T>A (p.Ile3737=)
n.18109T>A
5g.90985463T>CCA445441259ADGRV1c.18093T>C (p.Ile6031=)
c.7047T>C (p.Ile2349=)
n.5360T>C
c.1305T>C
c.385T>C (n.385T>C)
c.177T>C (p.Ile59=)
c.4542T>C (n.4542T>C)
c.5076T>C (p.Ile1692=)
n.18106T>C
c.18090T>C (p.Ile6030=)
c.18012T>C (p.Ile6004=)
c.15396T>C (p.Ile5132=)
c.18114T>C (p.Ile6038=)
c.18111T>C (p.Ile6037=)
c.18033T>C (p.Ile6011=)
c.18018T>C (p.Ile6006=)
c.17934T>C (p.Ile5978=)
c.11232T>C (p.Ile3744=)
c.11211T>C (p.Ile3737=)
n.18109T>C
5g.90985463T>GCA360429281ADGRV1c.18093T>G (p.Ile6031Met)
c.7047T>G (p.Ile2349Met)
n.5360T>G
c.1305T>G
c.385T>G (n.385T>G)
c.177T>G (p.Ile59Met)
c.4542T>G (n.4542T>G)
c.5076T>G (p.Ile1692Met)
n.18106T>G
c.18090T>G (p.Ile6030Met)
c.18012T>G (p.Ile6004Met)
c.15396T>G (p.Ile5132Met)
c.18114T>G (p.Ile6038Met)
c.18111T>G (p.Ile6037Met)
c.18033T>G (p.Ile6011Met)
c.18018T>G (p.Ile6006Met)
c.17934T>G (p.Ile5978Met)
c.11232T>G (p.Ile3744Met)
c.11211T>G (p.Ile3737Met)
n.18109T>G
5g.90985464T>ACA360429282ADGRV1c.18094T>A (p.Leu6032Met)
c.7048T>A (p.Leu2350Met)
n.5361T>A
c.1306T>A
c.386T>A (n.386T>A)
c.178T>A (p.Leu60Met)
c.4543T>A (n.4543T>A)
c.5077T>A (p.Leu1693Met)
n.18107T>A
c.18091T>A (p.Leu6031Met)
c.18013T>A (p.Leu6005Met)
c.15397T>A (p.Leu5133Met)
c.18115T>A (p.Leu6039Met)
c.18112T>A (p.Leu6038Met)
c.18034T>A (p.Leu6012Met)
c.18019T>A (p.Leu6007Met)
c.17935T>A (p.Leu5979Met)
c.11233T>A (p.Leu3745Met)
c.11212T>A (p.Leu3738Met)
n.18110T>A
5g.90985464T>CCA3342556ADGRV1c.18094T>C (p.Leu6032=)
c.7048T>C (p.Leu2350=)
n.5361T>C
c.1306T>C
c.386T>C (n.386T>C)
c.178T>C (p.Leu60=)
c.4543T>C (n.4543T>C)
c.5077T>C (p.Leu1693=)
n.18107T>C
c.18091T>C (p.Leu6031=)
c.18013T>C (p.Leu6005=)
c.15397T>C (p.Leu5133=)
c.18115T>C (p.Leu6039=)
c.18112T>C (p.Leu6038=)
c.18034T>C (p.Leu6012=)
c.18019T>C (p.Leu6007=)
c.17935T>C (p.Leu5979=)
c.11233T>C (p.Leu3745=)
c.11212T>C (p.Leu3738=)
n.18110T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985464T>GCA360429283ADGRV1c.18094T>G (p.Leu6032Val)
c.7048T>G (p.Leu2350Val)
n.5361T>G
c.1306T>G
c.386T>G (n.386T>G)
c.178T>G (p.Leu60Val)
c.4543T>G (n.4543T>G)
c.5077T>G (p.Leu1693Val)
n.18107T>G
c.18091T>G (p.Leu6031Val)
c.18013T>G (p.Leu6005Val)
c.15397T>G (p.Leu5133Val)
c.18115T>G (p.Leu6039Val)
c.18112T>G (p.Leu6038Val)
c.18034T>G (p.Leu6012Val)
c.18019T>G (p.Leu6007Val)
c.17935T>G (p.Leu5979Val)
c.11233T>G (p.Leu3745Val)
c.11212T>G (p.Leu3738Val)
n.18110T>G
5g.90985464T=CA1562990489ADGRV1c.18094T= (p.Leu6032=)
c.7048T= (p.Leu2350=)
n.5361T=
c.1306T=
c.386T= (n.386T=)
c.178T= (p.Leu60=)
c.4543T= (n.4543T=)
c.5077T= (p.Leu1693=)
n.18107T=
c.18091T= (p.Leu6031=)
c.18013T= (p.Leu6005=)
c.15397T= (p.Leu5133=)
c.18115T= (p.Leu6039=)
c.18112T= (p.Leu6038=)
c.18034T= (p.Leu6012=)
c.18019T= (p.Leu6007=)
c.17935T= (p.Leu5979=)
c.11233T= (p.Leu3745=)
c.11212T= (p.Leu3738=)
n.18110T=
5g.90985465T>ACA360429284ADGRV1c.18095T>A (p.Leu6032Ter)
c.7049T>A (p.Leu2350Ter)
n.5362T>A
c.1307T>A
c.387T>A (n.387T>A)
c.179T>A (p.Leu60Ter)
c.4544T>A (n.4544T>A)
c.5078T>A (p.Leu1693Ter)
n.18108T>A
c.18092T>A (p.Leu6031Ter)
c.18014T>A (p.Leu6005Ter)
c.15398T>A (p.Leu5133Ter)
c.18116T>A (p.Leu6039Ter)
c.18113T>A (p.Leu6038Ter)
c.18035T>A (p.Leu6012Ter)
c.18020T>A (p.Leu6007Ter)
c.17936T>A (p.Leu5979Ter)
c.11234T>A (p.Leu3745Ter)
c.11213T>A (p.Leu3738Ter)
n.18111T>A
5g.90985465T>CCA360429285ADGRV1c.18095T>C (p.Leu6032Ser)
c.7049T>C (p.Leu2350Ser)
n.5362T>C
c.1307T>C
c.387T>C (n.387T>C)
c.179T>C (p.Leu60Ser)
c.4544T>C (n.4544T>C)
c.5078T>C (p.Leu1693Ser)
n.18108T>C
c.18092T>C (p.Leu6031Ser)
c.18014T>C (p.Leu6005Ser)
c.15398T>C (p.Leu5133Ser)
c.18116T>C (p.Leu6039Ser)
c.18113T>C (p.Leu6038Ser)
c.18035T>C (p.Leu6012Ser)
c.18020T>C (p.Leu6007Ser)
c.17936T>C (p.Leu5979Ser)
c.11234T>C (p.Leu3745Ser)
c.11213T>C (p.Leu3738Ser)
n.18111T>C
 COSMIC
5g.90985465T>GCA360429286ADGRV1c.18095T>G (p.Leu6032Trp)
c.7049T>G (p.Leu2350Trp)
n.5362T>G
c.1307T>G
c.387T>G (n.387T>G)
c.179T>G (p.Leu60Trp)
c.4544T>G (n.4544T>G)
c.5078T>G (p.Leu1693Trp)
n.18108T>G
c.18092T>G (p.Leu6031Trp)
c.18014T>G (p.Leu6005Trp)
c.15398T>G (p.Leu5133Trp)
c.18116T>G (p.Leu6039Trp)
c.18113T>G (p.Leu6038Trp)
c.18035T>G (p.Leu6012Trp)
c.18020T>G (p.Leu6007Trp)
c.17936T>G (p.Leu5979Trp)
c.11234T>G (p.Leu3745Trp)
c.11213T>G (p.Leu3738Trp)
n.18111T>G
5g.90985466G>ACA445441267ADGRV1c.18096G>A (p.Leu6032=)
c.7050G>A (p.Leu2350=)
n.5363G>A
c.1308G>A
c.388G>A (n.388G>A)
c.180G>A (p.Leu60=)
c.4545G>A (n.4545G>A)
c.5079G>A (p.Leu1693=)
n.18109G>A
c.18093G>A (p.Leu6031=)
c.18015G>A (p.Leu6005=)
c.15399G>A (p.Leu5133=)
c.18117G>A (p.Leu6039=)
c.18114G>A (p.Leu6038=)
c.18036G>A (p.Leu6012=)
c.18021G>A (p.Leu6007=)
c.17937G>A (p.Leu5979=)
c.11235G>A (p.Leu3745=)
c.11214G>A (p.Leu3738=)
n.18112G>A
5g.90985466G>CCA360429287ADGRV1c.18096G>C (p.Leu6032Phe)
c.7050G>C (p.Leu2350Phe)
n.5363G>C
c.1308G>C
c.388G>C (n.388G>C)
c.180G>C (p.Leu60Phe)
c.4545G>C (n.4545G>C)
c.5079G>C (p.Leu1693Phe)
n.18109G>C
c.18093G>C (p.Leu6031Phe)
c.18015G>C (p.Leu6005Phe)
c.15399G>C (p.Leu5133Phe)
c.18117G>C (p.Leu6039Phe)
c.18114G>C (p.Leu6038Phe)
c.18036G>C (p.Leu6012Phe)
c.18021G>C (p.Leu6007Phe)
c.17937G>C (p.Leu5979Phe)
c.11235G>C (p.Leu3745Phe)
c.11214G>C (p.Leu3738Phe)
n.18112G>C
5g.90985466G>TCA360429288ADGRV1c.18096G>T (p.Leu6032Phe)
c.7050G>T (p.Leu2350Phe)
n.5363G>T
c.1308G>T
c.388G>T (n.388G>T)
c.180G>T (p.Leu60Phe)
c.4545G>T (n.4545G>T)
c.5079G>T (p.Leu1693Phe)
n.18109G>T
c.18093G>T (p.Leu6031Phe)
c.18015G>T (p.Leu6005Phe)
c.15399G>T (p.Leu5133Phe)
c.18117G>T (p.Leu6039Phe)
c.18114G>T (p.Leu6038Phe)
c.18036G>T (p.Leu6012Phe)
c.18021G>T (p.Leu6007Phe)
c.17937G>T (p.Leu5979Phe)
c.11235G>T (p.Leu3745Phe)
c.11214G>T (p.Leu3738Phe)
n.18112G>T
5g.90985467A>CCA360429289ADGRV1c.18097A>C (p.Lys6033Gln)
c.7051A>C (p.Lys2351Gln)
n.5364A>C
c.1309A>C
c.389A>C (n.389A>C)
c.181A>C (p.Lys61Gln)
c.4546A>C (n.4546A>C)
c.5080A>C (p.Lys1694Gln)
n.18110A>C
c.18094A>C (p.Lys6032Gln)
c.18016A>C (p.Lys6006Gln)
c.15400A>C (p.Lys5134Gln)
c.18118A>C (p.Lys6040Gln)
c.18115A>C (p.Lys6039Gln)
c.18037A>C (p.Lys6013Gln)
c.18022A>C (p.Lys6008Gln)
c.17938A>C (p.Lys5980Gln)
c.11236A>C (p.Lys3746Gln)
c.11215A>C (p.Lys3739Gln)
n.18113A>C
5g.90985467A>GCA360429290ADGRV1c.18097A>G (p.Lys6033Glu)
c.7051A>G (p.Lys2351Glu)
n.5364A>G
c.1309A>G
c.389A>G (n.389A>G)
c.181A>G (p.Lys61Glu)
c.4546A>G (n.4546A>G)
c.5080A>G (p.Lys1694Glu)
n.18110A>G
c.18094A>G (p.Lys6032Glu)
c.18016A>G (p.Lys6006Glu)
c.15400A>G (p.Lys5134Glu)
c.18118A>G (p.Lys6040Glu)
c.18115A>G (p.Lys6039Glu)
c.18037A>G (p.Lys6013Glu)
c.18022A>G (p.Lys6008Glu)
c.17938A>G (p.Lys5980Glu)
c.11236A>G (p.Lys3746Glu)
c.11215A>G (p.Lys3739Glu)
n.18113A>G
5g.90985467A>TCA360429291ADGRV1c.18097A>T (p.Lys6033Ter)
c.7051A>T (p.Lys2351Ter)
n.5364A>T
c.1309A>T
c.389A>T (n.389A>T)
c.181A>T (p.Lys61Ter)
c.4546A>T (n.4546A>T)
c.5080A>T (p.Lys1694Ter)
n.18110A>T
c.18094A>T (p.Lys6032Ter)
c.18016A>T (p.Lys6006Ter)
c.15400A>T (p.Lys5134Ter)
c.18118A>T (p.Lys6040Ter)
c.18115A>T (p.Lys6039Ter)
c.18037A>T (p.Lys6013Ter)
c.18022A>T (p.Lys6008Ter)
c.17938A>T (p.Lys5980Ter)
c.11236A>T (p.Lys3746Ter)
c.11215A>T (p.Lys3739Ter)
n.18113A>T
5g.90985468A>CCA360429292ADGRV1c.18098A>C (p.Lys6033Thr)
c.7052A>C (p.Lys2351Thr)
n.5365A>C
c.1310A>C
c.390A>C (n.390A>C)
c.182A>C (p.Lys61Thr)
c.4547A>C (n.4547A>C)
c.5081A>C (p.Lys1694Thr)
n.18111A>C
c.18095A>C (p.Lys6032Thr)
c.18017A>C (p.Lys6006Thr)
c.15401A>C (p.Lys5134Thr)
c.18119A>C (p.Lys6040Thr)
c.18116A>C (p.Lys6039Thr)
c.18038A>C (p.Lys6013Thr)
c.18023A>C (p.Lys6008Thr)
c.17939A>C (p.Lys5980Thr)
c.11237A>C (p.Lys3746Thr)
c.11216A>C (p.Lys3739Thr)
n.18114A>C
5g.90985468A>GCA360429293ADGRV1c.18098A>G (p.Lys6033Arg)
c.7052A>G (p.Lys2351Arg)
n.5365A>G
c.1310A>G
c.390A>G (n.390A>G)
c.182A>G (p.Lys61Arg)
c.4547A>G (n.4547A>G)
c.5081A>G (p.Lys1694Arg)
n.18111A>G
c.18095A>G (p.Lys6032Arg)
c.18017A>G (p.Lys6006Arg)
c.15401A>G (p.Lys5134Arg)
c.18119A>G (p.Lys6040Arg)
c.18116A>G (p.Lys6039Arg)
c.18038A>G (p.Lys6013Arg)
c.18023A>G (p.Lys6008Arg)
c.17939A>G (p.Lys5980Arg)
c.11237A>G (p.Lys3746Arg)
c.11216A>G (p.Lys3739Arg)
n.18114A>G
5g.90985468A>TCA360429294ADGRV1c.18098A>T (p.Lys6033Ile)
c.7052A>T (p.Lys2351Ile)
n.5365A>T
c.1310A>T
c.390A>T (n.390A>T)
c.182A>T (p.Lys61Ile)
c.4547A>T (n.4547A>T)
c.5081A>T (p.Lys1694Ile)
n.18111A>T
c.18095A>T (p.Lys6032Ile)
c.18017A>T (p.Lys6006Ile)
c.15401A>T (p.Lys5134Ile)
c.18119A>T (p.Lys6040Ile)
c.18116A>T (p.Lys6039Ile)
c.18038A>T (p.Lys6013Ile)
c.18023A>T (p.Lys6008Ile)
c.17939A>T (p.Lys5980Ile)
c.11237A>T (p.Lys3746Ile)
c.11216A>T (p.Lys3739Ile)
n.18114A>T
5g.90985469A>CCA360429296ADGRV1c.18099A>C (p.Lys6033Asn)
c.7053A>C (p.Lys2351Asn)
n.5366A>C
c.1311A>C
c.391A>C (n.391A>C)
c.183A>C (p.Lys61Asn)
c.4548A>C (n.4548A>C)
c.5082A>C (p.Lys1694Asn)
n.18112A>C
c.18096A>C (p.Lys6032Asn)
c.18018A>C (p.Lys6006Asn)
c.15402A>C (p.Lys5134Asn)
c.18120A>C (p.Lys6040Asn)
c.18117A>C (p.Lys6039Asn)
c.18039A>C (p.Lys6013Asn)
c.18024A>C (p.Lys6008Asn)
c.17940A>C (p.Lys5980Asn)
c.11238A>C (p.Lys3746Asn)
c.11217A>C (p.Lys3739Asn)
n.18115A>C
5g.90985469A>GCA445441279ADGRV1c.18099A>G (p.Lys6033=)
c.7053A>G (p.Lys2351=)
n.5366A>G
c.1311A>G
c.391A>G (n.391A>G)
c.183A>G (p.Lys61=)
c.4548A>G (n.4548A>G)
c.5082A>G (p.Lys1694=)
n.18112A>G
c.18096A>G (p.Lys6032=)
c.18018A>G (p.Lys6006=)
c.15402A>G (p.Lys5134=)
c.18120A>G (p.Lys6040=)
c.18117A>G (p.Lys6039=)
c.18039A>G (p.Lys6013=)
c.18024A>G (p.Lys6008=)
c.17940A>G (p.Lys5980=)
c.11238A>G (p.Lys3746=)
c.11217A>G (p.Lys3739=)
n.18115A>G
 gnomAD v4
5g.90985469A>TCA360429295ADGRV1c.18099A>T (p.Lys6033Asn)
c.7053A>T (p.Lys2351Asn)
n.5366A>T
c.1311A>T
c.391A>T (n.391A>T)
c.183A>T (p.Lys61Asn)
c.4548A>T (n.4548A>T)
c.5082A>T (p.Lys1694Asn)
n.18112A>T
c.18096A>T (p.Lys6032Asn)
c.18018A>T (p.Lys6006Asn)
c.15402A>T (p.Lys5134Asn)
c.18120A>T (p.Lys6040Asn)
c.18117A>T (p.Lys6039Asn)
c.18039A>T (p.Lys6013Asn)
c.18024A>T (p.Lys6008Asn)
c.17940A>T (p.Lys5980Asn)
c.11238A>T (p.Lys3746Asn)
c.11217A>T (p.Lys3739Asn)
n.18115A>T
5g.90985470G>ACA122931038ADGRV1c.18100G>A (p.Gly6034Arg)
c.7054G>A (p.Gly2352Arg)
n.5367G>A
c.1312G>A
c.392G>A (n.392G>A)
c.184G>A (p.Gly62Arg)
c.4549G>A (n.4549G>A)
c.5083G>A (p.Gly1695Arg)
n.18113G>A
c.18097G>A (p.Gly6033Arg)
c.18019G>A (p.Gly6007Arg)
c.15403G>A (p.Gly5135Arg)
c.18121G>A (p.Gly6041Arg)
c.18118G>A (p.Gly6040Arg)
c.18040G>A (p.Gly6014Arg)
c.18025G>A (p.Gly6009Arg)
c.17941G>A (p.Gly5981Arg)
c.11239G>A (p.Gly3747Arg)
c.11218G>A (p.Gly3740Arg)
n.18116G>A
 dbSNP
5g.90985470G>CCA360429298ADGRV1c.18100G>C (p.Gly6034Arg)
c.7054G>C (p.Gly2352Arg)
n.5367G>C
c.1312G>C
c.392G>C (n.392G>C)
c.184G>C (p.Gly62Arg)
c.4549G>C (n.4549G>C)
c.5083G>C (p.Gly1695Arg)
n.18113G>C
c.18097G>C (p.Gly6033Arg)
c.18019G>C (p.Gly6007Arg)
c.15403G>C (p.Gly5135Arg)
c.18121G>C (p.Gly6041Arg)
c.18118G>C (p.Gly6040Arg)
c.18040G>C (p.Gly6014Arg)
c.18025G>C (p.Gly6009Arg)
c.17941G>C (p.Gly5981Arg)
c.11239G>C (p.Gly3747Arg)
c.11218G>C (p.Gly3740Arg)
n.18116G>C
5g.90985470G=CA1562990494ADGRV1c.18100G= (p.Gly6034=)
c.7054G= (p.Gly2352=)
n.5367G=
c.1312G=
c.392G= (n.392G=)
c.184G= (p.Gly62=)
c.4549G= (n.4549G=)
c.5083G= (p.Gly1695=)
n.18113G=
c.18097G= (p.Gly6033=)
c.18019G= (p.Gly6007=)
c.15403G= (p.Gly5135=)
c.18121G= (p.Gly6041=)
c.18118G= (p.Gly6040=)
c.18040G= (p.Gly6014=)
c.18025G= (p.Gly6009=)
c.17941G= (p.Gly5981=)
c.11239G= (p.Gly3747=)
c.11218G= (p.Gly3740=)
n.18116G=
5g.90985470G>TCA360429297ADGRV1c.18100G>T (p.Gly6034Ter)
c.7054G>T (p.Gly2352Ter)
n.5367G>T
c.1312G>T
c.392G>T (n.392G>T)
c.184G>T (p.Gly62Ter)
c.4549G>T (n.4549G>T)
c.5083G>T (p.Gly1695Ter)
n.18113G>T
c.18097G>T (p.Gly6033Ter)
c.18019G>T (p.Gly6007Ter)
c.15403G>T (p.Gly5135Ter)
c.18121G>T (p.Gly6041Ter)
c.18118G>T (p.Gly6040Ter)
c.18040G>T (p.Gly6014Ter)
c.18025G>T (p.Gly6009Ter)
c.17941G>T (p.Gly5981Ter)
c.11239G>T (p.Gly3747Ter)
c.11218G>T (p.Gly3740Ter)
n.18116G>T
5g.90985471G>ACA360429299ADGRV1c.18101G>A (p.Gly6034Glu)
c.7055G>A (p.Gly2352Glu)
n.5368G>A
c.1313G>A
c.393G>A (n.393G>A)
c.185G>A (p.Gly62Glu)
c.4550G>A (n.4550G>A)
c.5084G>A (p.Gly1695Glu)
n.18114G>A
c.18098G>A (p.Gly6033Glu)
c.18020G>A (p.Gly6007Glu)
c.15404G>A (p.Gly5135Glu)
c.18122G>A (p.Gly6041Glu)
c.18119G>A (p.Gly6040Glu)
c.18041G>A (p.Gly6014Glu)
c.18026G>A (p.Gly6009Glu)
c.17942G>A (p.Gly5981Glu)
c.11240G>A (p.Gly3747Glu)
c.11219G>A (p.Gly3740Glu)
n.18117G>A
5g.90985471G>CCA360429300ADGRV1c.18101G>C (p.Gly6034Ala)
c.7055G>C (p.Gly2352Ala)
n.5368G>C
c.1313G>C
c.393G>C (n.393G>C)
c.185G>C (p.Gly62Ala)
c.4550G>C (n.4550G>C)
c.5084G>C (p.Gly1695Ala)
n.18114G>C
c.18098G>C (p.Gly6033Ala)
c.18020G>C (p.Gly6007Ala)
c.15404G>C (p.Gly5135Ala)
c.18122G>C (p.Gly6041Ala)
c.18119G>C (p.Gly6040Ala)
c.18041G>C (p.Gly6014Ala)
c.18026G>C (p.Gly6009Ala)
c.17942G>C (p.Gly5981Ala)
c.11240G>C (p.Gly3747Ala)
c.11219G>C (p.Gly3740Ala)
n.18117G>C
 COSMIC
5g.90985471G>TCA360429301ADGRV1c.18101G>T (p.Gly6034Val)
c.7055G>T (p.Gly2352Val)
n.5368G>T
c.1313G>T
c.393G>T (n.393G>T)
c.185G>T (p.Gly62Val)
c.4550G>T (n.4550G>T)
c.5084G>T (p.Gly1695Val)
n.18114G>T
c.18098G>T (p.Gly6033Val)
c.18020G>T (p.Gly6007Val)
c.15404G>T (p.Gly5135Val)
c.18122G>T (p.Gly6041Val)
c.18119G>T (p.Gly6040Val)
c.18041G>T (p.Gly6014Val)
c.18026G>T (p.Gly6009Val)
c.17942G>T (p.Gly5981Val)
c.11240G>T (p.Gly3747Val)
c.11219G>T (p.Gly3740Val)
n.18117G>T
5g.90985472A=CA1562990496ADGRV1c.18102A= (p.Gly6034=)
c.7056A= (p.Gly2352=)
n.5369A=
c.1314A=
c.394A= (n.394A=)
c.186A= (p.Gly62=)
c.4551A= (n.4551A=)
c.5085A= (p.Gly1695=)
n.18115A=
c.18099A= (p.Gly6033=)
c.18021A= (p.Gly6007=)
c.15405A= (p.Gly5135=)
c.18123A= (p.Gly6041=)
c.18120A= (p.Gly6040=)
c.18042A= (p.Gly6014=)
c.18027A= (p.Gly6009=)
c.17943A= (p.Gly5981=)
c.11241A= (p.Gly3747=)
c.11220A= (p.Gly3740=)
n.18118A=
5g.90985472A>CCA445441294ADGRV1c.18102A>C (p.Gly6034=)
c.7056A>C (p.Gly2352=)
n.5369A>C
c.1314A>C
c.394A>C (n.394A>C)
c.186A>C (p.Gly62=)
c.4551A>C (n.4551A>C)
c.5085A>C (p.Gly1695=)
n.18115A>C
c.18099A>C (p.Gly6033=)
c.18021A>C (p.Gly6007=)
c.15405A>C (p.Gly5135=)
c.18123A>C (p.Gly6041=)
c.18120A>C (p.Gly6040=)
c.18042A>C (p.Gly6014=)
c.18027A>C (p.Gly6009=)
c.17943A>C (p.Gly5981=)
c.11241A>C (p.Gly3747=)
c.11220A>C (p.Gly3740=)
n.18118A>C
5g.90985472A>GCA3342557ADGRV1c.18102A>G (p.Gly6034=)
c.7056A>G (p.Gly2352=)
n.5369A>G
c.1314A>G
c.394A>G (n.394A>G)
c.186A>G (p.Gly62=)
c.4551A>G (n.4551A>G)
c.5085A>G (p.Gly1695=)
n.18115A>G
c.18099A>G (p.Gly6033=)
c.18021A>G (p.Gly6007=)
c.15405A>G (p.Gly5135=)
c.18123A>G (p.Gly6041=)
c.18120A>G (p.Gly6040=)
c.18042A>G (p.Gly6014=)
c.18027A>G (p.Gly6009=)
c.17943A>G (p.Gly5981=)
c.11241A>G (p.Gly3747=)
c.11220A>G (p.Gly3740=)
n.18118A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90985472A>TCA445441298ADGRV1c.18102A>T (p.Gly6034=)
c.7056A>T (p.Gly2352=)
n.5369A>T
c.1314A>T
c.394A>T (n.394A>T)
c.186A>T (p.Gly62=)
c.4551A>T (n.4551A>T)
c.5085A>T (p.Gly1695=)
n.18115A>T
c.18099A>T (p.Gly6033=)
c.18021A>T (p.Gly6007=)
c.15405A>T (p.Gly5135=)
c.18123A>T (p.Gly6041=)
c.18120A>T (p.Gly6040=)
c.18042A>T (p.Gly6014=)
c.18027A>T (p.Gly6009=)
c.17943A>T (p.Gly5981=)
c.11241A>T (p.Gly3747=)
c.11220A>T (p.Gly3740=)
n.18118A>T
 gnomAD v4
5g.90985473A=CA1562990499ADGRV1c.18103A= (p.Ile6035=)
c.7057A= (p.Ile2353=)
n.5370A=
c.1315A=
c.395A= (n.395A=)
c.187A= (p.Ile63=)
c.4552A= (n.4552A=)
c.5086A= (p.Ile1696=)
n.18116A=
c.18100A= (p.Ile6034=)
c.18022A= (p.Ile6008=)
c.15406A= (p.Ile5136=)
c.18124A= (p.Ile6042=)
c.18121A= (p.Ile6041=)
c.18043A= (p.Ile6015=)
c.18028A= (p.Ile6010=)
c.17944A= (p.Ile5982=)
c.11242A= (p.Ile3748=)
c.11221A= (p.Ile3741=)
n.18119A=
5g.90985473A>CCA360429302ADGRV1c.18103A>C (p.Ile6035Leu)
c.7057A>C (p.Ile2353Leu)
n.5370A>C
c.1315A>C
c.395A>C (n.395A>C)
c.187A>C (p.Ile63Leu)
c.4552A>C (n.4552A>C)
c.5086A>C (p.Ile1696Leu)
n.18116A>C
c.18100A>C (p.Ile6034Leu)
c.18022A>C (p.Ile6008Leu)
c.15406A>C (p.Ile5136Leu)
c.18124A>C (p.Ile6042Leu)
c.18121A>C (p.Ile6041Leu)
c.18043A>C (p.Ile6015Leu)
c.18028A>C (p.Ile6010Leu)
c.17944A>C (p.Ile5982Leu)
c.11242A>C (p.Ile3748Leu)
c.11221A>C (p.Ile3741Leu)
n.18119A>C
5g.90985473A>GCA360429303ADGRV1c.18103A>G (p.Ile6035Val)
c.7057A>G (p.Ile2353Val)
n.5370A>G
c.1315A>G
c.395A>G (n.395A>G)
c.187A>G (p.Ile63Val)
c.4552A>G (n.4552A>G)
c.5086A>G (p.Ile1696Val)
n.18116A>G
c.18100A>G (p.Ile6034Val)
c.18022A>G (p.Ile6008Val)
c.15406A>G (p.Ile5136Val)
c.18124A>G (p.Ile6042Val)
c.18121A>G (p.Ile6041Val)
c.18043A>G (p.Ile6015Val)
c.18028A>G (p.Ile6010Val)
c.17944A>G (p.Ile5982Val)
c.11242A>G (p.Ile3748Val)
c.11221A>G (p.Ile3741Val)
n.18119A>G
 dbSNP
5g.90985473A>TCA360429304ADGRV1c.18103A>T (p.Ile6035Phe)
c.7057A>T (p.Ile2353Phe)
n.5370A>T
c.1315A>T
c.395A>T (n.395A>T)
c.187A>T (p.Ile63Phe)
c.4552A>T (n.4552A>T)
c.5086A>T (p.Ile1696Phe)
n.18116A>T
c.18100A>T (p.Ile6034Phe)
c.18022A>T (p.Ile6008Phe)
c.15406A>T (p.Ile5136Phe)
c.18124A>T (p.Ile6042Phe)
c.18121A>T (p.Ile6041Phe)
c.18043A>T (p.Ile6015Phe)
c.18028A>T (p.Ile6010Phe)
c.17944A>T (p.Ile5982Phe)
c.11242A>T (p.Ile3748Phe)
c.11221A>T (p.Ile3741Phe)
n.18119A>T
5g.90985474T>ACA360429305ADGRV1c.18104T>A (p.Ile6035Asn)
c.7058T>A (p.Ile2353Asn)
n.5371T>A
c.1316T>A
c.396T>A (n.396T>A)
c.188T>A (p.Ile63Asn)
c.4553T>A (n.4553T>A)
c.5087T>A (p.Ile1696Asn)
n.18117T>A
c.18101T>A (p.Ile6034Asn)
c.18023T>A (p.Ile6008Asn)
c.15407T>A (p.Ile5136Asn)
c.18125T>A (p.Ile6042Asn)
c.18122T>A (p.Ile6041Asn)
c.18044T>A (p.Ile6015Asn)
c.18029T>A (p.Ile6010Asn)
c.17945T>A (p.Ile5982Asn)
c.11243T>A (p.Ile3748Asn)
c.11222T>A (p.Ile3741Asn)
n.18120T>A
5g.90985474T>CCA360429307ADGRV1c.18104T>C (p.Ile6035Thr)
c.7058T>C (p.Ile2353Thr)
n.5371T>C
c.1316T>C
c.396T>C (n.396T>C)
c.188T>C (p.Ile63Thr)
c.4553T>C (n.4553T>C)
c.5087T>C (p.Ile1696Thr)
n.18117T>C
c.18101T>C (p.Ile6034Thr)
c.18023T>C (p.Ile6008Thr)
c.15407T>C (p.Ile5136Thr)
c.18125T>C (p.Ile6042Thr)
c.18122T>C (p.Ile6041Thr)
c.18044T>C (p.Ile6015Thr)
c.18029T>C (p.Ile6010Thr)
c.17945T>C (p.Ile5982Thr)
c.11243T>C (p.Ile3748Thr)
c.11222T>C (p.Ile3741Thr)
n.18120T>C
5g.90985474T>GCA360429306ADGRV1c.18104T>G (p.Ile6035Ser)
c.7058T>G (p.Ile2353Ser)
n.5371T>G
c.1316T>G
c.396T>G (n.396T>G)
c.188T>G (p.Ile63Ser)
c.4553T>G (n.4553T>G)
c.5087T>G (p.Ile1696Ser)
n.18117T>G
c.18101T>G (p.Ile6034Ser)
c.18023T>G (p.Ile6008Ser)
c.15407T>G (p.Ile5136Ser)
c.18125T>G (p.Ile6042Ser)
c.18122T>G (p.Ile6041Ser)
c.18044T>G (p.Ile6015Ser)
c.18029T>G (p.Ile6010Ser)
c.17945T>G (p.Ile5982Ser)
c.11243T>G (p.Ile3748Ser)
c.11222T>G (p.Ile3741Ser)
n.18120T>G
5g.90985474_90985486delinsTCTATCATCAGAGCA1562990502ADGRV1c.18104_18116delinsTCTATCATCAGAG (p.Ile6035=)
c.7058_7070delinsTCTATCATCAGAG (p.Ile2353=)
n.5371_5383delinsTCTATCATCAGAG
c.1316_1328delinsTCTATCATCAGAG
c.396_408delinsTCTATCATCAGAG (n.396_408delinsTCTATCATCAGAG)
c.188_200delinsTCTATCATCAGAG (p.Ile63=)
c.4553_4565delinsTCTATCATCAGAG (n.4553_4565delinsTCTATCATCAGAG)
c.5087_5099delinsTCTATCATCAGAG (p.Ile1696=)
n.18117_18129delinsTCTATCATCAGAG
c.18101_18113delinsTCTATCATCAGAG (p.Ile6034=)
c.18023_18035delinsTCTATCATCAGAG (p.Ile6008=)
c.15407_15419delinsTCTATCATCAGAG (p.Ile5136=)
c.18125_18137delinsTCTATCATCAGAG (p.Ile6042=)
c.18122_18134delinsTCTATCATCAGAG (p.Ile6041=)
c.18044_18056delinsTCTATCATCAGAG (p.Ile6015=)
c.18029_18041delinsTCTATCATCAGAG (p.Ile6010=)
c.17945_17957delinsTCTATCATCAGAG (p.Ile5982=)
c.11243_11255delinsTCTATCATCAGAG (p.Ile3748=)
c.11222_11234delinsTCTATCATCAGAG (p.Ile3741=)
n.18120_18132delinsTCTATCATCAGAG
5g.90985475C>ACA445441305ADGRV1c.18105C>A (p.Ile6035=)
c.7059C>A (p.Ile2353=)
n.5372C>A
c.1317C>A
c.397C>A (n.397C>A)
c.189C>A (p.Ile63=)
c.4554C>A (n.4554C>A)
c.5088C>A (p.Ile1696=)
n.18118C>A
c.18102C>A (p.Ile6034=)
c.18024C>A (p.Ile6008=)
c.15408C>A (p.Ile5136=)
c.18126C>A (p.Ile6042=)
c.18123C>A (p.Ile6041=)
c.18045C>A (p.Ile6015=)
c.18030C>A (p.Ile6010=)
c.17946C>A (p.Ile5982=)
c.11244C>A (p.Ile3748=)
c.11223C>A (p.Ile3741=)
n.18121C>A
5g.90985475C=CA1562990504ADGRV1c.18105C= (p.Ile6035=)
c.7059C= (p.Ile2353=)
n.5372C=
c.1317C=
c.397C= (n.397C=)
c.189C= (p.Ile63=)
c.4554C= (n.4554C=)
c.5088C= (p.Ile1696=)
n.18118C=
c.18102C= (p.Ile6034=)
c.18024C= (p.Ile6008=)
c.15408C= (p.Ile5136=)
c.18126C= (p.Ile6042=)
c.18123C= (p.Ile6041=)
c.18045C= (p.Ile6015=)
c.18030C= (p.Ile6010=)
c.17946C= (p.Ile5982=)
c.11244C= (p.Ile3748=)
c.11223C= (p.Ile3741=)
n.18121C=
5g.90985475C>GCA360429308ADGRV1c.18105C>G (p.Ile6035Met)
c.7059C>G (p.Ile2353Met)
n.5372C>G
c.1317C>G
c.397C>G (n.397C>G)
c.189C>G (p.Ile63Met)
c.4554C>G (n.4554C>G)
c.5088C>G (p.Ile1696Met)
n.18118C>G
c.18102C>G (p.Ile6034Met)
c.18024C>G (p.Ile6008Met)
c.15408C>G (p.Ile5136Met)
c.18126C>G (p.Ile6042Met)
c.18123C>G (p.Ile6041Met)
c.18045C>G (p.Ile6015Met)
c.18030C>G (p.Ile6010Met)
c.17946C>G (p.Ile5982Met)
c.11244C>G (p.Ile3748Met)
c.11223C>G (p.Ile3741Met)
n.18121C>G
5g.90985475C>TCA445441307ADGRV1c.18105C>T (p.Ile6035=)
c.7059C>T (p.Ile2353=)
n.5372C>T
c.1317C>T
c.397C>T (n.397C>T)
c.189C>T (p.Ile63=)
c.4554C>T (n.4554C>T)
c.5088C>T (p.Ile1696=)
n.18118C>T
c.18102C>T (p.Ile6034=)
c.18024C>T (p.Ile6008=)
c.15408C>T (p.Ile5136=)
c.18126C>T (p.Ile6042=)
c.18123C>T (p.Ile6041=)
c.18045C>T (p.Ile6015=)
c.18030C>T (p.Ile6010=)
c.17946C>T (p.Ile5982=)
c.11244C>T (p.Ile3748=)
c.11223C>T (p.Ile3741=)
n.18121C>T
 dbSNP gnomAD v4
5g.90985476_90985487delCA561217914ADGRV1c.18106_18117del (p.Tyr6036_Ser6039del)
c.7060_7071del (p.Tyr2354_Ser2357del)
n.5373_5384del
c.1318_1329del
c.398_409del (n.398_409del)
c.190_201del (p.Tyr64_Ser67del)
c.4555_4566del (n.4555_4566del)
c.5089_5100del (p.Tyr1697_Ser1700del)
n.18119_18130del
c.18103_18114del (p.Tyr6035_Ser6038del)
c.18025_18036del (p.Tyr6009_Ser6012del)
c.15409_15420del (p.Tyr5137_Ser5140del)
c.18127_18138del (p.Tyr6043_Ser6046del)
c.18124_18135del (p.Tyr6042_Ser6045del)
c.18046_18057del (p.Tyr6016_Ser6019del)
c.18031_18042del (p.Tyr6011_Ser6014del)
c.17947_17958del (p.Tyr5983_Ser5986del)
c.11245_11256del (p.Tyr3749_Ser3752del)
c.11224_11235del (p.Tyr3742_Ser3745del)
n.18122_18133del
 dbSNP gnomAD v2 gnomAD v4
5g.90985476T>ACA360429309ADGRV1c.18106T>A (p.Tyr6036Asn)
c.7060T>A (p.Tyr2354Asn)
n.5373T>A
c.1318T>A
c.398T>A (n.398T>A)
c.190T>A (p.Tyr64Asn)
c.4555T>A (n.4555T>A)
c.5089T>A (p.Tyr1697Asn)
n.18119T>A
c.18103T>A (p.Tyr6035Asn)
c.18025T>A (p.Tyr6009Asn)
c.15409T>A (p.Tyr5137Asn)
c.18127T>A (p.Tyr6043Asn)
c.18124T>A (p.Tyr6042Asn)
c.18046T>A (p.Tyr6016Asn)
c.18031T>A (p.Tyr6011Asn)
c.17947T>A (p.Tyr5983Asn)
c.11245T>A (p.Tyr3749Asn)
c.11224T>A (p.Tyr3742Asn)
n.18122T>A
5g.90985476T>CCA360429310ADGRV1c.18106T>C (p.Tyr6036His)
c.7060T>C (p.Tyr2354His)
n.5373T>C
c.1318T>C
c.398T>C (n.398T>C)
c.190T>C (p.Tyr64His)
c.4555T>C (n.4555T>C)
c.5089T>C (p.Tyr1697His)
n.18119T>C
c.18103T>C (p.Tyr6035His)
c.18025T>C (p.Tyr6009His)
c.15409T>C (p.Tyr5137His)
c.18127T>C (p.Tyr6043His)
c.18124T>C (p.Tyr6042His)
c.18046T>C (p.Tyr6016His)
c.18031T>C (p.Tyr6011His)
c.17947T>C (p.Tyr5983His)
c.11245T>C (p.Tyr3749His)
c.11224T>C (p.Tyr3742His)
n.18122T>C
5g.90985476T>GCA360429311ADGRV1c.18106T>G (p.Tyr6036Asp)
c.7060T>G (p.Tyr2354Asp)
n.5373T>G
c.1318T>G
c.398T>G (n.398T>G)
c.190T>G (p.Tyr64Asp)
c.4555T>G (n.4555T>G)
c.5089T>G (p.Tyr1697Asp)
n.18119T>G
c.18103T>G (p.Tyr6035Asp)
c.18025T>G (p.Tyr6009Asp)
c.15409T>G (p.Tyr5137Asp)
c.18127T>G (p.Tyr6043Asp)
c.18124T>G (p.Tyr6042Asp)
c.18046T>G (p.Tyr6016Asp)
c.18031T>G (p.Tyr6011Asp)
c.17947T>G (p.Tyr5983Asp)
c.11245T>G (p.Tyr3749Asp)
c.11224T>G (p.Tyr3742Asp)
n.18122T>G
5g.90985477A=CA1562990508ADGRV1c.18107A= (p.Tyr6036=)
c.7061A= (p.Tyr2354=)
n.5374A=
c.1319A=
c.399A= (n.399A=)
c.191A= (p.Tyr64=)
c.4556A= (n.4556A=)
c.5090A= (p.Tyr1697=)
n.18120A=
c.18104A= (p.Tyr6035=)
c.18026A= (p.Tyr6009=)
c.15410A= (p.Tyr5137=)
c.18128A= (p.Tyr6043=)
c.18125A= (p.Tyr6042=)
c.18047A= (p.Tyr6016=)
c.18032A= (p.Tyr6011=)
c.17948A= (p.Tyr5983=)
c.11246A= (p.Tyr3749=)
c.11225A= (p.Tyr3742=)
n.18123A=
5g.90985477A>CCA360429312ADGRV1c.18107A>C (p.Tyr6036Ser)
c.7061A>C (p.Tyr2354Ser)
n.5374A>C
c.1319A>C
c.399A>C (n.399A>C)
c.191A>C (p.Tyr64Ser)
c.4556A>C (n.4556A>C)
c.5090A>C (p.Tyr1697Ser)
n.18120A>C
c.18104A>C (p.Tyr6035Ser)
c.18026A>C (p.Tyr6009Ser)
c.15410A>C (p.Tyr5137Ser)
c.18128A>C (p.Tyr6043Ser)
c.18125A>C (p.Tyr6042Ser)
c.18047A>C (p.Tyr6016Ser)
c.18032A>C (p.Tyr6011Ser)
c.17948A>C (p.Tyr5983Ser)
c.11246A>C (p.Tyr3749Ser)
c.11225A>C (p.Tyr3742Ser)
n.18123A>C
5g.90985477A>GCA360429314ADGRV1c.18107A>G (p.Tyr6036Cys)
c.7061A>G (p.Tyr2354Cys)
n.5374A>G
c.1319A>G
c.399A>G (n.399A>G)
c.191A>G (p.Tyr64Cys)
c.4556A>G (n.4556A>G)
c.5090A>G (p.Tyr1697Cys)
n.18120A>G
c.18104A>G (p.Tyr6035Cys)
c.18026A>G (p.Tyr6009Cys)
c.15410A>G (p.Tyr5137Cys)
c.18128A>G (p.Tyr6043Cys)
c.18125A>G (p.Tyr6042Cys)
c.18047A>G (p.Tyr6016Cys)
c.18032A>G (p.Tyr6011Cys)
c.17948A>G (p.Tyr5983Cys)
c.11246A>G (p.Tyr3749Cys)
c.11225A>G (p.Tyr3742Cys)
n.18123A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90985477A>TCA360429313ADGRV1c.18107A>T (p.Tyr6036Phe)
c.7061A>T (p.Tyr2354Phe)
n.5374A>T
c.1319A>T
c.399A>T (n.399A>T)
c.191A>T (p.Tyr64Phe)
c.4556A>T (n.4556A>T)
c.5090A>T (p.Tyr1697Phe)
n.18120A>T
c.18104A>T (p.Tyr6035Phe)
c.18026A>T (p.Tyr6009Phe)
c.15410A>T (p.Tyr5137Phe)
c.18128A>T (p.Tyr6043Phe)
c.18125A>T (p.Tyr6042Phe)
c.18047A>T (p.Tyr6016Phe)
c.18032A>T (p.Tyr6011Phe)
c.17948A>T (p.Tyr5983Phe)
c.11246A>T (p.Tyr3749Phe)
c.11225A>T (p.Tyr3742Phe)
n.18123A>T
5g.90985478T>ACA360429315ADGRV1c.18108T>A (p.Tyr6036Ter)
c.7062T>A (p.Tyr2354Ter)
n.5375T>A
c.1320T>A
c.400T>A (n.400T>A)
c.192T>A (p.Tyr64Ter)
c.4557T>A (n.4557T>A)
c.5091T>A (p.Tyr1697Ter)
n.18121T>A
c.18105T>A (p.Tyr6035Ter)
c.18027T>A (p.Tyr6009Ter)
c.15411T>A (p.Tyr5137Ter)
c.18129T>A (p.Tyr6043Ter)
c.18126T>A (p.Tyr6042Ter)
c.18048T>A (p.Tyr6016Ter)
c.18033T>A (p.Tyr6011Ter)
c.17949T>A (p.Tyr5983Ter)
c.11247T>A (p.Tyr3749Ter)
c.11226T>A (p.Tyr3742Ter)
n.18124T>A
5g.90985478T>CCA445441315ADGRV1c.18108T>C (p.Tyr6036=)
c.7062T>C (p.Tyr2354=)
n.5375T>C
c.1320T>C
c.400T>C (n.400T>C)
c.192T>C (p.Tyr64=)
c.4557T>C (n.4557T>C)
c.5091T>C (p.Tyr1697=)
n.18121T>C
c.18105T>C (p.Tyr6035=)
c.18027T>C (p.Tyr6009=)
c.15411T>C (p.Tyr5137=)
c.18129T>C (p.Tyr6043=)
c.18126T>C (p.Tyr6042=)
c.18048T>C (p.Tyr6016=)
c.18033T>C (p.Tyr6011=)
c.17949T>C (p.Tyr5983=)
c.11247T>C (p.Tyr3749=)
c.11226T>C (p.Tyr3742=)
n.18124T>C
5g.90985478T>GCA360429316ADGRV1c.18108T>G (p.Tyr6036Ter)
c.7062T>G (p.Tyr2354Ter)
n.5375T>G
c.1320T>G
c.400T>G (n.400T>G)
c.192T>G (p.Tyr64Ter)
c.4557T>G (n.4557T>G)
c.5091T>G (p.Tyr1697Ter)
n.18121T>G
c.18105T>G (p.Tyr6035Ter)
c.18027T>G (p.Tyr6009Ter)
c.15411T>G (p.Tyr5137Ter)
c.18129T>G (p.Tyr6043Ter)
c.18126T>G (p.Tyr6042Ter)
c.18048T>G (p.Tyr6016Ter)
c.18033T>G (p.Tyr6011Ter)
c.17949T>G (p.Tyr5983Ter)
c.11247T>G (p.Tyr3749Ter)
c.11226T>G (p.Tyr3742Ter)
n.18124T>G
5g.90985479C>ACA360429317ADGRV1c.18109C>A (p.His6037Asn)
c.7063C>A (p.His2355Asn)
n.5376C>A
c.1321C>A
c.401C>A (n.401C>A)
c.193C>A (p.His65Asn)
c.4558C>A (n.4558C>A)
c.5092C>A (p.His1698Asn)
n.18122C>A
c.18106C>A (p.His6036Asn)
c.18028C>A (p.His6010Asn)
c.15412C>A (p.His5138Asn)
c.18130C>A (p.His6044Asn)
c.18127C>A (p.His6043Asn)
c.18049C>A (p.His6017Asn)
c.18034C>A (p.His6012Asn)
c.17950C>A (p.His5984Asn)
c.11248C>A (p.His3750Asn)
c.11227C>A (p.His3743Asn)
n.18125C>A
5g.90985479C>GCA360429318ADGRV1c.18109C>G (p.His6037Asp)
c.7063C>G (p.His2355Asp)
n.5376C>G
c.1321C>G
c.401C>G (n.401C>G)
c.193C>G (p.His65Asp)
c.4558C>G (n.4558C>G)
c.5092C>G (p.His1698Asp)
n.18122C>G
c.18106C>G (p.His6036Asp)
c.18028C>G (p.His6010Asp)
c.15412C>G (p.His5138Asp)
c.18130C>G (p.His6044Asp)
c.18127C>G (p.His6043Asp)
c.18049C>G (p.His6017Asp)
c.18034C>G (p.His6012Asp)
c.17950C>G (p.His5984Asp)
c.11248C>G (p.His3750Asp)
c.11227C>G (p.His3743Asp)
n.18125C>G
5g.90985479C>TCA360429319ADGRV1c.18109C>T (p.His6037Tyr)
c.7063C>T (p.His2355Tyr)
n.5376C>T
c.1321C>T
c.401C>T (n.401C>T)
c.193C>T (p.His65Tyr)
c.4558C>T (n.4558C>T)
c.5092C>T (p.His1698Tyr)
n.18122C>T
c.18106C>T (p.His6036Tyr)
c.18028C>T (p.His6010Tyr)
c.15412C>T (p.His5138Tyr)
c.18130C>T (p.His6044Tyr)
c.18127C>T (p.His6043Tyr)
c.18049C>T (p.His6017Tyr)
c.18034C>T (p.His6012Tyr)
c.17950C>T (p.His5984Tyr)
c.11248C>T (p.His3750Tyr)
c.11227C>T (p.His3743Tyr)
n.18125C>T
5g.90985480A=CA1562990514ADGRV1c.18110A= (p.His6037=)
c.7064A= (p.His2355=)
n.5377A=
c.1322A=
c.402A= (n.402A=)
c.194A= (p.His65=)
c.4559A= (n.4559A=)
c.5093A= (p.His1698=)
n.18123A=
c.18107A= (p.His6036=)
c.18029A= (p.His6010=)
c.15413A= (p.His5138=)
c.18131A= (p.His6044=)
c.18128A= (p.His6043=)
c.18050A= (p.His6017=)
c.18035A= (p.His6012=)
c.17951A= (p.His5984=)
c.11249A= (p.His3750=)
c.11228A= (p.His3743=)
n.18126A=
5g.90985480A>CCA360429320ADGRV1c.18110A>C (p.His6037Pro)
c.7064A>C (p.His2355Pro)
n.5377A>C
c.1322A>C
c.402A>C (n.402A>C)
c.194A>C (p.His65Pro)
c.4559A>C (n.4559A>C)
c.5093A>C (p.His1698Pro)
n.18123A>C
c.18107A>C (p.His6036Pro)
c.18029A>C (p.His6010Pro)
c.15413A>C (p.His5138Pro)
c.18131A>C (p.His6044Pro)
c.18128A>C (p.His6043Pro)
c.18050A>C (p.His6017Pro)
c.18035A>C (p.His6012Pro)
c.17951A>C (p.His5984Pro)
c.11249A>C (p.His3750Pro)
c.11228A>C (p.His3743Pro)
n.18126A>C
5g.90985480A>GCA360429321ADGRV1c.18110A>G (p.His6037Arg)
c.7064A>G (p.His2355Arg)
n.5377A>G
c.1322A>G
c.402A>G (n.402A>G)
c.194A>G (p.His65Arg)
c.4559A>G (n.4559A>G)
c.5093A>G (p.His1698Arg)
n.18123A>G
c.18107A>G (p.His6036Arg)
c.18029A>G (p.His6010Arg)
c.15413A>G (p.His5138Arg)
c.18131A>G (p.His6044Arg)
c.18128A>G (p.His6043Arg)
c.18050A>G (p.His6017Arg)
c.18035A>G (p.His6012Arg)
c.17951A>G (p.His5984Arg)
c.11249A>G (p.His3750Arg)
c.11228A>G (p.His3743Arg)
n.18126A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90985480A>TCA360429322ADGRV1c.18110A>T (p.His6037Leu)
c.7064A>T (p.His2355Leu)
n.5377A>T
c.1322A>T
c.402A>T (n.402A>T)
c.194A>T (p.His65Leu)
c.4559A>T (n.4559A>T)
c.5093A>T (p.His1698Leu)
n.18123A>T
c.18107A>T (p.His6036Leu)
c.18029A>T (p.His6010Leu)
c.15413A>T (p.His5138Leu)
c.18131A>T (p.His6044Leu)
c.18128A>T (p.His6043Leu)
c.18050A>T (p.His6017Leu)
c.18035A>T (p.His6012Leu)
c.17951A>T (p.His5984Leu)
c.11249A>T (p.His3750Leu)
c.11228A>T (p.His3743Leu)
n.18126A>T
 dbSNP
5g.90985481T>ACA360429323ADGRV1c.18111T>A (p.His6037Gln)
c.7065T>A (p.His2355Gln)
n.5378T>A
c.1323T>A
c.403T>A (n.403T>A)
c.195T>A (p.His65Gln)
c.4560T>A (n.4560T>A)
c.5094T>A (p.His1698Gln)
n.18124T>A
c.18108T>A (p.His6036Gln)
c.18030T>A (p.His6010Gln)
c.15414T>A (p.His5138Gln)
c.18132T>A (p.His6044Gln)
c.18129T>A (p.His6043Gln)
c.18051T>A (p.His6017Gln)
c.18036T>A (p.His6012Gln)
c.17952T>A (p.His5984Gln)
c.11250T>A (p.His3750Gln)
c.11229T>A (p.His3743Gln)
n.18127T>A
5g.90985481T>CCA445441325ADGRV1c.18111T>C (p.His6037=)
c.7065T>C (p.His2355=)
n.5378T>C
c.1323T>C
c.403T>C (n.403T>C)
c.195T>C (p.His65=)
c.4560T>C (n.4560T>C)
c.5094T>C (p.His1698=)
n.18124T>C
c.18108T>C (p.His6036=)
c.18030T>C (p.His6010=)
c.15414T>C (p.His5138=)
c.18132T>C (p.His6044=)
c.18129T>C (p.His6043=)
c.18051T>C (p.His6017=)
c.18036T>C (p.His6012=)
c.17952T>C (p.His5984=)
c.11250T>C (p.His3750=)
c.11229T>C (p.His3743=)
n.18127T>C
5g.90985481T>GCA360429324ADGRV1c.18111T>G (p.His6037Gln)
c.7065T>G (p.His2355Gln)
n.5378T>G
c.1323T>G
c.403T>G (n.403T>G)
c.195T>G (p.His65Gln)
c.4560T>G (n.4560T>G)
c.5094T>G (p.His1698Gln)
n.18124T>G
c.18108T>G (p.His6036Gln)
c.18030T>G (p.His6010Gln)
c.15414T>G (p.His5138Gln)
c.18132T>G (p.His6044Gln)
c.18129T>G (p.His6043Gln)
c.18051T>G (p.His6017Gln)
c.18036T>G (p.His6012Gln)
c.17952T>G (p.His5984Gln)
c.11250T>G (p.His3750Gln)
c.11229T>G (p.His3743Gln)
n.18127T>G
5g.90985482C>ACA360429327ADGRV1c.18112C>A (p.Gln6038Lys)
c.7066C>A (p.Gln2356Lys)
n.5379C>A
c.1324C>A
c.404C>A (n.404C>A)
c.196C>A (p.Gln66Lys)
c.4561C>A (n.4561C>A)
c.5095C>A (p.Gln1699Lys)
n.18125C>A
c.18109C>A (p.Gln6037Lys)
c.18031C>A (p.Gln6011Lys)
c.15415C>A (p.Gln5139Lys)
c.18133C>A (p.Gln6045Lys)
c.18130C>A (p.Gln6044Lys)
c.18052C>A (p.Gln6018Lys)
c.18037C>A (p.Gln6013Lys)
c.17953C>A (p.Gln5985Lys)
c.11251C>A (p.Gln3751Lys)
c.11230C>A (p.Gln3744Lys)
n.18128C>A
5g.90985482C>GCA360429326ADGRV1c.18112C>G (p.Gln6038Glu)
c.7066C>G (p.Gln2356Glu)
n.5379C>G
c.1324C>G
c.404C>G (n.404C>G)
c.196C>G (p.Gln66Glu)
c.4561C>G (n.4561C>G)
c.5095C>G (p.Gln1699Glu)
n.18125C>G
c.18109C>G (p.Gln6037Glu)
c.18031C>G (p.Gln6011Glu)
c.15415C>G (p.Gln5139Glu)
c.18133C>G (p.Gln6045Glu)
c.18130C>G (p.Gln6044Glu)
c.18052C>G (p.Gln6018Glu)
c.18037C>G (p.Gln6013Glu)
c.17953C>G (p.Gln5985Glu)
c.11251C>G (p.Gln3751Glu)
c.11230C>G (p.Gln3744Glu)
n.18128C>G
5g.90985482C>TCA360429325ADGRV1c.18112C>T (p.Gln6038Ter)
c.7066C>T (p.Gln2356Ter)
n.5379C>T
c.1324C>T
c.404C>T (n.404C>T)
c.196C>T (p.Gln66Ter)
c.4561C>T (n.4561C>T)
c.5095C>T (p.Gln1699Ter)
n.18125C>T
c.18109C>T (p.Gln6037Ter)
c.18031C>T (p.Gln6011Ter)
c.15415C>T (p.Gln5139Ter)
c.18133C>T (p.Gln6045Ter)
c.18130C>T (p.Gln6044Ter)
c.18052C>T (p.Gln6018Ter)
c.18037C>T (p.Gln6013Ter)
c.17953C>T (p.Gln5985Ter)
c.11251C>T (p.Gln3751Ter)
c.11230C>T (p.Gln3744Ter)
n.18128C>T
5g.90985483A=CA1562990517ADGRV1c.18113A= (p.Gln6038=)
c.7067A= (p.Gln2356=)
n.5380A=
c.1325A=
c.405A= (n.405A=)
c.197A= (p.Gln66=)
c.4562A= (n.4562A=)
c.5096A= (p.Gln1699=)
n.18126A=
c.18110A= (p.Gln6037=)
c.18032A= (p.Gln6011=)
c.15416A= (p.Gln5139=)
c.18134A= (p.Gln6045=)
c.18131A= (p.Gln6044=)
c.18053A= (p.Gln6018=)
c.18038A= (p.Gln6013=)
c.17954A= (p.Gln5985=)
c.11252A= (p.Gln3751=)
c.11231A= (p.Gln3744=)
n.18129A=
5g.90985483A>CCA122931041ADGRV1c.18113A>C (p.Gln6038Pro)
c.7067A>C (p.Gln2356Pro)
n.5380A>C
c.1325A>C
c.405A>C (n.405A>C)
c.197A>C (p.Gln66Pro)
c.4562A>C (n.4562A>C)
c.5096A>C (p.Gln1699Pro)
n.18126A>C
c.18110A>C (p.Gln6037Pro)
c.18032A>C (p.Gln6011Pro)
c.15416A>C (p.Gln5139Pro)
c.18134A>C (p.Gln6045Pro)
c.18131A>C (p.Gln6044Pro)
c.18053A>C (p.Gln6018Pro)
c.18038A>C (p.Gln6013Pro)
c.17954A>C (p.Gln5985Pro)
c.11252A>C (p.Gln3751Pro)
c.11231A>C (p.Gln3744Pro)
n.18129A>C
 dbSNP gnomAD v4
5g.90985483A>GCA360429328ADGRV1c.18113A>G (p.Gln6038Arg)
c.7067A>G (p.Gln2356Arg)
n.5380A>G
c.1325A>G
c.405A>G (n.405A>G)
c.197A>G (p.Gln66Arg)
c.4562A>G (n.4562A>G)
c.5096A>G (p.Gln1699Arg)
n.18126A>G
c.18110A>G (p.Gln6037Arg)
c.18032A>G (p.Gln6011Arg)
c.15416A>G (p.Gln5139Arg)
c.18134A>G (p.Gln6045Arg)
c.18131A>G (p.Gln6044Arg)
c.18053A>G (p.Gln6018Arg)
c.18038A>G (p.Gln6013Arg)
c.17954A>G (p.Gln5985Arg)
c.11252A>G (p.Gln3751Arg)
c.11231A>G (p.Gln3744Arg)
n.18129A>G
5g.90985483A>TCA360429329ADGRV1c.18113A>T (p.Gln6038Leu)
c.7067A>T (p.Gln2356Leu)
n.5380A>T
c.1325A>T
c.405A>T (n.405A>T)
c.197A>T (p.Gln66Leu)
c.4562A>T (n.4562A>T)
c.5096A>T (p.Gln1699Leu)
n.18126A>T
c.18110A>T (p.Gln6037Leu)
c.18032A>T (p.Gln6011Leu)
c.15416A>T (p.Gln5139Leu)
c.18134A>T (p.Gln6045Leu)
c.18131A>T (p.Gln6044Leu)
c.18053A>T (p.Gln6018Leu)
c.18038A>T (p.Gln6013Leu)
c.17954A>T (p.Gln5985Leu)
c.11252A>T (p.Gln3751Leu)
c.11231A>T (p.Gln3744Leu)
n.18129A>T
5g.90985484G>ACA445441340ADGRV1c.18114G>A (p.Gln6038=)
c.7068G>A (p.Gln2356=)
n.5381G>A
c.1326G>A
c.406G>A (n.406G>A)
c.198G>A (p.Gln66=)
c.4563G>A (n.4563G>A)
c.5097G>A (p.Gln1699=)
n.18127G>A
c.18111G>A (p.Gln6037=)
c.18033G>A (p.Gln6011=)
c.15417G>A (p.Gln5139=)
c.18135G>A (p.Gln6045=)
c.18132G>A (p.Gln6044=)
c.18054G>A (p.Gln6018=)
c.18039G>A (p.Gln6013=)
c.17955G>A (p.Gln5985=)
c.11253G>A (p.Gln3751=)
c.11232G>A (p.Gln3744=)
n.18130G>A
5g.90985484G>CCA360429330ADGRV1c.18114G>C (p.Gln6038His)
c.7068G>C (p.Gln2356His)
n.5381G>C
c.1326G>C
c.406G>C (n.406G>C)
c.198G>C (p.Gln66His)
c.4563G>C (n.4563G>C)
c.5097G>C (p.Gln1699His)
n.18127G>C
c.18111G>C (p.Gln6037His)
c.18033G>C (p.Gln6011His)
c.15417G>C (p.Gln5139His)
c.18135G>C (p.Gln6045His)
c.18132G>C (p.Gln6044His)
c.18054G>C (p.Gln6018His)
c.18039G>C (p.Gln6013His)
c.17955G>C (p.Gln5985His)
c.11253G>C (p.Gln3751His)
c.11232G>C (p.Gln3744His)
n.18130G>C
5g.90985484G>TCA360429331ADGRV1c.18114G>T (p.Gln6038His)
c.7068G>T (p.Gln2356His)
n.5381G>T
c.1326G>T
c.406G>T (n.406G>T)
c.198G>T (p.Gln66His)
c.4563G>T (n.4563G>T)
c.5097G>T (p.Gln1699His)
n.18127G>T
c.18111G>T (p.Gln6037His)
c.18033G>T (p.Gln6011His)
c.15417G>T (p.Gln5139His)
c.18135G>T (p.Gln6045His)
c.18132G>T (p.Gln6044His)
c.18054G>T (p.Gln6018His)
c.18039G>T (p.Gln6013His)
c.17955G>T (p.Gln5985His)
c.11253G>T (p.Gln3751His)
c.11232G>T (p.Gln3744His)
n.18130G>T
5g.90985485A>CCA360429332ADGRV1c.18115A>C (p.Ser6039Arg)
c.7069A>C (p.Ser2357Arg)
n.5382A>C
c.1327A>C
c.407A>C (n.407A>C)
c.199A>C (p.Ser67Arg)
c.4564A>C (n.4564A>C)
c.5098A>C (p.Ser1700Arg)
n.18128A>C
c.18112A>C (p.Ser6038Arg)
c.18034A>C (p.Ser6012Arg)
c.15418A>C (p.Ser5140Arg)
c.18136A>C (p.Ser6046Arg)
c.18133A>C (p.Ser6045Arg)
c.18055A>C (p.Ser6019Arg)
c.18040A>C (p.Ser6014Arg)
c.17956A>C (p.Ser5986Arg)
c.11254A>C (p.Ser3752Arg)
c.11233A>C (p.Ser3745Arg)
n.18131A>C
5g.90985485A>GCA360429333ADGRV1c.18115A>G (p.Ser6039Gly)
c.7069A>G (p.Ser2357Gly)
n.5382A>G
c.1327A>G
c.407A>G (n.407A>G)
c.199A>G (p.Ser67Gly)
c.4564A>G (n.4564A>G)
c.5098A>G (p.Ser1700Gly)
n.18128A>G
c.18112A>G (p.Ser6038Gly)
c.18034A>G (p.Ser6012Gly)
c.15418A>G (p.Ser5140Gly)
c.18136A>G (p.Ser6046Gly)
c.18133A>G (p.Ser6045Gly)
c.18055A>G (p.Ser6019Gly)
c.18040A>G (p.Ser6014Gly)
c.17956A>G (p.Ser5986Gly)
c.11254A>G (p.Ser3752Gly)
c.11233A>G (p.Ser3745Gly)
n.18131A>G
5g.90985485A>TCA360429334ADGRV1c.18115A>T (p.Ser6039Cys)
c.7069A>T (p.Ser2357Cys)
n.5382A>T
c.1327A>T
c.407A>T (n.407A>T)
c.199A>T (p.Ser67Cys)
c.4564A>T (n.4564A>T)
c.5098A>T (p.Ser1700Cys)
n.18128A>T
c.18112A>T (p.Ser6038Cys)
c.18034A>T (p.Ser6012Cys)
c.15418A>T (p.Ser5140Cys)
c.18136A>T (p.Ser6046Cys)
c.18133A>T (p.Ser6045Cys)
c.18055A>T (p.Ser6019Cys)
c.18040A>T (p.Ser6014Cys)
c.17956A>T (p.Ser5986Cys)
c.11254A>T (p.Ser3752Cys)
c.11233A>T (p.Ser3745Cys)
n.18131A>T
5g.90985485_90985486delinsAGCA1562990522ADGRV1c.18115_18116delinsAG (p.Ser6039=)
c.7069_7070delinsAG (p.Ser2357=)
n.5382_5383delinsAG
c.1327_1328delinsAG
c.407_408delinsAG (n.407_408delinsAG)
c.199_200delinsAG (p.Ser67=)
c.4564_4565delinsAG (n.4564_4565delinsAG)
c.5098_5099delinsAG (p.Ser1700=)
n.18128_18129delinsAG
c.18112_18113delinsAG (p.Ser6038=)
c.18034_18035delinsAG (p.Ser6012=)
c.15418_15419delinsAG (p.Ser5140=)
c.18136_18137delinsAG (p.Ser6046=)
c.18133_18134delinsAG (p.Ser6045=)
c.18055_18056delinsAG (p.Ser6019=)
c.18040_18041delinsAG (p.Ser6014=)
c.17956_17957delinsAG (p.Ser5986=)
c.11254_11255delinsAG (p.Ser3752=)
c.11233_11234delinsAG (p.Ser3745=)
n.18131_18132delinsAG
5g.90985486delCA1562990525ADGRV1c.18116del (p.Ser6039ThrfsTer?)
c.7070del (p.Ser2357ThrfsTer?)
n.5383del
c.1328del
c.408del (n.408del)
c.200del (p.Ser67ThrfsTer?)
c.4565del (n.4565del)
c.5099del (p.Ser1700ThrfsTer?)
n.18129del
c.18113del (p.Ser6038ThrfsTer?)
c.18035del (p.Ser6012ThrfsTer?)
c.15419del (p.Ser5140ThrfsTer?)
c.18137del (p.Ser6046ThrfsTer?)
c.18134del (p.Ser6045ThrfsTer?)
c.18056del (p.Ser6019ThrfsTer?)
c.18041del (p.Ser6014ThrfsTer?)
c.17957del (p.Ser5986ThrfsTer?)
c.11255del (p.Ser3752ThrfsTer?)
c.11234del (p.Ser3745ThrfsTer?)
n.18132del
 ClinVar dbSNP
5g.90985486G>ACA3342558ADGRV1c.18116G>A (p.Ser6039Asn)
c.7070G>A (p.Ser2357Asn)
n.5383G>A
c.1328G>A
c.408G>A (n.408G>A)
c.200G>A (p.Ser67Asn)
c.4565G>A (n.4565G>A)
c.5099G>A (p.Ser1700Asn)
n.18129G>A
c.18113G>A (p.Ser6038Asn)
c.18035G>A (p.Ser6012Asn)
c.15419G>A (p.Ser5140Asn)
c.18137G>A (p.Ser6046Asn)
c.18134G>A (p.Ser6045Asn)
c.18056G>A (p.Ser6019Asn)
c.18041G>A (p.Ser6014Asn)
c.17957G>A (p.Ser5986Asn)
c.11255G>A (p.Ser3752Asn)
c.11234G>A (p.Ser3745Asn)
n.18132G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985486G>CCA360429335ADGRV1c.18116G>C (p.Ser6039Thr)
c.7070G>C (p.Ser2357Thr)
n.5383G>C
c.1328G>C
c.408G>C (n.408G>C)
c.200G>C (p.Ser67Thr)
c.4565G>C (n.4565G>C)
c.5099G>C (p.Ser1700Thr)
n.18129G>C
c.18113G>C (p.Ser6038Thr)
c.18035G>C (p.Ser6012Thr)
c.15419G>C (p.Ser5140Thr)
c.18137G>C (p.Ser6046Thr)
c.18134G>C (p.Ser6045Thr)
c.18056G>C (p.Ser6019Thr)
c.18041G>C (p.Ser6014Thr)
c.17957G>C (p.Ser5986Thr)
c.11255G>C (p.Ser3752Thr)
c.11234G>C (p.Ser3745Thr)
n.18132G>C
5g.90985486G=CA1562990526ADGRV1c.18116G= (p.Ser6039=)
c.7070G= (p.Ser2357=)
n.5383G=
c.1328G=
c.408G= (n.408G=)
c.200G= (p.Ser67=)
c.4565G= (n.4565G=)
c.5099G= (p.Ser1700=)
n.18129G=
c.18113G= (p.Ser6038=)
c.18035G= (p.Ser6012=)
c.15419G= (p.Ser5140=)
c.18137G= (p.Ser6046=)
c.18134G= (p.Ser6045=)
c.18056G= (p.Ser6019=)
c.18041G= (p.Ser6014=)
c.17957G= (p.Ser5986=)
c.11255G= (p.Ser3752=)
c.11234G= (p.Ser3745=)
n.18132G=
5g.90985486G>TCA360429336ADGRV1c.18116G>T (p.Ser6039Ile)
c.7070G>T (p.Ser2357Ile)
n.5383G>T
c.1328G>T
c.408G>T (n.408G>T)
c.200G>T (p.Ser67Ile)
c.4565G>T (n.4565G>T)
c.5099G>T (p.Ser1700Ile)
n.18129G>T
c.18113G>T (p.Ser6038Ile)
c.18035G>T (p.Ser6012Ile)
c.15419G>T (p.Ser5140Ile)
c.18137G>T (p.Ser6046Ile)
c.18134G>T (p.Ser6045Ile)
c.18056G>T (p.Ser6019Ile)
c.18041G>T (p.Ser6014Ile)
c.17957G>T (p.Ser5986Ile)
c.11255G>T (p.Ser3752Ile)
c.11234G>T (p.Ser3745Ile)
n.18132G>T
5g.90985487C>ACA360429337ADGRV1c.18117C>A (p.Ser6039Arg)
c.7071C>A (p.Ser2357Arg)
n.5384C>A
c.1329C>A
c.409C>A (n.409C>A)
c.201C>A (p.Ser67Arg)
c.4566C>A (n.4566C>A)
c.5100C>A (p.Ser1700Arg)
n.18130C>A
c.18114C>A (p.Ser6038Arg)
c.18036C>A (p.Ser6012Arg)
c.15420C>A (p.Ser5140Arg)
c.18138C>A (p.Ser6046Arg)
c.18135C>A (p.Ser6045Arg)
c.18057C>A (p.Ser6019Arg)
c.18042C>A (p.Ser6014Arg)
c.17958C>A (p.Ser5986Arg)
c.11256C>A (p.Ser3752Arg)
c.11235C>A (p.Ser3745Arg)
n.18133C>A
 gnomAD v4
5g.90985487C>GCA360429338ADGRV1c.18117C>G (p.Ser6039Arg)
c.7071C>G (p.Ser2357Arg)
n.5384C>G
c.1329C>G
c.409C>G (n.409C>G)
c.201C>G (p.Ser67Arg)
c.4566C>G (n.4566C>G)
c.5100C>G (p.Ser1700Arg)
n.18130C>G
c.18114C>G (p.Ser6038Arg)
c.18036C>G (p.Ser6012Arg)
c.15420C>G (p.Ser5140Arg)
c.18138C>G (p.Ser6046Arg)
c.18135C>G (p.Ser6045Arg)
c.18057C>G (p.Ser6019Arg)
c.18042C>G (p.Ser6014Arg)
c.17958C>G (p.Ser5986Arg)
c.11256C>G (p.Ser3752Arg)
c.11235C>G (p.Ser3745Arg)
n.18133C>G
5g.90985487C>TCA445441348ADGRV1c.18117C>T (p.Ser6039=)
c.7071C>T (p.Ser2357=)
n.5384C>T
c.1329C>T
c.409C>T (n.409C>T)
c.201C>T (p.Ser67=)
c.4566C>T (n.4566C>T)
c.5100C>T (p.Ser1700=)
n.18130C>T
c.18114C>T (p.Ser6038=)
c.18036C>T (p.Ser6012=)
c.15420C>T (p.Ser5140=)
c.18138C>T (p.Ser6046=)
c.18135C>T (p.Ser6045=)
c.18057C>T (p.Ser6019=)
c.18042C>T (p.Ser6014=)
c.17958C>T (p.Ser5986=)
c.11256C>T (p.Ser3752=)
c.11235C>T (p.Ser3745=)
n.18133C>T
5g.90985488A>CCA360429341ADGRV1c.18118A>C (p.Met6040Leu)
c.7072A>C (p.Met2358Leu)
n.5385A>C
c.1330A>C
c.410A>C (n.410A>C)
c.202A>C (p.Met68Leu)
c.4567A>C (n.4567A>C)
c.5101A>C (p.Met1701Leu)
n.18131A>C
c.18115A>C (p.Met6039Leu)
c.18037A>C (p.Met6013Leu)
c.15421A>C (p.Met5141Leu)
c.18139A>C (p.Met6047Leu)
c.18136A>C (p.Met6046Leu)
c.18058A>C (p.Met6020Leu)
c.18043A>C (p.Met6015Leu)
c.17959A>C (p.Met5987Leu)
c.11257A>C (p.Met3753Leu)
c.11236A>C (p.Met3746Leu)
n.18134A>C
5g.90985488A>GCA360429339ADGRV1c.18118A>G (p.Met6040Val)
c.7072A>G (p.Met2358Val)
n.5385A>G
c.1330A>G
c.410A>G (n.410A>G)
c.202A>G (p.Met68Val)
c.4567A>G (n.4567A>G)
c.5101A>G (p.Met1701Val)
n.18131A>G
c.18115A>G (p.Met6039Val)
c.18037A>G (p.Met6013Val)
c.15421A>G (p.Met5141Val)
c.18139A>G (p.Met6047Val)
c.18136A>G (p.Met6046Val)
c.18058A>G (p.Met6020Val)
c.18043A>G (p.Met6015Val)
c.17959A>G (p.Met5987Val)
c.11257A>G (p.Met3753Val)
c.11236A>G (p.Met3746Val)
n.18134A>G
5g.90985488A>TCA360429340ADGRV1c.18118A>T (p.Met6040Leu)
c.7072A>T (p.Met2358Leu)
n.5385A>T
c.1330A>T
c.410A>T (n.410A>T)
c.202A>T (p.Met68Leu)
c.4567A>T (n.4567A>T)
c.5101A>T (p.Met1701Leu)
n.18131A>T
c.18115A>T (p.Met6039Leu)
c.18037A>T (p.Met6013Leu)
c.15421A>T (p.Met5141Leu)
c.18139A>T (p.Met6047Leu)
c.18136A>T (p.Met6046Leu)
c.18058A>T (p.Met6020Leu)
c.18043A>T (p.Met6015Leu)
c.17959A>T (p.Met5987Leu)
c.11257A>T (p.Met3753Leu)
c.11236A>T (p.Met3746Leu)
n.18134A>T
5g.90985489T>ACA360429342ADGRV1c.18119T>A (p.Met6040Lys)
c.7073T>A (p.Met2358Lys)
n.5386T>A
c.1331T>A
c.411T>A (n.411T>A)
c.203T>A (p.Met68Lys)
c.4568T>A (n.4568T>A)
c.5102T>A (p.Met1701Lys)
n.18132T>A
c.18116T>A (p.Met6039Lys)
c.18038T>A (p.Met6013Lys)
c.15422T>A (p.Met5141Lys)
c.18140T>A (p.Met6047Lys)
c.18137T>A (p.Met6046Lys)
c.18059T>A (p.Met6020Lys)
c.18044T>A (p.Met6015Lys)
c.17960T>A (p.Met5987Lys)
c.11258T>A (p.Met3753Lys)
c.11237T>A (p.Met3746Lys)
n.18135T>A
5g.90985489T>CCA360429343ADGRV1c.18119T>C (p.Met6040Thr)
c.7073T>C (p.Met2358Thr)
n.5386T>C
c.1331T>C
c.411T>C (n.411T>C)
c.203T>C (p.Met68Thr)
c.4568T>C (n.4568T>C)
c.5102T>C (p.Met1701Thr)
n.18132T>C
c.18116T>C (p.Met6039Thr)
c.18038T>C (p.Met6013Thr)
c.15422T>C (p.Met5141Thr)
c.18140T>C (p.Met6047Thr)
c.18137T>C (p.Met6046Thr)
c.18059T>C (p.Met6020Thr)
c.18044T>C (p.Met6015Thr)
c.17960T>C (p.Met5987Thr)
c.11258T>C (p.Met3753Thr)
c.11237T>C (p.Met3746Thr)
n.18135T>C
 gnomAD v4
5g.90985489T>GCA360429344ADGRV1c.18119T>G (p.Met6040Arg)
c.7073T>G (p.Met2358Arg)
n.5386T>G
c.1331T>G
c.411T>G (n.411T>G)
c.203T>G (p.Met68Arg)
c.4568T>G (n.4568T>G)
c.5102T>G (p.Met1701Arg)
n.18132T>G
c.18116T>G (p.Met6039Arg)
c.18038T>G (p.Met6013Arg)
c.15422T>G (p.Met5141Arg)
c.18140T>G (p.Met6047Arg)
c.18137T>G (p.Met6046Arg)
c.18059T>G (p.Met6020Arg)
c.18044T>G (p.Met6015Arg)
c.17960T>G (p.Met5987Arg)
c.11258T>G (p.Met3753Arg)
c.11237T>G (p.Met3746Arg)
n.18135T>G
5g.90985490G>ACA360429345ADGRV1c.18120G>A (p.Met6040Ile)
c.7074G>A (p.Met2358Ile)
n.5387G>A
c.1332G>A
c.412G>A (n.412G>A)
c.204G>A (p.Met68Ile)
c.4569G>A (n.4569G>A)
c.5103G>A (p.Met1701Ile)
n.18133G>A
c.18117G>A (p.Met6039Ile)
c.18039G>A (p.Met6013Ile)
c.15423G>A (p.Met5141Ile)
c.18141G>A (p.Met6047Ile)
c.18138G>A (p.Met6046Ile)
c.18060G>A (p.Met6020Ile)
c.18045G>A (p.Met6015Ile)
c.17961G>A (p.Met5987Ile)
c.11259G>A (p.Met3753Ile)
c.11238G>A (p.Met3746Ile)
n.18136G>A
5g.90985490G>CCA360429346ADGRV1c.18120G>C (p.Met6040Ile)
c.7074G>C (p.Met2358Ile)
n.5387G>C
c.1332G>C
c.412G>C (n.412G>C)
c.204G>C (p.Met68Ile)
c.4569G>C (n.4569G>C)
c.5103G>C (p.Met1701Ile)
n.18133G>C
c.18117G>C (p.Met6039Ile)
c.18039G>C (p.Met6013Ile)
c.15423G>C (p.Met5141Ile)
c.18141G>C (p.Met6047Ile)
c.18138G>C (p.Met6046Ile)
c.18060G>C (p.Met6020Ile)
c.18045G>C (p.Met6015Ile)
c.17961G>C (p.Met5987Ile)
c.11259G>C (p.Met3753Ile)
c.11238G>C (p.Met3746Ile)
n.18136G>C
5g.90985490G>TCA360429347ADGRV1c.18120G>T (p.Met6040Ile)
c.7074G>T (p.Met2358Ile)
n.5387G>T
c.1332G>T
c.412G>T (n.412G>T)
c.204G>T (p.Met68Ile)
c.4569G>T (n.4569G>T)
c.5103G>T (p.Met1701Ile)
n.18133G>T
c.18117G>T (p.Met6039Ile)
c.18039G>T (p.Met6013Ile)
c.15423G>T (p.Met5141Ile)
c.18141G>T (p.Met6047Ile)
c.18138G>T (p.Met6046Ile)
c.18060G>T (p.Met6020Ile)
c.18045G>T (p.Met6015Ile)
c.17961G>T (p.Met5987Ile)
c.11259G>T (p.Met3753Ile)
c.11238G>T (p.Met3746Ile)
n.18136G>T
 COSMIC
5g.90985491T>ACA360429348ADGRV1c.18121T>A (p.Ser6041Thr)
c.7075T>A (p.Ser2359Thr)
n.5388T>A
c.1333T>A
c.413T>A (n.413T>A)
c.205T>A (p.Ser69Thr)
c.4570T>A (n.4570T>A)
c.5104T>A (p.Ser1702Thr)
n.18134T>A
c.18118T>A (p.Ser6040Thr)
c.18040T>A (p.Ser6014Thr)
c.15424T>A (p.Ser5142Thr)
c.18142T>A (p.Ser6048Thr)
c.18139T>A (p.Ser6047Thr)
c.18061T>A (p.Ser6021Thr)
c.18046T>A (p.Ser6016Thr)
c.17962T>A (p.Ser5988Thr)
c.11260T>A (p.Ser3754Thr)
c.11239T>A (p.Ser3747Thr)
n.18137T>A
5g.90985491T>CCA360429349ADGRV1c.18121T>C (p.Ser6041Pro)
c.7075T>C (p.Ser2359Pro)
n.5388T>C
c.1333T>C
c.413T>C (n.413T>C)
c.205T>C (p.Ser69Pro)
c.4570T>C (n.4570T>C)
c.5104T>C (p.Ser1702Pro)
n.18134T>C
c.18118T>C (p.Ser6040Pro)
c.18040T>C (p.Ser6014Pro)
c.15424T>C (p.Ser5142Pro)
c.18142T>C (p.Ser6048Pro)
c.18139T>C (p.Ser6047Pro)
c.18061T>C (p.Ser6021Pro)
c.18046T>C (p.Ser6016Pro)
c.17962T>C (p.Ser5988Pro)
c.11260T>C (p.Ser3754Pro)
c.11239T>C (p.Ser3747Pro)
n.18137T>C
 COSMIC
5g.90985491T>GCA360429350ADGRV1c.18121T>G (p.Ser6041Ala)
c.7075T>G (p.Ser2359Ala)
n.5388T>G
c.1333T>G
c.413T>G (n.413T>G)
c.205T>G (p.Ser69Ala)
c.4570T>G (n.4570T>G)
c.5104T>G (p.Ser1702Ala)
n.18134T>G
c.18118T>G (p.Ser6040Ala)
c.18040T>G (p.Ser6014Ala)
c.15424T>G (p.Ser5142Ala)
c.18142T>G (p.Ser6048Ala)
c.18139T>G (p.Ser6047Ala)
c.18061T>G (p.Ser6021Ala)
c.18046T>G (p.Ser6016Ala)
c.17962T>G (p.Ser5988Ala)
c.11260T>G (p.Ser3754Ala)
c.11239T>G (p.Ser3747Ala)
n.18137T>G
5g.90985492C>ACA360429351ADGRV1c.18122C>A (p.Ser6041Ter)
c.7076C>A (p.Ser2359Ter)
n.5389C>A
c.1334C>A
c.414C>A (n.414C>A)
c.206C>A (p.Ser69Ter)
c.4571C>A (n.4571C>A)
c.5105C>A (p.Ser1702Ter)
n.18135C>A
c.18119C>A (p.Ser6040Ter)
c.18041C>A (p.Ser6014Ter)
c.15425C>A (p.Ser5142Ter)
c.18143C>A (p.Ser6048Ter)
c.18140C>A (p.Ser6047Ter)
c.18062C>A (p.Ser6021Ter)
c.18047C>A (p.Ser6016Ter)
c.17963C>A (p.Ser5988Ter)
c.11261C>A (p.Ser3754Ter)
c.11240C>A (p.Ser3747Ter)
n.18138C>A
5g.90985492C>GCA360429352ADGRV1c.18122C>G (p.Ser6041Ter)
c.7076C>G (p.Ser2359Ter)
n.5389C>G
c.1334C>G
c.414C>G (n.414C>G)
c.206C>G (p.Ser69Ter)
c.4571C>G (n.4571C>G)
c.5105C>G (p.Ser1702Ter)
n.18135C>G
c.18119C>G (p.Ser6040Ter)
c.18041C>G (p.Ser6014Ter)
c.15425C>G (p.Ser5142Ter)
c.18143C>G (p.Ser6048Ter)
c.18140C>G (p.Ser6047Ter)
c.18062C>G (p.Ser6021Ter)
c.18047C>G (p.Ser6016Ter)
c.17963C>G (p.Ser5988Ter)
c.11261C>G (p.Ser3754Ter)
c.11240C>G (p.Ser3747Ter)
n.18138C>G
5g.90985492C>TCA360429353ADGRV1c.18122C>T (p.Ser6041Leu)
c.7076C>T (p.Ser2359Leu)
n.5389C>T
c.1334C>T
c.414C>T (n.414C>T)
c.206C>T (p.Ser69Leu)
c.4571C>T (n.4571C>T)
c.5105C>T (p.Ser1702Leu)
n.18135C>T
c.18119C>T (p.Ser6040Leu)
c.18041C>T (p.Ser6014Leu)
c.15425C>T (p.Ser5142Leu)
c.18143C>T (p.Ser6048Leu)
c.18140C>T (p.Ser6047Leu)
c.18062C>T (p.Ser6021Leu)
c.18047C>T (p.Ser6016Leu)
c.17963C>T (p.Ser5988Leu)
c.11261C>T (p.Ser3754Leu)
c.11240C>T (p.Ser3747Leu)
n.18138C>T
 gnomAD v4 COSMIC
5g.90985493A>CCA445441369ADGRV1c.18123A>C (p.Ser6041=)
c.7077A>C (p.Ser2359=)
n.5390A>C
c.1335A>C
c.415A>C (n.415A>C)
c.207A>C (p.Ser69=)
c.4572A>C (n.4572A>C)
c.5106A>C (p.Ser1702=)
n.18136A>C
c.18120A>C (p.Ser6040=)
c.18042A>C (p.Ser6014=)
c.15426A>C (p.Ser5142=)
c.18144A>C (p.Ser6048=)
c.18141A>C (p.Ser6047=)
c.18063A>C (p.Ser6021=)
c.18048A>C (p.Ser6016=)
c.17964A>C (p.Ser5988=)
c.11262A>C (p.Ser3754=)
c.11241A>C (p.Ser3747=)
n.18139A>C
5g.90985493A>GCA445441376ADGRV1c.18123A>G (p.Ser6041=)
c.7077A>G (p.Ser2359=)
n.5390A>G
c.1335A>G
c.415A>G (n.415A>G)
c.207A>G (p.Ser69=)
c.4572A>G (n.4572A>G)
c.5106A>G (p.Ser1702=)
n.18136A>G
c.18120A>G (p.Ser6040=)
c.18042A>G (p.Ser6014=)
c.15426A>G (p.Ser5142=)
c.18144A>G (p.Ser6048=)
c.18141A>G (p.Ser6047=)
c.18063A>G (p.Ser6021=)
c.18048A>G (p.Ser6016=)
c.17964A>G (p.Ser5988=)
c.11262A>G (p.Ser3754=)
c.11241A>G (p.Ser3747=)
n.18139A>G
5g.90985493A>TCA445441372ADGRV1c.18123A>T (p.Ser6041=)
c.7077A>T (p.Ser2359=)
n.5390A>T
c.1335A>T
c.415A>T (n.415A>T)
c.207A>T (p.Ser69=)
c.4572A>T (n.4572A>T)
c.5106A>T (p.Ser1702=)
n.18136A>T
c.18120A>T (p.Ser6040=)
c.18042A>T (p.Ser6014=)
c.15426A>T (p.Ser5142=)
c.18144A>T (p.Ser6048=)
c.18141A>T (p.Ser6047=)
c.18063A>T (p.Ser6021=)
c.18048A>T (p.Ser6016=)
c.17964A>T (p.Ser5988=)
c.11262A>T (p.Ser3754=)
c.11241A>T (p.Ser3747=)
n.18139A>T
5g.90985494C>ACA360429354ADGRV1c.18124C>A (p.Gln6042Lys)
c.7078C>A (p.Gln2360Lys)
n.5391C>A
c.1336C>A
c.416C>A (n.416C>A)
c.208C>A (p.Gln70Lys)
c.4573C>A (n.4573C>A)
c.5107C>A (p.Gln1703Lys)
n.18137C>A
c.18121C>A (p.Gln6041Lys)
c.18043C>A (p.Gln6015Lys)
c.15427C>A (p.Gln5143Lys)
c.18145C>A (p.Gln6049Lys)
c.18142C>A (p.Gln6048Lys)
c.18064C>A (p.Gln6022Lys)
c.18049C>A (p.Gln6017Lys)
c.17965C>A (p.Gln5989Lys)
c.11263C>A (p.Gln3755Lys)
c.11242C>A (p.Gln3748Lys)
n.18140C>A
5g.90985494C>GCA360429356ADGRV1c.18124C>G (p.Gln6042Glu)
c.7078C>G (p.Gln2360Glu)
n.5391C>G
c.1336C>G
c.416C>G (n.416C>G)
c.208C>G (p.Gln70Glu)
c.4573C>G (n.4573C>G)
c.5107C>G (p.Gln1703Glu)
n.18137C>G
c.18121C>G (p.Gln6041Glu)
c.18043C>G (p.Gln6015Glu)
c.15427C>G (p.Gln5143Glu)
c.18145C>G (p.Gln6049Glu)
c.18142C>G (p.Gln6048Glu)
c.18064C>G (p.Gln6022Glu)
c.18049C>G (p.Gln6017Glu)
c.17965C>G (p.Gln5989Glu)
c.11263C>G (p.Gln3755Glu)
c.11242C>G (p.Gln3748Glu)
n.18140C>G
 gnomAD v4
5g.90985494C>TCA360429355ADGRV1c.18124C>T (p.Gln6042Ter)
c.7078C>T (p.Gln2360Ter)
n.5391C>T
c.1336C>T
c.416C>T (n.416C>T)
c.208C>T (p.Gln70Ter)
c.4573C>T (n.4573C>T)
c.5107C>T (p.Gln1703Ter)
n.18137C>T
c.18121C>T (p.Gln6041Ter)
c.18043C>T (p.Gln6015Ter)
c.15427C>T (p.Gln5143Ter)
c.18145C>T (p.Gln6049Ter)
c.18142C>T (p.Gln6048Ter)
c.18064C>T (p.Gln6022Ter)
c.18049C>T (p.Gln6017Ter)
c.17965C>T (p.Gln5989Ter)
c.11263C>T (p.Gln3755Ter)
c.11242C>T (p.Gln3748Ter)
n.18140C>T
5g.90985495A=CA1562990528ADGRV1c.18125A= (p.Gln6042=)
c.7079A= (p.Gln2360=)
n.5392A=
c.1337A=
c.417A= (n.417A=)
c.209A= (p.Gln70=)
c.4574A= (n.4574A=)
c.5108A= (p.Gln1703=)
n.18138A=
c.18122A= (p.Gln6041=)
c.18044A= (p.Gln6015=)
c.15428A= (p.Gln5143=)
c.18146A= (p.Gln6049=)
c.18143A= (p.Gln6048=)
c.18065A= (p.Gln6022=)
c.18050A= (p.Gln6017=)
c.17966A= (p.Gln5989=)
c.11264A= (p.Gln3755=)
c.11243A= (p.Gln3748=)
n.18141A=
5g.90985495A>CCA360429357ADGRV1c.18125A>C (p.Gln6042Pro)
c.7079A>C (p.Gln2360Pro)
n.5392A>C
c.1337A>C
c.417A>C (n.417A>C)
c.209A>C (p.Gln70Pro)
c.4574A>C (n.4574A>C)
c.5108A>C (p.Gln1703Pro)
n.18138A>C
c.18122A>C (p.Gln6041Pro)
c.18044A>C (p.Gln6015Pro)
c.15428A>C (p.Gln5143Pro)
c.18146A>C (p.Gln6049Pro)
c.18143A>C (p.Gln6048Pro)
c.18065A>C (p.Gln6022Pro)
c.18050A>C (p.Gln6017Pro)
c.17966A>C (p.Gln5989Pro)
c.11264A>C (p.Gln3755Pro)
c.11243A>C (p.Gln3748Pro)
n.18141A>C
5g.90985495A>GCA3342559ADGRV1c.18125A>G (p.Gln6042Arg)
c.7079A>G (p.Gln2360Arg)
n.5392A>G
c.1337A>G
c.417A>G (n.417A>G)
c.209A>G (p.Gln70Arg)
c.4574A>G (n.4574A>G)
c.5108A>G (p.Gln1703Arg)
n.18138A>G
c.18122A>G (p.Gln6041Arg)
c.18044A>G (p.Gln6015Arg)
c.15428A>G (p.Gln5143Arg)
c.18146A>G (p.Gln6049Arg)
c.18143A>G (p.Gln6048Arg)
c.18065A>G (p.Gln6022Arg)
c.18050A>G (p.Gln6017Arg)
c.17966A>G (p.Gln5989Arg)
c.11264A>G (p.Gln3755Arg)
c.11243A>G (p.Gln3748Arg)
n.18141A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985495A>TCA360429358ADGRV1c.18125A>T (p.Gln6042Leu)
c.7079A>T (p.Gln2360Leu)
n.5392A>T
c.1337A>T
c.417A>T (n.417A>T)
c.209A>T (p.Gln70Leu)
c.4574A>T (n.4574A>T)
c.5108A>T (p.Gln1703Leu)
n.18138A>T
c.18122A>T (p.Gln6041Leu)
c.18044A>T (p.Gln6015Leu)
c.15428A>T (p.Gln5143Leu)
c.18146A>T (p.Gln6049Leu)
c.18143A>T (p.Gln6048Leu)
c.18065A>T (p.Gln6022Leu)
c.18050A>T (p.Gln6017Leu)
c.17966A>T (p.Gln5989Leu)
c.11264A>T (p.Gln3755Leu)
c.11243A>T (p.Gln3748Leu)
n.18141A>T
5g.90985496G>ACA445441386ADGRV1c.18126G>A (p.Gln6042=)
c.7080G>A (p.Gln2360=)
n.5393G>A
c.1338G>A
c.418G>A (n.418G>A)
c.210G>A (p.Gln70=)
c.4575G>A (n.4575G>A)
c.5109G>A (p.Gln1703=)
n.18139G>A
c.18123G>A (p.Gln6041=)
c.18045G>A (p.Gln6015=)
c.15429G>A (p.Gln5143=)
c.18147G>A (p.Gln6049=)
c.18144G>A (p.Gln6048=)
c.18066G>A (p.Gln6022=)
c.18051G>A (p.Gln6017=)
c.17967G>A (p.Gln5989=)
c.11265G>A (p.Gln3755=)
c.11244G>A (p.Gln3748=)
n.18142G>A
5g.90985496G>CCA360429359ADGRV1c.18126G>C (p.Gln6042His)
c.7080G>C (p.Gln2360His)
n.5393G>C
c.1338G>C
c.418G>C (n.418G>C)
c.210G>C (p.Gln70His)
c.4575G>C (n.4575G>C)
c.5109G>C (p.Gln1703His)
n.18139G>C
c.18123G>C (p.Gln6041His)
c.18045G>C (p.Gln6015His)
c.15429G>C (p.Gln5143His)
c.18147G>C (p.Gln6049His)
c.18144G>C (p.Gln6048His)
c.18066G>C (p.Gln6022His)
c.18051G>C (p.Gln6017His)
c.17967G>C (p.Gln5989His)
c.11265G>C (p.Gln3755His)
c.11244G>C (p.Gln3748His)
n.18142G>C
5g.90985496G>TCA360429360ADGRV1c.18126G>T (p.Gln6042His)
c.7080G>T (p.Gln2360His)
n.5393G>T
c.1338G>T
c.418G>T (n.418G>T)
c.210G>T (p.Gln70His)
c.4575G>T (n.4575G>T)
c.5109G>T (p.Gln1703His)
n.18139G>T
c.18123G>T (p.Gln6041His)
c.18045G>T (p.Gln6015His)
c.15429G>T (p.Gln5143His)
c.18147G>T (p.Gln6049His)
c.18144G>T (p.Gln6048His)
c.18066G>T (p.Gln6022His)
c.18051G>T (p.Gln6017His)
c.17967G>T (p.Gln5989His)
c.11265G>T (p.Gln3755His)
c.11244G>T (p.Gln3748His)
n.18142G>T
5g.90985497A>CCA360429361ADGRV1c.18127A>C (p.Ile6043Leu)
c.7081A>C (p.Ile2361Leu)
n.5394A>C
c.1339A>C
c.419A>C (n.419A>C)
c.211A>C (p.Ile71Leu)
c.4576A>C (n.4576A>C)
c.5110A>C (p.Ile1704Leu)
n.18140A>C
c.18124A>C (p.Ile6042Leu)
c.18046A>C (p.Ile6016Leu)
c.15430A>C (p.Ile5144Leu)
c.18148A>C (p.Ile6050Leu)
c.18145A>C (p.Ile6049Leu)
c.18067A>C (p.Ile6023Leu)
c.18052A>C (p.Ile6018Leu)
c.17968A>C (p.Ile5990Leu)
c.11266A>C (p.Ile3756Leu)
c.11245A>C (p.Ile3749Leu)
n.18143A>C
5g.90985497A>GCA360429363ADGRV1c.18127A>G (p.Ile6043Val)
c.7081A>G (p.Ile2361Val)
n.5394A>G
c.1339A>G
c.419A>G (n.419A>G)
c.211A>G (p.Ile71Val)
c.4576A>G (n.4576A>G)
c.5110A>G (p.Ile1704Val)
n.18140A>G
c.18124A>G (p.Ile6042Val)
c.18046A>G (p.Ile6016Val)
c.15430A>G (p.Ile5144Val)
c.18148A>G (p.Ile6050Val)
c.18145A>G (p.Ile6049Val)
c.18067A>G (p.Ile6023Val)
c.18052A>G (p.Ile6018Val)
c.17968A>G (p.Ile5990Val)
c.11266A>G (p.Ile3756Val)
c.11245A>G (p.Ile3749Val)
n.18143A>G
5g.90985497A>TCA360429362ADGRV1c.18127A>T (p.Ile6043Phe)
c.7081A>T (p.Ile2361Phe)
n.5394A>T
c.1339A>T
c.419A>T (n.419A>T)
c.211A>T (p.Ile71Phe)
c.4576A>T (n.4576A>T)
c.5110A>T (p.Ile1704Phe)
n.18140A>T
c.18124A>T (p.Ile6042Phe)
c.18046A>T (p.Ile6016Phe)
c.15430A>T (p.Ile5144Phe)
c.18148A>T (p.Ile6050Phe)
c.18145A>T (p.Ile6049Phe)
c.18067A>T (p.Ile6023Phe)
c.18052A>T (p.Ile6018Phe)
c.17968A>T (p.Ile5990Phe)
c.11266A>T (p.Ile3756Phe)
c.11245A>T (p.Ile3749Phe)
n.18143A>T
5g.90985498T>ACA360429364ADGRV1c.18128T>A (p.Ile6043Asn)
c.7082T>A (p.Ile2361Asn)
n.5395T>A
c.1340T>A
c.420T>A (n.420T>A)
c.212T>A (p.Ile71Asn)
c.4577T>A (n.4577T>A)
c.5111T>A (p.Ile1704Asn)
n.18141T>A
c.18125T>A (p.Ile6042Asn)
c.18047T>A (p.Ile6016Asn)
c.15431T>A (p.Ile5144Asn)
c.18149T>A (p.Ile6050Asn)
c.18146T>A (p.Ile6049Asn)
c.18068T>A (p.Ile6023Asn)
c.18053T>A (p.Ile6018Asn)
c.17969T>A (p.Ile5990Asn)
c.11267T>A (p.Ile3756Asn)
c.11246T>A (p.Ile3749Asn)
n.18144T>A
 COSMIC
5g.90985498T>CCA3342560ADGRV1c.18128T>C (p.Ile6043Thr)
c.7082T>C (p.Ile2361Thr)
n.5395T>C
c.1340T>C
c.420T>C (n.420T>C)
c.212T>C (p.Ile71Thr)
c.4577T>C (n.4577T>C)
c.5111T>C (p.Ile1704Thr)
n.18141T>C
c.18125T>C (p.Ile6042Thr)
c.18047T>C (p.Ile6016Thr)
c.15431T>C (p.Ile5144Thr)
c.18149T>C (p.Ile6050Thr)
c.18146T>C (p.Ile6049Thr)
c.18068T>C (p.Ile6023Thr)
c.18053T>C (p.Ile6018Thr)
c.17969T>C (p.Ile5990Thr)
c.11267T>C (p.Ile3756Thr)
c.11246T>C (p.Ile3749Thr)
n.18144T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90985498T>GCA360429365ADGRV1c.18128T>G (p.Ile6043Ser)
c.7082T>G (p.Ile2361Ser)
n.5395T>G
c.1340T>G
c.420T>G (n.420T>G)
c.212T>G (p.Ile71Ser)
c.4577T>G (n.4577T>G)
c.5111T>G (p.Ile1704Ser)
n.18141T>G
c.18125T>G (p.Ile6042Ser)
c.18047T>G (p.Ile6016Ser)
c.15431T>G (p.Ile5144Ser)
c.18149T>G (p.Ile6050Ser)
c.18146T>G (p.Ile6049Ser)
c.18068T>G (p.Ile6023Ser)
c.18053T>G (p.Ile6018Ser)
c.17969T>G (p.Ile5990Ser)
c.11267T>G (p.Ile3756Ser)
c.11246T>G (p.Ile3749Ser)
n.18144T>G
5g.90985498T=CA1562990535ADGRV1c.18128T= (p.Ile6043=)
c.7082T= (p.Ile2361=)
n.5395T=
c.1340T=
c.420T= (n.420T=)
c.212T= (p.Ile71=)
c.4577T= (n.4577T=)
c.5111T= (p.Ile1704=)
n.18141T=
c.18125T= (p.Ile6042=)
c.18047T= (p.Ile6016=)
c.15431T= (p.Ile5144=)
c.18149T= (p.Ile6050=)
c.18146T= (p.Ile6049=)
c.18068T= (p.Ile6023=)
c.18053T= (p.Ile6018=)
c.17969T= (p.Ile5990=)
c.11267T= (p.Ile3756=)
c.11246T= (p.Ile3749=)
n.18144T=
5g.90985499C>ACA445441398ADGRV1c.18129C>A (p.Ile6043=)
c.7083C>A (p.Ile2361=)
n.5396C>A
c.1341C>A
c.421C>A (n.421C>A)
c.213C>A (p.Ile71=)
c.4578C>A (n.4578C>A)
c.5112C>A (p.Ile1704=)
n.18142C>A
c.18126C>A (p.Ile6042=)
c.18048C>A (p.Ile6016=)
c.15432C>A (p.Ile5144=)
c.18150C>A (p.Ile6050=)
c.18147C>A (p.Ile6049=)
c.18069C>A (p.Ile6023=)
c.18054C>A (p.Ile6018=)
c.17970C>A (p.Ile5990=)
c.11268C>A (p.Ile3756=)
c.11247C>A (p.Ile3749=)
n.18145C>A
5g.90985499C>GCA360429366ADGRV1c.18129C>G (p.Ile6043Met)
c.7083C>G (p.Ile2361Met)
n.5396C>G
c.1341C>G
c.421C>G (n.421C>G)
c.213C>G (p.Ile71Met)
c.4578C>G (n.4578C>G)
c.5112C>G (p.Ile1704Met)
n.18142C>G
c.18126C>G (p.Ile6042Met)
c.18048C>G (p.Ile6016Met)
c.15432C>G (p.Ile5144Met)
c.18150C>G (p.Ile6050Met)
c.18147C>G (p.Ile6049Met)
c.18069C>G (p.Ile6023Met)
c.18054C>G (p.Ile6018Met)
c.17970C>G (p.Ile5990Met)
c.11268C>G (p.Ile3756Met)
c.11247C>G (p.Ile3749Met)
n.18145C>G
 gnomAD v4
5g.90985499C>TCA445441401ADGRV1c.18129C>T (p.Ile6043=)
c.7083C>T (p.Ile2361=)
n.5396C>T
c.1341C>T
c.421C>T (n.421C>T)
c.213C>T (p.Ile71=)
c.4578C>T (n.4578C>T)
c.5112C>T (p.Ile1704=)
n.18142C>T
c.18126C>T (p.Ile6042=)
c.18048C>T (p.Ile6016=)
c.15432C>T (p.Ile5144=)
c.18150C>T (p.Ile6050=)
c.18147C>T (p.Ile6049=)
c.18069C>T (p.Ile6023=)
c.18054C>T (p.Ile6018=)
c.17970C>T (p.Ile5990=)
c.11268C>T (p.Ile3756=)
c.11247C>T (p.Ile3749=)
n.18145C>T
 gnomAD v4
5g.90985500T>ACA360429367ADGRV1c.18130T>A (p.Tyr6044Asn)
c.7084T>A (p.Tyr2362Asn)
n.5397T>A
c.1342T>A
c.422T>A (n.422T>A)
c.214T>A (p.Tyr72Asn)
c.4579T>A (n.4579T>A)
c.5113T>A (p.Tyr1705Asn)
n.18143T>A
c.18127T>A (p.Tyr6043Asn)
c.18049T>A (p.Tyr6017Asn)
c.15433T>A (p.Tyr5145Asn)
c.18151T>A (p.Tyr6051Asn)
c.18148T>A (p.Tyr6050Asn)
c.18070T>A (p.Tyr6024Asn)
c.18055T>A (p.Tyr6019Asn)
c.17971T>A (p.Tyr5991Asn)
c.11269T>A (p.Tyr3757Asn)
c.11248T>A (p.Tyr3750Asn)
n.18146T>A
 dbSNP gnomAD v4
5g.90985500T>CCA360429368ADGRV1c.18130T>C (p.Tyr6044His)
c.7084T>C (p.Tyr2362His)
n.5397T>C
c.1342T>C
c.422T>C (n.422T>C)
c.214T>C (p.Tyr72His)
c.4579T>C (n.4579T>C)
c.5113T>C (p.Tyr1705His)
n.18143T>C
c.18127T>C (p.Tyr6043His)
c.18049T>C (p.Tyr6017His)
c.15433T>C (p.Tyr5145His)
c.18151T>C (p.Tyr6051His)
c.18148T>C (p.Tyr6050His)
c.18070T>C (p.Tyr6024His)
c.18055T>C (p.Tyr6019His)
c.17971T>C (p.Tyr5991His)
c.11269T>C (p.Tyr3757His)
c.11248T>C (p.Tyr3750His)
n.18146T>C
5g.90985500T>GCA360429369ADGRV1c.18130T>G (p.Tyr6044Asp)
c.7084T>G (p.Tyr2362Asp)
n.5397T>G
c.1342T>G
c.422T>G (n.422T>G)
c.214T>G (p.Tyr72Asp)
c.4579T>G (n.4579T>G)
c.5113T>G (p.Tyr1705Asp)
n.18143T>G
c.18127T>G (p.Tyr6043Asp)
c.18049T>G (p.Tyr6017Asp)
c.15433T>G (p.Tyr5145Asp)
c.18151T>G (p.Tyr6051Asp)
c.18148T>G (p.Tyr6050Asp)
c.18070T>G (p.Tyr6024Asp)
c.18055T>G (p.Tyr6019Asp)
c.17971T>G (p.Tyr5991Asp)
c.11269T>G (p.Tyr3757Asp)
c.11248T>G (p.Tyr3750Asp)
n.18146T>G
5g.90985500T=CA1562990540ADGRV1c.18130T= (p.Tyr6044=)
c.7084T= (p.Tyr2362=)
n.5397T=
c.1342T=
c.422T= (n.422T=)
c.214T= (p.Tyr72=)
c.4579T= (n.4579T=)
c.5113T= (p.Tyr1705=)
n.18143T=
c.18127T= (p.Tyr6043=)
c.18049T= (p.Tyr6017=)
c.15433T= (p.Tyr5145=)
c.18151T= (p.Tyr6051=)
c.18148T= (p.Tyr6050=)
c.18070T= (p.Tyr6024=)
c.18055T= (p.Tyr6019=)
c.17971T= (p.Tyr5991=)
c.11269T= (p.Tyr3757=)
c.11248T= (p.Tyr3750=)
n.18146T=
5g.90985501A=CA1562990543ADGRV1c.18131A= (p.Tyr6044=)
c.7085A= (p.Tyr2362=)
n.5398A=
c.1343A=
c.423A= (n.423A=)
c.215A= (p.Tyr72=)
c.4580A= (n.4580A=)
c.5114A= (p.Tyr1705=)
n.18144A=
c.18128A= (p.Tyr6043=)
c.18050A= (p.Tyr6017=)
c.15434A= (p.Tyr5145=)
c.18152A= (p.Tyr6051=)
c.18149A= (p.Tyr6050=)
c.18071A= (p.Tyr6024=)
c.18056A= (p.Tyr6019=)
c.17972A= (p.Tyr5991=)
c.11270A= (p.Tyr3757=)
c.11249A= (p.Tyr3750=)
n.18147A=
5g.90985501A>CCA360429370ADGRV1c.18131A>C (p.Tyr6044Ser)
c.7085A>C (p.Tyr2362Ser)
n.5398A>C
c.1343A>C
c.423A>C (n.423A>C)
c.215A>C (p.Tyr72Ser)
c.4580A>C (n.4580A>C)
c.5114A>C (p.Tyr1705Ser)
n.18144A>C
c.18128A>C (p.Tyr6043Ser)
c.18050A>C (p.Tyr6017Ser)
c.15434A>C (p.Tyr5145Ser)
c.18152A>C (p.Tyr6051Ser)
c.18149A>C (p.Tyr6050Ser)
c.18071A>C (p.Tyr6024Ser)
c.18056A>C (p.Tyr6019Ser)
c.17972A>C (p.Tyr5991Ser)
c.11270A>C (p.Tyr3757Ser)
c.11249A>C (p.Tyr3750Ser)
n.18147A>C
5g.90985501A>GCA253960ADGRV1c.18131A>G (p.Tyr6044Cys)
c.7085A>G (p.Tyr2362Cys)
n.5398A>G
c.1343A>G
c.423A>G (n.423A>G)
c.215A>G (p.Tyr72Cys)
c.4580A>G (n.4580A>G)
c.5114A>G (p.Tyr1705Cys)
n.18144A>G
c.18128A>G (p.Tyr6043Cys)
c.18050A>G (p.Tyr6017Cys)
c.15434A>G (p.Tyr5145Cys)
c.18152A>G (p.Tyr6051Cys)
c.18149A>G (p.Tyr6050Cys)
c.18071A>G (p.Tyr6024Cys)
c.18056A>G (p.Tyr6019Cys)
c.17972A>G (p.Tyr5991Cys)
c.11270A>G (p.Tyr3757Cys)
c.11249A>G (p.Tyr3750Cys)
n.18147A>G
 ClinVar dbSNP gnomAD v4
5g.90985501A>TCA360429371ADGRV1c.18131A>T (p.Tyr6044Phe)
c.7085A>T (p.Tyr2362Phe)
n.5398A>T
c.1343A>T
c.423A>T (n.423A>T)
c.215A>T (p.Tyr72Phe)
c.4580A>T (n.4580A>T)
c.5114A>T (p.Tyr1705Phe)
n.18144A>T
c.18128A>T (p.Tyr6043Phe)
c.18050A>T (p.Tyr6017Phe)
c.15434A>T (p.Tyr5145Phe)
c.18152A>T (p.Tyr6051Phe)
c.18149A>T (p.Tyr6050Phe)
c.18071A>T (p.Tyr6024Phe)
c.18056A>T (p.Tyr6019Phe)
c.17972A>T (p.Tyr5991Phe)
c.11270A>T (p.Tyr3757Phe)
c.11249A>T (p.Tyr3750Phe)
n.18147A>T

Number of alleles fetched