Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90692694T>ACA3339955ADGRV1c.7041T>A (p.Asp2347Glu)
c.265+16485T>A (n.265+16485T>A)
n.2500T>A
c.848T>A
n.185T>A
c.4332T>A (p.Asp1444Glu)
c.1770T>A
n.7054T>A
c.7038T>A (p.Asp2346Glu)
c.6960T>A (p.Asp2320Glu)
c.4344T>A (p.Asp1448Glu)
c.6945T>A (p.Asp2315Glu)
c.159T>A (p.Asp53Glu)
n.7057T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692694T>CCA445404515ADGRV1c.7041T>C (p.Asp2347=)
c.265+16485T>C (n.265+16485T>C)
n.2500T>C
c.848T>C
n.185T>C
c.4332T>C (p.Asp1444=)
c.1770T>C
n.7054T>C
c.7038T>C (p.Asp2346=)
c.6960T>C (p.Asp2320=)
c.4344T>C (p.Asp1448=)
c.6945T>C (p.Asp2315=)
c.159T>C (p.Asp53=)
n.7057T>C
5g.90692694T>GCA360371348ADGRV1c.7041T>G (p.Asp2347Glu)
c.265+16485T>G (n.265+16485T>G)
n.2500T>G
c.848T>G
n.185T>G
c.4332T>G (p.Asp1444Glu)
c.1770T>G
n.7054T>G
c.7038T>G (p.Asp2346Glu)
c.6960T>G (p.Asp2320Glu)
c.4344T>G (p.Asp1448Glu)
c.6945T>G (p.Asp2315Glu)
c.159T>G (p.Asp53Glu)
n.7057T>G
ClinVar
5g.90692694T=CA1562859284ADGRV1c.7041T= (p.Asp2347=)
c.265+16485T= (n.265+16485T=)
n.2500T=
c.848T=
n.185T=
c.4332T= (p.Asp1444=)
c.1770T=
n.7054T=
c.7038T= (p.Asp2346=)
c.6960T= (p.Asp2320=)
c.4344T= (p.Asp1448=)
c.6945T= (p.Asp2315=)
c.159T= (p.Asp53=)
n.7057T=
5g.90692695C>ACA360371357ADGRV1c.7042C>A (p.Pro2348Thr)
c.265+16486C>A (n.265+16486C>A)
n.2501C>A
c.849C>A
n.186C>A
c.4333C>A (p.Pro1445Thr)
c.1771C>A
n.7055C>A
c.7039C>A (p.Pro2347Thr)
c.6961C>A (p.Pro2321Thr)
c.4345C>A (p.Pro1449Thr)
c.6946C>A (p.Pro2316Thr)
c.160C>A (p.Pro54Thr)
n.7058C>A
5g.90692695C=CA1562859285ADGRV1c.7042C= (p.Pro2348=)
c.265+16486C= (n.265+16486C=)
n.2501C=
c.849C=
n.186C=
c.4333C= (p.Pro1445=)
c.1771C=
n.7055C=
c.7039C= (p.Pro2347=)
c.6961C= (p.Pro2321=)
c.4345C= (p.Pro1449=)
c.6946C= (p.Pro2316=)
c.160C= (p.Pro54=)
n.7058C=
5g.90692695C>GCA360371355ADGRV1c.7042C>G (p.Pro2348Ala)
c.265+16486C>G (n.265+16486C>G)
n.2501C>G
c.849C>G
n.186C>G
c.4333C>G (p.Pro1445Ala)
c.1771C>G
n.7055C>G
c.7039C>G (p.Pro2347Ala)
c.6961C>G (p.Pro2321Ala)
c.4345C>G (p.Pro1449Ala)
c.6946C>G (p.Pro2316Ala)
c.160C>G (p.Pro54Ala)
n.7058C>G
5g.90692695C>TCA360371353ADGRV1c.7042C>T (p.Pro2348Ser)
c.265+16486C>T (n.265+16486C>T)
n.2501C>T
c.849C>T
n.186C>T
c.4333C>T (p.Pro1445Ser)
c.1771C>T
n.7055C>T
c.7039C>T (p.Pro2347Ser)
c.6961C>T (p.Pro2321Ser)
c.4345C>T (p.Pro1449Ser)
c.6946C>T (p.Pro2316Ser)
c.160C>T (p.Pro54Ser)
n.7058C>T
dbSNP gnomAD v2 gnomAD v4
5g.90692695_90692696delinsTTCA645559071ADGRV1c.7042_7043delinsTT (p.Pro2348Phe)
c.265+16486_265+16487delinsTT (n.265+16486_265+16487delinsTT)
n.2501_2502delinsTT
c.849_850delinsTT
n.186_187delinsTT
c.4333_4334delinsTT (p.Pro1445Phe)
c.1771_1772delinsTT
n.7055_7056delinsTT
c.7039_7040delinsTT (p.Pro2347Phe)
c.6961_6962delinsTT (p.Pro2321Phe)
c.4345_4346delinsTT (p.Pro1449Phe)
c.6946_6947delinsTT (p.Pro2316Phe)
c.160_161delinsTT (p.Pro54Phe)
n.7058_7059delinsTT
COSMIC
5g.90692696C>ACA360371358ADGRV1c.7043C>A (p.Pro2348His)
c.265+16487C>A (n.265+16487C>A)
n.2502C>A
c.850C>A
n.187C>A
c.4334C>A (p.Pro1445His)
c.1772C>A
n.7056C>A
c.7040C>A (p.Pro2347His)
c.6962C>A (p.Pro2321His)
c.4346C>A (p.Pro1449His)
c.6947C>A (p.Pro2316His)
c.161C>A (p.Pro54His)
n.7059C>A
gnomAD v4
5g.90692696C>GCA360371362ADGRV1c.7043C>G (p.Pro2348Arg)
c.265+16487C>G (n.265+16487C>G)
n.2502C>G
c.850C>G
n.187C>G
c.4334C>G (p.Pro1445Arg)
c.1772C>G
n.7056C>G
c.7040C>G (p.Pro2347Arg)
c.6962C>G (p.Pro2321Arg)
c.4346C>G (p.Pro1449Arg)
c.6947C>G (p.Pro2316Arg)
c.161C>G (p.Pro54Arg)
n.7059C>G
5g.90692696C>TCA360371365ADGRV1c.7043C>T (p.Pro2348Leu)
c.265+16487C>T (n.265+16487C>T)
n.2502C>T
c.850C>T
n.187C>T
c.4334C>T (p.Pro1445Leu)
c.1772C>T
n.7056C>T
c.7040C>T (p.Pro2347Leu)
c.6962C>T (p.Pro2321Leu)
c.4346C>T (p.Pro1449Leu)
c.6947C>T (p.Pro2316Leu)
c.161C>T (p.Pro54Leu)
n.7059C>T
gnomAD v4
5g.90692697T>ACA445404516ADGRV1c.7044T>A (p.Pro2348=)
c.265+16488T>A (n.265+16488T>A)
n.2503T>A
c.851T>A
n.188T>A
c.4335T>A (p.Pro1445=)
c.1773T>A
n.7057T>A
c.7041T>A (p.Pro2347=)
c.6963T>A (p.Pro2321=)
c.4347T>A (p.Pro1449=)
c.6948T>A (p.Pro2316=)
c.162T>A (p.Pro54=)
n.7060T>A
dbSNP gnomAD v2 gnomAD v4
5g.90692697T>CCA445404518ADGRV1c.7044T>C (p.Pro2348=)
c.265+16488T>C (n.265+16488T>C)
n.2503T>C
c.851T>C
n.188T>C
c.4335T>C (p.Pro1445=)
c.1773T>C
n.7057T>C
c.7041T>C (p.Pro2347=)
c.6963T>C (p.Pro2321=)
c.4347T>C (p.Pro1449=)
c.6948T>C (p.Pro2316=)
c.162T>C (p.Pro54=)
n.7060T>C
5g.90692697T>GCA445404517ADGRV1c.7044T>G (p.Pro2348=)
c.265+16488T>G (n.265+16488T>G)
n.2503T>G
c.851T>G
n.188T>G
c.4335T>G (p.Pro1445=)
c.1773T>G
n.7057T>G
c.7041T>G (p.Pro2347=)
c.6963T>G (p.Pro2321=)
c.4347T>G (p.Pro1449=)
c.6948T>G (p.Pro2316=)
c.162T>G (p.Pro54=)
n.7060T>G
5g.90692697T=CA1562859286ADGRV1c.7044T= (p.Pro2348=)
c.265+16488T= (n.265+16488T=)
n.2503T=
c.851T=
n.188T=
c.4335T= (p.Pro1445=)
c.1773T=
n.7057T=
c.7041T= (p.Pro2347=)
c.6963T= (p.Pro2321=)
c.4347T= (p.Pro1449=)
c.6948T= (p.Pro2316=)
c.162T= (p.Pro54=)
n.7060T=
5g.90692698T>ACA360371369ADGRV1c.7045T>A (p.Tyr2349Asn)
c.265+16489T>A (n.265+16489T>A)
n.2504T>A
c.852T>A
n.189T>A
c.4336T>A (p.Tyr1446Asn)
c.1774T>A
n.7058T>A
c.7042T>A (p.Tyr2348Asn)
c.6964T>A (p.Tyr2322Asn)
c.4348T>A (p.Tyr1450Asn)
c.6949T>A (p.Tyr2317Asn)
c.163T>A (p.Tyr55Asn)
n.7061T>A
5g.90692698T>CCA360371370ADGRV1c.7045T>C (p.Tyr2349His)
c.265+16489T>C (n.265+16489T>C)
n.2504T>C
c.852T>C
n.189T>C
c.4336T>C (p.Tyr1446His)
c.1774T>C
n.7058T>C
c.7042T>C (p.Tyr2348His)
c.6964T>C (p.Tyr2322His)
c.4348T>C (p.Tyr1450His)
c.6949T>C (p.Tyr2317His)
c.163T>C (p.Tyr55His)
n.7061T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692698T>GCA360371371ADGRV1c.7045T>G (p.Tyr2349Asp)
c.265+16489T>G (n.265+16489T>G)
n.2504T>G
c.852T>G
n.189T>G
c.4336T>G (p.Tyr1446Asp)
c.1774T>G
n.7058T>G
c.7042T>G (p.Tyr2348Asp)
c.6964T>G (p.Tyr2322Asp)
c.4348T>G (p.Tyr1450Asp)
c.6949T>G (p.Tyr2317Asp)
c.163T>G (p.Tyr55Asp)
n.7061T>G
dbSNP gnomAD v2 gnomAD v4
5g.90692698T=CA1562859287ADGRV1c.7045T= (p.Tyr2349=)
c.265+16489T= (n.265+16489T=)
n.2504T=
c.852T=
n.189T=
c.4336T= (p.Tyr1446=)
c.1774T=
n.7058T=
c.7042T= (p.Tyr2348=)
c.6964T= (p.Tyr2322=)
c.4348T= (p.Tyr1450=)
c.6949T= (p.Tyr2317=)
c.163T= (p.Tyr55=)
n.7061T=
5g.90692699A=CA1562859288ADGRV1c.7046A= (p.Tyr2349=)
c.265+16490A= (n.265+16490A=)
n.2505A=
c.853A=
n.190A=
c.4337A= (p.Tyr1446=)
c.1775A=
n.7059A=
c.7043A= (p.Tyr2348=)
c.6965A= (p.Tyr2322=)
c.4349A= (p.Tyr1450=)
c.6950A= (p.Tyr2317=)
c.164A= (p.Tyr55=)
n.7062A=
5g.90692699A>CCA360371372ADGRV1c.7046A>C (p.Tyr2349Ser)
c.265+16490A>C (n.265+16490A>C)
n.2505A>C
c.853A>C
n.190A>C
c.4337A>C (p.Tyr1446Ser)
c.1775A>C
n.7059A>C
c.7043A>C (p.Tyr2348Ser)
c.6965A>C (p.Tyr2322Ser)
c.4349A>C (p.Tyr1450Ser)
c.6950A>C (p.Tyr2317Ser)
c.164A>C (p.Tyr55Ser)
n.7062A>C
5g.90692699A>GCA3339956ADGRV1c.7046A>G (p.Tyr2349Cys)
c.265+16490A>G (n.265+16490A>G)
n.2505A>G
c.853A>G
n.190A>G
c.4337A>G (p.Tyr1446Cys)
c.1775A>G
n.7059A>G
c.7043A>G (p.Tyr2348Cys)
c.6965A>G (p.Tyr2322Cys)
c.4349A>G (p.Tyr1450Cys)
c.6950A>G (p.Tyr2317Cys)
c.164A>G (p.Tyr55Cys)
n.7062A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692699A>TCA360371374ADGRV1c.7046A>T (p.Tyr2349Phe)
c.265+16490A>T (n.265+16490A>T)
n.2505A>T
c.853A>T
n.190A>T
c.4337A>T (p.Tyr1446Phe)
c.1775A>T
n.7059A>T
c.7043A>T (p.Tyr2348Phe)
c.6965A>T (p.Tyr2322Phe)
c.4349A>T (p.Tyr1450Phe)
c.6950A>T (p.Tyr2317Phe)
c.164A>T (p.Tyr55Phe)
n.7062A>T
dbSNP gnomAD v2 gnomAD v4
5g.90692700T>ACA360371379ADGRV1c.7047T>A (p.Tyr2349Ter)
c.265+16491T>A (n.265+16491T>A)
n.2506T>A
c.854T>A
n.191T>A
c.4338T>A (p.Tyr1446Ter)
c.1776T>A
n.7060T>A
c.7044T>A (p.Tyr2348Ter)
c.6966T>A (p.Tyr2322Ter)
c.4350T>A (p.Tyr1450Ter)
c.6951T>A (p.Tyr2317Ter)
c.165T>A (p.Tyr55Ter)
n.7063T>A
5g.90692700T>CCA122797188ADGRV1c.7047T>C (p.Tyr2349=)
c.265+16491T>C (n.265+16491T>C)
n.2506T>C
c.854T>C
n.191T>C
c.4338T>C (p.Tyr1446=)
c.1776T>C
n.7060T>C
c.7044T>C (p.Tyr2348=)
c.6966T>C (p.Tyr2322=)
c.4350T>C (p.Tyr1450=)
c.6951T>C (p.Tyr2317=)
c.165T>C (p.Tyr55=)
n.7063T>C
ClinVar dbSNP
5g.90692700T>GCA360371383ADGRV1c.7047T>G (p.Tyr2349Ter)
c.265+16491T>G (n.265+16491T>G)
n.2506T>G
c.854T>G
n.191T>G
c.4338T>G (p.Tyr1446Ter)
c.1776T>G
n.7060T>G
c.7044T>G (p.Tyr2348Ter)
c.6966T>G (p.Tyr2322Ter)
c.4350T>G (p.Tyr1450Ter)
c.6951T>G (p.Tyr2317Ter)
c.165T>G (p.Tyr55Ter)
n.7063T>G
5g.90692700T=CA1562859289ADGRV1c.7047T= (p.Tyr2349=)
c.265+16491T= (n.265+16491T=)
n.2506T=
c.854T=
n.191T=
c.4338T= (p.Tyr1446=)
c.1776T=
n.7060T=
c.7044T= (p.Tyr2348=)
c.6966T= (p.Tyr2322=)
c.4350T= (p.Tyr1450=)
c.6951T= (p.Tyr2317=)
c.165T= (p.Tyr55=)
n.7063T=
5g.90692701G>ACA360371389ADGRV1c.7048G>A (p.Gly2350Ser)
c.265+16492G>A (n.265+16492G>A)
n.2507G>A
c.855G>A
n.192G>A
c.4339G>A (p.Gly1447Ser)
c.1777G>A
n.7061G>A
c.7045G>A (p.Gly2349Ser)
c.6967G>A (p.Gly2323Ser)
c.4351G>A (p.Gly1451Ser)
c.6952G>A (p.Gly2318Ser)
c.166G>A (p.Gly56Ser)
n.7064G>A
5g.90692701G>CCA360371392ADGRV1c.7048G>C (p.Gly2350Arg)
c.265+16492G>C (n.265+16492G>C)
n.2507G>C
c.855G>C
n.192G>C
c.4339G>C (p.Gly1447Arg)
c.1777G>C
n.7061G>C
c.7045G>C (p.Gly2349Arg)
c.6967G>C (p.Gly2323Arg)
c.4351G>C (p.Gly1451Arg)
c.6952G>C (p.Gly2318Arg)
c.166G>C (p.Gly56Arg)
n.7064G>C
5g.90692701G=CA1562859290ADGRV1c.7048G= (p.Gly2350=)
c.265+16492G= (n.265+16492G=)
n.2507G=
c.855G=
n.192G=
c.4339G= (p.Gly1447=)
c.1777G=
n.7061G=
c.7045G= (p.Gly2349=)
c.6967G= (p.Gly2323=)
c.4351G= (p.Gly1451=)
c.6952G= (p.Gly2318=)
c.166G= (p.Gly56=)
n.7064G=
5g.90692701G>TCA360371399ADGRV1c.7048G>T (p.Gly2350Cys)
c.265+16492G>T (n.265+16492G>T)
n.2507G>T
c.855G>T
n.192G>T
c.4339G>T (p.Gly1447Cys)
c.1777G>T
n.7061G>T
c.7045G>T (p.Gly2349Cys)
c.6967G>T (p.Gly2323Cys)
c.4351G>T (p.Gly1451Cys)
c.6952G>T (p.Gly2318Cys)
c.166G>T (p.Gly56Cys)
n.7064G>T
dbSNP gnomAD v4
5g.90692702G>ACA360371409ADGRV1c.7049G>A (p.Gly2350Asp)
c.265+16493G>A (n.265+16493G>A)
n.2508G>A
c.856G>A
n.193G>A
c.4340G>A (p.Gly1447Asp)
c.1778G>A
n.7062G>A
c.7046G>A (p.Gly2349Asp)
c.6968G>A (p.Gly2323Asp)
c.4352G>A (p.Gly1451Asp)
c.6953G>A (p.Gly2318Asp)
c.167G>A (p.Gly56Asp)
n.7065G>A
ClinVar
5g.90692702G>CCA360371413ADGRV1c.7049G>C (p.Gly2350Ala)
c.265+16493G>C (n.265+16493G>C)
n.2508G>C
c.856G>C
n.193G>C
c.4340G>C (p.Gly1447Ala)
c.1778G>C
n.7062G>C
c.7046G>C (p.Gly2349Ala)
c.6968G>C (p.Gly2323Ala)
c.4352G>C (p.Gly1451Ala)
c.6953G>C (p.Gly2318Ala)
c.167G>C (p.Gly56Ala)
n.7065G>C
5g.90692702G=CA1562859291ADGRV1c.7049G= (p.Gly2350=)
c.265+16493G= (n.265+16493G=)
n.2508G=
c.856G=
n.193G=
c.4340G= (p.Gly1447=)
c.1778G=
n.7062G=
c.7046G= (p.Gly2349=)
c.6968G= (p.Gly2323=)
c.4352G= (p.Gly1451=)
c.6953G= (p.Gly2318=)
c.167G= (p.Gly56=)
n.7065G=
5g.90692702G>TCA360371421ADGRV1c.7049G>T (p.Gly2350Val)
c.265+16493G>T (n.265+16493G>T)
n.2508G>T
c.856G>T
n.193G>T
c.4340G>T (p.Gly1447Val)
c.1778G>T
n.7062G>T
c.7046G>T (p.Gly2349Val)
c.6968G>T (p.Gly2323Val)
c.4352G>T (p.Gly1451Val)
c.6953G>T (p.Gly2318Val)
c.167G>T (p.Gly56Val)
n.7065G>T
dbSNP gnomAD v2
5g.90692703T>ACA445404519ADGRV1c.7050T>A (p.Gly2350=)
c.265+16494T>A (n.265+16494T>A)
n.2509T>A
c.857T>A
n.194T>A
c.4341T>A (p.Gly1447=)
c.1779T>A
n.7063T>A
c.7047T>A (p.Gly2349=)
c.6969T>A (p.Gly2323=)
c.4353T>A (p.Gly1451=)
c.6954T>A (p.Gly2318=)
c.168T>A (p.Gly56=)
n.7066T>A
5g.90692703T>CCA445404521ADGRV1c.7050T>C (p.Gly2350=)
c.265+16494T>C (n.265+16494T>C)
n.2509T>C
c.857T>C
n.194T>C
c.4341T>C (p.Gly1447=)
c.1779T>C
n.7063T>C
c.7047T>C (p.Gly2349=)
c.6969T>C (p.Gly2323=)
c.4353T>C (p.Gly1451=)
c.6954T>C (p.Gly2318=)
c.168T>C (p.Gly56=)
n.7066T>C
5g.90692703T>GCA445404520ADGRV1c.7050T>G (p.Gly2350=)
c.265+16494T>G (n.265+16494T>G)
n.2509T>G
c.857T>G
n.194T>G
c.4341T>G (p.Gly1447=)
c.1779T>G
n.7063T>G
c.7047T>G (p.Gly2349=)
c.6969T>G (p.Gly2323=)
c.4353T>G (p.Gly1451=)
c.6954T>G (p.Gly2318=)
c.168T>G (p.Gly56=)
n.7066T>G
5g.90692704A=CA1562859292ADGRV1c.7051A= (p.Thr2351=)
c.265+16495A= (n.265+16495A=)
n.2510A=
c.858A=
n.195A=
c.4342A= (p.Thr1448=)
c.1780A=
n.7064A=
c.7048A= (p.Thr2350=)
c.6970A= (p.Thr2324=)
c.4354A= (p.Thr1452=)
c.6955A= (p.Thr2319=)
c.169A= (p.Thr57=)
n.7067A=
5g.90692704A>CCA360371424ADGRV1c.7051A>C (p.Thr2351Pro)
c.265+16495A>C (n.265+16495A>C)
n.2510A>C
c.858A>C
n.195A>C
c.4342A>C (p.Thr1448Pro)
c.1780A>C
n.7064A>C
c.7048A>C (p.Thr2350Pro)
c.6970A>C (p.Thr2324Pro)
c.4354A>C (p.Thr1452Pro)
c.6955A>C (p.Thr2319Pro)
c.169A>C (p.Thr57Pro)
n.7067A>C
gnomAD v4
5g.90692704A>GCA360371426ADGRV1c.7051A>G (p.Thr2351Ala)
c.265+16495A>G (n.265+16495A>G)
n.2510A>G
c.858A>G
n.195A>G
c.4342A>G (p.Thr1448Ala)
c.1780A>G
n.7064A>G
c.7048A>G (p.Thr2350Ala)
c.6970A>G (p.Thr2324Ala)
c.4354A>G (p.Thr1452Ala)
c.6955A>G (p.Thr2319Ala)
c.169A>G (p.Thr57Ala)
n.7067A>G
5g.90692704A>TCA3339957ADGRV1c.7051A>T (p.Thr2351Ser)
c.265+16495A>T (n.265+16495A>T)
n.2510A>T
c.858A>T
n.195A>T
c.4342A>T (p.Thr1448Ser)
c.1780A>T
n.7064A>T
c.7048A>T (p.Thr2350Ser)
c.6970A>T (p.Thr2324Ser)
c.4354A>T (p.Thr1452Ser)
c.6955A>T (p.Thr2319Ser)
c.169A>T (p.Thr57Ser)
n.7067A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692705C>ACA360371440ADGRV1c.7052C>A (p.Thr2351Lys)
c.265+16496C>A (n.265+16496C>A)
n.2511C>A
c.859C>A
n.196C>A
c.4343C>A (p.Thr1448Lys)
c.1781C>A
n.7065C>A
c.7049C>A (p.Thr2350Lys)
c.6971C>A (p.Thr2324Lys)
c.4355C>A (p.Thr1452Lys)
c.6956C>A (p.Thr2319Lys)
c.170C>A (p.Thr57Lys)
n.7068C>A
5g.90692705C=CA1562859293ADGRV1c.7052C= (p.Thr2351=)
c.265+16496C= (n.265+16496C=)
n.2511C=
c.859C=
n.196C=
c.4343C= (p.Thr1448=)
c.1781C=
n.7065C=
c.7049C= (p.Thr2350=)
c.6971C= (p.Thr2324=)
c.4355C= (p.Thr1452=)
c.6956C= (p.Thr2319=)
c.170C= (p.Thr57=)
n.7068C=
5g.90692705C>GCA360371452ADGRV1c.7052C>G (p.Thr2351Arg)
c.265+16496C>G (n.265+16496C>G)
n.2511C>G
c.859C>G
n.196C>G
c.4343C>G (p.Thr1448Arg)
c.1781C>G
n.7065C>G
c.7049C>G (p.Thr2350Arg)
c.6971C>G (p.Thr2324Arg)
c.4355C>G (p.Thr1452Arg)
c.6956C>G (p.Thr2319Arg)
c.170C>G (p.Thr57Arg)
n.7068C>G
5g.90692705C>TCA360371443ADGRV1c.7052C>T (p.Thr2351Ile)
c.265+16496C>T (n.265+16496C>T)
n.2511C>T
c.859C>T
n.196C>T
c.4343C>T (p.Thr1448Ile)
c.1781C>T
n.7065C>T
c.7049C>T (p.Thr2350Ile)
c.6971C>T (p.Thr2324Ile)
c.4355C>T (p.Thr1452Ile)
c.6956C>T (p.Thr2319Ile)
c.170C>T (p.Thr57Ile)
n.7068C>T
dbSNP
5g.90692706A=CA1562859294ADGRV1c.7053A= (p.Thr2351=)
c.265+16497A= (n.265+16497A=)
n.2512A=
c.860A=
n.197A=
c.4344A= (p.Thr1448=)
c.1782A=
n.7066A=
c.7050A= (p.Thr2350=)
c.6972A= (p.Thr2324=)
c.4356A= (p.Thr1452=)
c.6957A= (p.Thr2319=)
c.171A= (p.Thr57=)
n.7069A=
5g.90692706A>CCA445404522ADGRV1c.7053A>C (p.Thr2351=)
c.265+16497A>C (n.265+16497A>C)
n.2512A>C
c.860A>C
n.197A>C
c.4344A>C (p.Thr1448=)
c.1782A>C
n.7066A>C
c.7050A>C (p.Thr2350=)
c.6972A>C (p.Thr2324=)
c.4356A>C (p.Thr1452=)
c.6957A>C (p.Thr2319=)
c.171A>C (p.Thr57=)
n.7069A>C
5g.90692706A>GCA445404523ADGRV1c.7053A>G (p.Thr2351=)
c.265+16497A>G (n.265+16497A>G)
n.2512A>G
c.860A>G
n.197A>G
c.4344A>G (p.Thr1448=)
c.1782A>G
n.7066A>G
c.7050A>G (p.Thr2350=)
c.6972A>G (p.Thr2324=)
c.4356A>G (p.Thr1452=)
c.6957A>G (p.Thr2319=)
c.171A>G (p.Thr57=)
n.7069A>G
gnomAD v4
5g.90692706A>TCA3339958ADGRV1c.7053A>T (p.Thr2351=)
c.265+16497A>T (n.265+16497A>T)
n.2512A>T
c.860A>T
n.197A>T
c.4344A>T (p.Thr1448=)
c.1782A>T
n.7066A>T
c.7050A>T (p.Thr2350=)
c.6972A>T (p.Thr2324=)
c.4356A>T (p.Thr1452=)
c.6957A>T (p.Thr2319=)
c.171A>T (p.Thr57=)
n.7069A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692707G>ACA3339959ADGRV1c.7054G>A (p.Val2352Ile)
c.265+16498G>A (n.265+16498G>A)
n.2513G>A
c.861G>A
n.198G>A
c.4345G>A (p.Val1449Ile)
c.1783G>A
n.7067G>A
c.7051G>A (p.Val2351Ile)
c.6973G>A (p.Val2325Ile)
c.4357G>A (p.Val1453Ile)
c.6958G>A (p.Val2320Ile)
c.172G>A (p.Val58Ile)
n.7070G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692707G>CCA360371458ADGRV1c.7054G>C (p.Val2352Leu)
c.265+16498G>C (n.265+16498G>C)
n.2513G>C
c.861G>C
n.198G>C
c.4345G>C (p.Val1449Leu)
c.1783G>C
n.7067G>C
c.7051G>C (p.Val2351Leu)
c.6973G>C (p.Val2325Leu)
c.4357G>C (p.Val1453Leu)
c.6958G>C (p.Val2320Leu)
c.172G>C (p.Val58Leu)
n.7070G>C
5g.90692707G=CA1562859295ADGRV1c.7054G= (p.Val2352=)
c.265+16498G= (n.265+16498G=)
n.2513G=
c.861G=
n.198G=
c.4345G= (p.Val1449=)
c.1783G=
n.7067G=
c.7051G= (p.Val2351=)
c.6973G= (p.Val2325=)
c.4357G= (p.Val1453=)
c.6958G= (p.Val2320=)
c.172G= (p.Val58=)
n.7070G=
5g.90692707G>TCA360371460ADGRV1c.7054G>T (p.Val2352Leu)
c.265+16498G>T (n.265+16498G>T)
n.2513G>T
c.861G>T
n.198G>T
c.4345G>T (p.Val1449Leu)
c.1783G>T
n.7067G>T
c.7051G>T (p.Val2351Leu)
c.6973G>T (p.Val2325Leu)
c.4357G>T (p.Val1453Leu)
c.6958G>T (p.Val2320Leu)
c.172G>T (p.Val58Leu)
n.7070G>T
5g.90692708T>ACA360371465ADGRV1c.7055T>A (p.Val2352Glu)
c.265+16499T>A (n.265+16499T>A)
n.2514T>A
c.862T>A
n.199T>A
c.4346T>A (p.Val1449Glu)
c.1784T>A
n.7068T>A
c.7052T>A (p.Val2351Glu)
c.6974T>A (p.Val2325Glu)
c.4358T>A (p.Val1453Glu)
c.6959T>A (p.Val2320Glu)
c.173T>A (p.Val58Glu)
n.7071T>A
5g.90692708T>CCA360371467ADGRV1c.7055T>C (p.Val2352Ala)
c.265+16499T>C (n.265+16499T>C)
n.2514T>C
c.862T>C
n.199T>C
c.4346T>C (p.Val1449Ala)
c.1784T>C
n.7068T>C
c.7052T>C (p.Val2351Ala)
c.6974T>C (p.Val2325Ala)
c.4358T>C (p.Val1453Ala)
c.6959T>C (p.Val2320Ala)
c.173T>C (p.Val58Ala)
n.7071T>C
dbSNP gnomAD v2 gnomAD v4
5g.90692708T>GCA360371470ADGRV1c.7055T>G (p.Val2352Gly)
c.265+16499T>G (n.265+16499T>G)
n.2514T>G
c.862T>G
n.199T>G
c.4346T>G (p.Val1449Gly)
c.1784T>G
n.7068T>G
c.7052T>G (p.Val2351Gly)
c.6974T>G (p.Val2325Gly)
c.4358T>G (p.Val1453Gly)
c.6959T>G (p.Val2320Gly)
c.173T>G (p.Val58Gly)
n.7071T>G
5g.90692708T=CA1562859296ADGRV1c.7055T= (p.Val2352=)
c.265+16499T= (n.265+16499T=)
n.2514T=
c.862T=
n.199T=
c.4346T= (p.Val1449=)
c.1784T=
n.7068T=
c.7052T= (p.Val2351=)
c.6974T= (p.Val2325=)
c.4358T= (p.Val1453=)
c.6959T= (p.Val2320=)
c.173T= (p.Val58=)
n.7071T=
5g.90692709A>CCA445404524ADGRV1c.7056A>C (p.Val2352=)
c.265+16500A>C (n.265+16500A>C)
n.2515A>C
c.863A>C
n.200A>C
c.4347A>C (p.Val1449=)
c.1785A>C
n.7069A>C
c.7053A>C (p.Val2351=)
c.6975A>C (p.Val2325=)
c.4359A>C (p.Val1453=)
c.6960A>C (p.Val2320=)
c.174A>C (p.Val58=)
n.7072A>C
5g.90692709A>GCA445404525ADGRV1c.7056A>G (p.Val2352=)
c.265+16500A>G (n.265+16500A>G)
n.2515A>G
c.863A>G
n.200A>G
c.4347A>G (p.Val1449=)
c.1785A>G
n.7069A>G
c.7053A>G (p.Val2351=)
c.6975A>G (p.Val2325=)
c.4359A>G (p.Val1453=)
c.6960A>G (p.Val2320=)
c.174A>G (p.Val58=)
n.7072A>G
5g.90692709A>TCA445404526ADGRV1c.7056A>T (p.Val2352=)
c.265+16500A>T (n.265+16500A>T)
n.2515A>T
c.863A>T
n.200A>T
c.4347A>T (p.Val1449=)
c.1785A>T
n.7069A>T
c.7053A>T (p.Val2351=)
c.6975A>T (p.Val2325=)
c.4359A>T (p.Val1453=)
c.6960A>T (p.Val2320=)
c.174A>T (p.Val58=)
n.7072A>T
5g.90692710G>ACA360371476ADGRV1c.7057G>A (p.Ala2353Thr)
c.265+16501G>A (n.265+16501G>A)
n.2516G>A
c.864G>A
n.201G>A
c.4348G>A (p.Ala1450Thr)
c.1786G>A
n.7070G>A
c.7054G>A (p.Ala2352Thr)
c.6976G>A (p.Ala2326Thr)
c.4360G>A (p.Ala1454Thr)
c.6961G>A (p.Ala2321Thr)
c.175G>A (p.Ala59Thr)
n.7073G>A
5g.90692710G>CCA360371478ADGRV1c.7057G>C (p.Ala2353Pro)
c.265+16501G>C (n.265+16501G>C)
n.2516G>C
c.864G>C
n.201G>C
c.4348G>C (p.Ala1450Pro)
c.1786G>C
n.7070G>C
c.7054G>C (p.Ala2352Pro)
c.6976G>C (p.Ala2326Pro)
c.4360G>C (p.Ala1454Pro)
c.6961G>C (p.Ala2321Pro)
c.175G>C (p.Ala59Pro)
n.7073G>C
5g.90692710G>TCA360371479ADGRV1c.7057G>T (p.Ala2353Ser)
c.265+16501G>T (n.265+16501G>T)
n.2516G>T
c.864G>T
n.201G>T
c.4348G>T (p.Ala1450Ser)
c.1786G>T
n.7070G>T
c.7054G>T (p.Ala2352Ser)
c.6976G>T (p.Ala2326Ser)
c.4360G>T (p.Ala1454Ser)
c.6961G>T (p.Ala2321Ser)
c.175G>T (p.Ala59Ser)
n.7073G>T
5g.90692711C>ACA360371481ADGRV1c.7058C>A (p.Ala2353Asp)
c.265+16502C>A (n.265+16502C>A)
n.2517C>A
c.865C>A
n.202C>A
c.4349C>A (p.Ala1450Asp)
c.1787C>A
n.7071C>A
c.7055C>A (p.Ala2352Asp)
c.6977C>A (p.Ala2326Asp)
c.4361C>A (p.Ala1454Asp)
c.6962C>A (p.Ala2321Asp)
c.176C>A (p.Ala59Asp)
n.7074C>A
5g.90692711C>GCA360371483ADGRV1c.7058C>G (p.Ala2353Gly)
c.265+16502C>G (n.265+16502C>G)
n.2517C>G
c.865C>G
n.202C>G
c.4349C>G (p.Ala1450Gly)
c.1787C>G
n.7071C>G
c.7055C>G (p.Ala2352Gly)
c.6977C>G (p.Ala2326Gly)
c.4361C>G (p.Ala1454Gly)
c.6962C>G (p.Ala2321Gly)
c.176C>G (p.Ala59Gly)
n.7074C>G
5g.90692711C>TCA360371489ADGRV1c.7058C>T (p.Ala2353Val)
c.265+16502C>T (n.265+16502C>T)
n.2517C>T
c.865C>T
n.202C>T
c.4349C>T (p.Ala1450Val)
c.1787C>T
n.7071C>T
c.7055C>T (p.Ala2352Val)
c.6977C>T (p.Ala2326Val)
c.4361C>T (p.Ala1454Val)
c.6962C>T (p.Ala2321Val)
c.176C>T (p.Ala59Val)
n.7074C>T
5g.90692712C>ACA445404529ADGRV1c.7059C>A (p.Ala2353=)
c.265+16503C>A (n.265+16503C>A)
n.2518C>A
c.866C>A
n.203C>A
c.4350C>A (p.Ala1450=)
c.1788C>A
n.7072C>A
c.7056C>A (p.Ala2352=)
c.6978C>A (p.Ala2326=)
c.4362C>A (p.Ala1454=)
c.6963C>A (p.Ala2321=)
c.177C>A (p.Ala59=)
n.7075C>A
gnomAD v4
5g.90692712C>GCA445404527ADGRV1c.7059C>G (p.Ala2353=)
c.265+16503C>G (n.265+16503C>G)
n.2518C>G
c.866C>G
n.203C>G
c.4350C>G (p.Ala1450=)
c.1788C>G
n.7072C>G
c.7056C>G (p.Ala2352=)
c.6978C>G (p.Ala2326=)
c.4362C>G (p.Ala1454=)
c.6963C>G (p.Ala2321=)
c.177C>G (p.Ala59=)
n.7075C>G
5g.90692712C>TCA445404528ADGRV1c.7059C>T (p.Ala2353=)
c.265+16503C>T (n.265+16503C>T)
n.2518C>T
c.866C>T
n.203C>T
c.4350C>T (p.Ala1450=)
c.1788C>T
n.7072C>T
c.7056C>T (p.Ala2352=)
c.6978C>T (p.Ala2326=)
c.4362C>T (p.Ala1454=)
c.6963C>T (p.Ala2321=)
c.177C>T (p.Ala59=)
n.7075C>T
5g.90692713T>ACA360371497ADGRV1c.7060T>A (p.Phe2354Ile)
c.265+16504T>A (n.265+16504T>A)
n.2519T>A
c.867T>A
n.204T>A
c.4351T>A (p.Phe1451Ile)
c.1789T>A
n.7073T>A
c.7057T>A (p.Phe2353Ile)
c.6979T>A (p.Phe2327Ile)
c.4363T>A (p.Phe1455Ile)
c.6964T>A (p.Phe2322Ile)
c.178T>A (p.Phe60Ile)
n.7076T>A
5g.90692713T>CCA360371496ADGRV1c.7060T>C (p.Phe2354Leu)
c.265+16504T>C (n.265+16504T>C)
n.2519T>C
c.867T>C
n.204T>C
c.4351T>C (p.Phe1451Leu)
c.1789T>C
n.7073T>C
c.7057T>C (p.Phe2353Leu)
c.6979T>C (p.Phe2327Leu)
c.4363T>C (p.Phe1455Leu)
c.6964T>C (p.Phe2322Leu)
c.178T>C (p.Phe60Leu)
n.7076T>C
5g.90692713T>GCA360371495ADGRV1c.7060T>G (p.Phe2354Val)
c.265+16504T>G (n.265+16504T>G)
n.2519T>G
c.867T>G
n.204T>G
c.4351T>G (p.Phe1451Val)
c.1789T>G
n.7073T>G
c.7057T>G (p.Phe2353Val)
c.6979T>G (p.Phe2327Val)
c.4363T>G (p.Phe1455Val)
c.6964T>G (p.Phe2322Val)
c.178T>G (p.Phe60Val)
n.7076T>G
5g.90692714T>ACA360371500ADGRV1c.7061T>A (p.Phe2354Tyr)
c.265+16505T>A (n.265+16505T>A)
n.2520T>A
c.868T>A
n.205T>A
c.4352T>A (p.Phe1451Tyr)
c.1790T>A
n.7074T>A
c.7058T>A (p.Phe2353Tyr)
c.6980T>A (p.Phe2327Tyr)
c.4364T>A (p.Phe1455Tyr)
c.6965T>A (p.Phe2322Tyr)
c.179T>A (p.Phe60Tyr)
n.7077T>A
5g.90692714T>CCA360371501ADGRV1c.7061T>C (p.Phe2354Ser)
c.265+16505T>C (n.265+16505T>C)
n.2520T>C
c.868T>C
n.205T>C
c.4352T>C (p.Phe1451Ser)
c.1790T>C
n.7074T>C
c.7058T>C (p.Phe2353Ser)
c.6980T>C (p.Phe2327Ser)
c.4364T>C (p.Phe1455Ser)
c.6965T>C (p.Phe2322Ser)
c.179T>C (p.Phe60Ser)
n.7077T>C
5g.90692714T>GCA360371502ADGRV1c.7061T>G (p.Phe2354Cys)
c.265+16505T>G (n.265+16505T>G)
n.2520T>G
c.868T>G
n.205T>G
c.4352T>G (p.Phe1451Cys)
c.1790T>G
n.7074T>G
c.7058T>G (p.Phe2353Cys)
c.6980T>G (p.Phe2327Cys)
c.4364T>G (p.Phe1455Cys)
c.6965T>G (p.Phe2322Cys)
c.179T>G (p.Phe60Cys)
n.7077T>G
5g.90692715T>ACA360371503ADGRV1c.7062T>A (p.Phe2354Leu)
c.265+16506T>A (n.265+16506T>A)
n.2521T>A
c.869T>A
n.206T>A
c.4353T>A (p.Phe1451Leu)
c.1791T>A
n.7075T>A
c.7059T>A (p.Phe2353Leu)
c.6981T>A (p.Phe2327Leu)
c.4365T>A (p.Phe1455Leu)
c.6966T>A (p.Phe2322Leu)
c.180T>A (p.Phe60Leu)
n.7078T>A
5g.90692715T>CCA445404533ADGRV1c.7062T>C (p.Phe2354=)
c.265+16506T>C (n.265+16506T>C)
n.2521T>C
c.869T>C
n.206T>C
c.4353T>C (p.Phe1451=)
c.1791T>C
n.7075T>C
c.7059T>C (p.Phe2353=)
c.6981T>C (p.Phe2327=)
c.4365T>C (p.Phe1455=)
c.6966T>C (p.Phe2322=)
c.180T>C (p.Phe60=)
n.7078T>C
5g.90692715T>GCA360371511ADGRV1c.7062T>G (p.Phe2354Leu)
c.265+16506T>G (n.265+16506T>G)
n.2521T>G
c.869T>G
n.206T>G
c.4353T>G (p.Phe1451Leu)
c.1791T>G
n.7075T>G
c.7059T>G (p.Phe2353Leu)
c.6981T>G (p.Phe2327Leu)
c.4365T>G (p.Phe1455Leu)
c.6966T>G (p.Phe2322Leu)
c.180T>G (p.Phe60Leu)
n.7078T>G
5g.90692716G>ACA360371519ADGRV1c.7063G>A (p.Ala2355Thr)
c.265+16507G>A (n.265+16507G>A)
n.2522G>A
c.870G>A
n.207G>A
c.4354G>A (p.Ala1452Thr)
c.1792G>A
n.7076G>A
c.7060G>A (p.Ala2354Thr)
c.6982G>A (p.Ala2328Thr)
c.4366G>A (p.Ala1456Thr)
c.6967G>A (p.Ala2323Thr)
c.181G>A (p.Ala61Thr)
n.7079G>A
5g.90692716G>CCA360371522ADGRV1c.7063G>C (p.Ala2355Pro)
c.265+16507G>C (n.265+16507G>C)
n.2522G>C
c.870G>C
n.207G>C
c.4354G>C (p.Ala1452Pro)
c.1792G>C
n.7076G>C
c.7060G>C (p.Ala2354Pro)
c.6982G>C (p.Ala2328Pro)
c.4366G>C (p.Ala1456Pro)
c.6967G>C (p.Ala2323Pro)
c.181G>C (p.Ala61Pro)
n.7079G>C
5g.90692716G>TCA360371525ADGRV1c.7063G>T (p.Ala2355Ser)
c.265+16507G>T (n.265+16507G>T)
n.2522G>T
c.870G>T
n.207G>T
c.4354G>T (p.Ala1452Ser)
c.1792G>T
n.7076G>T
c.7060G>T (p.Ala2354Ser)
c.6982G>T (p.Ala2328Ser)
c.4366G>T (p.Ala1456Ser)
c.6967G>T (p.Ala2323Ser)
c.181G>T (p.Ala61Ser)
n.7079G>T
5g.90692717C>ACA360371531ADGRV1c.7064C>A (p.Ala2355Asp)
c.265+16508C>A (n.265+16508C>A)
n.2523C>A
c.871C>A
n.208C>A
c.4355C>A (p.Ala1452Asp)
c.1793C>A
n.7077C>A
c.7061C>A (p.Ala2354Asp)
c.6983C>A (p.Ala2328Asp)
c.4367C>A (p.Ala1456Asp)
c.6968C>A (p.Ala2323Asp)
c.182C>A (p.Ala61Asp)
n.7080C>A
dbSNP gnomAD v4
5g.90692717C=CA1562859297ADGRV1c.7064C= (p.Ala2355=)
c.265+16508C= (n.265+16508C=)
n.2523C=
c.871C=
n.208C=
c.4355C= (p.Ala1452=)
c.1793C=
n.7077C=
c.7061C= (p.Ala2354=)
c.6983C= (p.Ala2328=)
c.4367C= (p.Ala1456=)
c.6968C= (p.Ala2323=)
c.182C= (p.Ala61=)
n.7080C=
5g.90692717C>GCA360371534ADGRV1c.7064C>G (p.Ala2355Gly)
c.265+16508C>G (n.265+16508C>G)
n.2523C>G
c.871C>G
n.208C>G
c.4355C>G (p.Ala1452Gly)
c.1793C>G
n.7077C>G
c.7061C>G (p.Ala2354Gly)
c.6983C>G (p.Ala2328Gly)
c.4367C>G (p.Ala1456Gly)
c.6968C>G (p.Ala2323Gly)
c.182C>G (p.Ala61Gly)
n.7080C>G
5g.90692717C>TCA122797189ADGRV1c.7064C>T (p.Ala2355Val)
c.265+16508C>T (n.265+16508C>T)
n.2523C>T
c.871C>T
n.208C>T
c.4355C>T (p.Ala1452Val)
c.1793C>T
n.7077C>T
c.7061C>T (p.Ala2354Val)
c.6983C>T (p.Ala2328Val)
c.4367C>T (p.Ala1456Val)
c.6968C>T (p.Ala2323Val)
c.182C>T (p.Ala61Val)
n.7080C>T
dbSNP
5g.90692718T>ACA445404534ADGRV1c.7065T>A (p.Ala2355=)
c.265+16509T>A (n.265+16509T>A)
n.2524T>A
c.872T>A
n.209T>A
c.4356T>A (p.Ala1452=)
c.1794T>A
n.7078T>A
c.7062T>A (p.Ala2354=)
c.6984T>A (p.Ala2328=)
c.4368T>A (p.Ala1456=)
c.6969T>A (p.Ala2323=)
c.183T>A (p.Ala61=)
n.7081T>A
5g.90692718T>CCA3339960ADGRV1c.7065T>C (p.Ala2355=)
c.265+16509T>C (n.265+16509T>C)
n.2524T>C
c.872T>C
n.209T>C
c.4356T>C (p.Ala1452=)
c.1794T>C
n.7078T>C
c.7062T>C (p.Ala2354=)
c.6984T>C (p.Ala2328=)
c.4368T>C (p.Ala1456=)
c.6969T>C (p.Ala2323=)
c.183T>C (p.Ala61=)
n.7081T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692718T>GCA445404535ADGRV1c.7065T>G (p.Ala2355=)
c.265+16509T>G (n.265+16509T>G)
n.2524T>G
c.872T>G
n.209T>G
c.4356T>G (p.Ala1452=)
c.1794T>G
n.7078T>G
c.7062T>G (p.Ala2354=)
c.6984T>G (p.Ala2328=)
c.4368T>G (p.Ala1456=)
c.6969T>G (p.Ala2323=)
c.183T>G (p.Ala61=)
n.7081T>G
5g.90692718T=CA1562859298ADGRV1c.7065T= (p.Ala2355=)
c.265+16509T= (n.265+16509T=)
n.2524T=
c.872T=
n.209T=
c.4356T= (p.Ala1452=)
c.1794T=
n.7078T=
c.7062T= (p.Ala2354=)
c.6984T= (p.Ala2328=)
c.4368T= (p.Ala1456=)
c.6969T= (p.Ala2323=)
c.183T= (p.Ala61=)
n.7081T=
5g.90692719delCA2697546299ADGRV1c.7066del (p.Gln2356ArgfsTer18)
c.265+16510del (n.265+16510del)
n.2525del
c.873del
n.210del
c.4357del (p.Gln1453ArgfsTer18)
c.1795del
n.7079del
c.7063del (p.Gln2355ArgfsTer18)
c.6985del (p.Gln2329ArgfsTer18)
c.4369del (p.Gln1457ArgfsTer18)
c.6970del (p.Gln2324ArgfsTer18)
c.184del (p.Gln62ArgfsTer18)
n.7082del
ClinVar
5g.90692719C>ACA360371548ADGRV1c.7066C>A (p.Gln2356Lys)
c.265+16510C>A (n.265+16510C>A)
n.2525C>A
c.873C>A
n.210C>A
c.4357C>A (p.Gln1453Lys)
c.1795C>A
n.7079C>A
c.7063C>A (p.Gln2355Lys)
c.6985C>A (p.Gln2329Lys)
c.4369C>A (p.Gln1457Lys)
c.6970C>A (p.Gln2324Lys)
c.184C>A (p.Gln62Lys)
n.7082C>A
5g.90692719C=CA1562859299ADGRV1c.7066C= (p.Gln2356=)
c.265+16510C= (n.265+16510C=)
n.2525C=
c.873C=
n.210C=
c.4357C= (p.Gln1453=)
c.1795C=
n.7079C=
c.7063C= (p.Gln2355=)
c.6985C= (p.Gln2329=)
c.4369C= (p.Gln1457=)
c.6970C= (p.Gln2324=)
c.184C= (p.Gln62=)
n.7082C=
5g.90692719C>GCA360371550ADGRV1c.7066C>G (p.Gln2356Glu)
c.265+16510C>G (n.265+16510C>G)
n.2525C>G
c.873C>G
n.210C>G
c.4357C>G (p.Gln1453Glu)
c.1795C>G
n.7079C>G
c.7063C>G (p.Gln2355Glu)
c.6985C>G (p.Gln2329Glu)
c.4369C>G (p.Gln1457Glu)
c.6970C>G (p.Gln2324Glu)
c.184C>G (p.Gln62Glu)
n.7082C>G
5g.90692719C>TCA360371547ADGRV1c.7066C>T (p.Gln2356Ter)
c.265+16510C>T (n.265+16510C>T)
n.2525C>T
c.873C>T
n.210C>T
c.4357C>T (p.Gln1453Ter)
c.1795C>T
n.7079C>T
c.7063C>T (p.Gln2355Ter)
c.6985C>T (p.Gln2329Ter)
c.4369C>T (p.Gln1457Ter)
c.6970C>T (p.Gln2324Ter)
c.184C>T (p.Gln62Ter)
n.7082C>T
dbSNP gnomAD v2 gnomAD v4
5g.90692720A>CCA360371553ADGRV1c.7067A>C (p.Gln2356Pro)
c.265+16511A>C (n.265+16511A>C)
n.2526A>C
c.874A>C
n.211A>C
c.4358A>C (p.Gln1453Pro)
c.1796A>C
n.7080A>C
c.7064A>C (p.Gln2355Pro)
c.6986A>C (p.Gln2329Pro)
c.4370A>C (p.Gln1457Pro)
c.6971A>C (p.Gln2324Pro)
c.185A>C (p.Gln62Pro)
n.7083A>C
5g.90692720A>GCA360371561ADGRV1c.7067A>G (p.Gln2356Arg)
c.265+16511A>G (n.265+16511A>G)
n.2526A>G
c.874A>G
n.211A>G
c.4358A>G (p.Gln1453Arg)
c.1796A>G
n.7080A>G
c.7064A>G (p.Gln2355Arg)
c.6986A>G (p.Gln2329Arg)
c.4370A>G (p.Gln1457Arg)
c.6971A>G (p.Gln2324Arg)
c.185A>G (p.Gln62Arg)
n.7083A>G
5g.90692720A>TCA360371566ADGRV1c.7067A>T (p.Gln2356Leu)
c.265+16511A>T (n.265+16511A>T)
n.2526A>T
c.874A>T
n.211A>T
c.4358A>T (p.Gln1453Leu)
c.1796A>T
n.7080A>T
c.7064A>T (p.Gln2355Leu)
c.6986A>T (p.Gln2329Leu)
c.4370A>T (p.Gln1457Leu)
c.6971A>T (p.Gln2324Leu)
c.185A>T (p.Gln62Leu)
n.7083A>T
5g.90692721G>ACA445404538ADGRV1c.7068G>A (p.Gln2356=)
c.265+16512G>A (n.265+16512G>A)
n.2527G>A
c.875G>A
n.212G>A
c.4359G>A (p.Gln1453=)
c.1797G>A
n.7081G>A
c.7065G>A (p.Gln2355=)
c.6987G>A (p.Gln2329=)
c.4371G>A (p.Gln1457=)
c.6972G>A (p.Gln2324=)
c.186G>A (p.Gln62=)
n.7084G>A
dbSNP gnomAD v4
5g.90692721G>CCA360371571ADGRV1c.7068G>C (p.Gln2356His)
c.265+16512G>C (n.265+16512G>C)
n.2527G>C
c.875G>C
n.212G>C
c.4359G>C (p.Gln1453His)
c.1797G>C
n.7081G>C
c.7065G>C (p.Gln2355His)
c.6987G>C (p.Gln2329His)
c.4371G>C (p.Gln1457His)
c.6972G>C (p.Gln2324His)
c.186G>C (p.Gln62His)
n.7084G>C
5g.90692721G=CA1562859300ADGRV1c.7068G= (p.Gln2356=)
c.265+16512G= (n.265+16512G=)
n.2527G=
c.875G=
n.212G=
c.4359G= (p.Gln1453=)
c.1797G=
n.7081G=
c.7065G= (p.Gln2355=)
c.6987G= (p.Gln2329=)
c.4371G= (p.Gln1457=)
c.6972G= (p.Gln2324=)
c.186G= (p.Gln62=)
n.7084G=
5g.90692721G>TCA360371573ADGRV1c.7068G>T (p.Gln2356His)
c.265+16512G>T (n.265+16512G>T)
n.2527G>T
c.875G>T
n.212G>T
c.4359G>T (p.Gln1453His)
c.1797G>T
n.7081G>T
c.7065G>T (p.Gln2355His)
c.6987G>T (p.Gln2329His)
c.4371G>T (p.Gln1457His)
c.6972G>T (p.Gln2324His)
c.186G>T (p.Gln62His)
n.7084G>T
5g.90692722A=CA1562859301ADGRV1c.7069A= (p.Met2357=)
c.265+16513A= (n.265+16513A=)
n.2528A=
c.876A=
n.213A=
c.4360A= (p.Met1454=)
c.1798A=
n.7082A=
c.7066A= (p.Met2356=)
c.6988A= (p.Met2330=)
c.4372A= (p.Met1458=)
c.6973A= (p.Met2325=)
c.187A= (p.Met63=)
n.7085A=
5g.90692722A>CCA360371576ADGRV1c.7069A>C (p.Met2357Leu)
c.265+16513A>C (n.265+16513A>C)
n.2528A>C
c.876A>C
n.213A>C
c.4360A>C (p.Met1454Leu)
c.1798A>C
n.7082A>C
c.7066A>C (p.Met2356Leu)
c.6988A>C (p.Met2330Leu)
c.4372A>C (p.Met1458Leu)
c.6973A>C (p.Met2325Leu)
c.187A>C (p.Met63Leu)
n.7085A>C
5g.90692722A>GCA122797190ADGRV1c.7069A>G (p.Met2357Val)
c.265+16513A>G (n.265+16513A>G)
n.2528A>G
c.876A>G
n.213A>G
c.4360A>G (p.Met1454Val)
c.1798A>G
n.7082A>G
c.7066A>G (p.Met2356Val)
c.6988A>G (p.Met2330Val)
c.4372A>G (p.Met1458Val)
c.6973A>G (p.Met2325Val)
c.187A>G (p.Met63Val)
n.7085A>G
dbSNP
5g.90692722A>TCA3339961ADGRV1c.7069A>T (p.Met2357Leu)
c.265+16513A>T (n.265+16513A>T)
n.2528A>T
c.876A>T
n.213A>T
c.4360A>T (p.Met1454Leu)
c.1798A>T
n.7082A>T
c.7066A>T (p.Met2356Leu)
c.6988A>T (p.Met2330Leu)
c.4372A>T (p.Met1458Leu)
c.6973A>T (p.Met2325Leu)
c.187A>T (p.Met63Leu)
n.7085A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692723T>ACA360371578ADGRV1c.7070T>A (p.Met2357Lys)
c.265+16514T>A (n.265+16514T>A)
n.2529T>A
c.877T>A
n.214T>A
c.4361T>A (p.Met1454Lys)
c.1799T>A
n.7083T>A
c.7067T>A (p.Met2356Lys)
c.6989T>A (p.Met2330Lys)
c.4373T>A (p.Met1458Lys)
c.6974T>A (p.Met2325Lys)
c.188T>A (p.Met63Lys)
n.7086T>A
gnomAD v4
5g.90692723T>CCA360371581ADGRV1c.7070T>C (p.Met2357Thr)
c.265+16514T>C (n.265+16514T>C)
n.2529T>C
c.877T>C
n.214T>C
c.4361T>C (p.Met1454Thr)
c.1799T>C
n.7083T>C
c.7067T>C (p.Met2356Thr)
c.6989T>C (p.Met2330Thr)
c.4373T>C (p.Met1458Thr)
c.6974T>C (p.Met2325Thr)
c.188T>C (p.Met63Thr)
n.7086T>C
dbSNP
5g.90692723T>GCA360371585ADGRV1c.7070T>G (p.Met2357Arg)
c.265+16514T>G (n.265+16514T>G)
n.2529T>G
c.877T>G
n.214T>G
c.4361T>G (p.Met1454Arg)
c.1799T>G
n.7083T>G
c.7067T>G (p.Met2356Arg)
c.6989T>G (p.Met2330Arg)
c.4373T>G (p.Met1458Arg)
c.6974T>G (p.Met2325Arg)
c.188T>G (p.Met63Arg)
n.7086T>G
5g.90692724G>ACA3339962ADGRV1c.7071G>A (p.Met2357Ile)
c.265+16515G>A (n.265+16515G>A)
n.2530G>A
c.878G>A
n.215G>A
c.4362G>A (p.Met1454Ile)
c.1800G>A
n.7084G>A
c.7068G>A (p.Met2356Ile)
c.6990G>A (p.Met2330Ile)
c.4374G>A (p.Met1458Ile)
c.6975G>A (p.Met2325Ile)
c.189G>A (p.Met63Ile)
n.7087G>A
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692724G>CCA360371592ADGRV1c.7071G>C (p.Met2357Ile)
c.265+16515G>C (n.265+16515G>C)
n.2530G>C
c.878G>C
n.215G>C
c.4362G>C (p.Met1454Ile)
c.1800G>C
n.7084G>C
c.7068G>C (p.Met2356Ile)
c.6990G>C (p.Met2330Ile)
c.4374G>C (p.Met1458Ile)
c.6975G>C (p.Met2325Ile)
c.189G>C (p.Met63Ile)
n.7087G>C
dbSNP gnomAD v2 gnomAD v4
5g.90692724G=CA1562859303ADGRV1c.7071G= (p.Met2357=)
c.265+16515G= (n.265+16515G=)
n.2530G=
c.878G=
n.215G=
c.4362G= (p.Met1454=)
c.1800G=
n.7084G=
c.7068G= (p.Met2356=)
c.6990G= (p.Met2330=)
c.4374G= (p.Met1458=)
c.6975G= (p.Met2325=)
c.189G= (p.Met63=)
n.7087G=
5g.90692724G>TCA360371597ADGRV1c.7071G>T (p.Met2357Ile)
c.265+16515G>T (n.265+16515G>T)
n.2530G>T
c.878G>T
n.215G>T
c.4362G>T (p.Met1454Ile)
c.1800G>T
n.7084G>T
c.7068G>T (p.Met2356Ile)
c.6990G>T (p.Met2330Ile)
c.4374G>T (p.Met1458Ile)
c.6975G>T (p.Met2325Ile)
c.189G>T (p.Met63Ile)
n.7087G>T
5g.90692724_90692726delinsGGTCA1562859302ADGRV1c.7071_7073delinsGGT (p.Met2357=)
c.265+16515_265+16517delinsGGT (n.265+16515_265+16517delinsGGT)
n.2530_2532delinsGGT
c.878_880delinsGGT
n.215_217delinsGGT
c.4362_4364delinsGGT (p.Met1454=)
c.1800_1802delinsGGT
n.7084_7086delinsGGT
c.7068_7070delinsGGT (p.Met2356=)
c.6990_6992delinsGGT (p.Met2330=)
c.4374_4376delinsGGT (p.Met1458=)
c.6975_6977delinsGGT (p.Met2325=)
c.189_191delinsGGT (p.Met63=)
n.7087_7089delinsGGT
5g.90692725G>ACA360371599ADGRV1c.7072G>A (p.Val2358Ile)
c.265+16516G>A (n.265+16516G>A)
n.2531G>A
c.879G>A
n.216G>A
c.4363G>A (p.Val1455Ile)
c.1801G>A
n.7085G>A
c.7069G>A (p.Val2357Ile)
c.6991G>A (p.Val2331Ile)
c.4375G>A (p.Val1459Ile)
c.6976G>A (p.Val2326Ile)
c.190G>A (p.Val64Ile)
n.7088G>A
dbSNP gnomAD v4
5g.90692725G>CCA360371606ADGRV1c.7072G>C (p.Val2358Leu)
c.265+16516G>C (n.265+16516G>C)
n.2531G>C
c.879G>C
n.216G>C
c.4363G>C (p.Val1455Leu)
c.1801G>C
n.7085G>C
c.7069G>C (p.Val2357Leu)
c.6991G>C (p.Val2331Leu)
c.4375G>C (p.Val1459Leu)
c.6976G>C (p.Val2326Leu)
c.190G>C (p.Val64Leu)
n.7088G>C
5g.90692725G=CA1562859305ADGRV1c.7072G= (p.Val2358=)
c.265+16516G= (n.265+16516G=)
n.2531G=
c.879G=
n.216G=
c.4363G= (p.Val1455=)
c.1801G=
n.7085G=
c.7069G= (p.Val2357=)
c.6991G= (p.Val2331=)
c.4375G= (p.Val1459=)
c.6976G= (p.Val2326=)
c.190G= (p.Val64=)
n.7088G=
5g.90692725G>TCA360371602ADGRV1c.7072G>T (p.Val2358Phe)
c.265+16516G>T (n.265+16516G>T)
n.2531G>T
c.879G>T
n.216G>T
c.4363G>T (p.Val1455Phe)
c.1801G>T
n.7085G>T
c.7069G>T (p.Val2357Phe)
c.6991G>T (p.Val2331Phe)
c.4375G>T (p.Val1459Phe)
c.6976G>T (p.Val2326Phe)
c.190G>T (p.Val64Phe)
n.7088G>T
5g.90692725_90692726delCA1562859304ADGRV1c.7072_7073del (p.Val2358LeufsTer14)
c.265+16516_265+16517del (n.265+16516_265+16517del)
n.2531_2532del
c.879_880del
n.216_217del
c.4363_4364del (p.Val1455LeufsTer14)
c.1801_1802del
n.7085_7086del
c.7069_7070del (p.Val2357LeufsTer14)
c.6991_6992del (p.Val2331LeufsTer14)
c.4375_4376del (p.Val1459LeufsTer14)
c.6976_6977del (p.Val2326LeufsTer14)
c.190_191del (p.Val64LeufsTer14)
n.7088_7089del
dbSNP
5g.90692726T>ACA360371611ADGRV1c.7073T>A (p.Val2358Asp)
c.265+16517T>A (n.265+16517T>A)
n.2532T>A
c.880T>A
n.217T>A
c.4364T>A (p.Val1455Asp)
c.1802T>A
n.7086T>A
c.7070T>A (p.Val2357Asp)
c.6992T>A (p.Val2331Asp)
c.4376T>A (p.Val1459Asp)
c.6977T>A (p.Val2326Asp)
c.191T>A (p.Val64Asp)
n.7089T>A
5g.90692726T>CCA360371612ADGRV1c.7073T>C (p.Val2358Ala)
c.265+16517T>C (n.265+16517T>C)
n.2532T>C
c.880T>C
n.217T>C
c.4364T>C (p.Val1455Ala)
c.1802T>C
n.7086T>C
c.7070T>C (p.Val2357Ala)
c.6992T>C (p.Val2331Ala)
c.4376T>C (p.Val1459Ala)
c.6977T>C (p.Val2326Ala)
c.191T>C (p.Val64Ala)
n.7089T>C
5g.90692726T>GCA360371618ADGRV1c.7073T>G (p.Val2358Gly)
c.265+16517T>G (n.265+16517T>G)
n.2532T>G
c.880T>G
n.217T>G
c.4364T>G (p.Val1455Gly)
c.1802T>G
n.7086T>G
c.7070T>G (p.Val2357Gly)
c.6992T>G (p.Val2331Gly)
c.4376T>G (p.Val1459Gly)
c.6977T>G (p.Val2326Gly)
c.191T>G (p.Val64Gly)
n.7089T>G
5g.90692727T>ACA445404543ADGRV1c.7074T>A (p.Val2358=)
c.265+16518T>A (n.265+16518T>A)
n.2533T>A
c.881T>A
n.218T>A
c.4365T>A (p.Val1455=)
c.1803T>A
n.7087T>A
c.7071T>A (p.Val2357=)
c.6993T>A (p.Val2331=)
c.4377T>A (p.Val1459=)
c.6978T>A (p.Val2326=)
c.192T>A (p.Val64=)
n.7090T>A
5g.90692727T>CCA445404544ADGRV1c.7074T>C (p.Val2358=)
c.265+16518T>C (n.265+16518T>C)
n.2533T>C
c.881T>C
n.218T>C
c.4365T>C (p.Val1455=)
c.1803T>C
n.7087T>C
c.7071T>C (p.Val2357=)
c.6993T>C (p.Val2331=)
c.4377T>C (p.Val1459=)
c.6978T>C (p.Val2326=)
c.192T>C (p.Val64=)
n.7090T>C
5g.90692727T>GCA445404545ADGRV1c.7074T>G (p.Val2358=)
c.265+16518T>G (n.265+16518T>G)
n.2533T>G
c.881T>G
n.218T>G
c.4365T>G (p.Val1455=)
c.1803T>G
n.7087T>G
c.7071T>G (p.Val2357=)
c.6993T>G (p.Val2331=)
c.4377T>G (p.Val1459=)
c.6978T>G (p.Val2326=)
c.192T>G (p.Val64=)
n.7090T>G
5g.90692728T>ACA360371621ADGRV1c.7075T>A (p.Tyr2359Asn)
c.265+16519T>A (n.265+16519T>A)
n.2534T>A
c.882T>A
n.219T>A
c.4366T>A (p.Tyr1456Asn)
c.1804T>A
n.7088T>A
c.7072T>A (p.Tyr2358Asn)
c.6994T>A (p.Tyr2332Asn)
c.4378T>A (p.Tyr1460Asn)
c.6979T>A (p.Tyr2327Asn)
c.193T>A (p.Tyr65Asn)
n.7091T>A
5g.90692728T>CCA360371622ADGRV1c.7075T>C (p.Tyr2359His)
c.265+16519T>C (n.265+16519T>C)
n.2534T>C
c.882T>C
n.219T>C
c.4366T>C (p.Tyr1456His)
c.1804T>C
n.7088T>C
c.7072T>C (p.Tyr2358His)
c.6994T>C (p.Tyr2332His)
c.4378T>C (p.Tyr1460His)
c.6979T>C (p.Tyr2327His)
c.193T>C (p.Tyr65His)
n.7091T>C
5g.90692728T>GCA360371623ADGRV1c.7075T>G (p.Tyr2359Asp)
c.265+16519T>G (n.265+16519T>G)
n.2534T>G
c.882T>G
n.219T>G
c.4366T>G (p.Tyr1456Asp)
c.1804T>G
n.7088T>G
c.7072T>G (p.Tyr2358Asp)
c.6994T>G (p.Tyr2332Asp)
c.4378T>G (p.Tyr1460Asp)
c.6979T>G (p.Tyr2327Asp)
c.193T>G (p.Tyr65Asp)
n.7091T>G
gnomAD v4
5g.90692729A=CA1562859306ADGRV1c.7076A= (p.Tyr2359=)
c.265+16520A= (n.265+16520A=)
n.2535A=
c.883A=
n.220A=
c.4367A= (p.Tyr1456=)
c.1805A=
n.7089A=
c.7073A= (p.Tyr2358=)
c.6995A= (p.Tyr2332=)
c.4379A= (p.Tyr1460=)
c.6980A= (p.Tyr2327=)
c.194A= (p.Tyr65=)
n.7092A=
5g.90692729A>CCA360371627ADGRV1c.7076A>C (p.Tyr2359Ser)
c.265+16520A>C (n.265+16520A>C)
n.2535A>C
c.883A>C
n.220A>C
c.4367A>C (p.Tyr1456Ser)
c.1805A>C
n.7089A>C
c.7073A>C (p.Tyr2358Ser)
c.6995A>C (p.Tyr2332Ser)
c.4379A>C (p.Tyr1460Ser)
c.6980A>C (p.Tyr2327Ser)
c.194A>C (p.Tyr65Ser)
n.7092A>C
5g.90692729A>GCA360371631ADGRV1c.7076A>G (p.Tyr2359Cys)
c.265+16520A>G (n.265+16520A>G)
n.2535A>G
c.883A>G
n.220A>G
c.4367A>G (p.Tyr1456Cys)
c.1805A>G
n.7089A>G
c.7073A>G (p.Tyr2358Cys)
c.6995A>G (p.Tyr2332Cys)
c.4379A>G (p.Tyr1460Cys)
c.6980A>G (p.Tyr2327Cys)
c.194A>G (p.Tyr65Cys)
n.7092A>G
5g.90692729A>TCA360371637ADGRV1c.7076A>T (p.Tyr2359Phe)
c.265+16520A>T (n.265+16520A>T)
n.2535A>T
c.883A>T
n.220A>T
c.4367A>T (p.Tyr1456Phe)
c.1805A>T
n.7089A>T
c.7073A>T (p.Tyr2358Phe)
c.6995A>T (p.Tyr2332Phe)
c.4379A>T (p.Tyr1460Phe)
c.6980A>T (p.Tyr2327Phe)
c.194A>T (p.Tyr65Phe)
n.7092A>T
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90692730T>ACA360371640ADGRV1c.7077T>A (p.Tyr2359Ter)
c.265+16521T>A (n.265+16521T>A)
n.2536T>A
c.884T>A
n.221T>A
c.4368T>A (p.Tyr1456Ter)
c.1806T>A
n.7090T>A
c.7074T>A (p.Tyr2358Ter)
c.6996T>A (p.Tyr2332Ter)
c.4380T>A (p.Tyr1460Ter)
c.6981T>A (p.Tyr2327Ter)
c.195T>A (p.Tyr65Ter)
n.7093T>A
5g.90692730T>CCA445404546ADGRV1c.7077T>C (p.Tyr2359=)
c.265+16521T>C (n.265+16521T>C)
n.2536T>C
c.884T>C
n.221T>C
c.4368T>C (p.Tyr1456=)
c.1806T>C
n.7090T>C
c.7074T>C (p.Tyr2358=)
c.6996T>C (p.Tyr2332=)
c.4380T>C (p.Tyr1460=)
c.6981T>C (p.Tyr2327=)
c.195T>C (p.Tyr65=)
n.7093T>C
5g.90692730T>GCA360371644ADGRV1c.7077T>G (p.Tyr2359Ter)
c.265+16521T>G (n.265+16521T>G)
n.2536T>G
c.884T>G
n.221T>G
c.4368T>G (p.Tyr1456Ter)
c.1806T>G
n.7090T>G
c.7074T>G (p.Tyr2358Ter)
c.6996T>G (p.Tyr2332Ter)
c.4380T>G (p.Tyr1460Ter)
c.6981T>G (p.Tyr2327Ter)
c.195T>G (p.Tyr65Ter)
n.7093T>G
5g.90692731C>ACA360371649ADGRV1c.7078C>A (p.Arg2360Ser)
c.265+16522C>A (n.265+16522C>A)
n.2537C>A
c.885C>A
n.222C>A
c.4369C>A (p.Arg1457Ser)
c.1807C>A
n.7091C>A
c.7075C>A (p.Arg2359Ser)
c.6997C>A (p.Arg2333Ser)
c.4381C>A (p.Arg1461Ser)
c.6982C>A (p.Arg2328Ser)
c.196C>A (p.Arg66Ser)
n.7094C>A
gnomAD v4
5g.90692731C=CA1562859309ADGRV1c.7078C= (p.Arg2360=)
c.265+16522C= (n.265+16522C=)
n.2537C=
c.885C=
n.222C=
c.4369C= (p.Arg1457=)
c.1807C=
n.7091C=
c.7075C= (p.Arg2359=)
c.6997C= (p.Arg2333=)
c.4381C= (p.Arg1461=)
c.6982C= (p.Arg2328=)
c.196C= (p.Arg66=)
n.7094C=
5g.90692731C>GCA360371663ADGRV1c.7078C>G (p.Arg2360Gly)
c.265+16522C>G (n.265+16522C>G)
n.2537C>G
c.885C>G
n.222C>G
c.4369C>G (p.Arg1457Gly)
c.1807C>G
n.7091C>G
c.7075C>G (p.Arg2359Gly)
c.6997C>G (p.Arg2333Gly)
c.4381C>G (p.Arg1461Gly)
c.6982C>G (p.Arg2328Gly)
c.196C>G (p.Arg66Gly)
n.7094C>G
5g.90692731C>TCA3339963ADGRV1c.7078C>T (p.Arg2360Cys)
c.265+16522C>T (n.265+16522C>T)
n.2537C>T
c.885C>T
n.222C>T
c.4369C>T (p.Arg1457Cys)
c.1807C>T
n.7091C>T
c.7075C>T (p.Arg2359Cys)
c.6997C>T (p.Arg2333Cys)
c.4381C>T (p.Arg1461Cys)
c.6982C>T (p.Arg2328Cys)
c.196C>T (p.Arg66Cys)
n.7094C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.90692731_90692732delinsCGCA1562859308ADGRV1c.7078_7079delinsCG (p.Arg2360=)
c.265+16522_265+16523delinsCG (n.265+16522_265+16523delinsCG)
n.2537_2538delinsCG
c.885_886delinsCG
n.222_223delinsCG
c.4369_4370delinsCG (p.Arg1457=)
c.1807_1808delinsCG
n.7091_7092delinsCG
c.7075_7076delinsCG (p.Arg2359=)
c.6997_6998delinsCG (p.Arg2333=)
c.4381_4382delinsCG (p.Arg1461=)
c.6982_6983delinsCG (p.Arg2328=)
c.196_197delinsCG (p.Arg66=)
n.7094_7095delinsCG
5g.90692731_90692732delinsTACA1562859307ADGRV1c.7078_7079delinsTA (p.Arg2360Tyr)
c.265+16522_265+16523delinsTA (n.265+16522_265+16523delinsTA)
n.2537_2538delinsTA
c.885_886delinsTA
n.222_223delinsTA
c.4369_4370delinsTA (p.Arg1457Tyr)
c.1807_1808delinsTA
n.7091_7092delinsTA
c.7075_7076delinsTA (p.Arg2359Tyr)
c.6997_6998delinsTA (p.Arg2333Tyr)
c.4381_4382delinsTA (p.Arg1461Tyr)
c.6982_6983delinsTA (p.Arg2328Tyr)
c.196_197delinsTA (p.Arg66Tyr)
n.7094_7095delinsTA
ClinVar dbSNP
5g.90692732G>ACA138192ADGRV1c.7079G>A (p.Arg2360His)
c.265+16523G>A (n.265+16523G>A)
n.2538G>A
c.886G>A
n.223G>A
c.4370G>A (p.Arg1457His)
c.1808G>A
n.7092G>A
c.7076G>A (p.Arg2359His)
c.6998G>A (p.Arg2333His)
c.4382G>A (p.Arg1461His)
c.6983G>A (p.Arg2328His)
c.197G>A (p.Arg66His)
n.7095G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692732G>CCA360371679ADGRV1c.7079G>C (p.Arg2360Pro)
c.265+16523G>C (n.265+16523G>C)
n.2538G>C
c.886G>C
n.223G>C
c.4370G>C (p.Arg1457Pro)
c.1808G>C
n.7092G>C
c.7076G>C (p.Arg2359Pro)
c.6998G>C (p.Arg2333Pro)
c.4382G>C (p.Arg1461Pro)
c.6983G>C (p.Arg2328Pro)
c.197G>C (p.Arg66Pro)
n.7095G>C
gnomAD v4
5g.90692732G=CA1562859310ADGRV1c.7079G= (p.Arg2360=)
c.265+16523G= (n.265+16523G=)
n.2538G=
c.886G=
n.223G=
c.4370G= (p.Arg1457=)
c.1808G=
n.7092G=
c.7076G= (p.Arg2359=)
c.6998G= (p.Arg2333=)
c.4382G= (p.Arg1461=)
c.6983G= (p.Arg2328=)
c.197G= (p.Arg66=)
n.7095G=
5g.90692732G>TCA360371671ADGRV1c.7079G>T (p.Arg2360Leu)
c.265+16523G>T (n.265+16523G>T)
n.2538G>T
c.886G>T
n.223G>T
c.4370G>T (p.Arg1457Leu)
c.1808G>T
n.7092G>T
c.7076G>T (p.Arg2359Leu)
c.6998G>T (p.Arg2333Leu)
c.4382G>T (p.Arg1461Leu)
c.6983G>T (p.Arg2328Leu)
c.197G>T (p.Arg66Leu)
n.7095G>T
5g.90692733T>ACA445404552ADGRV1c.7080T>A (p.Arg2360=)
c.265+16524T>A (n.265+16524T>A)
n.2539T>A
c.887T>A
n.224T>A
c.4371T>A (p.Arg1457=)
c.1809T>A
n.7093T>A
c.7077T>A (p.Arg2359=)
c.6999T>A (p.Arg2333=)
c.4383T>A (p.Arg1461=)
c.6984T>A (p.Arg2328=)
c.198T>A (p.Arg66=)
n.7096T>A
5g.90692733T>CCA445404549ADGRV1c.7080T>C (p.Arg2360=)
c.265+16524T>C (n.265+16524T>C)
n.2539T>C
c.887T>C
n.224T>C
c.4371T>C (p.Arg1457=)
c.1809T>C
n.7093T>C
c.7077T>C (p.Arg2359=)
c.6999T>C (p.Arg2333=)
c.4383T>C (p.Arg1461=)
c.6984T>C (p.Arg2328=)
c.198T>C (p.Arg66=)
n.7096T>C
5g.90692733T>GCA445404551ADGRV1c.7080T>G (p.Arg2360=)
c.265+16524T>G (n.265+16524T>G)
n.2539T>G
c.887T>G
n.224T>G
c.4371T>G (p.Arg1457=)
c.1809T>G
n.7093T>G
c.7077T>G (p.Arg2359=)
c.6999T>G (p.Arg2333=)
c.4383T>G (p.Arg1461=)
c.6984T>G (p.Arg2328=)
c.198T>G (p.Arg66=)
n.7096T>G
5g.90692734G>ACA360371682ADGRV1c.7081G>A (p.Val2361Ile)
c.265+16525G>A (n.265+16525G>A)
n.2540G>A
c.888G>A
n.225G>A
c.4372G>A (p.Val1458Ile)
c.1810G>A
n.7094G>A
c.7078G>A (p.Val2360Ile)
c.7000G>A (p.Val2334Ile)
c.4384G>A (p.Val1462Ile)
c.6985G>A (p.Val2329Ile)
c.199G>A (p.Val67Ile)
n.7097G>A
gnomAD v4
5g.90692734G>CCA360371685ADGRV1c.7081G>C (p.Val2361Leu)
c.265+16525G>C (n.265+16525G>C)
n.2540G>C
c.888G>C
n.225G>C
c.4372G>C (p.Val1458Leu)
c.1810G>C
n.7094G>C
c.7078G>C (p.Val2360Leu)
c.7000G>C (p.Val2334Leu)
c.4384G>C (p.Val1462Leu)
c.6985G>C (p.Val2329Leu)
c.199G>C (p.Val67Leu)
n.7097G>C
5g.90692734G>TCA360371690ADGRV1c.7081G>T (p.Val2361Phe)
c.265+16525G>T (n.265+16525G>T)
n.2540G>T
c.888G>T
n.225G>T
c.4372G>T (p.Val1458Phe)
c.1810G>T
n.7094G>T
c.7078G>T (p.Val2360Phe)
c.7000G>T (p.Val2334Phe)
c.4384G>T (p.Val1462Phe)
c.6985G>T (p.Val2329Phe)
c.199G>T (p.Val67Phe)
n.7097G>T
5g.90692735T>ACA360371694ADGRV1c.7082T>A (p.Val2361Asp)
c.265+16526T>A (n.265+16526T>A)
n.2541T>A
c.889T>A
n.226T>A
c.4373T>A (p.Val1458Asp)
c.1811T>A
n.7095T>A
c.7079T>A (p.Val2360Asp)
c.7001T>A (p.Val2334Asp)
c.4385T>A (p.Val1462Asp)
c.6986T>A (p.Val2329Asp)
c.200T>A (p.Val67Asp)
n.7098T>A
dbSNP
5g.90692735T>CCA360371697ADGRV1c.7082T>C (p.Val2361Ala)
c.265+16526T>C (n.265+16526T>C)
n.2541T>C
c.889T>C
n.226T>C
c.4373T>C (p.Val1458Ala)
c.1811T>C
n.7095T>C
c.7079T>C (p.Val2360Ala)
c.7001T>C (p.Val2334Ala)
c.4385T>C (p.Val1462Ala)
c.6986T>C (p.Val2329Ala)
c.200T>C (p.Val67Ala)
n.7098T>C
5g.90692735T>GCA360371700ADGRV1c.7082T>G (p.Val2361Gly)
c.265+16526T>G (n.265+16526T>G)
n.2541T>G
c.889T>G
n.226T>G
c.4373T>G (p.Val1458Gly)
c.1811T>G
n.7095T>G
c.7079T>G (p.Val2360Gly)
c.7001T>G (p.Val2334Gly)
c.4385T>G (p.Val1462Gly)
c.6986T>G (p.Val2329Gly)
c.200T>G (p.Val67Gly)
n.7098T>G
5g.90692735T=CA1562859311ADGRV1c.7082T= (p.Val2361=)
c.265+16526T= (n.265+16526T=)
n.2541T=
c.889T=
n.226T=
c.4373T= (p.Val1458=)
c.1811T=
n.7095T=
c.7079T= (p.Val2360=)
c.7001T= (p.Val2334=)
c.4385T= (p.Val1462=)
c.6986T= (p.Val2329=)
c.200T= (p.Val67=)
n.7098T=
5g.90692736T>ACA445404553ADGRV1c.7083T>A (p.Val2361=)
c.265+16527T>A (n.265+16527T>A)
n.2542T>A
c.890T>A
n.227T>A
c.4374T>A (p.Val1458=)
c.1812T>A
n.7096T>A
c.7080T>A (p.Val2360=)
c.7002T>A (p.Val2334=)
c.4386T>A (p.Val1462=)
c.6987T>A (p.Val2329=)
c.201T>A (p.Val67=)
n.7099T>A
5g.90692736T>CCA445404554ADGRV1c.7083T>C (p.Val2361=)
c.265+16527T>C (n.265+16527T>C)
n.2542T>C
c.890T>C
n.227T>C
c.4374T>C (p.Val1458=)
c.1812T>C
n.7096T>C
c.7080T>C (p.Val2360=)
c.7002T>C (p.Val2334=)
c.4386T>C (p.Val1462=)
c.6987T>C (p.Val2329=)
c.201T>C (p.Val67=)
n.7099T>C
5g.90692736T>GCA445404555ADGRV1c.7083T>G (p.Val2361=)
c.265+16527T>G (n.265+16527T>G)
n.2542T>G
c.890T>G
n.227T>G
c.4374T>G (p.Val1458=)
c.1812T>G
n.7096T>G
c.7080T>G (p.Val2360=)
c.7002T>G (p.Val2334=)
c.4386T>G (p.Val1462=)
c.6987T>G (p.Val2329=)
c.201T>G (p.Val67=)
n.7099T>G
5g.90692737C>ACA360371710ADGRV1c.7084C>A (p.Gln2362Lys)
c.265+16528C>A (n.265+16528C>A)
n.2543C>A
c.891C>A
n.228C>A
c.4375C>A (p.Gln1459Lys)
c.1813C>A
n.7097C>A
c.7081C>A (p.Gln2361Lys)
c.7003C>A (p.Gln2335Lys)
c.4387C>A (p.Gln1463Lys)
c.6988C>A (p.Gln2330Lys)
c.202C>A (p.Gln68Lys)
n.7100C>A
5g.90692737C>GCA360371704ADGRV1c.7084C>G (p.Gln2362Glu)
c.265+16528C>G (n.265+16528C>G)
n.2543C>G
c.891C>G
n.228C>G
c.4375C>G (p.Gln1459Glu)
c.1813C>G
n.7097C>G
c.7081C>G (p.Gln2361Glu)
c.7003C>G (p.Gln2335Glu)
c.4387C>G (p.Gln1463Glu)
c.6988C>G (p.Gln2330Glu)
c.202C>G (p.Gln68Glu)
n.7100C>G
5g.90692737C>TCA360371707ADGRV1c.7084C>T (p.Gln2362Ter)
c.265+16528C>T (n.265+16528C>T)
n.2543C>T
c.891C>T
n.228C>T
c.4375C>T (p.Gln1459Ter)
c.1813C>T
n.7097C>T
c.7081C>T (p.Gln2361Ter)
c.7003C>T (p.Gln2335Ter)
c.4387C>T (p.Gln1463Ter)
c.6988C>T (p.Gln2330Ter)
c.202C>T (p.Gln68Ter)
n.7100C>T
gnomAD v4
5g.90692738A=CA1562859312ADGRV1c.7085A= (p.Gln2362=)
c.265+16529A= (n.265+16529A=)
n.2544A=
c.892A=
n.229A=
c.4376A= (p.Gln1459=)
c.1814A=
n.7098A=
c.7082A= (p.Gln2361=)
c.7004A= (p.Gln2335=)
c.4388A= (p.Gln1463=)
c.6989A= (p.Gln2330=)
c.203A= (p.Gln68=)
n.7101A=
5g.90692738A>CCA360371711ADGRV1c.7085A>C (p.Gln2362Pro)
c.265+16529A>C (n.265+16529A>C)
n.2544A>C
c.892A>C
n.229A>C
c.4376A>C (p.Gln1459Pro)
c.1814A>C
n.7098A>C
c.7082A>C (p.Gln2361Pro)
c.7004A>C (p.Gln2335Pro)
c.4388A>C (p.Gln1463Pro)
c.6989A>C (p.Gln2330Pro)
c.203A>C (p.Gln68Pro)
n.7101A>C
5g.90692738A>GCA122797191ADGRV1c.7085A>G (p.Gln2362Arg)
c.265+16529A>G (n.265+16529A>G)
n.2544A>G
c.892A>G
n.229A>G
c.4376A>G (p.Gln1459Arg)
c.1814A>G
n.7098A>G
c.7082A>G (p.Gln2361Arg)
c.7004A>G (p.Gln2335Arg)
c.4388A>G (p.Gln1463Arg)
c.6989A>G (p.Gln2330Arg)
c.203A>G (p.Gln68Arg)
n.7101A>G
dbSNP
5g.90692738A>TCA360371715ADGRV1c.7085A>T (p.Gln2362Leu)
c.265+16529A>T (n.265+16529A>T)
n.2544A>T
c.892A>T
n.229A>T
c.4376A>T (p.Gln1459Leu)
c.1814A>T
n.7098A>T
c.7082A>T (p.Gln2361Leu)
c.7004A>T (p.Gln2335Leu)
c.4388A>T (p.Gln1463Leu)
c.6989A>T (p.Gln2330Leu)
c.203A>T (p.Gln68Leu)
n.7101A>T
5g.90692739A>CCA360371722ADGRV1c.7086A>C (p.Gln2362His)
c.265+16530A>C (n.265+16530A>C)
n.2545A>C
c.893A>C
n.230A>C
c.4377A>C (p.Gln1459His)
c.1815A>C
n.7099A>C
c.7083A>C (p.Gln2361His)
c.7005A>C (p.Gln2335His)
c.4389A>C (p.Gln1463His)
c.6990A>C (p.Gln2330His)
c.204A>C (p.Gln68His)
n.7102A>C
5g.90692739A>GCA445404558ADGRV1c.7086A>G (p.Gln2362=)
c.265+16530A>G (n.265+16530A>G)
n.2545A>G
c.893A>G
n.230A>G
c.4377A>G (p.Gln1459=)
c.1815A>G
n.7099A>G
c.7083A>G (p.Gln2361=)
c.7005A>G (p.Gln2335=)
c.4389A>G (p.Gln1463=)
c.6990A>G (p.Gln2330=)
c.204A>G (p.Gln68=)
n.7102A>G
5g.90692739A>TCA360371729ADGRV1c.7086A>T (p.Gln2362His)
c.265+16530A>T (n.265+16530A>T)
n.2545A>T
c.893A>T
n.230A>T
c.4377A>T (p.Gln1459His)
c.1815A>T
n.7099A>T
c.7083A>T (p.Gln2361His)
c.7005A>T (p.Gln2335His)
c.4389A>T (p.Gln1463His)
c.6990A>T (p.Gln2330His)
c.204A>T (p.Gln68His)
n.7102A>T
5g.90692740G>ACA360371738ADGRV1c.7087G>A (p.Glu2363Lys)
c.265+16531G>A (n.265+16531G>A)
n.2546G>A
c.894G>A
n.231G>A
c.4378G>A (p.Glu1460Lys)
c.1816G>A
n.7100G>A
c.7084G>A (p.Glu2362Lys)
c.7006G>A (p.Glu2336Lys)
c.4390G>A (p.Glu1464Lys)
c.6991G>A (p.Glu2331Lys)
c.205G>A (p.Glu69Lys)
n.7103G>A
gnomAD v4
5g.90692740G>CCA360371732ADGRV1c.7087G>C (p.Glu2363Gln)
c.265+16531G>C (n.265+16531G>C)
n.2546G>C
c.894G>C
n.231G>C
c.4378G>C (p.Glu1460Gln)
c.1816G>C
n.7100G>C
c.7084G>C (p.Glu2362Gln)
c.7006G>C (p.Glu2336Gln)
c.4390G>C (p.Glu1464Gln)
c.6991G>C (p.Glu2331Gln)
c.205G>C (p.Glu69Gln)
n.7103G>C
ClinVar gnomAD v4
5g.90692740G>TCA360371734ADGRV1c.7087G>T (p.Glu2363Ter)
c.265+16531G>T (n.265+16531G>T)
n.2546G>T
c.894G>T
n.231G>T
c.4378G>T (p.Glu1460Ter)
c.1816G>T
n.7100G>T
c.7084G>T (p.Glu2362Ter)
c.7006G>T (p.Glu2336Ter)
c.4390G>T (p.Glu1464Ter)
c.6991G>T (p.Glu2331Ter)
c.205G>T (p.Glu69Ter)
n.7103G>T
5g.90692741A>CCA360371741ADGRV1c.7088A>C (p.Glu2363Ala)
c.265+16532A>C (n.265+16532A>C)
n.2547A>C
c.895A>C
n.232A>C
c.4379A>C (p.Glu1460Ala)
c.1817A>C
n.7101A>C
c.7085A>C (p.Glu2362Ala)
c.7007A>C (p.Glu2336Ala)
c.4391A>C (p.Glu1464Ala)
c.6992A>C (p.Glu2331Ala)
c.206A>C (p.Glu69Ala)
n.7104A>C
5g.90692741A>GCA360371743ADGRV1c.7088A>G (p.Glu2363Gly)
c.265+16532A>G (n.265+16532A>G)
n.2547A>G
c.895A>G
n.232A>G
c.4379A>G (p.Glu1460Gly)
c.1817A>G
n.7101A>G
c.7085A>G (p.Glu2362Gly)
c.7007A>G (p.Glu2336Gly)
c.4391A>G (p.Glu1464Gly)
c.6992A>G (p.Glu2331Gly)
c.206A>G (p.Glu69Gly)
n.7104A>G
gnomAD v4
5g.90692741A>TCA360371747ADGRV1c.7088A>T (p.Glu2363Val)
c.265+16532A>T (n.265+16532A>T)
n.2547A>T
c.895A>T
n.232A>T
c.4379A>T (p.Glu1460Val)
c.1817A>T
n.7101A>T
c.7085A>T (p.Glu2362Val)
c.7007A>T (p.Glu2336Val)
c.4391A>T (p.Glu1464Val)
c.6992A>T (p.Glu2331Val)
c.206A>T (p.Glu69Val)
n.7104A>T
5g.90692742G>ACA445404560ADGRV1c.7089G>A (p.Glu2363=)
c.265+16533G>A (n.265+16533G>A)
n.2548G>A
c.896G>A
n.233G>A
c.4380G>A (p.Glu1460=)
c.1818G>A
n.7102G>A
c.7086G>A (p.Glu2362=)
c.7008G>A (p.Glu2336=)
c.4392G>A (p.Glu1464=)
c.6993G>A (p.Glu2331=)
c.207G>A (p.Glu69=)
n.7105G>A
gnomAD v4
5g.90692742G>CCA360371748ADGRV1c.7089G>C (p.Glu2363Asp)
c.265+16533G>C (n.265+16533G>C)
n.2548G>C
c.896G>C
n.233G>C
c.4380G>C (p.Glu1460Asp)
c.1818G>C
n.7102G>C
c.7086G>C (p.Glu2362Asp)
c.7008G>C (p.Glu2336Asp)
c.4392G>C (p.Glu1464Asp)
c.6993G>C (p.Glu2331Asp)
c.207G>C (p.Glu69Asp)
n.7105G>C
5g.90692742G>TCA360371749ADGRV1c.7089G>T (p.Glu2363Asp)
c.265+16533G>T (n.265+16533G>T)
n.2548G>T
c.896G>T
n.233G>T
c.4380G>T (p.Glu1460Asp)
c.1818G>T
n.7102G>T
c.7086G>T (p.Glu2362Asp)
c.7008G>T (p.Glu2336Asp)
c.4392G>T (p.Glu1464Asp)
c.6993G>T (p.Glu2331Asp)
c.207G>T (p.Glu69Asp)
n.7105G>T
5g.90692743C>ACA360371752ADGRV1c.7090C>A (p.Pro2364Thr)
c.265+16534C>A (n.265+16534C>A)
n.2549C>A
c.897C>A
n.234C>A
c.4381C>A (p.Pro1461Thr)
c.1819C>A
n.7103C>A
c.7087C>A (p.Pro2363Thr)
c.7009C>A (p.Pro2337Thr)
c.4393C>A (p.Pro1465Thr)
c.6994C>A (p.Pro2332Thr)
c.208C>A (p.Pro70Thr)
n.7106C>A
dbSNP gnomAD v2 gnomAD v4
5g.90692743C=CA1562859313ADGRV1c.7090C= (p.Pro2364=)
c.265+16534C= (n.265+16534C=)
n.2549C=
c.897C=
n.234C=
c.4381C= (p.Pro1461=)
c.1819C=
n.7103C=
c.7087C= (p.Pro2363=)
c.7009C= (p.Pro2337=)
c.4393C= (p.Pro1465=)
c.6994C= (p.Pro2332=)
c.208C= (p.Pro70=)
n.7106C=
5g.90692743C>GCA360371754ADGRV1c.7090C>G (p.Pro2364Ala)
c.265+16534C>G (n.265+16534C>G)
n.2549C>G
c.897C>G
n.234C>G
c.4381C>G (p.Pro1461Ala)
c.1819C>G
n.7103C>G
c.7087C>G (p.Pro2363Ala)
c.7009C>G (p.Pro2337Ala)
c.4393C>G (p.Pro1465Ala)
c.6994C>G (p.Pro2332Ala)
c.208C>G (p.Pro70Ala)
n.7106C>G
5g.90692743C>TCA360371758ADGRV1c.7090C>T (p.Pro2364Ser)
c.265+16534C>T (n.265+16534C>T)
n.2549C>T
c.897C>T
n.234C>T
c.4381C>T (p.Pro1461Ser)
c.1819C>T
n.7103C>T
c.7087C>T (p.Pro2363Ser)
c.7009C>T (p.Pro2337Ser)
c.4393C>T (p.Pro1465Ser)
c.6994C>T (p.Pro2332Ser)
c.208C>T (p.Pro70Ser)
n.7106C>T
gnomAD v4
5g.90692744C>ACA360371763ADGRV1c.7091C>A (p.Pro2364His)
c.265+16535C>A (n.265+16535C>A)
n.2550C>A
c.898C>A
n.235C>A
c.4382C>A (p.Pro1461His)
c.1820C>A
n.7104C>A
c.7088C>A (p.Pro2363His)
c.7010C>A (p.Pro2337His)
c.4394C>A (p.Pro1465His)
c.6995C>A (p.Pro2332His)
c.209C>A (p.Pro70His)
n.7107C>A
5g.90692744C>GCA360371767ADGRV1c.7091C>G (p.Pro2364Arg)
c.265+16535C>G (n.265+16535C>G)
n.2550C>G
c.898C>G
n.235C>G
c.4382C>G (p.Pro1461Arg)
c.1820C>G
n.7104C>G
c.7088C>G (p.Pro2363Arg)
c.7010C>G (p.Pro2337Arg)
c.4394C>G (p.Pro1465Arg)
c.6995C>G (p.Pro2332Arg)
c.209C>G (p.Pro70Arg)
n.7107C>G
5g.90692744C>TCA360371768ADGRV1c.7091C>T (p.Pro2364Leu)
c.265+16535C>T (n.265+16535C>T)
n.2550C>T
c.898C>T
n.235C>T
c.4382C>T (p.Pro1461Leu)
c.1820C>T
n.7104C>T
c.7088C>T (p.Pro2363Leu)
c.7010C>T (p.Pro2337Leu)
c.4394C>T (p.Pro1465Leu)
c.6995C>T (p.Pro2332Leu)
c.209C>T (p.Pro70Leu)
n.7107C>T
5g.90692745T>ACA445404566ADGRV1c.7092T>A (p.Pro2364=)
c.265+16536T>A (n.265+16536T>A)
n.2551T>A
c.899T>A
n.236T>A
c.4383T>A (p.Pro1461=)
c.1821T>A
n.7105T>A
c.7089T>A (p.Pro2363=)
c.7011T>A (p.Pro2337=)
c.4395T>A (p.Pro1465=)
c.6996T>A (p.Pro2332=)
c.210T>A (p.Pro70=)
n.7108T>A
ClinVar dbSNP
5g.90692745T>CCA445404567ADGRV1c.7092T>C (p.Pro2364=)
c.265+16536T>C (n.265+16536T>C)
n.2551T>C
c.899T>C
n.236T>C
c.4383T>C (p.Pro1461=)
c.1821T>C
n.7105T>C
c.7089T>C (p.Pro2363=)
c.7011T>C (p.Pro2337=)
c.4395T>C (p.Pro1465=)
c.6996T>C (p.Pro2332=)
c.210T>C (p.Pro70=)
n.7108T>C
gnomAD v4
5g.90692745T>GCA445404569ADGRV1c.7092T>G (p.Pro2364=)
c.265+16536T>G (n.265+16536T>G)
n.2551T>G
c.899T>G
n.236T>G
c.4383T>G (p.Pro1461=)
c.1821T>G
n.7105T>G
c.7089T>G (p.Pro2363=)
c.7011T>G (p.Pro2337=)
c.4395T>G (p.Pro1465=)
c.6996T>G (p.Pro2332=)
c.210T>G (p.Pro70=)
n.7108T>G
5g.90692745T=CA1562859314ADGRV1c.7092T= (p.Pro2364=)
c.265+16536T= (n.265+16536T=)
n.2551T=
c.899T=
n.236T=
c.4383T= (p.Pro1461=)
c.1821T=
n.7105T=
c.7089T= (p.Pro2363=)
c.7011T= (p.Pro2337=)
c.4395T= (p.Pro1465=)
c.6996T= (p.Pro2332=)
c.210T= (p.Pro70=)
n.7108T=
5g.90692746C>ACA360371769ADGRV1c.7093C>A (p.Leu2365Met)
c.265+16537C>A (n.265+16537C>A)
n.2552C>A
c.900C>A
n.237C>A
c.4384C>A (p.Leu1462Met)
c.1822C>A
n.7106C>A
c.7090C>A (p.Leu2364Met)
c.7012C>A (p.Leu2338Met)
c.4396C>A (p.Leu1466Met)
c.6997C>A (p.Leu2333Met)
c.211C>A (p.Leu71Met)
n.7109C>A
5g.90692746C>GCA360371770ADGRV1c.7093C>G (p.Leu2365Val)
c.265+16537C>G (n.265+16537C>G)
n.2552C>G
c.900C>G
n.237C>G
c.4384C>G (p.Leu1462Val)
c.1822C>G
n.7106C>G
c.7090C>G (p.Leu2364Val)
c.7012C>G (p.Leu2338Val)
c.4396C>G (p.Leu1466Val)
c.6997C>G (p.Leu2333Val)
c.211C>G (p.Leu71Val)
n.7109C>G
5g.90692746C>TCA445404572ADGRV1c.7093C>T (p.Leu2365=)
c.265+16537C>T (n.265+16537C>T)
n.2552C>T
c.900C>T
n.237C>T
c.4384C>T (p.Leu1462=)
c.1822C>T
n.7106C>T
c.7090C>T (p.Leu2364=)
c.7012C>T (p.Leu2338=)
c.4396C>T (p.Leu1466=)
c.6997C>T (p.Leu2333=)
c.211C>T (p.Leu71=)
n.7109C>T
gnomAD v4
5g.90692747T>ACA360371775ADGRV1c.7094T>A (p.Leu2365Gln)
c.265+16538T>A (n.265+16538T>A)
n.2553T>A
c.901T>A
n.238T>A
c.4385T>A (p.Leu1462Gln)
c.1823T>A
n.7107T>A
c.7091T>A (p.Leu2364Gln)
c.7013T>A (p.Leu2338Gln)
c.4397T>A (p.Leu1466Gln)
c.6998T>A (p.Leu2333Gln)
c.212T>A (p.Leu71Gln)
n.7110T>A
5g.90692747T>CCA360371787ADGRV1c.7094T>C (p.Leu2365Pro)
c.265+16538T>C (n.265+16538T>C)
n.2553T>C
c.901T>C
n.238T>C
c.4385T>C (p.Leu1462Pro)
c.1823T>C
n.7107T>C
c.7091T>C (p.Leu2364Pro)
c.7013T>C (p.Leu2338Pro)
c.4397T>C (p.Leu1466Pro)
c.6998T>C (p.Leu2333Pro)
c.212T>C (p.Leu71Pro)
n.7110T>C
5g.90692747T>GCA360371776ADGRV1c.7094T>G (p.Leu2365Arg)
c.265+16538T>G (n.265+16538T>G)
n.2553T>G
c.901T>G
n.238T>G
c.4385T>G (p.Leu1462Arg)
c.1823T>G
n.7107T>G
c.7091T>G (p.Leu2364Arg)
c.7013T>G (p.Leu2338Arg)
c.4397T>G (p.Leu1466Arg)
c.6998T>G (p.Leu2333Arg)
c.212T>G (p.Leu71Arg)
n.7110T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692747T=CA1562859315ADGRV1c.7094T= (p.Leu2365=)
c.265+16538T= (n.265+16538T=)
n.2553T=
c.901T=
n.238T=
c.4385T= (p.Leu1462=)
c.1823T=
n.7107T=
c.7091T= (p.Leu2364=)
c.7013T= (p.Leu2338=)
c.4397T= (p.Leu1466=)
c.6998T= (p.Leu2333=)
c.212T= (p.Leu71=)
n.7110T=
5g.90692748G>ACA244177ADGRV1c.7095G>A (p.Leu2365=)
c.265+16539G>A (n.265+16539G>A)
n.2554G>A
c.902G>A
n.239G>A
c.4386G>A (p.Leu1462=)
c.1824G>A
n.7108G>A
c.7092G>A (p.Leu2364=)
c.7014G>A (p.Leu2338=)
c.4398G>A (p.Leu1466=)
c.6999G>A (p.Leu2333=)
c.213G>A (p.Leu71=)
n.7111G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90692748G>CCA445404574ADGRV1c.7095G>C (p.Leu2365=)
c.265+16539G>C (n.265+16539G>C)
n.2554G>C
c.902G>C
n.239G>C
c.4386G>C (p.Leu1462=)
c.1824G>C
n.7108G>C
c.7092G>C (p.Leu2364=)
c.7014G>C (p.Leu2338=)
c.4398G>C (p.Leu1466=)
c.6999G>C (p.Leu2333=)
c.213G>C (p.Leu71=)
n.7111G>C
5g.90692748G=CA1562859316ADGRV1c.7095G= (p.Leu2365=)
c.265+16539G= (n.265+16539G=)
n.2554G=
c.902G=
n.239G=
c.4386G= (p.Leu1462=)
c.1824G=
n.7108G=
c.7092G= (p.Leu2364=)
c.7014G= (p.Leu2338=)
c.4398G= (p.Leu1466=)
c.6999G= (p.Leu2333=)
c.213G= (p.Leu71=)
n.7111G=
5g.90692748G>TCA445404575ADGRV1c.7095G>T (p.Leu2365=)
c.265+16539G>T (n.265+16539G>T)
n.2554G>T
c.902G>T
n.239G>T
c.4386G>T (p.Leu1462=)
c.1824G>T
n.7108G>T
c.7092G>T (p.Leu2364=)
c.7014G>T (p.Leu2338=)
c.4398G>T (p.Leu1466=)
c.6999G>T (p.Leu2333=)
c.213G>T (p.Leu71=)
n.7111G>T
dbSNP
5g.90692749G>ACA360371790ADGRV1c.7096G>A (p.Glu2366Lys)
c.265+16540G>A (n.265+16540G>A)
n.2555G>A
c.903G>A
n.240G>A
c.4387G>A (p.Glu1463Lys)
c.1825G>A
n.7109G>A
c.7093G>A (p.Glu2365Lys)
c.7015G>A (p.Glu2339Lys)
c.4399G>A (p.Glu1467Lys)
c.7000G>A (p.Glu2334Lys)
c.214G>A (p.Glu72Lys)
n.7112G>A
5g.90692749G>CCA360371791ADGRV1c.7096G>C (p.Glu2366Gln)
c.265+16540G>C (n.265+16540G>C)
n.2555G>C
c.903G>C
n.240G>C
c.4387G>C (p.Glu1463Gln)
c.1825G>C
n.7109G>C
c.7093G>C (p.Glu2365Gln)
c.7015G>C (p.Glu2339Gln)
c.4399G>C (p.Glu1467Gln)
c.7000G>C (p.Glu2334Gln)
c.214G>C (p.Glu72Gln)
n.7112G>C
5g.90692749G>TCA360371795ADGRV1c.7096G>T (p.Glu2366Ter)
c.265+16540G>T (n.265+16540G>T)
n.2555G>T
c.903G>T
n.240G>T
c.4387G>T (p.Glu1463Ter)
c.1825G>T
n.7109G>T
c.7093G>T (p.Glu2365Ter)
c.7015G>T (p.Glu2339Ter)
c.4399G>T (p.Glu1467Ter)
c.7000G>T (p.Glu2334Ter)
c.214G>T (p.Glu72Ter)
n.7112G>T
gnomAD v4
5g.90692750A>CCA360371798ADGRV1c.7097A>C (p.Glu2366Ala)
c.265+16541A>C (n.265+16541A>C)
n.2556A>C
c.904A>C
n.241A>C
c.4388A>C (p.Glu1463Ala)
c.1826A>C
n.7110A>C
c.7094A>C (p.Glu2365Ala)
c.7016A>C (p.Glu2339Ala)
c.4400A>C (p.Glu1467Ala)
c.7001A>C (p.Glu2334Ala)
c.215A>C (p.Glu72Ala)
n.7113A>C
5g.90692750A>GCA360371799ADGRV1c.7097A>G (p.Glu2366Gly)
c.265+16541A>G (n.265+16541A>G)
n.2556A>G
c.904A>G
n.241A>G
c.4388A>G (p.Glu1463Gly)
c.1826A>G
n.7110A>G
c.7094A>G (p.Glu2365Gly)
c.7016A>G (p.Glu2339Gly)
c.4400A>G (p.Glu1467Gly)
c.7001A>G (p.Glu2334Gly)
c.215A>G (p.Glu72Gly)
n.7113A>G
ClinVar dbSNP
5g.90692750A>TCA360371800ADGRV1c.7097A>T (p.Glu2366Val)
c.265+16541A>T (n.265+16541A>T)
n.2556A>T
c.904A>T
n.241A>T
c.4388A>T (p.Glu1463Val)
c.1826A>T
n.7110A>T
c.7094A>T (p.Glu2365Val)
c.7016A>T (p.Glu2339Val)
c.4400A>T (p.Glu1467Val)
c.7001A>T (p.Glu2334Val)
c.215A>T (p.Glu72Val)
n.7113A>T
5g.90692751A>CCA360371805ADGRV1c.7098A>C (p.Glu2366Asp)
c.265+16542A>C (n.265+16542A>C)
n.2557A>C
c.905A>C
n.242A>C
c.4389A>C (p.Glu1463Asp)
c.1827A>C
n.7111A>C
c.7095A>C (p.Glu2365Asp)
c.7017A>C (p.Glu2339Asp)
c.4401A>C (p.Glu1467Asp)
c.7002A>C (p.Glu2334Asp)
c.216A>C (p.Glu72Asp)
n.7114A>C
5g.90692751A>GCA445404577ADGRV1c.7098A>G (p.Glu2366=)
c.265+16542A>G (n.265+16542A>G)
n.2557A>G
c.905A>G
n.242A>G
c.4389A>G (p.Glu1463=)
c.1827A>G
n.7111A>G
c.7095A>G (p.Glu2365=)
c.7017A>G (p.Glu2339=)
c.4401A>G (p.Glu1467=)
c.7002A>G (p.Glu2334=)
c.216A>G (p.Glu72=)
n.7114A>G
5g.90692751A>TCA360371809ADGRV1c.7098A>T (p.Glu2366Asp)
c.265+16542A>T (n.265+16542A>T)
n.2557A>T
c.905A>T
n.242A>T
c.4389A>T (p.Glu1463Asp)
c.1827A>T
n.7111A>T
c.7095A>T (p.Glu2365Asp)
c.7017A>T (p.Glu2339Asp)
c.4401A>T (p.Glu1467Asp)
c.7002A>T (p.Glu2334Asp)
c.216A>T (p.Glu72Asp)
n.7114A>T
5g.90692752A=CA1562859317ADGRV1c.7099A= (p.Arg2367=)
c.265+16543A= (n.265+16543A=)
n.2558A=
c.906A=
n.243A=
c.4390A= (p.Arg1464=)
c.1828A=
n.7112A=
c.7096A= (p.Arg2366=)
c.7018A= (p.Arg2340=)
c.4402A= (p.Arg1468=)
c.7003A= (p.Arg2335=)
c.217A= (p.Arg73=)
n.7115A=
5g.90692752A>CCA445404578ADGRV1c.7099A>C (p.Arg2367=)
c.265+16543A>C (n.265+16543A>C)
n.2558A>C
c.906A>C
n.243A>C
c.4390A>C (p.Arg1464=)
c.1828A>C
n.7112A>C
c.7096A>C (p.Arg2366=)
c.7018A>C (p.Arg2340=)
c.4402A>C (p.Arg1468=)
c.7003A>C (p.Arg2335=)
c.217A>C (p.Arg73=)
n.7115A>C
5g.90692752A>GCA360371810ADGRV1c.7099A>G (p.Arg2367Gly)
c.265+16543A>G (n.265+16543A>G)
n.2558A>G
c.906A>G
n.243A>G
c.4390A>G (p.Arg1464Gly)
c.1828A>G
n.7112A>G
c.7096A>G (p.Arg2366Gly)
c.7018A>G (p.Arg2340Gly)
c.4402A>G (p.Arg1468Gly)
c.7003A>G (p.Arg2335Gly)
c.217A>G (p.Arg73Gly)
n.7115A>G
dbSNP gnomAD v4
5g.90692752A>TCA360371811ADGRV1c.7099A>T (p.Arg2367Ter)
c.265+16543A>T (n.265+16543A>T)
n.2558A>T
c.906A>T
n.243A>T
c.4390A>T (p.Arg1464Ter)
c.1828A>T
n.7112A>T
c.7096A>T (p.Arg2366Ter)
c.7018A>T (p.Arg2340Ter)
c.4402A>T (p.Arg1468Ter)
c.7003A>T (p.Arg2335Ter)
c.217A>T (p.Arg73Ter)
n.7115A>T
gnomAD v4
5g.90692753G>ACA360371813ADGRV1c.7100G>A (p.Arg2367Lys)
c.265+16544G>A (n.265+16544G>A)
n.2559G>A
c.907G>A
n.244G>A
c.4391G>A (p.Arg1464Lys)
c.1829G>A
n.7113G>A
c.7097G>A (p.Arg2366Lys)
c.7019G>A (p.Arg2340Lys)
c.4403G>A (p.Arg1468Lys)
c.7004G>A (p.Arg2335Lys)
c.218G>A (p.Arg73Lys)
n.7116G>A
dbSNP gnomAD v3 gnomAD v4
5g.90692753G>CCA360371817ADGRV1c.7100G>C (p.Arg2367Thr)
c.265+16544G>C (n.265+16544G>C)
n.2559G>C
c.907G>C
n.244G>C
c.4391G>C (p.Arg1464Thr)
c.1829G>C
n.7113G>C
c.7097G>C (p.Arg2366Thr)
c.7019G>C (p.Arg2340Thr)
c.4403G>C (p.Arg1468Thr)
c.7004G>C (p.Arg2335Thr)
c.218G>C (p.Arg73Thr)
n.7116G>C
5g.90692753G=CA1562859318ADGRV1c.7100G= (p.Arg2367=)
c.265+16544G= (n.265+16544G=)
n.2559G=
c.907G=
n.244G=
c.4391G= (p.Arg1464=)
c.1829G=
n.7113G=
c.7097G= (p.Arg2366=)
c.7019G= (p.Arg2340=)
c.4403G= (p.Arg1468=)
c.7004G= (p.Arg2335=)
c.218G= (p.Arg73=)
n.7116G=
5g.90692753G>TCA360371820ADGRV1c.7100G>T (p.Arg2367Ile)
c.265+16544G>T (n.265+16544G>T)
n.2559G>T
c.907G>T
n.244G>T
c.4391G>T (p.Arg1464Ile)
c.1829G>T
n.7113G>T
c.7097G>T (p.Arg2366Ile)
c.7019G>T (p.Arg2340Ile)
c.4403G>T (p.Arg1468Ile)
c.7004G>T (p.Arg2335Ile)
c.218G>T (p.Arg73Ile)
n.7116G>T
5g.90692754A>CCA360371839ADGRV1c.7101A>C (p.Arg2367Ser)
c.265+16545A>C (n.265+16545A>C)
n.2560A>C
c.908A>C
n.245A>C
c.4392A>C (p.Arg1464Ser)
c.1830A>C
n.7114A>C
c.7098A>C (p.Arg2366Ser)
c.7020A>C (p.Arg2340Ser)
c.4404A>C (p.Arg1468Ser)
c.7005A>C (p.Arg2335Ser)
c.219A>C (p.Arg73Ser)
n.7117A>C
5g.90692754A>GCA445404579ADGRV1c.7101A>G (p.Arg2367=)
c.265+16545A>G (n.265+16545A>G)
n.2560A>G
c.908A>G
n.245A>G
c.4392A>G (p.Arg1464=)
c.1830A>G
n.7114A>G
c.7098A>G (p.Arg2366=)
c.7020A>G (p.Arg2340=)
c.4404A>G (p.Arg1468=)
c.7005A>G (p.Arg2335=)
c.219A>G (p.Arg73=)
n.7117A>G
5g.90692754A>TCA360371848ADGRV1c.7101A>T (p.Arg2367Ser)
c.265+16545A>T (n.265+16545A>T)
n.2560A>T
c.908A>T
n.245A>T
c.4392A>T (p.Arg1464Ser)
c.1830A>T
n.7114A>T
c.7098A>T (p.Arg2366Ser)
c.7020A>T (p.Arg2340Ser)
c.4404A>T (p.Arg1468Ser)
c.7005A>T (p.Arg2335Ser)
c.219A>T (p.Arg73Ser)
n.7117A>T
5g.90692755A>CCA360371853ADGRV1c.7102A>C (p.Ser2368Arg)
c.265+16546A>C (n.265+16546A>C)
n.2561A>C
c.909A>C
n.246A>C
c.4393A>C (p.Ser1465Arg)
c.1831A>C
n.7115A>C
c.7099A>C (p.Ser2367Arg)
c.7021A>C (p.Ser2341Arg)
c.4405A>C (p.Ser1469Arg)
c.7006A>C (p.Ser2336Arg)
c.220A>C (p.Ser74Arg)
n.7118A>C
COSMIC
5g.90692755A>GCA360371864ADGRV1c.7102A>G (p.Ser2368Gly)
c.265+16546A>G (n.265+16546A>G)
n.2561A>G
c.909A>G
n.246A>G
c.4393A>G (p.Ser1465Gly)
c.1831A>G
n.7115A>G
c.7099A>G (p.Ser2367Gly)
c.7021A>G (p.Ser2341Gly)
c.4405A>G (p.Ser1469Gly)
c.7006A>G (p.Ser2336Gly)
c.220A>G (p.Ser74Gly)
n.7118A>G
COSMIC
5g.90692755A>TCA360371865ADGRV1c.7102A>T (p.Ser2368Cys)
c.265+16546A>T (n.265+16546A>T)
n.2561A>T
c.909A>T
n.246A>T
c.4393A>T (p.Ser1465Cys)
c.1831A>T
n.7115A>T
c.7099A>T (p.Ser2367Cys)
c.7021A>T (p.Ser2341Cys)
c.4405A>T (p.Ser1469Cys)
c.7006A>T (p.Ser2336Cys)
c.220A>T (p.Ser74Cys)
n.7118A>T
5g.90692756G>ACA360371869ADGRV1c.7103G>A (p.Ser2368Asn)
c.265+16547G>A (n.265+16547G>A)
n.2562G>A
c.910G>A
n.247G>A
c.4394G>A (p.Ser1465Asn)
c.1832G>A
n.7116G>A
c.7100G>A (p.Ser2367Asn)
c.7022G>A (p.Ser2341Asn)
c.4406G>A (p.Ser1469Asn)
c.7007G>A (p.Ser2336Asn)
c.221G>A (p.Ser74Asn)
n.7119G>A
5g.90692756G>CCA360371872ADGRV1c.7103G>C (p.Ser2368Thr)
c.265+16547G>C (n.265+16547G>C)
n.2562G>C
c.910G>C
n.247G>C
c.4394G>C (p.Ser1465Thr)
c.1832G>C
n.7116G>C
c.7100G>C (p.Ser2367Thr)
c.7022G>C (p.Ser2341Thr)
c.4406G>C (p.Ser1469Thr)
c.7007G>C (p.Ser2336Thr)
c.221G>C (p.Ser74Thr)
n.7119G>C
5g.90692756G>TCA360371878ADGRV1c.7103G>T (p.Ser2368Ile)
c.265+16547G>T (n.265+16547G>T)
n.2562G>T
c.910G>T
n.247G>T
c.4394G>T (p.Ser1465Ile)
c.1832G>T
n.7116G>T
c.7100G>T (p.Ser2367Ile)
c.7022G>T (p.Ser2341Ile)
c.4406G>T (p.Ser1469Ile)
c.7007G>T (p.Ser2336Ile)
c.221G>T (p.Ser74Ile)
n.7119G>T
5g.90692757T>ACA360371879ADGRV1c.7104T>A (p.Ser2368Arg)
c.265+16548T>A (n.265+16548T>A)
n.2563T>A
c.911T>A
n.248T>A
c.4395T>A (p.Ser1465Arg)
c.1833T>A
n.7117T>A
c.7101T>A (p.Ser2367Arg)
c.7023T>A (p.Ser2341Arg)
c.4407T>A (p.Ser1469Arg)
c.7008T>A (p.Ser2336Arg)
c.222T>A (p.Ser74Arg)
n.7120T>A
5g.90692757T>CCA445404582ADGRV1c.7104T>C (p.Ser2368=)
c.265+16548T>C (n.265+16548T>C)
n.2563T>C
c.911T>C
n.248T>C
c.4395T>C (p.Ser1465=)
c.1833T>C
n.7117T>C
c.7101T>C (p.Ser2367=)
c.7023T>C (p.Ser2341=)
c.4407T>C (p.Ser1469=)
c.7008T>C (p.Ser2336=)
c.222T>C (p.Ser74=)
n.7120T>C
5g.90692757T>GCA360371880ADGRV1c.7104T>G (p.Ser2368Arg)
c.265+16548T>G (n.265+16548T>G)
n.2563T>G
c.911T>G
n.248T>G
c.4395T>G (p.Ser1465Arg)
c.1833T>G
n.7117T>G
c.7101T>G (p.Ser2367Arg)
c.7023T>G (p.Ser2341Arg)
c.4407T>G (p.Ser1469Arg)
c.7008T>G (p.Ser2336Arg)
c.222T>G (p.Ser74Arg)
n.7120T>G
5g.90692758T>ACA360371882ADGRV1c.7105T>A (p.Ser2369Thr)
c.265+16549T>A (n.265+16549T>A)
n.2564T>A
c.912T>A
n.249T>A
c.4396T>A (p.Ser1466Thr)
c.1834T>A
n.7118T>A
c.7102T>A (p.Ser2368Thr)
c.7024T>A (p.Ser2342Thr)
c.4408T>A (p.Ser1470Thr)
c.7009T>A (p.Ser2337Thr)
c.223T>A (p.Ser75Thr)
n.7121T>A
5g.90692758T>CCA360371885ADGRV1c.7105T>C (p.Ser2369Pro)
c.265+16549T>C (n.265+16549T>C)
n.2564T>C
c.912T>C
n.249T>C
c.4396T>C (p.Ser1466Pro)
c.1834T>C
n.7118T>C
c.7102T>C (p.Ser2368Pro)
c.7024T>C (p.Ser2342Pro)
c.4408T>C (p.Ser1470Pro)
c.7009T>C (p.Ser2337Pro)
c.223T>C (p.Ser75Pro)
n.7121T>C
5g.90692758T>GCA360371889ADGRV1c.7105T>G (p.Ser2369Ala)
c.265+16549T>G (n.265+16549T>G)
n.2564T>G
c.912T>G
n.249T>G
c.4396T>G (p.Ser1466Ala)
c.1834T>G
n.7118T>G
c.7102T>G (p.Ser2368Ala)
c.7024T>G (p.Ser2342Ala)
c.4408T>G (p.Ser1470Ala)
c.7009T>G (p.Ser2337Ala)
c.223T>G (p.Ser75Ala)
n.7121T>G
5g.90692759C>ACA360371917ADGRV1c.7106C>A (p.Ser2369Tyr)
c.265+16550C>A (n.265+16550C>A)
n.2565C>A
c.913C>A
n.250C>A
c.4397C>A (p.Ser1466Tyr)
c.1835C>A
n.7119C>A
c.7103C>A (p.Ser2368Tyr)
c.7025C>A (p.Ser2342Tyr)
c.4409C>A (p.Ser1470Tyr)
c.7010C>A (p.Ser2337Tyr)
c.224C>A (p.Ser75Tyr)
n.7122C>A
dbSNP COSMIC
5g.90692759C=CA1562859319ADGRV1c.7106C= (p.Ser2369=)
c.265+16550C= (n.265+16550C=)
n.2565C=
c.913C=
n.250C=
c.4397C= (p.Ser1466=)
c.1835C=
n.7119C=
c.7103C= (p.Ser2368=)
c.7025C= (p.Ser2342=)
c.4409C= (p.Ser1470=)
c.7010C= (p.Ser2337=)
c.224C= (p.Ser75=)
n.7122C=
5g.90692759C>GCA360371929ADGRV1c.7106C>G (p.Ser2369Cys)
c.265+16550C>G (n.265+16550C>G)
n.2565C>G
c.913C>G
n.250C>G
c.4397C>G (p.Ser1466Cys)
c.1835C>G
n.7119C>G
c.7103C>G (p.Ser2368Cys)
c.7025C>G (p.Ser2342Cys)
c.4409C>G (p.Ser1470Cys)
c.7010C>G (p.Ser2337Cys)
c.224C>G (p.Ser75Cys)
n.7122C>G
dbSNP
5g.90692759C>TCA360371926ADGRV1c.7106C>T (p.Ser2369Phe)
c.265+16550C>T (n.265+16550C>T)
n.2565C>T
c.913C>T
n.250C>T
c.4397C>T (p.Ser1466Phe)
c.1835C>T
n.7119C>T
c.7103C>T (p.Ser2368Phe)
c.7025C>T (p.Ser2342Phe)
c.4409C>T (p.Ser1470Phe)
c.7010C>T (p.Ser2337Phe)
c.224C>T (p.Ser75Phe)
n.7122C>T
dbSNP
5g.90692759_90692760delCA2674567855ADGRV1c.7106_7107del (p.Ser2369LeufsTer3)
c.265+16550_265+16551del (n.265+16550_265+16551del)
n.2565_2566del
c.913_914del
n.250_251del
c.4397_4398del (p.Ser1466LeufsTer3)
c.1835_1836del
n.7119_7120del
c.7103_7104del (p.Ser2368LeufsTer3)
c.7025_7026del (p.Ser2342LeufsTer3)
c.4409_4410del (p.Ser1470LeufsTer3)
c.7010_7011del (p.Ser2337LeufsTer3)
c.224_225del (p.Ser75LeufsTer3)
n.7122_7123del
gnomAD v4
5g.90692760C>ACA445404585ADGRV1c.7107C>A (p.Ser2369=)
c.265+16551C>A (n.265+16551C>A)
n.2566C>A
c.914C>A
n.251C>A
c.4398C>A (p.Ser1466=)
c.1836C>A
n.7120C>A
c.7104C>A (p.Ser2368=)
c.7026C>A (p.Ser2342=)
c.4410C>A (p.Ser1470=)
c.7011C>A (p.Ser2337=)
c.225C>A (p.Ser75=)
n.7123C>A
5g.90692760C>GCA445404584ADGRV1c.7107C>G (p.Ser2369=)
c.265+16551C>G (n.265+16551C>G)
n.2566C>G
c.914C>G
n.251C>G
c.4398C>G (p.Ser1466=)
c.1836C>G
n.7120C>G
c.7104C>G (p.Ser2368=)
c.7026C>G (p.Ser2342=)
c.4410C>G (p.Ser1470=)
c.7011C>G (p.Ser2337=)
c.225C>G (p.Ser75=)
n.7123C>G
5g.90692760C>TCA445404586ADGRV1c.7107C>T (p.Ser2369=)
c.265+16551C>T (n.265+16551C>T)
n.2566C>T
c.914C>T
n.251C>T
c.4398C>T (p.Ser1466=)
c.1836C>T
n.7120C>T
c.7104C>T (p.Ser2368=)
c.7026C>T (p.Ser2342=)
c.4410C>T (p.Ser1470=)
c.7011C>T (p.Ser2337=)
c.225C>T (p.Ser75=)
n.7123C>T
5g.90692761T>ACA360371932ADGRV1c.7108T>A (p.Cys2370Ser)
c.265+16552T>A (n.265+16552T>A)
n.2567T>A
c.915T>A
n.252T>A
c.4399T>A (p.Cys1467Ser)
c.1837T>A
n.7121T>A
c.7105T>A (p.Cys2369Ser)
c.7027T>A (p.Cys2343Ser)
c.4411T>A (p.Cys1471Ser)
c.7012T>A (p.Cys2338Ser)
c.226T>A (p.Cys76Ser)
n.7124T>A
5g.90692761T>CCA360371939ADGRV1c.7108T>C (p.Cys2370Arg)
c.265+16552T>C (n.265+16552T>C)
n.2567T>C
c.915T>C
n.252T>C
c.4399T>C (p.Cys1467Arg)
c.1837T>C
n.7121T>C
c.7105T>C (p.Cys2369Arg)
c.7027T>C (p.Cys2343Arg)
c.4411T>C (p.Cys1471Arg)
c.7012T>C (p.Cys2338Arg)
c.226T>C (p.Cys76Arg)
n.7124T>C
gnomAD v4
5g.90692761T>GCA360371935ADGRV1c.7108T>G (p.Cys2370Gly)
c.265+16552T>G (n.265+16552T>G)
n.2567T>G
c.915T>G
n.252T>G
c.4399T>G (p.Cys1467Gly)
c.1837T>G
n.7121T>G
c.7105T>G (p.Cys2369Gly)
c.7027T>G (p.Cys2343Gly)
c.4411T>G (p.Cys1471Gly)
c.7012T>G (p.Cys2338Gly)
c.226T>G (p.Cys76Gly)
n.7124T>G
5g.90692762G>ACA3339964ADGRV1c.7109G>A (p.Cys2370Tyr)
c.265+16553G>A (n.265+16553G>A)
n.2568G>A
c.916G>A
n.253G>A
c.4400G>A (p.Cys1467Tyr)
c.1838G>A
n.7122G>A
c.7106G>A (p.Cys2369Tyr)
c.7028G>A (p.Cys2343Tyr)
c.4412G>A (p.Cys1471Tyr)
c.7013G>A (p.Cys2338Tyr)
c.227G>A (p.Cys76Tyr)
n.7125G>A
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692762G>CCA360371945ADGRV1c.7109G>C (p.Cys2370Ser)
c.265+16553G>C (n.265+16553G>C)
n.2568G>C
c.916G>C
n.253G>C
c.4400G>C (p.Cys1467Ser)
c.1838G>C
n.7122G>C
c.7106G>C (p.Cys2369Ser)
c.7028G>C (p.Cys2343Ser)
c.4412G>C (p.Cys1471Ser)
c.7013G>C (p.Cys2338Ser)
c.227G>C (p.Cys76Ser)
n.7125G>C
5g.90692762G=CA1562859320ADGRV1c.7109G= (p.Cys2370=)
c.265+16553G= (n.265+16553G=)
n.2568G=
c.916G=
n.253G=
c.4400G= (p.Cys1467=)
c.1838G=
n.7122G=
c.7106G= (p.Cys2369=)
c.7028G= (p.Cys2343=)
c.4412G= (p.Cys1471=)
c.7013G= (p.Cys2338=)
c.227G= (p.Cys76=)
n.7125G=
5g.90692762G>TCA360371948ADGRV1c.7109G>T (p.Cys2370Phe)
c.265+16553G>T (n.265+16553G>T)
n.2568G>T
c.916G>T
n.253G>T
c.4400G>T (p.Cys1467Phe)
c.1838G>T
n.7122G>T
c.7106G>T (p.Cys2369Phe)
c.7028G>T (p.Cys2343Phe)
c.4412G>T (p.Cys1471Phe)
c.7013G>T (p.Cys2338Phe)
c.227G>T (p.Cys76Phe)
n.7125G>T
gnomAD v4
5g.90692763T>ACA360371954ADGRV1c.7110T>A (p.Cys2370Ter)
c.265+16554T>A (n.265+16554T>A)
n.2569T>A
c.917T>A
n.254T>A
c.4401T>A (p.Cys1467Ter)
c.1839T>A
n.7123T>A
c.7107T>A (p.Cys2369Ter)
c.7029T>A (p.Cys2343Ter)
c.4413T>A (p.Cys1471Ter)
c.7014T>A (p.Cys2338Ter)
c.228T>A (p.Cys76Ter)
n.7126T>A
5g.90692763T>CCA445404589ADGRV1c.7110T>C (p.Cys2370=)
c.265+16554T>C (n.265+16554T>C)
n.2569T>C
c.917T>C
n.254T>C
c.4401T>C (p.Cys1467=)
c.1839T>C
n.7123T>C
c.7107T>C (p.Cys2369=)
c.7029T>C (p.Cys2343=)
c.4413T>C (p.Cys1471=)
c.7014T>C (p.Cys2338=)
c.228T>C (p.Cys76=)
n.7126T>C
ClinVar
5g.90692763T>GCA360371965ADGRV1c.7110T>G (p.Cys2370Trp)
c.265+16554T>G (n.265+16554T>G)
n.2569T>G
c.917T>G
n.254T>G
c.4401T>G (p.Cys1467Trp)
c.1839T>G
n.7123T>G
c.7107T>G (p.Cys2369Trp)
c.7029T>G (p.Cys2343Trp)
c.4413T>G (p.Cys1471Trp)
c.7014T>G (p.Cys2338Trp)
c.228T>G (p.Cys76Trp)
n.7126T>G
5g.90692764G>ACA360371970ADGRV1c.7111G>A (p.Ala2371Thr)
c.265+16555G>A (n.265+16555G>A)
n.2570G>A
c.918G>A
n.255G>A
c.4402G>A (p.Ala1468Thr)
c.1840G>A
n.7124G>A
c.7108G>A (p.Ala2370Thr)
c.7030G>A (p.Ala2344Thr)
c.4414G>A (p.Ala1472Thr)
c.7015G>A (p.Ala2339Thr)
c.229G>A (p.Ala77Thr)
n.7127G>A
gnomAD v4
5g.90692764G>CCA360371976ADGRV1c.7111G>C (p.Ala2371Pro)
c.265+16555G>C (n.265+16555G>C)
n.2570G>C
c.918G>C
n.255G>C
c.4402G>C (p.Ala1468Pro)
c.1840G>C
n.7124G>C
c.7108G>C (p.Ala2370Pro)
c.7030G>C (p.Ala2344Pro)
c.4414G>C (p.Ala1472Pro)
c.7015G>C (p.Ala2339Pro)
c.229G>C (p.Ala77Pro)
n.7127G>C
5g.90692764G>TCA360371979ADGRV1c.7111G>T (p.Ala2371Ser)
c.265+16555G>T (n.265+16555G>T)
n.2570G>T
c.918G>T
n.255G>T
c.4402G>T (p.Ala1468Ser)
c.1840G>T
n.7124G>T
c.7108G>T (p.Ala2370Ser)
c.7030G>T (p.Ala2344Ser)
c.4414G>T (p.Ala1472Ser)
c.7015G>T (p.Ala2339Ser)
c.229G>T (p.Ala77Ser)
n.7127G>T
gnomAD v4
5g.90692765C>ACA360371980ADGRV1c.7112C>A (p.Ala2371Asp)
c.265+16556C>A (n.265+16556C>A)
n.2571C>A
c.919C>A
n.256C>A
c.4403C>A (p.Ala1468Asp)
c.1841C>A
n.7125C>A
c.7109C>A (p.Ala2370Asp)
c.7031C>A (p.Ala2344Asp)
c.4415C>A (p.Ala1472Asp)
c.7016C>A (p.Ala2339Asp)
c.230C>A (p.Ala77Asp)
n.7128C>A
gnomAD v4
5g.90692765C=CA1562859321ADGRV1c.7112C= (p.Ala2371=)
c.265+16556C= (n.265+16556C=)
n.2571C=
c.919C=
n.256C=
c.4403C= (p.Ala1468=)
c.1841C=
n.7125C=
c.7109C= (p.Ala2370=)
c.7031C= (p.Ala2344=)
c.4415C= (p.Ala1472=)
c.7016C= (p.Ala2339=)
c.230C= (p.Ala77=)
n.7128C=
5g.90692765C>GCA360371981ADGRV1c.7112C>G (p.Ala2371Gly)
c.265+16556C>G (n.265+16556C>G)
n.2571C>G
c.919C>G
n.256C>G
c.4403C>G (p.Ala1468Gly)
c.1841C>G
n.7125C>G
c.7109C>G (p.Ala2370Gly)
c.7031C>G (p.Ala2344Gly)
c.4415C>G (p.Ala1472Gly)
c.7016C>G (p.Ala2339Gly)
c.230C>G (p.Ala77Gly)
n.7128C>G
5g.90692765C>TCA360371982ADGRV1c.7112C>T (p.Ala2371Val)
c.265+16556C>T (n.265+16556C>T)
n.2571C>T
c.919C>T
n.256C>T
c.4403C>T (p.Ala1468Val)
c.1841C>T
n.7125C>T
c.7109C>T (p.Ala2370Val)
c.7031C>T (p.Ala2344Val)
c.4415C>T (p.Ala1472Val)
c.7016C>T (p.Ala2339Val)
c.230C>T (p.Ala77Val)
n.7128C>T
dbSNP COSMIC
5g.90692766T>ACA445404593ADGRV1c.7113T>A (p.Ala2371=)
c.265+16557T>A (n.265+16557T>A)
n.2572T>A
c.920T>A
n.257T>A
c.4404T>A (p.Ala1468=)
c.1842T>A
n.7126T>A
c.7110T>A (p.Ala2370=)
c.7032T>A (p.Ala2344=)
c.4416T>A (p.Ala1472=)
c.7017T>A (p.Ala2339=)
c.231T>A (p.Ala77=)
n.7129T>A
5g.90692766T>CCA445404594ADGRV1c.7113T>C (p.Ala2371=)
c.265+16557T>C (n.265+16557T>C)
n.2572T>C
c.920T>C
n.257T>C
c.4404T>C (p.Ala1468=)
c.1842T>C
n.7126T>C
c.7110T>C (p.Ala2370=)
c.7032T>C (p.Ala2344=)
c.4416T>C (p.Ala1472=)
c.7017T>C (p.Ala2339=)
c.231T>C (p.Ala77=)
n.7129T>C
5g.90692766T>GCA445404595ADGRV1c.7113T>G (p.Ala2371=)
c.265+16557T>G (n.265+16557T>G)
n.2572T>G
c.920T>G
n.257T>G
c.4404T>G (p.Ala1468=)
c.1842T>G
n.7126T>G
c.7110T>G (p.Ala2370=)
c.7032T>G (p.Ala2344=)
c.4416T>G (p.Ala1472=)
c.7017T>G (p.Ala2339=)
c.231T>G (p.Ala77=)
n.7129T>G
5g.90692766T=CA1562859322ADGRV1c.7113T= (p.Ala2371=)
c.265+16557T= (n.265+16557T=)
n.2572T=
c.920T=
n.257T=
c.4404T= (p.Ala1468=)
c.1842T=
n.7126T=
c.7110T= (p.Ala2370=)
c.7032T= (p.Ala2344=)
c.4416T= (p.Ala1472=)
c.7017T= (p.Ala2339=)
c.231T= (p.Ala77=)
n.7129T=
5g.90692767A>CCA360371996ADGRV1c.7114A>C (p.Asn2372His)
c.265+16558A>C (n.265+16558A>C)
n.2573A>C
c.921A>C
n.258A>C
c.4405A>C (p.Asn1469His)
c.1843A>C
n.7127A>C
c.7111A>C (p.Asn2371His)
c.7033A>C (p.Asn2345His)
c.4417A>C (p.Asn1473His)
c.7018A>C (p.Asn2340His)
c.232A>C (p.Asn78His)
n.7130A>C
gnomAD v4
5g.90692767A>GCA360371986ADGRV1c.7114A>G (p.Asn2372Asp)
c.265+16558A>G (n.265+16558A>G)
n.2573A>G
c.921A>G
n.258A>G
c.4405A>G (p.Asn1469Asp)
c.1843A>G
n.7127A>G
c.7111A>G (p.Asn2371Asp)
c.7033A>G (p.Asn2345Asp)
c.4417A>G (p.Asn1473Asp)
c.7018A>G (p.Asn2340Asp)
c.232A>G (p.Asn78Asp)
n.7130A>G
5g.90692767A>TCA360371990ADGRV1c.7114A>T (p.Asn2372Tyr)
c.265+16558A>T (n.265+16558A>T)
n.2573A>T
c.921A>T
n.258A>T
c.4405A>T (p.Asn1469Tyr)
c.1843A>T
n.7127A>T
c.7111A>T (p.Asn2371Tyr)
c.7033A>T (p.Asn2345Tyr)
c.4417A>T (p.Asn1473Tyr)
c.7018A>T (p.Asn2340Tyr)
c.232A>T (p.Asn78Tyr)
n.7130A>T
5g.90692768dupCA561259820ADGRV1c.7115dup (p.Asn2372LysfsTer24)
c.265+16559dup (n.265+16559dup)
n.2574dup
c.922dup
n.259dup
c.4406dup (p.Asn1469LysfsTer24)
c.1844dup
n.7128dup
c.7112dup (p.Asn2371LysfsTer24)
c.7034dup (p.Asn2345LysfsTer24)
c.4418dup (p.Asn1473LysfsTer24)
c.7019dup (p.Asn2340LysfsTer24)
c.233dup (p.Asn78LysfsTer24)
n.7131dup
dbSNP gnomAD v2 gnomAD v4
5g.90692768A=CA1562859323ADGRV1c.7115A= (p.Asn2372=)
c.265+16559A= (n.265+16559A=)
n.2574A=
c.922A=
n.259A=
c.4406A= (p.Asn1469=)
c.1844A=
n.7128A=
c.7112A= (p.Asn2371=)
c.7034A= (p.Asn2345=)
c.4418A= (p.Asn1473=)
c.7019A= (p.Asn2340=)
c.233A= (p.Asn78=)
n.7131A=
5g.90692768A>CCA360372000ADGRV1c.7115A>C (p.Asn2372Thr)
c.265+16559A>C (n.265+16559A>C)
n.2574A>C
c.922A>C
n.259A>C
c.4406A>C (p.Asn1469Thr)
c.1844A>C
n.7128A>C
c.7112A>C (p.Asn2371Thr)
c.7034A>C (p.Asn2345Thr)
c.4418A>C (p.Asn1473Thr)
c.7019A>C (p.Asn2340Thr)
c.233A>C (p.Asn78Thr)
n.7131A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90692768A>GCA360372006ADGRV1c.7115A>G (p.Asn2372Ser)
c.265+16559A>G (n.265+16559A>G)
n.2574A>G
c.922A>G
n.259A>G
c.4406A>G (p.Asn1469Ser)
c.1844A>G
n.7128A>G
c.7112A>G (p.Asn2371Ser)
c.7034A>G (p.Asn2345Ser)
c.4418A>G (p.Asn1473Ser)
c.7019A>G (p.Asn2340Ser)
c.233A>G (p.Asn78Ser)
n.7131A>G
dbSNP gnomAD v2 gnomAD v4
5g.90692768A>TCA360372009ADGRV1c.7115A>T (p.Asn2372Ile)
c.265+16559A>T (n.265+16559A>T)
n.2574A>T
c.922A>T
n.259A>T
c.4406A>T (p.Asn1469Ile)
c.1844A>T
n.7128A>T
c.7112A>T (p.Asn2371Ile)
c.7034A>T (p.Asn2345Ile)
c.4418A>T (p.Asn1473Ile)
c.7019A>T (p.Asn2340Ile)
c.233A>T (p.Asn78Ile)
n.7131A>T
5g.90692769T>ACA360372013ADGRV1c.7116T>A (p.Asn2372Lys)
c.265+16560T>A (n.265+16560T>A)
n.2575T>A
c.923T>A
n.260T>A
c.4407T>A (p.Asn1469Lys)
c.1845T>A
n.7129T>A
c.7113T>A (p.Asn2371Lys)
c.7035T>A (p.Asn2345Lys)
c.4419T>A (p.Asn1473Lys)
c.7020T>A (p.Asn2340Lys)
c.234T>A (p.Asn78Lys)
n.7132T>A
5g.90692769T>CCA445404599ADGRV1c.7116T>C (p.Asn2372=)
c.265+16560T>C (n.265+16560T>C)
n.2575T>C
c.923T>C
n.260T>C
c.4407T>C (p.Asn1469=)
c.1845T>C
n.7129T>C
c.7113T>C (p.Asn2371=)
c.7035T>C (p.Asn2345=)
c.4419T>C (p.Asn1473=)
c.7020T>C (p.Asn2340=)
c.234T>C (p.Asn78=)
n.7132T>C
gnomAD v4
5g.90692769T>GCA122797192ADGRV1c.7116T>G (p.Asn2372Lys)
c.265+16560T>G (n.265+16560T>G)
n.2575T>G
c.923T>G
n.260T>G
c.4407T>G (p.Asn1469Lys)
c.1845T>G
n.7129T>G
c.7113T>G (p.Asn2371Lys)
c.7035T>G (p.Asn2345Lys)
c.4419T>G (p.Asn1473Lys)
c.7020T>G (p.Asn2340Lys)
c.234T>G (p.Asn78Lys)
n.7132T>G
dbSNP
5g.90692769T=CA1562859324ADGRV1c.7116T= (p.Asn2372=)
c.265+16560T= (n.265+16560T=)
n.2575T=
c.923T=
n.260T=
c.4407T= (p.Asn1469=)
c.1845T=
n.7129T=
c.7113T= (p.Asn2371=)
c.7035T= (p.Asn2345=)
c.4419T= (p.Asn1473=)
c.7020T= (p.Asn2340=)
c.234T= (p.Asn78=)
n.7132T=
5g.90692770A>CCA360372020ADGRV1c.7117A>C (p.Ile2373Leu)
c.265+16561A>C (n.265+16561A>C)
n.2576A>C
c.924A>C
n.261A>C
c.4408A>C (p.Ile1470Leu)
c.1846A>C
n.7130A>C
c.7114A>C (p.Ile2372Leu)
c.7036A>C (p.Ile2346Leu)
c.4420A>C (p.Ile1474Leu)
c.7021A>C (p.Ile2341Leu)
c.235A>C (p.Ile79Leu)
n.7133A>C
5g.90692770A>GCA360372023ADGRV1c.7117A>G (p.Ile2373Val)
c.265+16561A>G (n.265+16561A>G)
n.2576A>G
c.924A>G
n.261A>G
c.4408A>G (p.Ile1470Val)
c.1846A>G
n.7130A>G
c.7114A>G (p.Ile2372Val)
c.7036A>G (p.Ile2346Val)
c.4420A>G (p.Ile1474Val)
c.7021A>G (p.Ile2341Val)
c.235A>G (p.Ile79Val)
n.7133A>G
5g.90692770A>TCA360372026ADGRV1c.7117A>T (p.Ile2373Leu)
c.265+16561A>T (n.265+16561A>T)
n.2576A>T
c.924A>T
n.261A>T
c.4408A>T (p.Ile1470Leu)
c.1846A>T
n.7130A>T
c.7114A>T (p.Ile2372Leu)
c.7036A>T (p.Ile2346Leu)
c.4420A>T (p.Ile1474Leu)
c.7021A>T (p.Ile2341Leu)
c.235A>T (p.Ile79Leu)
n.7133A>T
5g.90692771T>ACA360372031ADGRV1c.7118T>A (p.Ile2373Lys)
c.265+16562T>A (n.265+16562T>A)
n.2577T>A
c.925T>A
n.262T>A
c.4409T>A (p.Ile1470Lys)
c.1847T>A
n.7131T>A
c.7115T>A (p.Ile2372Lys)
c.7037T>A (p.Ile2346Lys)
c.4421T>A (p.Ile1474Lys)
c.7022T>A (p.Ile2341Lys)
c.236T>A (p.Ile79Lys)
n.7134T>A
5g.90692771T>CCA360372041ADGRV1c.7118T>C (p.Ile2373Thr)
c.265+16562T>C (n.265+16562T>C)
n.2577T>C
c.925T>C
n.262T>C
c.4409T>C (p.Ile1470Thr)
c.1847T>C
n.7131T>C
c.7115T>C (p.Ile2372Thr)
c.7037T>C (p.Ile2346Thr)
c.4421T>C (p.Ile1474Thr)
c.7022T>C (p.Ile2341Thr)
c.236T>C (p.Ile79Thr)
n.7134T>C
dbSNP gnomAD v4
5g.90692771T>GCA3339965ADGRV1c.7118T>G (p.Ile2373Arg)
c.265+16562T>G (n.265+16562T>G)
n.2577T>G
c.925T>G
n.262T>G
c.4409T>G (p.Ile1470Arg)
c.1847T>G
n.7131T>G
c.7115T>G (p.Ile2372Arg)
c.7037T>G (p.Ile2346Arg)
c.4421T>G (p.Ile1474Arg)
c.7022T>G (p.Ile2341Arg)
c.236T>G (p.Ile79Arg)
n.7134T>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.90692771T=CA1562859325ADGRV1c.7118T= (p.Ile2373=)
c.265+16562T= (n.265+16562T=)
n.2577T=
c.925T=
n.262T=
c.4409T= (p.Ile1470=)
c.1847T=
n.7131T=
c.7115T= (p.Ile2372=)
c.7037T= (p.Ile2346=)
c.4421T= (p.Ile1474=)
c.7022T= (p.Ile2341=)
c.236T= (p.Ile79=)
n.7134T=
5g.90692772A>CCA445404603ADGRV1c.7119A>C (p.Ile2373=)
c.265+16563A>C (n.265+16563A>C)
n.2578A>C
c.926A>C
n.263A>C
c.4410A>C (p.Ile1470=)
c.1848A>C
n.7132A>C
c.7116A>C (p.Ile2372=)
c.7038A>C (p.Ile2346=)
c.4422A>C (p.Ile1474=)
c.7023A>C (p.Ile2341=)
c.237A>C (p.Ile79=)
n.7135A>C
5g.90692772A>GCA360372050ADGRV1c.7119A>G (p.Ile2373Met)
c.265+16563A>G (n.265+16563A>G)
n.2578A>G
c.926A>G
n.263A>G
c.4410A>G (p.Ile1470Met)
c.1848A>G
n.7132A>G
c.7116A>G (p.Ile2372Met)
c.7038A>G (p.Ile2346Met)
c.4422A>G (p.Ile1474Met)
c.7023A>G (p.Ile2341Met)
c.237A>G (p.Ile79Met)
n.7135A>G
ClinVar
5g.90692772A>TCA445404604ADGRV1c.7119A>T (p.Ile2373=)
c.265+16563A>T (n.265+16563A>T)
n.2578A>T
c.926A>T
n.263A>T
c.4410A>T (p.Ile1470=)
c.1848A>T
n.7132A>T
c.7116A>T (p.Ile2372=)
c.7038A>T (p.Ile2346=)
c.4422A>T (p.Ile1474=)
c.7023A>T (p.Ile2341=)
c.237A>T (p.Ile79=)
n.7135A>T
5g.90692773A>CCA360372060ADGRV1c.7120A>C (p.Thr2374Pro)
c.265+16564A>C (n.265+16564A>C)
n.2579A>C
c.927A>C
n.264A>C
c.4411A>C (p.Thr1471Pro)
c.1849A>C
n.7133A>C
c.7117A>C (p.Thr2373Pro)
c.7039A>C (p.Thr2347Pro)
c.4423A>C (p.Thr1475Pro)
c.7024A>C (p.Thr2342Pro)
c.238A>C (p.Thr80Pro)
n.7136A>C
5g.90692773A>GCA360372054ADGRV1c.7120A>G (p.Thr2374Ala)
c.265+16564A>G (n.265+16564A>G)
n.2579A>G
c.927A>G
n.264A>G
c.4411A>G (p.Thr1471Ala)
c.1849A>G
n.7133A>G
c.7117A>G (p.Thr2373Ala)
c.7039A>G (p.Thr2347Ala)
c.4423A>G (p.Thr1475Ala)
c.7024A>G (p.Thr2342Ala)
c.238A>G (p.Thr80Ala)
n.7136A>G
5g.90692773A>TCA360372056ADGRV1c.7120A>T (p.Thr2374Ser)
c.265+16564A>T (n.265+16564A>T)
n.2579A>T
c.927A>T
n.264A>T
c.4411A>T (p.Thr1471Ser)
c.1849A>T
n.7133A>T
c.7117A>T (p.Thr2373Ser)
c.7039A>T (p.Thr2347Ser)
c.4423A>T (p.Thr1475Ser)
c.7024A>T (p.Thr2342Ser)
c.238A>T (p.Thr80Ser)
n.7136A>T
gnomAD v4
5g.90692774C>ACA360372064ADGRV1c.7121C>A (p.Thr2374Asn)
c.265+16565C>A (n.265+16565C>A)
n.2580C>A
c.928C>A
n.265C>A
c.4412C>A (p.Thr1471Asn)
c.1850C>A
n.7134C>A
c.7118C>A (p.Thr2373Asn)
c.7040C>A (p.Thr2347Asn)
c.4424C>A (p.Thr1475Asn)
c.7025C>A (p.Thr2342Asn)
c.239C>A (p.Thr80Asn)
n.7137C>A
gnomAD v4
5g.90692774C>GCA360372068ADGRV1c.7121C>G (p.Thr2374Ser)
c.265+16565C>G (n.265+16565C>G)
n.2580C>G
c.928C>G
n.265C>G
c.4412C>G (p.Thr1471Ser)
c.1850C>G
n.7134C>G
c.7118C>G (p.Thr2373Ser)
c.7040C>G (p.Thr2347Ser)
c.4424C>G (p.Thr1475Ser)
c.7025C>G (p.Thr2342Ser)
c.239C>G (p.Thr80Ser)
n.7137C>G
5g.90692774C>TCA360372071ADGRV1c.7121C>T (p.Thr2374Ile)
c.265+16565C>T (n.265+16565C>T)
n.2580C>T
c.928C>T
n.265C>T
c.4412C>T (p.Thr1471Ile)
c.1850C>T
n.7134C>T
c.7118C>T (p.Thr2373Ile)
c.7040C>T (p.Thr2347Ile)
c.4424C>T (p.Thr1475Ile)
c.7025C>T (p.Thr2342Ile)
c.239C>T (p.Thr80Ile)
n.7137C>T
5g.90692775T>ACA445404611ADGRV1c.7122T>A (p.Thr2374=)
c.265+16566T>A (n.265+16566T>A)
n.2581T>A
c.929T>A
n.266T>A
c.4413T>A (p.Thr1471=)
c.1851T>A
n.7135T>A
c.7119T>A (p.Thr2373=)
c.7041T>A (p.Thr2347=)
c.4425T>A (p.Thr1475=)
c.7026T>A (p.Thr2342=)
c.240T>A (p.Thr80=)
n.7138T>A
5g.90692775T>CCA445404612ADGRV1c.7122T>C (p.Thr2374=)
c.265+16566T>C (n.265+16566T>C)
n.2581T>C
c.929T>C
n.266T>C
c.4413T>C (p.Thr1471=)
c.1851T>C
n.7135T>C
c.7119T>C (p.Thr2373=)
c.7041T>C (p.Thr2347=)
c.4425T>C (p.Thr1475=)
c.7026T>C (p.Thr2342=)
c.240T>C (p.Thr80=)
n.7138T>C
5g.90692775T>GCA3339966ADGRV1c.7122T>G (p.Thr2374=)
c.265+16566T>G (n.265+16566T>G)
n.2581T>G
c.929T>G
n.266T>G
c.4413T>G (p.Thr1471=)
c.1851T>G
n.7135T>G
c.7119T>G (p.Thr2373=)
c.7041T>G (p.Thr2347=)
c.4425T>G (p.Thr1475=)
c.7026T>G (p.Thr2342=)
c.240T>G (p.Thr80=)
n.7138T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692775T=CA1562859326ADGRV1c.7122T= (p.Thr2374=)
c.265+16566T= (n.265+16566T=)
n.2581T=
c.929T=
n.266T=
c.4413T= (p.Thr1471=)
c.1851T=
n.7135T=
c.7119T= (p.Thr2373=)
c.7041T= (p.Thr2347=)
c.4425T= (p.Thr1475=)
c.7026T= (p.Thr2342=)
c.240T= (p.Thr80=)
n.7138T=
5g.90692776G>ACA360372078ADGRV1c.7123G>A (p.Val2375Ile)
c.265+16567G>A (n.265+16567G>A)
n.2582G>A
c.930G>A
n.267G>A
c.4414G>A (p.Val1472Ile)
c.1852G>A
n.7136G>A
c.7120G>A (p.Val2374Ile)
c.7042G>A (p.Val2348Ile)
c.4426G>A (p.Val1476Ile)
c.7027G>A (p.Val2343Ile)
c.241G>A (p.Val81Ile)
n.7139G>A
5g.90692776G>CCA360372083ADGRV1c.7123G>C (p.Val2375Leu)
c.265+16567G>C (n.265+16567G>C)
n.2582G>C
c.930G>C
n.267G>C
c.4414G>C (p.Val1472Leu)
c.1852G>C
n.7136G>C
c.7120G>C (p.Val2374Leu)
c.7042G>C (p.Val2348Leu)
c.4426G>C (p.Val1476Leu)
c.7027G>C (p.Val2343Leu)
c.241G>C (p.Val81Leu)
n.7139G>C
5g.90692776G>TCA360372086ADGRV1c.7123G>T (p.Val2375Phe)
c.265+16567G>T (n.265+16567G>T)
n.2582G>T
c.930G>T
n.267G>T
c.4414G>T (p.Val1472Phe)
c.1852G>T
n.7136G>T
c.7120G>T (p.Val2374Phe)
c.7042G>T (p.Val2348Phe)
c.4426G>T (p.Val1476Phe)
c.7027G>T (p.Val2343Phe)
c.241G>T (p.Val81Phe)
n.7139G>T
gnomAD v4
5g.90692777T>ACA360372087ADGRV1c.7124T>A (p.Val2375Asp)
c.265+16568T>A (n.265+16568T>A)
n.2583T>A
c.931T>A
n.268T>A
c.4415T>A (p.Val1472Asp)
c.1853T>A
n.7137T>A
c.7121T>A (p.Val2374Asp)
c.7043T>A (p.Val2348Asp)
c.4427T>A (p.Val1476Asp)
c.7028T>A (p.Val2343Asp)
c.242T>A (p.Val81Asp)
n.7140T>A
5g.90692777T>CCA360372089ADGRV1c.7124T>C (p.Val2375Ala)
c.265+16568T>C (n.265+16568T>C)
n.2583T>C
c.931T>C
n.268T>C
c.4415T>C (p.Val1472Ala)
c.1853T>C
n.7137T>C
c.7121T>C (p.Val2374Ala)
c.7043T>C (p.Val2348Ala)
c.4427T>C (p.Val1476Ala)
c.7028T>C (p.Val2343Ala)
c.242T>C (p.Val81Ala)
n.7140T>C
gnomAD v4
5g.90692777T>GCA360372093ADGRV1c.7124T>G (p.Val2375Gly)
c.265+16568T>G (n.265+16568T>G)
n.2583T>G
c.931T>G
n.268T>G
c.4415T>G (p.Val1472Gly)
c.1853T>G
n.7137T>G
c.7121T>G (p.Val2374Gly)
c.7043T>G (p.Val2348Gly)
c.4427T>G (p.Val1476Gly)
c.7028T>G (p.Val2343Gly)
c.242T>G (p.Val81Gly)
n.7140T>G
5g.90692777dupCA2573140007ADGRV1c.7124dup (p.Arg2376GlnfsTer20)
c.265+16568dup (n.265+16568dup)
n.2583dup
c.931dup
n.268dup
c.4415dup (p.Arg1473GlnfsTer20)
c.1853dup
n.7137dup
c.7121dup (p.Arg2375GlnfsTer20)
c.7043dup (p.Arg2349GlnfsTer20)
c.4427dup (p.Arg1477GlnfsTer20)
c.7028dup (p.Arg2344GlnfsTer20)
c.242dup (p.Arg82GlnfsTer20)
n.7140dup
ClinVar dbSNP
5g.90692778C>ACA445404614ADGRV1c.7125C>A (p.Val2375=)
c.265+16569C>A (n.265+16569C>A)
n.2584C>A
c.932C>A
n.269C>A
c.4416C>A (p.Val1472=)
c.1854C>A
n.7138C>A
c.7122C>A (p.Val2374=)
c.7044C>A (p.Val2348=)
c.4428C>A (p.Val1476=)
c.7029C>A (p.Val2343=)
c.243C>A (p.Val81=)
n.7141C>A
gnomAD v4
5g.90692778C>GCA445404615ADGRV1c.7125C>G (p.Val2375=)
c.265+16569C>G (n.265+16569C>G)
n.2584C>G
c.932C>G
n.269C>G
c.4416C>G (p.Val1472=)
c.1854C>G
n.7138C>G
c.7122C>G (p.Val2374=)
c.7044C>G (p.Val2348=)
c.4428C>G (p.Val1476=)
c.7029C>G (p.Val2343=)
c.243C>G (p.Val81=)
n.7141C>G
5g.90692778C>TCA445404616ADGRV1c.7125C>T (p.Val2375=)
c.265+16569C>T (n.265+16569C>T)
n.2584C>T
c.932C>T
n.269C>T
c.4416C>T (p.Val1472=)
c.1854C>T
n.7138C>T
c.7122C>T (p.Val2374=)
c.7044C>T (p.Val2348=)
c.4428C>T (p.Val1476=)
c.7029C>T (p.Val2343=)
c.243C>T (p.Val81=)
n.7141C>T
ClinVar gnomAD v4
5g.90692779A>CCA445404617ADGRV1c.7126A>C (p.Arg2376=)
c.265+16570A>C (n.265+16570A>C)
n.2585A>C
c.933A>C
n.270A>C
c.4417A>C (p.Arg1473=)
c.1855A>C
n.7139A>C
c.7123A>C (p.Arg2375=)
c.7045A>C (p.Arg2349=)
c.4429A>C (p.Arg1477=)
c.7030A>C (p.Arg2344=)
c.244A>C (p.Arg82=)
n.7142A>C
5g.90692779A>GCA360372095ADGRV1c.7126A>G (p.Arg2376Gly)
c.265+16570A>G (n.265+16570A>G)
n.2585A>G
c.933A>G
n.270A>G
c.4417A>G (p.Arg1473Gly)
c.1855A>G
n.7139A>G
c.7123A>G (p.Arg2375Gly)
c.7045A>G (p.Arg2349Gly)
c.4429A>G (p.Arg1477Gly)
c.7030A>G (p.Arg2344Gly)
c.244A>G (p.Arg82Gly)
n.7142A>G
ClinVar dbSNP gnomAD v4
5g.90692779A>TCA360372094ADGRV1c.7126A>T (p.Arg2376Trp)
c.265+16570A>T (n.265+16570A>T)
n.2585A>T
c.933A>T
n.270A>T
c.4417A>T (p.Arg1473Trp)
c.1855A>T
n.7139A>T
c.7123A>T (p.Arg2375Trp)
c.7045A>T (p.Arg2349Trp)
c.4429A>T (p.Arg1477Trp)
c.7030A>T (p.Arg2344Trp)
c.244A>T (p.Arg82Trp)
n.7142A>T
5g.90692780G>ACA360372096ADGRV1c.7127G>A (p.Arg2376Lys)
c.265+16571G>A (n.265+16571G>A)
n.2586G>A
c.934G>A
n.271G>A
c.4418G>A (p.Arg1473Lys)
c.1856G>A
n.7140G>A
c.7124G>A (p.Arg2375Lys)
c.7046G>A (p.Arg2349Lys)
c.4430G>A (p.Arg1477Lys)
c.7031G>A (p.Arg2344Lys)
c.245G>A (p.Arg82Lys)
n.7143G>A
5g.90692780G>CCA360372100ADGRV1c.7127G>C (p.Arg2376Thr)
c.265+16571G>C (n.265+16571G>C)
n.2586G>C
c.934G>C
n.271G>C
c.4418G>C (p.Arg1473Thr)
c.1856G>C
n.7140G>C
c.7124G>C (p.Arg2375Thr)
c.7046G>C (p.Arg2349Thr)
c.4430G>C (p.Arg1477Thr)
c.7031G>C (p.Arg2344Thr)
c.245G>C (p.Arg82Thr)
n.7143G>C
5g.90692780G>TCA360372101ADGRV1c.7127G>T (p.Arg2376Met)
c.265+16571G>T (n.265+16571G>T)
n.2586G>T
c.934G>T
n.271G>T
c.4418G>T (p.Arg1473Met)
c.1856G>T
n.7140G>T
c.7124G>T (p.Arg2375Met)
c.7046G>T (p.Arg2349Met)
c.4430G>T (p.Arg1477Met)
c.7031G>T (p.Arg2344Met)
c.245G>T (p.Arg82Met)
n.7143G>T
5g.90692781G>ACA445404621ADGRV1c.7128G>A (p.Arg2376=)
c.265+16572G>A (n.265+16572G>A)
n.2587G>A
c.935G>A
n.272G>A
c.4419G>A (p.Arg1473=)
c.1857G>A
n.7141G>A
c.7125G>A (p.Arg2375=)
c.7047G>A (p.Arg2349=)
c.4431G>A (p.Arg1477=)
c.7032G>A (p.Arg2344=)
c.246G>A (p.Arg82=)
n.7144G>A
dbSNP gnomAD v3 gnomAD v4
5g.90692781G>CCA360372104ADGRV1c.7128G>C (p.Arg2376Ser)
c.265+16572G>C (n.265+16572G>C)
n.2587G>C
c.935G>C
n.272G>C
c.4419G>C (p.Arg1473Ser)
c.1857G>C
n.7141G>C
c.7125G>C (p.Arg2375Ser)
c.7047G>C (p.Arg2349Ser)
c.4431G>C (p.Arg1477Ser)
c.7032G>C (p.Arg2344Ser)
c.246G>C (p.Arg82Ser)
n.7144G>C
COSMIC
5g.90692781G=CA1562859327ADGRV1c.7128G= (p.Arg2376=)
c.265+16572G= (n.265+16572G=)
n.2587G=
c.935G=
n.272G=
c.4419G= (p.Arg1473=)
c.1857G=
n.7141G=
c.7125G= (p.Arg2375=)
c.7047G= (p.Arg2349=)
c.4431G= (p.Arg1477=)
c.7032G= (p.Arg2344=)
c.246G= (p.Arg82=)
n.7144G=
5g.90692781G>TCA360372114ADGRV1c.7128G>T (p.Arg2376Ser)
c.265+16572G>T (n.265+16572G>T)
n.2587G>T
c.935G>T
n.272G>T
c.4419G>T (p.Arg1473Ser)
c.1857G>T
n.7141G>T
c.7125G>T (p.Arg2375Ser)
c.7047G>T (p.Arg2349Ser)
c.4431G>T (p.Arg1477Ser)
c.7032G>T (p.Arg2344Ser)
c.246G>T (p.Arg82Ser)
n.7144G>T
gnomAD v4
5g.90692782C>ACA445404624ADGRV1c.7129C>A (p.Arg2377=)
c.265+16573C>A (n.265+16573C>A)
n.2588C>A
c.936C>A
n.273C>A
c.4420C>A (p.Arg1474=)
c.1858C>A
n.7142C>A
c.7126C>A (p.Arg2376=)
c.7048C>A (p.Arg2350=)
c.4432C>A (p.Arg1478=)
c.7033C>A (p.Arg2345=)
c.247C>A (p.Arg83=)
n.7145C>A
gnomAD v4
5g.90692782C=CA1562859328ADGRV1c.7129C= (p.Arg2377=)
c.265+16573C= (n.265+16573C=)
n.2588C=
c.936C=
n.273C=
c.4420C= (p.Arg1474=)
c.1858C=
n.7142C=
c.7126C= (p.Arg2376=)
c.7048C= (p.Arg2350=)
c.4432C= (p.Arg1478=)
c.7033C= (p.Arg2345=)
c.247C= (p.Arg83=)
n.7145C=
5g.90692782C>GCA360372119ADGRV1c.7129C>G (p.Arg2377Gly)
c.265+16573C>G (n.265+16573C>G)
n.2588C>G
c.936C>G
n.273C>G
c.4420C>G (p.Arg1474Gly)
c.1858C>G
n.7142C>G
c.7126C>G (p.Arg2376Gly)
c.7048C>G (p.Arg2350Gly)
c.4432C>G (p.Arg1478Gly)
c.7033C>G (p.Arg2345Gly)
c.247C>G (p.Arg83Gly)
n.7145C>G
5g.90692782C>TCA3339967ADGRV1c.7129C>T (p.Arg2377Ter)
c.265+16573C>T (n.265+16573C>T)
n.2588C>T
c.936C>T
n.273C>T
c.4420C>T (p.Arg1474Ter)
c.1858C>T
n.7142C>T
c.7126C>T (p.Arg2376Ter)
c.7048C>T (p.Arg2350Ter)
c.4432C>T (p.Arg1478Ter)
c.7033C>T (p.Arg2345Ter)
c.247C>T (p.Arg83Ter)
n.7145C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692783G>ACA360372133ADGRV1c.7130G>A (p.Arg2377Gln)
c.265+16574G>A (n.265+16574G>A)
n.2589G>A
c.937G>A
n.274G>A
c.4421G>A (p.Arg1474Gln)
c.1859G>A
n.7143G>A
c.7127G>A (p.Arg2376Gln)
c.7049G>A (p.Arg2350Gln)
c.4433G>A (p.Arg1478Gln)
c.7034G>A (p.Arg2345Gln)
c.248G>A (p.Arg83Gln)
n.7146G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90692783G>CCA360372143ADGRV1c.7130G>C (p.Arg2377Pro)
c.265+16574G>C (n.265+16574G>C)
n.2589G>C
c.937G>C
n.274G>C
c.4421G>C (p.Arg1474Pro)
c.1859G>C
n.7143G>C
c.7127G>C (p.Arg2376Pro)
c.7049G>C (p.Arg2350Pro)
c.4433G>C (p.Arg1478Pro)
c.7034G>C (p.Arg2345Pro)
c.248G>C (p.Arg83Pro)
n.7146G>C
5g.90692783G=CA1562859329ADGRV1c.7130G= (p.Arg2377=)
c.265+16574G= (n.265+16574G=)
n.2589G=
c.937G=
n.274G=
c.4421G= (p.Arg1474=)
c.1859G=
n.7143G=
c.7127G= (p.Arg2376=)
c.7049G= (p.Arg2350=)
c.4433G= (p.Arg1478=)
c.7034G= (p.Arg2345=)
c.248G= (p.Arg83=)
n.7146G=
5g.90692783G>TCA3339968ADGRV1c.7130G>T (p.Arg2377Leu)
c.265+16574G>T (n.265+16574G>T)
n.2589G>T
c.937G>T
n.274G>T
c.4421G>T (p.Arg1474Leu)
c.1859G>T
n.7143G>T
c.7127G>T (p.Arg2376Leu)
c.7049G>T (p.Arg2350Leu)
c.4433G>T (p.Arg1478Leu)
c.7034G>T (p.Arg2345Leu)
c.248G>T (p.Arg83Leu)
n.7146G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90692784A>CCA445404626ADGRV1c.7131A>C (p.Arg2377=)
c.265+16575A>C (n.265+16575A>C)
n.2590A>C
c.938A>C
n.275A>C
c.4422A>C (p.Arg1474=)
c.1860A>C
n.7144A>C
c.7128A>C (p.Arg2376=)
c.7050A>C (p.Arg2350=)
c.4434A>C (p.Arg1478=)
c.7035A>C (p.Arg2345=)
c.249A>C (p.Arg83=)
n.7147A>C
ClinVar gnomAD v4
5g.90692784A>GCA445404627ADGRV1c.7131A>G (p.Arg2377=)
c.265+16575A>G (n.265+16575A>G)
n.2590A>G
c.938A>G
n.275A>G
c.4422A>G (p.Arg1474=)
c.1860A>G
n.7144A>G
c.7128A>G (p.Arg2376=)
c.7050A>G (p.Arg2350=)
c.4434A>G (p.Arg1478=)
c.7035A>G (p.Arg2345=)
c.249A>G (p.Arg83=)
n.7147A>G
5g.90692784A>TCA445404628ADGRV1c.7131A>T (p.Arg2377=)
c.265+16575A>T (n.265+16575A>T)
n.2590A>T
c.938A>T
n.275A>T
c.4422A>T (p.Arg1474=)
c.1860A>T
n.7144A>T
c.7128A>T (p.Arg2376=)
c.7050A>T (p.Arg2350=)
c.4434A>T (p.Arg1478=)
c.7035A>T (p.Arg2345=)
c.249A>T (p.Arg83=)
n.7147A>T
5g.90692785A>CCA360372159ADGRV1c.7132A>C (p.Ser2378Arg)
c.265+16576A>C (n.265+16576A>C)
n.2591A>C
c.939A>C
n.276A>C
c.4423A>C (p.Ser1475Arg)
c.1861A>C
n.7145A>C
c.7129A>C (p.Ser2377Arg)
c.7051A>C (p.Ser2351Arg)
c.4435A>C (p.Ser1479Arg)
c.7036A>C (p.Ser2346Arg)
c.250A>C (p.Ser84Arg)
n.7148A>C
5g.90692785A>GCA360372160ADGRV1c.7132A>G (p.Ser2378Gly)
c.265+16576A>G (n.265+16576A>G)
n.2591A>G
c.939A>G
n.276A>G
c.4423A>G (p.Ser1475Gly)
c.1861A>G
n.7145A>G
c.7129A>G (p.Ser2377Gly)
c.7051A>G (p.Ser2351Gly)
c.4435A>G (p.Ser1479Gly)
c.7036A>G (p.Ser2346Gly)
c.250A>G (p.Ser84Gly)
n.7148A>G
5g.90692785A>TCA360372161ADGRV1c.7132A>T (p.Ser2378Cys)
c.265+16576A>T (n.265+16576A>T)
n.2591A>T
c.939A>T
n.276A>T
c.4423A>T (p.Ser1475Cys)
c.1861A>T
n.7145A>T
c.7129A>T (p.Ser2377Cys)
c.7051A>T (p.Ser2351Cys)
c.4435A>T (p.Ser1479Cys)
c.7036A>T (p.Ser2346Cys)
c.250A>T (p.Ser84Cys)
n.7148A>T
5g.90692786G>ACA360372165ADGRV1c.7133G>A (p.Ser2378Asn)
c.265+16577G>A (n.265+16577G>A)
n.2592G>A
c.940G>A
n.277G>A
c.4424G>A (p.Ser1475Asn)
c.1862G>A
n.7146G>A
c.7130G>A (p.Ser2377Asn)
c.7052G>A (p.Ser2351Asn)
c.4436G>A (p.Ser1479Asn)
c.7037G>A (p.Ser2346Asn)
c.251G>A (p.Ser84Asn)
n.7149G>A
5g.90692786G>CCA360372167ADGRV1c.7133G>C (p.Ser2378Thr)
c.265+16577G>C (n.265+16577G>C)
n.2592G>C
c.940G>C
n.277G>C
c.4424G>C (p.Ser1475Thr)
c.1862G>C
n.7146G>C
c.7130G>C (p.Ser2377Thr)
c.7052G>C (p.Ser2351Thr)
c.4436G>C (p.Ser1479Thr)
c.7037G>C (p.Ser2346Thr)
c.251G>C (p.Ser84Thr)
n.7149G>C
5g.90692786G>TCA360372162ADGRV1c.7133G>T (p.Ser2378Ile)
c.265+16577G>T (n.265+16577G>T)
n.2592G>T
c.940G>T
n.277G>T
c.4424G>T (p.Ser1475Ile)
c.1862G>T
n.7146G>T
c.7130G>T (p.Ser2377Ile)
c.7052G>T (p.Ser2351Ile)
c.4436G>T (p.Ser1479Ile)
c.7037G>T (p.Ser2346Ile)
c.251G>T (p.Ser84Ile)
n.7149G>T
gnomAD v4
5g.90692787G>ACA360372177ADGRV1c.7133+1G>A (n.7133+1G>A)
c.265+16578G>A (n.265+16578G>A)
n.2592+1G>A
c.940+1G>A
n.277+1G>A
c.4424+1G>A (n.4424+1G>A)
c.1862+1G>A
n.7146+1G>A
c.7130+1G>A (n.7130+1G>A)
c.7052+1G>A (n.7052+1G>A)
c.4436+1G>A (n.4436+1G>A)
c.7037+1G>A (n.7037+1G>A)
c.251+1G>A (n.251+1G>A)
n.7149+1G>A
5g.90692787G>CCA360372173ADGRV1c.7133+1G>C (n.7133+1G>C)
c.265+16578G>C (n.265+16578G>C)
n.2592+1G>C
c.940+1G>C
n.277+1G>C
c.4424+1G>C (n.4424+1G>C)
c.1862+1G>C
n.7146+1G>C
c.7130+1G>C (n.7130+1G>C)
c.7052+1G>C (n.7052+1G>C)
c.4436+1G>C (n.4436+1G>C)
c.7037+1G>C (n.7037+1G>C)
c.251+1G>C (n.251+1G>C)
n.7149+1G>C
5g.90692787G>TCA360372181ADGRV1c.7133+1G>T (n.7133+1G>T)
c.265+16578G>T (n.265+16578G>T)
n.2592+1G>T
c.940+1G>T
n.277+1G>T
c.4424+1G>T (n.4424+1G>T)
c.1862+1G>T
n.7146+1G>T
c.7130+1G>T (n.7130+1G>T)
c.7052+1G>T (n.7052+1G>T)
c.4436+1G>T (n.4436+1G>T)
c.7037+1G>T (n.7037+1G>T)
c.251+1G>T (n.251+1G>T)
n.7149+1G>T
5g.90692788T>ACA360372185ADGRV1c.7133+2T>A (n.7133+2T>A)
c.265+16579T>A (n.265+16579T>A)
n.2592+2T>A
c.940+2T>A
n.277+2T>A
c.4424+2T>A (n.4424+2T>A)
c.1862+2T>A
n.7146+2T>A
c.7130+2T>A (n.7130+2T>A)
c.7052+2T>A (n.7052+2T>A)
c.4436+2T>A (n.4436+2T>A)
c.7037+2T>A (n.7037+2T>A)
c.251+2T>A (n.251+2T>A)
n.7149+2T>A
5g.90692788T>CCA360372188ADGRV1c.7133+2T>C (n.7133+2T>C)
c.265+16579T>C (n.265+16579T>C)
n.2592+2T>C
c.940+2T>C
n.277+2T>C
c.4424+2T>C (n.4424+2T>C)
c.1862+2T>C
n.7146+2T>C
c.7130+2T>C (n.7130+2T>C)
c.7052+2T>C (n.7052+2T>C)
c.4436+2T>C (n.4436+2T>C)
c.7037+2T>C (n.7037+2T>C)
c.251+2T>C (n.251+2T>C)
n.7149+2T>C
gnomAD v4
5g.90692788T>GCA360372191ADGRV1c.7133+2T>G (n.7133+2T>G)
c.265+16579T>G (n.265+16579T>G)
n.2592+2T>G
c.940+2T>G
n.277+2T>G
c.4424+2T>G (n.4424+2T>G)
c.1862+2T>G
n.7146+2T>G
c.7130+2T>G (n.7130+2T>G)
c.7052+2T>G (n.7052+2T>G)
c.4436+2T>G (n.4436+2T>G)
c.7037+2T>G (n.7037+2T>G)
c.251+2T>G (n.251+2T>G)
n.7149+2T>G
5g.90692789A=CA1562859330ADGRV1c.7133+3A= (n.7133+3A=)
c.265+16580A= (n.265+16580A=)
n.2592+3A=
c.940+3A=
n.277+3A=
c.4424+3A= (n.4424+3A=)
c.1862+3A=
n.7146+3A=
c.7130+3A= (n.7130+3A=)
c.7052+3A= (n.7052+3A=)
c.4436+3A= (n.4436+3A=)
c.7037+3A= (n.7037+3A=)
c.251+3A= (n.251+3A=)
n.7149+3A=
5g.90692789A>GCA122797193ADGRV1c.7133+3A>G (n.7133+3A>G)
c.265+16580A>G (n.265+16580A>G)
n.2592+3A>G
c.940+3A>G
n.277+3A>G
c.4424+3A>G (n.4424+3A>G)
c.1862+3A>G
n.7146+3A>G
c.7130+3A>G (n.7130+3A>G)
c.7052+3A>G (n.7052+3A>G)
c.4436+3A>G (n.4436+3A>G)
c.7037+3A>G (n.7037+3A>G)
c.251+3A>G (n.251+3A>G)
n.7149+3A>G
ClinVar dbSNP gnomAD v4
5g.90692791A=CA1562859331ADGRV1c.7133+5A= (n.7133+5A=)
c.265+16582A= (n.265+16582A=)
n.2592+5A=
c.940+5A=
n.277+5A=
c.4424+5A= (n.4424+5A=)
c.1862+5A=
n.7146+5A=
c.7130+5A= (n.7130+5A=)
c.7052+5A= (n.7052+5A=)
c.4436+5A= (n.4436+5A=)
c.7037+5A= (n.7037+5A=)
c.251+5A= (n.251+5A=)
n.7149+5A=
5g.90692791A>GCA1562859332ADGRV1c.7133+5A>G (n.7133+5A>G)
c.265+16582A>G (n.265+16582A>G)
n.2592+5A>G
c.940+5A>G
n.277+5A>G
c.4424+5A>G (n.4424+5A>G)
c.1862+5A>G
n.7146+5A>G
c.7130+5A>G (n.7130+5A>G)
c.7052+5A>G (n.7052+5A>G)
c.4436+5A>G (n.4436+5A>G)
c.7037+5A>G (n.7037+5A>G)
c.251+5A>G (n.251+5A>G)
n.7149+5A>G
dbSNP gnomAD v4
5g.90692792T>ACA2674567856ADGRV1c.7133+6T>A (n.7133+6T>A)
c.265+16583T>A (n.265+16583T>A)
n.2592+6T>A
c.940+6T>A
n.277+6T>A
c.4424+6T>A (n.4424+6T>A)
c.1862+6T>A
n.7146+6T>A
c.7130+6T>A (n.7130+6T>A)
c.7052+6T>A (n.7052+6T>A)
c.4436+6T>A (n.4436+6T>A)
c.7037+6T>A (n.7037+6T>A)
c.251+6T>A (n.251+6T>A)
n.7149+6T>A
gnomAD v4
5g.90692792T>CCA815374793ADGRV1c.7133+6T>C (n.7133+6T>C)
c.265+16583T>C (n.265+16583T>C)
n.2592+6T>C
c.940+6T>C
n.277+6T>C
c.4424+6T>C (n.4424+6T>C)
c.1862+6T>C
n.7146+6T>C
c.7130+6T>C (n.7130+6T>C)
c.7052+6T>C (n.7052+6T>C)
c.4436+6T>C (n.4436+6T>C)
c.7037+6T>C (n.7037+6T>C)
c.251+6T>C (n.251+6T>C)
n.7149+6T>C
dbSNP gnomAD v4
5g.90692792T>GCA2674567857ADGRV1c.7133+6T>G (n.7133+6T>G)
c.265+16583T>G (n.265+16583T>G)
n.2592+6T>G
c.940+6T>G
n.277+6T>G
c.4424+6T>G (n.4424+6T>G)
c.1862+6T>G
n.7146+6T>G
c.7130+6T>G (n.7130+6T>G)
c.7052+6T>G (n.7052+6T>G)
c.4436+6T>G (n.4436+6T>G)
c.7037+6T>G (n.7037+6T>G)
c.251+6T>G (n.251+6T>G)
n.7149+6T>G
gnomAD v4
5g.90692792T=CA1562859333ADGRV1c.7133+6T= (n.7133+6T=)
c.265+16583T= (n.265+16583T=)
n.2592+6T=
c.940+6T=
n.277+6T=
c.4424+6T= (n.4424+6T=)
c.1862+6T=
n.7146+6T=
c.7130+6T= (n.7130+6T=)
c.7052+6T= (n.7052+6T=)
c.4436+6T= (n.4436+6T=)
c.7037+6T= (n.7037+6T=)
c.251+6T= (n.251+6T=)
n.7149+6T=
5g.90692792_90692793insACACCA2767420551ADGRV1c.7133+6_7133+7insACAC (n.7133+6_7133+7insACAC)
c.265+16583_265+16584insACAC (n.265+16583_265+16584insACAC)
n.2592+6_2592+7insACAC
c.940+6_940+7insACAC
n.277+6_277+7insACAC
c.4424+6_4424+7insACAC (n.4424+6_4424+7insACAC)
c.1862+6_1862+7insACAC
n.7146+6_7146+7insACAC
c.7130+6_7130+7insACAC (n.7130+6_7130+7insACAC)
c.7052+6_7052+7insACAC (n.7052+6_7052+7insACAC)
c.4436+6_4436+7insACAC (n.4436+6_4436+7insACAC)
c.7037+6_7037+7insACAC (n.7037+6_7037+7insACAC)
c.251+6_251+7insACAC (n.251+6_251+7insACAC)
n.7149+6_7149+7insACAC
5g.90692793G>ACA2674567858ADGRV1c.7133+7G>A (n.7133+7G>A)
c.265+16584G>A (n.265+16584G>A)
n.2592+7G>A
c.940+7G>A
n.277+7G>A
c.4424+7G>A (n.4424+7G>A)
c.1862+7G>A
n.7146+7G>A
c.7130+7G>A (n.7130+7G>A)
c.7052+7G>A (n.7052+7G>A)
c.4436+7G>A (n.4436+7G>A)
c.7037+7G>A (n.7037+7G>A)
c.251+7G>A (n.251+7G>A)
n.7149+7G>A
gnomAD v4
5g.90692793_90692795delCA2767420552ADGRV1c.7133+7_7133+9del (n.7133+7_7133+9del)
c.265+16584_265+16586del (n.265+16584_265+16586del)
n.2592+7_2592+9del
c.940+7_940+9del
n.277+7_277+9del
c.4424+7_4424+9del (n.4424+7_4424+9del)
c.1862+7_1862+9del
n.7146+7_7146+9del
c.7130+7_7130+9del (n.7130+7_7130+9del)
c.7052+7_7052+9del (n.7052+7_7052+9del)
c.4436+7_4436+9del (n.4436+7_4436+9del)
c.7037+7_7037+9del (n.7037+7_7037+9del)
c.251+7_251+9del (n.251+7_251+9del)
n.7149+7_7149+9del
5g.90692795_90692796delCA2580613607ADGRV1c.7133+9_7133+10del (n.7133+9_7133+10del)
c.265+16586_265+16587del (n.265+16586_265+16587del)
n.2592+9_2592+10del
c.940+9_940+10del
n.277+9_277+10del
c.4424+9_4424+10del (n.4424+9_4424+10del)
c.1862+9_1862+10del
n.7146+9_7146+10del
c.7130+9_7130+10del (n.7130+9_7130+10del)
c.7052+9_7052+10del (n.7052+9_7052+10del)
c.4436+9_4436+10del (n.4436+9_4436+10del)
c.7037+9_7037+10del (n.7037+9_7037+10del)
c.251+9_251+10del (n.251+9_251+10del)
n.7149+9_7149+10del
ClinVar dbSNP
5g.90692794A>CCA2580073734ADGRV1c.7133+8A>C (n.7133+8A>C)
c.265+16585A>C (n.265+16585A>C)
n.2592+8A>C
c.940+8A>C
n.277+8A>C
c.4424+8A>C (n.4424+8A>C)
c.1862+8A>C
n.7146+8A>C
c.7130+8A>C (n.7130+8A>C)
c.7052+8A>C (n.7052+8A>C)
c.4436+8A>C (n.4436+8A>C)
c.7037+8A>C (n.7037+8A>C)
c.251+8A>C (n.251+8A>C)
n.7149+8A>C
ClinVar

Number of alleles fetched