Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90692694T>A | CA3339955 | ADGRV1 | c.7041T>A (p.Asp2347Glu) c.265+16485T>A (n.265+16485T>A) n.2500T>A c.848T>A n.185T>A c.4332T>A (p.Asp1444Glu) c.1770T>A n.7054T>A c.7038T>A (p.Asp2346Glu) c.6960T>A (p.Asp2320Glu) c.4344T>A (p.Asp1448Glu) c.6945T>A (p.Asp2315Glu) c.159T>A (p.Asp53Glu) n.7057T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692694T>C | CA445404515 | ADGRV1 | c.7041T>C (p.Asp2347=) c.265+16485T>C (n.265+16485T>C) n.2500T>C c.848T>C n.185T>C c.4332T>C (p.Asp1444=) c.1770T>C n.7054T>C c.7038T>C (p.Asp2346=) c.6960T>C (p.Asp2320=) c.4344T>C (p.Asp1448=) c.6945T>C (p.Asp2315=) c.159T>C (p.Asp53=) n.7057T>C | |
5 | g.90692694T>G | CA360371348 | ADGRV1 | c.7041T>G (p.Asp2347Glu) c.265+16485T>G (n.265+16485T>G) n.2500T>G c.848T>G n.185T>G c.4332T>G (p.Asp1444Glu) c.1770T>G n.7054T>G c.7038T>G (p.Asp2346Glu) c.6960T>G (p.Asp2320Glu) c.4344T>G (p.Asp1448Glu) c.6945T>G (p.Asp2315Glu) c.159T>G (p.Asp53Glu) n.7057T>G | ClinVar |
5 | g.90692694T= | CA1562859284 | ADGRV1 | c.7041T= (p.Asp2347=) c.265+16485T= (n.265+16485T=) n.2500T= c.848T= n.185T= c.4332T= (p.Asp1444=) c.1770T= n.7054T= c.7038T= (p.Asp2346=) c.6960T= (p.Asp2320=) c.4344T= (p.Asp1448=) c.6945T= (p.Asp2315=) c.159T= (p.Asp53=) n.7057T= | |
5 | g.90692695C>A | CA360371357 | ADGRV1 | c.7042C>A (p.Pro2348Thr) c.265+16486C>A (n.265+16486C>A) n.2501C>A c.849C>A n.186C>A c.4333C>A (p.Pro1445Thr) c.1771C>A n.7055C>A c.7039C>A (p.Pro2347Thr) c.6961C>A (p.Pro2321Thr) c.4345C>A (p.Pro1449Thr) c.6946C>A (p.Pro2316Thr) c.160C>A (p.Pro54Thr) n.7058C>A | |
5 | g.90692695C= | CA1562859285 | ADGRV1 | c.7042C= (p.Pro2348=) c.265+16486C= (n.265+16486C=) n.2501C= c.849C= n.186C= c.4333C= (p.Pro1445=) c.1771C= n.7055C= c.7039C= (p.Pro2347=) c.6961C= (p.Pro2321=) c.4345C= (p.Pro1449=) c.6946C= (p.Pro2316=) c.160C= (p.Pro54=) n.7058C= | |
5 | g.90692695C>G | CA360371355 | ADGRV1 | c.7042C>G (p.Pro2348Ala) c.265+16486C>G (n.265+16486C>G) n.2501C>G c.849C>G n.186C>G c.4333C>G (p.Pro1445Ala) c.1771C>G n.7055C>G c.7039C>G (p.Pro2347Ala) c.6961C>G (p.Pro2321Ala) c.4345C>G (p.Pro1449Ala) c.6946C>G (p.Pro2316Ala) c.160C>G (p.Pro54Ala) n.7058C>G | |
5 | g.90692695C>T | CA360371353 | ADGRV1 | c.7042C>T (p.Pro2348Ser) c.265+16486C>T (n.265+16486C>T) n.2501C>T c.849C>T n.186C>T c.4333C>T (p.Pro1445Ser) c.1771C>T n.7055C>T c.7039C>T (p.Pro2347Ser) c.6961C>T (p.Pro2321Ser) c.4345C>T (p.Pro1449Ser) c.6946C>T (p.Pro2316Ser) c.160C>T (p.Pro54Ser) n.7058C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692695_90692696delinsTT | CA645559071 | ADGRV1 | c.7042_7043delinsTT (p.Pro2348Phe) c.265+16486_265+16487delinsTT (n.265+16486_265+16487delinsTT) n.2501_2502delinsTT c.849_850delinsTT n.186_187delinsTT c.4333_4334delinsTT (p.Pro1445Phe) c.1771_1772delinsTT n.7055_7056delinsTT c.7039_7040delinsTT (p.Pro2347Phe) c.6961_6962delinsTT (p.Pro2321Phe) c.4345_4346delinsTT (p.Pro1449Phe) c.6946_6947delinsTT (p.Pro2316Phe) c.160_161delinsTT (p.Pro54Phe) n.7058_7059delinsTT | COSMIC |
5 | g.90692696C>A | CA360371358 | ADGRV1 | c.7043C>A (p.Pro2348His) c.265+16487C>A (n.265+16487C>A) n.2502C>A c.850C>A n.187C>A c.4334C>A (p.Pro1445His) c.1772C>A n.7056C>A c.7040C>A (p.Pro2347His) c.6962C>A (p.Pro2321His) c.4346C>A (p.Pro1449His) c.6947C>A (p.Pro2316His) c.161C>A (p.Pro54His) n.7059C>A | gnomAD v4 |
5 | g.90692696C>G | CA360371362 | ADGRV1 | c.7043C>G (p.Pro2348Arg) c.265+16487C>G (n.265+16487C>G) n.2502C>G c.850C>G n.187C>G c.4334C>G (p.Pro1445Arg) c.1772C>G n.7056C>G c.7040C>G (p.Pro2347Arg) c.6962C>G (p.Pro2321Arg) c.4346C>G (p.Pro1449Arg) c.6947C>G (p.Pro2316Arg) c.161C>G (p.Pro54Arg) n.7059C>G | |
5 | g.90692696C>T | CA360371365 | ADGRV1 | c.7043C>T (p.Pro2348Leu) c.265+16487C>T (n.265+16487C>T) n.2502C>T c.850C>T n.187C>T c.4334C>T (p.Pro1445Leu) c.1772C>T n.7056C>T c.7040C>T (p.Pro2347Leu) c.6962C>T (p.Pro2321Leu) c.4346C>T (p.Pro1449Leu) c.6947C>T (p.Pro2316Leu) c.161C>T (p.Pro54Leu) n.7059C>T | gnomAD v4 |
5 | g.90692697T>A | CA445404516 | ADGRV1 | c.7044T>A (p.Pro2348=) c.265+16488T>A (n.265+16488T>A) n.2503T>A c.851T>A n.188T>A c.4335T>A (p.Pro1445=) c.1773T>A n.7057T>A c.7041T>A (p.Pro2347=) c.6963T>A (p.Pro2321=) c.4347T>A (p.Pro1449=) c.6948T>A (p.Pro2316=) c.162T>A (p.Pro54=) n.7060T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692697T>C | CA445404518 | ADGRV1 | c.7044T>C (p.Pro2348=) c.265+16488T>C (n.265+16488T>C) n.2503T>C c.851T>C n.188T>C c.4335T>C (p.Pro1445=) c.1773T>C n.7057T>C c.7041T>C (p.Pro2347=) c.6963T>C (p.Pro2321=) c.4347T>C (p.Pro1449=) c.6948T>C (p.Pro2316=) c.162T>C (p.Pro54=) n.7060T>C | |
5 | g.90692697T>G | CA445404517 | ADGRV1 | c.7044T>G (p.Pro2348=) c.265+16488T>G (n.265+16488T>G) n.2503T>G c.851T>G n.188T>G c.4335T>G (p.Pro1445=) c.1773T>G n.7057T>G c.7041T>G (p.Pro2347=) c.6963T>G (p.Pro2321=) c.4347T>G (p.Pro1449=) c.6948T>G (p.Pro2316=) c.162T>G (p.Pro54=) n.7060T>G | |
5 | g.90692697T= | CA1562859286 | ADGRV1 | c.7044T= (p.Pro2348=) c.265+16488T= (n.265+16488T=) n.2503T= c.851T= n.188T= c.4335T= (p.Pro1445=) c.1773T= n.7057T= c.7041T= (p.Pro2347=) c.6963T= (p.Pro2321=) c.4347T= (p.Pro1449=) c.6948T= (p.Pro2316=) c.162T= (p.Pro54=) n.7060T= | |
5 | g.90692698T>A | CA360371369 | ADGRV1 | c.7045T>A (p.Tyr2349Asn) c.265+16489T>A (n.265+16489T>A) n.2504T>A c.852T>A n.189T>A c.4336T>A (p.Tyr1446Asn) c.1774T>A n.7058T>A c.7042T>A (p.Tyr2348Asn) c.6964T>A (p.Tyr2322Asn) c.4348T>A (p.Tyr1450Asn) c.6949T>A (p.Tyr2317Asn) c.163T>A (p.Tyr55Asn) n.7061T>A | |
5 | g.90692698T>C | CA360371370 | ADGRV1 | c.7045T>C (p.Tyr2349His) c.265+16489T>C (n.265+16489T>C) n.2504T>C c.852T>C n.189T>C c.4336T>C (p.Tyr1446His) c.1774T>C n.7058T>C c.7042T>C (p.Tyr2348His) c.6964T>C (p.Tyr2322His) c.4348T>C (p.Tyr1450His) c.6949T>C (p.Tyr2317His) c.163T>C (p.Tyr55His) n.7061T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692698T>G | CA360371371 | ADGRV1 | c.7045T>G (p.Tyr2349Asp) c.265+16489T>G (n.265+16489T>G) n.2504T>G c.852T>G n.189T>G c.4336T>G (p.Tyr1446Asp) c.1774T>G n.7058T>G c.7042T>G (p.Tyr2348Asp) c.6964T>G (p.Tyr2322Asp) c.4348T>G (p.Tyr1450Asp) c.6949T>G (p.Tyr2317Asp) c.163T>G (p.Tyr55Asp) n.7061T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692698T= | CA1562859287 | ADGRV1 | c.7045T= (p.Tyr2349=) c.265+16489T= (n.265+16489T=) n.2504T= c.852T= n.189T= c.4336T= (p.Tyr1446=) c.1774T= n.7058T= c.7042T= (p.Tyr2348=) c.6964T= (p.Tyr2322=) c.4348T= (p.Tyr1450=) c.6949T= (p.Tyr2317=) c.163T= (p.Tyr55=) n.7061T= | |
5 | g.90692699A= | CA1562859288 | ADGRV1 | c.7046A= (p.Tyr2349=) c.265+16490A= (n.265+16490A=) n.2505A= c.853A= n.190A= c.4337A= (p.Tyr1446=) c.1775A= n.7059A= c.7043A= (p.Tyr2348=) c.6965A= (p.Tyr2322=) c.4349A= (p.Tyr1450=) c.6950A= (p.Tyr2317=) c.164A= (p.Tyr55=) n.7062A= | |
5 | g.90692699A>C | CA360371372 | ADGRV1 | c.7046A>C (p.Tyr2349Ser) c.265+16490A>C (n.265+16490A>C) n.2505A>C c.853A>C n.190A>C c.4337A>C (p.Tyr1446Ser) c.1775A>C n.7059A>C c.7043A>C (p.Tyr2348Ser) c.6965A>C (p.Tyr2322Ser) c.4349A>C (p.Tyr1450Ser) c.6950A>C (p.Tyr2317Ser) c.164A>C (p.Tyr55Ser) n.7062A>C | |
5 | g.90692699A>G | CA3339956 | ADGRV1 | c.7046A>G (p.Tyr2349Cys) c.265+16490A>G (n.265+16490A>G) n.2505A>G c.853A>G n.190A>G c.4337A>G (p.Tyr1446Cys) c.1775A>G n.7059A>G c.7043A>G (p.Tyr2348Cys) c.6965A>G (p.Tyr2322Cys) c.4349A>G (p.Tyr1450Cys) c.6950A>G (p.Tyr2317Cys) c.164A>G (p.Tyr55Cys) n.7062A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692699A>T | CA360371374 | ADGRV1 | c.7046A>T (p.Tyr2349Phe) c.265+16490A>T (n.265+16490A>T) n.2505A>T c.853A>T n.190A>T c.4337A>T (p.Tyr1446Phe) c.1775A>T n.7059A>T c.7043A>T (p.Tyr2348Phe) c.6965A>T (p.Tyr2322Phe) c.4349A>T (p.Tyr1450Phe) c.6950A>T (p.Tyr2317Phe) c.164A>T (p.Tyr55Phe) n.7062A>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692700T>A | CA360371379 | ADGRV1 | c.7047T>A (p.Tyr2349Ter) c.265+16491T>A (n.265+16491T>A) n.2506T>A c.854T>A n.191T>A c.4338T>A (p.Tyr1446Ter) c.1776T>A n.7060T>A c.7044T>A (p.Tyr2348Ter) c.6966T>A (p.Tyr2322Ter) c.4350T>A (p.Tyr1450Ter) c.6951T>A (p.Tyr2317Ter) c.165T>A (p.Tyr55Ter) n.7063T>A | |
5 | g.90692700T>C | CA122797188 | ADGRV1 | c.7047T>C (p.Tyr2349=) c.265+16491T>C (n.265+16491T>C) n.2506T>C c.854T>C n.191T>C c.4338T>C (p.Tyr1446=) c.1776T>C n.7060T>C c.7044T>C (p.Tyr2348=) c.6966T>C (p.Tyr2322=) c.4350T>C (p.Tyr1450=) c.6951T>C (p.Tyr2317=) c.165T>C (p.Tyr55=) n.7063T>C | ClinVar dbSNP |
5 | g.90692700T>G | CA360371383 | ADGRV1 | c.7047T>G (p.Tyr2349Ter) c.265+16491T>G (n.265+16491T>G) n.2506T>G c.854T>G n.191T>G c.4338T>G (p.Tyr1446Ter) c.1776T>G n.7060T>G c.7044T>G (p.Tyr2348Ter) c.6966T>G (p.Tyr2322Ter) c.4350T>G (p.Tyr1450Ter) c.6951T>G (p.Tyr2317Ter) c.165T>G (p.Tyr55Ter) n.7063T>G | |
5 | g.90692700T= | CA1562859289 | ADGRV1 | c.7047T= (p.Tyr2349=) c.265+16491T= (n.265+16491T=) n.2506T= c.854T= n.191T= c.4338T= (p.Tyr1446=) c.1776T= n.7060T= c.7044T= (p.Tyr2348=) c.6966T= (p.Tyr2322=) c.4350T= (p.Tyr1450=) c.6951T= (p.Tyr2317=) c.165T= (p.Tyr55=) n.7063T= | |
5 | g.90692701G>A | CA360371389 | ADGRV1 | c.7048G>A (p.Gly2350Ser) c.265+16492G>A (n.265+16492G>A) n.2507G>A c.855G>A n.192G>A c.4339G>A (p.Gly1447Ser) c.1777G>A n.7061G>A c.7045G>A (p.Gly2349Ser) c.6967G>A (p.Gly2323Ser) c.4351G>A (p.Gly1451Ser) c.6952G>A (p.Gly2318Ser) c.166G>A (p.Gly56Ser) n.7064G>A | |
5 | g.90692701G>C | CA360371392 | ADGRV1 | c.7048G>C (p.Gly2350Arg) c.265+16492G>C (n.265+16492G>C) n.2507G>C c.855G>C n.192G>C c.4339G>C (p.Gly1447Arg) c.1777G>C n.7061G>C c.7045G>C (p.Gly2349Arg) c.6967G>C (p.Gly2323Arg) c.4351G>C (p.Gly1451Arg) c.6952G>C (p.Gly2318Arg) c.166G>C (p.Gly56Arg) n.7064G>C | |
5 | g.90692701G= | CA1562859290 | ADGRV1 | c.7048G= (p.Gly2350=) c.265+16492G= (n.265+16492G=) n.2507G= c.855G= n.192G= c.4339G= (p.Gly1447=) c.1777G= n.7061G= c.7045G= (p.Gly2349=) c.6967G= (p.Gly2323=) c.4351G= (p.Gly1451=) c.6952G= (p.Gly2318=) c.166G= (p.Gly56=) n.7064G= | |
5 | g.90692701G>T | CA360371399 | ADGRV1 | c.7048G>T (p.Gly2350Cys) c.265+16492G>T (n.265+16492G>T) n.2507G>T c.855G>T n.192G>T c.4339G>T (p.Gly1447Cys) c.1777G>T n.7061G>T c.7045G>T (p.Gly2349Cys) c.6967G>T (p.Gly2323Cys) c.4351G>T (p.Gly1451Cys) c.6952G>T (p.Gly2318Cys) c.166G>T (p.Gly56Cys) n.7064G>T | dbSNP gnomAD v4 |
5 | g.90692702G>A | CA360371409 | ADGRV1 | c.7049G>A (p.Gly2350Asp) c.265+16493G>A (n.265+16493G>A) n.2508G>A c.856G>A n.193G>A c.4340G>A (p.Gly1447Asp) c.1778G>A n.7062G>A c.7046G>A (p.Gly2349Asp) c.6968G>A (p.Gly2323Asp) c.4352G>A (p.Gly1451Asp) c.6953G>A (p.Gly2318Asp) c.167G>A (p.Gly56Asp) n.7065G>A | ClinVar |
5 | g.90692702G>C | CA360371413 | ADGRV1 | c.7049G>C (p.Gly2350Ala) c.265+16493G>C (n.265+16493G>C) n.2508G>C c.856G>C n.193G>C c.4340G>C (p.Gly1447Ala) c.1778G>C n.7062G>C c.7046G>C (p.Gly2349Ala) c.6968G>C (p.Gly2323Ala) c.4352G>C (p.Gly1451Ala) c.6953G>C (p.Gly2318Ala) c.167G>C (p.Gly56Ala) n.7065G>C | |
5 | g.90692702G= | CA1562859291 | ADGRV1 | c.7049G= (p.Gly2350=) c.265+16493G= (n.265+16493G=) n.2508G= c.856G= n.193G= c.4340G= (p.Gly1447=) c.1778G= n.7062G= c.7046G= (p.Gly2349=) c.6968G= (p.Gly2323=) c.4352G= (p.Gly1451=) c.6953G= (p.Gly2318=) c.167G= (p.Gly56=) n.7065G= | |
5 | g.90692702G>T | CA360371421 | ADGRV1 | c.7049G>T (p.Gly2350Val) c.265+16493G>T (n.265+16493G>T) n.2508G>T c.856G>T n.193G>T c.4340G>T (p.Gly1447Val) c.1778G>T n.7062G>T c.7046G>T (p.Gly2349Val) c.6968G>T (p.Gly2323Val) c.4352G>T (p.Gly1451Val) c.6953G>T (p.Gly2318Val) c.167G>T (p.Gly56Val) n.7065G>T | dbSNP gnomAD v2 |
5 | g.90692703T>A | CA445404519 | ADGRV1 | c.7050T>A (p.Gly2350=) c.265+16494T>A (n.265+16494T>A) n.2509T>A c.857T>A n.194T>A c.4341T>A (p.Gly1447=) c.1779T>A n.7063T>A c.7047T>A (p.Gly2349=) c.6969T>A (p.Gly2323=) c.4353T>A (p.Gly1451=) c.6954T>A (p.Gly2318=) c.168T>A (p.Gly56=) n.7066T>A | |
5 | g.90692703T>C | CA445404521 | ADGRV1 | c.7050T>C (p.Gly2350=) c.265+16494T>C (n.265+16494T>C) n.2509T>C c.857T>C n.194T>C c.4341T>C (p.Gly1447=) c.1779T>C n.7063T>C c.7047T>C (p.Gly2349=) c.6969T>C (p.Gly2323=) c.4353T>C (p.Gly1451=) c.6954T>C (p.Gly2318=) c.168T>C (p.Gly56=) n.7066T>C | |
5 | g.90692703T>G | CA445404520 | ADGRV1 | c.7050T>G (p.Gly2350=) c.265+16494T>G (n.265+16494T>G) n.2509T>G c.857T>G n.194T>G c.4341T>G (p.Gly1447=) c.1779T>G n.7063T>G c.7047T>G (p.Gly2349=) c.6969T>G (p.Gly2323=) c.4353T>G (p.Gly1451=) c.6954T>G (p.Gly2318=) c.168T>G (p.Gly56=) n.7066T>G | |
5 | g.90692704A= | CA1562859292 | ADGRV1 | c.7051A= (p.Thr2351=) c.265+16495A= (n.265+16495A=) n.2510A= c.858A= n.195A= c.4342A= (p.Thr1448=) c.1780A= n.7064A= c.7048A= (p.Thr2350=) c.6970A= (p.Thr2324=) c.4354A= (p.Thr1452=) c.6955A= (p.Thr2319=) c.169A= (p.Thr57=) n.7067A= | |
5 | g.90692704A>C | CA360371424 | ADGRV1 | c.7051A>C (p.Thr2351Pro) c.265+16495A>C (n.265+16495A>C) n.2510A>C c.858A>C n.195A>C c.4342A>C (p.Thr1448Pro) c.1780A>C n.7064A>C c.7048A>C (p.Thr2350Pro) c.6970A>C (p.Thr2324Pro) c.4354A>C (p.Thr1452Pro) c.6955A>C (p.Thr2319Pro) c.169A>C (p.Thr57Pro) n.7067A>C | gnomAD v4 |
5 | g.90692704A>G | CA360371426 | ADGRV1 | c.7051A>G (p.Thr2351Ala) c.265+16495A>G (n.265+16495A>G) n.2510A>G c.858A>G n.195A>G c.4342A>G (p.Thr1448Ala) c.1780A>G n.7064A>G c.7048A>G (p.Thr2350Ala) c.6970A>G (p.Thr2324Ala) c.4354A>G (p.Thr1452Ala) c.6955A>G (p.Thr2319Ala) c.169A>G (p.Thr57Ala) n.7067A>G | |
5 | g.90692704A>T | CA3339957 | ADGRV1 | c.7051A>T (p.Thr2351Ser) c.265+16495A>T (n.265+16495A>T) n.2510A>T c.858A>T n.195A>T c.4342A>T (p.Thr1448Ser) c.1780A>T n.7064A>T c.7048A>T (p.Thr2350Ser) c.6970A>T (p.Thr2324Ser) c.4354A>T (p.Thr1452Ser) c.6955A>T (p.Thr2319Ser) c.169A>T (p.Thr57Ser) n.7067A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692705C>A | CA360371440 | ADGRV1 | c.7052C>A (p.Thr2351Lys) c.265+16496C>A (n.265+16496C>A) n.2511C>A c.859C>A n.196C>A c.4343C>A (p.Thr1448Lys) c.1781C>A n.7065C>A c.7049C>A (p.Thr2350Lys) c.6971C>A (p.Thr2324Lys) c.4355C>A (p.Thr1452Lys) c.6956C>A (p.Thr2319Lys) c.170C>A (p.Thr57Lys) n.7068C>A | |
5 | g.90692705C= | CA1562859293 | ADGRV1 | c.7052C= (p.Thr2351=) c.265+16496C= (n.265+16496C=) n.2511C= c.859C= n.196C= c.4343C= (p.Thr1448=) c.1781C= n.7065C= c.7049C= (p.Thr2350=) c.6971C= (p.Thr2324=) c.4355C= (p.Thr1452=) c.6956C= (p.Thr2319=) c.170C= (p.Thr57=) n.7068C= | |
5 | g.90692705C>G | CA360371452 | ADGRV1 | c.7052C>G (p.Thr2351Arg) c.265+16496C>G (n.265+16496C>G) n.2511C>G c.859C>G n.196C>G c.4343C>G (p.Thr1448Arg) c.1781C>G n.7065C>G c.7049C>G (p.Thr2350Arg) c.6971C>G (p.Thr2324Arg) c.4355C>G (p.Thr1452Arg) c.6956C>G (p.Thr2319Arg) c.170C>G (p.Thr57Arg) n.7068C>G | |
5 | g.90692705C>T | CA360371443 | ADGRV1 | c.7052C>T (p.Thr2351Ile) c.265+16496C>T (n.265+16496C>T) n.2511C>T c.859C>T n.196C>T c.4343C>T (p.Thr1448Ile) c.1781C>T n.7065C>T c.7049C>T (p.Thr2350Ile) c.6971C>T (p.Thr2324Ile) c.4355C>T (p.Thr1452Ile) c.6956C>T (p.Thr2319Ile) c.170C>T (p.Thr57Ile) n.7068C>T | dbSNP |
5 | g.90692706A= | CA1562859294 | ADGRV1 | c.7053A= (p.Thr2351=) c.265+16497A= (n.265+16497A=) n.2512A= c.860A= n.197A= c.4344A= (p.Thr1448=) c.1782A= n.7066A= c.7050A= (p.Thr2350=) c.6972A= (p.Thr2324=) c.4356A= (p.Thr1452=) c.6957A= (p.Thr2319=) c.171A= (p.Thr57=) n.7069A= | |
5 | g.90692706A>C | CA445404522 | ADGRV1 | c.7053A>C (p.Thr2351=) c.265+16497A>C (n.265+16497A>C) n.2512A>C c.860A>C n.197A>C c.4344A>C (p.Thr1448=) c.1782A>C n.7066A>C c.7050A>C (p.Thr2350=) c.6972A>C (p.Thr2324=) c.4356A>C (p.Thr1452=) c.6957A>C (p.Thr2319=) c.171A>C (p.Thr57=) n.7069A>C | |
5 | g.90692706A>G | CA445404523 | ADGRV1 | c.7053A>G (p.Thr2351=) c.265+16497A>G (n.265+16497A>G) n.2512A>G c.860A>G n.197A>G c.4344A>G (p.Thr1448=) c.1782A>G n.7066A>G c.7050A>G (p.Thr2350=) c.6972A>G (p.Thr2324=) c.4356A>G (p.Thr1452=) c.6957A>G (p.Thr2319=) c.171A>G (p.Thr57=) n.7069A>G | gnomAD v4 |
5 | g.90692706A>T | CA3339958 | ADGRV1 | c.7053A>T (p.Thr2351=) c.265+16497A>T (n.265+16497A>T) n.2512A>T c.860A>T n.197A>T c.4344A>T (p.Thr1448=) c.1782A>T n.7066A>T c.7050A>T (p.Thr2350=) c.6972A>T (p.Thr2324=) c.4356A>T (p.Thr1452=) c.6957A>T (p.Thr2319=) c.171A>T (p.Thr57=) n.7069A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692707G>A | CA3339959 | ADGRV1 | c.7054G>A (p.Val2352Ile) c.265+16498G>A (n.265+16498G>A) n.2513G>A c.861G>A n.198G>A c.4345G>A (p.Val1449Ile) c.1783G>A n.7067G>A c.7051G>A (p.Val2351Ile) c.6973G>A (p.Val2325Ile) c.4357G>A (p.Val1453Ile) c.6958G>A (p.Val2320Ile) c.172G>A (p.Val58Ile) n.7070G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692707G>C | CA360371458 | ADGRV1 | c.7054G>C (p.Val2352Leu) c.265+16498G>C (n.265+16498G>C) n.2513G>C c.861G>C n.198G>C c.4345G>C (p.Val1449Leu) c.1783G>C n.7067G>C c.7051G>C (p.Val2351Leu) c.6973G>C (p.Val2325Leu) c.4357G>C (p.Val1453Leu) c.6958G>C (p.Val2320Leu) c.172G>C (p.Val58Leu) n.7070G>C | |
5 | g.90692707G= | CA1562859295 | ADGRV1 | c.7054G= (p.Val2352=) c.265+16498G= (n.265+16498G=) n.2513G= c.861G= n.198G= c.4345G= (p.Val1449=) c.1783G= n.7067G= c.7051G= (p.Val2351=) c.6973G= (p.Val2325=) c.4357G= (p.Val1453=) c.6958G= (p.Val2320=) c.172G= (p.Val58=) n.7070G= | |
5 | g.90692707G>T | CA360371460 | ADGRV1 | c.7054G>T (p.Val2352Leu) c.265+16498G>T (n.265+16498G>T) n.2513G>T c.861G>T n.198G>T c.4345G>T (p.Val1449Leu) c.1783G>T n.7067G>T c.7051G>T (p.Val2351Leu) c.6973G>T (p.Val2325Leu) c.4357G>T (p.Val1453Leu) c.6958G>T (p.Val2320Leu) c.172G>T (p.Val58Leu) n.7070G>T | |
5 | g.90692708T>A | CA360371465 | ADGRV1 | c.7055T>A (p.Val2352Glu) c.265+16499T>A (n.265+16499T>A) n.2514T>A c.862T>A n.199T>A c.4346T>A (p.Val1449Glu) c.1784T>A n.7068T>A c.7052T>A (p.Val2351Glu) c.6974T>A (p.Val2325Glu) c.4358T>A (p.Val1453Glu) c.6959T>A (p.Val2320Glu) c.173T>A (p.Val58Glu) n.7071T>A | |
5 | g.90692708T>C | CA360371467 | ADGRV1 | c.7055T>C (p.Val2352Ala) c.265+16499T>C (n.265+16499T>C) n.2514T>C c.862T>C n.199T>C c.4346T>C (p.Val1449Ala) c.1784T>C n.7068T>C c.7052T>C (p.Val2351Ala) c.6974T>C (p.Val2325Ala) c.4358T>C (p.Val1453Ala) c.6959T>C (p.Val2320Ala) c.173T>C (p.Val58Ala) n.7071T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692708T>G | CA360371470 | ADGRV1 | c.7055T>G (p.Val2352Gly) c.265+16499T>G (n.265+16499T>G) n.2514T>G c.862T>G n.199T>G c.4346T>G (p.Val1449Gly) c.1784T>G n.7068T>G c.7052T>G (p.Val2351Gly) c.6974T>G (p.Val2325Gly) c.4358T>G (p.Val1453Gly) c.6959T>G (p.Val2320Gly) c.173T>G (p.Val58Gly) n.7071T>G | |
5 | g.90692708T= | CA1562859296 | ADGRV1 | c.7055T= (p.Val2352=) c.265+16499T= (n.265+16499T=) n.2514T= c.862T= n.199T= c.4346T= (p.Val1449=) c.1784T= n.7068T= c.7052T= (p.Val2351=) c.6974T= (p.Val2325=) c.4358T= (p.Val1453=) c.6959T= (p.Val2320=) c.173T= (p.Val58=) n.7071T= | |
5 | g.90692709A>C | CA445404524 | ADGRV1 | c.7056A>C (p.Val2352=) c.265+16500A>C (n.265+16500A>C) n.2515A>C c.863A>C n.200A>C c.4347A>C (p.Val1449=) c.1785A>C n.7069A>C c.7053A>C (p.Val2351=) c.6975A>C (p.Val2325=) c.4359A>C (p.Val1453=) c.6960A>C (p.Val2320=) c.174A>C (p.Val58=) n.7072A>C | |
5 | g.90692709A>G | CA445404525 | ADGRV1 | c.7056A>G (p.Val2352=) c.265+16500A>G (n.265+16500A>G) n.2515A>G c.863A>G n.200A>G c.4347A>G (p.Val1449=) c.1785A>G n.7069A>G c.7053A>G (p.Val2351=) c.6975A>G (p.Val2325=) c.4359A>G (p.Val1453=) c.6960A>G (p.Val2320=) c.174A>G (p.Val58=) n.7072A>G | |
5 | g.90692709A>T | CA445404526 | ADGRV1 | c.7056A>T (p.Val2352=) c.265+16500A>T (n.265+16500A>T) n.2515A>T c.863A>T n.200A>T c.4347A>T (p.Val1449=) c.1785A>T n.7069A>T c.7053A>T (p.Val2351=) c.6975A>T (p.Val2325=) c.4359A>T (p.Val1453=) c.6960A>T (p.Val2320=) c.174A>T (p.Val58=) n.7072A>T | |
5 | g.90692710G>A | CA360371476 | ADGRV1 | c.7057G>A (p.Ala2353Thr) c.265+16501G>A (n.265+16501G>A) n.2516G>A c.864G>A n.201G>A c.4348G>A (p.Ala1450Thr) c.1786G>A n.7070G>A c.7054G>A (p.Ala2352Thr) c.6976G>A (p.Ala2326Thr) c.4360G>A (p.Ala1454Thr) c.6961G>A (p.Ala2321Thr) c.175G>A (p.Ala59Thr) n.7073G>A | |
5 | g.90692710G>C | CA360371478 | ADGRV1 | c.7057G>C (p.Ala2353Pro) c.265+16501G>C (n.265+16501G>C) n.2516G>C c.864G>C n.201G>C c.4348G>C (p.Ala1450Pro) c.1786G>C n.7070G>C c.7054G>C (p.Ala2352Pro) c.6976G>C (p.Ala2326Pro) c.4360G>C (p.Ala1454Pro) c.6961G>C (p.Ala2321Pro) c.175G>C (p.Ala59Pro) n.7073G>C | |
5 | g.90692710G>T | CA360371479 | ADGRV1 | c.7057G>T (p.Ala2353Ser) c.265+16501G>T (n.265+16501G>T) n.2516G>T c.864G>T n.201G>T c.4348G>T (p.Ala1450Ser) c.1786G>T n.7070G>T c.7054G>T (p.Ala2352Ser) c.6976G>T (p.Ala2326Ser) c.4360G>T (p.Ala1454Ser) c.6961G>T (p.Ala2321Ser) c.175G>T (p.Ala59Ser) n.7073G>T | |
5 | g.90692711C>A | CA360371481 | ADGRV1 | c.7058C>A (p.Ala2353Asp) c.265+16502C>A (n.265+16502C>A) n.2517C>A c.865C>A n.202C>A c.4349C>A (p.Ala1450Asp) c.1787C>A n.7071C>A c.7055C>A (p.Ala2352Asp) c.6977C>A (p.Ala2326Asp) c.4361C>A (p.Ala1454Asp) c.6962C>A (p.Ala2321Asp) c.176C>A (p.Ala59Asp) n.7074C>A | |
5 | g.90692711C>G | CA360371483 | ADGRV1 | c.7058C>G (p.Ala2353Gly) c.265+16502C>G (n.265+16502C>G) n.2517C>G c.865C>G n.202C>G c.4349C>G (p.Ala1450Gly) c.1787C>G n.7071C>G c.7055C>G (p.Ala2352Gly) c.6977C>G (p.Ala2326Gly) c.4361C>G (p.Ala1454Gly) c.6962C>G (p.Ala2321Gly) c.176C>G (p.Ala59Gly) n.7074C>G | |
5 | g.90692711C>T | CA360371489 | ADGRV1 | c.7058C>T (p.Ala2353Val) c.265+16502C>T (n.265+16502C>T) n.2517C>T c.865C>T n.202C>T c.4349C>T (p.Ala1450Val) c.1787C>T n.7071C>T c.7055C>T (p.Ala2352Val) c.6977C>T (p.Ala2326Val) c.4361C>T (p.Ala1454Val) c.6962C>T (p.Ala2321Val) c.176C>T (p.Ala59Val) n.7074C>T | |
5 | g.90692712C>A | CA445404529 | ADGRV1 | c.7059C>A (p.Ala2353=) c.265+16503C>A (n.265+16503C>A) n.2518C>A c.866C>A n.203C>A c.4350C>A (p.Ala1450=) c.1788C>A n.7072C>A c.7056C>A (p.Ala2352=) c.6978C>A (p.Ala2326=) c.4362C>A (p.Ala1454=) c.6963C>A (p.Ala2321=) c.177C>A (p.Ala59=) n.7075C>A | gnomAD v4 |
5 | g.90692712C>G | CA445404527 | ADGRV1 | c.7059C>G (p.Ala2353=) c.265+16503C>G (n.265+16503C>G) n.2518C>G c.866C>G n.203C>G c.4350C>G (p.Ala1450=) c.1788C>G n.7072C>G c.7056C>G (p.Ala2352=) c.6978C>G (p.Ala2326=) c.4362C>G (p.Ala1454=) c.6963C>G (p.Ala2321=) c.177C>G (p.Ala59=) n.7075C>G | |
5 | g.90692712C>T | CA445404528 | ADGRV1 | c.7059C>T (p.Ala2353=) c.265+16503C>T (n.265+16503C>T) n.2518C>T c.866C>T n.203C>T c.4350C>T (p.Ala1450=) c.1788C>T n.7072C>T c.7056C>T (p.Ala2352=) c.6978C>T (p.Ala2326=) c.4362C>T (p.Ala1454=) c.6963C>T (p.Ala2321=) c.177C>T (p.Ala59=) n.7075C>T | |
5 | g.90692713T>A | CA360371497 | ADGRV1 | c.7060T>A (p.Phe2354Ile) c.265+16504T>A (n.265+16504T>A) n.2519T>A c.867T>A n.204T>A c.4351T>A (p.Phe1451Ile) c.1789T>A n.7073T>A c.7057T>A (p.Phe2353Ile) c.6979T>A (p.Phe2327Ile) c.4363T>A (p.Phe1455Ile) c.6964T>A (p.Phe2322Ile) c.178T>A (p.Phe60Ile) n.7076T>A | |
5 | g.90692713T>C | CA360371496 | ADGRV1 | c.7060T>C (p.Phe2354Leu) c.265+16504T>C (n.265+16504T>C) n.2519T>C c.867T>C n.204T>C c.4351T>C (p.Phe1451Leu) c.1789T>C n.7073T>C c.7057T>C (p.Phe2353Leu) c.6979T>C (p.Phe2327Leu) c.4363T>C (p.Phe1455Leu) c.6964T>C (p.Phe2322Leu) c.178T>C (p.Phe60Leu) n.7076T>C | |
5 | g.90692713T>G | CA360371495 | ADGRV1 | c.7060T>G (p.Phe2354Val) c.265+16504T>G (n.265+16504T>G) n.2519T>G c.867T>G n.204T>G c.4351T>G (p.Phe1451Val) c.1789T>G n.7073T>G c.7057T>G (p.Phe2353Val) c.6979T>G (p.Phe2327Val) c.4363T>G (p.Phe1455Val) c.6964T>G (p.Phe2322Val) c.178T>G (p.Phe60Val) n.7076T>G | |
5 | g.90692714T>A | CA360371500 | ADGRV1 | c.7061T>A (p.Phe2354Tyr) c.265+16505T>A (n.265+16505T>A) n.2520T>A c.868T>A n.205T>A c.4352T>A (p.Phe1451Tyr) c.1790T>A n.7074T>A c.7058T>A (p.Phe2353Tyr) c.6980T>A (p.Phe2327Tyr) c.4364T>A (p.Phe1455Tyr) c.6965T>A (p.Phe2322Tyr) c.179T>A (p.Phe60Tyr) n.7077T>A | |
5 | g.90692714T>C | CA360371501 | ADGRV1 | c.7061T>C (p.Phe2354Ser) c.265+16505T>C (n.265+16505T>C) n.2520T>C c.868T>C n.205T>C c.4352T>C (p.Phe1451Ser) c.1790T>C n.7074T>C c.7058T>C (p.Phe2353Ser) c.6980T>C (p.Phe2327Ser) c.4364T>C (p.Phe1455Ser) c.6965T>C (p.Phe2322Ser) c.179T>C (p.Phe60Ser) n.7077T>C | |
5 | g.90692714T>G | CA360371502 | ADGRV1 | c.7061T>G (p.Phe2354Cys) c.265+16505T>G (n.265+16505T>G) n.2520T>G c.868T>G n.205T>G c.4352T>G (p.Phe1451Cys) c.1790T>G n.7074T>G c.7058T>G (p.Phe2353Cys) c.6980T>G (p.Phe2327Cys) c.4364T>G (p.Phe1455Cys) c.6965T>G (p.Phe2322Cys) c.179T>G (p.Phe60Cys) n.7077T>G | |
5 | g.90692715T>A | CA360371503 | ADGRV1 | c.7062T>A (p.Phe2354Leu) c.265+16506T>A (n.265+16506T>A) n.2521T>A c.869T>A n.206T>A c.4353T>A (p.Phe1451Leu) c.1791T>A n.7075T>A c.7059T>A (p.Phe2353Leu) c.6981T>A (p.Phe2327Leu) c.4365T>A (p.Phe1455Leu) c.6966T>A (p.Phe2322Leu) c.180T>A (p.Phe60Leu) n.7078T>A | |
5 | g.90692715T>C | CA445404533 | ADGRV1 | c.7062T>C (p.Phe2354=) c.265+16506T>C (n.265+16506T>C) n.2521T>C c.869T>C n.206T>C c.4353T>C (p.Phe1451=) c.1791T>C n.7075T>C c.7059T>C (p.Phe2353=) c.6981T>C (p.Phe2327=) c.4365T>C (p.Phe1455=) c.6966T>C (p.Phe2322=) c.180T>C (p.Phe60=) n.7078T>C | |
5 | g.90692715T>G | CA360371511 | ADGRV1 | c.7062T>G (p.Phe2354Leu) c.265+16506T>G (n.265+16506T>G) n.2521T>G c.869T>G n.206T>G c.4353T>G (p.Phe1451Leu) c.1791T>G n.7075T>G c.7059T>G (p.Phe2353Leu) c.6981T>G (p.Phe2327Leu) c.4365T>G (p.Phe1455Leu) c.6966T>G (p.Phe2322Leu) c.180T>G (p.Phe60Leu) n.7078T>G | |
5 | g.90692716G>A | CA360371519 | ADGRV1 | c.7063G>A (p.Ala2355Thr) c.265+16507G>A (n.265+16507G>A) n.2522G>A c.870G>A n.207G>A c.4354G>A (p.Ala1452Thr) c.1792G>A n.7076G>A c.7060G>A (p.Ala2354Thr) c.6982G>A (p.Ala2328Thr) c.4366G>A (p.Ala1456Thr) c.6967G>A (p.Ala2323Thr) c.181G>A (p.Ala61Thr) n.7079G>A | |
5 | g.90692716G>C | CA360371522 | ADGRV1 | c.7063G>C (p.Ala2355Pro) c.265+16507G>C (n.265+16507G>C) n.2522G>C c.870G>C n.207G>C c.4354G>C (p.Ala1452Pro) c.1792G>C n.7076G>C c.7060G>C (p.Ala2354Pro) c.6982G>C (p.Ala2328Pro) c.4366G>C (p.Ala1456Pro) c.6967G>C (p.Ala2323Pro) c.181G>C (p.Ala61Pro) n.7079G>C | |
5 | g.90692716G>T | CA360371525 | ADGRV1 | c.7063G>T (p.Ala2355Ser) c.265+16507G>T (n.265+16507G>T) n.2522G>T c.870G>T n.207G>T c.4354G>T (p.Ala1452Ser) c.1792G>T n.7076G>T c.7060G>T (p.Ala2354Ser) c.6982G>T (p.Ala2328Ser) c.4366G>T (p.Ala1456Ser) c.6967G>T (p.Ala2323Ser) c.181G>T (p.Ala61Ser) n.7079G>T | |
5 | g.90692717C>A | CA360371531 | ADGRV1 | c.7064C>A (p.Ala2355Asp) c.265+16508C>A (n.265+16508C>A) n.2523C>A c.871C>A n.208C>A c.4355C>A (p.Ala1452Asp) c.1793C>A n.7077C>A c.7061C>A (p.Ala2354Asp) c.6983C>A (p.Ala2328Asp) c.4367C>A (p.Ala1456Asp) c.6968C>A (p.Ala2323Asp) c.182C>A (p.Ala61Asp) n.7080C>A | dbSNP gnomAD v4 |
5 | g.90692717C= | CA1562859297 | ADGRV1 | c.7064C= (p.Ala2355=) c.265+16508C= (n.265+16508C=) n.2523C= c.871C= n.208C= c.4355C= (p.Ala1452=) c.1793C= n.7077C= c.7061C= (p.Ala2354=) c.6983C= (p.Ala2328=) c.4367C= (p.Ala1456=) c.6968C= (p.Ala2323=) c.182C= (p.Ala61=) n.7080C= | |
5 | g.90692717C>G | CA360371534 | ADGRV1 | c.7064C>G (p.Ala2355Gly) c.265+16508C>G (n.265+16508C>G) n.2523C>G c.871C>G n.208C>G c.4355C>G (p.Ala1452Gly) c.1793C>G n.7077C>G c.7061C>G (p.Ala2354Gly) c.6983C>G (p.Ala2328Gly) c.4367C>G (p.Ala1456Gly) c.6968C>G (p.Ala2323Gly) c.182C>G (p.Ala61Gly) n.7080C>G | |
5 | g.90692717C>T | CA122797189 | ADGRV1 | c.7064C>T (p.Ala2355Val) c.265+16508C>T (n.265+16508C>T) n.2523C>T c.871C>T n.208C>T c.4355C>T (p.Ala1452Val) c.1793C>T n.7077C>T c.7061C>T (p.Ala2354Val) c.6983C>T (p.Ala2328Val) c.4367C>T (p.Ala1456Val) c.6968C>T (p.Ala2323Val) c.182C>T (p.Ala61Val) n.7080C>T | dbSNP |
5 | g.90692718T>A | CA445404534 | ADGRV1 | c.7065T>A (p.Ala2355=) c.265+16509T>A (n.265+16509T>A) n.2524T>A c.872T>A n.209T>A c.4356T>A (p.Ala1452=) c.1794T>A n.7078T>A c.7062T>A (p.Ala2354=) c.6984T>A (p.Ala2328=) c.4368T>A (p.Ala1456=) c.6969T>A (p.Ala2323=) c.183T>A (p.Ala61=) n.7081T>A | |
5 | g.90692718T>C | CA3339960 | ADGRV1 | c.7065T>C (p.Ala2355=) c.265+16509T>C (n.265+16509T>C) n.2524T>C c.872T>C n.209T>C c.4356T>C (p.Ala1452=) c.1794T>C n.7078T>C c.7062T>C (p.Ala2354=) c.6984T>C (p.Ala2328=) c.4368T>C (p.Ala1456=) c.6969T>C (p.Ala2323=) c.183T>C (p.Ala61=) n.7081T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692718T>G | CA445404535 | ADGRV1 | c.7065T>G (p.Ala2355=) c.265+16509T>G (n.265+16509T>G) n.2524T>G c.872T>G n.209T>G c.4356T>G (p.Ala1452=) c.1794T>G n.7078T>G c.7062T>G (p.Ala2354=) c.6984T>G (p.Ala2328=) c.4368T>G (p.Ala1456=) c.6969T>G (p.Ala2323=) c.183T>G (p.Ala61=) n.7081T>G | |
5 | g.90692718T= | CA1562859298 | ADGRV1 | c.7065T= (p.Ala2355=) c.265+16509T= (n.265+16509T=) n.2524T= c.872T= n.209T= c.4356T= (p.Ala1452=) c.1794T= n.7078T= c.7062T= (p.Ala2354=) c.6984T= (p.Ala2328=) c.4368T= (p.Ala1456=) c.6969T= (p.Ala2323=) c.183T= (p.Ala61=) n.7081T= | |
5 | g.90692719del | CA2697546299 | ADGRV1 | c.7066del (p.Gln2356ArgfsTer18) c.265+16510del (n.265+16510del) n.2525del c.873del n.210del c.4357del (p.Gln1453ArgfsTer18) c.1795del n.7079del c.7063del (p.Gln2355ArgfsTer18) c.6985del (p.Gln2329ArgfsTer18) c.4369del (p.Gln1457ArgfsTer18) c.6970del (p.Gln2324ArgfsTer18) c.184del (p.Gln62ArgfsTer18) n.7082del | ClinVar |
5 | g.90692719C>A | CA360371548 | ADGRV1 | c.7066C>A (p.Gln2356Lys) c.265+16510C>A (n.265+16510C>A) n.2525C>A c.873C>A n.210C>A c.4357C>A (p.Gln1453Lys) c.1795C>A n.7079C>A c.7063C>A (p.Gln2355Lys) c.6985C>A (p.Gln2329Lys) c.4369C>A (p.Gln1457Lys) c.6970C>A (p.Gln2324Lys) c.184C>A (p.Gln62Lys) n.7082C>A | |
5 | g.90692719C= | CA1562859299 | ADGRV1 | c.7066C= (p.Gln2356=) c.265+16510C= (n.265+16510C=) n.2525C= c.873C= n.210C= c.4357C= (p.Gln1453=) c.1795C= n.7079C= c.7063C= (p.Gln2355=) c.6985C= (p.Gln2329=) c.4369C= (p.Gln1457=) c.6970C= (p.Gln2324=) c.184C= (p.Gln62=) n.7082C= | |
5 | g.90692719C>G | CA360371550 | ADGRV1 | c.7066C>G (p.Gln2356Glu) c.265+16510C>G (n.265+16510C>G) n.2525C>G c.873C>G n.210C>G c.4357C>G (p.Gln1453Glu) c.1795C>G n.7079C>G c.7063C>G (p.Gln2355Glu) c.6985C>G (p.Gln2329Glu) c.4369C>G (p.Gln1457Glu) c.6970C>G (p.Gln2324Glu) c.184C>G (p.Gln62Glu) n.7082C>G | |
5 | g.90692719C>T | CA360371547 | ADGRV1 | c.7066C>T (p.Gln2356Ter) c.265+16510C>T (n.265+16510C>T) n.2525C>T c.873C>T n.210C>T c.4357C>T (p.Gln1453Ter) c.1795C>T n.7079C>T c.7063C>T (p.Gln2355Ter) c.6985C>T (p.Gln2329Ter) c.4369C>T (p.Gln1457Ter) c.6970C>T (p.Gln2324Ter) c.184C>T (p.Gln62Ter) n.7082C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692720A>C | CA360371553 | ADGRV1 | c.7067A>C (p.Gln2356Pro) c.265+16511A>C (n.265+16511A>C) n.2526A>C c.874A>C n.211A>C c.4358A>C (p.Gln1453Pro) c.1796A>C n.7080A>C c.7064A>C (p.Gln2355Pro) c.6986A>C (p.Gln2329Pro) c.4370A>C (p.Gln1457Pro) c.6971A>C (p.Gln2324Pro) c.185A>C (p.Gln62Pro) n.7083A>C | |
5 | g.90692720A>G | CA360371561 | ADGRV1 | c.7067A>G (p.Gln2356Arg) c.265+16511A>G (n.265+16511A>G) n.2526A>G c.874A>G n.211A>G c.4358A>G (p.Gln1453Arg) c.1796A>G n.7080A>G c.7064A>G (p.Gln2355Arg) c.6986A>G (p.Gln2329Arg) c.4370A>G (p.Gln1457Arg) c.6971A>G (p.Gln2324Arg) c.185A>G (p.Gln62Arg) n.7083A>G | |
5 | g.90692720A>T | CA360371566 | ADGRV1 | c.7067A>T (p.Gln2356Leu) c.265+16511A>T (n.265+16511A>T) n.2526A>T c.874A>T n.211A>T c.4358A>T (p.Gln1453Leu) c.1796A>T n.7080A>T c.7064A>T (p.Gln2355Leu) c.6986A>T (p.Gln2329Leu) c.4370A>T (p.Gln1457Leu) c.6971A>T (p.Gln2324Leu) c.185A>T (p.Gln62Leu) n.7083A>T | |
5 | g.90692721G>A | CA445404538 | ADGRV1 | c.7068G>A (p.Gln2356=) c.265+16512G>A (n.265+16512G>A) n.2527G>A c.875G>A n.212G>A c.4359G>A (p.Gln1453=) c.1797G>A n.7081G>A c.7065G>A (p.Gln2355=) c.6987G>A (p.Gln2329=) c.4371G>A (p.Gln1457=) c.6972G>A (p.Gln2324=) c.186G>A (p.Gln62=) n.7084G>A | dbSNP gnomAD v4 |
5 | g.90692721G>C | CA360371571 | ADGRV1 | c.7068G>C (p.Gln2356His) c.265+16512G>C (n.265+16512G>C) n.2527G>C c.875G>C n.212G>C c.4359G>C (p.Gln1453His) c.1797G>C n.7081G>C c.7065G>C (p.Gln2355His) c.6987G>C (p.Gln2329His) c.4371G>C (p.Gln1457His) c.6972G>C (p.Gln2324His) c.186G>C (p.Gln62His) n.7084G>C | |
5 | g.90692721G= | CA1562859300 | ADGRV1 | c.7068G= (p.Gln2356=) c.265+16512G= (n.265+16512G=) n.2527G= c.875G= n.212G= c.4359G= (p.Gln1453=) c.1797G= n.7081G= c.7065G= (p.Gln2355=) c.6987G= (p.Gln2329=) c.4371G= (p.Gln1457=) c.6972G= (p.Gln2324=) c.186G= (p.Gln62=) n.7084G= | |
5 | g.90692721G>T | CA360371573 | ADGRV1 | c.7068G>T (p.Gln2356His) c.265+16512G>T (n.265+16512G>T) n.2527G>T c.875G>T n.212G>T c.4359G>T (p.Gln1453His) c.1797G>T n.7081G>T c.7065G>T (p.Gln2355His) c.6987G>T (p.Gln2329His) c.4371G>T (p.Gln1457His) c.6972G>T (p.Gln2324His) c.186G>T (p.Gln62His) n.7084G>T | |
5 | g.90692722A= | CA1562859301 | ADGRV1 | c.7069A= (p.Met2357=) c.265+16513A= (n.265+16513A=) n.2528A= c.876A= n.213A= c.4360A= (p.Met1454=) c.1798A= n.7082A= c.7066A= (p.Met2356=) c.6988A= (p.Met2330=) c.4372A= (p.Met1458=) c.6973A= (p.Met2325=) c.187A= (p.Met63=) n.7085A= | |
5 | g.90692722A>C | CA360371576 | ADGRV1 | c.7069A>C (p.Met2357Leu) c.265+16513A>C (n.265+16513A>C) n.2528A>C c.876A>C n.213A>C c.4360A>C (p.Met1454Leu) c.1798A>C n.7082A>C c.7066A>C (p.Met2356Leu) c.6988A>C (p.Met2330Leu) c.4372A>C (p.Met1458Leu) c.6973A>C (p.Met2325Leu) c.187A>C (p.Met63Leu) n.7085A>C | |
5 | g.90692722A>G | CA122797190 | ADGRV1 | c.7069A>G (p.Met2357Val) c.265+16513A>G (n.265+16513A>G) n.2528A>G c.876A>G n.213A>G c.4360A>G (p.Met1454Val) c.1798A>G n.7082A>G c.7066A>G (p.Met2356Val) c.6988A>G (p.Met2330Val) c.4372A>G (p.Met1458Val) c.6973A>G (p.Met2325Val) c.187A>G (p.Met63Val) n.7085A>G | dbSNP |
5 | g.90692722A>T | CA3339961 | ADGRV1 | c.7069A>T (p.Met2357Leu) c.265+16513A>T (n.265+16513A>T) n.2528A>T c.876A>T n.213A>T c.4360A>T (p.Met1454Leu) c.1798A>T n.7082A>T c.7066A>T (p.Met2356Leu) c.6988A>T (p.Met2330Leu) c.4372A>T (p.Met1458Leu) c.6973A>T (p.Met2325Leu) c.187A>T (p.Met63Leu) n.7085A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692723T>A | CA360371578 | ADGRV1 | c.7070T>A (p.Met2357Lys) c.265+16514T>A (n.265+16514T>A) n.2529T>A c.877T>A n.214T>A c.4361T>A (p.Met1454Lys) c.1799T>A n.7083T>A c.7067T>A (p.Met2356Lys) c.6989T>A (p.Met2330Lys) c.4373T>A (p.Met1458Lys) c.6974T>A (p.Met2325Lys) c.188T>A (p.Met63Lys) n.7086T>A | gnomAD v4 |
5 | g.90692723T>C | CA360371581 | ADGRV1 | c.7070T>C (p.Met2357Thr) c.265+16514T>C (n.265+16514T>C) n.2529T>C c.877T>C n.214T>C c.4361T>C (p.Met1454Thr) c.1799T>C n.7083T>C c.7067T>C (p.Met2356Thr) c.6989T>C (p.Met2330Thr) c.4373T>C (p.Met1458Thr) c.6974T>C (p.Met2325Thr) c.188T>C (p.Met63Thr) n.7086T>C | dbSNP |
5 | g.90692723T>G | CA360371585 | ADGRV1 | c.7070T>G (p.Met2357Arg) c.265+16514T>G (n.265+16514T>G) n.2529T>G c.877T>G n.214T>G c.4361T>G (p.Met1454Arg) c.1799T>G n.7083T>G c.7067T>G (p.Met2356Arg) c.6989T>G (p.Met2330Arg) c.4373T>G (p.Met1458Arg) c.6974T>G (p.Met2325Arg) c.188T>G (p.Met63Arg) n.7086T>G | |
5 | g.90692724G>A | CA3339962 | ADGRV1 | c.7071G>A (p.Met2357Ile) c.265+16515G>A (n.265+16515G>A) n.2530G>A c.878G>A n.215G>A c.4362G>A (p.Met1454Ile) c.1800G>A n.7084G>A c.7068G>A (p.Met2356Ile) c.6990G>A (p.Met2330Ile) c.4374G>A (p.Met1458Ile) c.6975G>A (p.Met2325Ile) c.189G>A (p.Met63Ile) n.7087G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90692724G>C | CA360371592 | ADGRV1 | c.7071G>C (p.Met2357Ile) c.265+16515G>C (n.265+16515G>C) n.2530G>C c.878G>C n.215G>C c.4362G>C (p.Met1454Ile) c.1800G>C n.7084G>C c.7068G>C (p.Met2356Ile) c.6990G>C (p.Met2330Ile) c.4374G>C (p.Met1458Ile) c.6975G>C (p.Met2325Ile) c.189G>C (p.Met63Ile) n.7087G>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692724G= | CA1562859303 | ADGRV1 | c.7071G= (p.Met2357=) c.265+16515G= (n.265+16515G=) n.2530G= c.878G= n.215G= c.4362G= (p.Met1454=) c.1800G= n.7084G= c.7068G= (p.Met2356=) c.6990G= (p.Met2330=) c.4374G= (p.Met1458=) c.6975G= (p.Met2325=) c.189G= (p.Met63=) n.7087G= | |
5 | g.90692724G>T | CA360371597 | ADGRV1 | c.7071G>T (p.Met2357Ile) c.265+16515G>T (n.265+16515G>T) n.2530G>T c.878G>T n.215G>T c.4362G>T (p.Met1454Ile) c.1800G>T n.7084G>T c.7068G>T (p.Met2356Ile) c.6990G>T (p.Met2330Ile) c.4374G>T (p.Met1458Ile) c.6975G>T (p.Met2325Ile) c.189G>T (p.Met63Ile) n.7087G>T | |
5 | g.90692724_90692726delinsGGT | CA1562859302 | ADGRV1 | c.7071_7073delinsGGT (p.Met2357=) c.265+16515_265+16517delinsGGT (n.265+16515_265+16517delinsGGT) n.2530_2532delinsGGT c.878_880delinsGGT n.215_217delinsGGT c.4362_4364delinsGGT (p.Met1454=) c.1800_1802delinsGGT n.7084_7086delinsGGT c.7068_7070delinsGGT (p.Met2356=) c.6990_6992delinsGGT (p.Met2330=) c.4374_4376delinsGGT (p.Met1458=) c.6975_6977delinsGGT (p.Met2325=) c.189_191delinsGGT (p.Met63=) n.7087_7089delinsGGT | |
5 | g.90692725G>A | CA360371599 | ADGRV1 | c.7072G>A (p.Val2358Ile) c.265+16516G>A (n.265+16516G>A) n.2531G>A c.879G>A n.216G>A c.4363G>A (p.Val1455Ile) c.1801G>A n.7085G>A c.7069G>A (p.Val2357Ile) c.6991G>A (p.Val2331Ile) c.4375G>A (p.Val1459Ile) c.6976G>A (p.Val2326Ile) c.190G>A (p.Val64Ile) n.7088G>A | dbSNP gnomAD v4 |
5 | g.90692725G>C | CA360371606 | ADGRV1 | c.7072G>C (p.Val2358Leu) c.265+16516G>C (n.265+16516G>C) n.2531G>C c.879G>C n.216G>C c.4363G>C (p.Val1455Leu) c.1801G>C n.7085G>C c.7069G>C (p.Val2357Leu) c.6991G>C (p.Val2331Leu) c.4375G>C (p.Val1459Leu) c.6976G>C (p.Val2326Leu) c.190G>C (p.Val64Leu) n.7088G>C | |
5 | g.90692725G= | CA1562859305 | ADGRV1 | c.7072G= (p.Val2358=) c.265+16516G= (n.265+16516G=) n.2531G= c.879G= n.216G= c.4363G= (p.Val1455=) c.1801G= n.7085G= c.7069G= (p.Val2357=) c.6991G= (p.Val2331=) c.4375G= (p.Val1459=) c.6976G= (p.Val2326=) c.190G= (p.Val64=) n.7088G= | |
5 | g.90692725G>T | CA360371602 | ADGRV1 | c.7072G>T (p.Val2358Phe) c.265+16516G>T (n.265+16516G>T) n.2531G>T c.879G>T n.216G>T c.4363G>T (p.Val1455Phe) c.1801G>T n.7085G>T c.7069G>T (p.Val2357Phe) c.6991G>T (p.Val2331Phe) c.4375G>T (p.Val1459Phe) c.6976G>T (p.Val2326Phe) c.190G>T (p.Val64Phe) n.7088G>T | |
5 | g.90692725_90692726del | CA1562859304 | ADGRV1 | c.7072_7073del (p.Val2358LeufsTer14) c.265+16516_265+16517del (n.265+16516_265+16517del) n.2531_2532del c.879_880del n.216_217del c.4363_4364del (p.Val1455LeufsTer14) c.1801_1802del n.7085_7086del c.7069_7070del (p.Val2357LeufsTer14) c.6991_6992del (p.Val2331LeufsTer14) c.4375_4376del (p.Val1459LeufsTer14) c.6976_6977del (p.Val2326LeufsTer14) c.190_191del (p.Val64LeufsTer14) n.7088_7089del | dbSNP |
5 | g.90692726T>A | CA360371611 | ADGRV1 | c.7073T>A (p.Val2358Asp) c.265+16517T>A (n.265+16517T>A) n.2532T>A c.880T>A n.217T>A c.4364T>A (p.Val1455Asp) c.1802T>A n.7086T>A c.7070T>A (p.Val2357Asp) c.6992T>A (p.Val2331Asp) c.4376T>A (p.Val1459Asp) c.6977T>A (p.Val2326Asp) c.191T>A (p.Val64Asp) n.7089T>A | |
5 | g.90692726T>C | CA360371612 | ADGRV1 | c.7073T>C (p.Val2358Ala) c.265+16517T>C (n.265+16517T>C) n.2532T>C c.880T>C n.217T>C c.4364T>C (p.Val1455Ala) c.1802T>C n.7086T>C c.7070T>C (p.Val2357Ala) c.6992T>C (p.Val2331Ala) c.4376T>C (p.Val1459Ala) c.6977T>C (p.Val2326Ala) c.191T>C (p.Val64Ala) n.7089T>C | |
5 | g.90692726T>G | CA360371618 | ADGRV1 | c.7073T>G (p.Val2358Gly) c.265+16517T>G (n.265+16517T>G) n.2532T>G c.880T>G n.217T>G c.4364T>G (p.Val1455Gly) c.1802T>G n.7086T>G c.7070T>G (p.Val2357Gly) c.6992T>G (p.Val2331Gly) c.4376T>G (p.Val1459Gly) c.6977T>G (p.Val2326Gly) c.191T>G (p.Val64Gly) n.7089T>G | |
5 | g.90692727T>A | CA445404543 | ADGRV1 | c.7074T>A (p.Val2358=) c.265+16518T>A (n.265+16518T>A) n.2533T>A c.881T>A n.218T>A c.4365T>A (p.Val1455=) c.1803T>A n.7087T>A c.7071T>A (p.Val2357=) c.6993T>A (p.Val2331=) c.4377T>A (p.Val1459=) c.6978T>A (p.Val2326=) c.192T>A (p.Val64=) n.7090T>A | |
5 | g.90692727T>C | CA445404544 | ADGRV1 | c.7074T>C (p.Val2358=) c.265+16518T>C (n.265+16518T>C) n.2533T>C c.881T>C n.218T>C c.4365T>C (p.Val1455=) c.1803T>C n.7087T>C c.7071T>C (p.Val2357=) c.6993T>C (p.Val2331=) c.4377T>C (p.Val1459=) c.6978T>C (p.Val2326=) c.192T>C (p.Val64=) n.7090T>C | |
5 | g.90692727T>G | CA445404545 | ADGRV1 | c.7074T>G (p.Val2358=) c.265+16518T>G (n.265+16518T>G) n.2533T>G c.881T>G n.218T>G c.4365T>G (p.Val1455=) c.1803T>G n.7087T>G c.7071T>G (p.Val2357=) c.6993T>G (p.Val2331=) c.4377T>G (p.Val1459=) c.6978T>G (p.Val2326=) c.192T>G (p.Val64=) n.7090T>G | |
5 | g.90692728T>A | CA360371621 | ADGRV1 | c.7075T>A (p.Tyr2359Asn) c.265+16519T>A (n.265+16519T>A) n.2534T>A c.882T>A n.219T>A c.4366T>A (p.Tyr1456Asn) c.1804T>A n.7088T>A c.7072T>A (p.Tyr2358Asn) c.6994T>A (p.Tyr2332Asn) c.4378T>A (p.Tyr1460Asn) c.6979T>A (p.Tyr2327Asn) c.193T>A (p.Tyr65Asn) n.7091T>A | |
5 | g.90692728T>C | CA360371622 | ADGRV1 | c.7075T>C (p.Tyr2359His) c.265+16519T>C (n.265+16519T>C) n.2534T>C c.882T>C n.219T>C c.4366T>C (p.Tyr1456His) c.1804T>C n.7088T>C c.7072T>C (p.Tyr2358His) c.6994T>C (p.Tyr2332His) c.4378T>C (p.Tyr1460His) c.6979T>C (p.Tyr2327His) c.193T>C (p.Tyr65His) n.7091T>C | |
5 | g.90692728T>G | CA360371623 | ADGRV1 | c.7075T>G (p.Tyr2359Asp) c.265+16519T>G (n.265+16519T>G) n.2534T>G c.882T>G n.219T>G c.4366T>G (p.Tyr1456Asp) c.1804T>G n.7088T>G c.7072T>G (p.Tyr2358Asp) c.6994T>G (p.Tyr2332Asp) c.4378T>G (p.Tyr1460Asp) c.6979T>G (p.Tyr2327Asp) c.193T>G (p.Tyr65Asp) n.7091T>G | gnomAD v4 |
5 | g.90692729A= | CA1562859306 | ADGRV1 | c.7076A= (p.Tyr2359=) c.265+16520A= (n.265+16520A=) n.2535A= c.883A= n.220A= c.4367A= (p.Tyr1456=) c.1805A= n.7089A= c.7073A= (p.Tyr2358=) c.6995A= (p.Tyr2332=) c.4379A= (p.Tyr1460=) c.6980A= (p.Tyr2327=) c.194A= (p.Tyr65=) n.7092A= | |
5 | g.90692729A>C | CA360371627 | ADGRV1 | c.7076A>C (p.Tyr2359Ser) c.265+16520A>C (n.265+16520A>C) n.2535A>C c.883A>C n.220A>C c.4367A>C (p.Tyr1456Ser) c.1805A>C n.7089A>C c.7073A>C (p.Tyr2358Ser) c.6995A>C (p.Tyr2332Ser) c.4379A>C (p.Tyr1460Ser) c.6980A>C (p.Tyr2327Ser) c.194A>C (p.Tyr65Ser) n.7092A>C | |
5 | g.90692729A>G | CA360371631 | ADGRV1 | c.7076A>G (p.Tyr2359Cys) c.265+16520A>G (n.265+16520A>G) n.2535A>G c.883A>G n.220A>G c.4367A>G (p.Tyr1456Cys) c.1805A>G n.7089A>G c.7073A>G (p.Tyr2358Cys) c.6995A>G (p.Tyr2332Cys) c.4379A>G (p.Tyr1460Cys) c.6980A>G (p.Tyr2327Cys) c.194A>G (p.Tyr65Cys) n.7092A>G | |
5 | g.90692729A>T | CA360371637 | ADGRV1 | c.7076A>T (p.Tyr2359Phe) c.265+16520A>T (n.265+16520A>T) n.2535A>T c.883A>T n.220A>T c.4367A>T (p.Tyr1456Phe) c.1805A>T n.7089A>T c.7073A>T (p.Tyr2358Phe) c.6995A>T (p.Tyr2332Phe) c.4379A>T (p.Tyr1460Phe) c.6980A>T (p.Tyr2327Phe) c.194A>T (p.Tyr65Phe) n.7092A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90692730T>A | CA360371640 | ADGRV1 | c.7077T>A (p.Tyr2359Ter) c.265+16521T>A (n.265+16521T>A) n.2536T>A c.884T>A n.221T>A c.4368T>A (p.Tyr1456Ter) c.1806T>A n.7090T>A c.7074T>A (p.Tyr2358Ter) c.6996T>A (p.Tyr2332Ter) c.4380T>A (p.Tyr1460Ter) c.6981T>A (p.Tyr2327Ter) c.195T>A (p.Tyr65Ter) n.7093T>A | |
5 | g.90692730T>C | CA445404546 | ADGRV1 | c.7077T>C (p.Tyr2359=) c.265+16521T>C (n.265+16521T>C) n.2536T>C c.884T>C n.221T>C c.4368T>C (p.Tyr1456=) c.1806T>C n.7090T>C c.7074T>C (p.Tyr2358=) c.6996T>C (p.Tyr2332=) c.4380T>C (p.Tyr1460=) c.6981T>C (p.Tyr2327=) c.195T>C (p.Tyr65=) n.7093T>C | |
5 | g.90692730T>G | CA360371644 | ADGRV1 | c.7077T>G (p.Tyr2359Ter) c.265+16521T>G (n.265+16521T>G) n.2536T>G c.884T>G n.221T>G c.4368T>G (p.Tyr1456Ter) c.1806T>G n.7090T>G c.7074T>G (p.Tyr2358Ter) c.6996T>G (p.Tyr2332Ter) c.4380T>G (p.Tyr1460Ter) c.6981T>G (p.Tyr2327Ter) c.195T>G (p.Tyr65Ter) n.7093T>G | |
5 | g.90692731C>A | CA360371649 | ADGRV1 | c.7078C>A (p.Arg2360Ser) c.265+16522C>A (n.265+16522C>A) n.2537C>A c.885C>A n.222C>A c.4369C>A (p.Arg1457Ser) c.1807C>A n.7091C>A c.7075C>A (p.Arg2359Ser) c.6997C>A (p.Arg2333Ser) c.4381C>A (p.Arg1461Ser) c.6982C>A (p.Arg2328Ser) c.196C>A (p.Arg66Ser) n.7094C>A | gnomAD v4 |
5 | g.90692731C= | CA1562859309 | ADGRV1 | c.7078C= (p.Arg2360=) c.265+16522C= (n.265+16522C=) n.2537C= c.885C= n.222C= c.4369C= (p.Arg1457=) c.1807C= n.7091C= c.7075C= (p.Arg2359=) c.6997C= (p.Arg2333=) c.4381C= (p.Arg1461=) c.6982C= (p.Arg2328=) c.196C= (p.Arg66=) n.7094C= | |
5 | g.90692731C>G | CA360371663 | ADGRV1 | c.7078C>G (p.Arg2360Gly) c.265+16522C>G (n.265+16522C>G) n.2537C>G c.885C>G n.222C>G c.4369C>G (p.Arg1457Gly) c.1807C>G n.7091C>G c.7075C>G (p.Arg2359Gly) c.6997C>G (p.Arg2333Gly) c.4381C>G (p.Arg1461Gly) c.6982C>G (p.Arg2328Gly) c.196C>G (p.Arg66Gly) n.7094C>G | |
5 | g.90692731C>T | CA3339963 | ADGRV1 | c.7078C>T (p.Arg2360Cys) c.265+16522C>T (n.265+16522C>T) n.2537C>T c.885C>T n.222C>T c.4369C>T (p.Arg1457Cys) c.1807C>T n.7091C>T c.7075C>T (p.Arg2359Cys) c.6997C>T (p.Arg2333Cys) c.4381C>T (p.Arg1461Cys) c.6982C>T (p.Arg2328Cys) c.196C>T (p.Arg66Cys) n.7094C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90692731_90692732delinsCG | CA1562859308 | ADGRV1 | c.7078_7079delinsCG (p.Arg2360=) c.265+16522_265+16523delinsCG (n.265+16522_265+16523delinsCG) n.2537_2538delinsCG c.885_886delinsCG n.222_223delinsCG c.4369_4370delinsCG (p.Arg1457=) c.1807_1808delinsCG n.7091_7092delinsCG c.7075_7076delinsCG (p.Arg2359=) c.6997_6998delinsCG (p.Arg2333=) c.4381_4382delinsCG (p.Arg1461=) c.6982_6983delinsCG (p.Arg2328=) c.196_197delinsCG (p.Arg66=) n.7094_7095delinsCG | |
5 | g.90692731_90692732delinsTA | CA1562859307 | ADGRV1 | c.7078_7079delinsTA (p.Arg2360Tyr) c.265+16522_265+16523delinsTA (n.265+16522_265+16523delinsTA) n.2537_2538delinsTA c.885_886delinsTA n.222_223delinsTA c.4369_4370delinsTA (p.Arg1457Tyr) c.1807_1808delinsTA n.7091_7092delinsTA c.7075_7076delinsTA (p.Arg2359Tyr) c.6997_6998delinsTA (p.Arg2333Tyr) c.4381_4382delinsTA (p.Arg1461Tyr) c.6982_6983delinsTA (p.Arg2328Tyr) c.196_197delinsTA (p.Arg66Tyr) n.7094_7095delinsTA | ClinVar dbSNP |
5 | g.90692732G>A | CA138192 | ADGRV1 | c.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 |
5 | g.90692732G>C | CA360371679 | ADGRV1 | c.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 |
5 | g.90692732G= | CA1562859310 | ADGRV1 | c.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= | |
5 | g.90692732G>T | CA360371671 | ADGRV1 | c.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 | |
5 | g.90692733T>A | CA445404552 | ADGRV1 | c.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 | |
5 | g.90692733T>C | CA445404549 | ADGRV1 | c.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 | |
5 | g.90692733T>G | CA445404551 | ADGRV1 | c.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 | |
5 | g.90692734G>A | CA360371682 | ADGRV1 | c.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 |
5 | g.90692734G>C | CA360371685 | ADGRV1 | c.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 | |
5 | g.90692734G>T | CA360371690 | ADGRV1 | c.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 | |
5 | g.90692735T>A | CA360371694 | ADGRV1 | c.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 |
5 | g.90692735T>C | CA360371697 | ADGRV1 | c.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 | |
5 | g.90692735T>G | CA360371700 | ADGRV1 | c.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 | |
5 | g.90692735T= | CA1562859311 | ADGRV1 | c.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= | |
5 | g.90692736T>A | CA445404553 | ADGRV1 | c.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 | |
5 | g.90692736T>C | CA445404554 | ADGRV1 | c.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 | |
5 | g.90692736T>G | CA445404555 | ADGRV1 | c.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 | |
5 | g.90692737C>A | CA360371710 | ADGRV1 | c.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 | |
5 | g.90692737C>G | CA360371704 | ADGRV1 | c.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 | |
5 | g.90692737C>T | CA360371707 | ADGRV1 | c.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 |
5 | g.90692738A= | CA1562859312 | ADGRV1 | c.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= | |
5 | g.90692738A>C | CA360371711 | ADGRV1 | c.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 | |
5 | g.90692738A>G | CA122797191 | ADGRV1 | c.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 |
5 | g.90692738A>T | CA360371715 | ADGRV1 | c.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 | |
5 | g.90692739A>C | CA360371722 | ADGRV1 | c.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 | |
5 | g.90692739A>G | CA445404558 | ADGRV1 | c.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 | |
5 | g.90692739A>T | CA360371729 | ADGRV1 | c.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 | |
5 | g.90692740G>A | CA360371738 | ADGRV1 | c.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 |
5 | g.90692740G>C | CA360371732 | ADGRV1 | c.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 |
5 | g.90692740G>T | CA360371734 | ADGRV1 | c.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 | |
5 | g.90692741A>C | CA360371741 | ADGRV1 | c.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 | |
5 | g.90692741A>G | CA360371743 | ADGRV1 | c.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 |
5 | g.90692741A>T | CA360371747 | ADGRV1 | c.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 | |
5 | g.90692742G>A | CA445404560 | ADGRV1 | c.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 |
5 | g.90692742G>C | CA360371748 | ADGRV1 | c.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 | |
5 | g.90692742G>T | CA360371749 | ADGRV1 | c.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 | |
5 | g.90692743C>A | CA360371752 | ADGRV1 | c.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 |
5 | g.90692743C= | CA1562859313 | ADGRV1 | c.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= | |
5 | g.90692743C>G | CA360371754 | ADGRV1 | c.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 | |
5 | g.90692743C>T | CA360371758 | ADGRV1 | c.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 |
5 | g.90692744C>A | CA360371763 | ADGRV1 | c.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 | |
5 | g.90692744C>G | CA360371767 | ADGRV1 | c.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 | |
5 | g.90692744C>T | CA360371768 | ADGRV1 | c.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 | |
5 | g.90692745T>A | CA445404566 | ADGRV1 | c.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 |
5 | g.90692745T>C | CA445404567 | ADGRV1 | c.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 |
5 | g.90692745T>G | CA445404569 | ADGRV1 | c.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 | |
5 | g.90692745T= | CA1562859314 | ADGRV1 | c.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= | |
5 | g.90692746C>A | CA360371769 | ADGRV1 | c.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 | |
5 | g.90692746C>G | CA360371770 | ADGRV1 | c.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 | |
5 | g.90692746C>T | CA445404572 | ADGRV1 | c.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 |
5 | g.90692747T>A | CA360371775 | ADGRV1 | c.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 | |
5 | g.90692747T>C | CA360371787 | ADGRV1 | c.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 | |
5 | g.90692747T>G | CA360371776 | ADGRV1 | c.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 |
5 | g.90692747T= | CA1562859315 | ADGRV1 | c.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= | |
5 | g.90692748G>A | CA244177 | ADGRV1 | c.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 |
5 | g.90692748G>C | CA445404574 | ADGRV1 | c.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 | |
5 | g.90692748G= | CA1562859316 | ADGRV1 | c.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= | |
5 | g.90692748G>T | CA445404575 | ADGRV1 | c.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 |
5 | g.90692749G>A | CA360371790 | ADGRV1 | c.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 | |
5 | g.90692749G>C | CA360371791 | ADGRV1 | c.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 | |
5 | g.90692749G>T | CA360371795 | ADGRV1 | c.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 |
5 | g.90692750A>C | CA360371798 | ADGRV1 | c.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 | |
5 | g.90692750A>G | CA360371799 | ADGRV1 | c.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 |
5 | g.90692750A>T | CA360371800 | ADGRV1 | c.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 | |
5 | g.90692751A>C | CA360371805 | ADGRV1 | c.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 | |
5 | g.90692751A>G | CA445404577 | ADGRV1 | c.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 | |
5 | g.90692751A>T | CA360371809 | ADGRV1 | c.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 | |
5 | g.90692752A= | CA1562859317 | ADGRV1 | c.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= | |
5 | g.90692752A>C | CA445404578 | ADGRV1 | c.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 | |
5 | g.90692752A>G | CA360371810 | ADGRV1 | c.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 |
5 | g.90692752A>T | CA360371811 | ADGRV1 | c.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 |
5 | g.90692753G>A | CA360371813 | ADGRV1 | c.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 |
5 | g.90692753G>C | CA360371817 | ADGRV1 | c.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 | |
5 | g.90692753G= | CA1562859318 | ADGRV1 | c.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= | |
5 | g.90692753G>T | CA360371820 | ADGRV1 | c.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 | |
5 | g.90692754A>C | CA360371839 | ADGRV1 | c.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 | |
5 | g.90692754A>G | CA445404579 | ADGRV1 | c.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 | |
5 | g.90692754A>T | CA360371848 | ADGRV1 | c.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 | |
5 | g.90692755A>C | CA360371853 | ADGRV1 | c.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 |
5 | g.90692755A>G | CA360371864 | ADGRV1 | c.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 |
5 | g.90692755A>T | CA360371865 | ADGRV1 | c.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 | |
5 | g.90692756G>A | CA360371869 | ADGRV1 | c.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 | |
5 | g.90692756G>C | CA360371872 | ADGRV1 | c.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 | |
5 | g.90692756G>T | CA360371878 | ADGRV1 | c.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 | |
5 | g.90692757T>A | CA360371879 | ADGRV1 | c.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 | |
5 | g.90692757T>C | CA445404582 | ADGRV1 | c.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 | |
5 | g.90692757T>G | CA360371880 | ADGRV1 | c.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 | |
5 | g.90692758T>A | CA360371882 | ADGRV1 | c.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 | |
5 | g.90692758T>C | CA360371885 | ADGRV1 | c.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 | |
5 | g.90692758T>G | CA360371889 | ADGRV1 | c.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 | |
5 | g.90692759C>A | CA360371917 | ADGRV1 | c.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 |
5 | g.90692759C= | CA1562859319 | ADGRV1 | c.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= | |
5 | g.90692759C>G | CA360371929 | ADGRV1 | c.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 |
5 | g.90692759C>T | CA360371926 | ADGRV1 | c.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 |
5 | g.90692759_90692760del | CA2674567855 | ADGRV1 | c.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 |
5 | g.90692760C>A | CA445404585 | ADGRV1 | c.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 | |
5 | g.90692760C>G | CA445404584 | ADGRV1 | c.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 | |
5 | g.90692760C>T | CA445404586 | ADGRV1 | c.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 | |
5 | g.90692761T>A | CA360371932 | ADGRV1 | c.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 | |
5 | g.90692761T>C | CA360371939 | ADGRV1 | c.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 |
5 | g.90692761T>G | CA360371935 | ADGRV1 | c.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 | |
5 | g.90692762G>A | CA3339964 | ADGRV1 | c.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 |
5 | g.90692762G>C | CA360371945 | ADGRV1 | c.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 | |
5 | g.90692762G= | CA1562859320 | ADGRV1 | c.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= | |
5 | g.90692762G>T | CA360371948 | ADGRV1 | c.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 |
5 | g.90692763T>A | CA360371954 | ADGRV1 | c.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 | |
5 | g.90692763T>C | CA445404589 | ADGRV1 | c.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 |
5 | g.90692763T>G | CA360371965 | ADGRV1 | c.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 | |
5 | g.90692764G>A | CA360371970 | ADGRV1 | c.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 |
5 | g.90692764G>C | CA360371976 | ADGRV1 | c.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 | |
5 | g.90692764G>T | CA360371979 | ADGRV1 | c.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 |
5 | g.90692765C>A | CA360371980 | ADGRV1 | c.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 |
5 | g.90692765C= | CA1562859321 | ADGRV1 | c.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= | |
5 | g.90692765C>G | CA360371981 | ADGRV1 | c.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 | |
5 | g.90692765C>T | CA360371982 | ADGRV1 | c.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 |
5 | g.90692766T>A | CA445404593 | ADGRV1 | c.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 | |
5 | g.90692766T>C | CA445404594 | ADGRV1 | c.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 | |
5 | g.90692766T>G | CA445404595 | ADGRV1 | c.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 | |
5 | g.90692766T= | CA1562859322 | ADGRV1 | c.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= | |
5 | g.90692767A>C | CA360371996 | ADGRV1 | c.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 |
5 | g.90692767A>G | CA360371986 | ADGRV1 | c.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 | |
5 | g.90692767A>T | CA360371990 | ADGRV1 | c.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 | |
5 | g.90692768dup | CA561259820 | ADGRV1 | c.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 |
5 | g.90692768A= | CA1562859323 | ADGRV1 | c.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= | |
5 | g.90692768A>C | CA360372000 | ADGRV1 | c.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 |
5 | g.90692768A>G | CA360372006 | ADGRV1 | c.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 |
5 | g.90692768A>T | CA360372009 | ADGRV1 | c.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 | |
5 | g.90692769T>A | CA360372013 | ADGRV1 | c.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 | |
5 | g.90692769T>C | CA445404599 | ADGRV1 | c.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 |
5 | g.90692769T>G | CA122797192 | ADGRV1 | c.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 |
5 | g.90692769T= | CA1562859324 | ADGRV1 | c.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= | |
5 | g.90692770A>C | CA360372020 | ADGRV1 | c.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 | |
5 | g.90692770A>G | CA360372023 | ADGRV1 | c.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 | |
5 | g.90692770A>T | CA360372026 | ADGRV1 | c.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 | |
5 | g.90692771T>A | CA360372031 | ADGRV1 | c.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 | |
5 | g.90692771T>C | CA360372041 | ADGRV1 | c.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 |
5 | g.90692771T>G | CA3339965 | ADGRV1 | c.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 |
5 | g.90692771T= | CA1562859325 | ADGRV1 | c.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= | |
5 | g.90692772A>C | CA445404603 | ADGRV1 | c.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 | |
5 | g.90692772A>G | CA360372050 | ADGRV1 | c.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 |
5 | g.90692772A>T | CA445404604 | ADGRV1 | c.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 | |
5 | g.90692773A>C | CA360372060 | ADGRV1 | c.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 | |
5 | g.90692773A>G | CA360372054 | ADGRV1 | c.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 | |
5 | g.90692773A>T | CA360372056 | ADGRV1 | c.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 |
5 | g.90692774C>A | CA360372064 | ADGRV1 | c.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 |
5 | g.90692774C>G | CA360372068 | ADGRV1 | c.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 | |
5 | g.90692774C>T | CA360372071 | ADGRV1 | c.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 | |
5 | g.90692775T>A | CA445404611 | ADGRV1 | c.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 | |
5 | g.90692775T>C | CA445404612 | ADGRV1 | c.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 | |
5 | g.90692775T>G | CA3339966 | ADGRV1 | c.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 |
5 | g.90692775T= | CA1562859326 | ADGRV1 | c.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= | |
5 | g.90692776G>A | CA360372078 | ADGRV1 | c.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 | |
5 | g.90692776G>C | CA360372083 | ADGRV1 | c.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 | |
5 | g.90692776G>T | CA360372086 | ADGRV1 | c.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 |
5 | g.90692777T>A | CA360372087 | ADGRV1 | c.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 | |
5 | g.90692777T>C | CA360372089 | ADGRV1 | c.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 |
5 | g.90692777T>G | CA360372093 | ADGRV1 | c.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 | |
5 | g.90692777dup | CA2573140007 | ADGRV1 | c.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 |
5 | g.90692778C>A | CA445404614 | ADGRV1 | c.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 |
5 | g.90692778C>G | CA445404615 | ADGRV1 | c.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 | |
5 | g.90692778C>T | CA445404616 | ADGRV1 | c.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 |
5 | g.90692779A>C | CA445404617 | ADGRV1 | c.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 | |
5 | g.90692779A>G | CA360372095 | ADGRV1 | c.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 |
5 | g.90692779A>T | CA360372094 | ADGRV1 | c.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 | |
5 | g.90692780G>A | CA360372096 | ADGRV1 | c.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 | |
5 | g.90692780G>C | CA360372100 | ADGRV1 | c.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 | |
5 | g.90692780G>T | CA360372101 | ADGRV1 | c.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 | |
5 | g.90692781G>A | CA445404621 | ADGRV1 | c.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 |
5 | g.90692781G>C | CA360372104 | ADGRV1 | c.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 |
5 | g.90692781G= | CA1562859327 | ADGRV1 | c.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= | |
5 | g.90692781G>T | CA360372114 | ADGRV1 | c.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 |
5 | g.90692782C>A | CA445404624 | ADGRV1 | c.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 |
5 | g.90692782C= | CA1562859328 | ADGRV1 | c.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= | |
5 | g.90692782C>G | CA360372119 | ADGRV1 | c.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 | |
5 | g.90692782C>T | CA3339967 | ADGRV1 | c.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 |
5 | g.90692783G>A | CA360372133 | ADGRV1 | c.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 |
5 | g.90692783G>C | CA360372143 | ADGRV1 | c.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 | |
5 | g.90692783G= | CA1562859329 | ADGRV1 | c.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= | |
5 | g.90692783G>T | CA3339968 | ADGRV1 | c.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 |
5 | g.90692784A>C | CA445404626 | ADGRV1 | c.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 |
5 | g.90692784A>G | CA445404627 | ADGRV1 | c.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 | |
5 | g.90692784A>T | CA445404628 | ADGRV1 | c.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 | |
5 | g.90692785A>C | CA360372159 | ADGRV1 | c.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 | |
5 | g.90692785A>G | CA360372160 | ADGRV1 | c.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 | |
5 | g.90692785A>T | CA360372161 | ADGRV1 | c.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 | |
5 | g.90692786G>A | CA360372165 | ADGRV1 | c.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 | |
5 | g.90692786G>C | CA360372167 | ADGRV1 | c.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 | |
5 | g.90692786G>T | CA360372162 | ADGRV1 | c.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 |
5 | g.90692787G>A | CA360372177 | ADGRV1 | c.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 | |
5 | g.90692787G>C | CA360372173 | ADGRV1 | c.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 | |
5 | g.90692787G>T | CA360372181 | ADGRV1 | c.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 | |
5 | g.90692788T>A | CA360372185 | ADGRV1 | c.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 | |
5 | g.90692788T>C | CA360372188 | ADGRV1 | c.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 |
5 | g.90692788T>G | CA360372191 | ADGRV1 | c.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 | |
5 | g.90692789A= | CA1562859330 | ADGRV1 | c.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= | |
5 | g.90692789A>G | CA122797193 | ADGRV1 | c.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 |
5 | g.90692791A= | CA1562859331 | ADGRV1 | c.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= | |
5 | g.90692791A>G | CA1562859332 | ADGRV1 | c.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 |
5 | g.90692792T>A | CA2674567856 | ADGRV1 | c.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 |
5 | g.90692792T>C | CA815374793 | ADGRV1 | c.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 |
5 | g.90692792T>G | CA2674567857 | ADGRV1 | c.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 |
5 | g.90692792T= | CA1562859333 | ADGRV1 | c.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= | |
5 | g.90692792_90692793insACAC | CA2767420551 | ADGRV1 | c.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 | |
5 | g.90692793G>A | CA2674567858 | ADGRV1 | c.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 |
5 | g.90692793_90692795del | CA2767420552 | ADGRV1 | c.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 | |
5 | g.90692795_90692796del | CA2580613607 | ADGRV1 | c.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 |
5 | g.90692794A>C | CA2580073734 | ADGRV1 | c.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 |