UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90791204G>A | CA360401687 | ADGRV1 | c.14375G>A (p.Gly4792Glu) c.3329G>A (p.Gly1110Glu) c.50G>A (p.Gly17Glu) n.1642G>A n.141G>A c.1004G>A (p.Gly335Glu) c.265+114995G>A (n.265+114995G>A) c.785G>A (p.Gly262Glu) c.1358G>A (p.Gly453Glu) n.50G>A n.14388G>A c.14372G>A (p.Gly4791Glu) c.14294G>A (p.Gly4765Glu) c.11678G>A (p.Gly3893Glu) c.14396G>A (p.Gly4799Glu) c.14393G>A (p.Gly4798Glu) c.14315G>A (p.Gly4772Glu) c.14300G>A (p.Gly4767Glu) c.7514G>A (p.Gly2505Glu) c.7493G>A (p.Gly2498Glu) n.14391G>A | |
| 5 | g.90791204G>C | CA360401688 | ADGRV1 | c.14375G>C (p.Gly4792Ala) c.3329G>C (p.Gly1110Ala) c.50G>C (p.Gly17Ala) n.1642G>C n.141G>C c.1004G>C (p.Gly335Ala) c.265+114995G>C (n.265+114995G>C) c.785G>C (p.Gly262Ala) c.1358G>C (p.Gly453Ala) n.50G>C n.14388G>C c.14372G>C (p.Gly4791Ala) c.14294G>C (p.Gly4765Ala) c.11678G>C (p.Gly3893Ala) c.14396G>C (p.Gly4799Ala) c.14393G>C (p.Gly4798Ala) c.14315G>C (p.Gly4772Ala) c.14300G>C (p.Gly4767Ala) c.7514G>C (p.Gly2505Ala) c.7493G>C (p.Gly2498Ala) n.14391G>C | |
| 5 | g.90791204G= | CA1562902284 | ADGRV1 | c.14375G= (p.Gly4792=) c.3329G= (p.Gly1110=) c.50G= (p.Gly17=) n.1642G= n.141G= c.1004G= (p.Gly335=) c.265+114995G= (n.265+114995G=) c.785G= (p.Gly262=) c.1358G= (p.Gly453=) n.50G= n.14388G= c.14372G= (p.Gly4791=) c.14294G= (p.Gly4765=) c.11678G= (p.Gly3893=) c.14396G= (p.Gly4799=) c.14393G= (p.Gly4798=) c.14315G= (p.Gly4772=) c.14300G= (p.Gly4767=) c.7514G= (p.Gly2505=) c.7493G= (p.Gly2498=) n.14391G= | |
| 5 | g.90791204G>T | CA122811327 | ADGRV1 | c.14375G>T (p.Gly4792Val) c.3329G>T (p.Gly1110Val) c.50G>T (p.Gly17Val) n.1642G>T n.141G>T c.1004G>T (p.Gly335Val) c.265+114995G>T (n.265+114995G>T) c.785G>T (p.Gly262Val) c.1358G>T (p.Gly453Val) n.50G>T n.14388G>T c.14372G>T (p.Gly4791Val) c.14294G>T (p.Gly4765Val) c.11678G>T (p.Gly3893Val) c.14396G>T (p.Gly4799Val) c.14393G>T (p.Gly4798Val) c.14315G>T (p.Gly4772Val) c.14300G>T (p.Gly4767Val) c.7514G>T (p.Gly2505Val) c.7493G>T (p.Gly2498Val) n.14391G>T | dbSNP |
| 5 | g.90791205A>C | CA445467607 | ADGRV1 | c.14376A>C (p.Gly4792=) c.3330A>C (p.Gly1110=) c.51A>C (p.Gly17=) n.1643A>C n.142A>C c.1005A>C (p.Gly335=) c.265+114996A>C (n.265+114996A>C) c.786A>C (p.Gly262=) c.1359A>C (p.Gly453=) n.51A>C n.14389A>C c.14373A>C (p.Gly4791=) c.14295A>C (p.Gly4765=) c.11679A>C (p.Gly3893=) c.14397A>C (p.Gly4799=) c.14394A>C (p.Gly4798=) c.14316A>C (p.Gly4772=) c.14301A>C (p.Gly4767=) c.7515A>C (p.Gly2505=) c.7494A>C (p.Gly2498=) n.14392A>C | |
| 5 | g.90791205A>G | CA445467608 | ADGRV1 | c.14376A>G (p.Gly4792=) c.3330A>G (p.Gly1110=) c.51A>G (p.Gly17=) n.1643A>G n.142A>G c.1005A>G (p.Gly335=) c.265+114996A>G (n.265+114996A>G) c.786A>G (p.Gly262=) c.1359A>G (p.Gly453=) n.51A>G n.14389A>G c.14373A>G (p.Gly4791=) c.14295A>G (p.Gly4765=) c.11679A>G (p.Gly3893=) c.14397A>G (p.Gly4799=) c.14394A>G (p.Gly4798=) c.14316A>G (p.Gly4772=) c.14301A>G (p.Gly4767=) c.7515A>G (p.Gly2505=) c.7494A>G (p.Gly2498=) n.14392A>G | |
| 5 | g.90791205A>T | CA445467610 | ADGRV1 | c.14376A>T (p.Gly4792=) c.3330A>T (p.Gly1110=) c.51A>T (p.Gly17=) n.1643A>T n.142A>T c.1005A>T (p.Gly335=) c.265+114996A>T (n.265+114996A>T) c.786A>T (p.Gly262=) c.1359A>T (p.Gly453=) n.51A>T n.14389A>T c.14373A>T (p.Gly4791=) c.14295A>T (p.Gly4765=) c.11679A>T (p.Gly3893=) c.14397A>T (p.Gly4799=) c.14394A>T (p.Gly4798=) c.14316A>T (p.Gly4772=) c.14301A>T (p.Gly4767=) c.7515A>T (p.Gly2505=) c.7494A>T (p.Gly2498=) n.14392A>T | |
| 5 | g.90791206A= | CA1562902285 | ADGRV1 | c.14377A= (p.Thr4793=) c.3331A= (p.Thr1111=) c.52A= (p.Thr18=) n.1644A= n.143A= c.1006A= (p.Thr336=) c.265+114997A= (n.265+114997A=) c.787A= (p.Thr263=) c.1360A= (p.Thr454=) n.52A= n.14390A= c.14374A= (p.Thr4792=) c.14296A= (p.Thr4766=) c.11680A= (p.Thr3894=) c.14398A= (p.Thr4800=) c.14395A= (p.Thr4799=) c.14317A= (p.Thr4773=) c.14302A= (p.Thr4768=) c.7516A= (p.Thr2506=) c.7495A= (p.Thr2499=) n.14393A= | |
| 5 | g.90791206A>C | CA360401691 | ADGRV1 | c.14377A>C (p.Thr4793Pro) c.3331A>C (p.Thr1111Pro) c.52A>C (p.Thr18Pro) n.1644A>C n.143A>C c.1006A>C (p.Thr336Pro) c.265+114997A>C (n.265+114997A>C) c.787A>C (p.Thr263Pro) c.1360A>C (p.Thr454Pro) n.52A>C n.14390A>C c.14374A>C (p.Thr4792Pro) c.14296A>C (p.Thr4766Pro) c.11680A>C (p.Thr3894Pro) c.14398A>C (p.Thr4800Pro) c.14395A>C (p.Thr4799Pro) c.14317A>C (p.Thr4773Pro) c.14302A>C (p.Thr4768Pro) c.7516A>C (p.Thr2506Pro) c.7495A>C (p.Thr2499Pro) n.14393A>C | |
| 5 | g.90791206A>G | CA360401692 | ADGRV1 | c.14377A>G (p.Thr4793Ala) c.3331A>G (p.Thr1111Ala) c.52A>G (p.Thr18Ala) n.1644A>G n.143A>G c.1006A>G (p.Thr336Ala) c.265+114997A>G (n.265+114997A>G) c.787A>G (p.Thr263Ala) c.1360A>G (p.Thr454Ala) n.52A>G n.14390A>G c.14374A>G (p.Thr4792Ala) c.14296A>G (p.Thr4766Ala) c.11680A>G (p.Thr3894Ala) c.14398A>G (p.Thr4800Ala) c.14395A>G (p.Thr4799Ala) c.14317A>G (p.Thr4773Ala) c.14302A>G (p.Thr4768Ala) c.7516A>G (p.Thr2506Ala) c.7495A>G (p.Thr2499Ala) n.14393A>G | dbSNP gnomAD v4 |
| 5 | g.90791206A>T | CA360401693 | ADGRV1 | c.14377A>T (p.Thr4793Ser) c.3331A>T (p.Thr1111Ser) c.52A>T (p.Thr18Ser) n.1644A>T n.143A>T c.1006A>T (p.Thr336Ser) c.265+114997A>T (n.265+114997A>T) c.787A>T (p.Thr263Ser) c.1360A>T (p.Thr454Ser) n.52A>T n.14390A>T c.14374A>T (p.Thr4792Ser) c.14296A>T (p.Thr4766Ser) c.11680A>T (p.Thr3894Ser) c.14398A>T (p.Thr4800Ser) c.14395A>T (p.Thr4799Ser) c.14317A>T (p.Thr4773Ser) c.14302A>T (p.Thr4768Ser) c.7516A>T (p.Thr2506Ser) c.7495A>T (p.Thr2499Ser) n.14393A>T | COSMIC |
| 5 | g.90791207C>A | CA360401695 | ADGRV1 | c.14378C>A (p.Thr4793Lys) c.3332C>A (p.Thr1111Lys) c.53C>A (p.Thr18Lys) n.1645C>A n.144C>A c.1007C>A (p.Thr336Lys) c.265+114998C>A (n.265+114998C>A) c.788C>A (p.Thr263Lys) c.1361C>A (p.Thr454Lys) n.53C>A n.14391C>A c.14375C>A (p.Thr4792Lys) c.14297C>A (p.Thr4766Lys) c.11681C>A (p.Thr3894Lys) c.14399C>A (p.Thr4800Lys) c.14396C>A (p.Thr4799Lys) c.14318C>A (p.Thr4773Lys) c.14303C>A (p.Thr4768Lys) c.7517C>A (p.Thr2506Lys) c.7496C>A (p.Thr2499Lys) n.14394C>A | |
| 5 | g.90791207C>G | CA360401697 | ADGRV1 | c.14378C>G (p.Thr4793Arg) c.3332C>G (p.Thr1111Arg) c.53C>G (p.Thr18Arg) n.1645C>G n.144C>G c.1007C>G (p.Thr336Arg) c.265+114998C>G (n.265+114998C>G) c.788C>G (p.Thr263Arg) c.1361C>G (p.Thr454Arg) n.53C>G n.14391C>G c.14375C>G (p.Thr4792Arg) c.14297C>G (p.Thr4766Arg) c.11681C>G (p.Thr3894Arg) c.14399C>G (p.Thr4800Arg) c.14396C>G (p.Thr4799Arg) c.14318C>G (p.Thr4773Arg) c.14303C>G (p.Thr4768Arg) c.7517C>G (p.Thr2506Arg) c.7496C>G (p.Thr2499Arg) n.14394C>G | |
| 5 | g.90791207C>T | CA360401698 | ADGRV1 | c.14378C>T (p.Thr4793Ile) c.3332C>T (p.Thr1111Ile) c.53C>T (p.Thr18Ile) n.1645C>T n.144C>T c.1007C>T (p.Thr336Ile) c.265+114998C>T (n.265+114998C>T) c.788C>T (p.Thr263Ile) c.1361C>T (p.Thr454Ile) n.53C>T n.14391C>T c.14375C>T (p.Thr4792Ile) c.14297C>T (p.Thr4766Ile) c.11681C>T (p.Thr3894Ile) c.14399C>T (p.Thr4800Ile) c.14396C>T (p.Thr4799Ile) c.14318C>T (p.Thr4773Ile) c.14303C>T (p.Thr4768Ile) c.7517C>T (p.Thr2506Ile) c.7496C>T (p.Thr2499Ile) n.14394C>T | |
| 5 | g.90791208A= | CA1562902286 | ADGRV1 | c.14379A= (p.Thr4793=) c.3333A= (p.Thr1111=) c.54A= (p.Thr18=) n.1646A= n.145A= c.1008A= (p.Thr336=) c.265+114999A= (n.265+114999A=) c.789A= (p.Thr263=) c.1362A= (p.Thr454=) n.54A= n.14392A= c.14376A= (p.Thr4792=) c.14298A= (p.Thr4766=) c.11682A= (p.Thr3894=) c.14400A= (p.Thr4800=) c.14397A= (p.Thr4799=) c.14319A= (p.Thr4773=) c.14304A= (p.Thr4768=) c.7518A= (p.Thr2506=) c.7497A= (p.Thr2499=) n.14395A= | |
| 5 | g.90791208A>C | CA445467614 | ADGRV1 | c.14379A>C (p.Thr4793=) c.3333A>C (p.Thr1111=) c.54A>C (p.Thr18=) n.1646A>C n.145A>C c.1008A>C (p.Thr336=) c.265+114999A>C (n.265+114999A>C) c.789A>C (p.Thr263=) c.1362A>C (p.Thr454=) n.54A>C n.14392A>C c.14376A>C (p.Thr4792=) c.14298A>C (p.Thr4766=) c.11682A>C (p.Thr3894=) c.14400A>C (p.Thr4800=) c.14397A>C (p.Thr4799=) c.14319A>C (p.Thr4773=) c.14304A>C (p.Thr4768=) c.7518A>C (p.Thr2506=) c.7497A>C (p.Thr2499=) n.14395A>C | |
| 5 | g.90791208A>G | CA3341716 | ADGRV1 | c.14379A>G (p.Thr4793=) c.3333A>G (p.Thr1111=) c.54A>G (p.Thr18=) n.1646A>G n.145A>G c.1008A>G (p.Thr336=) c.265+114999A>G (n.265+114999A>G) c.789A>G (p.Thr263=) c.1362A>G (p.Thr454=) n.54A>G n.14392A>G c.14376A>G (p.Thr4792=) c.14298A>G (p.Thr4766=) c.11682A>G (p.Thr3894=) c.14400A>G (p.Thr4800=) c.14397A>G (p.Thr4799=) c.14319A>G (p.Thr4773=) c.14304A>G (p.Thr4768=) c.7518A>G (p.Thr2506=) c.7497A>G (p.Thr2499=) n.14395A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90791208A>T | CA445467613 | ADGRV1 | c.14379A>T (p.Thr4793=) c.3333A>T (p.Thr1111=) c.54A>T (p.Thr18=) n.1646A>T n.145A>T c.1008A>T (p.Thr336=) c.265+114999A>T (n.265+114999A>T) c.789A>T (p.Thr263=) c.1362A>T (p.Thr454=) n.54A>T n.14392A>T c.14376A>T (p.Thr4792=) c.14298A>T (p.Thr4766=) c.11682A>T (p.Thr3894=) c.14400A>T (p.Thr4800=) c.14397A>T (p.Thr4799=) c.14319A>T (p.Thr4773=) c.14304A>T (p.Thr4768=) c.7518A>T (p.Thr2506=) c.7497A>T (p.Thr2499=) n.14395A>T | |
| 5 | g.90791209T>A | CA360401702 | ADGRV1 | c.14380T>A (p.Phe4794Ile) c.3334T>A (p.Phe1112Ile) c.55T>A (p.Phe19Ile) n.1647T>A n.146T>A c.1009T>A (p.Phe337Ile) c.265+115000T>A (n.265+115000T>A) c.790T>A (p.Phe264Ile) c.1363T>A (p.Phe455Ile) n.55T>A n.14393T>A c.14377T>A (p.Phe4793Ile) c.14299T>A (p.Phe4767Ile) c.11683T>A (p.Phe3895Ile) c.14401T>A (p.Phe4801Ile) c.14398T>A (p.Phe4800Ile) c.14320T>A (p.Phe4774Ile) c.14305T>A (p.Phe4769Ile) c.7519T>A (p.Phe2507Ile) c.7498T>A (p.Phe2500Ile) n.14396T>A | |
| 5 | g.90791209T>C | CA360401705 | ADGRV1 | c.14380T>C (p.Phe4794Leu) c.3334T>C (p.Phe1112Leu) c.55T>C (p.Phe19Leu) n.1647T>C n.146T>C c.1009T>C (p.Phe337Leu) c.265+115000T>C (n.265+115000T>C) c.790T>C (p.Phe264Leu) c.1363T>C (p.Phe455Leu) n.55T>C n.14393T>C c.14377T>C (p.Phe4793Leu) c.14299T>C (p.Phe4767Leu) c.11683T>C (p.Phe3895Leu) c.14401T>C (p.Phe4801Leu) c.14398T>C (p.Phe4800Leu) c.14320T>C (p.Phe4774Leu) c.14305T>C (p.Phe4769Leu) c.7519T>C (p.Phe2507Leu) c.7498T>C (p.Phe2500Leu) n.14396T>C | gnomAD v4 |
| 5 | g.90791209T>G | CA360401703 | ADGRV1 | c.14380T>G (p.Phe4794Val) c.3334T>G (p.Phe1112Val) c.55T>G (p.Phe19Val) n.1647T>G n.146T>G c.1009T>G (p.Phe337Val) c.265+115000T>G (n.265+115000T>G) c.790T>G (p.Phe264Val) c.1363T>G (p.Phe455Val) n.55T>G n.14393T>G c.14377T>G (p.Phe4793Val) c.14299T>G (p.Phe4767Val) c.11683T>G (p.Phe3895Val) c.14401T>G (p.Phe4801Val) c.14398T>G (p.Phe4800Val) c.14320T>G (p.Phe4774Val) c.14305T>G (p.Phe4769Val) c.7519T>G (p.Phe2507Val) c.7498T>G (p.Phe2500Val) n.14396T>G | |
| 5 | g.90791210T>A | CA360401707 | ADGRV1 | c.14381T>A (p.Phe4794Tyr) c.3335T>A (p.Phe1112Tyr) c.56T>A (p.Phe19Tyr) n.1648T>A n.147T>A c.1010T>A (p.Phe337Tyr) c.265+115001T>A (n.265+115001T>A) c.791T>A (p.Phe264Tyr) c.1364T>A (p.Phe455Tyr) n.56T>A n.14394T>A c.14378T>A (p.Phe4793Tyr) c.14300T>A (p.Phe4767Tyr) c.11684T>A (p.Phe3895Tyr) c.14402T>A (p.Phe4801Tyr) c.14399T>A (p.Phe4800Tyr) c.14321T>A (p.Phe4774Tyr) c.14306T>A (p.Phe4769Tyr) c.7520T>A (p.Phe2507Tyr) c.7499T>A (p.Phe2500Tyr) n.14397T>A | dbSNP |
| 5 | g.90791210T>C | CA360401709 | ADGRV1 | c.14381T>C (p.Phe4794Ser) c.3335T>C (p.Phe1112Ser) c.56T>C (p.Phe19Ser) n.1648T>C n.147T>C c.1010T>C (p.Phe337Ser) c.265+115001T>C (n.265+115001T>C) c.791T>C (p.Phe264Ser) c.1364T>C (p.Phe455Ser) n.56T>C n.14394T>C c.14378T>C (p.Phe4793Ser) c.14300T>C (p.Phe4767Ser) c.11684T>C (p.Phe3895Ser) c.14402T>C (p.Phe4801Ser) c.14399T>C (p.Phe4800Ser) c.14321T>C (p.Phe4774Ser) c.14306T>C (p.Phe4769Ser) c.7520T>C (p.Phe2507Ser) c.7499T>C (p.Phe2500Ser) n.14397T>C | |
| 5 | g.90791210T>G | CA360401710 | ADGRV1 | c.14381T>G (p.Phe4794Cys) c.3335T>G (p.Phe1112Cys) c.56T>G (p.Phe19Cys) n.1648T>G n.147T>G c.1010T>G (p.Phe337Cys) c.265+115001T>G (n.265+115001T>G) c.791T>G (p.Phe264Cys) c.1364T>G (p.Phe455Cys) n.56T>G n.14394T>G c.14378T>G (p.Phe4793Cys) c.14300T>G (p.Phe4767Cys) c.11684T>G (p.Phe3895Cys) c.14402T>G (p.Phe4801Cys) c.14399T>G (p.Phe4800Cys) c.14321T>G (p.Phe4774Cys) c.14306T>G (p.Phe4769Cys) c.7520T>G (p.Phe2507Cys) c.7499T>G (p.Phe2500Cys) n.14397T>G | |
| 5 | g.90791210T= | CA1562902287 | ADGRV1 | c.14381T= (p.Phe4794=) c.3335T= (p.Phe1112=) c.56T= (p.Phe19=) n.1648T= n.147T= c.1010T= (p.Phe337=) c.265+115001T= (n.265+115001T=) c.791T= (p.Phe264=) c.1364T= (p.Phe455=) n.56T= n.14394T= c.14378T= (p.Phe4793=) c.14300T= (p.Phe4767=) c.11684T= (p.Phe3895=) c.14402T= (p.Phe4801=) c.14399T= (p.Phe4800=) c.14321T= (p.Phe4774=) c.14306T= (p.Phe4769=) c.7520T= (p.Phe2507=) c.7499T= (p.Phe2500=) n.14397T= | |
| 5 | g.90791211T>A | CA360401713 | ADGRV1 | c.14382T>A (p.Phe4794Leu) c.3336T>A (p.Phe1112Leu) c.57T>A (p.Phe19Leu) n.1649T>A n.148T>A c.1011T>A (p.Phe337Leu) c.265+115002T>A (n.265+115002T>A) c.792T>A (p.Phe264Leu) c.1365T>A (p.Phe455Leu) n.57T>A n.14395T>A c.14379T>A (p.Phe4793Leu) c.14301T>A (p.Phe4767Leu) c.11685T>A (p.Phe3895Leu) c.14403T>A (p.Phe4801Leu) c.14400T>A (p.Phe4800Leu) c.14322T>A (p.Phe4774Leu) c.14307T>A (p.Phe4769Leu) c.7521T>A (p.Phe2507Leu) c.7500T>A (p.Phe2500Leu) n.14398T>A | |
| 5 | g.90791211T>C | CA445467615 | ADGRV1 | c.14382T>C (p.Phe4794=) c.3336T>C (p.Phe1112=) c.57T>C (p.Phe19=) n.1649T>C n.148T>C c.1011T>C (p.Phe337=) c.265+115002T>C (n.265+115002T>C) c.792T>C (p.Phe264=) c.1365T>C (p.Phe455=) n.57T>C n.14395T>C c.14379T>C (p.Phe4793=) c.14301T>C (p.Phe4767=) c.11685T>C (p.Phe3895=) c.14403T>C (p.Phe4801=) c.14400T>C (p.Phe4800=) c.14322T>C (p.Phe4774=) c.14307T>C (p.Phe4769=) c.7521T>C (p.Phe2507=) c.7500T>C (p.Phe2500=) n.14398T>C | |
| 5 | g.90791211T>G | CA360401714 | ADGRV1 | c.14382T>G (p.Phe4794Leu) c.3336T>G (p.Phe1112Leu) c.57T>G (p.Phe19Leu) n.1649T>G n.148T>G c.1011T>G (p.Phe337Leu) c.265+115002T>G (n.265+115002T>G) c.792T>G (p.Phe264Leu) c.1365T>G (p.Phe455Leu) n.57T>G n.14395T>G c.14379T>G (p.Phe4793Leu) c.14301T>G (p.Phe4767Leu) c.11685T>G (p.Phe3895Leu) c.14403T>G (p.Phe4801Leu) c.14400T>G (p.Phe4800Leu) c.14322T>G (p.Phe4774Leu) c.14307T>G (p.Phe4769Leu) c.7521T>G (p.Phe2507Leu) c.7500T>G (p.Phe2500Leu) n.14398T>G | |
| 5 | g.90791212G>A | CA360401718 | ADGRV1 | c.14383G>A (p.Gly4795Arg) c.3337G>A (p.Gly1113Arg) c.58G>A (p.Gly20Arg) n.1650G>A n.149G>A c.1012G>A (p.Gly338Arg) c.265+115003G>A (n.265+115003G>A) c.793G>A (p.Gly265Arg) c.1366G>A (p.Gly456Arg) n.58G>A n.14396G>A c.14380G>A (p.Gly4794Arg) c.14302G>A (p.Gly4768Arg) c.11686G>A (p.Gly3896Arg) c.14404G>A (p.Gly4802Arg) c.14401G>A (p.Gly4801Arg) c.14323G>A (p.Gly4775Arg) c.14308G>A (p.Gly4770Arg) c.7522G>A (p.Gly2508Arg) c.7501G>A (p.Gly2501Arg) n.14399G>A | |
| 5 | g.90791212G>C | CA360401719 | ADGRV1 | c.14383G>C (p.Gly4795Arg) c.3337G>C (p.Gly1113Arg) c.58G>C (p.Gly20Arg) n.1650G>C n.149G>C c.1012G>C (p.Gly338Arg) c.265+115003G>C (n.265+115003G>C) c.793G>C (p.Gly265Arg) c.1366G>C (p.Gly456Arg) n.58G>C n.14396G>C c.14380G>C (p.Gly4794Arg) c.14302G>C (p.Gly4768Arg) c.11686G>C (p.Gly3896Arg) c.14404G>C (p.Gly4802Arg) c.14401G>C (p.Gly4801Arg) c.14323G>C (p.Gly4775Arg) c.14308G>C (p.Gly4770Arg) c.7522G>C (p.Gly2508Arg) c.7501G>C (p.Gly2501Arg) n.14399G>C | |
| 5 | g.90791212G>T | CA360401720 | ADGRV1 | c.14383G>T (p.Gly4795Ter) c.3337G>T (p.Gly1113Ter) c.58G>T (p.Gly20Ter) n.1650G>T n.149G>T c.1012G>T (p.Gly338Ter) c.265+115003G>T (n.265+115003G>T) c.793G>T (p.Gly265Ter) c.1366G>T (p.Gly456Ter) n.58G>T n.14396G>T c.14380G>T (p.Gly4794Ter) c.14302G>T (p.Gly4768Ter) c.11686G>T (p.Gly3896Ter) c.14404G>T (p.Gly4802Ter) c.14401G>T (p.Gly4801Ter) c.14323G>T (p.Gly4775Ter) c.14308G>T (p.Gly4770Ter) c.7522G>T (p.Gly2508Ter) c.7501G>T (p.Gly2501Ter) n.14399G>T | |
| 5 | g.90791213G>A | CA360401723 | ADGRV1 | c.14384G>A (p.Gly4795Glu) c.3338G>A (p.Gly1113Glu) c.59G>A (p.Gly20Glu) n.1651G>A n.150G>A c.1013G>A (p.Gly338Glu) c.265+115004G>A (n.265+115004G>A) c.794G>A (p.Gly265Glu) c.1367G>A (p.Gly456Glu) n.59G>A n.14397G>A c.14381G>A (p.Gly4794Glu) c.14303G>A (p.Gly4768Glu) c.11687G>A (p.Gly3896Glu) c.14405G>A (p.Gly4802Glu) c.14402G>A (p.Gly4801Glu) c.14324G>A (p.Gly4775Glu) c.14309G>A (p.Gly4770Glu) c.7523G>A (p.Gly2508Glu) c.7502G>A (p.Gly2501Glu) n.14400G>A | |
| 5 | g.90791213G>C | CA360401724 | ADGRV1 | c.14384G>C (p.Gly4795Ala) c.3338G>C (p.Gly1113Ala) c.59G>C (p.Gly20Ala) n.1651G>C n.150G>C c.1013G>C (p.Gly338Ala) c.265+115004G>C (n.265+115004G>C) c.794G>C (p.Gly265Ala) c.1367G>C (p.Gly456Ala) n.59G>C n.14397G>C c.14381G>C (p.Gly4794Ala) c.14303G>C (p.Gly4768Ala) c.11687G>C (p.Gly3896Ala) c.14405G>C (p.Gly4802Ala) c.14402G>C (p.Gly4801Ala) c.14324G>C (p.Gly4775Ala) c.14309G>C (p.Gly4770Ala) c.7523G>C (p.Gly2508Ala) c.7502G>C (p.Gly2501Ala) n.14400G>C | |
| 5 | g.90791213G>T | CA360401725 | ADGRV1 | c.14384G>T (p.Gly4795Val) c.3338G>T (p.Gly1113Val) c.59G>T (p.Gly20Val) n.1651G>T n.150G>T c.1013G>T (p.Gly338Val) c.265+115004G>T (n.265+115004G>T) c.794G>T (p.Gly265Val) c.1367G>T (p.Gly456Val) n.59G>T n.14397G>T c.14381G>T (p.Gly4794Val) c.14303G>T (p.Gly4768Val) c.11687G>T (p.Gly3896Val) c.14405G>T (p.Gly4802Val) c.14402G>T (p.Gly4801Val) c.14324G>T (p.Gly4775Val) c.14309G>T (p.Gly4770Val) c.7523G>T (p.Gly2508Val) c.7502G>T (p.Gly2501Val) n.14400G>T | |
| 5 | g.90791214A>C | CA445467616 | ADGRV1 | c.14385A>C (p.Gly4795=) c.3339A>C (p.Gly1113=) c.60A>C (p.Gly20=) n.1652A>C n.151A>C c.1014A>C (p.Gly338=) c.265+115005A>C (n.265+115005A>C) c.795A>C (p.Gly265=) c.1368A>C (p.Gly456=) n.60A>C n.14398A>C c.14382A>C (p.Gly4794=) c.14304A>C (p.Gly4768=) c.11688A>C (p.Gly3896=) c.14406A>C (p.Gly4802=) c.14403A>C (p.Gly4801=) c.14325A>C (p.Gly4775=) c.14310A>C (p.Gly4770=) c.7524A>C (p.Gly2508=) c.7503A>C (p.Gly2501=) n.14401A>C | |
| 5 | g.90791214A>G | CA445467618 | ADGRV1 | c.14385A>G (p.Gly4795=) c.3339A>G (p.Gly1113=) c.60A>G (p.Gly20=) n.1652A>G n.151A>G c.1014A>G (p.Gly338=) c.265+115005A>G (n.265+115005A>G) c.795A>G (p.Gly265=) c.1368A>G (p.Gly456=) n.60A>G n.14398A>G c.14382A>G (p.Gly4794=) c.14304A>G (p.Gly4768=) c.11688A>G (p.Gly3896=) c.14406A>G (p.Gly4802=) c.14403A>G (p.Gly4801=) c.14325A>G (p.Gly4775=) c.14310A>G (p.Gly4770=) c.7524A>G (p.Gly2508=) c.7503A>G (p.Gly2501=) n.14401A>G | gnomAD v4 |
| 5 | g.90791214A>T | CA445467617 | ADGRV1 | c.14385A>T (p.Gly4795=) c.3339A>T (p.Gly1113=) c.60A>T (p.Gly20=) n.1652A>T n.151A>T c.1014A>T (p.Gly338=) c.265+115005A>T (n.265+115005A>T) c.795A>T (p.Gly265=) c.1368A>T (p.Gly456=) n.60A>T n.14398A>T c.14382A>T (p.Gly4794=) c.14304A>T (p.Gly4768=) c.11688A>T (p.Gly3896=) c.14406A>T (p.Gly4802=) c.14403A>T (p.Gly4801=) c.14325A>T (p.Gly4775=) c.14310A>T (p.Gly4770=) c.7524A>T (p.Gly2508=) c.7503A>T (p.Gly2501=) n.14401A>T | |
| 5 | g.90791215G>A | CA360401728 | ADGRV1 | c.14386G>A (p.Asp4796Asn) c.3340G>A (p.Asp1114Asn) c.61G>A (p.Asp21Asn) n.1653G>A n.152G>A c.1015G>A (p.Asp339Asn) c.265+115006G>A (n.265+115006G>A) c.796G>A (p.Asp266Asn) c.1369G>A (p.Asp457Asn) n.61G>A n.14399G>A c.14383G>A (p.Asp4795Asn) c.14305G>A (p.Asp4769Asn) c.11689G>A (p.Asp3897Asn) c.14407G>A (p.Asp4803Asn) c.14404G>A (p.Asp4802Asn) c.14326G>A (p.Asp4776Asn) c.14311G>A (p.Asp4771Asn) c.7525G>A (p.Asp2509Asn) c.7504G>A (p.Asp2502Asn) n.14402G>A | |
| 5 | g.90791215G>C | CA360401729 | ADGRV1 | c.14386G>C (p.Asp4796His) c.3340G>C (p.Asp1114His) c.61G>C (p.Asp21His) n.1653G>C n.152G>C c.1015G>C (p.Asp339His) c.265+115006G>C (n.265+115006G>C) c.796G>C (p.Asp266His) c.1369G>C (p.Asp457His) n.61G>C n.14399G>C c.14383G>C (p.Asp4795His) c.14305G>C (p.Asp4769His) c.11689G>C (p.Asp3897His) c.14407G>C (p.Asp4803His) c.14404G>C (p.Asp4802His) c.14326G>C (p.Asp4776His) c.14311G>C (p.Asp4771His) c.7525G>C (p.Asp2509His) c.7504G>C (p.Asp2502His) n.14402G>C | |
| 5 | g.90791215G>T | CA360401727 | ADGRV1 | c.14386G>T (p.Asp4796Tyr) c.3340G>T (p.Asp1114Tyr) c.61G>T (p.Asp21Tyr) n.1653G>T n.152G>T c.1015G>T (p.Asp339Tyr) c.265+115006G>T (n.265+115006G>T) c.796G>T (p.Asp266Tyr) c.1369G>T (p.Asp457Tyr) n.61G>T n.14399G>T c.14383G>T (p.Asp4795Tyr) c.14305G>T (p.Asp4769Tyr) c.11689G>T (p.Asp3897Tyr) c.14407G>T (p.Asp4803Tyr) c.14404G>T (p.Asp4802Tyr) c.14326G>T (p.Asp4776Tyr) c.14311G>T (p.Asp4771Tyr) c.7525G>T (p.Asp2509Tyr) c.7504G>T (p.Asp2502Tyr) n.14402G>T | |
| 5 | g.90791216A>C | CA360401730 | ADGRV1 | c.14387A>C (p.Asp4796Ala) c.3341A>C (p.Asp1114Ala) c.62A>C (p.Asp21Ala) n.1654A>C n.153A>C c.1016A>C (p.Asp339Ala) c.265+115007A>C (n.265+115007A>C) c.797A>C (p.Asp266Ala) c.1370A>C (p.Asp457Ala) n.62A>C n.14400A>C c.14384A>C (p.Asp4795Ala) c.14306A>C (p.Asp4769Ala) c.11690A>C (p.Asp3897Ala) c.14408A>C (p.Asp4803Ala) c.14405A>C (p.Asp4802Ala) c.14327A>C (p.Asp4776Ala) c.14312A>C (p.Asp4771Ala) c.7526A>C (p.Asp2509Ala) c.7505A>C (p.Asp2502Ala) n.14403A>C | |
| 5 | g.90791216A>G | CA360401732 | ADGRV1 | c.14387A>G (p.Asp4796Gly) c.3341A>G (p.Asp1114Gly) c.62A>G (p.Asp21Gly) n.1654A>G n.153A>G c.1016A>G (p.Asp339Gly) c.265+115007A>G (n.265+115007A>G) c.797A>G (p.Asp266Gly) c.1370A>G (p.Asp457Gly) n.62A>G n.14400A>G c.14384A>G (p.Asp4795Gly) c.14306A>G (p.Asp4769Gly) c.11690A>G (p.Asp3897Gly) c.14408A>G (p.Asp4803Gly) c.14405A>G (p.Asp4802Gly) c.14327A>G (p.Asp4776Gly) c.14312A>G (p.Asp4771Gly) c.7526A>G (p.Asp2509Gly) c.7505A>G (p.Asp2502Gly) n.14403A>G | |
| 5 | g.90791216A>T | CA360401733 | ADGRV1 | c.14387A>T (p.Asp4796Val) c.3341A>T (p.Asp1114Val) c.62A>T (p.Asp21Val) n.1654A>T n.153A>T c.1016A>T (p.Asp339Val) c.265+115007A>T (n.265+115007A>T) c.797A>T (p.Asp266Val) c.1370A>T (p.Asp457Val) n.62A>T n.14400A>T c.14384A>T (p.Asp4795Val) c.14306A>T (p.Asp4769Val) c.11690A>T (p.Asp3897Val) c.14408A>T (p.Asp4803Val) c.14405A>T (p.Asp4802Val) c.14327A>T (p.Asp4776Val) c.14312A>T (p.Asp4771Val) c.7526A>T (p.Asp2509Val) c.7505A>T (p.Asp2502Val) n.14403A>T | |
| 5 | g.90791216dup | CA2674571945 | ADGRV1 | c.14387dup (p.Asp4796GlufsTer13) c.3341dup (p.Asp1114GlufsTer13) c.62dup (p.Asp21GlufsTer13) n.1654dup n.153dup c.1016dup (p.Asp339GlufsTer13) c.265+115007dup (n.265+115007dup) c.797dup (p.Asp266GlufsTer13) c.1370dup (p.Asp457GlufsTer13) n.62dup n.14400dup c.14384dup (p.Asp4795GlufsTer13) c.14306dup (p.Asp4769GlufsTer13) c.11690dup (p.Asp3897GlufsTer13) c.14408dup (p.Asp4803GlufsTer13) c.14405dup (p.Asp4802GlufsTer13) c.14327dup (p.Asp4776GlufsTer13) c.14312dup (p.Asp4771GlufsTer13) c.7526dup (p.Asp2509GlufsTer13) c.7505dup (p.Asp2502GlufsTer13) n.14403dup | gnomAD v4 |
| 5 | g.90791217T>A | CA360401736 | ADGRV1 | c.14388T>A (p.Asp4796Glu) c.3342T>A (p.Asp1114Glu) c.63T>A (p.Asp21Glu) n.1655T>A n.154T>A c.1017T>A (p.Asp339Glu) c.265+115008T>A (n.265+115008T>A) c.798T>A (p.Asp266Glu) c.1371T>A (p.Asp457Glu) n.63T>A n.14401T>A c.14385T>A (p.Asp4795Glu) c.14307T>A (p.Asp4769Glu) c.11691T>A (p.Asp3897Glu) c.14409T>A (p.Asp4803Glu) c.14406T>A (p.Asp4802Glu) c.14328T>A (p.Asp4776Glu) c.14313T>A (p.Asp4771Glu) c.7527T>A (p.Asp2509Glu) c.7506T>A (p.Asp2502Glu) n.14404T>A | |
| 5 | g.90791217T>C | CA445467619 | ADGRV1 | c.14388T>C (p.Asp4796=) c.3342T>C (p.Asp1114=) c.63T>C (p.Asp21=) n.1655T>C n.154T>C c.1017T>C (p.Asp339=) c.265+115008T>C (n.265+115008T>C) c.798T>C (p.Asp266=) c.1371T>C (p.Asp457=) n.63T>C n.14401T>C c.14385T>C (p.Asp4795=) c.14307T>C (p.Asp4769=) c.11691T>C (p.Asp3897=) c.14409T>C (p.Asp4803=) c.14406T>C (p.Asp4802=) c.14328T>C (p.Asp4776=) c.14313T>C (p.Asp4771=) c.7527T>C (p.Asp2509=) c.7506T>C (p.Asp2502=) n.14404T>C | |
| 5 | g.90791217T>G | CA360401737 | ADGRV1 | c.14388T>G (p.Asp4796Glu) c.3342T>G (p.Asp1114Glu) c.63T>G (p.Asp21Glu) n.1655T>G n.154T>G c.1017T>G (p.Asp339Glu) c.265+115008T>G (n.265+115008T>G) c.798T>G (p.Asp266Glu) c.1371T>G (p.Asp457Glu) n.63T>G n.14401T>G c.14385T>G (p.Asp4795Glu) c.14307T>G (p.Asp4769Glu) c.11691T>G (p.Asp3897Glu) c.14409T>G (p.Asp4803Glu) c.14406T>G (p.Asp4802Glu) c.14328T>G (p.Asp4776Glu) c.14313T>G (p.Asp4771Glu) c.7527T>G (p.Asp2509Glu) c.7506T>G (p.Asp2502Glu) n.14404T>G | |
| 5 | g.90791218G>A | CA360401742 | ADGRV1 | c.14389G>A (p.Val4797Met) c.3343G>A (p.Val1115Met) c.64G>A (p.Val22Met) n.1656G>A n.155G>A c.1018G>A (p.Val340Met) c.265+115009G>A (n.265+115009G>A) c.799G>A (p.Val267Met) c.1372G>A (p.Val458Met) n.64G>A n.14402G>A c.14386G>A (p.Val4796Met) c.14308G>A (p.Val4770Met) c.11692G>A (p.Val3898Met) c.14410G>A (p.Val4804Met) c.14407G>A (p.Val4803Met) c.14329G>A (p.Val4777Met) c.14314G>A (p.Val4772Met) c.7528G>A (p.Val2510Met) c.7507G>A (p.Val2503Met) n.14405G>A | |
| 5 | g.90791218G>C | CA360401741 | ADGRV1 | c.14389G>C (p.Val4797Leu) c.3343G>C (p.Val1115Leu) c.64G>C (p.Val22Leu) n.1656G>C n.155G>C c.1018G>C (p.Val340Leu) c.265+115009G>C (n.265+115009G>C) c.799G>C (p.Val267Leu) c.1372G>C (p.Val458Leu) n.64G>C n.14402G>C c.14386G>C (p.Val4796Leu) c.14308G>C (p.Val4770Leu) c.11692G>C (p.Val3898Leu) c.14410G>C (p.Val4804Leu) c.14407G>C (p.Val4803Leu) c.14329G>C (p.Val4777Leu) c.14314G>C (p.Val4772Leu) c.7528G>C (p.Val2510Leu) c.7507G>C (p.Val2503Leu) n.14405G>C | |
| 5 | g.90791218G>T | CA360401739 | ADGRV1 | c.14389G>T (p.Val4797Leu) c.3343G>T (p.Val1115Leu) c.64G>T (p.Val22Leu) n.1656G>T n.155G>T c.1018G>T (p.Val340Leu) c.265+115009G>T (n.265+115009G>T) c.799G>T (p.Val267Leu) c.1372G>T (p.Val458Leu) n.64G>T n.14402G>T c.14386G>T (p.Val4796Leu) c.14308G>T (p.Val4770Leu) c.11692G>T (p.Val3898Leu) c.14410G>T (p.Val4804Leu) c.14407G>T (p.Val4803Leu) c.14329G>T (p.Val4777Leu) c.14314G>T (p.Val4772Leu) c.7528G>T (p.Val2510Leu) c.7507G>T (p.Val2503Leu) n.14405G>T |