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.90683971C>A | CA360414021 | ADGRV1 | c.6050C>A (p.Thr2017Lys) c.265+7762C>A (n.265+7762C>A) n.1509C>A c.165-1809C>A c.3341C>A (p.Thr1114Lys) c.862C>A n.6146C>A c.6047C>A (p.Thr2016Lys) c.5969C>A (p.Thr1990Lys) c.3353C>A (p.Thr1118Lys) c.5954C>A (p.Thr1985Lys) c.-750C>A (n.-750C>A) n.6149C>A | |
| 5 | g.90683971C>G | CA360414022 | ADGRV1 | c.6050C>G (p.Thr2017Arg) c.265+7762C>G (n.265+7762C>G) n.1509C>G c.165-1809C>G c.3341C>G (p.Thr1114Arg) c.862C>G n.6146C>G c.6047C>G (p.Thr2016Arg) c.5969C>G (p.Thr1990Arg) c.3353C>G (p.Thr1118Arg) c.5954C>G (p.Thr1985Arg) c.-750C>G (n.-750C>G) n.6149C>G | |
| 5 | g.90683971C>T | CA360414020 | ADGRV1 | c.6050C>T (p.Thr2017Ile) c.265+7762C>T (n.265+7762C>T) n.1509C>T c.165-1809C>T c.3341C>T (p.Thr1114Ile) c.862C>T n.6146C>T c.6047C>T (p.Thr2016Ile) c.5969C>T (p.Thr1990Ile) c.3353C>T (p.Thr1118Ile) c.5954C>T (p.Thr1985Ile) c.-750C>T (n.-750C>T) n.6149C>T | COSMIC |
| 5 | g.90683972A>C | CA445466930 | ADGRV1 | c.6051A>C (p.Thr2017=) c.265+7763A>C (n.265+7763A>C) n.1510A>C c.165-1808A>C c.3342A>C (p.Thr1114=) c.863A>C n.6147A>C c.6048A>C (p.Thr2016=) c.5970A>C (p.Thr1990=) c.3354A>C (p.Thr1118=) c.5955A>C (p.Thr1985=) c.-749A>C (n.-749A>C) n.6150A>C | |
| 5 | g.90683972A>G | CA445466931 | ADGRV1 | c.6051A>G (p.Thr2017=) c.265+7763A>G (n.265+7763A>G) n.1510A>G c.165-1808A>G c.3342A>G (p.Thr1114=) c.863A>G n.6147A>G c.6048A>G (p.Thr2016=) c.5970A>G (p.Thr1990=) c.3354A>G (p.Thr1118=) c.5955A>G (p.Thr1985=) c.-749A>G (n.-749A>G) n.6150A>G | |
| 5 | g.90683972A>T | CA445466932 | ADGRV1 | c.6051A>T (p.Thr2017=) c.265+7763A>T (n.265+7763A>T) n.1510A>T c.165-1808A>T c.3342A>T (p.Thr1114=) c.863A>T n.6147A>T c.6048A>T (p.Thr2016=) c.5970A>T (p.Thr1990=) c.3354A>T (p.Thr1118=) c.5955A>T (p.Thr1985=) c.-749A>T (n.-749A>T) n.6150A>T | |
| 5 | g.90683973C>A | CA360414023 | ADGRV1 | c.6052C>A (p.Leu2018Ile) c.265+7764C>A (n.265+7764C>A) n.1511C>A c.165-1807C>A c.3343C>A (p.Leu1115Ile) c.864C>A n.6148C>A c.6049C>A (p.Leu2017Ile) c.5971C>A (p.Leu1991Ile) c.3355C>A (p.Leu1119Ile) c.5956C>A (p.Leu1986Ile) c.-748C>A (n.-748C>A) n.6151C>A | |
| 5 | g.90683973C>G | CA360414024 | ADGRV1 | c.6052C>G (p.Leu2018Val) c.265+7764C>G (n.265+7764C>G) n.1511C>G c.165-1807C>G c.3343C>G (p.Leu1115Val) c.864C>G n.6148C>G c.6049C>G (p.Leu2017Val) c.5971C>G (p.Leu1991Val) c.3355C>G (p.Leu1119Val) c.5956C>G (p.Leu1986Val) c.-748C>G (n.-748C>G) n.6151C>G | |
| 5 | g.90683973C>T | CA445466934 | ADGRV1 | c.6052C>T (p.Leu2018=) c.265+7764C>T (n.265+7764C>T) n.1511C>T c.165-1807C>T c.3343C>T (p.Leu1115=) c.864C>T n.6148C>T c.6049C>T (p.Leu2017=) c.5971C>T (p.Leu1991=) c.3355C>T (p.Leu1119=) c.5956C>T (p.Leu1986=) c.-748C>T (n.-748C>T) n.6151C>T | |
| 5 | g.90683974T>A | CA360414025 | ADGRV1 | c.6053T>A (p.Leu2018Gln) c.265+7765T>A (n.265+7765T>A) n.1512T>A c.165-1806T>A c.3344T>A (p.Leu1115Gln) c.865T>A n.6149T>A c.6050T>A (p.Leu2017Gln) c.5972T>A (p.Leu1991Gln) c.3356T>A (p.Leu1119Gln) c.5957T>A (p.Leu1986Gln) c.-747T>A (n.-747T>A) n.6152T>A | |
| 5 | g.90683974T>C | CA360414026 | ADGRV1 | c.6053T>C (p.Leu2018Pro) c.265+7765T>C (n.265+7765T>C) n.1512T>C c.165-1806T>C c.3344T>C (p.Leu1115Pro) c.865T>C n.6149T>C c.6050T>C (p.Leu2017Pro) c.5972T>C (p.Leu1991Pro) c.3356T>C (p.Leu1119Pro) c.5957T>C (p.Leu1986Pro) c.-747T>C (n.-747T>C) n.6152T>C | |
| 5 | g.90683974T>G | CA360414027 | ADGRV1 | c.6053T>G (p.Leu2018Arg) c.265+7765T>G (n.265+7765T>G) n.1512T>G c.165-1806T>G c.3344T>G (p.Leu1115Arg) c.865T>G n.6149T>G c.6050T>G (p.Leu2017Arg) c.5972T>G (p.Leu1991Arg) c.3356T>G (p.Leu1119Arg) c.5957T>G (p.Leu1986Arg) c.-747T>G (n.-747T>G) n.6152T>G | |
| 5 | g.90683975A= | CA1562855113 | ADGRV1 | c.6054A= (p.Leu2018=) c.265+7766A= (n.265+7766A=) n.1513A= c.165-1805A= c.3345A= (p.Leu1115=) c.866A= n.6150A= c.6051A= (p.Leu2017=) c.5973A= (p.Leu1991=) c.3357A= (p.Leu1119=) c.5958A= (p.Leu1986=) c.-746A= (n.-746A=) n.6153A= | |
| 5 | g.90683975A>C | CA445466937 | ADGRV1 | c.6054A>C (p.Leu2018=) c.265+7766A>C (n.265+7766A>C) n.1513A>C c.165-1805A>C c.3345A>C (p.Leu1115=) c.866A>C n.6150A>C c.6051A>C (p.Leu2017=) c.5973A>C (p.Leu1991=) c.3357A>C (p.Leu1119=) c.5958A>C (p.Leu1986=) c.-746A>C (n.-746A>C) n.6153A>C | |
| 5 | g.90683975A>G | CA445466936 | ADGRV1 | c.6054A>G (p.Leu2018=) c.265+7766A>G (n.265+7766A>G) n.1513A>G c.165-1805A>G c.3345A>G (p.Leu1115=) c.866A>G n.6150A>G c.6051A>G (p.Leu2017=) c.5973A>G (p.Leu1991=) c.3357A>G (p.Leu1119=) c.5958A>G (p.Leu1986=) c.-746A>G (n.-746A>G) n.6153A>G | dbSNP |
| 5 | g.90683975A>T | CA445466935 | ADGRV1 | c.6054A>T (p.Leu2018=) c.265+7766A>T (n.265+7766A>T) n.1513A>T c.165-1805A>T c.3345A>T (p.Leu1115=) c.866A>T n.6150A>T c.6051A>T (p.Leu2017=) c.5973A>T (p.Leu1991=) c.3357A>T (p.Leu1119=) c.5958A>T (p.Leu1986=) c.-746A>T (n.-746A>T) n.6153A>T | |
| 5 | g.90683976G>A | CA3339701 | ADGRV1 | c.6055G>A (p.Asp2019Asn) c.265+7767G>A (n.265+7767G>A) n.1514G>A c.165-1804G>A c.3346G>A (p.Asp1116Asn) c.867G>A n.6151G>A c.6052G>A (p.Asp2018Asn) c.5974G>A (p.Asp1992Asn) c.3358G>A (p.Asp1120Asn) c.5959G>A (p.Asp1987Asn) c.-745G>A (n.-745G>A) n.6154G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90683976G>C | CA360414028 | ADGRV1 | c.6055G>C (p.Asp2019His) c.265+7767G>C (n.265+7767G>C) n.1514G>C c.165-1804G>C c.3346G>C (p.Asp1116His) c.867G>C n.6151G>C c.6052G>C (p.Asp2018His) c.5974G>C (p.Asp1992His) c.3358G>C (p.Asp1120His) c.5959G>C (p.Asp1987His) c.-745G>C (n.-745G>C) n.6154G>C | |
| 5 | g.90683976G= | CA1562855114 | ADGRV1 | c.6055G= (p.Asp2019=) c.265+7767G= (n.265+7767G=) n.1514G= c.165-1804G= c.3346G= (p.Asp1116=) c.867G= n.6151G= c.6052G= (p.Asp2018=) c.5974G= (p.Asp1992=) c.3358G= (p.Asp1120=) c.5959G= (p.Asp1987=) c.-745G= (n.-745G=) n.6154G= | |
| 5 | g.90683976G>T | CA360414029 | ADGRV1 | c.6055G>T (p.Asp2019Tyr) c.265+7767G>T (n.265+7767G>T) n.1514G>T c.165-1804G>T c.3346G>T (p.Asp1116Tyr) c.867G>T n.6151G>T c.6052G>T (p.Asp2018Tyr) c.5974G>T (p.Asp1992Tyr) c.3358G>T (p.Asp1120Tyr) c.5959G>T (p.Asp1987Tyr) c.-745G>T (n.-745G>T) n.6154G>T | |
| 5 | g.90683977A= | CA1562855115 | ADGRV1 | c.6056A= (p.Asp2019=) c.265+7768A= (n.265+7768A=) n.1515A= c.165-1803A= c.3347A= (p.Asp1116=) c.868A= n.6152A= c.6053A= (p.Asp2018=) c.5975A= (p.Asp1992=) c.3359A= (p.Asp1120=) c.5960A= (p.Asp1987=) c.-744A= (n.-744A=) n.6155A= | |
| 5 | g.90683977A>C | CA360414030 | ADGRV1 | c.6056A>C (p.Asp2019Ala) c.265+7768A>C (n.265+7768A>C) n.1515A>C c.165-1803A>C c.3347A>C (p.Asp1116Ala) c.868A>C n.6152A>C c.6053A>C (p.Asp2018Ala) c.5975A>C (p.Asp1992Ala) c.3359A>C (p.Asp1120Ala) c.5960A>C (p.Asp1987Ala) c.-744A>C (n.-744A>C) n.6155A>C | |
| 5 | g.90683977A>G | CA3339702 | ADGRV1 | c.6056A>G (p.Asp2019Gly) c.265+7768A>G (n.265+7768A>G) n.1515A>G c.165-1803A>G c.3347A>G (p.Asp1116Gly) c.868A>G n.6152A>G c.6053A>G (p.Asp2018Gly) c.5975A>G (p.Asp1992Gly) c.3359A>G (p.Asp1120Gly) c.5960A>G (p.Asp1987Gly) c.-744A>G (n.-744A>G) n.6155A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90683977A>T | CA360414031 | ADGRV1 | c.6056A>T (p.Asp2019Val) c.265+7768A>T (n.265+7768A>T) n.1515A>T c.165-1803A>T c.3347A>T (p.Asp1116Val) c.868A>T n.6152A>T c.6053A>T (p.Asp2018Val) c.5975A>T (p.Asp1992Val) c.3359A>T (p.Asp1120Val) c.5960A>T (p.Asp1987Val) c.-744A>T (n.-744A>T) n.6155A>T | |
| 5 | g.90683978T>A | CA360414032 | ADGRV1 | c.6057T>A (p.Asp2019Glu) c.265+7769T>A (n.265+7769T>A) n.1516T>A c.165-1802T>A c.3348T>A (p.Asp1116Glu) c.869T>A n.6153T>A c.6054T>A (p.Asp2018Glu) c.5976T>A (p.Asp1992Glu) c.3360T>A (p.Asp1120Glu) c.5961T>A (p.Asp1987Glu) c.-743T>A (n.-743T>A) n.6156T>A | |
| 5 | g.90683978T>C | CA445466942 | ADGRV1 | c.6057T>C (p.Asp2019=) c.265+7769T>C (n.265+7769T>C) n.1516T>C c.165-1802T>C c.3348T>C (p.Asp1116=) c.869T>C n.6153T>C c.6054T>C (p.Asp2018=) c.5976T>C (p.Asp1992=) c.3360T>C (p.Asp1120=) c.5961T>C (p.Asp1987=) c.-743T>C (n.-743T>C) n.6156T>C | |
| 5 | g.90683978T>G | CA360414033 | ADGRV1 | c.6057T>G (p.Asp2019Glu) c.265+7769T>G (n.265+7769T>G) n.1516T>G c.165-1802T>G c.3348T>G (p.Asp1116Glu) c.869T>G n.6153T>G c.6054T>G (p.Asp2018Glu) c.5976T>G (p.Asp1992Glu) c.3360T>G (p.Asp1120Glu) c.5961T>G (p.Asp1987Glu) c.-743T>G (n.-743T>G) n.6156T>G | |
| 5 | g.90683979G>A | CA360414036 | ADGRV1 | c.6058G>A (p.Asp2020Asn) c.265+7770G>A (n.265+7770G>A) n.1517G>A c.165-1801G>A c.3349G>A (p.Asp1117Asn) c.870G>A n.6154G>A c.6055G>A (p.Asp2019Asn) c.5977G>A (p.Asp1993Asn) c.3361G>A (p.Asp1121Asn) c.5962G>A (p.Asp1988Asn) c.-742G>A (n.-742G>A) n.6157G>A | COSMIC |
| 5 | g.90683979G>C | CA360414034 | ADGRV1 | c.6058G>C (p.Asp2020His) c.265+7770G>C (n.265+7770G>C) n.1517G>C c.165-1801G>C c.3349G>C (p.Asp1117His) c.870G>C n.6154G>C c.6055G>C (p.Asp2019His) c.5977G>C (p.Asp1993His) c.3361G>C (p.Asp1121His) c.5962G>C (p.Asp1988His) c.-742G>C (n.-742G>C) n.6157G>C | |
| 5 | g.90683979G= | CA1562855116 | ADGRV1 | c.6058G= (p.Asp2020=) c.265+7770G= (n.265+7770G=) n.1517G= c.165-1801G= c.3349G= (p.Asp1117=) c.870G= n.6154G= c.6055G= (p.Asp2019=) c.5977G= (p.Asp1993=) c.3361G= (p.Asp1121=) c.5962G= (p.Asp1988=) c.-742G= (n.-742G=) n.6157G= | |
| 5 | g.90683979G>T | CA360414035 | ADGRV1 | c.6058G>T (p.Asp2020Tyr) c.265+7770G>T (n.265+7770G>T) n.1517G>T c.165-1801G>T c.3349G>T (p.Asp1117Tyr) c.870G>T n.6154G>T c.6055G>T (p.Asp2019Tyr) c.5977G>T (p.Asp1993Tyr) c.3361G>T (p.Asp1121Tyr) c.5962G>T (p.Asp1988Tyr) c.-742G>T (n.-742G>T) n.6157G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.90683980A= | CA1562855117 | ADGRV1 | c.6059A= (p.Asp2020=) c.265+7771A= (n.265+7771A=) n.1518A= c.165-1800A= c.3350A= (p.Asp1117=) c.871A= n.6155A= c.6056A= (p.Asp2019=) c.5978A= (p.Asp1993=) c.3362A= (p.Asp1121=) c.5963A= (p.Asp1988=) c.-741A= (n.-741A=) n.6158A= | |
| 5 | g.90683980A>C | CA360414037 | ADGRV1 | c.6059A>C (p.Asp2020Ala) c.265+7771A>C (n.265+7771A>C) n.1518A>C c.165-1800A>C c.3350A>C (p.Asp1117Ala) c.871A>C n.6155A>C c.6056A>C (p.Asp2019Ala) c.5978A>C (p.Asp1993Ala) c.3362A>C (p.Asp1121Ala) c.5963A>C (p.Asp1988Ala) c.-741A>C (n.-741A>C) n.6158A>C | |
| 5 | g.90683980A>G | CA360414038 | ADGRV1 | c.6059A>G (p.Asp2020Gly) c.265+7771A>G (n.265+7771A>G) n.1518A>G c.165-1800A>G c.3350A>G (p.Asp1117Gly) c.871A>G n.6155A>G c.6056A>G (p.Asp2019Gly) c.5978A>G (p.Asp1993Gly) c.3362A>G (p.Asp1121Gly) c.5963A>G (p.Asp1988Gly) c.-741A>G (n.-741A>G) n.6158A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90683980A>T | CA360414039 | ADGRV1 | c.6059A>T (p.Asp2020Val) c.265+7771A>T (n.265+7771A>T) n.1518A>T c.165-1800A>T c.3350A>T (p.Asp1117Val) c.871A>T n.6155A>T c.6056A>T (p.Asp2019Val) c.5978A>T (p.Asp1993Val) c.3362A>T (p.Asp1121Val) c.5963A>T (p.Asp1988Val) c.-741A>T (n.-741A>T) n.6158A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90683981T>A | CA360414040 | ADGRV1 | c.6060T>A (p.Asp2020Glu) c.265+7772T>A (n.265+7772T>A) n.1519T>A c.165-1799T>A c.3351T>A (p.Asp1117Glu) c.872T>A n.6156T>A c.6057T>A (p.Asp2019Glu) c.5979T>A (p.Asp1993Glu) c.3363T>A (p.Asp1121Glu) c.5964T>A (p.Asp1988Glu) c.-740T>A (n.-740T>A) n.6159T>A | |
| 5 | g.90683981T>C | CA445466944 | ADGRV1 | c.6060T>C (p.Asp2020=) c.265+7772T>C (n.265+7772T>C) n.1519T>C c.165-1799T>C c.3351T>C (p.Asp1117=) c.872T>C n.6156T>C c.6057T>C (p.Asp2019=) c.5979T>C (p.Asp1993=) c.3363T>C (p.Asp1121=) c.5964T>C (p.Asp1988=) c.-740T>C (n.-740T>C) n.6159T>C | |
| 5 | g.90683981T>G | CA360414041 | ADGRV1 | c.6060T>G (p.Asp2020Glu) c.265+7772T>G (n.265+7772T>G) n.1519T>G c.165-1799T>G c.3351T>G (p.Asp1117Glu) c.872T>G n.6156T>G c.6057T>G (p.Asp2019Glu) c.5979T>G (p.Asp1993Glu) c.3363T>G (p.Asp1121Glu) c.5964T>G (p.Asp1988Glu) c.-740T>G (n.-740T>G) n.6159T>G | |
| 5 | g.90683982A>C | CA360414042 | ADGRV1 | c.6061A>C (p.Met2021Leu) c.265+7773A>C (n.265+7773A>C) n.1520A>C c.165-1798A>C c.3352A>C (p.Met1118Leu) c.873A>C n.6157A>C c.6058A>C (p.Met2020Leu) c.5980A>C (p.Met1994Leu) c.3364A>C (p.Met1122Leu) c.5965A>C (p.Met1989Leu) c.-739A>C (n.-739A>C) n.6160A>C | |
| 5 | g.90683982A>G | CA360414043 | ADGRV1 | c.6061A>G (p.Met2021Val) c.265+7773A>G (n.265+7773A>G) n.1520A>G c.165-1798A>G c.3352A>G (p.Met1118Val) c.873A>G n.6157A>G c.6058A>G (p.Met2020Val) c.5980A>G (p.Met1994Val) c.3364A>G (p.Met1122Val) c.5965A>G (p.Met1989Val) c.-739A>G (n.-739A>G) n.6160A>G | ClinVar gnomAD v4 |
| 5 | g.90683982A>T | CA360414044 | ADGRV1 | c.6061A>T (p.Met2021Leu) c.265+7773A>T (n.265+7773A>T) n.1520A>T c.165-1798A>T c.3352A>T (p.Met1118Leu) c.873A>T n.6157A>T c.6058A>T (p.Met2020Leu) c.5980A>T (p.Met1994Leu) c.3364A>T (p.Met1122Leu) c.5965A>T (p.Met1989Leu) c.-739A>T (n.-739A>T) n.6160A>T | |
| 5 | g.90683983T>A | CA360414045 | ADGRV1 | c.6062T>A (p.Met2021Lys) c.265+7774T>A (n.265+7774T>A) n.1521T>A c.165-1797T>A c.3353T>A (p.Met1118Lys) c.874T>A n.6158T>A c.6059T>A (p.Met2020Lys) c.5981T>A (p.Met1994Lys) c.3365T>A (p.Met1122Lys) c.5966T>A (p.Met1989Lys) c.-738T>A (n.-738T>A) n.6161T>A | |
| 5 | g.90683983T>C | CA360414046 | ADGRV1 | c.6062T>C (p.Met2021Thr) c.265+7774T>C (n.265+7774T>C) n.1521T>C c.165-1797T>C c.3353T>C (p.Met1118Thr) c.874T>C n.6158T>C c.6059T>C (p.Met2020Thr) c.5981T>C (p.Met1994Thr) c.3365T>C (p.Met1122Thr) c.5966T>C (p.Met1989Thr) c.-738T>C (n.-738T>C) n.6161T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90683983T>G | CA360414047 | ADGRV1 | c.6062T>G (p.Met2021Arg) c.265+7774T>G (n.265+7774T>G) n.1521T>G c.165-1797T>G c.3353T>G (p.Met1118Arg) c.874T>G n.6158T>G c.6059T>G (p.Met2020Arg) c.5981T>G (p.Met1994Arg) c.3365T>G (p.Met1122Arg) c.5966T>G (p.Met1989Arg) c.-738T>G (n.-738T>G) n.6161T>G | |
| 5 | g.90683983T= | CA1562855118 | ADGRV1 | c.6062T= (p.Met2021=) c.265+7774T= (n.265+7774T=) n.1521T= c.165-1797T= c.3353T= (p.Met1118=) c.874T= n.6158T= c.6059T= (p.Met2020=) c.5981T= (p.Met1994=) c.3365T= (p.Met1122=) c.5966T= (p.Met1989=) c.-738T= (n.-738T=) n.6161T= | |
| 5 | g.90683984G>A | CA360414049 | ADGRV1 | c.6063G>A (p.Met2021Ile) c.265+7775G>A (n.265+7775G>A) n.1522G>A c.165-1796G>A c.3354G>A (p.Met1118Ile) c.875G>A n.6159G>A c.6060G>A (p.Met2020Ile) c.5982G>A (p.Met1994Ile) c.3366G>A (p.Met1122Ile) c.5967G>A (p.Met1989Ile) c.-737G>A (n.-737G>A) n.6162G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90683984G>C | CA360414050 | ADGRV1 | c.6063G>C (p.Met2021Ile) c.265+7775G>C (n.265+7775G>C) n.1522G>C c.165-1796G>C c.3354G>C (p.Met1118Ile) c.875G>C n.6159G>C c.6060G>C (p.Met2020Ile) c.5982G>C (p.Met1994Ile) c.3366G>C (p.Met1122Ile) c.5967G>C (p.Met1989Ile) c.-737G>C (n.-737G>C) n.6162G>C | |
| 5 | g.90683984G= | CA1562855119 | ADGRV1 | c.6063G= (p.Met2021=) c.265+7775G= (n.265+7775G=) n.1522G= c.165-1796G= c.3354G= (p.Met1118=) c.875G= n.6159G= c.6060G= (p.Met2020=) c.5982G= (p.Met1994=) c.3366G= (p.Met1122=) c.5967G= (p.Met1989=) c.-737G= (n.-737G=) n.6162G= | |
| 5 | g.90683984G>T | CA360414048 | ADGRV1 | c.6063G>T (p.Met2021Ile) c.265+7775G>T (n.265+7775G>T) n.1522G>T c.165-1796G>T c.3354G>T (p.Met1118Ile) c.875G>T n.6159G>T c.6060G>T (p.Met2020Ile) c.5982G>T (p.Met1994Ile) c.3366G>T (p.Met1122Ile) c.5967G>T (p.Met1989Ile) c.-737G>T (n.-737G>T) n.6162G>T | gnomAD v4 |
| 5 | g.90683985G>A | CA360414051 | ADGRV1 | c.6064G>A (p.Glu2022Lys) c.265+7776G>A (n.265+7776G>A) n.1523G>A c.165-1795G>A c.3355G>A (p.Glu1119Lys) c.876G>A n.6160G>A c.6061G>A (p.Glu2021Lys) c.5983G>A (p.Glu1995Lys) c.3367G>A (p.Glu1123Lys) c.5968G>A (p.Glu1990Lys) c.-736G>A (n.-736G>A) n.6163G>A |