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.90683964_90683968delinsTATGC | CA1562855106 | ADGRV1 | c.6043_6047delinsTATGC (p.Tyr2015=) c.265+7755_265+7759delinsTATGC (n.265+7755_265+7759delinsTATGC) n.1502_1506delinsTATGC c.165-1816_165-1812delinsTATGC c.3334_3338delinsTATGC (p.Tyr1112=) c.855_859delinsTATGC n.6139_6143delinsTATGC c.6040_6044delinsTATGC (p.Tyr2014=) c.5962_5966delinsTATGC (p.Tyr1988=) c.3346_3350delinsTATGC (p.Tyr1116=) c.5947_5951delinsTATGC (p.Tyr1983=) c.-757_-753delinsTATGC (n.-757_-753delinsTATGC) n.6142_6146delinsTATGC | |
| 5 | g.90683966_90683969del | CA1562855108 | ADGRV1 | c.6045_6048del (p.Tyr2015Ter) c.265+7757_265+7760del (n.265+7757_265+7760del) n.1504_1507del c.165-1814_165-1811del c.3336_3339del (p.Tyr1112Ter) c.857_860del n.6141_6144del c.6042_6045del (p.Tyr2014Ter) c.5964_5967del (p.Tyr1988Ter) c.3348_3351del (p.Tyr1116Ter) c.5949_5952del (p.Tyr1983Ter) c.-755_-752del (n.-755_-752del) n.6144_6147del | dbSNP |
| 5 | g.90683967G>A | CA360414013 | ADGRV1 | c.6046G>A (p.Ala2016Thr) c.265+7758G>A (n.265+7758G>A) n.1505G>A c.165-1813G>A c.3337G>A (p.Ala1113Thr) c.858G>A n.6142G>A c.6043G>A (p.Ala2015Thr) c.5965G>A (p.Ala1989Thr) c.3349G>A (p.Ala1117Thr) c.5950G>A (p.Ala1984Thr) c.-754G>A (n.-754G>A) n.6145G>A | gnomAD v4 |
| 5 | g.90683967G>C | CA360414011 | ADGRV1 | c.6046G>C (p.Ala2016Pro) c.265+7758G>C (n.265+7758G>C) n.1505G>C c.165-1813G>C c.3337G>C (p.Ala1113Pro) c.858G>C n.6142G>C c.6043G>C (p.Ala2015Pro) c.5965G>C (p.Ala1989Pro) c.3349G>C (p.Ala1117Pro) c.5950G>C (p.Ala1984Pro) c.-754G>C (n.-754G>C) n.6145G>C | |
| 5 | g.90683967G>T | CA360414012 | ADGRV1 | c.6046G>T (p.Ala2016Ser) c.265+7758G>T (n.265+7758G>T) n.1505G>T c.165-1813G>T c.3337G>T (p.Ala1113Ser) c.858G>T n.6142G>T c.6043G>T (p.Ala2015Ser) c.5965G>T (p.Ala1989Ser) c.3349G>T (p.Ala1117Ser) c.5950G>T (p.Ala1984Ser) c.-754G>T (n.-754G>T) n.6145G>T | |
| 5 | g.90683968C>A | CA360414014 | ADGRV1 | c.6047C>A (p.Ala2016Glu) c.265+7759C>A (n.265+7759C>A) n.1506C>A c.165-1812C>A c.3338C>A (p.Ala1113Glu) c.859C>A n.6143C>A c.6044C>A (p.Ala2015Glu) c.5966C>A (p.Ala1989Glu) c.3350C>A (p.Ala1117Glu) c.5951C>A (p.Ala1984Glu) c.-753C>A (n.-753C>A) n.6146C>A | |
| 5 | g.90683968C= | CA1562855110 | ADGRV1 | c.6047C= (p.Ala2016=) c.265+7759C= (n.265+7759C=) n.1506C= c.165-1812C= c.3338C= (p.Ala1113=) c.859C= n.6143C= c.6044C= (p.Ala2015=) c.5966C= (p.Ala1989=) c.3350C= (p.Ala1117=) c.5951C= (p.Ala1984=) c.-753C= (n.-753C=) n.6146C= | |
| 5 | g.90683968C>G | CA360414015 | ADGRV1 | c.6047C>G (p.Ala2016Gly) c.265+7759C>G (n.265+7759C>G) n.1506C>G c.165-1812C>G c.3338C>G (p.Ala1113Gly) c.859C>G n.6143C>G c.6044C>G (p.Ala2015Gly) c.5966C>G (p.Ala1989Gly) c.3350C>G (p.Ala1117Gly) c.5951C>G (p.Ala1984Gly) c.-753C>G (n.-753C>G) n.6146C>G | dbSNP |
| 5 | g.90683968C>T | CA360414016 | ADGRV1 | c.6047C>T (p.Ala2016Val) c.265+7759C>T (n.265+7759C>T) n.1506C>T c.165-1812C>T c.3338C>T (p.Ala1113Val) c.859C>T n.6143C>T c.6044C>T (p.Ala2015Val) c.5966C>T (p.Ala1989Val) c.3350C>T (p.Ala1117Val) c.5951C>T (p.Ala1984Val) c.-753C>T (n.-753C>T) n.6146C>T | |
| 5 | g.90683969A= | CA1562855111 | ADGRV1 | c.6048A= (p.Ala2016=) c.265+7760A= (n.265+7760A=) n.1507A= c.165-1811A= c.3339A= (p.Ala1113=) c.860A= n.6144A= c.6045A= (p.Ala2015=) c.5967A= (p.Ala1989=) c.3351A= (p.Ala1117=) c.5952A= (p.Ala1984=) c.-752A= (n.-752A=) n.6147A= | |
| 5 | g.90683969A>C | CA445466925 | ADGRV1 | c.6048A>C (p.Ala2016=) c.265+7760A>C (n.265+7760A>C) n.1507A>C c.165-1811A>C c.3339A>C (p.Ala1113=) c.860A>C n.6144A>C c.6045A>C (p.Ala2015=) c.5967A>C (p.Ala1989=) c.3351A>C (p.Ala1117=) c.5952A>C (p.Ala1984=) c.-752A>C (n.-752A>C) n.6147A>C | |
| 5 | g.90683969A>G | CA445466927 | ADGRV1 | c.6048A>G (p.Ala2016=) c.265+7760A>G (n.265+7760A>G) n.1507A>G c.165-1811A>G c.3339A>G (p.Ala1113=) c.860A>G n.6144A>G c.6045A>G (p.Ala2015=) c.5967A>G (p.Ala1989=) c.3351A>G (p.Ala1117=) c.5952A>G (p.Ala1984=) c.-752A>G (n.-752A>G) n.6147A>G | ClinVar dbSNP COSMIC |
| 5 | g.90683969A>T | CA445466928 | ADGRV1 | c.6048A>T (p.Ala2016=) c.265+7760A>T (n.265+7760A>T) n.1507A>T c.165-1811A>T c.3339A>T (p.Ala1113=) c.860A>T n.6144A>T c.6045A>T (p.Ala2015=) c.5967A>T (p.Ala1989=) c.3351A>T (p.Ala1117=) c.5952A>T (p.Ala1984=) c.-752A>T (n.-752A>T) n.6147A>T | |
| 5 | g.90683970A= | CA1562855112 | ADGRV1 | c.6049A= (p.Thr2017=) c.265+7761A= (n.265+7761A=) n.1508A= c.165-1810A= c.3340A= (p.Thr1114=) c.861A= n.6145A= c.6046A= (p.Thr2016=) c.5968A= (p.Thr1990=) c.3352A= (p.Thr1118=) c.5953A= (p.Thr1985=) c.-751A= (n.-751A=) n.6148A= | |
| 5 | g.90683970A>C | CA360414017 | ADGRV1 | c.6049A>C (p.Thr2017Pro) c.265+7761A>C (n.265+7761A>C) n.1508A>C c.165-1810A>C c.3340A>C (p.Thr1114Pro) c.861A>C n.6145A>C c.6046A>C (p.Thr2016Pro) c.5968A>C (p.Thr1990Pro) c.3352A>C (p.Thr1118Pro) c.5953A>C (p.Thr1985Pro) c.-751A>C (n.-751A>C) n.6148A>C | COSMIC |
| 5 | g.90683970A>G | CA360414018 | ADGRV1 | c.6049A>G (p.Thr2017Ala) c.265+7761A>G (n.265+7761A>G) n.1508A>G c.165-1810A>G c.3340A>G (p.Thr1114Ala) c.861A>G n.6145A>G c.6046A>G (p.Thr2016Ala) c.5968A>G (p.Thr1990Ala) c.3352A>G (p.Thr1118Ala) c.5953A>G (p.Thr1985Ala) c.-751A>G (n.-751A>G) n.6148A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90683970A>T | CA360414019 | ADGRV1 | c.6049A>T (p.Thr2017Ser) c.265+7761A>T (n.265+7761A>T) n.1508A>T c.165-1810A>T c.3340A>T (p.Thr1114Ser) c.861A>T n.6145A>T c.6046A>T (p.Thr2016Ser) c.5968A>T (p.Thr1990Ser) c.3352A>T (p.Thr1118Ser) c.5953A>T (p.Thr1985Ser) c.-751A>T (n.-751A>T) n.6148A>T | |
| 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 |