Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
5 | g.90683985G>C | CA360414052 | ADGRV1 | c.6064G>C (p.Glu2022Gln) c.265+7776G>C (n.265+7776G>C) n.1523G>C c.165-1795G>C c.3355G>C (p.Glu1119Gln) c.876G>C n.6160G>C c.6061G>C (p.Glu2021Gln) c.5983G>C (p.Glu1995Gln) c.3367G>C (p.Glu1123Gln) c.5968G>C (p.Glu1990Gln) c.-736G>C (n.-736G>C) n.6163G>C | |
5 | g.90683985G>T | CA360414053 | ADGRV1 | c.6064G>T (p.Glu2022Ter) c.265+7776G>T (n.265+7776G>T) n.1523G>T c.165-1795G>T c.3355G>T (p.Glu1119Ter) c.876G>T n.6160G>T c.6061G>T (p.Glu2021Ter) c.5983G>T (p.Glu1995Ter) c.3367G>T (p.Glu1123Ter) c.5968G>T (p.Glu1990Ter) c.-736G>T (n.-736G>T) n.6163G>T | |
5 | g.90683986A>C | CA360414054 | ADGRV1 | c.6065A>C (p.Glu2022Ala) c.265+7777A>C (n.265+7777A>C) n.1524A>C c.165-1794A>C c.3356A>C (p.Glu1119Ala) c.877A>C n.6161A>C c.6062A>C (p.Glu2021Ala) c.5984A>C (p.Glu1995Ala) c.3368A>C (p.Glu1123Ala) c.5969A>C (p.Glu1990Ala) c.-735A>C (n.-735A>C) n.6164A>C | |
5 | g.90683986A>G | CA360414055 | ADGRV1 | c.6065A>G (p.Glu2022Gly) c.265+7777A>G (n.265+7777A>G) n.1524A>G c.165-1794A>G c.3356A>G (p.Glu1119Gly) c.877A>G n.6161A>G c.6062A>G (p.Glu2021Gly) c.5984A>G (p.Glu1995Gly) c.3368A>G (p.Glu1123Gly) c.5969A>G (p.Glu1990Gly) c.-735A>G (n.-735A>G) n.6164A>G | |
5 | g.90683986A>T | CA360414056 | ADGRV1 | c.6065A>T (p.Glu2022Val) c.265+7777A>T (n.265+7777A>T) n.1524A>T c.165-1794A>T c.3356A>T (p.Glu1119Val) c.877A>T n.6161A>T c.6062A>T (p.Glu2021Val) c.5984A>T (p.Glu1995Val) c.3368A>T (p.Glu1123Val) c.5969A>T (p.Glu1990Val) c.-735A>T (n.-735A>T) n.6164A>T | |
5 | g.90683990del | CA645561249 | ADGRV1 | c.6069del (p.Lys2023AsnfsTer9) c.265+7781del (n.265+7781del) n.1528del c.165-1790del c.3360del (p.Lys1120AsnfsTer9) c.881del n.6165del c.6066del (p.Lys2022AsnfsTer9) c.5988del (p.Lys1996AsnfsTer9) c.3372del (p.Lys1124AsnfsTer9) c.5973del (p.Lys1991AsnfsTer9) c.-731del (n.-731del) n.6168del | COSMIC |
5 | g.90683987A= | CA1562855120 | ADGRV1 | c.6066A= (p.Glu2022=) c.265+7778A= (n.265+7778A=) n.1525A= c.165-1793A= c.3357A= (p.Glu1119=) c.878A= n.6162A= c.6063A= (p.Glu2021=) c.5985A= (p.Glu1995=) c.3369A= (p.Glu1123=) c.5970A= (p.Glu1990=) c.-734A= (n.-734A=) n.6165A= | |
5 | g.90683987A>C | CA360414057 | ADGRV1 | c.6066A>C (p.Glu2022Asp) c.265+7778A>C (n.265+7778A>C) n.1525A>C c.165-1793A>C c.3357A>C (p.Glu1119Asp) c.878A>C n.6162A>C c.6063A>C (p.Glu2021Asp) c.5985A>C (p.Glu1995Asp) c.3369A>C (p.Glu1123Asp) c.5970A>C (p.Glu1990Asp) c.-734A>C (n.-734A>C) n.6165A>C | |
5 | g.90683987A>G | CA122801354 | ADGRV1 | c.6066A>G (p.Glu2022=) c.265+7778A>G (n.265+7778A>G) n.1525A>G c.165-1793A>G c.3357A>G (p.Glu1119=) c.878A>G n.6162A>G c.6063A>G (p.Glu2021=) c.5985A>G (p.Glu1995=) c.3369A>G (p.Glu1123=) c.5970A>G (p.Glu1990=) c.-734A>G (n.-734A>G) n.6165A>G | dbSNP |
5 | g.90683987A>T | CA360414058 | ADGRV1 | c.6066A>T (p.Glu2022Asp) c.265+7778A>T (n.265+7778A>T) n.1525A>T c.165-1793A>T c.3357A>T (p.Glu1119Asp) c.878A>T n.6162A>T c.6063A>T (p.Glu2021Asp) c.5985A>T (p.Glu1995Asp) c.3369A>T (p.Glu1123Asp) c.5970A>T (p.Glu1990Asp) c.-734A>T (n.-734A>T) n.6165A>T | |
5 | g.90683988A>C | CA360414059 | ADGRV1 | c.6067A>C (p.Lys2023Gln) c.265+7779A>C (n.265+7779A>C) n.1526A>C c.165-1792A>C c.3358A>C (p.Lys1120Gln) c.879A>C n.6163A>C c.6064A>C (p.Lys2022Gln) c.5986A>C (p.Lys1996Gln) c.3370A>C (p.Lys1124Gln) c.5971A>C (p.Lys1991Gln) c.-733A>C (n.-733A>C) n.6166A>C | |
5 | g.90683988A>G | CA360414060 | ADGRV1 | c.6067A>G (p.Lys2023Glu) c.265+7779A>G (n.265+7779A>G) n.1526A>G c.165-1792A>G c.3358A>G (p.Lys1120Glu) c.879A>G n.6163A>G c.6064A>G (p.Lys2022Glu) c.5986A>G (p.Lys1996Glu) c.3370A>G (p.Lys1124Glu) c.5971A>G (p.Lys1991Glu) c.-733A>G (n.-733A>G) n.6166A>G | |
5 | g.90683988A>T | CA360414061 | ADGRV1 | c.6067A>T (p.Lys2023Ter) c.265+7779A>T (n.265+7779A>T) n.1526A>T c.165-1792A>T c.3358A>T (p.Lys1120Ter) c.879A>T n.6163A>T c.6064A>T (p.Lys2022Ter) c.5986A>T (p.Lys1996Ter) c.3370A>T (p.Lys1124Ter) c.5971A>T (p.Lys1991Ter) c.-733A>T (n.-733A>T) n.6166A>T | |
5 | g.90683989A>C | CA360414062 | ADGRV1 | c.6068A>C (p.Lys2023Thr) c.265+7780A>C (n.265+7780A>C) n.1527A>C c.165-1791A>C c.3359A>C (p.Lys1120Thr) c.880A>C n.6164A>C c.6065A>C (p.Lys2022Thr) c.5987A>C (p.Lys1996Thr) c.3371A>C (p.Lys1124Thr) c.5972A>C (p.Lys1991Thr) c.-732A>C (n.-732A>C) n.6167A>C | |
5 | g.90683989A>G | CA360414063 | ADGRV1 | c.6068A>G (p.Lys2023Arg) c.265+7780A>G (n.265+7780A>G) n.1527A>G c.165-1791A>G c.3359A>G (p.Lys1120Arg) c.880A>G n.6164A>G c.6065A>G (p.Lys2022Arg) c.5987A>G (p.Lys1996Arg) c.3371A>G (p.Lys1124Arg) c.5972A>G (p.Lys1991Arg) c.-732A>G (n.-732A>G) n.6167A>G | |
5 | g.90683989A>T | CA360414064 | ADGRV1 | c.6068A>T (p.Lys2023Ile) c.265+7780A>T (n.265+7780A>T) n.1527A>T c.165-1791A>T c.3359A>T (p.Lys1120Ile) c.880A>T n.6164A>T c.6065A>T (p.Lys2022Ile) c.5987A>T (p.Lys1996Ile) c.3371A>T (p.Lys1124Ile) c.5972A>T (p.Lys1991Ile) c.-732A>T (n.-732A>T) n.6167A>T | |
5 | g.90683990A>C | CA360414065 | ADGRV1 | c.6069A>C (p.Lys2023Asn) c.265+7781A>C (n.265+7781A>C) n.1528A>C c.165-1790A>C c.3360A>C (p.Lys1120Asn) c.881A>C n.6165A>C c.6066A>C (p.Lys2022Asn) c.5988A>C (p.Lys1996Asn) c.3372A>C (p.Lys1124Asn) c.5973A>C (p.Lys1991Asn) c.-731A>C (n.-731A>C) n.6168A>C | gnomAD v4 |
5 | g.90683990A>G | CA445466954 | ADGRV1 | c.6069A>G (p.Lys2023=) c.265+7781A>G (n.265+7781A>G) n.1528A>G c.165-1790A>G c.3360A>G (p.Lys1120=) c.881A>G n.6165A>G c.6066A>G (p.Lys2022=) c.5988A>G (p.Lys1996=) c.3372A>G (p.Lys1124=) c.5973A>G (p.Lys1991=) c.-731A>G (n.-731A>G) n.6168A>G | |
5 | g.90683990A>T | CA360414066 | ADGRV1 | c.6069A>T (p.Lys2023Asn) c.265+7781A>T (n.265+7781A>T) n.1528A>T c.165-1790A>T c.3360A>T (p.Lys1120Asn) c.881A>T n.6165A>T c.6066A>T (p.Lys2022Asn) c.5988A>T (p.Lys1996Asn) c.3372A>T (p.Lys1124Asn) c.5973A>T (p.Lys1991Asn) c.-731A>T (n.-731A>T) n.6168A>T | |
5 | g.90683991C>A | CA360414067 | ADGRV1 | c.6070C>A (p.Pro2024Thr) c.265+7782C>A (n.265+7782C>A) n.1529C>A c.165-1789C>A c.3361C>A (p.Pro1121Thr) c.882C>A n.6166C>A c.6067C>A (p.Pro2023Thr) c.5989C>A (p.Pro1997Thr) c.3373C>A (p.Pro1125Thr) c.5974C>A (p.Pro1992Thr) c.-730C>A (n.-730C>A) n.6169C>A |