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.90684071A>C | CA445467090 | ADGRV1 | c.6150A>C (p.Gly2050=) c.265+7862A>C (n.265+7862A>C) n.1609A>C c.165-1709A>C c.3441A>C (p.Gly1147=) c.962A>C n.6246A>C c.6147A>C (p.Gly2049=) c.6069A>C (p.Gly2023=) c.3453A>C (p.Gly1151=) c.6054A>C (p.Gly2018=) c.-650A>C (n.-650A>C) n.6249A>C | |
| 5 | g.90684071A>G | CA445467091 | ADGRV1 | c.6150A>G (p.Gly2050=) c.265+7862A>G (n.265+7862A>G) n.1609A>G c.165-1709A>G c.3441A>G (p.Gly1147=) c.962A>G n.6246A>G c.6147A>G (p.Gly2049=) c.6069A>G (p.Gly2023=) c.3453A>G (p.Gly1151=) c.6054A>G (p.Gly2018=) c.-650A>G (n.-650A>G) n.6249A>G | |
| 5 | g.90684071A>T | CA445467092 | ADGRV1 | c.6150A>T (p.Gly2050=) c.265+7862A>T (n.265+7862A>T) n.1609A>T c.165-1709A>T c.3441A>T (p.Gly1147=) c.962A>T n.6246A>T c.6147A>T (p.Gly2049=) c.6069A>T (p.Gly2023=) c.3453A>T (p.Gly1151=) c.6054A>T (p.Gly2018=) c.-650A>T (n.-650A>T) n.6249A>T | |
| 5 | g.90684072G>A | CA360414233 | ADGRV1 | c.6151G>A (p.Ala2051Thr) c.265+7863G>A (n.265+7863G>A) n.1610G>A c.165-1708G>A c.3442G>A (p.Ala1148Thr) c.963G>A n.6247G>A c.6148G>A (p.Ala2050Thr) c.6070G>A (p.Ala2024Thr) c.3454G>A (p.Ala1152Thr) c.6055G>A (p.Ala2019Thr) c.-649G>A (n.-649G>A) n.6250G>A | |
| 5 | g.90684072G>C | CA360414234 | ADGRV1 | c.6151G>C (p.Ala2051Pro) c.265+7863G>C (n.265+7863G>C) n.1610G>C c.165-1708G>C c.3442G>C (p.Ala1148Pro) c.963G>C n.6247G>C c.6148G>C (p.Ala2050Pro) c.6070G>C (p.Ala2024Pro) c.3454G>C (p.Ala1152Pro) c.6055G>C (p.Ala2019Pro) c.-649G>C (n.-649G>C) n.6250G>C | |
| 5 | g.90684072G>T | CA360414235 | ADGRV1 | c.6151G>T (p.Ala2051Ser) c.265+7863G>T (n.265+7863G>T) n.1610G>T c.165-1708G>T c.3442G>T (p.Ala1148Ser) c.963G>T n.6247G>T c.6148G>T (p.Ala2050Ser) c.6070G>T (p.Ala2024Ser) c.3454G>T (p.Ala1152Ser) c.6055G>T (p.Ala2019Ser) c.-649G>T (n.-649G>T) n.6250G>T | |
| 5 | g.90684073C>A | CA360414237 | ADGRV1 | c.6152C>A (p.Ala2051Asp) c.265+7864C>A (n.265+7864C>A) n.1611C>A c.165-1707C>A c.3443C>A (p.Ala1148Asp) c.964C>A n.6248C>A c.6149C>A (p.Ala2050Asp) c.6071C>A (p.Ala2024Asp) c.3455C>A (p.Ala1152Asp) c.6056C>A (p.Ala2019Asp) c.-648C>A (n.-648C>A) n.6251C>A | |
| 5 | g.90684073C>G | CA360414238 | ADGRV1 | c.6152C>G (p.Ala2051Gly) c.265+7864C>G (n.265+7864C>G) n.1611C>G c.165-1707C>G c.3443C>G (p.Ala1148Gly) c.964C>G n.6248C>G c.6149C>G (p.Ala2050Gly) c.6071C>G (p.Ala2024Gly) c.3455C>G (p.Ala1152Gly) c.6056C>G (p.Ala2019Gly) c.-648C>G (n.-648C>G) n.6251C>G | |
| 5 | g.90684073C>T | CA360414236 | ADGRV1 | c.6152C>T (p.Ala2051Val) c.265+7864C>T (n.265+7864C>T) n.1611C>T c.165-1707C>T c.3443C>T (p.Ala1148Val) c.964C>T n.6248C>T c.6149C>T (p.Ala2050Val) c.6071C>T (p.Ala2024Val) c.3455C>T (p.Ala1152Val) c.6056C>T (p.Ala2019Val) c.-648C>T (n.-648C>T) n.6251C>T | |
| 5 | g.90684074T>A | CA445467095 | ADGRV1 | c.6153T>A (p.Ala2051=) c.265+7865T>A (n.265+7865T>A) n.1612T>A c.165-1706T>A c.3444T>A (p.Ala1148=) c.965T>A n.6249T>A c.6150T>A (p.Ala2050=) c.6072T>A (p.Ala2024=) c.3456T>A (p.Ala1152=) c.6057T>A (p.Ala2019=) c.-647T>A (n.-647T>A) n.6252T>A | |
| 5 | g.90684074T>C | CA445467096 | ADGRV1 | c.6153T>C (p.Ala2051=) c.265+7865T>C (n.265+7865T>C) n.1612T>C c.165-1706T>C c.3444T>C (p.Ala1148=) c.965T>C n.6249T>C c.6150T>C (p.Ala2050=) c.6072T>C (p.Ala2024=) c.3456T>C (p.Ala1152=) c.6057T>C (p.Ala2019=) c.-647T>C (n.-647T>C) n.6252T>C | |
| 5 | g.90684074T>G | CA445467097 | ADGRV1 | c.6153T>G (p.Ala2051=) c.265+7865T>G (n.265+7865T>G) n.1612T>G c.165-1706T>G c.3444T>G (p.Ala1148=) c.965T>G n.6249T>G c.6150T>G (p.Ala2050=) c.6072T>G (p.Ala2024=) c.3456T>G (p.Ala1152=) c.6057T>G (p.Ala2019=) c.-647T>G (n.-647T>G) n.6252T>G | |
| 5 | g.90684075A= | CA1562855160 | ADGRV1 | c.6154A= (p.Asn2052=) c.265+7866A= (n.265+7866A=) n.1613A= c.165-1705A= c.3445A= (p.Asn1149=) c.966A= n.6250A= c.6151A= (p.Asn2051=) c.6073A= (p.Asn2025=) c.3457A= (p.Asn1153=) c.6058A= (p.Asn2020=) c.-646A= (n.-646A=) n.6253A= | |
| 5 | g.90684075A>C | CA360414239 | ADGRV1 | c.6154A>C (p.Asn2052His) c.265+7866A>C (n.265+7866A>C) n.1613A>C c.165-1705A>C c.3445A>C (p.Asn1149His) c.966A>C n.6250A>C c.6151A>C (p.Asn2051His) c.6073A>C (p.Asn2025His) c.3457A>C (p.Asn1153His) c.6058A>C (p.Asn2020His) c.-646A>C (n.-646A>C) n.6253A>C | |
| 5 | g.90684075A>G | CA360414240 | ADGRV1 | c.6154A>G (p.Asn2052Asp) c.265+7866A>G (n.265+7866A>G) n.1613A>G c.165-1705A>G c.3445A>G (p.Asn1149Asp) c.966A>G n.6250A>G c.6151A>G (p.Asn2051Asp) c.6073A>G (p.Asn2025Asp) c.3457A>G (p.Asn1153Asp) c.6058A>G (p.Asn2020Asp) c.-646A>G (n.-646A>G) n.6253A>G | |
| 5 | g.90684075A>T | CA360414241 | ADGRV1 | c.6154A>T (p.Asn2052Tyr) c.265+7866A>T (n.265+7866A>T) n.1613A>T c.165-1705A>T c.3445A>T (p.Asn1149Tyr) c.966A>T n.6250A>T c.6151A>T (p.Asn2051Tyr) c.6073A>T (p.Asn2025Tyr) c.3457A>T (p.Asn1153Tyr) c.6058A>T (p.Asn2020Tyr) c.-646A>T (n.-646A>T) n.6253A>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90684076A>C | CA360414242 | ADGRV1 | c.6155A>C (p.Asn2052Thr) c.265+7867A>C (n.265+7867A>C) n.1614A>C c.165-1704A>C c.3446A>C (p.Asn1149Thr) c.967A>C n.6251A>C c.6152A>C (p.Asn2051Thr) c.6074A>C (p.Asn2025Thr) c.3458A>C (p.Asn1153Thr) c.6059A>C (p.Asn2020Thr) c.-645A>C (n.-645A>C) n.6254A>C | |
| 5 | g.90684076A>G | CA360414243 | ADGRV1 | c.6155A>G (p.Asn2052Ser) c.265+7867A>G (n.265+7867A>G) n.1614A>G c.165-1704A>G c.3446A>G (p.Asn1149Ser) c.967A>G n.6251A>G c.6152A>G (p.Asn2051Ser) c.6074A>G (p.Asn2025Ser) c.3458A>G (p.Asn1153Ser) c.6059A>G (p.Asn2020Ser) c.-645A>G (n.-645A>G) n.6254A>G | |
| 5 | g.90684076A>T | CA360414244 | ADGRV1 | c.6155A>T (p.Asn2052Ile) c.265+7867A>T (n.265+7867A>T) n.1614A>T c.165-1704A>T c.3446A>T (p.Asn1149Ile) c.967A>T n.6251A>T c.6152A>T (p.Asn2051Ile) c.6074A>T (p.Asn2025Ile) c.3458A>T (p.Asn1153Ile) c.6059A>T (p.Asn2020Ile) c.-645A>T (n.-645A>T) n.6254A>T | |
| 5 | g.90684077T>A | CA360414245 | ADGRV1 | c.6156T>A (p.Asn2052Lys) c.265+7868T>A (n.265+7868T>A) n.1615T>A c.165-1703T>A c.3447T>A (p.Asn1149Lys) c.968T>A n.6252T>A c.6153T>A (p.Asn2051Lys) c.6075T>A (p.Asn2025Lys) c.3459T>A (p.Asn1153Lys) c.6060T>A (p.Asn2020Lys) c.-644T>A (n.-644T>A) n.6255T>A | |
| 5 | g.90684077T>C | CA445467099 | ADGRV1 | c.6156T>C (p.Asn2052=) c.265+7868T>C (n.265+7868T>C) n.1615T>C c.165-1703T>C c.3447T>C (p.Asn1149=) c.968T>C n.6252T>C c.6153T>C (p.Asn2051=) c.6075T>C (p.Asn2025=) c.3459T>C (p.Asn1153=) c.6060T>C (p.Asn2020=) c.-644T>C (n.-644T>C) n.6255T>C | |
| 5 | g.90684077T>G | CA360414246 | ADGRV1 | c.6156T>G (p.Asn2052Lys) c.265+7868T>G (n.265+7868T>G) n.1615T>G c.165-1703T>G c.3447T>G (p.Asn1149Lys) c.968T>G n.6252T>G c.6153T>G (p.Asn2051Lys) c.6075T>G (p.Asn2025Lys) c.3459T>G (p.Asn1153Lys) c.6060T>G (p.Asn2020Lys) c.-644T>G (n.-644T>G) n.6255T>G | |
| 5 | g.90684078C>A | CA360414247 | ADGRV1 | c.6157C>A (p.Gln2053Lys) c.265+7869C>A (n.265+7869C>A) n.1616C>A c.165-1702C>A c.3448C>A (p.Gln1150Lys) c.969C>A n.6253C>A c.6154C>A (p.Gln2052Lys) c.6076C>A (p.Gln2026Lys) c.3460C>A (p.Gln1154Lys) c.6061C>A (p.Gln2021Lys) c.-643C>A (n.-643C>A) n.6256C>A | |
| 5 | g.90684078C>G | CA360414248 | ADGRV1 | c.6157C>G (p.Gln2053Glu) c.265+7869C>G (n.265+7869C>G) n.1616C>G c.165-1702C>G c.3448C>G (p.Gln1150Glu) c.969C>G n.6253C>G c.6154C>G (p.Gln2052Glu) c.6076C>G (p.Gln2026Glu) c.3460C>G (p.Gln1154Glu) c.6061C>G (p.Gln2021Glu) c.-643C>G (n.-643C>G) n.6256C>G | gnomAD v4 |
| 5 | g.90684078C>T | CA360414249 | ADGRV1 | c.6157C>T (p.Gln2053Ter) c.265+7869C>T (n.265+7869C>T) n.1616C>T c.165-1702C>T c.3448C>T (p.Gln1150Ter) c.969C>T n.6253C>T c.6154C>T (p.Gln2052Ter) c.6076C>T (p.Gln2026Ter) c.3460C>T (p.Gln1154Ter) c.6061C>T (p.Gln2021Ter) c.-643C>T (n.-643C>T) n.6256C>T | COSMIC |
| 5 | g.90684079A= | CA1562855161 | ADGRV1 | c.6158A= (p.Gln2053=) c.265+7870A= (n.265+7870A=) n.1617A= c.165-1701A= c.3449A= (p.Gln1150=) c.970A= n.6254A= c.6155A= (p.Gln2052=) c.6077A= (p.Gln2026=) c.3461A= (p.Gln1154=) c.6062A= (p.Gln2021=) c.-642A= (n.-642A=) n.6257A= | |
| 5 | g.90684079A>C | CA360414250 | ADGRV1 | c.6158A>C (p.Gln2053Pro) c.265+7870A>C (n.265+7870A>C) n.1617A>C c.165-1701A>C c.3449A>C (p.Gln1150Pro) c.970A>C n.6254A>C c.6155A>C (p.Gln2052Pro) c.6077A>C (p.Gln2026Pro) c.3461A>C (p.Gln1154Pro) c.6062A>C (p.Gln2021Pro) c.-642A>C (n.-642A>C) n.6257A>C | |
| 5 | g.90684079A>G | CA3339716 | ADGRV1 | c.6158A>G (p.Gln2053Arg) c.265+7870A>G (n.265+7870A>G) n.1617A>G c.165-1701A>G c.3449A>G (p.Gln1150Arg) c.970A>G n.6254A>G c.6155A>G (p.Gln2052Arg) c.6077A>G (p.Gln2026Arg) c.3461A>G (p.Gln1154Arg) c.6062A>G (p.Gln2021Arg) c.-642A>G (n.-642A>G) n.6257A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90684079A>T | CA360414251 | ADGRV1 | c.6158A>T (p.Gln2053Leu) c.265+7870A>T (n.265+7870A>T) n.1617A>T c.165-1701A>T c.3449A>T (p.Gln1150Leu) c.970A>T n.6254A>T c.6155A>T (p.Gln2052Leu) c.6077A>T (p.Gln2026Leu) c.3461A>T (p.Gln1154Leu) c.6062A>T (p.Gln2021Leu) c.-642A>T (n.-642A>T) n.6257A>T | |
| 5 | g.90684080G>A | CA445467098 | ADGRV1 | c.6159G>A (p.Gln2053=) c.265+7871G>A (n.265+7871G>A) n.1618G>A c.165-1700G>A c.3450G>A (p.Gln1150=) c.971G>A n.6255G>A c.6156G>A (p.Gln2052=) c.6078G>A (p.Gln2026=) c.3462G>A (p.Gln1154=) c.6063G>A (p.Gln2021=) c.-641G>A (n.-641G>A) n.6258G>A | |
| 5 | g.90684080G>C | CA360414253 | ADGRV1 | c.6159G>C (p.Gln2053His) c.265+7871G>C (n.265+7871G>C) n.1618G>C c.165-1700G>C c.3450G>C (p.Gln1150His) c.971G>C n.6255G>C c.6156G>C (p.Gln2052His) c.6078G>C (p.Gln2026His) c.3462G>C (p.Gln1154His) c.6063G>C (p.Gln2021His) c.-641G>C (n.-641G>C) n.6258G>C | |
| 5 | g.90684080G>T | CA360414252 | ADGRV1 | c.6159G>T (p.Gln2053His) c.265+7871G>T (n.265+7871G>T) n.1618G>T c.165-1700G>T c.3450G>T (p.Gln1150His) c.971G>T n.6255G>T c.6156G>T (p.Gln2052His) c.6078G>T (p.Gln2026His) c.3462G>T (p.Gln1154His) c.6063G>T (p.Gln2021His) c.-641G>T (n.-641G>T) n.6258G>T | |
| 5 | g.90684081A= | CA1562855162 | ADGRV1 | c.6160A= (p.Ser2054=) c.265+7872A= (n.265+7872A=) n.1619A= c.165-1699A= c.3451A= (p.Ser1151=) c.972A= n.6256A= c.6157A= (p.Ser2053=) c.6079A= (p.Ser2027=) c.3463A= (p.Ser1155=) c.6064A= (p.Ser2022=) c.-640A= (n.-640A=) n.6259A= | |
| 5 | g.90684081A>C | CA360414254 | ADGRV1 | c.6160A>C (p.Ser2054Arg) c.265+7872A>C (n.265+7872A>C) n.1619A>C c.165-1699A>C c.3451A>C (p.Ser1151Arg) c.972A>C n.6256A>C c.6157A>C (p.Ser2053Arg) c.6079A>C (p.Ser2027Arg) c.3463A>C (p.Ser1155Arg) c.6064A>C (p.Ser2022Arg) c.-640A>C (n.-640A>C) n.6259A>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90684081A>G | CA360414255 | ADGRV1 | c.6160A>G (p.Ser2054Gly) c.265+7872A>G (n.265+7872A>G) n.1619A>G c.165-1699A>G c.3451A>G (p.Ser1151Gly) c.972A>G n.6256A>G c.6157A>G (p.Ser2053Gly) c.6079A>G (p.Ser2027Gly) c.3463A>G (p.Ser1155Gly) c.6064A>G (p.Ser2022Gly) c.-640A>G (n.-640A>G) n.6259A>G | |
| 5 | g.90684081A>T | CA360414256 | ADGRV1 | c.6160A>T (p.Ser2054Cys) c.265+7872A>T (n.265+7872A>T) n.1619A>T c.165-1699A>T c.3451A>T (p.Ser1151Cys) c.972A>T n.6256A>T c.6157A>T (p.Ser2053Cys) c.6079A>T (p.Ser2027Cys) c.3463A>T (p.Ser1155Cys) c.6064A>T (p.Ser2022Cys) c.-640A>T (n.-640A>T) n.6259A>T | |
| 5 | g.90684082G>A | CA176197 | ADGRV1 | c.6161G>A (p.Ser2054Asn) c.265+7873G>A (n.265+7873G>A) n.1620G>A c.165-1698G>A c.3452G>A (p.Ser1151Asn) c.973G>A n.6257G>A c.6158G>A (p.Ser2053Asn) c.6080G>A (p.Ser2027Asn) c.3464G>A (p.Ser1155Asn) c.6065G>A (p.Ser2022Asn) c.-639G>A (n.-639G>A) n.6260G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90684082G>C | CA360414257 | ADGRV1 | c.6161G>C (p.Ser2054Thr) c.265+7873G>C (n.265+7873G>C) n.1620G>C c.165-1698G>C c.3452G>C (p.Ser1151Thr) c.973G>C n.6257G>C c.6158G>C (p.Ser2053Thr) c.6080G>C (p.Ser2027Thr) c.3464G>C (p.Ser1155Thr) c.6065G>C (p.Ser2022Thr) c.-639G>C (n.-639G>C) n.6260G>C | |
| 5 | g.90684082G= | CA1562855163 | ADGRV1 | c.6161G= (p.Ser2054=) c.265+7873G= (n.265+7873G=) n.1620G= c.165-1698G= c.3452G= (p.Ser1151=) c.973G= n.6257G= c.6158G= (p.Ser2053=) c.6080G= (p.Ser2027=) c.3464G= (p.Ser1155=) c.6065G= (p.Ser2022=) c.-639G= (n.-639G=) n.6260G= | |
| 5 | g.90684082G>T | CA360414258 | ADGRV1 | c.6161G>T (p.Ser2054Ile) c.265+7873G>T (n.265+7873G>T) n.1620G>T c.165-1698G>T c.3452G>T (p.Ser1151Ile) c.973G>T n.6257G>T c.6158G>T (p.Ser2053Ile) c.6080G>T (p.Ser2027Ile) c.3464G>T (p.Ser1155Ile) c.6065G>T (p.Ser2022Ile) c.-639G>T (n.-639G>T) n.6260G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90684083T>A | CA360414259 | ADGRV1 | c.6162T>A (p.Ser2054Arg) c.265+7874T>A (n.265+7874T>A) n.1621T>A c.165-1697T>A c.3453T>A (p.Ser1151Arg) c.974T>A n.6258T>A c.6159T>A (p.Ser2053Arg) c.6081T>A (p.Ser2027Arg) c.3465T>A (p.Ser1155Arg) c.6066T>A (p.Ser2022Arg) c.-638T>A (n.-638T>A) n.6261T>A | |
| 5 | g.90684083T>C | CA445467100 | ADGRV1 | c.6162T>C (p.Ser2054=) c.265+7874T>C (n.265+7874T>C) n.1621T>C c.165-1697T>C c.3453T>C (p.Ser1151=) c.974T>C n.6258T>C c.6159T>C (p.Ser2053=) c.6081T>C (p.Ser2027=) c.3465T>C (p.Ser1155=) c.6066T>C (p.Ser2022=) c.-638T>C (n.-638T>C) n.6261T>C | gnomAD v4 |
| 5 | g.90684083T>G | CA360414260 | ADGRV1 | c.6162T>G (p.Ser2054Arg) c.265+7874T>G (n.265+7874T>G) n.1621T>G c.165-1697T>G c.3453T>G (p.Ser1151Arg) c.974T>G n.6258T>G c.6159T>G (p.Ser2053Arg) c.6081T>G (p.Ser2027Arg) c.3465T>G (p.Ser1155Arg) c.6066T>G (p.Ser2022Arg) c.-638T>G (n.-638T>G) n.6261T>G | |
| 5 | g.90684084G>A | CA360414261 | ADGRV1 | c.6163G>A (p.Glu2055Lys) c.265+7875G>A (n.265+7875G>A) n.1622G>A c.165-1696G>A c.3454G>A (p.Glu1152Lys) c.975G>A n.6259G>A c.6160G>A (p.Glu2054Lys) c.6082G>A (p.Glu2028Lys) c.3466G>A (p.Glu1156Lys) c.6067G>A (p.Glu2023Lys) c.-637G>A (n.-637G>A) n.6262G>A | |
| 5 | g.90684084G>C | CA360414263 | ADGRV1 | c.6163G>C (p.Glu2055Gln) c.265+7875G>C (n.265+7875G>C) n.1622G>C c.165-1696G>C c.3454G>C (p.Glu1152Gln) c.975G>C n.6259G>C c.6160G>C (p.Glu2054Gln) c.6082G>C (p.Glu2028Gln) c.3466G>C (p.Glu1156Gln) c.6067G>C (p.Glu2023Gln) c.-637G>C (n.-637G>C) n.6262G>C | |
| 5 | g.90684084G>T | CA360414262 | ADGRV1 | c.6163G>T (p.Glu2055Ter) c.265+7875G>T (n.265+7875G>T) n.1622G>T c.165-1696G>T c.3454G>T (p.Glu1152Ter) c.975G>T n.6259G>T c.6160G>T (p.Glu2054Ter) c.6082G>T (p.Glu2028Ter) c.3466G>T (p.Glu1156Ter) c.6067G>T (p.Glu2023Ter) c.-637G>T (n.-637G>T) n.6262G>T | |
| 5 | g.90684085A>C | CA360414264 | ADGRV1 | c.6164A>C (p.Glu2055Ala) c.265+7876A>C (n.265+7876A>C) n.1623A>C c.165-1695A>C c.3455A>C (p.Glu1152Ala) c.976A>C n.6260A>C c.6161A>C (p.Glu2054Ala) c.6083A>C (p.Glu2028Ala) c.3467A>C (p.Glu1156Ala) c.6068A>C (p.Glu2023Ala) c.-636A>C (n.-636A>C) n.6263A>C | |
| 5 | g.90684085A>G | CA360414265 | ADGRV1 | c.6164A>G (p.Glu2055Gly) c.265+7876A>G (n.265+7876A>G) n.1623A>G c.165-1695A>G c.3455A>G (p.Glu1152Gly) c.976A>G n.6260A>G c.6161A>G (p.Glu2054Gly) c.6083A>G (p.Glu2028Gly) c.3467A>G (p.Glu1156Gly) c.6068A>G (p.Glu2023Gly) c.-636A>G (n.-636A>G) n.6263A>G | |
| 5 | g.90684085A>T | CA360414266 | ADGRV1 | c.6164A>T (p.Glu2055Val) c.265+7876A>T (n.265+7876A>T) n.1623A>T c.165-1695A>T c.3455A>T (p.Glu1152Val) c.976A>T n.6260A>T c.6161A>T (p.Glu2054Val) c.6083A>T (p.Glu2028Val) c.3467A>T (p.Glu1156Val) c.6068A>T (p.Glu2023Val) c.-636A>T (n.-636A>T) n.6263A>T | |
| 5 | g.90684086G>A | CA445467103 | ADGRV1 | c.6165G>A (p.Glu2055=) c.265+7877G>A (n.265+7877G>A) n.1624G>A c.165-1694G>A c.3456G>A (p.Glu1152=) c.977G>A n.6261G>A c.6162G>A (p.Glu2054=) c.6084G>A (p.Glu2028=) c.3468G>A (p.Glu1156=) c.6069G>A (p.Glu2023=) c.-635G>A (n.-635G>A) n.6264G>A |