Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90692731_90692732delinsCG | CA1562859308 | ADGRV1 | c.7078_7079delinsCG (p.Arg2360=) c.265+16522_265+16523delinsCG (n.265+16522_265+16523delinsCG) n.2537_2538delinsCG c.885_886delinsCG n.222_223delinsCG c.4369_4370delinsCG (p.Arg1457=) c.1807_1808delinsCG n.7091_7092delinsCG c.7075_7076delinsCG (p.Arg2359=) c.6997_6998delinsCG (p.Arg2333=) c.4381_4382delinsCG (p.Arg1461=) c.6982_6983delinsCG (p.Arg2328=) c.196_197delinsCG (p.Arg66=) n.7094_7095delinsCG | |
5 | g.90692731_90692732delinsTA | CA1562859307 | ADGRV1 | c.7078_7079delinsTA (p.Arg2360Tyr) c.265+16522_265+16523delinsTA (n.265+16522_265+16523delinsTA) n.2537_2538delinsTA c.885_886delinsTA n.222_223delinsTA c.4369_4370delinsTA (p.Arg1457Tyr) c.1807_1808delinsTA n.7091_7092delinsTA c.7075_7076delinsTA (p.Arg2359Tyr) c.6997_6998delinsTA (p.Arg2333Tyr) c.4381_4382delinsTA (p.Arg1461Tyr) c.6982_6983delinsTA (p.Arg2328Tyr) c.196_197delinsTA (p.Arg66Tyr) n.7094_7095delinsTA | ClinVar dbSNP |
5 | g.90692732G>A | CA138192 | ADGRV1 | c.7079G>A (p.Arg2360His) c.265+16523G>A (n.265+16523G>A) n.2538G>A c.886G>A n.223G>A c.4370G>A (p.Arg1457His) c.1808G>A n.7092G>A c.7076G>A (p.Arg2359His) c.6998G>A (p.Arg2333His) c.4382G>A (p.Arg1461His) c.6983G>A (p.Arg2328His) c.197G>A (p.Arg66His) n.7095G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90692732G>C | CA360371679 | ADGRV1 | c.7079G>C (p.Arg2360Pro) c.265+16523G>C (n.265+16523G>C) n.2538G>C c.886G>C n.223G>C c.4370G>C (p.Arg1457Pro) c.1808G>C n.7092G>C c.7076G>C (p.Arg2359Pro) c.6998G>C (p.Arg2333Pro) c.4382G>C (p.Arg1461Pro) c.6983G>C (p.Arg2328Pro) c.197G>C (p.Arg66Pro) n.7095G>C | gnomAD v4 |
5 | g.90692732G= | CA1562859310 | ADGRV1 | c.7079G= (p.Arg2360=) c.265+16523G= (n.265+16523G=) n.2538G= c.886G= n.223G= c.4370G= (p.Arg1457=) c.1808G= n.7092G= c.7076G= (p.Arg2359=) c.6998G= (p.Arg2333=) c.4382G= (p.Arg1461=) c.6983G= (p.Arg2328=) c.197G= (p.Arg66=) n.7095G= | |
5 | g.90692732G>T | CA360371671 | ADGRV1 | c.7079G>T (p.Arg2360Leu) c.265+16523G>T (n.265+16523G>T) n.2538G>T c.886G>T n.223G>T c.4370G>T (p.Arg1457Leu) c.1808G>T n.7092G>T c.7076G>T (p.Arg2359Leu) c.6998G>T (p.Arg2333Leu) c.4382G>T (p.Arg1461Leu) c.6983G>T (p.Arg2328Leu) c.197G>T (p.Arg66Leu) n.7095G>T | |
5 | g.90692733T>A | CA445404552 | ADGRV1 | c.7080T>A (p.Arg2360=) c.265+16524T>A (n.265+16524T>A) n.2539T>A c.887T>A n.224T>A c.4371T>A (p.Arg1457=) c.1809T>A n.7093T>A c.7077T>A (p.Arg2359=) c.6999T>A (p.Arg2333=) c.4383T>A (p.Arg1461=) c.6984T>A (p.Arg2328=) c.198T>A (p.Arg66=) n.7096T>A | |
5 | g.90692733T>C | CA445404549 | ADGRV1 | c.7080T>C (p.Arg2360=) c.265+16524T>C (n.265+16524T>C) n.2539T>C c.887T>C n.224T>C c.4371T>C (p.Arg1457=) c.1809T>C n.7093T>C c.7077T>C (p.Arg2359=) c.6999T>C (p.Arg2333=) c.4383T>C (p.Arg1461=) c.6984T>C (p.Arg2328=) c.198T>C (p.Arg66=) n.7096T>C | |
5 | g.90692733T>G | CA445404551 | ADGRV1 | c.7080T>G (p.Arg2360=) c.265+16524T>G (n.265+16524T>G) n.2539T>G c.887T>G n.224T>G c.4371T>G (p.Arg1457=) c.1809T>G n.7093T>G c.7077T>G (p.Arg2359=) c.6999T>G (p.Arg2333=) c.4383T>G (p.Arg1461=) c.6984T>G (p.Arg2328=) c.198T>G (p.Arg66=) n.7096T>G | |
5 | g.90692734G>A | CA360371682 | ADGRV1 | c.7081G>A (p.Val2361Ile) c.265+16525G>A (n.265+16525G>A) n.2540G>A c.888G>A n.225G>A c.4372G>A (p.Val1458Ile) c.1810G>A n.7094G>A c.7078G>A (p.Val2360Ile) c.7000G>A (p.Val2334Ile) c.4384G>A (p.Val1462Ile) c.6985G>A (p.Val2329Ile) c.199G>A (p.Val67Ile) n.7097G>A | gnomAD v4 |
5 | g.90692734G>C | CA360371685 | ADGRV1 | c.7081G>C (p.Val2361Leu) c.265+16525G>C (n.265+16525G>C) n.2540G>C c.888G>C n.225G>C c.4372G>C (p.Val1458Leu) c.1810G>C n.7094G>C c.7078G>C (p.Val2360Leu) c.7000G>C (p.Val2334Leu) c.4384G>C (p.Val1462Leu) c.6985G>C (p.Val2329Leu) c.199G>C (p.Val67Leu) n.7097G>C | |
5 | g.90692734G>T | CA360371690 | ADGRV1 | c.7081G>T (p.Val2361Phe) c.265+16525G>T (n.265+16525G>T) n.2540G>T c.888G>T n.225G>T c.4372G>T (p.Val1458Phe) c.1810G>T n.7094G>T c.7078G>T (p.Val2360Phe) c.7000G>T (p.Val2334Phe) c.4384G>T (p.Val1462Phe) c.6985G>T (p.Val2329Phe) c.199G>T (p.Val67Phe) n.7097G>T | |
5 | g.90692735T>A | CA360371694 | ADGRV1 | c.7082T>A (p.Val2361Asp) c.265+16526T>A (n.265+16526T>A) n.2541T>A c.889T>A n.226T>A c.4373T>A (p.Val1458Asp) c.1811T>A n.7095T>A c.7079T>A (p.Val2360Asp) c.7001T>A (p.Val2334Asp) c.4385T>A (p.Val1462Asp) c.6986T>A (p.Val2329Asp) c.200T>A (p.Val67Asp) n.7098T>A | dbSNP |
5 | g.90692735T>C | CA360371697 | ADGRV1 | c.7082T>C (p.Val2361Ala) c.265+16526T>C (n.265+16526T>C) n.2541T>C c.889T>C n.226T>C c.4373T>C (p.Val1458Ala) c.1811T>C n.7095T>C c.7079T>C (p.Val2360Ala) c.7001T>C (p.Val2334Ala) c.4385T>C (p.Val1462Ala) c.6986T>C (p.Val2329Ala) c.200T>C (p.Val67Ala) n.7098T>C | |
5 | g.90692735T>G | CA360371700 | ADGRV1 | c.7082T>G (p.Val2361Gly) c.265+16526T>G (n.265+16526T>G) n.2541T>G c.889T>G n.226T>G c.4373T>G (p.Val1458Gly) c.1811T>G n.7095T>G c.7079T>G (p.Val2360Gly) c.7001T>G (p.Val2334Gly) c.4385T>G (p.Val1462Gly) c.6986T>G (p.Val2329Gly) c.200T>G (p.Val67Gly) n.7098T>G | |
5 | g.90692735T= | CA1562859311 | ADGRV1 | c.7082T= (p.Val2361=) c.265+16526T= (n.265+16526T=) n.2541T= c.889T= n.226T= c.4373T= (p.Val1458=) c.1811T= n.7095T= c.7079T= (p.Val2360=) c.7001T= (p.Val2334=) c.4385T= (p.Val1462=) c.6986T= (p.Val2329=) c.200T= (p.Val67=) n.7098T= | |
5 | g.90692736T>A | CA445404553 | ADGRV1 | c.7083T>A (p.Val2361=) c.265+16527T>A (n.265+16527T>A) n.2542T>A c.890T>A n.227T>A c.4374T>A (p.Val1458=) c.1812T>A n.7096T>A c.7080T>A (p.Val2360=) c.7002T>A (p.Val2334=) c.4386T>A (p.Val1462=) c.6987T>A (p.Val2329=) c.201T>A (p.Val67=) n.7099T>A | |
5 | g.90692736T>C | CA445404554 | ADGRV1 | c.7083T>C (p.Val2361=) c.265+16527T>C (n.265+16527T>C) n.2542T>C c.890T>C n.227T>C c.4374T>C (p.Val1458=) c.1812T>C n.7096T>C c.7080T>C (p.Val2360=) c.7002T>C (p.Val2334=) c.4386T>C (p.Val1462=) c.6987T>C (p.Val2329=) c.201T>C (p.Val67=) n.7099T>C | |
5 | g.90692736T>G | CA445404555 | ADGRV1 | c.7083T>G (p.Val2361=) c.265+16527T>G (n.265+16527T>G) n.2542T>G c.890T>G n.227T>G c.4374T>G (p.Val1458=) c.1812T>G n.7096T>G c.7080T>G (p.Val2360=) c.7002T>G (p.Val2334=) c.4386T>G (p.Val1462=) c.6987T>G (p.Val2329=) c.201T>G (p.Val67=) n.7099T>G | |
5 | g.90692737C>A | CA360371710 | ADGRV1 | c.7084C>A (p.Gln2362Lys) c.265+16528C>A (n.265+16528C>A) n.2543C>A c.891C>A n.228C>A c.4375C>A (p.Gln1459Lys) c.1813C>A n.7097C>A c.7081C>A (p.Gln2361Lys) c.7003C>A (p.Gln2335Lys) c.4387C>A (p.Gln1463Lys) c.6988C>A (p.Gln2330Lys) c.202C>A (p.Gln68Lys) n.7100C>A | |
5 | g.90692737C>G | CA360371704 | ADGRV1 | c.7084C>G (p.Gln2362Glu) c.265+16528C>G (n.265+16528C>G) n.2543C>G c.891C>G n.228C>G c.4375C>G (p.Gln1459Glu) c.1813C>G n.7097C>G c.7081C>G (p.Gln2361Glu) c.7003C>G (p.Gln2335Glu) c.4387C>G (p.Gln1463Glu) c.6988C>G (p.Gln2330Glu) c.202C>G (p.Gln68Glu) n.7100C>G | |
5 | g.90692737C>T | CA360371707 | ADGRV1 | c.7084C>T (p.Gln2362Ter) c.265+16528C>T (n.265+16528C>T) n.2543C>T c.891C>T n.228C>T c.4375C>T (p.Gln1459Ter) c.1813C>T n.7097C>T c.7081C>T (p.Gln2361Ter) c.7003C>T (p.Gln2335Ter) c.4387C>T (p.Gln1463Ter) c.6988C>T (p.Gln2330Ter) c.202C>T (p.Gln68Ter) n.7100C>T | gnomAD v4 |
5 | g.90692738A= | CA1562859312 | ADGRV1 | c.7085A= (p.Gln2362=) c.265+16529A= (n.265+16529A=) n.2544A= c.892A= n.229A= c.4376A= (p.Gln1459=) c.1814A= n.7098A= c.7082A= (p.Gln2361=) c.7004A= (p.Gln2335=) c.4388A= (p.Gln1463=) c.6989A= (p.Gln2330=) c.203A= (p.Gln68=) n.7101A= | |
5 | g.90692738A>C | CA360371711 | ADGRV1 | c.7085A>C (p.Gln2362Pro) c.265+16529A>C (n.265+16529A>C) n.2544A>C c.892A>C n.229A>C c.4376A>C (p.Gln1459Pro) c.1814A>C n.7098A>C c.7082A>C (p.Gln2361Pro) c.7004A>C (p.Gln2335Pro) c.4388A>C (p.Gln1463Pro) c.6989A>C (p.Gln2330Pro) c.203A>C (p.Gln68Pro) n.7101A>C | |
5 | g.90692738A>G | CA122797191 | ADGRV1 | c.7085A>G (p.Gln2362Arg) c.265+16529A>G (n.265+16529A>G) n.2544A>G c.892A>G n.229A>G c.4376A>G (p.Gln1459Arg) c.1814A>G n.7098A>G c.7082A>G (p.Gln2361Arg) c.7004A>G (p.Gln2335Arg) c.4388A>G (p.Gln1463Arg) c.6989A>G (p.Gln2330Arg) c.203A>G (p.Gln68Arg) n.7101A>G | dbSNP |
5 | g.90692738A>T | CA360371715 | ADGRV1 | c.7085A>T (p.Gln2362Leu) c.265+16529A>T (n.265+16529A>T) n.2544A>T c.892A>T n.229A>T c.4376A>T (p.Gln1459Leu) c.1814A>T n.7098A>T c.7082A>T (p.Gln2361Leu) c.7004A>T (p.Gln2335Leu) c.4388A>T (p.Gln1463Leu) c.6989A>T (p.Gln2330Leu) c.203A>T (p.Gln68Leu) n.7101A>T | |
5 | g.90692739A>C | CA360371722 | ADGRV1 | c.7086A>C (p.Gln2362His) c.265+16530A>C (n.265+16530A>C) n.2545A>C c.893A>C n.230A>C c.4377A>C (p.Gln1459His) c.1815A>C n.7099A>C c.7083A>C (p.Gln2361His) c.7005A>C (p.Gln2335His) c.4389A>C (p.Gln1463His) c.6990A>C (p.Gln2330His) c.204A>C (p.Gln68His) n.7102A>C | |
5 | g.90692739A>G | CA445404558 | ADGRV1 | c.7086A>G (p.Gln2362=) c.265+16530A>G (n.265+16530A>G) n.2545A>G c.893A>G n.230A>G c.4377A>G (p.Gln1459=) c.1815A>G n.7099A>G c.7083A>G (p.Gln2361=) c.7005A>G (p.Gln2335=) c.4389A>G (p.Gln1463=) c.6990A>G (p.Gln2330=) c.204A>G (p.Gln68=) n.7102A>G | |
5 | g.90692739A>T | CA360371729 | ADGRV1 | c.7086A>T (p.Gln2362His) c.265+16530A>T (n.265+16530A>T) n.2545A>T c.893A>T n.230A>T c.4377A>T (p.Gln1459His) c.1815A>T n.7099A>T c.7083A>T (p.Gln2361His) c.7005A>T (p.Gln2335His) c.4389A>T (p.Gln1463His) c.6990A>T (p.Gln2330His) c.204A>T (p.Gln68His) n.7102A>T | |
5 | g.90692740G>A | CA360371738 | ADGRV1 | c.7087G>A (p.Glu2363Lys) c.265+16531G>A (n.265+16531G>A) n.2546G>A c.894G>A n.231G>A c.4378G>A (p.Glu1460Lys) c.1816G>A n.7100G>A c.7084G>A (p.Glu2362Lys) c.7006G>A (p.Glu2336Lys) c.4390G>A (p.Glu1464Lys) c.6991G>A (p.Glu2331Lys) c.205G>A (p.Glu69Lys) n.7103G>A | gnomAD v4 |
5 | g.90692740G>C | CA360371732 | ADGRV1 | c.7087G>C (p.Glu2363Gln) c.265+16531G>C (n.265+16531G>C) n.2546G>C c.894G>C n.231G>C c.4378G>C (p.Glu1460Gln) c.1816G>C n.7100G>C c.7084G>C (p.Glu2362Gln) c.7006G>C (p.Glu2336Gln) c.4390G>C (p.Glu1464Gln) c.6991G>C (p.Glu2331Gln) c.205G>C (p.Glu69Gln) n.7103G>C | ClinVar gnomAD v4 |
5 | g.90692740G>T | CA360371734 | ADGRV1 | c.7087G>T (p.Glu2363Ter) c.265+16531G>T (n.265+16531G>T) n.2546G>T c.894G>T n.231G>T c.4378G>T (p.Glu1460Ter) c.1816G>T n.7100G>T c.7084G>T (p.Glu2362Ter) c.7006G>T (p.Glu2336Ter) c.4390G>T (p.Glu1464Ter) c.6991G>T (p.Glu2331Ter) c.205G>T (p.Glu69Ter) n.7103G>T | |
5 | g.90692741A>C | CA360371741 | ADGRV1 | c.7088A>C (p.Glu2363Ala) c.265+16532A>C (n.265+16532A>C) n.2547A>C c.895A>C n.232A>C c.4379A>C (p.Glu1460Ala) c.1817A>C n.7101A>C c.7085A>C (p.Glu2362Ala) c.7007A>C (p.Glu2336Ala) c.4391A>C (p.Glu1464Ala) c.6992A>C (p.Glu2331Ala) c.206A>C (p.Glu69Ala) n.7104A>C | |
5 | g.90692741A>G | CA360371743 | ADGRV1 | c.7088A>G (p.Glu2363Gly) c.265+16532A>G (n.265+16532A>G) n.2547A>G c.895A>G n.232A>G c.4379A>G (p.Glu1460Gly) c.1817A>G n.7101A>G c.7085A>G (p.Glu2362Gly) c.7007A>G (p.Glu2336Gly) c.4391A>G (p.Glu1464Gly) c.6992A>G (p.Glu2331Gly) c.206A>G (p.Glu69Gly) n.7104A>G | gnomAD v4 |
5 | g.90692741A>T | CA360371747 | ADGRV1 | c.7088A>T (p.Glu2363Val) c.265+16532A>T (n.265+16532A>T) n.2547A>T c.895A>T n.232A>T c.4379A>T (p.Glu1460Val) c.1817A>T n.7101A>T c.7085A>T (p.Glu2362Val) c.7007A>T (p.Glu2336Val) c.4391A>T (p.Glu1464Val) c.6992A>T (p.Glu2331Val) c.206A>T (p.Glu69Val) n.7104A>T | |
5 | g.90692742G>A | CA445404560 | ADGRV1 | c.7089G>A (p.Glu2363=) c.265+16533G>A (n.265+16533G>A) n.2548G>A c.896G>A n.233G>A c.4380G>A (p.Glu1460=) c.1818G>A n.7102G>A c.7086G>A (p.Glu2362=) c.7008G>A (p.Glu2336=) c.4392G>A (p.Glu1464=) c.6993G>A (p.Glu2331=) c.207G>A (p.Glu69=) n.7105G>A | gnomAD v4 |
5 | g.90692742G>C | CA360371748 | ADGRV1 | c.7089G>C (p.Glu2363Asp) c.265+16533G>C (n.265+16533G>C) n.2548G>C c.896G>C n.233G>C c.4380G>C (p.Glu1460Asp) c.1818G>C n.7102G>C c.7086G>C (p.Glu2362Asp) c.7008G>C (p.Glu2336Asp) c.4392G>C (p.Glu1464Asp) c.6993G>C (p.Glu2331Asp) c.207G>C (p.Glu69Asp) n.7105G>C | |
5 | g.90692742G>T | CA360371749 | ADGRV1 | c.7089G>T (p.Glu2363Asp) c.265+16533G>T (n.265+16533G>T) n.2548G>T c.896G>T n.233G>T c.4380G>T (p.Glu1460Asp) c.1818G>T n.7102G>T c.7086G>T (p.Glu2362Asp) c.7008G>T (p.Glu2336Asp) c.4392G>T (p.Glu1464Asp) c.6993G>T (p.Glu2331Asp) c.207G>T (p.Glu69Asp) n.7105G>T | |
5 | g.90692743C>A | CA360371752 | ADGRV1 | c.7090C>A (p.Pro2364Thr) c.265+16534C>A (n.265+16534C>A) n.2549C>A c.897C>A n.234C>A c.4381C>A (p.Pro1461Thr) c.1819C>A n.7103C>A c.7087C>A (p.Pro2363Thr) c.7009C>A (p.Pro2337Thr) c.4393C>A (p.Pro1465Thr) c.6994C>A (p.Pro2332Thr) c.208C>A (p.Pro70Thr) n.7106C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90692743C= | CA1562859313 | ADGRV1 | c.7090C= (p.Pro2364=) c.265+16534C= (n.265+16534C=) n.2549C= c.897C= n.234C= c.4381C= (p.Pro1461=) c.1819C= n.7103C= c.7087C= (p.Pro2363=) c.7009C= (p.Pro2337=) c.4393C= (p.Pro1465=) c.6994C= (p.Pro2332=) c.208C= (p.Pro70=) n.7106C= | |
5 | g.90692743C>G | CA360371754 | ADGRV1 | c.7090C>G (p.Pro2364Ala) c.265+16534C>G (n.265+16534C>G) n.2549C>G c.897C>G n.234C>G c.4381C>G (p.Pro1461Ala) c.1819C>G n.7103C>G c.7087C>G (p.Pro2363Ala) c.7009C>G (p.Pro2337Ala) c.4393C>G (p.Pro1465Ala) c.6994C>G (p.Pro2332Ala) c.208C>G (p.Pro70Ala) n.7106C>G | |
5 | g.90692743C>T | CA360371758 | ADGRV1 | c.7090C>T (p.Pro2364Ser) c.265+16534C>T (n.265+16534C>T) n.2549C>T c.897C>T n.234C>T c.4381C>T (p.Pro1461Ser) c.1819C>T n.7103C>T c.7087C>T (p.Pro2363Ser) c.7009C>T (p.Pro2337Ser) c.4393C>T (p.Pro1465Ser) c.6994C>T (p.Pro2332Ser) c.208C>T (p.Pro70Ser) n.7106C>T | gnomAD v4 |
5 | g.90692744C>A | CA360371763 | ADGRV1 | c.7091C>A (p.Pro2364His) c.265+16535C>A (n.265+16535C>A) n.2550C>A c.898C>A n.235C>A c.4382C>A (p.Pro1461His) c.1820C>A n.7104C>A c.7088C>A (p.Pro2363His) c.7010C>A (p.Pro2337His) c.4394C>A (p.Pro1465His) c.6995C>A (p.Pro2332His) c.209C>A (p.Pro70His) n.7107C>A | |
5 | g.90692744C>G | CA360371767 | ADGRV1 | c.7091C>G (p.Pro2364Arg) c.265+16535C>G (n.265+16535C>G) n.2550C>G c.898C>G n.235C>G c.4382C>G (p.Pro1461Arg) c.1820C>G n.7104C>G c.7088C>G (p.Pro2363Arg) c.7010C>G (p.Pro2337Arg) c.4394C>G (p.Pro1465Arg) c.6995C>G (p.Pro2332Arg) c.209C>G (p.Pro70Arg) n.7107C>G | |
5 | g.90692744C>T | CA360371768 | ADGRV1 | c.7091C>T (p.Pro2364Leu) c.265+16535C>T (n.265+16535C>T) n.2550C>T c.898C>T n.235C>T c.4382C>T (p.Pro1461Leu) c.1820C>T n.7104C>T c.7088C>T (p.Pro2363Leu) c.7010C>T (p.Pro2337Leu) c.4394C>T (p.Pro1465Leu) c.6995C>T (p.Pro2332Leu) c.209C>T (p.Pro70Leu) n.7107C>T | |
5 | g.90692745T>A | CA445404566 | ADGRV1 | c.7092T>A (p.Pro2364=) c.265+16536T>A (n.265+16536T>A) n.2551T>A c.899T>A n.236T>A c.4383T>A (p.Pro1461=) c.1821T>A n.7105T>A c.7089T>A (p.Pro2363=) c.7011T>A (p.Pro2337=) c.4395T>A (p.Pro1465=) c.6996T>A (p.Pro2332=) c.210T>A (p.Pro70=) n.7108T>A | dbSNP |
5 | g.90692745T>C | CA445404567 | ADGRV1 | c.7092T>C (p.Pro2364=) c.265+16536T>C (n.265+16536T>C) n.2551T>C c.899T>C n.236T>C c.4383T>C (p.Pro1461=) c.1821T>C n.7105T>C c.7089T>C (p.Pro2363=) c.7011T>C (p.Pro2337=) c.4395T>C (p.Pro1465=) c.6996T>C (p.Pro2332=) c.210T>C (p.Pro70=) n.7108T>C | gnomAD v4 |
5 | g.90692745T>G | CA445404569 | ADGRV1 | c.7092T>G (p.Pro2364=) c.265+16536T>G (n.265+16536T>G) n.2551T>G c.899T>G n.236T>G c.4383T>G (p.Pro1461=) c.1821T>G n.7105T>G c.7089T>G (p.Pro2363=) c.7011T>G (p.Pro2337=) c.4395T>G (p.Pro1465=) c.6996T>G (p.Pro2332=) c.210T>G (p.Pro70=) n.7108T>G | |
5 | g.90692745T= | CA1562859314 | ADGRV1 | c.7092T= (p.Pro2364=) c.265+16536T= (n.265+16536T=) n.2551T= c.899T= n.236T= c.4383T= (p.Pro1461=) c.1821T= n.7105T= c.7089T= (p.Pro2363=) c.7011T= (p.Pro2337=) c.4395T= (p.Pro1465=) c.6996T= (p.Pro2332=) c.210T= (p.Pro70=) n.7108T= | |
5 | g.90692746C>A | CA360371769 | ADGRV1 | c.7093C>A (p.Leu2365Met) c.265+16537C>A (n.265+16537C>A) n.2552C>A c.900C>A n.237C>A c.4384C>A (p.Leu1462Met) c.1822C>A n.7106C>A c.7090C>A (p.Leu2364Met) c.7012C>A (p.Leu2338Met) c.4396C>A (p.Leu1466Met) c.6997C>A (p.Leu2333Met) c.211C>A (p.Leu71Met) n.7109C>A |