| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57654035_57654036delinsGA | CA2224711709 | ADGRG1 | c.670_671delinsGA (p.Asp224=) n.705_706delinsGA c.685_686delinsGA (p.Asp229=) c.*333_*334delinsGA (n.*333_*334delinsGA) c.155_156delinsGA n.593_594delinsGA c.160_161delinsGA (p.Asp54=) c.145_146delinsGA (p.Asp49=) c.514_515delinsGA (p.Asp172=) | |
| 16 | g.57654036del | CA16043018 | ADGRG1 | c.671del (p.Asp224AlafsTer?) n.706del c.686del (p.Asp229AlafsTer?) c.*334del (n.*334del) c.156del n.594del c.161del (p.Asp54AlafsTer?) c.146del (p.Asp49AlafsTer?) c.515del (p.Asp172AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.57654036A>C | CA396046440 | ADGRG1 | c.671A>C (p.Asp224Ala) n.706A>C c.686A>C (p.Asp229Ala) c.*334A>C (n.*334A>C) c.156A>C n.594A>C c.161A>C (p.Asp54Ala) c.146A>C (p.Asp49Ala) c.515A>C (p.Asp172Ala) | |
| 16 | g.57654036A>G | CA396046441 | ADGRG1 | c.671A>G (p.Asp224Gly) n.706A>G c.686A>G (p.Asp229Gly) c.*334A>G (n.*334A>G) c.156A>G n.594A>G c.161A>G (p.Asp54Gly) c.146A>G (p.Asp49Gly) c.515A>G (p.Asp172Gly) | |
| 16 | g.57654036A>T | CA396046442 | ADGRG1 | c.671A>T (p.Asp224Val) n.706A>T c.686A>T (p.Asp229Val) c.*334A>T (n.*334A>T) c.156A>T n.594A>T c.161A>T (p.Asp54Val) c.146A>T (p.Asp49Val) c.515A>T (p.Asp172Val) | |
| 16 | g.57654037del | CA495636209 | ADGRG1 | c.672del (p.Asp224GlufsTer?) n.707del c.687del (p.Asp229GlufsTer?) c.*335del (n.*335del) c.157del n.595del c.162del (p.Asp54GlufsTer?) c.147del (p.Asp49GlufsTer?) c.516del (p.Asp172GlufsTer?) | gnomAD v4 |
| 16 | g.57654037C>A | CA396046448 | ADGRG1 | c.672C>A (p.Asp224Glu) n.707C>A c.687C>A (p.Asp229Glu) c.*335C>A (n.*335C>A) c.157C>A n.595C>A c.162C>A (p.Asp54Glu) c.147C>A (p.Asp49Glu) c.516C>A (p.Asp172Glu) | |
| 16 | g.57654037C= | CA2224711724 | ADGRG1 | c.672C= (p.Asp224=) n.707C= c.687C= (p.Asp229=) c.*335C= (n.*335C=) c.157C= n.595C= c.162C= (p.Asp54=) c.147C= (p.Asp49=) c.516C= (p.Asp172=) | |
| 16 | g.57654037C>G | CA396046447 | ADGRG1 | c.672C>G (p.Asp224Glu) n.707C>G c.687C>G (p.Asp229Glu) c.*335C>G (n.*335C>G) c.157C>G n.595C>G c.162C>G (p.Asp54Glu) c.147C>G (p.Asp49Glu) c.516C>G (p.Asp172Glu) | |
| 16 | g.57654037C>T | CA495636208 | ADGRG1 | c.672C>T (p.Asp224=) n.707C>T c.687C>T (p.Asp229=) c.*335C>T (n.*335C>T) c.157C>T n.595C>T c.162C>T (p.Asp54=) c.147C>T (p.Asp49=) c.516C>T (p.Asp172=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57654038A= | CA2224711730 | ADGRG1 | c.673A= (p.Met225=) n.708A= c.688A= (p.Met230=) c.*336A= (n.*336A=) c.158A= n.596A= c.163A= (p.Met55=) c.148A= (p.Met50=) c.517A= (p.Met173=) | |
| 16 | g.57654038A>C | CA396046450 | ADGRG1 | c.673A>C (p.Met225Leu) n.708A>C c.688A>C (p.Met230Leu) c.*336A>C (n.*336A>C) c.158A>C n.596A>C c.163A>C (p.Met55Leu) c.148A>C (p.Met50Leu) c.517A>C (p.Met173Leu) | |
| 16 | g.57654038A>G | CA396046451 | ADGRG1 | c.673A>G (p.Met225Val) n.708A>G c.688A>G (p.Met230Val) c.*336A>G (n.*336A>G) c.158A>G n.596A>G c.163A>G (p.Met55Val) c.148A>G (p.Met50Val) c.517A>G (p.Met173Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.57654038A>T | CA396046452 | ADGRG1 | c.673A>T (p.Met225Leu) n.708A>T c.688A>T (p.Met230Leu) c.*336A>T (n.*336A>T) c.158A>T n.596A>T c.163A>T (p.Met55Leu) c.148A>T (p.Met50Leu) c.517A>T (p.Met173Leu) | |
| 16 | g.57654039T>A | CA396046454 | ADGRG1 | c.674T>A (p.Met225Lys) n.709T>A c.689T>A (p.Met230Lys) c.*337T>A (n.*337T>A) c.159T>A n.597T>A c.164T>A (p.Met55Lys) c.149T>A (p.Met50Lys) c.518T>A (p.Met173Lys) | dbSNP gnomAD v4 |
| 16 | g.57654039T>C | CA396046456 | ADGRG1 | c.674T>C (p.Met225Thr) n.709T>C c.689T>C (p.Met230Thr) c.*337T>C (n.*337T>C) c.159T>C n.597T>C c.164T>C (p.Met55Thr) c.149T>C (p.Met50Thr) c.518T>C (p.Met173Thr) | dbSNP |
| 16 | g.57654039T>G | CA396046458 | ADGRG1 | c.674T>G (p.Met225Arg) n.709T>G c.689T>G (p.Met230Arg) c.*337T>G (n.*337T>G) c.159T>G n.597T>G c.164T>G (p.Met55Arg) c.149T>G (p.Met50Arg) c.518T>G (p.Met173Arg) | |
| 16 | g.57654039T= | CA2224711731 | ADGRG1 | c.674T= (p.Met225=) n.709T= c.689T= (p.Met230=) c.*337T= (n.*337T=) c.159T= n.597T= c.164T= (p.Met55=) c.149T= (p.Met50=) c.518T= (p.Met173=) | |
| 16 | g.57654040G>A | CA396046459 | ADGRG1 | c.675G>A (p.Met225Ile) n.710G>A c.690G>A (p.Met230Ile) c.*338G>A (n.*338G>A) c.160G>A n.598G>A c.165G>A (p.Met55Ile) c.150G>A (p.Met50Ile) c.519G>A (p.Met173Ile) | |
| 16 | g.57654040G>C | CA396046462 | ADGRG1 | c.675G>C (p.Met225Ile) n.710G>C c.690G>C (p.Met230Ile) c.*338G>C (n.*338G>C) c.160G>C n.598G>C c.165G>C (p.Met55Ile) c.150G>C (p.Met50Ile) c.519G>C (p.Met173Ile) | |
| 16 | g.57654040G>T | CA396046461 | ADGRG1 | c.675G>T (p.Met225Ile) n.710G>T c.690G>T (p.Met230Ile) c.*338G>T (n.*338G>T) c.160G>T n.598G>T c.165G>T (p.Met55Ile) c.150G>T (p.Met50Ile) c.519G>T (p.Met173Ile) | |
| 16 | g.57654041G>A | CA396046464 | ADGRG1 | c.676G>A (p.Val226Met) n.711G>A c.691G>A (p.Val231Met) c.*339G>A (n.*339G>A) c.161G>A n.599G>A c.166G>A (p.Val56Met) c.151G>A (p.Val51Met) c.520G>A (p.Val174Met) | |
| 16 | g.57654041G>C | CA396046465 | ADGRG1 | c.676G>C (p.Val226Leu) n.711G>C c.691G>C (p.Val231Leu) c.*339G>C (n.*339G>C) c.161G>C n.599G>C c.166G>C (p.Val56Leu) c.151G>C (p.Val51Leu) c.520G>C (p.Val174Leu) | |
| 16 | g.57654041G>T | CA396046466 | ADGRG1 | c.676G>T (p.Val226Leu) n.711G>T c.691G>T (p.Val231Leu) c.*339G>T (n.*339G>T) c.161G>T n.599G>T c.166G>T (p.Val56Leu) c.151G>T (p.Val51Leu) c.520G>T (p.Val174Leu) | |
| 16 | g.57654042T>A | CA396046468 | ADGRG1 | c.677T>A (p.Val226Glu) n.712T>A c.692T>A (p.Val231Glu) c.*340T>A (n.*340T>A) c.162T>A n.600T>A c.167T>A (p.Val56Glu) c.152T>A (p.Val51Glu) c.521T>A (p.Val174Glu) | |
| 16 | g.57654042T>C | CA396046472 | ADGRG1 | c.677T>C (p.Val226Ala) n.712T>C c.692T>C (p.Val231Ala) c.*340T>C (n.*340T>C) c.162T>C n.600T>C c.167T>C (p.Val56Ala) c.152T>C (p.Val51Ala) c.521T>C (p.Val174Ala) | |
| 16 | g.57654042T>G | CA396046474 | ADGRG1 | c.677T>G (p.Val226Gly) n.712T>G c.692T>G (p.Val231Gly) c.*340T>G (n.*340T>G) c.162T>G n.600T>G c.167T>G (p.Val56Gly) c.152T>G (p.Val51Gly) c.521T>G (p.Val174Gly) | |
| 16 | g.57654043G>A | CA495636227 | ADGRG1 | c.678G>A (p.Val226=) n.713G>A c.693G>A (p.Val231=) c.*341G>A (n.*341G>A) c.163G>A n.601G>A c.168G>A (p.Val56=) c.153G>A (p.Val51=) c.522G>A (p.Val174=) | gnomAD v4 |
| 16 | g.57654043G>C | CA495636228 | ADGRG1 | c.678G>C (p.Val226=) n.713G>C c.693G>C (p.Val231=) c.*341G>C (n.*341G>C) c.163G>C n.601G>C c.168G>C (p.Val56=) c.153G>C (p.Val51=) c.522G>C (p.Val174=) | |
| 16 | g.57654043G>T | CA495636230 | ADGRG1 | c.678G>T (p.Val226=) n.713G>T c.693G>T (p.Val231=) c.*341G>T (n.*341G>T) c.163G>T n.601G>T c.168G>T (p.Val56=) c.153G>T (p.Val51=) c.522G>T (p.Val174=) | |
| 16 | g.57654044T>A | CA396046475 | ADGRG1 | c.679T>A (p.Ser227Thr) n.714T>A c.694T>A (p.Ser232Thr) c.*342T>A (n.*342T>A) c.164T>A n.602T>A c.169T>A (p.Ser57Thr) c.154T>A (p.Ser52Thr) c.523T>A (p.Ser175Thr) | |
| 16 | g.57654044T>C | CA396046476 | ADGRG1 | c.679T>C (p.Ser227Pro) n.714T>C c.694T>C (p.Ser232Pro) c.*342T>C (n.*342T>C) c.164T>C n.602T>C c.169T>C (p.Ser57Pro) c.154T>C (p.Ser52Pro) c.523T>C (p.Ser175Pro) | |
| 16 | g.57654044T>G | CA396046478 | ADGRG1 | c.679T>G (p.Ser227Ala) n.714T>G c.694T>G (p.Ser232Ala) c.*342T>G (n.*342T>G) c.164T>G n.602T>G c.169T>G (p.Ser57Ala) c.154T>G (p.Ser52Ala) c.523T>G (p.Ser175Ala) | |
| 16 | g.57654045C>A | CA396046480 | ADGRG1 | c.680C>A (p.Ser227Tyr) n.715C>A c.695C>A (p.Ser232Tyr) c.*343C>A (n.*343C>A) c.165C>A c.170C>A (p.Ser57Tyr) c.155C>A (p.Ser52Tyr) c.524C>A (p.Ser175Tyr) | dbSNP |
| 16 | g.57654045C= | CA2224711734 | ADGRG1 | c.680C= (p.Ser227=) n.715C= c.695C= (p.Ser232=) c.*343C= (n.*343C=) c.165C= c.170C= (p.Ser57=) c.155C= (p.Ser52=) c.524C= (p.Ser175=) | |
| 16 | g.57654045C>G | CA396046483 | ADGRG1 | c.680C>G (p.Ser227Cys) n.715C>G c.695C>G (p.Ser232Cys) c.*343C>G (n.*343C>G) c.165C>G c.170C>G (p.Ser57Cys) c.155C>G (p.Ser52Cys) c.524C>G (p.Ser175Cys) | |
| 16 | g.57654045C>T | CA396046485 | ADGRG1 | c.680C>T (p.Ser227Phe) n.715C>T c.695C>T (p.Ser232Phe) c.*343C>T (n.*343C>T) c.165C>T c.170C>T (p.Ser57Phe) c.155C>T (p.Ser52Phe) c.524C>T (p.Ser175Phe) | |
| 16 | g.57654046C>A | CA495636240 | ADGRG1 | c.681C>A (p.Ser227=) n.716C>A c.696C>A (p.Ser232=) c.*344C>A (n.*344C>A) c.166C>A c.171C>A (p.Ser57=) c.156C>A (p.Ser52=) c.525C>A (p.Ser175=) | |
| 16 | g.57654046C>G | CA495636242 | ADGRG1 | c.681C>G (p.Ser227=) n.716C>G c.696C>G (p.Ser232=) c.*344C>G (n.*344C>G) c.166C>G c.171C>G (p.Ser57=) c.156C>G (p.Ser52=) c.525C>G (p.Ser175=) | |
| 16 | g.57654046C>T | CA495636243 | ADGRG1 | c.681C>T (p.Ser227=) n.716C>T c.696C>T (p.Ser232=) c.*344C>T (n.*344C>T) c.166C>T c.171C>T (p.Ser57=) c.156C>T (p.Ser52=) c.525C>T (p.Ser175=) | ClinVar dbSNP |
| 16 | g.57654047T>A | CA396046486 | ADGRG1 | c.682T>A (p.Phe228Ile) n.717T>A c.697T>A (p.Phe233Ile) c.*345T>A (n.*345T>A) c.167T>A c.172T>A (p.Phe58Ile) c.157T>A (p.Phe53Ile) c.526T>A (p.Phe176Ile) | |
| 16 | g.57654047T>C | CA396046489 | ADGRG1 | c.682T>C (p.Phe228Leu) n.717T>C c.697T>C (p.Phe233Leu) c.*345T>C (n.*345T>C) c.167T>C c.172T>C (p.Phe58Leu) c.157T>C (p.Phe53Leu) c.526T>C (p.Phe176Leu) | |
| 16 | g.57654047T>G | CA396046488 | ADGRG1 | c.682T>G (p.Phe228Val) n.717T>G c.697T>G (p.Phe233Val) c.*345T>G (n.*345T>G) c.167T>G c.172T>G (p.Phe58Val) c.157T>G (p.Phe53Val) c.526T>G (p.Phe176Val) | |
| 16 | g.57654048T>A | CA396046490 | ADGRG1 | c.683T>A (p.Phe228Tyr) n.718T>A c.698T>A (p.Phe233Tyr) c.*346T>A (n.*346T>A) c.168T>A c.173T>A (p.Phe58Tyr) c.158T>A (p.Phe53Tyr) c.527T>A (p.Phe176Tyr) | |
| 16 | g.57654048T>C | CA396046494 | ADGRG1 | c.683T>C (p.Phe228Ser) n.718T>C c.698T>C (p.Phe233Ser) c.*346T>C (n.*346T>C) c.168T>C c.173T>C (p.Phe58Ser) c.158T>C (p.Phe53Ser) c.527T>C (p.Phe176Ser) | |
| 16 | g.57654048T>G | CA396046492 | ADGRG1 | c.683T>G (p.Phe228Cys) n.718T>G c.698T>G (p.Phe233Cys) c.*346T>G (n.*346T>G) c.168T>G c.173T>G (p.Phe58Cys) c.158T>G (p.Phe53Cys) c.527T>G (p.Phe176Cys) | |
| 16 | g.57654049C>A | CA396046496 | ADGRG1 | c.684C>A (p.Phe228Leu) n.719C>A c.699C>A (p.Phe233Leu) c.*347C>A (n.*347C>A) c.169C>A c.174C>A (p.Phe58Leu) c.159C>A (p.Phe53Leu) c.528C>A (p.Phe176Leu) | dbSNP |
| 16 | g.57654049C= | CA2224711743 | ADGRG1 | c.684C= (p.Phe228=) n.719C= c.699C= (p.Phe233=) c.*347C= (n.*347C=) c.169C= c.174C= (p.Phe58=) c.159C= (p.Phe53=) c.528C= (p.Phe176=) | |
| 16 | g.57654049C>G | CA396046497 | ADGRG1 | c.684C>G (p.Phe228Leu) n.719C>G c.699C>G (p.Phe233Leu) c.*347C>G (n.*347C>G) c.169C>G c.174C>G (p.Phe58Leu) c.159C>G (p.Phe53Leu) c.528C>G (p.Phe176Leu) | |
| 16 | g.57654049C>T | CA8078474 | ADGRG1 | c.684C>T (p.Phe228=) n.719C>T c.699C>T (p.Phe233=) c.*347C>T (n.*347C>T) c.169C>T c.174C>T (p.Phe58=) c.159C>T (p.Phe53=) c.528C>T (p.Phe176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |