| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916218C>A | CA479811732 | ACVRL1 | c.961C>A (p.Arg321=) c.1231C>A (p.Arg411=) c.709C>A (p.Arg237=) n.506C>A c.1273C>A (p.Arg425=) c.236C>A c.442C>A (p.Arg148=) | |
| 12 | g.51916218C= | CA2036237134 | ACVRL1 | c.961C= (p.Arg321=) c.1231C= (p.Arg411=) c.709C= (p.Arg237=) n.506C= c.1273C= (p.Arg425=) c.236C= c.442C= (p.Arg148=) | |
| 12 | g.51916218C>G | CA384903028 | ACVRL1 | c.961C>G (p.Arg321Gly) c.1231C>G (p.Arg411Gly) c.709C>G (p.Arg237Gly) n.506C>G c.1273C>G (p.Arg425Gly) c.236C>G c.442C>G (p.Arg148Gly) | |
| 12 | g.51916218C>T | CA119402 | ACVRL1 | c.961C>T (p.Arg321Trp) c.1231C>T (p.Arg411Trp) c.709C>T (p.Arg237Trp) n.506C>T c.1273C>T (p.Arg425Trp) c.236C>T c.442C>T (p.Arg148Trp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51916218_51916237dup | CA916081673 | ACVRL1 | c.961_976+4dup c.1231_1246+4dup c.709_724+4dup n.506_521+4dup c.1273_1288+4dup c.236_251+4dup c.442_457+4dup | ClinVar dbSNP |
| 12 | g.51916219G>A | CA119395 | ACVRL1 | c.962G>A (p.Arg321Gln) c.1232G>A (p.Arg411Gln) c.710G>A (p.Arg237Gln) n.507G>A c.1274G>A (p.Arg425Gln) c.237G>A c.443G>A (p.Arg148Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916219G>C | CA119413 | ACVRL1 | c.962G>C (p.Arg321Pro) c.1232G>C (p.Arg411Pro) c.710G>C (p.Arg237Pro) n.507G>C c.1274G>C (p.Arg425Pro) c.237G>C c.443G>C (p.Arg148Pro) | ClinVar dbSNP |
| 12 | g.51916219G= | CA2036237141 | ACVRL1 | c.962G= (p.Arg321=) c.1232G= (p.Arg411=) c.710G= (p.Arg237=) n.507G= c.1274G= (p.Arg425=) c.237G= c.443G= (p.Arg148=) | |
| 12 | g.51916219G>T | CA384903038 | ACVRL1 | c.962G>T (p.Arg321Leu) c.1232G>T (p.Arg411Leu) c.710G>T (p.Arg237Leu) n.507G>T c.1274G>T (p.Arg425Leu) c.237G>T c.443G>T (p.Arg148Leu) | gnomAD v4 |
| 12 | g.51916220G>A | CA479811754 | ACVRL1 | c.963G>A (p.Arg321=) c.1233G>A (p.Arg411=) c.711G>A (p.Arg237=) n.508G>A c.1275G>A (p.Arg425=) c.238G>A c.444G>A (p.Arg148=) | |
| 12 | g.51916220G>C | CA479811750 | ACVRL1 | c.963G>C (p.Arg321=) c.1233G>C (p.Arg411=) c.711G>C (p.Arg237=) n.508G>C c.1275G>C (p.Arg425=) c.238G>C c.444G>C (p.Arg148=) | gnomAD v4 |
| 12 | g.51916220G>T | CA479811747 | ACVRL1 | c.963G>T (p.Arg321=) c.1233G>T (p.Arg411=) c.711G>T (p.Arg237=) n.508G>T c.1275G>T (p.Arg425=) c.238G>T c.444G>T (p.Arg148=) | |
| 12 | g.51916221A>C | CA384903043 | ACVRL1 | c.964A>C (p.Thr322Pro) c.1234A>C (p.Thr412Pro) c.712A>C (p.Thr238Pro) n.509A>C c.1276A>C (p.Thr426Pro) c.239A>C c.445A>C (p.Thr149Pro) | |
| 12 | g.51916221A>G | CA384903044 | ACVRL1 | c.964A>G (p.Thr322Ala) c.1234A>G (p.Thr412Ala) c.712A>G (p.Thr238Ala) n.509A>G c.1276A>G (p.Thr426Ala) c.239A>G c.445A>G (p.Thr149Ala) | |
| 12 | g.51916221A>T | CA384903041 | ACVRL1 | c.964A>T (p.Thr322Ser) c.1234A>T (p.Thr412Ser) c.712A>T (p.Thr238Ser) n.509A>T c.1276A>T (p.Thr426Ser) c.239A>T c.445A>T (p.Thr149Ser) | |
| 12 | g.51916222C>A | CA384903047 | ACVRL1 | c.965C>A (p.Thr322Asn) c.1235C>A (p.Thr412Asn) c.713C>A (p.Thr238Asn) n.510C>A c.1277C>A (p.Thr426Asn) c.240C>A c.446C>A (p.Thr149Asn) | ClinVar |
| 12 | g.51916222C>G | CA384903048 | ACVRL1 | c.965C>G (p.Thr322Ser) c.1235C>G (p.Thr412Ser) c.713C>G (p.Thr238Ser) n.510C>G c.1277C>G (p.Thr426Ser) c.240C>G c.446C>G (p.Thr149Ser) | |
| 12 | g.51916222C>T | CA384903050 | ACVRL1 | c.965C>T (p.Thr322Ile) c.1235C>T (p.Thr412Ile) c.713C>T (p.Thr238Ile) n.510C>T c.1277C>T (p.Thr426Ile) c.240C>T c.446C>T (p.Thr149Ile) | |
| 12 | g.51916223C>A | CA6573092 | ACVRL1 | c.966C>A (p.Thr322=) c.1236C>A (p.Thr412=) c.714C>A (p.Thr238=) n.511C>A c.1278C>A (p.Thr426=) c.241C>A c.447C>A (p.Thr149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916223C= | CA2036237153 | ACVRL1 | c.966C= (p.Thr322=) c.1236C= (p.Thr412=) c.714C= (p.Thr238=) n.511C= c.1278C= (p.Thr426=) c.241C= c.447C= (p.Thr149=) | |
| 12 | g.51916223C>G | CA479811772 | ACVRL1 | c.966C>G (p.Thr322=) c.1236C>G (p.Thr412=) c.714C>G (p.Thr238=) n.511C>G c.1278C>G (p.Thr426=) c.241C>G c.447C>G (p.Thr149=) | |
| 12 | g.51916223C>T | CA479811774 | ACVRL1 | c.966C>T (p.Thr322=) c.1236C>T (p.Thr412=) c.714C>T (p.Thr238=) n.511C>T c.1278C>T (p.Thr426=) c.241C>T c.447C>T (p.Thr149=) | |
| 12 | g.51916224A= | CA2036237156 | ACVRL1 | c.967A= (p.Ile323=) c.1237A= (p.Ile413=) c.715A= (p.Ile239=) n.512A= c.1279A= (p.Ile427=) c.242A= c.448A= (p.Ile150=) | |
| 12 | g.51916224A>C | CA384903051 | ACVRL1 | c.967A>C (p.Ile323Leu) c.1237A>C (p.Ile413Leu) c.715A>C (p.Ile239Leu) n.512A>C c.1279A>C (p.Ile427Leu) c.242A>C c.448A>C (p.Ile150Leu) | |
| 12 | g.51916224A>G | CA6573093 | ACVRL1 | c.967A>G (p.Ile323Val) c.1237A>G (p.Ile413Val) c.715A>G (p.Ile239Val) n.512A>G c.1279A>G (p.Ile427Val) c.242A>G c.448A>G (p.Ile150Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916224A>T | CA384903054 | ACVRL1 | c.967A>T (p.Ile323Phe) c.1237A>T (p.Ile413Phe) c.715A>T (p.Ile239Phe) n.512A>T c.1279A>T (p.Ile427Phe) c.242A>T c.448A>T (p.Ile150Phe) | |
| 12 | g.51916225T>A | CA384903055 | ACVRL1 | c.968T>A (p.Ile323Asn) c.1238T>A (p.Ile413Asn) c.716T>A (p.Ile239Asn) n.513T>A c.1280T>A (p.Ile427Asn) c.243T>A c.449T>A (p.Ile150Asn) | |
| 12 | g.51916225T>C | CA384903058 | ACVRL1 | c.968T>C (p.Ile323Thr) c.1238T>C (p.Ile413Thr) c.716T>C (p.Ile239Thr) n.513T>C c.1280T>C (p.Ile427Thr) c.243T>C c.449T>C (p.Ile150Thr) | |
| 12 | g.51916225T>G | CA384903057 | ACVRL1 | c.968T>G (p.Ile323Ser) c.1238T>G (p.Ile413Ser) c.716T>G (p.Ile239Ser) n.513T>G c.1280T>G (p.Ile427Ser) c.243T>G c.449T>G (p.Ile150Ser) | |
| 12 | g.51916226C>A | CA479811795 | ACVRL1 | c.969C>A (p.Ile323=) c.1239C>A (p.Ile413=) c.717C>A (p.Ile239=) n.514C>A c.1281C>A (p.Ile427=) c.244C>A c.450C>A (p.Ile150=) | |
| 12 | g.51916226C= | CA2036237161 | ACVRL1 | c.969C= (p.Ile323=) c.1239C= (p.Ile413=) c.717C= (p.Ile239=) n.514C= c.1281C= (p.Ile427=) c.244C= c.450C= (p.Ile150=) | |
| 12 | g.51916226C>G | CA384903060 | ACVRL1 | c.969C>G (p.Ile323Met) c.1239C>G (p.Ile413Met) c.717C>G (p.Ile239Met) n.514C>G c.1281C>G (p.Ile427Met) c.244C>G c.450C>G (p.Ile150Met) | |
| 12 | g.51916226C>T | CA6573094 | ACVRL1 | c.969C>T (p.Ile323=) c.1239C>T (p.Ile413=) c.717C>T (p.Ile239=) n.514C>T c.1281C>T (p.Ile427=) c.244C>T c.450C>T (p.Ile150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916227G>A | CA6573095 | ACVRL1 | c.970G>A (p.Val324Met) c.1240G>A (p.Val414Met) c.718G>A (p.Val240Met) n.515G>A c.1282G>A (p.Val428Met) c.245G>A c.451G>A (p.Val151Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916227G>C | CA384903062 | ACVRL1 | c.970G>C (p.Val324Leu) c.1240G>C (p.Val414Leu) c.718G>C (p.Val240Leu) n.515G>C c.1282G>C (p.Val428Leu) c.245G>C c.451G>C (p.Val151Leu) | |
| 12 | g.51916227G= | CA2036237167 | ACVRL1 | c.970G= (p.Val324=) c.1240G= (p.Val414=) c.718G= (p.Val240=) n.515G= c.1282G= (p.Val428=) c.245G= c.451G= (p.Val151=) | |
| 12 | g.51916227G>T | CA384903063 | ACVRL1 | c.970G>T (p.Val324Leu) c.1240G>T (p.Val414Leu) c.718G>T (p.Val240Leu) n.515G>T c.1282G>T (p.Val428Leu) c.245G>T c.451G>T (p.Val151Leu) | |
| 12 | g.51916228T>A | CA384903066 | ACVRL1 | c.971T>A (p.Val324Glu) c.1241T>A (p.Val414Glu) c.719T>A (p.Val240Glu) n.516T>A c.1283T>A (p.Val428Glu) c.246T>A c.452T>A (p.Val151Glu) | |
| 12 | g.51916228T>C | CA384903067 | ACVRL1 | c.971T>C (p.Val324Ala) c.1241T>C (p.Val414Ala) c.719T>C (p.Val240Ala) n.516T>C c.1283T>C (p.Val428Ala) c.246T>C c.452T>C (p.Val151Ala) | |
| 12 | g.51916228T>G | CA384903065 | ACVRL1 | c.971T>G (p.Val324Gly) c.1241T>G (p.Val414Gly) c.719T>G (p.Val240Gly) n.516T>G c.1283T>G (p.Val428Gly) c.246T>G c.452T>G (p.Val151Gly) | |
| 12 | g.51916229G>A | CA479811823 | ACVRL1 | c.972G>A (p.Val324=) c.1242G>A (p.Val414=) c.720G>A (p.Val240=) n.517G>A c.1284G>A (p.Val428=) c.247G>A c.453G>A (p.Val151=) | |
| 12 | g.51916229G>C | CA479811826 | ACVRL1 | c.972G>C (p.Val324=) c.1242G>C (p.Val414=) c.720G>C (p.Val240=) n.517G>C c.1284G>C (p.Val428=) c.247G>C c.453G>C (p.Val151=) | |
| 12 | g.51916229G>T | CA479811829 | ACVRL1 | c.972G>T (p.Val324=) c.1242G>T (p.Val414=) c.720G>T (p.Val240=) n.517G>T c.1284G>T (p.Val428=) c.247G>T c.453G>T (p.Val151=) | |
| 12 | g.51916230A>C | CA384903069 | ACVRL1 | c.973A>C (p.Asn325His) c.1243A>C (p.Asn415His) c.721A>C (p.Asn241His) n.518A>C c.1285A>C (p.Asn429His) c.248A>C c.454A>C (p.Asn152His) | |
| 12 | g.51916230A>G | CA384903068 | ACVRL1 | c.973A>G (p.Asn325Asp) c.1243A>G (p.Asn415Asp) c.721A>G (p.Asn241Asp) n.518A>G c.1285A>G (p.Asn429Asp) c.248A>G c.454A>G (p.Asn152Asp) | |
| 12 | g.51916230A>T | CA384903070 | ACVRL1 | c.973A>T (p.Asn325Tyr) c.1243A>T (p.Asn415Tyr) c.721A>T (p.Asn241Tyr) n.518A>T c.1285A>T (p.Asn429Tyr) c.248A>T c.454A>T (p.Asn152Tyr) | |
| 12 | g.51916231A= | CA2036237173 | ACVRL1 | c.974A= (p.Asn325=) c.1244A= (p.Asn415=) c.722A= (p.Asn241=) n.519A= c.1286A= (p.Asn429=) c.249A= c.455A= (p.Asn152=) | |
| 12 | g.51916231A>C | CA384903072 | ACVRL1 | c.974A>C (p.Asn325Thr) c.1244A>C (p.Asn415Thr) c.722A>C (p.Asn241Thr) n.519A>C c.1286A>C (p.Asn429Thr) c.249A>C c.455A>C (p.Asn152Thr) | |
| 12 | g.51916231A>G | CA384903076 | ACVRL1 | c.974A>G (p.Asn325Ser) c.1244A>G (p.Asn415Ser) c.722A>G (p.Asn241Ser) n.519A>G c.1286A>G (p.Asn429Ser) c.249A>G c.455A>G (p.Asn152Ser) | dbSNP |
| 12 | g.51916231A>T | CA384903073 | ACVRL1 | c.974A>T (p.Asn325Ile) c.1244A>T (p.Asn415Ile) c.722A>T (p.Asn241Ile) n.519A>T c.1286A>T (p.Asn429Ile) c.249A>T c.455A>T (p.Asn152Ile) |