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 |
|---|---|---|---|---|---|
| 12 | g.51915224G>A | CA384900281 | ACVRL1 | c.503-1G>A (n.503-1G>A) c.773-1G>A (n.773-1G>A) c.251-1G>A (n.251-1G>A) c.815-1G>A (n.815-1G>A) c.-17-1G>A (n.-17-1G>A) | |
| 12 | g.51915224G>C | CA384900283 | ACVRL1 | c.503-1G>C (n.503-1G>C) c.773-1G>C (n.773-1G>C) c.251-1G>C (n.251-1G>C) c.815-1G>C (n.815-1G>C) c.-17-1G>C (n.-17-1G>C) | |
| 12 | g.51915224G>T | CA384900282 | ACVRL1 | c.503-1G>T (n.503-1G>T) c.773-1G>T (n.773-1G>T) c.251-1G>T (n.251-1G>T) c.815-1G>T (n.815-1G>T) c.-17-1G>T (n.-17-1G>T) | |
| 12 | g.51915225G>A | CA384900284 | ACVRL1 | c.503G>A (p.Gly168Asp) c.773G>A (p.Gly258Asp) c.251G>A (p.Gly84Asp) c.815G>A (p.Gly272Asp) c.-17G>A (n.-17G>A) | |
| 12 | g.51915225G>C | CA384900285 | ACVRL1 | c.503G>C (p.Gly168Ala) c.773G>C (p.Gly258Ala) c.251G>C (p.Gly84Ala) c.815G>C (p.Gly272Ala) c.-17G>C (n.-17G>C) | dbSNP gnomAD v4 |
| 12 | g.51915225G= | CA2036269420 | ACVRL1 | c.503G= (p.Gly168=) c.773G= (p.Gly258=) c.251G= (p.Gly84=) c.815G= (p.Gly272=) c.-17G= (n.-17G=) | |
| 12 | g.51915225G>T | CA384900286 | ACVRL1 | c.503G>T (p.Gly168Val) c.773G>T (p.Gly258Val) c.251G>T (p.Gly84Val) c.815G>T (p.Gly272Val) c.-17G>T (n.-17G>T) | gnomAD v4 |
| 12 | g.51915226C>A | CA480062956 | ACVRL1 | c.504C>A (p.Gly168=) c.774C>A (p.Gly258=) c.252C>A (p.Gly84=) c.816C>A (p.Gly272=) c.-16C>A (n.-16C>A) | |
| 12 | g.51915226C>G | CA480062953 | ACVRL1 | c.504C>G (p.Gly168=) c.774C>G (p.Gly258=) c.252C>G (p.Gly84=) c.816C>G (p.Gly272=) c.-16C>G (n.-16C>G) | |
| 12 | g.51915226C>T | CA480062954 | ACVRL1 | c.504C>T (p.Gly168=) c.774C>T (p.Gly258=) c.252C>T (p.Gly84=) c.816C>T (p.Gly272=) c.-16C>T (n.-16C>T) | gnomAD v4 |
| 12 | g.51915227T>A | CA384900287 | ACVRL1 | c.505T>A (p.Phe169Ile) c.775T>A (p.Phe259Ile) c.253T>A (p.Phe85Ile) c.817T>A (p.Phe273Ile) c.-15T>A (n.-15T>A) | |
| 12 | g.51915227T>C | CA384900288 | ACVRL1 | c.505T>C (p.Phe169Leu) c.775T>C (p.Phe259Leu) c.253T>C (p.Phe85Leu) c.817T>C (p.Phe273Leu) c.-15T>C (n.-15T>C) | |
| 12 | g.51915227T>G | CA384900289 | ACVRL1 | c.505T>G (p.Phe169Val) c.775T>G (p.Phe259Val) c.253T>G (p.Phe85Val) c.817T>G (p.Phe273Val) c.-15T>G (n.-15T>G) | |
| 12 | g.51915228T>A | CA384900292 | ACVRL1 | c.506T>A (p.Phe169Tyr) c.776T>A (p.Phe259Tyr) c.254T>A (p.Phe85Tyr) c.818T>A (p.Phe273Tyr) c.-14T>A (n.-14T>A) | |
| 12 | g.51915228T>C | CA384900290 | ACVRL1 | c.506T>C (p.Phe169Ser) c.776T>C (p.Phe259Ser) c.254T>C (p.Phe85Ser) c.818T>C (p.Phe273Ser) c.-14T>C (n.-14T>C) | |
| 12 | g.51915228T>G | CA384900291 | ACVRL1 | c.506T>G (p.Phe169Cys) c.776T>G (p.Phe259Cys) c.254T>G (p.Phe85Cys) c.818T>G (p.Phe273Cys) c.-14T>G (n.-14T>G) | |
| 12 | g.51915229C>A | CA384900293 | ACVRL1 | c.507C>A (p.Phe169Leu) c.777C>A (p.Phe259Leu) c.255C>A (p.Phe85Leu) c.819C>A (p.Phe273Leu) c.-13C>A (n.-13C>A) | |
| 12 | g.51915229C>G | CA384900294 | ACVRL1 | c.507C>G (p.Phe169Leu) c.777C>G (p.Phe259Leu) c.255C>G (p.Phe85Leu) c.819C>G (p.Phe273Leu) c.-13C>G (n.-13C>G) | |
| 12 | g.51915229C>T | CA480062961 | ACVRL1 | c.507C>T (p.Phe169=) c.777C>T (p.Phe259=) c.255C>T (p.Phe85=) c.819C>T (p.Phe273=) c.-13C>T (n.-13C>T) | |
| 12 | g.51915230A>C | CA384900295 | ACVRL1 | c.508A>C (p.Ile170Leu) c.778A>C (p.Ile260Leu) c.256A>C (p.Ile86Leu) c.820A>C (p.Ile274Leu) c.-12A>C (n.-12A>C) | gnomAD v4 |
| 12 | g.51915230A>G | CA384900296 | ACVRL1 | c.508A>G (p.Ile170Val) c.778A>G (p.Ile260Val) c.256A>G (p.Ile86Val) c.820A>G (p.Ile274Val) c.-12A>G (n.-12A>G) | |
| 12 | g.51915230A>T | CA384900297 | ACVRL1 | c.508A>T (p.Ile170Phe) c.778A>T (p.Ile260Phe) c.256A>T (p.Ile86Phe) c.820A>T (p.Ile274Phe) c.-12A>T (n.-12A>T) | |
| 12 | g.51915231T>A | CA384900298 | ACVRL1 | c.509T>A (p.Ile170Asn) c.779T>A (p.Ile260Asn) c.257T>A (p.Ile86Asn) c.821T>A (p.Ile274Asn) c.-11T>A (n.-11T>A) | |
| 12 | g.51915231T>C | CA384900300 | ACVRL1 | c.509T>C (p.Ile170Thr) c.779T>C (p.Ile260Thr) c.257T>C (p.Ile86Thr) c.821T>C (p.Ile274Thr) c.-11T>C (n.-11T>C) | |
| 12 | g.51915231T>G | CA384900299 | ACVRL1 | c.509T>G (p.Ile170Ser) c.779T>G (p.Ile260Ser) c.257T>G (p.Ile86Ser) c.821T>G (p.Ile274Ser) c.-11T>G (n.-11T>G) | |
| 12 | g.51915232C>A | CA480062963 | ACVRL1 | c.510C>A (p.Ile170=) c.780C>A (p.Ile260=) c.258C>A (p.Ile86=) c.822C>A (p.Ile274=) c.-10C>A (n.-10C>A) | |
| 12 | g.51915232C= | CA2036269421 | ACVRL1 | c.510C= (p.Ile170=) c.780C= (p.Ile260=) c.258C= (p.Ile86=) c.822C= (p.Ile274=) c.-10C= (n.-10C=) | |
| 12 | g.51915232C>G | CA384900301 | ACVRL1 | c.510C>G (p.Ile170Met) c.780C>G (p.Ile260Met) c.258C>G (p.Ile86Met) c.822C>G (p.Ile274Met) c.-10C>G (n.-10C>G) | |
| 12 | g.51915232C>T | CA236363944 | ACVRL1 | c.510C>T (p.Ile170=) c.780C>T (p.Ile260=) c.258C>T (p.Ile86=) c.822C>T (p.Ile274=) c.-10C>T (n.-10C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915233G>A | CA384900303 | ACVRL1 | c.511G>A (p.Ala171Thr) c.781G>A (p.Ala261Thr) c.259G>A (p.Ala87Thr) c.823G>A (p.Ala275Thr) c.-9G>A (n.-9G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51915233G>C | CA384900305 | ACVRL1 | c.511G>C (p.Ala171Pro) c.781G>C (p.Ala261Pro) c.259G>C (p.Ala87Pro) c.823G>C (p.Ala275Pro) c.-9G>C (n.-9G>C) | |
| 12 | g.51915233G= | CA2036269422 | ACVRL1 | c.511G= (p.Ala171=) c.781G= (p.Ala261=) c.259G= (p.Ala87=) c.823G= (p.Ala275=) c.-9G= (n.-9G=) | |
| 12 | g.51915233G>T | CA384900306 | ACVRL1 | c.511G>T (p.Ala171Ser) c.781G>T (p.Ala261Ser) c.259G>T (p.Ala87Ser) c.823G>T (p.Ala275Ser) c.-9G>T (n.-9G>T) | |
| 12 | g.51915234C>A | CA384900308 | ACVRL1 | c.512C>A (p.Ala171Asp) c.782C>A (p.Ala261Asp) c.260C>A (p.Ala87Asp) c.824C>A (p.Ala275Asp) c.-8C>A (n.-8C>A) | ClinVar |
| 12 | g.51915234C>G | CA384900309 | ACVRL1 | c.512C>G (p.Ala171Gly) c.782C>G (p.Ala261Gly) c.260C>G (p.Ala87Gly) c.824C>G (p.Ala275Gly) c.-8C>G (n.-8C>G) | |
| 12 | g.51915234C>T | CA384900310 | ACVRL1 | c.512C>T (p.Ala171Val) c.782C>T (p.Ala261Val) c.260C>T (p.Ala87Val) c.824C>T (p.Ala275Val) c.-8C>T (n.-8C>T) | |
| 12 | g.51915235C>A | CA480062967 | ACVRL1 | c.513C>A (p.Ala171=) c.783C>A (p.Ala261=) c.261C>A (p.Ala87=) c.825C>A (p.Ala275=) c.-7C>A (n.-7C>A) | |
| 12 | g.51915235C>G | CA480062968 | ACVRL1 | c.513C>G (p.Ala171=) c.783C>G (p.Ala261=) c.261C>G (p.Ala87=) c.825C>G (p.Ala275=) c.-7C>G (n.-7C>G) | |
| 12 | g.51915235C>T | CA480062971 | ACVRL1 | c.513C>T (p.Ala171=) c.783C>T (p.Ala261=) c.261C>T (p.Ala87=) c.825C>T (p.Ala275=) c.-7C>T (n.-7C>T) | |
| 12 | g.51915236T>A | CA384900311 | ACVRL1 | c.514T>A (p.Ser172Thr) c.784T>A (p.Ser262Thr) c.262T>A (p.Ser88Thr) c.826T>A (p.Ser276Thr) c.-6T>A (n.-6T>A) | gnomAD v4 |
| 12 | g.51915236T>C | CA384900312 | ACVRL1 | c.514T>C (p.Ser172Pro) c.784T>C (p.Ser262Pro) c.262T>C (p.Ser88Pro) c.826T>C (p.Ser276Pro) c.-6T>C (n.-6T>C) | |
| 12 | g.51915236T>G | CA384900314 | ACVRL1 | c.514T>G (p.Ser172Ala) c.784T>G (p.Ser262Ala) c.262T>G (p.Ser88Ala) c.826T>G (p.Ser276Ala) c.-6T>G (n.-6T>G) | |
| 12 | g.51915237C>A | CA384900316 | ACVRL1 | c.515C>A (p.Ser172Ter) c.785C>A (p.Ser262Ter) c.263C>A (p.Ser88Ter) c.827C>A (p.Ser276Ter) c.-5C>A (n.-5C>A) | |
| 12 | g.51915237C>G | CA384900319 | ACVRL1 | c.515C>G (p.Ser172Ter) c.785C>G (p.Ser262Ter) c.263C>G (p.Ser88Ter) c.827C>G (p.Ser276Ter) c.-5C>G (n.-5C>G) | COSMIC COSMIC |
| 12 | g.51915237C>T | CA384900318 | ACVRL1 | c.515C>T (p.Ser172Leu) c.785C>T (p.Ser262Leu) c.263C>T (p.Ser88Leu) c.827C>T (p.Ser276Leu) c.-5C>T (n.-5C>T) | |
| 12 | g.51915238A= | CA2036269423 | ACVRL1 | c.516A= (p.Ser172=) c.786A= (p.Ser262=) c.264A= (p.Ser88=) c.828A= (p.Ser276=) c.-4A= (n.-4A=) | |
| 12 | g.51915238A>C | CA480062973 | ACVRL1 | c.516A>C (p.Ser172=) c.786A>C (p.Ser262=) c.264A>C (p.Ser88=) c.828A>C (p.Ser276=) c.-4A>C (n.-4A>C) | |
| 12 | g.51915238A>G | CA6572997 | ACVRL1 | c.516A>G (p.Ser172=) c.786A>G (p.Ser262=) c.264A>G (p.Ser88=) c.828A>G (p.Ser276=) c.-4A>G (n.-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915238A>T | CA480062976 | ACVRL1 | c.516A>T (p.Ser172=) c.786A>T (p.Ser262=) c.264A>T (p.Ser88=) c.828A>T (p.Ser276=) c.-4A>T (n.-4A>T) | |
| 12 | g.51915239G>A | CA384900322 | ACVRL1 | c.517G>A (p.Asp173Asn) c.787G>A (p.Asp263Asn) c.265G>A (p.Asp89Asn) c.829G>A (p.Asp277Asn) c.-3G>A (n.-3G>A) | ClinVar dbSNP |
| 12 | g.51915239G>C | CA384900323 | ACVRL1 | c.517G>C (p.Asp173His) c.787G>C (p.Asp263His) c.265G>C (p.Asp89His) c.829G>C (p.Asp277His) c.-3G>C (n.-3G>C) | |
| 12 | g.51915239G>T | CA384900325 | ACVRL1 | c.517G>T (p.Asp173Tyr) c.787G>T (p.Asp263Tyr) c.265G>T (p.Asp89Tyr) c.829G>T (p.Asp277Tyr) c.-3G>T (n.-3G>T) | |
| 12 | g.51915240A= | CA2036269424 | ACVRL1 | c.518A= (p.Asp173=) c.788A= (p.Asp263=) c.266A= (p.Asp89=) c.830A= (p.Asp277=) c.-2A= (n.-2A=) | |
| 12 | g.51915240A>C | CA384900326 | ACVRL1 | c.518A>C (p.Asp173Ala) c.788A>C (p.Asp263Ala) c.266A>C (p.Asp89Ala) c.830A>C (p.Asp277Ala) c.-2A>C (n.-2A>C) | |
| 12 | g.51915240A>G | CA384900328 | ACVRL1 | c.518A>G (p.Asp173Gly) c.788A>G (p.Asp263Gly) c.266A>G (p.Asp89Gly) c.830A>G (p.Asp277Gly) c.-2A>G (n.-2A>G) | ClinVar dbSNP |
| 12 | g.51915240A>T | CA384900329 | ACVRL1 | c.518A>T (p.Asp173Val) c.788A>T (p.Asp263Val) c.266A>T (p.Asp89Val) c.830A>T (p.Asp277Val) c.-2A>T (n.-2A>T) | |
| 12 | g.51915241del | CA2739272047 | ACVRL1 | c.519del (p.Asp173GlufsTer2) c.789del (p.Asp263GlufsTer2) c.267del (p.Asp89GlufsTer2) c.831del (p.Asp277GlufsTer2) c.-1del (n.-1del) | ClinVar |
| 12 | g.51915241C>A | CA384900333 | ACVRL1 | c.519C>A (p.Asp173Glu) c.789C>A (p.Asp263Glu) c.267C>A (p.Asp89Glu) c.831C>A (p.Asp277Glu) c.-1C>A (n.-1C>A) | |
| 12 | g.51915241C>G | CA384900331 | ACVRL1 | c.519C>G (p.Asp173Glu) c.789C>G (p.Asp263Glu) c.267C>G (p.Asp89Glu) c.831C>G (p.Asp277Glu) c.-1C>G (n.-1C>G) | |
| 12 | g.51915241C>T | CA480062978 | ACVRL1 | c.519C>T (p.Asp173=) c.789C>T (p.Asp263=) c.267C>T (p.Asp89=) c.831C>T (p.Asp277=) c.-1C>T (n.-1C>T) | gnomAD v4 |
| 12 | g.51915242A= | CA2036269425 | ACVRL1 | c.520A= (p.Met174=) c.790A= (p.Met264=) c.268A= (p.Met90=) c.832A= (p.Met278=) c.1A= (p.Met1=) | |
| 12 | g.51915242A>C | CA384900334 | ACVRL1 | c.520A>C (p.Met174Leu) c.790A>C (p.Met264Leu) c.268A>C (p.Met90Leu) c.832A>C (p.Met278Leu) c.1A>C (p.Met1Leu) | |
| 12 | g.51915242A>G | CA384900336 | ACVRL1 | c.520A>G (p.Met174Val) c.790A>G (p.Met264Val) c.268A>G (p.Met90Val) c.832A>G (p.Met278Val) c.1A>G (p.Met1Val) | dbSNP gnomAD v4 |
| 12 | g.51915242A>T | CA384900337 | ACVRL1 | c.520A>T (p.Met174Leu) c.790A>T (p.Met264Leu) c.268A>T (p.Met90Leu) c.832A>T (p.Met278Leu) c.1A>T (p.Met1Leu) | |
| 12 | g.51915243T>A | CA384900339 | ACVRL1 | c.521T>A (p.Met174Lys) c.791T>A (p.Met264Lys) c.269T>A (p.Met90Lys) c.833T>A (p.Met278Lys) c.2T>A (p.Met1Lys) | |
| 12 | g.51915243T>C | CA384900341 | ACVRL1 | c.521T>C (p.Met174Thr) c.791T>C (p.Met264Thr) c.269T>C (p.Met90Thr) c.833T>C (p.Met278Thr) c.2T>C (p.Met1Thr) | |
| 12 | g.51915243T>G | CA384900342 | ACVRL1 | c.521T>G (p.Met174Arg) c.791T>G (p.Met264Arg) c.269T>G (p.Met90Arg) c.833T>G (p.Met278Arg) c.2T>G (p.Met1Arg) | |
| 12 | g.51915244G>A | CA384900344 | ACVRL1 | c.522G>A (p.Met174Ile) c.792G>A (p.Met264Ile) c.270G>A (p.Met90Ile) c.834G>A (p.Met278Ile) c.3G>A (p.Met1Ile) | |
| 12 | g.51915244G>C | CA384900347 | ACVRL1 | c.522G>C (p.Met174Ile) c.792G>C (p.Met264Ile) c.270G>C (p.Met90Ile) c.834G>C (p.Met278Ile) c.3G>C (p.Met1Ile) | |
| 12 | g.51915244G= | CA2036269426 | ACVRL1 | c.522G= (p.Met174=) c.792G= (p.Met264=) c.270G= (p.Met90=) c.834G= (p.Met278=) c.3G= (p.Met1=) | |
| 12 | g.51915244G>T | CA384900346 | ACVRL1 | c.522G>T (p.Met174Ile) c.792G>T (p.Met264Ile) c.270G>T (p.Met90Ile) c.834G>T (p.Met278Ile) c.3G>T (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915245A= | CA2036269427 | ACVRL1 | c.523A= (p.Thr175=) c.793A= (p.Thr265=) c.271A= (p.Thr91=) c.835A= (p.Thr279=) c.4A= (p.Thr2=) | |
| 12 | g.51915245A>C | CA384900349 | ACVRL1 | c.523A>C (p.Thr175Pro) c.793A>C (p.Thr265Pro) c.271A>C (p.Thr91Pro) c.835A>C (p.Thr279Pro) c.4A>C (p.Thr2Pro) | dbSNP |
| 12 | g.51915245A>G | CA384900351 | ACVRL1 | c.523A>G (p.Thr175Ala) c.793A>G (p.Thr265Ala) c.271A>G (p.Thr91Ala) c.835A>G (p.Thr279Ala) c.4A>G (p.Thr2Ala) | |
| 12 | g.51915245A>T | CA384900352 | ACVRL1 | c.523A>T (p.Thr175Ser) c.793A>T (p.Thr265Ser) c.271A>T (p.Thr91Ser) c.835A>T (p.Thr279Ser) c.4A>T (p.Thr2Ser) | |
| 12 | g.51915246C>A | CA384900354 | ACVRL1 | c.524C>A (p.Thr175Asn) c.794C>A (p.Thr265Asn) c.272C>A (p.Thr91Asn) c.836C>A (p.Thr279Asn) c.5C>A (p.Thr2Asn) | |
| 12 | g.51915246C>G | CA384900355 | ACVRL1 | c.524C>G (p.Thr175Ser) c.794C>G (p.Thr265Ser) c.272C>G (p.Thr91Ser) c.836C>G (p.Thr279Ser) c.5C>G (p.Thr2Ser) | |
| 12 | g.51915246C>T | CA384900357 | ACVRL1 | c.524C>T (p.Thr175Ile) c.794C>T (p.Thr265Ile) c.272C>T (p.Thr91Ile) c.836C>T (p.Thr279Ile) c.5C>T (p.Thr2Ile) | |
| 12 | g.51915246_51915251del | CA2580086475 | ACVRL1 | c.524_529del (p.Thr175_Arg177delinsSer) c.794_799del (p.Thr265_Arg267delinsSer) c.272_277del (p.Thr91_Arg93delinsSer) c.836_841del (p.Thr279_Arg281delinsSer) c.5_10del (p.Thr2_Arg4delinsSer) | ClinVar |
| 12 | g.51915247C>A | CA480062986 | ACVRL1 | c.525C>A (p.Thr175=) c.795C>A (p.Thr265=) c.273C>A (p.Thr91=) c.837C>A (p.Thr279=) c.6C>A (p.Thr2=) | |
| 12 | g.51915247C>G | CA480062984 | ACVRL1 | c.525C>G (p.Thr175=) c.795C>G (p.Thr265=) c.273C>G (p.Thr91=) c.837C>G (p.Thr279=) c.6C>G (p.Thr2=) | |
| 12 | g.51915247C>T | CA480062985 | ACVRL1 | c.525C>T (p.Thr175=) c.795C>T (p.Thr265=) c.273C>T (p.Thr91=) c.837C>T (p.Thr279=) c.6C>T (p.Thr2=) | |
| 12 | g.51915248T>A | CA384900359 | ACVRL1 | c.526T>A (p.Ser176Thr) c.796T>A (p.Ser266Thr) c.274T>A (p.Ser92Thr) c.838T>A (p.Ser280Thr) c.7T>A (p.Ser3Thr) | |
| 12 | g.51915248T>C | CA384900361 | ACVRL1 | c.526T>C (p.Ser176Pro) c.796T>C (p.Ser266Pro) c.274T>C (p.Ser92Pro) c.838T>C (p.Ser280Pro) c.7T>C (p.Ser3Pro) | |
| 12 | g.51915248T>G | CA384900362 | ACVRL1 | c.526T>G (p.Ser176Ala) c.796T>G (p.Ser266Ala) c.274T>G (p.Ser92Ala) c.838T>G (p.Ser280Ala) c.7T>G (p.Ser3Ala) | |
| 12 | g.51915249C>A | CA384900364 | ACVRL1 | c.527C>A (p.Ser176Tyr) c.797C>A (p.Ser266Tyr) c.275C>A (p.Ser92Tyr) c.839C>A (p.Ser280Tyr) c.8C>A (p.Ser3Tyr) | |
| 12 | g.51915249C>G | CA384900366 | ACVRL1 | c.527C>G (p.Ser176Cys) c.797C>G (p.Ser266Cys) c.275C>G (p.Ser92Cys) c.839C>G (p.Ser280Cys) c.8C>G (p.Ser3Cys) | |
| 12 | g.51915249C>T | CA384900367 | ACVRL1 | c.527C>T (p.Ser176Phe) c.797C>T (p.Ser266Phe) c.275C>T (p.Ser92Phe) c.839C>T (p.Ser280Phe) c.8C>T (p.Ser3Phe) | |
| 12 | g.51915250C>A | CA480063142 | ACVRL1 | c.528C>A (p.Ser176=) c.798C>A (p.Ser266=) c.276C>A (p.Ser92=) c.840C>A (p.Ser280=) c.9C>A (p.Ser3=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915250C>G | CA480063143 | ACVRL1 | c.528C>G (p.Ser176=) c.798C>G (p.Ser266=) c.276C>G (p.Ser92=) c.840C>G (p.Ser280=) c.9C>G (p.Ser3=) | |
| 12 | g.51915250C>T | CA480063144 | ACVRL1 | c.528C>T (p.Ser176=) c.798C>T (p.Ser266=) c.276C>T (p.Ser92=) c.840C>T (p.Ser280=) c.9C>T (p.Ser3=) | |
| 12 | g.51915251C>A | CA384900371 | ACVRL1 | c.529C>A (p.Arg177Ser) c.799C>A (p.Arg267Ser) c.277C>A (p.Arg93Ser) c.841C>A (p.Arg281Ser) c.10C>A (p.Arg4Ser) | gnomAD v4 |
| 12 | g.51915251C= | CA2036269428 | ACVRL1 | c.529C= (p.Arg177=) c.799C= (p.Arg267=) c.277C= (p.Arg93=) c.841C= (p.Arg281=) c.10C= (p.Arg4=) | |
| 12 | g.51915251C>G | CA384900369 | ACVRL1 | c.529C>G (p.Arg177Gly) c.799C>G (p.Arg267Gly) c.277C>G (p.Arg93Gly) c.841C>G (p.Arg281Gly) c.10C>G (p.Arg4Gly) | |
| 12 | g.51915251C>T | CA6572998 | ACVRL1 | c.529C>T (p.Arg177Cys) c.799C>T (p.Arg267Cys) c.277C>T (p.Arg93Cys) c.841C>T (p.Arg281Cys) c.10C>T (p.Arg4Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51915252G>A | CA6572999 | ACVRL1 | c.530G>A (p.Arg177His) c.800G>A (p.Arg267His) c.278G>A (p.Arg93His) c.842G>A (p.Arg281His) c.11G>A (p.Arg4His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915252G>C | CA384900373 | ACVRL1 | c.530G>C (p.Arg177Pro) c.800G>C (p.Arg267Pro) c.278G>C (p.Arg93Pro) c.842G>C (p.Arg281Pro) c.11G>C (p.Arg4Pro) | dbSNP gnomAD v2 |
| 12 | g.51915252G= | CA2036269429 | ACVRL1 | c.530G= (p.Arg177=) c.800G= (p.Arg267=) c.278G= (p.Arg93=) c.842G= (p.Arg281=) c.11G= (p.Arg4=) | |
| 12 | g.51915252G>T | CA384900374 | ACVRL1 | c.530G>T (p.Arg177Leu) c.800G>T (p.Arg267Leu) c.278G>T (p.Arg93Leu) c.842G>T (p.Arg281Leu) c.11G>T (p.Arg4Leu) | |
| 12 | g.51915253C>A | CA480063145 | ACVRL1 | c.531C>A (p.Arg177=) c.801C>A (p.Arg267=) c.279C>A (p.Arg93=) c.843C>A (p.Arg281=) c.12C>A (p.Arg4=) | |
| 12 | g.51915253C>G | CA480063146 | ACVRL1 | c.531C>G (p.Arg177=) c.801C>G (p.Arg267=) c.279C>G (p.Arg93=) c.843C>G (p.Arg281=) c.12C>G (p.Arg4=) | |
| 12 | g.51915253C>T | CA480063147 | ACVRL1 | c.531C>T (p.Arg177=) c.801C>T (p.Arg267=) c.279C>T (p.Arg93=) c.843C>T (p.Arg281=) c.12C>T (p.Arg4=) | COSMIC COSMIC |
| 12 | g.51915254A>C | CA384900376 | ACVRL1 | c.532A>C (p.Asn178His) c.802A>C (p.Asn268His) c.280A>C (p.Asn94His) c.844A>C (p.Asn282His) c.13A>C (p.Asn5His) | |
| 12 | g.51915254A>G | CA384900379 | ACVRL1 | c.532A>G (p.Asn178Asp) c.802A>G (p.Asn268Asp) c.280A>G (p.Asn94Asp) c.844A>G (p.Asn282Asp) c.13A>G (p.Asn5Asp) | |
| 12 | g.51915254A>T | CA384900380 | ACVRL1 | c.532A>T (p.Asn178Tyr) c.802A>T (p.Asn268Tyr) c.280A>T (p.Asn94Tyr) c.844A>T (p.Asn282Tyr) c.13A>T (p.Asn5Tyr) | |
| 12 | g.51915255A>C | CA384900386 | ACVRL1 | c.533A>C (p.Asn178Thr) c.803A>C (p.Asn268Thr) c.281A>C (p.Asn94Thr) c.845A>C (p.Asn282Thr) c.14A>C (p.Asn5Thr) | |
| 12 | g.51915255A>G | CA384900382 | ACVRL1 | c.533A>G (p.Asn178Ser) c.803A>G (p.Asn268Ser) c.281A>G (p.Asn94Ser) c.845A>G (p.Asn282Ser) c.14A>G (p.Asn5Ser) | gnomAD v4 |
| 12 | g.51915255A>T | CA384900384 | ACVRL1 | c.533A>T (p.Asn178Ile) c.803A>T (p.Asn268Ile) c.281A>T (p.Asn94Ile) c.845A>T (p.Asn282Ile) c.14A>T (p.Asn5Ile) | |
| 12 | g.51915256C>A | CA384900387 | ACVRL1 | c.534C>A (p.Asn178Lys) c.804C>A (p.Asn268Lys) c.282C>A (p.Asn94Lys) c.846C>A (p.Asn282Lys) c.15C>A (p.Asn5Lys) | |
| 12 | g.51915256C>G | CA384900389 | ACVRL1 | c.534C>G (p.Asn178Lys) c.804C>G (p.Asn268Lys) c.282C>G (p.Asn94Lys) c.846C>G (p.Asn282Lys) c.15C>G (p.Asn5Lys) | gnomAD v4 |
| 12 | g.51915256C>T | CA480063148 | ACVRL1 | c.534C>T (p.Asn178=) c.804C>T (p.Asn268=) c.282C>T (p.Asn94=) c.846C>T (p.Asn282=) c.15C>T (p.Asn5=) | |
| 12 | g.51915257T>A | CA384900390 | ACVRL1 | c.535T>A (p.Ser179Thr) c.805T>A (p.Ser269Thr) c.283T>A (p.Ser95Thr) c.847T>A (p.Ser283Thr) c.16T>A (p.Ser6Thr) | |
| 12 | g.51915257T>C | CA384900392 | ACVRL1 | c.535T>C (p.Ser179Pro) c.805T>C (p.Ser269Pro) c.283T>C (p.Ser95Pro) c.847T>C (p.Ser283Pro) c.16T>C (p.Ser6Pro) | |
| 12 | g.51915257T>G | CA384900393 | ACVRL1 | c.535T>G (p.Ser179Ala) c.805T>G (p.Ser269Ala) c.283T>G (p.Ser95Ala) c.847T>G (p.Ser283Ala) c.16T>G (p.Ser6Ala) | dbSNP |
| 12 | g.51915258C>A | CA384900395 | ACVRL1 | c.536C>A (p.Ser179Ter) c.806C>A (p.Ser269Ter) c.284C>A (p.Ser95Ter) c.848C>A (p.Ser283Ter) c.17C>A (p.Ser6Ter) | ClinVar |
| 12 | g.51915258C>G | CA384900398 | ACVRL1 | c.536C>G (p.Ser179Trp) c.806C>G (p.Ser269Trp) c.284C>G (p.Ser95Trp) c.848C>G (p.Ser283Trp) c.17C>G (p.Ser6Trp) | |
| 12 | g.51915258C>T | CA384900396 | ACVRL1 | c.536C>T (p.Ser179Leu) c.806C>T (p.Ser269Leu) c.284C>T (p.Ser95Leu) c.848C>T (p.Ser283Leu) c.17C>T (p.Ser6Leu) | |
| 12 | g.51915259_51915262del | CA2573148782 | ACVRL1 | c.537_540del (p.Ser180ArgfsTer?) c.807_810del (p.Ser270ArgfsTer?) c.285_288del (p.Ser96ArgfsTer?) c.849_852del (p.Ser284ArgfsTer?) c.18_21del (p.Ser7ArgfsTer?) | ClinVar dbSNP |
| 12 | g.51915259G>A | CA480063149 | ACVRL1 | c.537G>A (p.Ser179=) c.807G>A (p.Ser269=) c.285G>A (p.Ser95=) c.849G>A (p.Ser283=) c.18G>A (p.Ser6=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51915259G>C | CA480063150 | ACVRL1 | c.537G>C (p.Ser179=) c.807G>C (p.Ser269=) c.285G>C (p.Ser95=) c.849G>C (p.Ser283=) c.18G>C (p.Ser6=) | gnomAD v4 |
| 12 | g.51915259G= | CA2036269430 | ACVRL1 | c.537G= (p.Ser179=) c.807G= (p.Ser269=) c.285G= (p.Ser95=) c.849G= (p.Ser283=) c.18G= (p.Ser6=) | |
| 12 | g.51915259G>T | CA480063151 | ACVRL1 | c.537G>T (p.Ser179=) c.807G>T (p.Ser269=) c.285G>T (p.Ser95=) c.849G>T (p.Ser283=) c.18G>T (p.Ser6=) | gnomAD v4 |
| 12 | g.51915260A>C | CA384900400 | ACVRL1 | c.538A>C (p.Ser180Arg) c.808A>C (p.Ser270Arg) c.286A>C (p.Ser96Arg) c.850A>C (p.Ser284Arg) c.19A>C (p.Ser7Arg) | |
| 12 | g.51915260A>G | CA384900401 | ACVRL1 | c.538A>G (p.Ser180Gly) c.808A>G (p.Ser270Gly) c.286A>G (p.Ser96Gly) c.850A>G (p.Ser284Gly) c.19A>G (p.Ser7Gly) | |
| 12 | g.51915260A>T | CA384900403 | ACVRL1 | c.538A>T (p.Ser180Cys) c.808A>T (p.Ser270Cys) c.286A>T (p.Ser96Cys) c.850A>T (p.Ser284Cys) c.19A>T (p.Ser7Cys) | |
| 12 | g.51915260_51915272dup | CA658797917 | ACVRL1 | c.538_550dup (p.Trp184Ter) c.808_820dup (p.Trp274Ter) c.286_298dup (p.Trp100Ter) c.850_862dup (p.Trp288Ter) c.19_31dup (p.Trp11Ter) | ClinVar dbSNP |
| 12 | g.51915261G>A | CA384900404 | ACVRL1 | c.539G>A (p.Ser180Asn) c.809G>A (p.Ser270Asn) c.287G>A (p.Ser96Asn) c.851G>A (p.Ser284Asn) c.20G>A (p.Ser7Asn) | |
| 12 | g.51915261G>C | CA384900406 | ACVRL1 | c.539G>C (p.Ser180Thr) c.809G>C (p.Ser270Thr) c.287G>C (p.Ser96Thr) c.851G>C (p.Ser284Thr) c.20G>C (p.Ser7Thr) | |
| 12 | g.51915261G>T | CA384900407 | ACVRL1 | c.539G>T (p.Ser180Ile) c.809G>T (p.Ser270Ile) c.287G>T (p.Ser96Ile) c.851G>T (p.Ser284Ile) c.20G>T (p.Ser7Ile) | |
| 12 | g.51915263_51915275del | CA2695216738 | ACVRL1 | c.541_553del (p.Thr181SerfsTer26) c.811_823del (p.Thr271SerfsTer26) c.289_301del (p.Thr97SerfsTer26) c.853_865del (p.Thr285SerfsTer26) c.22_34del (p.Thr8SerfsTer26) | |
| 12 | g.51915262C>A | CA384900408 | ACVRL1 | c.540C>A (p.Ser180Arg) c.810C>A (p.Ser270Arg) c.288C>A (p.Ser96Arg) c.852C>A (p.Ser284Arg) c.21C>A (p.Ser7Arg) | |
| 12 | g.51915262C>G | CA384900409 | ACVRL1 | c.540C>G (p.Ser180Arg) c.810C>G (p.Ser270Arg) c.288C>G (p.Ser96Arg) c.852C>G (p.Ser284Arg) c.21C>G (p.Ser7Arg) | |
| 12 | g.51915262C>T | CA480063152 | ACVRL1 | c.540C>T (p.Ser180=) c.810C>T (p.Ser270=) c.288C>T (p.Ser96=) c.852C>T (p.Ser284=) c.21C>T (p.Ser7=) | |
| 12 | g.51915263A>C | CA384900411 | ACVRL1 | c.541A>C (p.Thr181Pro) c.811A>C (p.Thr271Pro) c.289A>C (p.Thr97Pro) c.853A>C (p.Thr285Pro) c.22A>C (p.Thr8Pro) | |
| 12 | g.51915263A>G | CA384900412 | ACVRL1 | c.541A>G (p.Thr181Ala) c.811A>G (p.Thr271Ala) c.289A>G (p.Thr97Ala) c.853A>G (p.Thr285Ala) c.22A>G (p.Thr8Ala) | |
| 12 | g.51915263A>T | CA384900413 | ACVRL1 | c.541A>T (p.Thr181Ser) c.811A>T (p.Thr271Ser) c.289A>T (p.Thr97Ser) c.853A>T (p.Thr285Ser) c.22A>T (p.Thr8Ser) | |
| 12 | g.51915264C>A | CA384900414 | ACVRL1 | c.542C>A (p.Thr181Lys) c.812C>A (p.Thr271Lys) c.290C>A (p.Thr97Lys) c.854C>A (p.Thr285Lys) c.23C>A (p.Thr8Lys) | ClinVar dbSNP |
| 12 | g.51915264C>G | CA384900417 | ACVRL1 | c.542C>G (p.Thr181Arg) c.812C>G (p.Thr271Arg) c.290C>G (p.Thr97Arg) c.854C>G (p.Thr285Arg) c.23C>G (p.Thr8Arg) | ClinVar |
| 12 | g.51915264C>T | CA384900415 | ACVRL1 | c.542C>T (p.Thr181Met) c.812C>T (p.Thr271Met) c.290C>T (p.Thr97Met) c.854C>T (p.Thr285Met) c.23C>T (p.Thr8Met) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915265G>A | CA6573000 | ACVRL1 | c.543G>A (p.Thr181=) c.813G>A (p.Thr271=) c.291G>A (p.Thr97=) c.855G>A (p.Thr285=) c.24G>A (p.Thr8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915265G>C | CA480063153 | ACVRL1 | c.543G>C (p.Thr181=) c.813G>C (p.Thr271=) c.291G>C (p.Thr97=) c.855G>C (p.Thr285=) c.24G>C (p.Thr8=) | |
| 12 | g.51915265G= | CA2036269431 | ACVRL1 | c.543G= (p.Thr181=) c.813G= (p.Thr271=) c.291G= (p.Thr97=) c.855G= (p.Thr285=) c.24G= (p.Thr8=) | |
| 12 | g.51915265G>T | CA480063154 | ACVRL1 | c.543G>T (p.Thr181=) c.813G>T (p.Thr271=) c.291G>T (p.Thr97=) c.855G>T (p.Thr285=) c.24G>T (p.Thr8=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915266C>A | CA384900421 | ACVRL1 | c.544C>A (p.Gln182Lys) c.814C>A (p.Gln272Lys) c.292C>A (p.Gln98Lys) c.856C>A (p.Gln286Lys) c.25C>A (p.Gln9Lys) | |
| 12 | g.51915266C>G | CA384900419 | ACVRL1 | c.544C>G (p.Gln182Glu) c.814C>G (p.Gln272Glu) c.292C>G (p.Gln98Glu) c.856C>G (p.Gln286Glu) c.25C>G (p.Gln9Glu) | |
| 12 | g.51915266C>T | CA384900420 | ACVRL1 | c.544C>T (p.Gln182Ter) c.814C>T (p.Gln272Ter) c.292C>T (p.Gln98Ter) c.856C>T (p.Gln286Ter) c.25C>T (p.Gln9Ter) | |
| 12 | g.51915267A>C | CA384900422 | ACVRL1 | c.545A>C (p.Gln182Pro) c.815A>C (p.Gln272Pro) c.293A>C (p.Gln98Pro) c.857A>C (p.Gln286Pro) c.26A>C (p.Gln9Pro) | |
| 12 | g.51915267A>G | CA384900423 | ACVRL1 | c.545A>G (p.Gln182Arg) c.815A>G (p.Gln272Arg) c.293A>G (p.Gln98Arg) c.857A>G (p.Gln286Arg) c.26A>G (p.Gln9Arg) | |
| 12 | g.51915267A>T | CA384900424 | ACVRL1 | c.545A>T (p.Gln182Leu) c.815A>T (p.Gln272Leu) c.293A>T (p.Gln98Leu) c.857A>T (p.Gln286Leu) c.26A>T (p.Gln9Leu) | |
| 12 | g.51915268G>A | CA480063155 | ACVRL1 | c.546G>A (p.Gln182=) c.816G>A (p.Gln272=) c.294G>A (p.Gln98=) c.858G>A (p.Gln286=) c.27G>A (p.Gln9=) | |
| 12 | g.51915268G>C | CA384900425 | ACVRL1 | c.546G>C (p.Gln182His) c.816G>C (p.Gln272His) c.294G>C (p.Gln98His) c.858G>C (p.Gln286His) c.27G>C (p.Gln9His) | |
| 12 | g.51915268G>T | CA384900427 | ACVRL1 | c.546G>T (p.Gln182His) c.816G>T (p.Gln272His) c.294G>T (p.Gln98His) c.858G>T (p.Gln286His) c.27G>T (p.Gln9His) | |
| 12 | g.51915269C>A | CA384900429 | ACVRL1 | c.547C>A (p.Leu183Met) c.817C>A (p.Leu273Met) c.295C>A (p.Leu99Met) c.859C>A (p.Leu287Met) c.28C>A (p.Leu10Met) | |
| 12 | g.51915269C= | CA2036269432 | ACVRL1 | c.547C= (p.Leu183=) c.817C= (p.Leu273=) c.295C= (p.Leu99=) c.859C= (p.Leu287=) c.28C= (p.Leu10=) | |
| 12 | g.51915269C>G | CA384900431 | ACVRL1 | c.547C>G (p.Leu183Val) c.817C>G (p.Leu273Val) c.295C>G (p.Leu99Val) c.859C>G (p.Leu287Val) c.28C>G (p.Leu10Val) | |
| 12 | g.51915269C>T | CA6573001 | ACVRL1 | c.547C>T (p.Leu183=) c.817C>T (p.Leu273=) c.295C>T (p.Leu99=) c.859C>T (p.Leu287=) c.28C>T (p.Leu10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915270T>A | CA384900436 | ACVRL1 | c.548T>A (p.Leu183Gln) c.818T>A (p.Leu273Gln) c.296T>A (p.Leu99Gln) c.860T>A (p.Leu287Gln) c.29T>A (p.Leu10Gln) | |
| 12 | g.51915270T>C | CA384900434 | ACVRL1 | c.548T>C (p.Leu183Pro) c.818T>C (p.Leu273Pro) c.296T>C (p.Leu99Pro) c.860T>C (p.Leu287Pro) c.29T>C (p.Leu10Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915270T>G | CA384900433 | ACVRL1 | c.548T>G (p.Leu183Arg) c.818T>G (p.Leu273Arg) c.296T>G (p.Leu99Arg) c.860T>G (p.Leu287Arg) c.29T>G (p.Leu10Arg) | |
| 12 | g.51915270T= | CA2036269433 | ACVRL1 | c.548T= (p.Leu183=) c.818T= (p.Leu273=) c.296T= (p.Leu99=) c.860T= (p.Leu287=) c.29T= (p.Leu10=) | |
| 12 | g.51915271G>A | CA480063156 | ACVRL1 | c.549G>A (p.Leu183=) c.819G>A (p.Leu273=) c.297G>A (p.Leu99=) c.861G>A (p.Leu287=) c.30G>A (p.Leu10=) | |
| 12 | g.51915271G>C | CA480063157 | ACVRL1 | c.549G>C (p.Leu183=) c.819G>C (p.Leu273=) c.297G>C (p.Leu99=) c.861G>C (p.Leu287=) c.30G>C (p.Leu10=) | |
| 12 | g.51915271G>T | CA480063158 | ACVRL1 | c.549G>T (p.Leu183=) c.819G>T (p.Leu273=) c.297G>T (p.Leu99=) c.861G>T (p.Leu287=) c.30G>T (p.Leu10=) | |
| 12 | g.51915272T>A | CA384900438 | ACVRL1 | c.550T>A (p.Trp184Arg) c.820T>A (p.Trp274Arg) c.298T>A (p.Trp100Arg) c.862T>A (p.Trp288Arg) c.31T>A (p.Trp11Arg) | |
| 12 | g.51915272T>C | CA384900439 | ACVRL1 | c.550T>C (p.Trp184Arg) c.820T>C (p.Trp274Arg) c.298T>C (p.Trp100Arg) c.862T>C (p.Trp288Arg) c.31T>C (p.Trp11Arg) | |
| 12 | g.51915272T>G | CA384900441 | ACVRL1 | c.550T>G (p.Trp184Gly) c.820T>G (p.Trp274Gly) c.298T>G (p.Trp100Gly) c.862T>G (p.Trp288Gly) c.31T>G (p.Trp11Gly) | |
| 12 | g.51915273_51915276dup | CA2695216739 | ACVRL1 | c.551_554dup (p.Ile186AlafsTer?) c.821_824dup (p.Ile276AlafsTer?) c.299_302dup (p.Ile102AlafsTer?) c.863_866dup (p.Ile290AlafsTer?) c.32_35dup (p.Ile13AlafsTer?) | |
| 12 | g.51915273G>A | CA384900443 | ACVRL1 | c.551G>A (p.Trp184Ter) c.821G>A (p.Trp274Ter) c.299G>A (p.Trp100Ter) c.863G>A (p.Trp288Ter) c.32G>A (p.Trp11Ter) | |
| 12 | g.51915273G>C | CA384900445 | ACVRL1 | c.551G>C (p.Trp184Ser) c.821G>C (p.Trp274Ser) c.299G>C (p.Trp100Ser) c.863G>C (p.Trp288Ser) c.32G>C (p.Trp11Ser) | |
| 12 | g.51915273G>T | CA384900446 | ACVRL1 | c.551G>T (p.Trp184Leu) c.821G>T (p.Trp274Leu) c.299G>T (p.Trp100Leu) c.863G>T (p.Trp288Leu) c.32G>T (p.Trp11Leu) | COSMIC COSMIC |
| 12 | g.51915274G>A | CA6573002 | ACVRL1 | c.552G>A (p.Trp184Ter) c.822G>A (p.Trp274Ter) c.300G>A (p.Trp100Ter) c.864G>A (p.Trp288Ter) c.33G>A (p.Trp11Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915274G>C | CA384900449 | ACVRL1 | c.552G>C (p.Trp184Cys) c.822G>C (p.Trp274Cys) c.300G>C (p.Trp100Cys) c.864G>C (p.Trp288Cys) c.33G>C (p.Trp11Cys) | |
| 12 | g.51915274G= | CA2036269434 | ACVRL1 | c.552G= (p.Trp184=) c.822G= (p.Trp274=) c.300G= (p.Trp100=) c.864G= (p.Trp288=) c.33G= (p.Trp11=) | |
| 12 | g.51915274G>T | CA384900451 | ACVRL1 | c.552G>T (p.Trp184Cys) c.822G>T (p.Trp274Cys) c.300G>T (p.Trp100Cys) c.864G>T (p.Trp288Cys) c.33G>T (p.Trp11Cys) | ClinVar dbSNP |
| 12 | g.51915275C>A | CA6573003 | ACVRL1 | c.553C>A (p.Leu185Ile) c.823C>A (p.Leu275Ile) c.301C>A (p.Leu101Ile) c.865C>A (p.Leu289Ile) c.34C>A (p.Leu12Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915275C= | CA2036269435 | ACVRL1 | c.553C= (p.Leu185=) c.823C= (p.Leu275=) c.301C= (p.Leu101=) c.865C= (p.Leu289=) c.34C= (p.Leu12=) | |
| 12 | g.51915275C>G | CA384900453 | ACVRL1 | c.553C>G (p.Leu185Val) c.823C>G (p.Leu275Val) c.301C>G (p.Leu101Val) c.865C>G (p.Leu289Val) c.34C>G (p.Leu12Val) | |
| 12 | g.51915275C>T | CA384900455 | ACVRL1 | c.553C>T (p.Leu185Phe) c.823C>T (p.Leu275Phe) c.301C>T (p.Leu101Phe) c.865C>T (p.Leu289Phe) c.34C>T (p.Leu12Phe) | |
| 12 | g.51915276T>A | CA384900457 | ACVRL1 | c.554T>A (p.Leu185His) c.824T>A (p.Leu275His) c.302T>A (p.Leu101His) c.866T>A (p.Leu289His) c.35T>A (p.Leu12His) | |
| 12 | g.51915276T>C | CA384900458 | ACVRL1 | c.554T>C (p.Leu185Pro) c.824T>C (p.Leu275Pro) c.302T>C (p.Leu101Pro) c.866T>C (p.Leu289Pro) c.35T>C (p.Leu12Pro) | ClinVar |
| 12 | g.51915276T>G | CA384900456 | ACVRL1 | c.554T>G (p.Leu185Arg) c.824T>G (p.Leu275Arg) c.302T>G (p.Leu101Arg) c.866T>G (p.Leu289Arg) c.35T>G (p.Leu12Arg) | |
| 12 | g.51915277C>A | CA480063159 | ACVRL1 | c.555C>A (p.Leu185=) c.825C>A (p.Leu275=) c.303C>A (p.Leu101=) c.867C>A (p.Leu289=) c.36C>A (p.Leu12=) | |
| 12 | g.51915277C= | CA2036269436 | ACVRL1 | c.555C= (p.Leu185=) c.825C= (p.Leu275=) c.303C= (p.Leu101=) c.867C= (p.Leu289=) c.36C= (p.Leu12=) | |
| 12 | g.51915277C>G | CA480063160 | ACVRL1 | c.555C>G (p.Leu185=) c.825C>G (p.Leu275=) c.303C>G (p.Leu101=) c.867C>G (p.Leu289=) c.36C>G (p.Leu12=) | |
| 12 | g.51915277C>T | CA480063161 | ACVRL1 | c.555C>T (p.Leu185=) c.825C>T (p.Leu275=) c.303C>T (p.Leu101=) c.867C>T (p.Leu289=) c.36C>T (p.Leu12=) | dbSNP |
| 12 | g.51915278A= | CA2036269437 | ACVRL1 | c.556A= (p.Ile186=) c.826A= (p.Ile276=) c.304A= (p.Ile102=) c.868A= (p.Ile290=) c.37A= (p.Ile13=) | |
| 12 | g.51915278A>C | CA236363985 | ACVRL1 | c.556A>C (p.Ile186Leu) c.826A>C (p.Ile276Leu) c.304A>C (p.Ile102Leu) c.868A>C (p.Ile290Leu) c.37A>C (p.Ile13Leu) | dbSNP |
| 12 | g.51915278A>G | CA384900460 | ACVRL1 | c.556A>G (p.Ile186Val) c.826A>G (p.Ile276Val) c.304A>G (p.Ile102Val) c.868A>G (p.Ile290Val) c.37A>G (p.Ile13Val) | |
| 12 | g.51915278A>T | CA384900461 | ACVRL1 | c.556A>T (p.Ile186Phe) c.826A>T (p.Ile276Phe) c.304A>T (p.Ile102Phe) c.868A>T (p.Ile290Phe) c.37A>T (p.Ile13Phe) | |
| 12 | g.51915279T>A | CA384900463 | ACVRL1 | c.557T>A (p.Ile186Asn) c.827T>A (p.Ile276Asn) c.305T>A (p.Ile102Asn) c.869T>A (p.Ile290Asn) c.38T>A (p.Ile13Asn) | |
| 12 | g.51915279T>C | CA384900465 | ACVRL1 | c.557T>C (p.Ile186Thr) c.827T>C (p.Ile276Thr) c.305T>C (p.Ile102Thr) c.869T>C (p.Ile290Thr) c.38T>C (p.Ile13Thr) | |
| 12 | g.51915279T>G | CA384900467 | ACVRL1 | c.557T>G (p.Ile186Ser) c.827T>G (p.Ile276Ser) c.305T>G (p.Ile102Ser) c.869T>G (p.Ile290Ser) c.38T>G (p.Ile13Ser) | |
| 12 | g.51915280C>A | CA480063162 | ACVRL1 | c.558C>A (p.Ile186=) c.828C>A (p.Ile276=) c.306C>A (p.Ile102=) c.870C>A (p.Ile290=) c.39C>A (p.Ile13=) | |
| 12 | g.51915280C= | CA2036269438 | ACVRL1 | c.558C= (p.Ile186=) c.828C= (p.Ile276=) c.306C= (p.Ile102=) c.870C= (p.Ile290=) c.39C= (p.Ile13=) | |
| 12 | g.51915280C>G | CA384900468 | ACVRL1 | c.558C>G (p.Ile186Met) c.828C>G (p.Ile276Met) c.306C>G (p.Ile102Met) c.870C>G (p.Ile290Met) c.39C>G (p.Ile13Met) | |
| 12 | g.51915280C>T | CA236363986 | ACVRL1 | c.558C>T (p.Ile186=) c.828C>T (p.Ile276=) c.306C>T (p.Ile102=) c.870C>T (p.Ile290=) c.39C>T (p.Ile13=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51915281A= | CA2036269439 | ACVRL1 | c.559A= (p.Thr187=) c.829A= (p.Thr277=) c.307A= (p.Thr103=) c.871A= (p.Thr291=) c.40A= (p.Thr14=) | |
| 12 | g.51915281A>C | CA384900469 | ACVRL1 | c.559A>C (p.Thr187Pro) c.829A>C (p.Thr277Pro) c.307A>C (p.Thr103Pro) c.871A>C (p.Thr291Pro) c.40A>C (p.Thr14Pro) | |
| 12 | g.51915281A>G | CA236363987 | ACVRL1 | c.559A>G (p.Thr187Ala) c.829A>G (p.Thr277Ala) c.307A>G (p.Thr103Ala) c.871A>G (p.Thr291Ala) c.40A>G (p.Thr14Ala) | dbSNP gnomAD v4 |
| 12 | g.51915281A>T | CA384900471 | ACVRL1 | c.559A>T (p.Thr187Ser) c.829A>T (p.Thr277Ser) c.307A>T (p.Thr103Ser) c.871A>T (p.Thr291Ser) c.40A>T (p.Thr14Ser) | |
| 12 | g.51915282C>A | CA384900472 | ACVRL1 | c.560C>A (p.Thr187Lys) c.830C>A (p.Thr277Lys) c.308C>A (p.Thr103Lys) c.872C>A (p.Thr291Lys) c.41C>A (p.Thr14Lys) | ClinVar dbSNP |
| 12 | g.51915282C= | CA2036269440 | ACVRL1 | c.560C= (p.Thr187=) c.830C= (p.Thr277=) c.308C= (p.Thr103=) c.872C= (p.Thr291=) c.41C= (p.Thr14=) | |
| 12 | g.51915282C>G | CA384900474 | ACVRL1 | c.560C>G (p.Thr187Arg) c.830C>G (p.Thr277Arg) c.308C>G (p.Thr103Arg) c.872C>G (p.Thr291Arg) c.41C>G (p.Thr14Arg) | ClinVar dbSNP |
| 12 | g.51915282C>T | CA6573004 | ACVRL1 | c.560C>T (p.Thr187Met) c.830C>T (p.Thr277Met) c.308C>T (p.Thr103Met) c.872C>T (p.Thr291Met) c.41C>T (p.Thr14Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51915283G>A | CA236363998 | ACVRL1 | c.561G>A (p.Thr187=) c.831G>A (p.Thr277=) c.309G>A (p.Thr103=) c.873G>A (p.Thr291=) c.42G>A (p.Thr14=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915283G>C | CA480063163 | ACVRL1 | c.561G>C (p.Thr187=) c.831G>C (p.Thr277=) c.309G>C (p.Thr103=) c.873G>C (p.Thr291=) c.42G>C (p.Thr14=) | |
| 12 | g.51915283G= | CA2036269441 | ACVRL1 | c.561G= (p.Thr187=) c.831G= (p.Thr277=) c.309G= (p.Thr103=) c.873G= (p.Thr291=) c.42G= (p.Thr14=) | |
| 12 | g.51915283G>T | CA480063164 | ACVRL1 | c.561G>T (p.Thr187=) c.831G>T (p.Thr277=) c.309G>T (p.Thr103=) c.873G>T (p.Thr291=) c.42G>T (p.Thr14=) | COSMIC COSMIC |
| 12 | g.51915284C>A | CA384900480 | ACVRL1 | c.562C>A (p.His188Asn) c.832C>A (p.His278Asn) c.310C>A (p.His104Asn) c.874C>A (p.His292Asn) c.43C>A (p.His15Asn) | gnomAD v4 |
| 12 | g.51915284C>G | CA384900478 | ACVRL1 | c.562C>G (p.His188Asp) c.832C>G (p.His278Asp) c.310C>G (p.His104Asp) c.874C>G (p.His292Asp) c.43C>G (p.His15Asp) | |
| 12 | g.51915284C>T | CA384900476 | ACVRL1 | c.562C>T (p.His188Tyr) c.832C>T (p.His278Tyr) c.310C>T (p.His104Tyr) c.874C>T (p.His292Tyr) c.43C>T (p.His15Tyr) | |
| 12 | g.51915285A>C | CA384900482 | ACVRL1 | c.563A>C (p.His188Pro) c.833A>C (p.His278Pro) c.311A>C (p.His104Pro) c.875A>C (p.His292Pro) c.44A>C (p.His15Pro) | gnomAD v4 |
| 12 | g.51915285A>G | CA384900484 | ACVRL1 | c.563A>G (p.His188Arg) c.833A>G (p.His278Arg) c.311A>G (p.His104Arg) c.875A>G (p.His292Arg) c.44A>G (p.His15Arg) | |
| 12 | g.51915285A>T | CA384900485 | ACVRL1 | c.563A>T (p.His188Leu) c.833A>T (p.His278Leu) c.311A>T (p.His104Leu) c.875A>T (p.His292Leu) c.44A>T (p.His15Leu) | |
| 12 | g.51915287_51915289dup | CA2580086476 | ACVRL1 | c.565_567dup (p.Tyr189_His190insTyr) c.835_837dup (p.Tyr279_His280insTyr) c.313_315dup (p.Tyr105_His106insTyr) c.877_879dup (p.Tyr293_His294insTyr) c.46_48dup (p.Tyr16_His17insTyr) | ClinVar |
| 12 | g.51915286C>A | CA384900487 | ACVRL1 | c.564C>A (p.His188Gln) c.834C>A (p.His278Gln) c.312C>A (p.His104Gln) c.876C>A (p.His292Gln) c.45C>A (p.His15Gln) | |
| 12 | g.51915286C= | CA2036269442 | ACVRL1 | c.564C= (p.His188=) c.834C= (p.His278=) c.312C= (p.His104=) c.876C= (p.His292=) c.45C= (p.His15=) | |
| 12 | g.51915286C>G | CA384900488 | ACVRL1 | c.564C>G (p.His188Gln) c.834C>G (p.His278Gln) c.312C>G (p.His104Gln) c.876C>G (p.His292Gln) c.45C>G (p.His15Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915286C>T | CA236364003 | ACVRL1 | c.564C>T (p.His188=) c.834C>T (p.His278=) c.312C>T (p.His104=) c.876C>T (p.His292=) c.45C>T (p.His15=) | dbSNP |
| 12 | g.51915287T>A | CA384900489 | ACVRL1 | c.565T>A (p.Tyr189Asn) c.835T>A (p.Tyr279Asn) c.313T>A (p.Tyr105Asn) c.877T>A (p.Tyr293Asn) c.46T>A (p.Tyr16Asn) | |
| 12 | g.51915287T>C | CA384900490 | ACVRL1 | c.565T>C (p.Tyr189His) c.835T>C (p.Tyr279His) c.313T>C (p.Tyr105His) c.877T>C (p.Tyr293His) c.46T>C (p.Tyr16His) | |
| 12 | g.51915287T>G | CA384900491 | ACVRL1 | c.565T>G (p.Tyr189Asp) c.835T>G (p.Tyr279Asp) c.313T>G (p.Tyr105Asp) c.877T>G (p.Tyr293Asp) c.46T>G (p.Tyr16Asp) | |
| 12 | g.51915288A= | CA2036269443 | ACVRL1 | c.566A= (p.Tyr189=) c.836A= (p.Tyr279=) c.314A= (p.Tyr105=) c.878A= (p.Tyr293=) c.47A= (p.Tyr16=) | |
| 12 | g.51915288A>C | CA384900492 | ACVRL1 | c.566A>C (p.Tyr189Ser) c.836A>C (p.Tyr279Ser) c.314A>C (p.Tyr105Ser) c.878A>C (p.Tyr293Ser) c.47A>C (p.Tyr16Ser) | |
| 12 | g.51915288A>G | CA384900494 | ACVRL1 | c.566A>G (p.Tyr189Cys) c.836A>G (p.Tyr279Cys) c.314A>G (p.Tyr105Cys) c.878A>G (p.Tyr293Cys) c.47A>G (p.Tyr16Cys) | dbSNP |
| 12 | g.51915288A>T | CA384900495 | ACVRL1 | c.566A>T (p.Tyr189Phe) c.836A>T (p.Tyr279Phe) c.314A>T (p.Tyr105Phe) c.878A>T (p.Tyr293Phe) c.47A>T (p.Tyr16Phe) | |
| 12 | g.51915290_51915298dup | CA2695216740 | ACVRL1 | c.568_576dup (p.His192_Gly193insHisGluHis) c.838_846dup (p.His282_Gly283insHisGluHis) c.316_324dup (p.His108_Gly109insHisGluHis) c.880_888dup (p.His296_Gly297insHisGluHis) c.49_57dup (p.His19_Gly20insHisGluHis) | |
| 12 | g.51915289C>A | CA384900497 | ACVRL1 | c.567C>A (p.Tyr189Ter) c.837C>A (p.Tyr279Ter) c.315C>A (p.Tyr105Ter) c.879C>A (p.Tyr293Ter) c.48C>A (p.Tyr16Ter) | |
| 12 | g.51915289C>G | CA384900498 | ACVRL1 | c.567C>G (p.Tyr189Ter) c.837C>G (p.Tyr279Ter) c.315C>G (p.Tyr105Ter) c.879C>G (p.Tyr293Ter) c.48C>G (p.Tyr16Ter) | |
| 12 | g.51915289C>T | CA480063165 | ACVRL1 | c.567C>T (p.Tyr189=) c.837C>T (p.Tyr279=) c.315C>T (p.Tyr105=) c.879C>T (p.Tyr293=) c.48C>T (p.Tyr16=) | gnomAD v4 |
| 12 | g.51915290C>A | CA384900502 | ACVRL1 | c.568C>A (p.His190Asn) c.838C>A (p.His280Asn) c.316C>A (p.His106Asn) c.880C>A (p.His294Asn) c.49C>A (p.His17Asn) | |
| 12 | g.51915290C= | CA2036269444 | ACVRL1 | c.568C= (p.His190=) c.838C= (p.His280=) c.316C= (p.His106=) c.880C= (p.His294=) c.49C= (p.His17=) | |
| 12 | g.51915290C>G | CA384900504 | ACVRL1 | c.568C>G (p.His190Asp) c.838C>G (p.His280Asp) c.316C>G (p.His106Asp) c.880C>G (p.His294Asp) c.49C>G (p.His17Asp) | |
| 12 | g.51915290C>T | CA384900500 | ACVRL1 | c.568C>T (p.His190Tyr) c.838C>T (p.His280Tyr) c.316C>T (p.His106Tyr) c.880C>T (p.His294Tyr) c.49C>T (p.His17Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915290_51915294del | CA2580086477 | ACVRL1 | c.568_572del (p.His190AlafsTer?) c.838_842del (p.His280AlafsTer?) c.316_320del (p.His106AlafsTer?) c.880_884del (p.His294AlafsTer?) c.49_53del (p.His17AlafsTer?) | ClinVar |
| 12 | g.51915291A>C | CA384900507 | ACVRL1 | c.569A>C (p.His190Pro) c.839A>C (p.His280Pro) c.317A>C (p.His106Pro) c.881A>C (p.His294Pro) c.50A>C (p.His17Pro) | |
| 12 | g.51915291A>G | CA384900505 | ACVRL1 | c.569A>G (p.His190Arg) c.839A>G (p.His280Arg) c.317A>G (p.His106Arg) c.881A>G (p.His294Arg) c.50A>G (p.His17Arg) | ClinVar |
| 12 | g.51915291A>T | CA384900509 | ACVRL1 | c.569A>T (p.His190Leu) c.839A>T (p.His280Leu) c.317A>T (p.His106Leu) c.881A>T (p.His294Leu) c.50A>T (p.His17Leu) | |
| 12 | g.51915292C>A | CA384900510 | ACVRL1 | c.570C>A (p.His190Gln) c.840C>A (p.His280Gln) c.318C>A (p.His106Gln) c.882C>A (p.His294Gln) c.51C>A (p.His17Gln) | |
| 12 | g.51915292C= | CA2036269445 | ACVRL1 | c.570C= (p.His190=) c.840C= (p.His280=) c.318C= (p.His106=) c.882C= (p.His294=) c.51C= (p.His17=) | |
| 12 | g.51915292C>G | CA384900513 | ACVRL1 | c.570C>G (p.His190Gln) c.840C>G (p.His280Gln) c.318C>G (p.His106Gln) c.882C>G (p.His294Gln) c.51C>G (p.His17Gln) | |
| 12 | g.51915292C>T | CA6573005 | ACVRL1 | c.570C>T (p.His190=) c.840C>T (p.His280=) c.318C>T (p.His106=) c.882C>T (p.His294=) c.51C>T (p.His17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915293G>A | CA6573006 | ACVRL1 | c.571G>A (p.Glu191Lys) c.841G>A (p.Glu281Lys) c.319G>A (p.Glu107Lys) c.883G>A (p.Glu295Lys) c.52G>A (p.Glu18Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915293G>C | CA384900515 | ACVRL1 | c.571G>C (p.Glu191Gln) c.841G>C (p.Glu281Gln) c.319G>C (p.Glu107Gln) c.883G>C (p.Glu295Gln) c.52G>C (p.Glu18Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915293G= | CA2036269446 | ACVRL1 | c.571G= (p.Glu191=) c.841G= (p.Glu281=) c.319G= (p.Glu107=) c.883G= (p.Glu295=) c.52G= (p.Glu18=) | |
| 12 | g.51915293G>T | CA16613819 | ACVRL1 | c.571G>T (p.Glu191Ter) c.841G>T (p.Glu281Ter) c.319G>T (p.Glu107Ter) c.883G>T (p.Glu295Ter) c.52G>T (p.Glu18Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915294del | CA2695216741 | ACVRL1 | c.572del (p.Glu191GlyfsTer20) c.842del (p.Glu281GlyfsTer20) c.320del (p.Glu107GlyfsTer20) c.884del (p.Glu295GlyfsTer20) c.53del (p.Glu18GlyfsTer20) | |
| 12 | g.51915294A>C | CA384900517 | ACVRL1 | c.572A>C (p.Glu191Ala) c.842A>C (p.Glu281Ala) c.320A>C (p.Glu107Ala) c.884A>C (p.Glu295Ala) c.53A>C (p.Glu18Ala) | |
| 12 | g.51915294A>G | CA384900520 | ACVRL1 | c.572A>G (p.Glu191Gly) c.842A>G (p.Glu281Gly) c.320A>G (p.Glu107Gly) c.884A>G (p.Glu295Gly) c.53A>G (p.Glu18Gly) | |
| 12 | g.51915294A>T | CA384900519 | ACVRL1 | c.572A>T (p.Glu191Val) c.842A>T (p.Glu281Val) c.320A>T (p.Glu107Val) c.884A>T (p.Glu295Val) c.53A>T (p.Glu18Val) | |
| 12 | g.51915295G>A | CA480063166 | ACVRL1 | c.573G>A (p.Glu191=) c.843G>A (p.Glu281=) c.321G>A (p.Glu107=) c.885G>A (p.Glu295=) c.54G>A (p.Glu18=) | ClinVar gnomAD v4 |
| 12 | g.51915295G>C | CA384900522 | ACVRL1 | c.573G>C (p.Glu191Asp) c.843G>C (p.Glu281Asp) c.321G>C (p.Glu107Asp) c.885G>C (p.Glu295Asp) c.54G>C (p.Glu18Asp) | |
| 12 | g.51915295G>T | CA384900524 | ACVRL1 | c.573G>T (p.Glu191Asp) c.843G>T (p.Glu281Asp) c.321G>T (p.Glu107Asp) c.885G>T (p.Glu295Asp) c.54G>T (p.Glu18Asp) | COSMIC COSMIC |
| 12 | g.51915296C>A | CA384900526 | ACVRL1 | c.574C>A (p.His192Asn) c.844C>A (p.His282Asn) c.322C>A (p.His108Asn) c.886C>A (p.His296Asn) c.55C>A (p.His19Asn) | |
| 12 | g.51915296C>G | CA384900528 | ACVRL1 | c.574C>G (p.His192Asp) c.844C>G (p.His282Asp) c.322C>G (p.His108Asp) c.886C>G (p.His296Asp) c.55C>G (p.His19Asp) | |
| 12 | g.51915296C>T | CA384900527 | ACVRL1 | c.574C>T (p.His192Tyr) c.844C>T (p.His282Tyr) c.322C>T (p.His108Tyr) c.886C>T (p.His296Tyr) c.55C>T (p.His19Tyr) | gnomAD v4 |
| 12 | g.51915297A>C | CA384900531 | ACVRL1 | c.575A>C (p.His192Pro) c.845A>C (p.His282Pro) c.323A>C (p.His108Pro) c.887A>C (p.His296Pro) c.56A>C (p.His19Pro) | |
| 12 | g.51915297A>G | CA384900532 | ACVRL1 | c.575A>G (p.His192Arg) c.845A>G (p.His282Arg) c.323A>G (p.His108Arg) c.887A>G (p.His296Arg) c.56A>G (p.His19Arg) | |
| 12 | g.51915297A>T | CA384900534 | ACVRL1 | c.575A>T (p.His192Leu) c.845A>T (p.His282Leu) c.323A>T (p.His108Leu) c.887A>T (p.His296Leu) c.56A>T (p.His19Leu) | |
| 12 | g.51915298C>A | CA384900535 | ACVRL1 | c.576C>A (p.His192Gln) c.846C>A (p.His282Gln) c.324C>A (p.His108Gln) c.888C>A (p.His296Gln) c.57C>A (p.His19Gln) | gnomAD v4 |
| 12 | g.51915298C= | CA2036269447 | ACVRL1 | c.576C= (p.His192=) c.846C= (p.His282=) c.324C= (p.His108=) c.888C= (p.His296=) c.57C= (p.His19=) | |
| 12 | g.51915298C>G | CA384900536 | ACVRL1 | c.576C>G (p.His192Gln) c.846C>G (p.His282Gln) c.324C>G (p.His108Gln) c.888C>G (p.His296Gln) c.57C>G (p.His19Gln) | |
| 12 | g.51915298C>T | CA6573007 | ACVRL1 | c.576C>T (p.His192=) c.846C>T (p.His282=) c.324C>T (p.His108=) c.888C>T (p.His296=) c.57C>T (p.His19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915299_51915303del | CA2575161492 | ACVRL1 | c.577_581del (p.Gly193ProfsTer?) c.847_851del (p.Gly283ProfsTer?) c.325_329del (p.Gly109ProfsTer?) c.889_893del (p.Gly297ProfsTer?) c.58_62del (p.Gly20ProfsTer?) | |
| 12 | g.51915298_51915305delinsCGGCTCCC | CA2036269448 | ACVRL1 | c.576_583delinsCGGCTCCC (p.His192=) c.846_853delinsCGGCTCCC (p.His282=) c.324_331delinsCGGCTCCC (p.His108=) c.888_895delinsCGGCTCCC (p.His296=) c.57_64delinsCGGCTCCC (p.His19=) | |
| 12 | g.51915299G>A | CA384900538 | ACVRL1 | c.577G>A (p.Gly193Ser) c.847G>A (p.Gly283Ser) c.325G>A (p.Gly109Ser) c.889G>A (p.Gly297Ser) c.58G>A (p.Gly20Ser) | ClinVar gnomAD v4 |
| 12 | g.51915299G>C | CA384900540 | ACVRL1 | c.577G>C (p.Gly193Arg) c.847G>C (p.Gly283Arg) c.325G>C (p.Gly109Arg) c.889G>C (p.Gly297Arg) c.58G>C (p.Gly20Arg) | gnomAD v4 |
| 12 | g.51915299G>T | CA384900542 | ACVRL1 | c.577G>T (p.Gly193Cys) c.847G>T (p.Gly283Cys) c.325G>T (p.Gly109Cys) c.889G>T (p.Gly297Cys) c.58G>T (p.Gly20Cys) | |
| 12 | g.51915299_51915305delinsTT | CA1139662700 | ACVRL1 | c.577_583delinsTT (p.Gly193PhefsTer?) c.847_853delinsTT (p.Gly283PhefsTer?) c.325_331delinsTT (p.Gly109PhefsTer?) c.889_895delinsTT (p.Gly297PhefsTer?) c.58_64delinsTT (p.Gly20PhefsTer?) | ClinVar dbSNP |
| 12 | g.51915303_51915357del | CA2739272048 | ACVRL1 | c.581_635del (p.Ser194Ter) c.851_905del (p.Ser284Ter) c.329_383del (p.Ser110Ter) c.893_947del (p.Ser298Ter) c.62_116del (p.Ser21Ter) | ClinVar |
| 12 | g.51915300G>A | CA384900543 | ACVRL1 | c.578G>A (p.Gly193Asp) c.848G>A (p.Gly283Asp) c.326G>A (p.Gly109Asp) c.890G>A (p.Gly297Asp) c.59G>A (p.Gly20Asp) | COSMIC |
| 12 | g.51915300G>C | CA384900544 | ACVRL1 | c.578G>C (p.Gly193Ala) c.848G>C (p.Gly283Ala) c.326G>C (p.Gly109Ala) c.890G>C (p.Gly297Ala) c.59G>C (p.Gly20Ala) | |
| 12 | g.51915300G= | CA2036269449 | ACVRL1 | c.578G= (p.Gly193=) c.848G= (p.Gly283=) c.326G= (p.Gly109=) c.890G= (p.Gly297=) c.59G= (p.Gly20=) | |
| 12 | g.51915300G>T | CA384900547 | ACVRL1 | c.578G>T (p.Gly193Val) c.848G>T (p.Gly283Val) c.326G>T (p.Gly109Val) c.890G>T (p.Gly297Val) c.59G>T (p.Gly20Val) | ClinVar dbSNP |
| 12 | g.51915301C>A | CA480063167 | ACVRL1 | c.579C>A (p.Gly193=) c.849C>A (p.Gly283=) c.327C>A (p.Gly109=) c.891C>A (p.Gly297=) c.60C>A (p.Gly20=) | |
| 12 | g.51915301C= | CA2036269450 | ACVRL1 | c.579C= (p.Gly193=) c.849C= (p.Gly283=) c.327C= (p.Gly109=) c.891C= (p.Gly297=) c.60C= (p.Gly20=) | |
| 12 | g.51915301C>G | CA480063169 | ACVRL1 | c.579C>G (p.Gly193=) c.849C>G (p.Gly283=) c.327C>G (p.Gly109=) c.891C>G (p.Gly297=) c.60C>G (p.Gly20=) | |
| 12 | g.51915301C>T | CA480063168 | ACVRL1 | c.579C>T (p.Gly193=) c.849C>T (p.Gly283=) c.327C>T (p.Gly109=) c.891C>T (p.Gly297=) c.60C>T (p.Gly20=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915302T>A | CA384900548 | ACVRL1 | c.580T>A (p.Ser194Thr) c.850T>A (p.Ser284Thr) c.328T>A (p.Ser110Thr) c.892T>A (p.Ser298Thr) c.61T>A (p.Ser21Thr) | |
| 12 | g.51915302T>C | CA384900551 | ACVRL1 | c.580T>C (p.Ser194Pro) c.850T>C (p.Ser284Pro) c.328T>C (p.Ser110Pro) c.892T>C (p.Ser298Pro) c.61T>C (p.Ser21Pro) | ClinVar |
| 12 | g.51915302T>G | CA384900550 | ACVRL1 | c.580T>G (p.Ser194Ala) c.850T>G (p.Ser284Ala) c.328T>G (p.Ser110Ala) c.892T>G (p.Ser298Ala) c.61T>G (p.Ser21Ala) | dbSNP |
| 12 | g.51915302T= | CA2036269451 | ACVRL1 | c.580T= (p.Ser194=) c.850T= (p.Ser284=) c.328T= (p.Ser110=) c.892T= (p.Ser298=) c.61T= (p.Ser21=) | |
| 12 | g.51915303C>A | CA384900553 | ACVRL1 | c.581C>A (p.Ser194Tyr) c.851C>A (p.Ser284Tyr) c.329C>A (p.Ser110Tyr) c.893C>A (p.Ser298Tyr) c.62C>A (p.Ser21Tyr) | |
| 12 | g.51915303C= | CA2036269452 | ACVRL1 | c.581C= (p.Ser194=) c.851C= (p.Ser284=) c.329C= (p.Ser110=) c.893C= (p.Ser298=) c.62C= (p.Ser21=) | |
| 12 | g.51915303C>G | CA6573008 | ACVRL1 | c.581C>G (p.Ser194Cys) c.851C>G (p.Ser284Cys) c.329C>G (p.Ser110Cys) c.893C>G (p.Ser298Cys) c.62C>G (p.Ser21Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915303C>T | CA384900555 | ACVRL1 | c.581C>T (p.Ser194Phe) c.851C>T (p.Ser284Phe) c.329C>T (p.Ser110Phe) c.893C>T (p.Ser298Phe) c.62C>T (p.Ser21Phe) | ClinVar dbSNP |
| 12 | g.51915305dup | CA2695216742 | ACVRL1 | c.583dup (p.Leu195ProfsTer?) c.853dup (p.Leu285ProfsTer?) c.331dup (p.Leu111ProfsTer?) c.895dup (p.Leu299ProfsTer?) c.64dup (p.Leu22ProfsTer?) | |
| 12 | g.51915304C>A | CA480063170 | ACVRL1 | c.582C>A (p.Ser194=) c.852C>A (p.Ser284=) c.330C>A (p.Ser110=) c.894C>A (p.Ser298=) c.63C>A (p.Ser21=) | |
| 12 | g.51915304C>G | CA480063171 | ACVRL1 | c.582C>G (p.Ser194=) c.852C>G (p.Ser284=) c.330C>G (p.Ser110=) c.894C>G (p.Ser298=) c.63C>G (p.Ser21=) | |
| 12 | g.51915304C>T | CA480063172 | ACVRL1 | c.582C>T (p.Ser194=) c.852C>T (p.Ser284=) c.330C>T (p.Ser110=) c.894C>T (p.Ser298=) c.63C>T (p.Ser21=) | |
| 12 | g.51915305C>A | CA384900559 | ACVRL1 | c.583C>A (p.Leu195Ile) c.853C>A (p.Leu285Ile) c.331C>A (p.Leu111Ile) c.895C>A (p.Leu299Ile) c.64C>A (p.Leu22Ile) | |
| 12 | g.51915305C= | CA2036269453 | ACVRL1 | c.583C= (p.Leu195=) c.853C= (p.Leu285=) c.331C= (p.Leu111=) c.895C= (p.Leu299=) c.64C= (p.Leu22=) | |
| 12 | g.51915305C>G | CA384900560 | ACVRL1 | c.583C>G (p.Leu195Val) c.853C>G (p.Leu285Val) c.331C>G (p.Leu111Val) c.895C>G (p.Leu299Val) c.64C>G (p.Leu22Val) | |
| 12 | g.51915305C>T | CA384900562 | ACVRL1 | c.583C>T (p.Leu195Phe) c.853C>T (p.Leu285Phe) c.331C>T (p.Leu111Phe) c.895C>T (p.Leu299Phe) c.64C>T (p.Leu22Phe) | ClinVar dbSNP |
| 12 | g.51915306T>A | CA384900564 | ACVRL1 | c.584T>A (p.Leu195His) c.854T>A (p.Leu285His) c.332T>A (p.Leu111His) c.896T>A (p.Leu299His) c.65T>A (p.Leu22His) | |
| 12 | g.51915306T>C | CA384900566 | ACVRL1 | c.584T>C (p.Leu195Pro) c.854T>C (p.Leu285Pro) c.332T>C (p.Leu111Pro) c.896T>C (p.Leu299Pro) c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| 12 | g.51915306T>G | CA384900568 | ACVRL1 | c.584T>G (p.Leu195Arg) c.854T>G (p.Leu285Arg) c.332T>G (p.Leu111Arg) c.896T>G (p.Leu299Arg) c.65T>G (p.Leu22Arg) | |
| 12 | g.51915306T= | CA2036269454 | ACVRL1 | c.584T= (p.Leu195=) c.854T= (p.Leu285=) c.332T= (p.Leu111=) c.896T= (p.Leu299=) c.65T= (p.Leu22=) | |
| 12 | g.51915307C>A | CA480063173 | ACVRL1 | c.585C>A (p.Leu195=) c.855C>A (p.Leu285=) c.333C>A (p.Leu111=) c.897C>A (p.Leu299=) c.66C>A (p.Leu22=) | |
| 12 | g.51915307C>G | CA480063174 | ACVRL1 | c.585C>G (p.Leu195=) c.855C>G (p.Leu285=) c.333C>G (p.Leu111=) c.897C>G (p.Leu299=) c.66C>G (p.Leu22=) | |
| 12 | g.51915307C>T | CA480063175 | ACVRL1 | c.585C>T (p.Leu195=) c.855C>T (p.Leu285=) c.333C>T (p.Leu111=) c.897C>T (p.Leu299=) c.66C>T (p.Leu22=) | |
| 12 | g.51915308T>A | CA384900572 | ACVRL1 | c.586T>A (p.Tyr196Asn) c.856T>A (p.Tyr286Asn) c.334T>A (p.Tyr112Asn) c.898T>A (p.Tyr300Asn) c.67T>A (p.Tyr23Asn) | |
| 12 | g.51915308T>C | CA384900571 | ACVRL1 | c.586T>C (p.Tyr196His) c.856T>C (p.Tyr286His) c.334T>C (p.Tyr112His) c.898T>C (p.Tyr300His) c.67T>C (p.Tyr23His) | gnomAD v4 |
| 12 | g.51915308T>G | CA384900569 | ACVRL1 | c.586T>G (p.Tyr196Asp) c.856T>G (p.Tyr286Asp) c.334T>G (p.Tyr112Asp) c.898T>G (p.Tyr300Asp) c.67T>G (p.Tyr23Asp) | |
| 12 | g.51915309A>C | CA384900573 | ACVRL1 | c.587A>C (p.Tyr196Ser) c.857A>C (p.Tyr286Ser) c.335A>C (p.Tyr112Ser) c.899A>C (p.Tyr300Ser) c.68A>C (p.Tyr23Ser) | |
| 12 | g.51915309A>G | CA384900574 | ACVRL1 | c.587A>G (p.Tyr196Cys) c.857A>G (p.Tyr286Cys) c.335A>G (p.Tyr112Cys) c.899A>G (p.Tyr300Cys) c.68A>G (p.Tyr23Cys) | |
| 12 | g.51915309A>T | CA384900575 | ACVRL1 | c.587A>T (p.Tyr196Phe) c.857A>T (p.Tyr286Phe) c.335A>T (p.Tyr112Phe) c.899A>T (p.Tyr300Phe) c.68A>T (p.Tyr23Phe) | |
| 12 | g.51915310C>A | CA384900576 | ACVRL1 | c.588C>A (p.Tyr196Ter) c.858C>A (p.Tyr286Ter) c.336C>A (p.Tyr112Ter) c.900C>A (p.Tyr300Ter) c.69C>A (p.Tyr23Ter) | ClinVar dbSNP |
| 12 | g.51915310C= | CA2036269455 | ACVRL1 | c.588C= (p.Tyr196=) c.858C= (p.Tyr286=) c.336C= (p.Tyr112=) c.900C= (p.Tyr300=) c.69C= (p.Tyr23=) | |
| 12 | g.51915310C>G | CA384900578 | ACVRL1 | c.588C>G (p.Tyr196Ter) c.858C>G (p.Tyr286Ter) c.336C>G (p.Tyr112Ter) c.900C>G (p.Tyr300Ter) c.69C>G (p.Tyr23Ter) | |
| 12 | g.51915310C>T | CA6573009 | ACVRL1 | c.588C>T (p.Tyr196=) c.858C>T (p.Tyr286=) c.336C>T (p.Tyr112=) c.900C>T (p.Tyr300=) c.69C>T (p.Tyr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915310_51915311insA | CA2580086478 | ACVRL1 | c.588_589insA (p.Asp197ArgfsTer?) c.858_859insA (p.Asp287ArgfsTer?) c.336_337insA (p.Asp113ArgfsTer?) c.900_901insA (p.Asp301ArgfsTer?) c.69_70insA (p.Asp24ArgfsTer?) | ClinVar |
| 12 | g.51915311G>A | CA384900580 | ACVRL1 | c.589G>A (p.Asp197Asn) c.859G>A (p.Asp287Asn) c.337G>A (p.Asp113Asn) c.901G>A (p.Asp301Asn) c.70G>A (p.Asp24Asn) | |
| 12 | g.51915311G>C | CA384900581 | ACVRL1 | c.589G>C (p.Asp197His) c.859G>C (p.Asp287His) c.337G>C (p.Asp113His) c.901G>C (p.Asp301His) c.70G>C (p.Asp24His) | gnomAD v4 |
| 12 | g.51915311G>T | CA384900582 | ACVRL1 | c.589G>T (p.Asp197Tyr) c.859G>T (p.Asp287Tyr) c.337G>T (p.Asp113Tyr) c.901G>T (p.Asp301Tyr) c.70G>T (p.Asp24Tyr) | |
| 12 | g.51915312A= | CA2036269456 | ACVRL1 | c.590A= (p.Asp197=) c.860A= (p.Asp287=) c.338A= (p.Asp113=) c.902A= (p.Asp301=) c.71A= (p.Asp24=) | |
| 12 | g.51915312A>C | CA384900584 | ACVRL1 | c.590A>C (p.Asp197Ala) c.860A>C (p.Asp287Ala) c.338A>C (p.Asp113Ala) c.902A>C (p.Asp301Ala) c.71A>C (p.Asp24Ala) | |
| 12 | g.51915312A>G | CA384900585 | ACVRL1 | c.590A>G (p.Asp197Gly) c.860A>G (p.Asp287Gly) c.338A>G (p.Asp113Gly) c.902A>G (p.Asp301Gly) c.71A>G (p.Asp24Gly) | dbSNP |
| 12 | g.51915312A>T | CA384900586 | ACVRL1 | c.590A>T (p.Asp197Val) c.860A>T (p.Asp287Val) c.338A>T (p.Asp113Val) c.902A>T (p.Asp301Val) c.71A>T (p.Asp24Val) | |
| 12 | g.51915313C>A | CA384900590 | ACVRL1 | c.591C>A (p.Asp197Glu) c.861C>A (p.Asp287Glu) c.339C>A (p.Asp113Glu) c.903C>A (p.Asp301Glu) c.72C>A (p.Asp24Glu) | |
| 12 | g.51915313C>G | CA384900588 | ACVRL1 | c.591C>G (p.Asp197Glu) c.861C>G (p.Asp287Glu) c.339C>G (p.Asp113Glu) c.903C>G (p.Asp301Glu) c.72C>G (p.Asp24Glu) | |
| 12 | g.51915313C>T | CA480063176 | ACVRL1 | c.591C>T (p.Asp197=) c.861C>T (p.Asp287=) c.339C>T (p.Asp113=) c.903C>T (p.Asp301=) c.72C>T (p.Asp24=) | |
| 12 | g.51915314T>A | CA384900591 | ACVRL1 | c.592T>A (p.Phe198Ile) c.862T>A (p.Phe288Ile) c.340T>A (p.Phe114Ile) c.904T>A (p.Phe302Ile) c.73T>A (p.Phe25Ile) | |
| 12 | g.51915314T>C | CA384900592 | ACVRL1 | c.592T>C (p.Phe198Leu) c.862T>C (p.Phe288Leu) c.340T>C (p.Phe114Leu) c.904T>C (p.Phe302Leu) c.73T>C (p.Phe25Leu) | |
| 12 | g.51915314T>G | CA384900594 | ACVRL1 | c.592T>G (p.Phe198Val) c.862T>G (p.Phe288Val) c.340T>G (p.Phe114Val) c.904T>G (p.Phe302Val) c.73T>G (p.Phe25Val) | |
| 12 | g.51915316dup | CA913184985 | ACVRL1 | c.594dup (p.Leu199SerfsTer?) c.864dup (p.Leu289SerfsTer?) c.342dup (p.Leu115SerfsTer?) c.906dup (p.Leu303SerfsTer?) c.75dup (p.Leu26SerfsTer?) | ClinVar |
| 12 | g.51915315T>A | CA384900595 | ACVRL1 | c.593T>A (p.Phe198Tyr) c.863T>A (p.Phe288Tyr) c.341T>A (p.Phe114Tyr) c.905T>A (p.Phe302Tyr) c.74T>A (p.Phe25Tyr) | |
| 12 | g.51915315T>C | CA384900597 | ACVRL1 | c.593T>C (p.Phe198Ser) c.863T>C (p.Phe288Ser) c.341T>C (p.Phe114Ser) c.905T>C (p.Phe302Ser) c.74T>C (p.Phe25Ser) | ClinVar dbSNP |
| 12 | g.51915315T>G | CA384900598 | ACVRL1 | c.593T>G (p.Phe198Cys) c.863T>G (p.Phe288Cys) c.341T>G (p.Phe114Cys) c.905T>G (p.Phe302Cys) c.74T>G (p.Phe25Cys) | |
| 12 | g.51915315T= | CA2036269457 | ACVRL1 | c.593T= (p.Phe198=) c.863T= (p.Phe288=) c.341T= (p.Phe114=) c.905T= (p.Phe302=) c.74T= (p.Phe25=) | |
| 12 | g.51915316T>A | CA384900600 | ACVRL1 | c.594T>A (p.Phe198Leu) c.864T>A (p.Phe288Leu) c.342T>A (p.Phe114Leu) c.906T>A (p.Phe302Leu) c.75T>A (p.Phe25Leu) | |
| 12 | g.51915316T>C | CA480063177 | ACVRL1 | c.594T>C (p.Phe198=) c.864T>C (p.Phe288=) c.342T>C (p.Phe114=) c.906T>C (p.Phe302=) c.75T>C (p.Phe25=) | |
| 12 | g.51915316T>G | CA384900601 | ACVRL1 | c.594T>G (p.Phe198Leu) c.864T>G (p.Phe288Leu) c.342T>G (p.Phe114Leu) c.906T>G (p.Phe302Leu) c.75T>G (p.Phe25Leu) | |
| 12 | g.51915317C>A | CA384900603 | ACVRL1 | c.595C>A (p.Leu199Met) c.865C>A (p.Leu289Met) c.343C>A (p.Leu115Met) c.907C>A (p.Leu303Met) c.76C>A (p.Leu26Met) | |
| 12 | g.51915317C>G | CA384900604 | ACVRL1 | c.595C>G (p.Leu199Val) c.865C>G (p.Leu289Val) c.343C>G (p.Leu115Val) c.907C>G (p.Leu303Val) c.76C>G (p.Leu26Val) | |
| 12 | g.51915317C>T | CA480063178 | ACVRL1 | c.595C>T (p.Leu199=) c.865C>T (p.Leu289=) c.343C>T (p.Leu115=) c.907C>T (p.Leu303=) c.76C>T (p.Leu26=) | |
| 12 | g.51915318T>A | CA384900606 | ACVRL1 | c.596T>A (p.Leu199Gln) c.866T>A (p.Leu289Gln) c.344T>A (p.Leu115Gln) c.908T>A (p.Leu303Gln) c.77T>A (p.Leu26Gln) | |
| 12 | g.51915318T>C | CA384900608 | ACVRL1 | c.596T>C (p.Leu199Pro) c.866T>C (p.Leu289Pro) c.344T>C (p.Leu115Pro) c.908T>C (p.Leu303Pro) c.77T>C (p.Leu26Pro) | ClinVar |
| 12 | g.51915318T>G | CA384900609 | ACVRL1 | c.596T>G (p.Leu199Arg) c.866T>G (p.Leu289Arg) c.344T>G (p.Leu115Arg) c.908T>G (p.Leu303Arg) c.77T>G (p.Leu26Arg) | |
| 12 | g.51915318dup | CA2695216743 | ACVRL1 | c.596dup (p.Gln200AlafsTer?) c.866dup (p.Gln290AlafsTer?) c.344dup (p.Gln116AlafsTer?) c.908dup (p.Gln304AlafsTer?) c.77dup (p.Gln27AlafsTer?) | |
| 12 | g.51915319del | CA645594553 | ACVRL1 | c.597del (p.Gln200ArgfsTer11) c.867del (p.Gln290ArgfsTer11) c.345del (p.Gln116ArgfsTer11) c.909del (p.Gln304ArgfsTer11) c.78del (p.Gln27ArgfsTer11) | COSMIC COSMIC |
| 12 | g.51915319G>A | CA480063179 | ACVRL1 | c.597G>A (p.Leu199=) c.867G>A (p.Leu289=) c.345G>A (p.Leu115=) c.909G>A (p.Leu303=) c.78G>A (p.Leu26=) | |
| 12 | g.51915319G>C | CA480063180 | ACVRL1 | c.597G>C (p.Leu199=) c.867G>C (p.Leu289=) c.345G>C (p.Leu115=) c.909G>C (p.Leu303=) c.78G>C (p.Leu26=) | gnomAD v4 |
| 12 | g.51915319G>T | CA480063181 | ACVRL1 | c.597G>T (p.Leu199=) c.867G>T (p.Leu289=) c.345G>T (p.Leu115=) c.909G>T (p.Leu303=) c.78G>T (p.Leu26=) | |
| 12 | g.51915320C>A | CA384900614 | ACVRL1 | c.598C>A (p.Gln200Lys) c.868C>A (p.Gln290Lys) c.346C>A (p.Gln116Lys) c.910C>A (p.Gln304Lys) c.79C>A (p.Gln27Lys) | |
| 12 | g.51915320C>G | CA384900615 | ACVRL1 | c.598C>G (p.Gln200Glu) c.868C>G (p.Gln290Glu) c.346C>G (p.Gln116Glu) c.910C>G (p.Gln304Glu) c.79C>G (p.Gln27Glu) | |
| 12 | g.51915320C>T | CA384900611 | ACVRL1 | c.598C>T (p.Gln200Ter) c.868C>T (p.Gln290Ter) c.346C>T (p.Gln116Ter) c.910C>T (p.Gln304Ter) c.79C>T (p.Gln27Ter) | ClinVar dbSNP |
| 12 | g.51915320_51915322delinsCAG | CA2036269458 | ACVRL1 | c.598_600delinsCAG (p.Gln200=) c.868_870delinsCAG (p.Gln290=) c.346_348delinsCAG (p.Gln116=) c.910_912delinsCAG (p.Gln304=) c.79_81delinsCAG (p.Gln27=) | |
| 12 | g.51915321A>C | CA384900617 | ACVRL1 | c.599A>C (p.Gln200Pro) c.869A>C (p.Gln290Pro) c.347A>C (p.Gln116Pro) c.911A>C (p.Gln304Pro) c.80A>C (p.Gln27Pro) | |
| 12 | g.51915321A>G | CA384900618 | ACVRL1 | c.599A>G (p.Gln200Arg) c.869A>G (p.Gln290Arg) c.347A>G (p.Gln116Arg) c.911A>G (p.Gln304Arg) c.80A>G (p.Gln27Arg) | |
| 12 | g.51915321A>T | CA384900619 | ACVRL1 | c.599A>T (p.Gln200Leu) c.869A>T (p.Gln290Leu) c.347A>T (p.Gln116Leu) c.911A>T (p.Gln304Leu) c.80A>T (p.Gln27Leu) | |
| 12 | g.51915321_51915322delinsAG | CA2036269459 | ACVRL1 | c.599_600delinsAG (p.Gln200=) c.869_870delinsAG (p.Gln290=) c.347_348delinsAG (p.Gln116=) c.911_912delinsAG (p.Gln304=) c.80_81delinsAG (p.Gln27=) | |
| 12 | g.51915324_51915325del | CA915948523 | ACVRL1 | c.602_603del (p.Arg201ThrfsTer?) c.872_873del (p.Arg291ThrfsTer?) c.350_351del (p.Arg117ThrfsTer?) c.914_915del (p.Arg305ThrfsTer?) c.83_84del (p.Arg28ThrfsTer?) | ClinVar dbSNP |
| 12 | g.51915322del | CA913190986 | ACVRL1 | c.600del (p.Arg201AspfsTer10) c.870del (p.Arg291AspfsTer10) c.348del (p.Arg117AspfsTer10) c.912del (p.Arg305AspfsTer10) c.81del (p.Arg28AspfsTer10) | ClinVar dbSNP |
| 12 | g.51915322G>A | CA480063182 | ACVRL1 | c.600G>A (p.Gln200=) c.870G>A (p.Gln290=) c.348G>A (p.Gln116=) c.912G>A (p.Gln304=) c.81G>A (p.Gln27=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915322G>C | CA384900620 | ACVRL1 | c.600G>C (p.Gln200His) c.870G>C (p.Gln290His) c.348G>C (p.Gln116His) c.912G>C (p.Gln304His) c.81G>C (p.Gln27His) | |
| 12 | g.51915322G= | CA2036269460 | ACVRL1 | c.600G= (p.Gln200=) c.870G= (p.Gln290=) c.348G= (p.Gln116=) c.912G= (p.Gln304=) c.81G= (p.Gln27=) | |
| 12 | g.51915322G>T | CA384900621 | ACVRL1 | c.600G>T (p.Gln200His) c.870G>T (p.Gln290His) c.348G>T (p.Gln116His) c.912G>T (p.Gln304His) c.81G>T (p.Gln27His) | |
| 12 | g.51915323A= | CA2036269461 | ACVRL1 | c.601A= (p.Arg201=) c.871A= (p.Arg291=) c.349A= (p.Arg117=) c.913A= (p.Arg305=) c.82A= (p.Arg28=) | |
| 12 | g.51915323A>C | CA480063183 | ACVRL1 | c.601A>C (p.Arg201=) c.871A>C (p.Arg291=) c.349A>C (p.Arg117=) c.913A>C (p.Arg305=) c.82A>C (p.Arg28=) | |
| 12 | g.51915323A>G | CA236364040 | ACVRL1 | c.601A>G (p.Arg201Gly) c.871A>G (p.Arg291Gly) c.349A>G (p.Arg117Gly) c.913A>G (p.Arg305Gly) c.82A>G (p.Arg28Gly) | dbSNP |
| 12 | g.51915323A>T | CA384900623 | ACVRL1 | c.601A>T (p.Arg201Ter) c.871A>T (p.Arg291Ter) c.349A>T (p.Arg117Ter) c.913A>T (p.Arg305Ter) c.82A>T (p.Arg28Ter) | ClinVar dbSNP |
| 12 | g.51915324G>A | CA384900625 | ACVRL1 | c.602G>A (p.Arg201Lys) c.872G>A (p.Arg291Lys) c.350G>A (p.Arg117Lys) c.914G>A (p.Arg305Lys) c.83G>A (p.Arg28Lys) | |
| 12 | g.51915324G>C | CA384900630 | ACVRL1 | c.602G>C (p.Arg201Thr) c.872G>C (p.Arg291Thr) c.350G>C (p.Arg117Thr) c.914G>C (p.Arg305Thr) c.83G>C (p.Arg28Thr) | gnomAD v4 |
| 12 | g.51915324G>T | CA384900633 | ACVRL1 | c.602G>T (p.Arg201Ile) c.872G>T (p.Arg291Ile) c.350G>T (p.Arg117Ile) c.914G>T (p.Arg305Ile) c.83G>T (p.Arg28Ile) |